VWA1

Summary

VWA1 (von Willebrand factor A domain containing 1, HGNC:30910) is a protein-coding gene on chromosome 1p36.33, encoding von Willebrand factor A domain-containing protein 1 (Q6PCB0). Promotes matrix assembly.

VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).

Source: NCBI Gene 64856 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neuronopathy, distal hereditary motor, autosomal recessive 7 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 189 total — 4 pathogenic, 10 likely-pathogenic
• Phenotypes (HPO): 21
• MANE Select transcript: NM_022834

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30910
Approved symbol	VWA1
Name	von Willebrand factor A domain containing 1
Location	1p36.33
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22215, VWA-1, WARP
Ensembl gene	ENSG00000179403
Ensembl biotype	protein_coding
OMIM	611901
Entrez	64856

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000338660, ENST00000471398, ENST00000476993, ENST00000495558, ENST00000895634, ENST00000895635

RefSeq mRNA: 2 — MANE Select: NM_022834 NM_022834, NM_199121

CCDS: CCDS27, CCDS28

Canonical transcript exons

ENST00000476993 — 3 exons

Exon	Start	End
ENSE00001632631	1436927	1437484
ENSE00001939478	1435690	1435821
ENSE00003684888	1439081	1442882

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 98.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.3231 / max 287.6491, expressed in 1288 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
111	14.3231	1288

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibial nerve	UBERON:0001323	98.20	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.84	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.82	gold quality
lower esophagus	UBERON:0013473	96.79	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.44	gold quality
sural nerve	UBERON:0015488	96.24	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.15	gold quality
olfactory bulb	UBERON:0002264	95.71	gold quality
right lobe of thyroid gland	UBERON:0001119	95.58	gold quality
spinal cord	UBERON:0002240	95.33	gold quality
mucosa of stomach	UBERON:0001199	94.19	gold quality
left uterine tube	UBERON:0001303	94.17	gold quality
seminal vesicle	UBERON:0000998	94.11	gold quality
right lobe of liver	UBERON:0001114	94.06	gold quality
prostate gland	UBERON:0002367	93.62	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.41	gold quality
minor salivary gland	UBERON:0001830	93.21	gold quality
left lobe of thyroid gland	UBERON:0001120	93.19	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.49	gold quality
esophagus	UBERON:0001043	92.46	gold quality
body of uterus	UBERON:0009853	92.45	gold quality
endocervix	UBERON:0000458	92.19	gold quality
metanephros cortex	UBERON:0010533	92.19	gold quality
apex of heart	UBERON:0002098	92.10	gold quality
body of stomach	UBERON:0001161	91.93	gold quality
saliva-secreting gland	UBERON:0001044	91.78	gold quality
decidua	UBERON:0002450	91.74	gold quality
putamen	UBERON:0001874	91.47	gold quality
thyroid gland	UBERON:0002046	91.40	gold quality
right uterine tube	UBERON:0001302	91.28	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	1171.00
E-MTAB-6308	yes	610.79
E-MTAB-6701	yes	120.80
E-MTAB-8410	yes	26.28
E-ANND-3	yes	12.70

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

67 targeting VWA1, 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-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-1296-3P	99.72	64.04	636
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-128-1-5P	99.33	60.46	332
HSA-MIR-128-2-5P	99.33	60.83	311
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-877-3P	99.09	68.10	1637

Literature-anchored findings (GeneRIF, showing 8)

• Evolutionary relationship between von Willebrand factor A domain-related protein (WARP), and the fibril-associated collagen with interrupted triple helix (FACIT) and FACIT-like subfamilies of collagens. (PMID:14527666)
• WARP forms macromolecular structures that interact with perlecan to contribute to the assembly and/or maintenance of “permanent” cartilage structures during development and in mature cartilages (PMID:16407285)
• Urea was used as a surrogate for shear to study denaturation of the individual VWF recombinant A domains, A1, A2, and A3, and the domain triplet, A1-A2-A3. (PMID:17187823)
• The distinct localization of WARP in the human and mouse inner ear blood vessels suggests an important role maintaining the integrity of the vasculature. (PMID:20971096)
• WARP is ideally placed to function as an adapter protein in the cartilage pericellular matrix. (PMID:23300779)
• The VWA1 domain of matrilin-3 is primarily responsible for the induction of IL-6 release from primary human chondrocytes. (PMID:23523902)
• Our results reveal the molecular mechanism of collagen-regulated, A1-mediated platelet adhesion enhancement. (PMID:26213126)
• Bi-allelic truncating mutations in VWA1 cause neuromyopathy. (PMID:33459760)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	vwa1	ENSDARG00000075468
mus_musculus	Vwa1	ENSMUSG00000042116
rattus_norvegicus	Vwa1	ENSRNOG00000018338

