HYCC1

Summary

HYCC1 (hyccin PI4KA lipid kinase complex subunit 1, HGNC:24587) is a protein-coding gene on chromosome 7p15.3, encoding Hyccin (Q9BYI3). Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane.

The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC).

Source: NCBI Gene 84668 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hypomyelinating leukodystrophy 5 (Definitive, ClinGen)
• GWAS associations: 4
• Clinical variants (ClinVar): 400 total — 7 pathogenic, 9 likely-pathogenic
• Phenotypes (HPO): 30
• MANE Select transcript: NM_032581

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24587
Approved symbol	HYCC1
Name	hyccin PI4KA lipid kinase complex subunit 1
Location	7p15.3
Locus type	gene with protein product
Status	Approved
Aliases	DRCTNNB1A, HCC, hyccin
Ensembl gene	ENSG00000122591
Ensembl biotype	protein_coding
OMIM	610531
Entrez	84668

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 8 protein_coding, 5 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay, 2 retained_intron

ENST00000409763, ENST00000409923, ENST00000421730, ENST00000432176, ENST00000440481, ENST00000465661, ENST00000467005, ENST00000477349, ENST00000498833, ENST00000679789, ENST00000679826, ENST00000680721, ENST00000681079, ENST00000681237, ENST00000681402, ENST00000681468, ENST00000681766, ENST00000905179, ENST00000905181

RefSeq mRNA: 3 — MANE Select: NM_032581 NM_001363466, NM_001363467, NM_032581

CCDS: CCDS5377, CCDS87486

Canonical transcript exons

ENST00000432176 — 11 exons

Exon	Start	End
ENSE00001693654	22961235	22961322
ENSE00001698408	22976210	22976305
ENSE00001699752	22934211	22946163
ENSE00001707068	22964415	22964531
ENSE00001765655	22983944	22984045
ENSE00002324498	22976693	22976808
ENSE00003483239	22978269	22978448
ENSE00003512341	23013925	23014130
ENSE00003584834	22977341	22977421
ENSE00003633207	22960256	22960415
ENSE00003661191	22991061	22991139

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 95.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.1775 / max 408.7956, expressed in 1715 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
83096	12.2479	1695
83095	3.9297	1344

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	95.67	gold quality
endothelial cell	CL:0000115	95.43	gold quality
sural nerve	UBERON:0015488	94.27	gold quality
layer of synovial tissue	UBERON:0007616	93.80	gold quality
gingival epithelium	UBERON:0001949	93.62	gold quality
synovial joint	UBERON:0002217	93.26	gold quality
colonic epithelium	UBERON:0000397	93.10	gold quality
deltoid	UBERON:0001476	93.08	gold quality
ganglionic eminence	UBERON:0004023	92.64	gold quality
superficial temporal artery	UBERON:0001614	92.63	gold quality
tibialis anterior	UBERON:0001385	92.58	gold quality
cardiac muscle of right atrium	UBERON:0003379	92.34	gold quality
gingiva	UBERON:0001828	92.11	gold quality
mammary duct	UBERON:0001765	91.86	gold quality
epithelium of mammary gland	UBERON:0003244	91.73	gold quality
pigmented layer of retina	UBERON:0001782	91.63	gold quality
visceral pleura	UBERON:0002401	91.52	gold quality
lower lobe of lung	UBERON:0008949	91.36	gold quality
vastus lateralis	UBERON:0001379	91.35	gold quality
cortical plate	UBERON:0005343	91.25	gold quality
ileal mucosa	UBERON:0000331	91.17	gold quality
skeletal muscle tissue	UBERON:0001134	91.07	gold quality
tendon	UBERON:0000043	90.86	gold quality
quadriceps femoris	UBERON:0001377	90.74	gold quality
skin of hip	UBERON:0001554	90.68	gold quality
substantia nigra pars reticulata	UBERON:0001966	90.66	gold quality
muscle tissue	UBERON:0002385	90.41	gold quality
biceps brachii	UBERON:0001507	90.38	gold quality
saphenous vein	UBERON:0007318	90.26	gold quality
left ventricle myocardium	UBERON:0006566	90.17	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	14.89
E-GEOD-124858	no	1141.97

