KEGG DISEASE: Warburg micro syndrome

DISEASE: Warburg micro syndrome

Entry

H00792                      Disease

Name

Warburg micro syndrome

Description

Warburg micro syndrome (WARBM) is a rare, autosomal recessive condition characterized by congenital microcephaly, mental retardation, microcornea, cataracts, hypotonic diplegia and hypothalamic hypogonadism. The neurological manifestations including corpus callosum hypoplasia, cortical dystrophy, and microphthalmia are severe in Warburg micro syndrome.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H00792  Warburg micro syndrome

Gene

(WARBM1) RAB3GAP1 [HSA:22930] [KO:K18270]
(WARBM2) RAB3GAP2 [HSA:25782] [KO:K19937]
(WARBM3) RAB18 [HSA:22931] [KO:K07910]
(WARBM4) TBC1D20 [HSA:128637] [KO:K20372]

Other DBs

ICD-11:

LD20.1

ICD-10:

Q04.3

MeSH:

C536681

OMIM:

600118 614225 614222 615663

Reference

PMID:15216543

Authors

Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D

Title

MICRO syndrome: an entity distinct from COFS syndrome.

Journal

Am J Med Genet A 128A:235-45 (2004)
DOI:10.1002/ajmg.a.30060

Reference

PMID:20512159 (RAB3GAP1)

Authors

Morris-Rosendahl DJ, Segel R, Born AP, Conrad C, Loeys B, Brooks SS, Muller L, Zeschnigk C, Botti C, Rabinowitz R, Uyanik G, Crocq MA, Kraus U, Degen I, Faes F

Title

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

Journal

Eur J Hum Genet 18:1100-6 (2010)
DOI:10.1038/ejhg.2010.79

Reference

PMID:20967465 (RAB3GAP2)

Authors

Borck G, Wunram H, Steiert A, Volk AE, Korber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C

Title

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

Journal

Hum Genet 129:45-50 (2011)
DOI:10.1007/s00439-010-0896-2

Reference

PMID:21473985 (RAB18)

Authors

Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Muller F, Maher ER, Barr FA, Aligianis IA

Title

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Journal

Am J Hum Genet 88:499-507 (2011)
DOI:10.1016/j.ajhg.2011.03.012

Reference

PMID:24239381 (TBC1D20)

Authors

Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ

Title

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.

Journal

Am J Hum Genet 93:1001-14 (2013)
DOI:10.1016/j.ajhg.2013.10.011

» Japanese version

All links

Disease (4)   
   OMIM (4)   
Gene (8)   
   KEGG ORTHOLOGY (4)   
   KEGG GENES (4)   
Literature (5)   
   PubMed (5)   
All databases (17)   

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