Paralogs (12): COCH (ENSG00000100473), COL12A1 (ENSG00000111799), MATN4 (ENSG00000124159), MATN3 (ENSG00000132031), MATN2 (ENSG00000132561), MATN1 (ENSG00000162510), COL6A3 (ENSG00000163359), VWA2 (ENSG00000165816), COL6A5 (ENSG00000172752), COL14A1 (ENSG00000187955), VIT (ENSG00000205221), COL6A6 (ENSG00000206384)

Protein

Protein identifiers

von Willebrand factor A domain-containing protein 1 — Q6PCB0 (reviewed: Q6PCB0)

All UniProt accessions (3): Q6PCB0, J3QLP3, J3QRR0

UniProt curated annotations — full annotation on UniProt →

Function. Promotes matrix assembly. Involved in the organization of skeletal muscles and in the formation of neuromuscular junctions.

Subunit / interactions. Homodimer or homomultimer; disulfide-linked. Interacts with HSPG2.

Subcellular location. Secreted. Extracellular space. Extracellular matrix. Basement membrane.

Post-translational modifications. N-glycosylated.

Disease relevance. Neuronopathy, hereditary motor, autosomal recessive 7 (HMNR7) [MIM:619216] An autosomal recessive, neuromyopathic disorder that manifests in childhood or adulthood with proximal and distal muscle weakness predominantly of the lower limbs. Affected individuals have difficulty climbing stairs and problems standing on the heels. Most patients have foot deformities, and some may have leg muscle atrophy. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6PCB0-1	1	yes
Q6PCB0-2	2
Q6PCB0-3	3

RefSeq proteins (2): NP_073745, NP_954572 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002035	VWF_A	Domain
IPR003961	FN3_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR036465	vWFA_dom_sf	Homologous_superfamily
IPR050525	ECM_Assembly_Org	Family

Pfam: PF00041, PF00092

UniProt features (19 total): modified residue 4, splice variant 3, domain 3, sequence variant 2, region of interest 2, signal peptide 1, chain 1, glycosylation site 1, sequence conflict 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PCB0-F1	79.26	0.39

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 (4): 83, 93, 74, 80

Glycosylation sites (1): 264

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275	Post-translational protein phosphorylation

MSigDB gene sets: 165 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, MYOGENIN_Q6, GOBP_BEHAVIOR, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GGGTGGRR_PAX4_03, GOBP_MULTICELLULAR_ORGANISMAL_RESPONSE_TO_STRESS, GOBP_BEHAVIORAL_RESPONSE_TO_PAIN, GOBP_RESPONSE_TO_PAIN, NF1_Q6_01, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, GROSS_HYPOXIA_VIA_ELK3_DN, GROSS_HYPOXIA_VIA_HIF1A_DN, GROSS_HYPOXIA_VIA_ELK3_AND_HIF1A_UP, TCCCCAC_MIR491

GO Biological Process (3): extracellular matrix organization (GO:0030198), behavioral response to pain (GO:0048266), protein homooligomerization (GO:0051260)

GO Molecular Function (5): protein homodimerization activity (GO:0042803), microfibril binding (GO:0050436), extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515), identical protein binding (GO:0042802)