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTNNB1

miRNA regulators (miRDB)

244 targeting HYCC1, 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-3163	100.00	77.23	8605
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4482-3P	99.98	72.50	3147

Literature-anchored findings (GeneRIF, showing 9)

• Mutation of this gene results in defective myelination of both the central and peripheral nervous system. (PMID:16951682)
• A large intragenic deletion of DRCTNNB1A does not lead to congenital cataract in all of the patients in an afflicted family. (PMID:17928815)
• Molecular analysis of 9 additional cases in this review depicts 3 novel mutations of FAM126A with clinical variability ranging from severe early-onset neurologic impairment to a milder phenotype (PMID:21911699)
• Two novel mutations in the FAM126A gene were identified in 2 unrelated families with Hypomyelination and congenital cataract (PMID:22749724)
• Identified two novel FAM126A mutations in three hypomyelination and congenital cataract affected members of two unrelated families. (PMID:23998934)
• A disease-associated FAM126A missense mutation causes protein accumulation in subcellular compartments. (PMID:24417797)
• point to a role for FAM126A in supporting myelination, an important process in development and also following acute exacerbations in multiple sclerosis (PMID:26571211)
• Downregulation of Drosophila TTC7 and Hyccin also reduces neuronal Abeta accumulation and associated synaptic and motor defects as well as premature death in Abeta42-expressing flies, while overexpression of TTC7 and Hyccin produced the opposite effect. (PMID:30103315)
• CirRNA circFAM126A Exerts Oncogenic Functions in NSCLC to Upregulate IRS2. (PMID:35397054)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	hycc1	ENSDARG00000026762
mus_musculus	Hycc1	ENSMUSG00000028995
rattus_norvegicus	Hycc1	ENSRNOG00000010517
drosophila_melanogaster	Hyccin	FBGN0034269
caenorhabditis_elegans		WBGENE00017037

Paralogs (1): HYCC2 (ENSG00000155744)

Protein

Protein identifiers

Hyccin — Q9BYI3 (reviewed: Q9BYI3)

Alternative names: Down-regulated by CTNNB1 protein A

All UniProt accessions (9): A0A7P0T8K2, A0A7P0T8Q9, A0A7P0T943, A0A7P0TAP6, A0A7P0TBJ9, A0A7P0Z4L0, B8ZZA2, H7C0W7, Q9BYI3

UniProt curated annotations — full annotation on UniProt →

Function. Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. HYCC1 plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P. Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system. May also have a role in the beta-catenin/Lef signaling pathway.

Subunit / interactions. Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and HYCC (HYCC1 or HYCC2). Interacts with TTC7 (TTC7A or TTC7B), interaction is direct.

Subcellular location. Cytoplasm. Cytosol. Cell membrane.

Tissue specificity. Widely expressed. Highest levels in heart, brain, placenta, spleen and testis.

Disease relevance. Leukodystrophy, hypomyelinating, 5 (HLD5) [MIM:610532] A hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed. The disease is caused by variants affecting the gene represented in this entry.

Induction. Down-regulated by beta-catenin.

Similarity. Belongs to the Hyccin family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BYI3-1	1	yes
Q9BYI3-2	2
Q9BYI3-3	3

RefSeq proteins (3): NP_001350395, NP_001350396, NP_115970* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018619	Hyccin	Family

Pfam: PF09790

UniProt features (40 total): helix 13, modified residue 6, strand 4, splice variant 3, sequence variant 3, sequence conflict 3, compositionally biased region 3, region of interest 2, turn 2, chain 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
5DSE	X-RAY DIFFRACTION	2.9
9B9G	ELECTRON MICROSCOPY	3.5
9OT6	ELECTRON MICROSCOPY	3.54
6BQ1	ELECTRON MICROSCOPY	3.6
9BAX	ELECTRON MICROSCOPY	3.65

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BYI3-F1	68.51	0.40

Antibody-complex structures (SAbDab): 1 — 9OT6

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 (6): 433, 453, 306, 321, 415, 422

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 287 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, CMYB_01, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, CTCTAGA_MIR526C_MIR518F_MIR526A, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, MYOD_01, GOBP_ENSHEATHMENT_OF_NEURONS

