NDRG1

Summary

NDRG1 (N-myc downstream regulated 1, HGNC:7679) is a protein-coding gene on chromosome 8q24.22, encoding Protein NDRG1 (Q92597). Stress-responsive protein involved in hormone responses, cell growth, and differentiation.

This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 10397 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Charcot-Marie-Tooth disease type 4D (Definitive, GenCC)
• GWAS associations: 4
• Clinical variants (ClinVar): 832 total — 20 pathogenic, 22 likely-pathogenic
• Phenotypes (HPO): 70
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_006096

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7679
Approved symbol	NDRG1
Name	N-myc downstream regulated 1
Location	8q24.22
Locus type	gene with protein product
Status	Approved
Aliases	DRG1, RTP, TDD5, NDR1
Ensembl gene	ENSG00000104419
Ensembl biotype	protein_coding
OMIM	605262
Entrez	10397

Gene structure

Transcript identifiers

Ensembl transcripts: 61 — 28 protein_coding, 18 protein_coding_CDS_not_defined, 10 retained_intron, 5 nonsense_mediated_decay

ENST00000323851, ENST00000414097, ENST00000517331, ENST00000517599, ENST00000517745, ENST00000518010, ENST00000518066, ENST00000518094, ENST00000518176, ENST00000518480, ENST00000519228, ENST00000519278, ENST00000519580, ENST00000520230, ENST00000520943, ENST00000521026, ENST00000521414, ENST00000521438, ENST00000521544, ENST00000521664, ENST00000522377, ENST00000522476, ENST00000522665, ENST00000522738, ENST00000522890, ENST00000523642, ENST00000523892, ENST00000523931, ENST00000537882, ENST00000674521, ENST00000674536, ENST00000674605, ENST00000674705, ENST00000674804, ENST00000674839, ENST00000674902, ENST00000674925, ENST00000675010, ENST00000675036, ENST00000675056, ENST00000675068, ENST00000675172, ENST00000675273, ENST00000675357, ENST00000675414, ENST00000675429, ENST00000675437, ENST00000675531, ENST00000675568, ENST00000675600, ENST00000675860, ENST00000675983, ENST00000676005, ENST00000676022, ENST00000676064, ENST00000676124, ENST00000676142, ENST00000676222, ENST00000676341, ENST00000676375, ENST00000676444

RefSeq mRNA: 8 — MANE Select: NM_006096 NM_001135242, NM_001258432, NM_001258433, NM_001374844, NM_001374845, NM_001374846, NM_001374847, NM_006096

CCDS: CCDS34945, CCDS59113

Canonical transcript exons

ENST00000323851 — 16 exons

Exon	Start	End
ENSE00003463021	133259168	133259230
ENSE00003469756	133258366	133258426
ENSE00003489192	133242023	133242074
ENSE00003493203	133254539	133254595
ENSE00003500130	133250440	133250543
ENSE00003534087	133256777	133256863
ENSE00003550197	133264547	133264652
ENSE00003562139	133247875	133247926
ENSE00003568157	133244355	133244390
ENSE00003570300	133248715	133248771
ENSE00003571810	133280232	133280267
ENSE00003632772	133246616	133246663
ENSE00003667452	133284249	133284329
ENSE00003785926	133262047	133262167
ENSE00003897431	133237175	133239119
ENSE00003901912	133297134	133297252

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.80.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 112.0112 / max 2257.4449, expressed in 1806 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
95154	109.7746	1805
95149	0.7116	377
95150	0.4187	197
95152	0.3808	189
95151	0.3050	147
95146	0.2452	97
95155	0.1753	80

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
olfactory bulb	UBERON:0002264	99.80	gold quality
medial globus pallidus	UBERON:0002477	99.77	gold quality
tibial nerve	UBERON:0001323	99.73	gold quality
globus pallidus	UBERON:0001875	99.69	gold quality
corpus callosum	UBERON:0002336	99.64	gold quality
lower esophagus mucosa	UBERON:0035834	99.62	gold quality
skin of abdomen	UBERON:0001416	99.61	gold quality
inferior olivary complex	UBERON:0002127	99.61	gold quality
inferior vagus X ganglion	UBERON:0005363	99.60	gold quality
trigeminal ganglion	UBERON:0001675	99.59	gold quality
skin of leg	UBERON:0001511	99.57	gold quality
renal medulla	UBERON:0000362	99.53	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.53	gold quality
vagina	UBERON:0000996	99.50	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	99.48	gold quality
dorsal root ganglion	UBERON:0000044	99.45	gold quality
esophagus mucosa	UBERON:0002469	99.44	gold quality
esophagus squamous epithelium	UBERON:0006920	99.44	gold quality
cranial nerve II	UBERON:0000941	99.40	gold quality
ectocervix	UBERON:0012249	99.40	gold quality
spinal cord	UBERON:0002240	99.37	gold quality
pericardium	UBERON:0002407	99.36	gold quality
tendon of biceps brachii	UBERON:0008188	99.36	gold quality
squamous epithelium	UBERON:0006914	99.31	gold quality
zone of skin	UBERON:0000014	99.30	gold quality
gingival epithelium	UBERON:0001949	99.28	gold quality
ileal mucosa	UBERON:0000331	99.27	gold quality
prostate gland	UBERON:0002367	99.27	gold quality
mucosa of stomach	UBERON:0001199	99.25	gold quality
adult mammalian kidney	UBERON:0000082	99.24	gold quality

Single-cell (SCXA)

Detected in 16 experiment(s), a significant marker in 13.

