KEGG DISEASE: Deafness, cataract, impaired intellectual development, and polyneuropathy

KEGG

DISEASE: Deafness, cataract, impaired intellectual development, and polyneuropathy

Entry

H02634                      Disease

Name

Deafness, cataract, impaired intellectual development, and polyneuropathy

Description

Deafness, cataract, impaired intellectual development, and polyneuropathy (DCIDP) is a novel autosomal recessive syndrome with varying degrees of neurosensorial dysfunctions. DCIDP is caused by mutations in PSMC3 gene, encoding the proteasome ATPase subunit Rpt5. The proteasome is a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins to maintain cellular protein homeostasis and to control the abundance of many regulatory molecules.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H02634  Deafness, cataract, impaired intellectual development, and polyneuropathy

Pathway

hsa03050 Proteasome

Gene

PSMC3 [HSA:5702] [KO:K03065]

Other DBs

ICD-11:

ICD-10:

OMIM:

Reference

Authors

Kroll-Hermi A, Ebstein F, Stoetzel C, Geoffroy V, Schaefer E, Scheidecker S, Bar S, Takamiya M, Kawakami K, Zieba BA, Studer F, Pelletier V, Eyermann C, Speeg-Schatz C, Laugel V, Lipsker D, Sandron F, McGinn S, Boland A, Deleuze JF, Kuhn L, Chicher J, Hammann P, Friant S, Etard C, Kruger E, Muller J, Strahle U, Dollfus H

Title

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.

Journal

EMBO Mol Med 12:e11861 (2020)
DOI:10.15252/emmm.201911861

LinkDB

» Japanese version

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