GO Biological Process (3): myelination (GO:0042552), phosphatidylinositol phosphate biosynthetic process (GO:0046854), protein localization to plasma membrane (GO:0072659)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): cytosol (GO:0005829), plasma membrane (GO:0005886), neuron projection (GO:0043005), cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
axon ensheathment	1
glycerophospholipid biosynthetic process	1
protein localization to membrane	1
protein localization to cell periphery	1
binding	1
cytoplasm	1
membrane	1
cell periphery	1
plasma membrane bounded cell projection	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

584 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HYCC1	TTC7B	Q86TV6	938
HYCC1	GJC2	Q5T442	899
HYCC1	TTC7A	Q9ULT0	880
HYCC1	AIMP1	Q12904	844
HYCC1	EFR3A	Q14156	706
HYCC1	EFR3B	Q9Y2G0	703
HYCC1	PI4KA	P42356	645
HYCC1	TMEM150A	Q86TG1	633
HYCC1	PLP1	P04400	559
HYCC1	TMEM109	Q9BVC6	454
HYCC1	ZCCHC24	Q8N2G6	445
HYCC1	SYT2	Q8N9I0	436
HYCC1	SH3GLB2	Q9NR46	431
HYCC1	LYPD6	Q86Y78	424
HYCC1	ATF3	P18847	424

IntAct

45 interactions, top by confidence:

A	B	Type	Score
HYCC1	CCNDBP1	psi-mi:“MI:0915”(physical association)	0.560
HYCC1	TRIM27	psi-mi:“MI:0915”(physical association)	0.560
HYCC1	FHL3	psi-mi:“MI:0915”(physical association)	0.560
HYCC1	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
TTC7B	HYCC1	psi-mi:“MI:0915”(physical association)	0.560
HYCC1	GC	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
Coro1c	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
PLEKHA7	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
RGS20	PGP	psi-mi:“MI:0914”(association)	0.350
P2RX5	NOP56	psi-mi:“MI:0914”(association)	0.350
LPAR6	DEGS1	psi-mi:“MI:0914”(association)	0.350
PI4KA	EFR3A	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
SCRIB	CHD2	psi-mi:“MI:0914”(association)	0.350
GPR17	TMEM120B	psi-mi:“MI:0914”(association)	0.350
TACSTD2	RIMOC1	psi-mi:“MI:0914”(association)	0.350
DGCR2	CCDC85C	psi-mi:“MI:0914”(association)	0.350

BioGRID (71): FAM126A (Affinity Capture-MS), FAM126A (Affinity Capture-MS), FAM126A (Affinity Capture-MS), FAM126A (Affinity Capture-MS), FAM126A (Proximity Label-MS), FAM126A (Affinity Capture-MS), GC (Affinity Capture-MS), RPGR (Affinity Capture-MS), FAM126A (Affinity Capture-MS), FAM126A (Affinity Capture-MS), SHPK (Affinity Capture-MS), NR2F2 (Affinity Capture-MS), FHL3 (Two-hybrid), MEOX2 (Two-hybrid), TRIM27 (Two-hybrid)

ESM2 similar proteins: A0A140LFM6, A0A1B0GUA6, A0JMD2, A2VCZ5, A5WUT8, A6H5Y1, A6NKB5, B8JKP6, D3ZJ47, F1M5M3, F1MJR8, M0R5D6, O14513, O60284, P0CAX8, Q0P4S0, Q15468, Q1LV19, Q1RMQ5, Q4V7H1, Q5DU28, Q5DW34, Q5REU9, Q5SW75, Q5SWW4, Q5U4U4, Q5ZM13, Q60664, Q60988, Q6P9N1, Q6ZPK7, Q76I76, Q76I79, Q80TA9, Q80TY4, Q8BLN6, Q8BYM7, Q8IWB6, Q8JGS1, Q8K2J4

Diamond homologs: Q5R977, Q5ZM13, Q6P121, Q6P9N1, Q8C729, Q8IXS8, Q9BYI3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	9
Uncertain significance	194
Likely benign	115
Benign	40

Top pathogenic / likely-pathogenic (16)

