KEGG DISEASE: Martsolf syndrome

DISEASE: Martsolf syndrome

Entry

H00797                      Disease

Name

Martsolf syndrome

Description

Martsolf syndrome is a rare autosomal recessive condition that shows symptoms similar to Warburg Micro syndrome. It is characterized by severe mental retardation, congenital cataract, microcephaly, bone and joint anomalies, and genital hypoplasia.

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
    H00797  Martsolf syndrome

Gene

(MARTS1) RAB3GAP2 [HSA:25782] [KO:K19937]
(MARTS2) RAB3GAP1 [HSA:22930] [KO:K18270]

Other DBs

ICD-11:

LD2F.1Y

MeSH:

C536028

OMIM:

212720 619420

Reference

PMID:2738902

Authors

Harbord MG, Baraitser M, Wilson J

Title

Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.

Journal

J Med Genet 26:397-400 (1989)
DOI:10.1136/jmg.26.6.397

Reference

PMID:17394201

Authors

Ehara H, Utsunomiya Y, Ieshima A, Maegaki Y, Nishimura G, Takeshita K, Ohno K

Title

Martsolf syndrome in Japanese siblings.

Journal

Am J Med Genet A 143A:973-8 (2007)
DOI:10.1002/ajmg.a.31626

Reference

PMID:16532399 (MARTS1)

Authors

Aligianis IA, Morgan NV, Mione M, Johnson CA, Rosser E, Hennekam RC, Adams G, Trembath RC, Pilz DT, Stoodley N, Moore AT, Wilson S, Maher ER

Title

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

Journal

Am J Hum Genet 78:702-7 (2006)
DOI:10.1086/502681

Reference

PMID:23420520 (MARTS2)

Authors

Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, Garcia-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA

Title

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

Journal

Hum Mutat 34:686-96 (2013)
DOI:10.1002/humu.22296

LinkDB

» Japanese version

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