Experiment	Marker?	Max mean expression
E-CURD-7	yes	2788.87
E-ENAD-21	yes	2724.97
E-MTAB-8495	yes	1538.56
E-MTAB-10662	yes	1208.28
E-ENAD-20	yes	422.99
E-HCAD-1	yes	222.57
E-GEOD-135922	yes	38.20
E-CURD-119	yes	28.28
E-GEOD-125970	yes	15.68
E-HCAD-10	yes	13.93
E-MTAB-6678	yes	9.30
E-GEOD-137537	yes	6.82
E-MTAB-8142	no	2188.25
E-ENAD-27	no	171.02
E-CURD-112	no	2.67

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, EGR1, EPAS1, ETS1, FOXD3, HIF1A, HR, MAX, MBD1, MTF1, MYC, MYCN, PBX1, PPARG, PTEN, SIRT1, SP1, TBX2, TCF3, TP53, YBX1

miRNA regulators (miRDB)

87 targeting NDRG1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-6753-3P	99.93	66.57	637
HSA-MIR-7107-3P	99.93	66.73	627
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-202-5P	99.78	67.65	991
HSA-MIR-1299	99.77	71.24	2389

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• examination as diagnostic aid due to overexpression in cancer cells (PMID:12046693)
• Cap43 overexpression in cancer cells involves a state of hypoxia characteristic of cancer cells where the Cap43 protein becomes a signature for this hypoxic state (PMID:12429530)
• Expression of this protein, a differentiation-related gene, has wide normal human tissue distribution and is in the SW480 colon neoplasm tumor cell line. (PMID:12432451)
• Downregulation of Cap43 gene by von Hippel-Lindau tumor suppressor protein in renal cancer cells. (PMID:12767066)
• Two disease causing mutations in NDRG1 in Charcot-Marie-Tooth Disease patients. (PMID:12872253)
• Ndrg1 gene is a Myc negative target in human neuroblastomas and other cell types with overexpressed N- or c-myc (PMID:12962147)
• NDRG1 gene may play an important role in colorectal carcinogenesis (PMID:14966915)
• Rit42 plays a role in the regulation of microtubule dynamics and the maintenance of euploidy (PMID:15247272)
• Increased Ndrg1 expression following Fe chelation was related to the permeability and antiproliferative activity of chelators. Ndrg1 up-regulation after iron chelation occurred at the transcriptional level. (PMID:15251988)
• NDRG1 is necessary but not sufficient for p53-mediated caspase activation and apoptosis (PMID:15377670)
• results identify NDRG1 and NDRG2 as physiological substrates for SGK1, and demonstrate that phosphorylation of NDRG1 by SGK1 primes it for phosphorylation by GSK3 (PMID:15461589)
• Drg1 expression may be associated with a less aggressive, indolent colorectal cancer. (PMID:15867226)
• NDRG1 interacts with APO A-I and A-II and may have a role in the general mechanisms of HDL-mediated cholesterol transport (PMID:15922294)
• Collectively these findings establish the importance of intracellular ascorbate levels for the regulation of expression of CA IX and NDRG1/Cap43. (PMID:16288478)
• NDRG1 interacts with SIRT1/p53 signaling to attenuate hypoxic injury in human trophoblasts (PMID:16314423)
• NDRG1 was up-regulated in differentiated leukemic cells after hypoxia or CoCl2 treatment via HIF-1a, which was reported involved in cell differentiation. The results indicated NDRG1 might play important role in the regulation of cell differentiation. (PMID:16622835)
• E2-induced down-regulation of Cap43 seems to be mediated through ER-alpha-dependent pathways in breast cancer cells both in culture and in patients (PMID:16707596)
• Analysis of specimens from 65 patients with pancreatic ductal adenocarcinoma showed a significant association between Cap43 expression and tumor microvascular density, depth of invasion, and histopathologic grading. (PMID:16778198)
• NDRG1 will not serve as a reliable marker of tumour cells in the pancreas, but may serve as a marker of differentiation. (PMID:16832411)
• The discovery that iron chelators also increase Ndrg-1 expression further augments their antitumor activity and provides a novel strategy for the treatment of cancer and its metastasis. [REVIEW] (PMID:16920733)
• Decreased expression of NDRG! mRNA expression was accompanied by the local progression of esophageal squamous cell carcinoma. (PMID:17069588)
• identified 58 proteins that interact with NDRG1 in prostate cancer cells (PMID:17220478)
• hypoxia is a potent inducer of NDRG1 in HCCs, albeit requiring additional stimuli within the tumour microenvironment for its recruitment to the membrane (PMID:17316623)
• NDRG1 mRNA remains associated with polysomes during hypoxia. (PMID:17488873)
• NDRG1 expression was correlated with various clinicopathological features and clinical outcomes in colorectal cancer depending on the race/ethnicity of the patients. (PMID:17569115)
• NDRG1 knockdown cells show a delay in recycling transferrin, conversely NDRG1 overexpressing cells reveal an increase in rate of transferrin recycling (PMID:17786215)
• The N-myc down regulated Gene1 (NDRG1) is a Rab4a effector involved in vesicular recycling of E-cadherin. (PMID:17786215)
• Egr-1 regulates NDRG1 transcription through an overlapping Egr-1/Sp1 binding site that acts as a major site of positive regulation of the NDRG1 promoter by hypoxia signaling. (PMID:17909017)
• Development of endometrial carcinoma is associated with an overexpression of NDRG1 and the loss of PTEN expression. (PMID:18377423)
• our results demonstrate that, in common with NDRG2, human NDRG1 can be indirectly transcriptionally down-regulated by Myc via interaction with the NDRG1 core promoter. (PMID:18455888)
• Ndrg-1 reduced the protein levels of cathepsin C which plays a role in invasion, indicating a potential mechanism of its anti-metastatic role in pancreatic cancer cells (PMID:18582504)
• Localization of N-myc downstream-regulated gene 1 and its significant correlation with p53 expression may play an important role in gastric cancer progression. (PMID:18602353)
• Data suggest that alteration of PTEN may upregulate NDRG1, which may be an important gene in facilitating endometrium carcinogenesis. (PMID:18653908)
• NDRG1/Cap43 may have a role in portal vein invasion and intrahepatic metastasis in human hepatocellular carcinoma (PMID:19020710)
• the role of NDRG1 protein in myeloid leukemic cell differentiation. (PMID:19046768)
• NDRG1 represents an additional diagnostic marker for brain tumor detection (PMID:19082468)
• the present study provides for the first time that the NDRG1 mRNA level is statistically significantly correlated with lymph node metastases, metastases to distant organs, and the degree of tumor cells differentiation. (PMID:19259744)
• Decreased expression of NDRG1 in glioma is related to tumor progression. (PMID:19337694)
• Overexpression of Cap43 is associated with malignant status of esophageal cancer (PMID:19414333)
• study suggests a novel mechanism by which NDRG1/Cap43 modulates tumor angiogenesis/growth and infiltration of macrophages/neutrophils through attenuation of NF-kappaB signaling (PMID:19491262)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	ndrg1b	ENSDARG00000010420
danio_rerio	ndrg1a	ENSDARG00000032849
mus_musculus	Ndrg1	ENSMUSG00000005125
rattus_norvegicus	Ndrg1	ENSRNOG00000007393
drosophila_melanogaster	CG2082	FBGN0027608
drosophila_melanogaster	MESK2	FBGN0043070
caenorhabditis_elegans	Y48G10A.3	WBGENE00013020
caenorhabditis_elegans		WBGENE00014213

