Ataxia-hypogonadism-choroidal dystrophy syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
ATAXIA-HYPOGONADISM-CHOROIDAL DYSTROPHY SYNDROME
1180MONDO:0008980
PNPLA6 Causal
24355708 25480986
ClinVar, Disgenet, Orphanet
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Ataxia-hypogonadism-choroidal dystrophy syndrome.
5 View disease cluster →
Boucher-neuhauser syndrome 1 shared genePNPLA6 Related via 1 shared gene including PNPLA6. Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome 1 shared genePNPLA6 Related via 1 shared gene including PNPLA6. Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 1 shared genePNPLA6 Related via 1 shared gene including PNPLA6. retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome 1 shared genePNPLA6 Related via 1 shared gene including PNPLA6. PNPLA6-related spastic paraplegia with or without ataxia 1 shared genePNPLA6 Related via 1 shared gene including PNPLA6.