Details of Disease | DrugMAP

General Information of Disease (ID: DIS15KFI)

Disease Name	Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Synonyms	short stature, hearing loss, retinitis pigmentosa, and distinctive facies; retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome
Disease Hierarchy	DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DIS15KFI: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Disease Identifiers	MONDO ID MONDO_0044634 UMLS CUI C4540367 OMIM ID 617763 MedGen ID 1615526 Orphanet ID 494439

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EXOSC2	OTN6NVKL	Strong	Autosomal recessive	[1]
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References

1	Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet. 2016 Jun;53(6):419-25. doi: 10.1136/jmedgenet-2015-103511. Epub 2016 Feb 3.