KEGG DISEASE: Syndromic autosomal recessive mental retardation

DISEASE: Syndromic autosomal recessive mental retardation

Entry

H01911                      Disease

Name

Syndromic autosomal recessive mental retardation

Subgroup

Autosomal recessive mental retardation with variant lissencephaly (MRT34)
Mental retardation, anterior maxillary protrusion, and strabismus (MRAMS)
Hyperphosphatasia with mental retardation syndrome [DS:H01488]

Description

Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date, several genes have been identified for autosomal recessive mental retardation (ARMR). These genes have a variety of functions and participate in multiple biochemical pathways. ARMR is subdivided into syndromic and non-syndromic forms, depending on whether further abnormalities are found or not. Syndromic ARMR is characterized by recognizable dysmorphic features, neurological complications, and/or metabolic abnormalities.

Category

Mental and behavioural disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A00  Disorders of intellectual development
    H01911  Syndromic autosomal recessive mental retardation

Gene

(MRT34) CRADD [HSA:8738] [KO:K02832]
(MRAMS) SOBP [HSA:55084] [KO:K27304]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:21937992

Authors

Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Puttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH

Title

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Journal

Nature 478:57-63 (2011)
DOI:10.1038/nature10423

Reference

PMID:27773430

Authors

Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN

Title

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

Journal

Am J Hum Genet 99:1117-1129 (2016)
DOI:10.1016/j.ajhg.2016.09.010

Reference

PMID:17618476

Authors

Basel-Vanagaite L, Rainshtein L, Inbar D, Gothelf D, Hennekam R, Straussberg R

Title

Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome.

Journal

Am J Med Genet A 143A:1687-91 (2007)
DOI:10.1002/ajmg.a.31810

» Japanese version

All links

Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (3)   
   PubMed (3)   
All databases (9)   

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