Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
TRICHOMEGALY-RETINA PIGMENTARY DEGENERATION-DWARFISM SYNDROME
3363MONDO:0010152
PNPLA6 Causal
25480986
ClinVar, Disgenet, Orphanet
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Trichomegaly-retina pigmentary degeneration-dwarfism syndrome.
5 View disease cluster →
Ataxia-hypogonadism-choroidal dystrophy syndrome 1 shared genePNPLA6 Related via 1 shared gene including PNPLA6. 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. 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.