KEGG DISEASE: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction

KEGG

DISEASE: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction

Entry

H02910                      Disease

Name

Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction

Description

Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction (RCDFRD) is a rare autosomal recessive syndrome affecting kidneys, eyes, and ears. It has been reported that mutations in RRM2B cause this syndrome. RRM2B encodes a subunit of ribonucleotide reductase, playing an essential role in dNTP supply for DNA replication and repair, and mitochondrial DNA synthesis.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02910  Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction

Gene

RRM2B [HSA:50484] [KO:K10808]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Beighton P, Bartmann L, Bingham G, Sellars S

Title

Rod-cone dystrophy, sensorineural deafness, and renal dysfunction: an autosomal recessive syndrome?

Journal

Am J Med Genet 47:832-6 (1993)
DOI:10.1002/ajmg.1320470607

Reference

Authors

Roberts L, Julius S, Dawlat S, Yildiz S, Rebello G, Meldau S, Pillay K, Esterhuizen A, Vorster A, Benefeld G, da Rocha J, Beighton P, Sellars SL, Thandrayen K, Pettifor JM, Ramesar RS

Title

Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.

Journal

Hum Mutat 41:1871-1876 (2020)
DOI:10.1002/humu.24094

LinkDB

» Japanese version

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