Paralogs (3): NDRG3 (ENSG00000101079), NDRG4 (ENSG00000103034), NDRG2 (ENSG00000165795)

Protein

Protein identifiers

Protein NDRG1 — Q92597 (reviewed: Q92597)

Alternative names: Differentiation-related gene 1 protein, N-myc downstream-regulated gene 1 protein, Nickel-specific induction protein Cap43, Reducing agents and tunicamycin-responsive protein, Rit42

All UniProt accessions (27): Q92597, A0A6Q8PF06, A0A6Q8PF16, A0A6Q8PF28, A0A6Q8PF71, A0A6Q8PFB3, A0A6Q8PFG2, A0A6Q8PFP2, A0A6Q8PFR8, A0A6Q8PGD3, A0A6Q8PGF1, A0A6Q8PGJ1, A0A6Q8PHF2, A0A6Q8PHI0, A0A7I2ST14, E5RG99, E5RGG6, E5RGM5, E5RH82, E5RI76, E5RIM2, E5RIR1, E5RIV1, E5RJ98, E5RJY1, E5RK17, E7ESM1

UniProt curated annotations — full annotation on UniProt →

Function. Stress-responsive protein involved in hormone responses, cell growth, and differentiation. Acts as a tumor suppressor in many cell types. Necessary but not sufficient for p53/TP53-mediated caspase activation and apoptosis. Has a role in cell trafficking, notably of the Schwann cell, and is necessary for the maintenance and development of the peripheral nerve myelin sheath. Required for vesicular recycling of CDH1 and TF. May also function in lipid trafficking. Protects cells from spindle disruption damage. Functions in p53/TP53-dependent mitotic spindle checkpoint. Regulates microtubule dynamics and maintains euploidy.

Subunit / interactions. Interacts with RAB4A (membrane-bound form); the interaction involves NDRG1 in vesicular recycling of CDH1.

Subcellular location. Cytoplasm. Cytosol. Cytoskeleton. Microtubule organizing center. Centrosome. Nucleus. Cell membrane.

Tissue specificity. Ubiquitous; expressed most prominently in placental membranes and prostate, kidney, small intestine, and ovary tissues. Also expressed in heart, brain, skeletal muscle, lung, liver and pancreas. Low levels in peripheral blood leukocytes and in tissues of the immune system. Expressed mainly in epithelial cells. Also found in Schwann cells of peripheral neurons. Reduced expression in adenocarcinomas compared to normal tissues. In colon, prostate and placental membranes, the cells that border the lumen show the highest expression.

