Hypertrichosis

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
HYPERTRICHOSIS
C0020555MESH:D006983
ARID1B Causal — Disgenet
KCNJ11 Causal — Disgenet
ASXL1 Unknown — Disgenet
CREBBP Unknown — Disgenet
Polycomb repressive complex Viral life cycle - HIV-1 cAMP signaling pathway +52 more
NAGLU Unknown — Disgenet
RAB3GAP1 Unknown — Disgenet
SLC29A3 Unknown
19336477 20140240
CTD, Disgenet
HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA
C1851120MESH:C565016
ABCA5 Unknown — CTD, Disgenet
HYPERTRICHOSIS, CONGENITAL GENERALIZED, 2
C5887323
SOX3 Unknown — Disgenet
HYPERTRICHOSIS, CONGENITAL GENERALIZED, 3, WITH OR WITHOUT GINGIVAL HYPERPLASIA
135400
ABCA5 Unknown — HPO
HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME
MONDO:0019940
ABCC9 Unknown
23307537
GWAS catalog
HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA CANTU TYPE
MONDO:0009406
ABCC9 Causal
30089727 33529173 22610116 31175705 22608503 31828977 34453476
ClinGen, ClinVar, GWAS catalog
KCNJ8 Causal
24176758 24700710
CTD
All11 Causal4 Unknown8
Related Diseases Diseases that share the most curated genes with Hypertrichosis.
5 View disease cluster →
Cantu syndrome 2 shared genesABCC9, KCNJ8 Related via 2 shared genes including ABCC9, KCNJ8. Rubinstein-taybi syndrome 2 shared genesCREBBP, ASXL1 Related via 2 shared genes including CREBBP, ASXL1. X-linked congenital generalized hypertrichosis 1 shared geneSOX3 Related via 1 shared gene including SOX3. SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder 1 shared geneSOX3 Related via 1 shared gene including SOX3. Acromegaloid facial appearance syndrome 1 shared geneABCC9 Related via 1 shared gene including ABCC9.