KEGG   DISEASE: Warburg micro syndrome
H00792                      Disease                                
Warburg micro syndrome
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.
Congenital malformation
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
(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
Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D
MICRO syndrome: an entity distinct from COFS syndrome.
Am J Med Genet A 128A:235-45 (2004)
PMID:20512159 (RAB3GAP1)
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
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
Eur J Hum Genet 18:1100-6 (2010)
PMID:20967465 (RAB3GAP2)
Borck G, Wunram H, Steiert A, Volk AE, Korber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
Hum Genet 129:45-50 (2011)
PMID:21473985 (RAB18)
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
Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Am J Hum Genet 88:499-507 (2011)
PMID:24239381 (TBC1D20)
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
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
Am J Hum Genet 93:1001-14 (2013)

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