Variant ID	HGVS	Classification
1214	NM_032581.4(HYCC1):c.51+1G>A	Pathogenic
1216	NM_032581.4(HYCC1):c.158T>C (p.Leu53Pro)	Pathogenic
1457726	NM_032581.4(HYCC1):c.649C>T (p.Arg217Ter)	Pathogenic
1458225	NM_032581.4(HYCC1):c.414+1G>A	Pathogenic
21725	NM_032581.4(HYCC1):c.627-439_831+348del	Pathogenic
285562	NM_032581.4(HYCC1):c.415-1G>A	Pathogenic
3632712	NM_032581.4(HYCC1):c.781del (p.Asp261fs)	Pathogenic
1506613	NM_032581.4(HYCC1):c.831+1G>T	Likely pathogenic
1679236	NM_032581.4(HYCC1):c.832-2A>T	Likely pathogenic
2116835	NM_032581.4(HYCC1):c.154-1G>T	Likely pathogenic
2503877	NM_032581.4(HYCC1):c.349C>T (p.Gln117Ter)	Likely pathogenic
3064074	NM_032581.4(HYCC1):c.145C>T (p.Gln49Ter)	Likely pathogenic
4280124	NM_032581.4(HYCC1):c.175del (p.Gln59fs)	Likely pathogenic
4293621	NM_032581.4(HYCC1):c.1176del (p.Glu393fs)	Likely pathogenic
430054	NM_032581.4(HYCC1):c.229C>T (p.Gln77Ter)	Likely pathogenic
635049	NM_032581.4(HYCC1):c.100_101del (p.Lys34fs)	Likely pathogenic

SpliceAI

2576 predictions. Top by Δscore:

Variant	Effect	Δscore
7:22960412:CAAC:C	acceptor_gain	1.0000
7:22960413:AACC:A	acceptor_loss	1.0000
7:22960415:CCTA:C	acceptor_loss	1.0000
7:22960416:C:CA	acceptor_loss	1.0000
7:22960416:C:CC	acceptor_gain	1.0000
7:22960417:T:G	acceptor_loss	1.0000
7:22961323:C:CC	acceptor_gain	1.0000
7:22961331:T:TC	acceptor_gain	1.0000
7:22976304:ACC:A	acceptor_loss	1.0000
7:22976306:C:CA	acceptor_loss	1.0000
7:22976307:T:A	acceptor_loss	1.0000
7:22977339:A:AC	donor_gain	1.0000
7:22977340:C:CC	donor_gain	1.0000
7:22977340:CTT:C	donor_gain	1.0000
7:22978449:C:CC	acceptor_gain	1.0000
7:22979346:A:C	donor_gain	1.0000
7:22960250:TCTTA:T	donor_loss	0.9900
7:22960251:CTTAC:C	donor_loss	0.9900
7:22960252:TTACC:T	donor_loss	0.9900
7:22960253:T:TA	donor_loss	0.9900
7:22960254:A:AC	donor_gain	0.9900
7:22960254:ACCAT:A	donor_loss	0.9900
7:22960255:C:CC	donor_gain	0.9900
7:22960263:TTTCC:T	donor_gain	0.9900
7:22960297:A:AC	donor_gain	0.9900
7:22960298:C:CC	donor_gain	0.9900
7:22960360:T:A	donor_gain	0.9900
7:22961228:CACCT:C	donor_loss	0.9900
7:22961229:ACCTA:A	donor_loss	0.9900
7:22961230:CCTA:C	donor_loss	0.9900

AlphaMissense

3390 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:22960282:A:G	I322T	1.000
7:22960266:C:A	W327C	0.999
7:22960266:C:G	W327C	0.999
7:22960268:A:G	W327R	0.999
7:22960268:A:T	W327R	0.999
7:22960269:C:A	R326S	0.999
7:22960269:C:G	R326S	0.999
7:22960270:C:A	R326M	0.999
7:22960270:C:G	R326T	0.999
7:22960282:A:T	I322K	0.999
7:22960286:A:G	S321P	0.999
7:22960290:G:C	S319R	0.999
7:22960290:G:T	S319R	0.999
7:22960292:T:G	S319R	0.999
7:22960294:G:A	T318I	0.999
7:22960297:A:T	V317E	0.999
7:22978423:A:G	L60P	0.999
7:22991078:A:G	W12R	0.999
7:22991078:A:T	W12R	0.999
7:22960274:G:C	H325D	0.998
7:22960278:C:A	R323S	0.998
7:22960278:C:G	R323S	0.998
7:22960279:C:A	R323M	0.998
7:22960279:C:G	R323T	0.998
7:22960282:A:C	I322R	0.998
7:22960406:C:G	A281P	0.998
7:22977345:T:G	H137P	0.998
7:22977346:G:C	H137D	0.998
7:22977349:A:C	Y136D	0.998
7:22978272:A:C	N110K	0.998