GO Cellular Component (7): basement membrane (GO:0005604), interstitial matrix (GO:0005614), obsolete extracellular space (GO:0005615), endoplasmic reticulum lumen (GO:0005788), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062), extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of proteins	1
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
extracellular matrix	3
extracellular structure organization	1
external encapsulating structure organization	1
behavior	1
response to pain	1
protein complex oligomerization	1
identical protein binding	1
protein dimerization activity	1
extracellular matrix binding	1
structural molecule activity	1
binding	1
protein binding	1
endoplasmic reticulum	1
intracellular organelle lumen	1
external encapsulating structure	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1108 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VWA1	COL19A1	Q14993	840
VWA1	HSPG2	P98160	569
VWA1	AGBL1	Q96MI9	479
VWA1	FN1	P02751	456
VWA1	CFAP36	Q96G28	451
VWA1	TBL1X	O60907	423
VWA1	FAM81B	Q96LP2	409
VWA1	MMRN2	Q9H8L6	409
VWA1	KLHL17	Q6TDP4	368
VWA1	PLVAP	Q9BX97	365
VWA1	LTBP4	Q8N2S1	364
VWA1	COL21A1	Q96P44	359
VWA1	SAMD11	Q96NU1	349
VWA1	PUSL1	Q8N0Z8	342
VWA1	ARFRP1	Q13795	328

IntAct

37 interactions, top by confidence:

A	B	Type	Score
PDIA6	TXNRD1	psi-mi:“MI:0914”(association)	0.560
SDF2L1	CLIC1	psi-mi:“MI:0914”(association)	0.530
DEFA6	EXTL3	psi-mi:“MI:0914”(association)	0.530
C11orf24	NME2P1	psi-mi:“MI:0914”(association)	0.530
COLGALT2	COL1A1	psi-mi:“MI:0914”(association)	0.530
GDF9	MYH11	psi-mi:“MI:0914”(association)	0.530
RCN1	WDR45B	psi-mi:“MI:0914”(association)	0.530
CCL14	DNLZ	psi-mi:“MI:0914”(association)	0.530
POGLUT3	VWA1	psi-mi:“MI:0915”(physical association)	0.400
PCDHA10	AGAP1	psi-mi:“MI:0914”(association)	0.350
PCDHB11	CBX4	psi-mi:“MI:0914”(association)	0.350
CDCP1	CLSTN1	psi-mi:“MI:0914”(association)	0.350
CNPY2	COL2A1	psi-mi:“MI:0914”(association)	0.350
CCL14	PDIA5	psi-mi:“MI:0914”(association)	0.350
PDIA6	PLS1	psi-mi:“MI:0914”(association)	0.350
MINPP1	VWA1	psi-mi:“MI:0914”(association)	0.350
OS9	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CGREF1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
C1orf54	AGRN	psi-mi:“MI:0914”(association)	0.350
PCDHB11	SDCBP	psi-mi:“MI:0914”(association)	0.350
CHRNB1	BET1	psi-mi:“MI:0914”(association)	0.350
LAIR2	PLOD3	psi-mi:“MI:0914”(association)	0.350
TTR	ATG7	psi-mi:“MI:0914”(association)	0.350
PCDHA10	MLYCD	psi-mi:“MI:0914”(association)	0.350
CDCP1	MAN1A1	psi-mi:“MI:0914”(association)	0.350

BioGRID (39): VWA1 (Affinity Capture-MS), VWA1 (Affinity Capture-MS), VWA1 (Affinity Capture-MS), VWA1 (Affinity Capture-MS), VWA1 (Affinity Capture-MS), VWA1 (Affinity Capture-MS), VWA1 (Affinity Capture-MS), VWA1 (Affinity Capture-MS), VWA1 (Affinity Capture-MS), VWA1 (Affinity Capture-MS), VWA1 (Affinity Capture-MS), VWA1 (Affinity Capture-MS), VWA1 (Affinity Capture-MS), VWA1 (Affinity Capture-MS), VWA1 (Affinity Capture-MS)

ESM2 similar proteins: A4FV98, A5D7B1, A5PK51, A6QLN9, A8MUP2, D3ZVU9, O15527, O35595, O75078, O95848, P57775, Q05B60, Q06643, Q14728, Q14CX5, Q1LZB9, Q27HK4, Q2T9T5, Q2TBS1, Q3UGX3, Q4R3I0, Q4V892, Q58CT4, Q5E9H2, Q5RCI5, Q5SUV1, Q5TM22, Q642A6, Q6IA17, Q6PCB0, Q6XQN6, Q862Z7, Q8N8L6, Q8R2R5, Q8R2Z5, Q8R366, Q8WUG5, Q95JH0, Q95JH2, Q969P0

Diamond homologs: A2A863, A5Z1X6, B0FYY4, O08680, O54890, O70309, P05106, P05107, P05556, P07228, P09055, P11584, P11835, P12606, P12607, P16144, P18084, P18563, P18564, P26010, P26011, P26012, P29319, P29320, P32592, P49134, P53712, P53713, P53714, P80747, Q07409, Q07441, Q09062, Q0VBD0, Q1RPR6, Q27591, Q27874, Q2VJ42, Q3UH53, Q3UV74

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 52 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.

