KEGG DISEASE: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy

DISEASE: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy

Entry

H02437                      Disease

Name

Growth retardation, impaired intellectual development, hypotonia, and hepatopathy

Description

Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) is a prenatal onset syndrome caused by bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS).

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02437 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy

Pathway

hsa00970

Aminoacyl-tRNA biosynthesis

Gene

IARS1 [HSA:3376] [KO:K01870]

Other DBs

ICD-11:

LD90.Y

ICD-10:

Q89.7

OMIM:

617093

Reference

PMID:27426735

Authors

Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kolker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Muller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C

Title

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

Journal

Am J Hum Genet 99:414-22 (2016)
DOI:10.1016/j.ajhg.2016.05.027

Reference

PMID:27891590

Authors

Orenstein N, Weiss K, Oprescu SN, Shapira R, Kidron D, Vanagaite-Basel L, Antonellis A, Muenke M

Title

Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.

Journal

Clin Genet 91:913-917 (2017)
DOI:10.1111/cge.12930

LinkDB

» Japanese version

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