dbSNP variants (sampled 300 via entrez): RS1000073910 (7:22996450 G>C,T), RS1000075621 (7:22953967 T>C), RS1000090694 (7:22974385 C>T), RS1000107688 (7:22921456 A>G), RS1000114684 (7:22986430 C>T), RS1000132827 (7:23002382 A>T), RS1000160834 (7:22915608 C>G,T), RS1000182931 (7:22984258 A>G), RS1000229851 (7:22960885 A>G), RS1000269550 (7:22967705 G>A), RS1000298566 (7:22980379 T>C), RS1000326073 (7:22950420 T>C), RS1000344546 (7:22920484 G>A,T), RS1000353969 (7:22967136 C>T), RS1000359419 (7:23008325 T>A,C)

Disease associations

OMIM: gene MIM:610531 | disease phenotypes: MIM:610532, MIM:313500

GenCC curated gene-disease

Disease	Classification	Inheritance
hypomyelinating leukodystrophy 5	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
hypomyelinating leukodystrophy 5	Definitive	AR

Mondo (2): hypomyelinating leukodystrophy 5 (MONDO:0012514), tooth agenesis, selective, X-linked, 1 (MONDO:0010741)

Orphanet (2): Hypomyelination-congenital cataract syndrome (Orphanet:85163), Oligodontia (Orphanet:99798)

HPO phenotypes

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

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000519	Developmental cataract
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001271	Polyneuropathy
HP:0001317	Abnormal cerebellum morphology
HP:0001347	Hyperreflexia
HP:0002080	Intention tremor
HP:0002342	Moderate intellectual disability
HP:0002415	Leukodystrophy
HP:0002505	Loss of ambulation
HP:0002650	Scoliosis
HP:0003383	Onion bulb formation
HP:0003429	CNS hypomyelination
HP:0003431	Decreased motor nerve conduction velocity
HP:0003487	Babinski sign
HP:0003577	Congenital onset
HP:0004466	Delayed brainstem auditory evoked response conduction time
HP:0006808	Cerebral hypomyelination
HP:0007210	Lower limb amyotrophy
HP:0007256	Abnormal pyramidal sign
HP:0007340	Lower limb muscle weakness
HP:0008936	Axial hypotonia
HP:0012762	Cerebral white matter atrophy
HP:0030147	Truncal titubation
HP:0031936	Delayed ability to walk
HP:0100291	Delayed somatosensory central conduction time

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002127_18	Periodontitis (Mean PAL)	6.000000e-06
GCST002715_1	Breastfeeding duration	1.000000e-07
GCST003984_23	Parkinson’s disease	2.000000e-12
GCST009798_59	Asthma	3.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006864	breastfeeding duration

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C567166	Leukodystrophy, Hypomyelinating, 5 (supp.)
C567060	Tooth Agenesis, Selective, X-Linked, 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression	3
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
FR900359	increases phosphorylation	1
TL8-506	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
geldanamycin	increases expression	1
propionaldehyde	increases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	affects cotreatment, decreases expression	1
trichostatin A	affects expression	1
sodium arsenite	increases abundance, increases expression	1
butyraldehyde	increases expression	1
manganese chloride	increases abundance, increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
gardiquimod	increases expression, decreases reaction	1
(+)-JQ1 compound	increases expression	1
Fulvestrant	increases methylation	1
Acetaminophen	increases expression	1
Arsenic	increases abundance, increases expression	1
Cadmium	increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1
Calcitriol	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Folic Acid	affects expression	1
Gallic Acid	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ketoconazole	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D8MP	Ubigene HCT 116 HYCC1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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