Post-translational modifications. Under stress conditions, phosphorylated in the C-terminal on many serine and threonine residues. Phosphorylated in vitro by PKA. Phosphorylation enhanced by increased intracellular cAMP levels. Homocysteine induces dephosphorylation. Phosphorylation by SGK1 is cell cycle dependent.

Disease relevance. Charcot-Marie-Tooth disease, demyelinating, type 4D (CMT4D) [MIM:601455] A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. The disease is caused by variants affecting the gene represented in this entry.

Induction. By homocysteine, 2-mercaptoethanol, tunicamycin in endothelial cells. Induced approximately 20-fold during in vitro differentiation of the colon carcinoma cell lines HT-29-D4 and Caco-2. Induced by oxidative stress in colon cancers. Decreased expression in colon adenomas and adenocarcinomas. Induced by nickel compounds in all tested cell lines. The primary signal for its induction is an elevation of free intracellular calcium ion caused by nickel ion exposure. Okadaic acid, a serine/threonine phosphatase inhibitor, induced its expression more rapidly and more efficiently than nickel.

Similarity. Belongs to the NDRG family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q92597-1	1	yes
Q92597-2	2
Q92597-3	3

RefSeq proteins (8): NP_001128714, NP_001245361, NP_001245362, NP_001361773, NP_001361774, NP_001361775, NP_001361776, NP_006087* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004142	NDRG	Family
IPR029058	AB_hydrolase_fold	Homologous_superfamily

Pfam: PF03096

UniProt features (57 total): modified residue 19, helix 14, strand 8, repeat 3, splice variant 2, sequence variant 2, turn 2, region of interest 2, compositionally biased region 2, initiator methionine 1, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6ZMM	X-RAY DIFFRACTION	2.96

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92597-F1	78.45	0.58

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (19): 2, 319, 326, 328, 330, 332, 333, 335, 336, 340, 342, 346, 352, 356, 362, 364, 366, 375, 2

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-6803205	TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
R-HSA-212436	Generic Transcription Pathway
R-HSA-3700989	Transcriptional Regulation by TP53
R-HSA-5633008	TP53 Regulates Transcription of Cell Death Genes
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)

MSigDB gene sets: 906 (showing top): MORF_MTA1, GOBP_CYTOPLASMIC_TRANSLATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, FREAC2_01, BENPORATH_ES_WITH_H3K27ME3, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, TGCGCANK_UNKNOWN, BASSO_B_LYMPHOCYTE_NETWORK, PEREZ_TP63_TARGETS, MORF_UBE2I, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, MENSE_HYPOXIA_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN

GO Biological Process (7): signal transduction (GO:0007165), negative regulation of cell population proliferation (GO:0008285), response to metal ion (GO:0010038), DNA damage response, signal transduction by p53 class mediator (GO:0030330), peripheral nervous system myelin maintenance (GO:0032287), mast cell activation (GO:0045576), cellular response to hypoxia (GO:0071456)

GO Molecular Function (6): microtubule binding (GO:0008017), nickel cation binding (GO:0016151), small GTPase binding (GO:0031267), gamma-tubulin binding (GO:0043015), cadherin binding (GO:0045296), protein binding (GO:0005515)

GO Cellular Component (18): nucleus (GO:0005634), cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), microtubule (GO:0005874), plasma membrane (GO:0005886), adherens junction (GO:0005912), microtubule cytoskeleton (GO:0015630), perinuclear region of cytoplasm (GO:0048471), recycling endosome membrane (GO:0055038), extracellular exosome (GO:0070062), sperm midpiece (GO:0097225), sperm principal piece (GO:0097228), sperm end piece (GO:0097229), sperm head-tail coupling apparatus (GO:0120212), sperm glycocalyx (GO:0120238), cytoskeleton (GO:0005856), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
TP53 Regulates Transcription of Cell Death Genes	1
RNA Polymerase II Transcription	1
Generic Transcription Pathway	1
Transcriptional Regulation by TP53	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	8
sperm flagellum	3
tubulin binding	2
cytoplasm	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
response to chemical	1
signal transduction in response to DNA damage	1
signal transduction by p53 class mediator	1
myelination in peripheral nervous system	1
myelin maintenance	1
myeloid leukocyte activation	1
response to hypoxia	1
cellular response to stress	1
cellular response to decreased oxygen levels	1
transition metal ion binding	1
GTPase binding	1
cell adhesion molecule binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
centriole	1
microtubule organizing center	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
membrane	1
cell periphery	1
cell-cell junction	1
cytoskeleton	1
endosome membrane	1
recycling endosome	1
extracellular vesicle	1
glycocalyx	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

2054 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NDRG1	MYCN	P04198	916
NDRG1	STK38L	Q9Y2H1	894
NDRG1	CCN4	O95388	802
NDRG1	TRMT2A	Q8IZ69	663
NDRG1	SLC25A18	Q9H1K4	646
NDRG1	SGK1	O00141	633
NDRG1	HIF1A	Q16665	619
NDRG1	SH3TC2	Q8TF17	599
NDRG1	SGK3	Q96BR1	568
NDRG1	SLC45A3	Q96JT2	557
NDRG1	RICTOR	Q6R327	531
NDRG1	GDAP1	Q8TB36	527
NDRG1	FGD4	Q96M96	507
NDRG1	MTMR2	Q13614	506
NDRG1	SBF2	Q86WG5	505

