KEGG DISEASE: Autosomal recessive microcephaly and chorioretinopathy

KEGG

DISEASE: Autosomal recessive microcephaly and chorioretinopathy

Entry

H01880                      Disease

Name

Autosomal recessive microcephaly and chorioretinopathy

Supergrp

Microcephaly syndrome [DS:H02132]

Description

Autosomal-recessive microcephaly and chorioretinopathy (MCCRP) is a rare developmental disorder characterized by primary microcephaly, delayed psychomotor development, growth retardation with dwarfism, and visual impairment. In MCCRP, microcephaly ranges from mild to severe and has variable impact on cognitive performance, ranging from moderate developmental delay to normal intelligence. The features of the visual impairment in MCCRP patients are variable, but the chorioretinopathy is a constant feature and includes typical punched-out lesions that can severely impair vision and occasional retinal folds that can progress to retinal detachment. To date, three responsible genes have been described.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the choroid
    9B61  Choroidal dystrophy
     H01880  Autosomal recessive microcephaly and chorioretinopathy
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06515  Regulation of kinetochore-microtubule interactions
   H01880  Autosomal recessive microcephaly and chorioretinopathy

Network

nt06515 Regulation of kinetochore-microtubule interactions

Gene

(MCCRP1) TUBGCP6 [HSA:85378] [KO:K16573]
(MCCRP2) PLK4 [HSA:10733] [KO:K08863]
(MCCRP3) TUBGCP4 [HSA:27229] [KO:K16571]

Other DBs

ICD-11:

OMIM:

251270 616171 616335

Reference

Authors

McKusick VA, Stauffer M, Knox DL, Clark DB

Title

Chorioretinopathy with hereditary microcephaly.

Journal

Arch Ophthalmol 75:597-600 (1966)
DOI:10.1001/archopht.1966.00970050599003

Reference

Authors

Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, Obringer C, Koob M, Geoffroy V, Marion V, Strahle U, Ostergaard P, Verloes A, Merdes A, Moore AT, Dollfus H

Title

Mutations in TUBGCP4 alter microtubule organization via the gamma-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Journal

Am J Hum Genet 96:666-74 (2015)
DOI:10.1016/j.ajhg.2015.02.011

Reference

Authors

Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H

Title

Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy.

Journal

Eur J Hum Genet 24:1702-1706 (2016)
DOI:10.1038/ejhg.2016.119

Reference

Authors

Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA

Title

Genetic mapping and exome sequencing identify variants associated with five novel diseases.

Journal

PLoS One 7:e28936 (2012)
DOI:10.1371/journal.pone.0028936

Reference

Authors

Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nurnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Muller R, Hoffmann I, Daire VC, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmuller J, Hohne W, Hurles ME, Noegel AA, Baig SM, Nurnberg P, Jackson AP

Title

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.

Journal

Nat Genet 46:1283-92 (2014)
DOI:10.1038/ng.3122

Reference

Authors

Shaheen R, Al Tala S, Almoisheer A, Alkuraya FS

Title

Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.

Journal

J Med Genet 51:814-6 (2014)
DOI:10.1136/jmedgenet-2014-102790

LinkDB

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