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

Log in to bookmark this disease

Bookmark This Disease

Subtype of: Hearing loss · Polyneuropathy · Retinitis pigmentosa
Download as CSV Download as PDF
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
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.