IntAct

219 interactions, top by confidence:

A	B	Type	Score
CDH1	CTNNB1	psi-mi:“MI:0914”(association)	0.960
CTNNB1	CDH1	psi-mi:“MI:0914”(association)	0.960
ATP1A1	ATP1B1	psi-mi:“MI:0914”(association)	0.910
ATP1B1	ATP1A1	psi-mi:“MI:0914”(association)	0.910
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SINHCAF	TNRC18	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
NDRG1	ATP1A1	psi-mi:“MI:0915”(physical association)	0.560
	NDRG1	psi-mi:“MI:0915”(physical association)	0.560
NDRG1	SAP30	psi-mi:“MI:0915”(physical association)	0.560
MSRB2	NDRG1	psi-mi:“MI:0915”(physical association)	0.560
RYBP	NDRG1	psi-mi:“MI:0915”(physical association)	0.560
TTC33	NDRG1	psi-mi:“MI:0915”(physical association)	0.560
SPAG8	NDRG1	psi-mi:“MI:0915”(physical association)	0.560
RNF111	NDRG1	psi-mi:“MI:0915”(physical association)	0.560
DCLRE1B	NDRG1	psi-mi:“MI:0915”(physical association)	0.560
CSTPP1	NDRG1	psi-mi:“MI:0915”(physical association)	0.560
MED28	NDRG1	psi-mi:“MI:0915”(physical association)	0.560
LDHAL6B	NDRG1	psi-mi:“MI:0915”(physical association)	0.560
SPATA2L	NDRG1	psi-mi:“MI:0915”(physical association)	0.560
ZMAT2	NDRG1	psi-mi:“MI:0915”(physical association)	0.560
FOXD4L6	NDRG1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (505): NDRG1 (Two-hybrid), NDRG1 (Biochemical Activity), NDRG1 (Affinity Capture-MS), NDRG1 (Affinity Capture-MS), NDRG1 (Affinity Capture-MS), DHX15 (Co-fractionation), G6PD (Co-fractionation), GART (Co-fractionation), HIP1R (Co-fractionation), NDRG1 (Co-fractionation), NDRG1 (Co-fractionation), NDRG1 (Co-fractionation), NDRG1 (Co-fractionation), NDRG1 (Co-fractionation), NDRG1 (Co-fractionation)

ESM2 similar proteins: A1L1L6, A2A825, A6QQZ7, A7MB28, A8WGF4, B1H2N3, C7A278, O54956, P11029, P11497, P42694, Q13085, Q28559, Q2HJF8, Q32LU1, Q4R518, Q5FVD6, Q5R8Q7, Q5RA95, Q5SWU9, Q5T2T1, Q5U2Y3, Q5U4X8, Q5XGS8, Q5ZM73, Q5ZM83, Q640Z1, Q66JN8, Q6AYR2, Q6DFV5, Q6DIS1, Q6DJD3, Q6GQK9, Q6NVC5, Q6NWV3, Q6NYU2, Q6P6Q9, Q8BG51, Q8BVD5, Q8IWZ6

Diamond homologs: A5A6K6, A7MB28, Q3SYX0, Q3ZBA8, Q4R4K0, Q4R4Q3, Q55BX3, Q5PR98, Q5RA95, Q5RBN6, Q62433, Q640Z1, Q641F2, Q66IG4, Q66KM2, Q6AYR2, Q6DFS4, Q6DIX1, Q6DJD3, Q6GQL1, Q6JE36, Q7ZWV3, Q7ZY73, Q8BTG7, Q8VBU2, Q92597, Q9ASU8, Q9FJT7, Q9QYF9, Q9QYG0, Q9UGV2, Q9ULP0, Q9UN36, Q9Z2L9, Q9ZUN1, A1AGT6, A1JMX1, A7ZSU1, A8A5M0, A8GCT3

SIGNOR signaling

10 interactions.

A	Effect	B	Mechanism
TP53	“up-regulates quantity by expression”	NDRG1	“transcriptional regulation”
NDRG1	up-regulates	RAB4A	binding
SGK1	down-regulates	NDRG1	phosphorylation
SGK1	up-regulates	NDRG1	phosphorylation
YBX1	“up-regulates quantity by expression”	NDRG1	“transcriptional regulation”
PTEN	“up-regulates quantity by expression”	NDRG1	“transcriptional regulation”
SGK3	“down-regulates activity”	NDRG1	phosphorylation
PIM1	“down-regulates activity”	NDRG1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 185 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Eukaryotic Translation Elongation	8	16.4×	8e-07
Eukaryotic Translation Initiation	7	15.9×	5e-06
Cap-dependent Translation Initiation	7	15.9×	5e-06
SARS-CoV-1 modulates host translation machinery	7	15.9×	5e-06
AUF1 (hnRNP D0) binds and destabilizes mRNA	8	14.6×	2e-06
Formation of the ternary complex, and subsequently, the 43S complex	9	14.3×	5e-07
Translation initiation complex formation	10	14.0×	2e-07
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	7	14.0×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	12	13.2×	1e-07
translation	11	6.7×	3e-04
mRNA splicing, via spliceosome	12	6.5×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

