Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

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Subtype of: Hearing loss · Polyneuropathy · Retinitis pigmentosa
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
PHARC syndrome
MONDO_0012984
ABHD12 Causal
20797687 24697911 28448692 29571850 32077159
ClinGen, Open Targets
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
MONDO_0012984
ABHD12 Unknown
20797687 22938382 24027063 24697911 25743180 27890673 28448692 29571850 32077159
Open Targets
All1 Causal1 Unknown1
Related Diseases Diseases that share the most curated genes with Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.
5 View disease cluster →
Decreased nerve conduction velocities 1 shared geneABHD12 Related via 1 shared gene including ABHD12. Hyporeflexia 1 shared geneABHD12 Related via 1 shared gene including ABHD12. Distal sensory loss 1 shared geneABHD12 Related via 1 shared gene including ABHD12. Neurodegeneration, childhood-onset, with cerebellar atrophy 1 shared geneABHD12 Related via 1 shared gene including ABHD12. Hereditary ataxia 1 shared geneABHD12 Related via 1 shared gene including ABHD12.