GO biological processes:

GO term	Partners	Fold	FDR
collagen fibril organization	5	24.4×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	10
Uncertain significance	127
Likely benign	22
Benign	13

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
1377417	NM_022834.5(VWA1):c.548C>G (p.Ser183Ter)	Pathogenic
2154860	NM_022834.5(VWA1):c.96del (p.Asp34fs)	Pathogenic
830324	NM_022834.5(VWA1):c.62_71del (p.Gly21fs)	Pathogenic
830325	NM_022834.5(VWA1):c.252del (p.Glu85fs)	Pathogenic
1318173	NM_022834.5(VWA1):c.1014_1017dup (p.Ile340fs)	Likely pathogenic
2584513	NM_022834.5(VWA1):c.1169_1217del (p.Leu390fs)	Likely pathogenic
2664084	NM_022834.5(VWA1):c.662dup (p.Glu222fs)	Likely pathogenic
3031419	NM_022834.5(VWA1):c.52_71dup (p.Gly25fs)	Likely pathogenic
3383311	NM_022834.5(VWA1):c.763del (p.Ala255fs)	Likely pathogenic
4085416	NM_022834.5(VWA1):c.632-2A>G	Likely pathogenic
4293587	NM_022834.5(VWA1):c.462dup (p.Met155fs)	Likely pathogenic
4294047	NM_022834.5(VWA1):c.1127_1128insA (p.Gln377fs)	Likely pathogenic
830326	NM_022834.5(VWA1):c.94C>T (p.Arg32Ter)	Likely pathogenic
830329	NM_022834.5(VWA1):c.186_209del (p.Pro63_Ala70del)	Likely pathogenic

SpliceAI

719 predictions. Top by Δscore:

Variant	Effect	Δscore
1:1435817:GCGCG:G	donor_gain	1.0000
1:1435819:GCG:G	donor_gain	1.0000
1:1435822:G:GG	donor_gain	1.0000
1:1435822:GTG:G	donor_loss	1.0000
1:1435823:T:A	donor_loss	1.0000
1:1436922:CCCA:C	acceptor_loss	1.0000
1:1436924:CA:C	acceptor_loss	1.0000
1:1436925:A:AG	acceptor_gain	1.0000
1:1436926:G:GA	acceptor_gain	1.0000
1:1435820:CG:C	donor_gain	0.9900
1:1435821:GG:G	donor_gain	0.9900
1:1436925:AG:A	acceptor_gain	0.9900
1:1436926:GG:G	acceptor_gain	0.9900
1:1436926:GGT:G	acceptor_gain	0.9900
1:1436926:GGTC:G	acceptor_gain	0.9900
1:1436926:GGTCC:G	acceptor_gain	0.9900
1:1437466:C:G	donor_gain	0.9900
1:1439070:A:AG	acceptor_gain	0.9900
1:1435818:CGCG:C	donor_gain	0.9800
1:1435819:GCGG:G	donor_gain	0.9800
1:1435824:GAGT:G	donor_loss	0.9800
1:1435826:G:GG	donor_gain	0.9800
1:1436081:G:GT	donor_gain	0.9800
1:1436087:G:GT	donor_gain	0.9800
1:1437433:G:GT	donor_gain	0.9800
1:1437481:CTCG:C	donor_loss	0.9800
1:1437483:CGGTA:C	donor_loss	0.9800
1:1437485:G:GG	donor_gain	0.9800
1:1437485:GT:G	donor_loss	0.9800
1:1437486:TA:T	donor_loss	0.9800