832 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	20
Likely pathogenic	22
Uncertain significance	286
Likely benign	361
Benign	69

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1073568	NM_006096.4(NDRG1):c.205+2T>A	Pathogenic
1210121	NM_006096.4(NDRG1):c.537+2_537+10del	Pathogenic
1323335	NM_006096.4(NDRG1):c.327-1G>A	Pathogenic
132796	NG_007943.1:g.(43089_43830)_(47717_51712)dup	Pathogenic
1379001	NM_006096.4(NDRG1):c.205+1G>T	Pathogenic
1453631	NC_000008.10:g.(?134292465)(134296564_?)del	Pathogenic
1456322	NM_006096.4(NDRG1):c.368del (p.Pro123fs)	Pathogenic
1457808	NC_000008.10:g.(?134260948)(134262796_?)del	Pathogenic
1458165	NM_006096.4(NDRG1):c.518_521dup (p.Trp175fs)	Pathogenic
1965769	NM_006096.4(NDRG1):c.641del (p.His214fs)	Pathogenic
218919	NM_006096.4(NDRG1):c.389+92_594+1717dup	Pathogenic
2816736	NM_006096.4(NDRG1):c.525G>A (p.Trp175Ter)	Pathogenic
2825304	NM_006096.4(NDRG1):c.330C>G (p.Tyr110Ter)	Pathogenic
3007519	NM_006096.4(NDRG1):c.524G>A (p.Trp175Ter)	Pathogenic
3233483	NM_006096.4(NDRG1):c.580del (p.His194fs)	Pathogenic
3245542	NC_000008.10:g.(?134296472)(134296554_?)del	Pathogenic
3647432	NM_006096.4(NDRG1):c.339del (p.Ser114fs)	Pathogenic
3775959	NM_006096.4(NDRG1):c.390-1G>A	Pathogenic
5120	NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter)	Pathogenic
845545	NM_006096.4(NDRG1):c.604C>T (p.Gln202Ter)	Pathogenic
1065993	NM_006096.4(NDRG1):c.99+1G>A	Likely pathogenic
1347512	NM_006096.4(NDRG1):c.63+1G>A	Likely pathogenic
1512343	NM_006096.4(NDRG1):c.808-2A>G	Likely pathogenic
1705646	NM_006096.4(NDRG1):c.390-2A>G	Likely pathogenic
2126125	NM_006096.4(NDRG1):c.855+2T>C	Likely pathogenic
2432078	NM_006096.4(NDRG1):c.259C>T (p.Gln87Ter)	Likely pathogenic
2871907	NM_006096.4(NDRG1):c.537+1G>T	Likely pathogenic
3362561	NM_006096.4(NDRG1):c.761del (p.Pro254fs)	Likely pathogenic
3595282	NM_006096.4(NDRG1):c.892-1G>C	Likely pathogenic
3595284	NM_006096.4(NDRG1):c.575_591dup (p.Lys198fs)	Likely pathogenic

SpliceAI

2607 predictions. Top by Δscore:

Variant	Effect	Δscore
8:133239115:GGGCA:G	acceptor_gain	1.0000
8:133239116:GGCA:G	acceptor_gain	1.0000
8:133239117:GCA:G	acceptor_gain	1.0000
8:133239118:CA:C	acceptor_gain	1.0000
8:133239118:CAC:C	acceptor_gain	1.0000
8:133239119:AC:A	acceptor_loss	1.0000
8:133239120:C:CC	acceptor_gain	1.0000
8:133239120:C:CG	acceptor_loss	1.0000
8:133242021:A:AC	donor_gain	1.0000
8:133242022:C:CC	donor_gain	1.0000
8:133242075:C:CC	acceptor_gain	1.0000
8:133244352:CACC:C	donor_loss	1.0000
8:133244353:A:AC	donor_gain	1.0000
8:133244353:A:AG	donor_loss	1.0000
8:133244354:C:CA	donor_loss	1.0000
8:133244354:C:CC	donor_gain	1.0000
8:133244387:CCAT:C	acceptor_gain	1.0000
8:133244388:CAT:C	acceptor_gain	1.0000
8:133244388:CATC:C	acceptor_gain	1.0000
8:133244389:ATC:A	acceptor_loss	1.0000
8:133244390:TCTAG:T	acceptor_loss	1.0000
8:133244391:C:CC	acceptor_gain	1.0000
8:133246615:C:A	donor_loss	1.0000
8:133246661:CACCT:C	acceptor_loss	1.0000
8:133246663:CCTG:C	acceptor_loss	1.0000
8:133246664:C:T	acceptor_loss	1.0000
8:133246665:T:G	acceptor_loss	1.0000
8:133248713:A:AC	donor_gain	1.0000
8:133248713:ACTG:A	donor_gain	1.0000
8:133248714:C:CT	donor_gain	1.0000

AlphaMissense

2603 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:133242028:C:T	G313E	1.000
8:133242029:C:G	G313R	1.000
8:133242029:C:T	G313R	1.000
8:133242034:C:A	G311V	1.000
8:133242034:C:T	G311D	1.000
8:133242035:C:A	G311C	1.000
8:133242035:C:G	G311R	1.000
8:133242036:C:A	Q310H	1.000
8:133242036:C:G	Q310H	1.000
8:133242046:T:C	Y307C	1.000
8:133242047:A:C	Y307D	1.000
8:133242047:A:G	Y307H	1.000
8:133242048:C:A	K306N	1.000
8:133242048:C:G	K306N	1.000
8:133242050:T:C	K306E	1.000
8:133242064:A:G	L301P	1.000
8:133244368:G:C	P293R	1.000
8:133244368:G:T	P293Q	1.000
8:133246616:C:A	K285N	1.000
8:133246616:C:G	K285N	1.000
8:133246620:A:G	L284P	1.000
8:133247903:C:A	G260V	1.000
8:133247903:C:T	G260E	1.000
8:133247904:C:A	G260W	1.000
8:133247904:C:G	G260R	1.000
8:133247904:C:T	G260R	1.000
8:133247915:A:G	L256P	1.000
8:133256787:G:T	A176D	1.000
8:133256800:A:G	W172R	1.000
8:133256800:A:T	W172R	1.000

dbSNP variants (sampled 300 via entrez): RS1000010317 (8:133258129 C>T), RS1000043112 (8:133285017 G>A,C), RS1000223953 (8:133295717 A>C,G), RS1000246880 (8:133251581 A>G), RS1000276521 (8:133288745 C>T), RS1000303271 (8:133278274 T>A), RS1000309143 (8:133289098 G>T), RS1000341477 (8:133262864 G>A,T), RS1000401313 (8:133273041 G>A), RS1000431449 (8:133251841 G>C), RS1000468158 (8:133284685 C>T), RS1000534902 (8:133246266 G>A), RS1000541144 (8:133294374 G>A,C), RS1000606449 (8:133278542 C>A,T), RS1000657756 (8:133298625 C>T)

Disease associations

OMIM: gene MIM:605262 | disease phenotypes: MIM:601455, MIM:118220

GenCC curated gene-disease

Disease	Classification	Inheritance
Charcot-Marie-Tooth disease type 4D	Definitive	Autosomal recessive

Mondo (3): Charcot-Marie-Tooth disease type 4D (MONDO:0011085), Charcot-Marie-Tooth disease type 4 (MONDO:0018995), Charcot-Marie-Tooth disease (MONDO:0015626)

Orphanet (3): Charcot-Marie-Tooth disease type 4 (Orphanet:64749), Charcot-Marie-Tooth disease type 4D (Orphanet:99950), Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166)

HPO phenotypes

70 total (30 of 70 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000232	Everted lower lip vermilion
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000358	Posteriorly rotated ears
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000431	Wide nasal bridge
HP:0000501	Glaucoma
HP:0000545	Myopia
HP:0000649	Abnormality of visual evoked potentials
HP:0000687	Widely spaced teeth
HP:0000762	Decreased nerve conduction velocity
HP:0000958	Dry skin
HP:0000964	Eczematoid dermatitis
HP:0001171	Split hand
HP:0001250	Seizure
HP:0001257	Spasticity
HP:0001265	Hyporeflexia
HP:0001270	Motor delay
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0001508	Failure to thrive
HP:0001511	Intrauterine growth retardation
HP:0001760	Abnormal foot morphology
HP:0001761	Pes cavus
HP:0001762	Talipes equinovarus
HP:0001765	Hammertoe
HP:0001890	Autoimmune hemolytic anemia

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002037_5	Post-traumatic stress disorder (asjusted for relatedness)	3.000000e-06
GCST005590_1	Nontyphoidal Salmonella bacteraemia	2.000000e-07
GCST007876_108	Estimated glomerular filtration rate	2.000000e-08
GCST90013421_40	Left-handedness	2.000000e-14

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009087	non-typhoidal Salmonella bacteremia
EFO:0009902	handedness

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002607	Charcot-Marie-Tooth Disease	C10.500.300.200; C10.574.500.495.200; C10.668.829.800.300.200; C16.131.666.300.200; C16.320.400.375.200
C535716	Neuropathy, hereditary motor and sensory, LOM type (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295916 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2272653	NDRG1		0.00	0

CTD chemical–gene interactions

193 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Oxygen	decreases reaction, increases expression, increases reaction, affects reaction, affects cotreatment (+1 more)	10
cobaltous chloride	decreases reaction, affects localization, increases expression	9
bisphenol A	decreases expression, increases expression, affects expression	6
nickel chloride	affects cotreatment, increases expression	6
sodium arsenite	increases phosphorylation, decreases expression, increases expression, increases methylation, decreases reaction	5
Tretinoin	affects cotreatment, decreases expression, increases expression	5
Particulate Matter	increases abundance, increases expression, affects cotreatment, decreases expression	4
(+)-JQ1 compound	increases expression, decreases reaction	3
Air Pollutants	increases expression, decreases expression, affects cotreatment, increases abundance, increases oxidation	3
Cisplatin	increases expression, affects expression	3
Estradiol	affects cotreatment, decreases expression, increases expression	3
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression, increases expression	3
Tunicamycin	increases phosphorylation, affects expression, increases expression, decreases reaction	3
Valproic Acid	increases expression	3
Cadmium Chloride	decreases reaction, increases abundance, increases phosphorylation, increases expression	3
nickel sulfate	increases expression, decreases reaction	2
cadmium sulfate	increases expression	2
bisphenol S	decreases expression, affects cotreatment, increases expression	2
Decitabine	affects expression, increases expression	2
Arsenic Trioxide	affects cotreatment, decreases expression, increases expression	2
Troglitazone	affects cotreatment, increases expression, decreases reaction	2
Acetaminophen	increases expression	2
Ethanol	affects cotreatment, increases expression, increases abundance	2
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression	2
Cobalt	increases reaction, increases expression	2
Copper	decreases response to substance, increases expression, affects binding	2
Deferoxamine	increases expression, decreases response to substance	2
Hydrogen Peroxide	affects expression, decreases expression	2
Nickel	increases expression, increases reaction	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2