AlphaMissense

2788 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:1436974:A:C	S41R	0.996
1:1436976:C:A	S41R	0.996
1:1436976:C:G	S41R	0.996
1:1439505:G:C	W352C	0.995
1:1439505:G:T	W352C	0.995
1:1437001:T:C	F50L	0.992
1:1437003:C:A	F50L	0.992
1:1437003:C:G	F50L	0.992
1:1437356:T:A	V168D	0.992
1:1436963:T:C	F37S	0.990
1:1439503:T:A	W352R	0.990
1:1439503:T:C	W352R	0.990
1:1436972:A:T	D40V	0.988
1:1437274:T:A	W141R	0.984
1:1437274:T:C	W141R	0.984
1:1439644:T:G	Y399D	0.984
1:1437019:T:C	F56L	0.982
1:1437021:T:A	F56L	0.982
1:1437021:T:G	F56L	0.982
1:1437269:T:C	L139P	0.982
1:1436966:T:C	L38P	0.981
1:1437349:T:C	F166L	0.981
1:1437351:C:A	F166L	0.981
1:1437351:C:G	F166L	0.981
1:1437326:T:A	L158H	0.980
1:1436975:G:T	S41I	0.978
1:1437358:A:C	S169R	0.978
1:1437360:C:A	S169R	0.978
1:1437360:C:G	S169R	0.978
1:1437398:C:A	A182D	0.978

dbSNP variants (sampled 300 via entrez): RS1000912194 (1:1435002 G>A), RS1001010953 (1:1441581 G>A), RS1001027830 (1:1434759 G>A), RS1001092131 (1:1440411 A>T), RS1001138841 (1:1433764 C>T), RS1001248636 (1:1434115 G>A), RS1001290248 (1:1440640 A>G), RS1001364402 (1:1433973 G>A,T), RS1001444346 (1:1436665 TG>T), RS1001478504 (1:1439018 G>A), RS1001480339 (1:1440868 G>A,T), RS1001541511 (1:1440543 G>A,T), RS1001744525 (1:1440721 A>G), RS1001861205 (1:1442708 G>A), RS1001975802 (1:1442515 C>T)

Disease associations

OMIM: gene MIM:611901 | disease phenotypes: MIM:619216

GenCC curated gene-disease

Disease	Classification	Inheritance
neuronopathy, distal hereditary motor, autosomal recessive 7	Strong	Autosomal recessive
neuronopathy, distal hereditary motor, autosomal recessive 5	Supportive	Autosomal recessive

Mondo (3): neuronopathy, distal hereditary motor, autosomal recessive 7 (MONDO:0030977), neuromuscular disease (MONDO:0019056), neuronopathy, distal hereditary motor, autosomal recessive 5 (MONDO:0013947)

Orphanet (1): Neuromuscular disease (Orphanet:68381)

HPO phenotypes

21 total (21 of 21 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001252	Hypotonia
HP:0001265	Hyporeflexia
HP:0001308	Tongue fasciculations
HP:0001371	Flexion contracture
HP:0001761	Pes cavus
HP:0001762	Talipes equinovarus
HP:0002359	Frequent falls
HP:0003326	Myalgia
HP:0003401	Paresthesia
HP:0003458	EMG: myopathic abnormalities
HP:0003691	Scapular winging
HP:0007002	Motor axonal neuropathy
HP:0007210	Lower limb amyotrophy
HP:0008959	Distal upper limb muscle weakness
HP:0008994	Proximal lower limb muscle weakness
HP:0008997	Proximal upper limb muscle weakness
HP:0009027	Foot dorsiflexor weakness
HP:0009053	Distal lower limb muscle weakness
HP:0010830	Impaired tactile sensation
HP:0011463	Childhood onset

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005951_34	Body mass index	3.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009468	Neuromuscular Diseases	C10.668