ChEMBL screening assays

4 unique, capped per target: 4 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4230157	Binding	Inhibition of NDRG1 (unknown origin) at 1 uM by mobility shift microfluidics platform based assay relative to control	Effects of rigidity on the selectivity of protein kinase inhibitors. — Eur J Med Chem

Cellosaurus cell lines

4 cell lines: 2 transformed cell line, 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1B8	Abcam HEK293 NDRG1 KO	Transformed cell line	Female
CVCL_B1CS	Abcam A-431 NDRG1 KO	Cancer cell line	Female
CVCL_B3BZ	Abcam HEK293T NDRG1 KO	Transformed cell line	Female
CVCL_D7VL	Ubigene A-549 NDRG1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

59 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04762758	PHASE3	UNKNOWN	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
NCT00271635	PHASE2	COMPLETED	Ascorbic Acid Treatment in CMT1A Trial (AATIC)
NCT01401257	PHASE2	COMPLETED	Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A
NCT02561702	PHASE2	COMPLETED	Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease
NCT02967679	PHASE2	COMPLETED	SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study
NCT03124459	PHASE2	TERMINATED	Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
NCT03254199	PHASE2	TERMINATED	A Study to Assess the Safety and Effectiveness of FLX-787 in Subjects With Charcot-Marie-Tooth Disease Experiencing Muscle Cramps.
NCT03943290	PHASE2	TERMINATED	Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX)
NCT05777226	PHASE2	UNKNOWN	Research of SORD-CMT Natural History and Epalrestat Treatment
NCT06482437	PHASE2	COMPLETED	Safety and Efficacy of NMD670 in Adult Patients With Type 1 and Type 2 Charcot-Marie-Tooth Disease
NCT05902351	Not specified	RECRUITING	Natural History Study for Charcot Marie Tooth Disease
NCT01289704	PHASE2/PHASE3	UNKNOWN	Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A)
NCT00541164	PHASE1/PHASE2	COMPLETED	Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease
NCT05361031	PHASE1/PHASE2	COMPLETED	The Safety and Tolerability of Engensis (VM202) in Patients With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A)
NCT07223632	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient
NCT00149045	Not specified	COMPLETED	Follow up and Observation of Charcot Marie Tooth Disease in Families
NCT01193075	Not specified	RECRUITING	Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
NCT01203085	Not specified	COMPLETED	Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT
NCT01455623	Not specified	COMPLETED	Development and Validation of a Disability Severity Index for CMT
NCT01918826	Not specified	UNKNOWN	Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs
NCT02001038	Not specified	COMPLETED	Survey of Current Management of Orthopaedic Complications in CMT Patients
NCT02011204	Not specified	COMPLETED	Study of Electrical Impedance Myography (EIM) in ALS
NCT02194010	Not specified	COMPLETED	Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
NCT02429947	Not specified	COMPLETED	An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients
NCT02532244	Not specified	COMPLETED	Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT02788734	Not specified	COMPLETED	Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies
NCT02979145	Not specified	UNKNOWN	Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT03460951	Not specified	COMPLETED	Diffusion Tensor Imaging in Chronic Inflammatory Demyelinating Polyneuropathy (PIDC)
NCT03715283	Not specified	COMPLETED	Change in MUNIX in Patients With CMT1A Undergoing a Home Ankle Strengthening Program Versus Standard of Care
NCT03782883	Not specified	COMPLETED	The Impact of Charcot-Marie-Tooth Disease in the Real World
NCT03810508	Not specified	TERMINATED	A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
NCT03966287	Not specified	COMPLETED	Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT)
NCT04010188	Not specified	RECRUITING	A Registered Cohort Study on Charcot-Marie-Tooth Disease
NCT04283175	Not specified	COMPLETED	Validation Study of Posturology Platforms for Evaluating Postural Control of Hemiparetic and Neuro-muscular Patients
NCT04461613	Not specified	UNKNOWN	Physical Activity in Persons With Charcot-Marie-Tooth: Developing a Measurement Instrument
NCT04786522	Not specified	COMPLETED	Irisin Levels in Patients With Charcot-Marie-Tooth (CMT) Disease
NCT04967716	Not specified	UNKNOWN	Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases
NCT04980807	Not specified	COMPLETED	Observational Study of Neuromuscular Function in CMT Type 1&2 and Healthy Controls