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tetrachlorodibenzodioxin	affects expression, increases expression	3
bisphenol A	affects expression, decreases methylation	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine	decreases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
K 7174	decreases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Aspirin	increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Calcitriol	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Mercury	increases expression	1
Plant Extracts	decreases expression, affects cotreatment	1
Rifampin	decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Testosterone	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00331656	PHASE4	UNKNOWN	Comparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure.
NCT00994552	PHASE4	UNKNOWN	Comparison of Pressure Support and Pressure Control Ventilation in Chronic Respiratory Failure
NCT00839033	PHASE3	TERMINATED	Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders
NCT00942227	PHASE3	COMPLETED	The Value of Traction in Treatment of Lumbar Radiculopathy
NCT00979108	PHASE3	COMPLETED	The Value of Traction in the Treatment of Cervical Radiculopathy
NCT01826487	PHASE3	COMPLETED	Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
NCT02090959	PHASE3	TERMINATED	An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
NCT02436096	PHASE3	COMPLETED	A Study to Evaluate eFFIcacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With fibRoMyalgia
NCT02829814	PHASE3	TERMINATED	Repeat of: A Study to Evaluate Efficacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With Fibromyalgia
NCT03179631	PHASE3	COMPLETED	Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
NCT05126758	PHASE3	ACTIVE_NOT_RECRUITING	A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT05156320	PHASE3	COMPLETED	Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam
NCT05337553	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy
NCT05626855	PHASE3	ACTIVE_NOT_RECRUITING	Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab
NCT06672237	PHASE3	RECRUITING	A Phase 3 Study of NTLA-2001 in ATTRv-PN
NCT01074359	PHASE2	TERMINATED	Safety and Efficacy Study of A0001 in Patients With the A3243G Mitochondrial DNA Point Mutation
NCT01371149	PHASE2	COMPLETED	Patient -Ventilator Interaction in Chronic Respiratory Failure
NCT02022072	PHASE2	TERMINATED	Evaluation of Vital Capacity
NCT03127514	PHASE2	COMPLETED	AMX0035 in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT03406780	PHASE2	COMPLETED	A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT03921528	PHASE2	COMPLETED	An Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy
NCT05479981	PHASE2	COMPLETED	Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients
NCT06339580	PHASE2	RECRUITING	Assessment of Volume-targeted Ventilation in Patients With Neuromuscular Disease
NCT07071935	PHASE2	NOT_YET_RECRUITING	A Clinical Trial of Early Ventilation in Amyotrophic Lateral Sclerosis (EVENT ALS)
NCT07287189	PHASE2	RECRUITING	Phase 2 Study of SAT-3247 in Pediatric Ambulatory Patients
NCT00252252	PHASE1	COMPLETED	AutoVPAP Versus VPAP; Assessment of Sleep and Ventilation
NCT01560741	PHASE1	UNKNOWN	Telemedicine and Ventilator Titration in Chronic Respiratory Patients Initiating Non-invasive Ventilation
NCT01621984	PHASE1	COMPLETED	Therapeutic Riding and Neuromuscular Disease
NCT01758510	PHASE1	COMPLETED	Safety Study of HLA-haplo Matched Allogenic Bone Marrow Derived Stem Cell Treatment in Amyotrophic Lateral Sclerosis
NCT03440034	PHASE1	COMPLETED	Study of Pioglitazone in Sporadic Inclusion Body Myositis
NCT05730842	PHASE1	COMPLETED	Absorption, Metabolism, Excretion and Absolute Bioavailability of EDG-5506 in Healthy Volunteers
NCT03272802	PHASE2/PHASE3	UNKNOWN	Treatment Effect of Edaravone in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT00860951	PHASE1/PHASE2	COMPLETED	P300 Brain Computer Interface Keyboard to Operate Assistive Technology
NCT02362425	PHASE1/PHASE2	COMPLETED	Antioxidant Therapy in RYR1-Related Congenital Myopathy
NCT00001201	Not specified	COMPLETED	Evaluation of Neuromuscular Disease
NCT00002044	Not specified	COMPLETED	A Pilot Study To Evaluate the Effect of Retrovir (Zidovudine: AZT) in the Treatment of Human Immunodeficiency Virus (HIV) Associated Dementia and Neuromuscular Diseases
NCT00004553	Not specified	COMPLETED	Electromyography to Diagnose Neuromuscular Disorders
NCT00015470	Not specified	COMPLETED	Diagnostic Evaluation of Patients With Neuromuscular Disease
NCT00017745	Not specified	COMPLETED	Phenotype/Genotype Correlations in Neuromuscular Disorders
NCT00695591	Not specified	COMPLETED	Home Sleep Testing in Neuromuscular Disease Patients