GRIDHH
MCID: GRW040
MIFTS: 25
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Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy (GRIDHH)
Categories:
Genetic diseases, Liver diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Growth Retardation, Impaired Intellectual Development, Hypotonia,...
MalaCards integrated aliases for Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
variable severity onset at birth four unrelated patients have been reported (last curated august 2018) HPO:31
growth retardation, impaired intellectual development, hypotonia, and hepatopathy:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Liver diseases
Orphanet: 58
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OMIM® :
57
GRIDHH is an autosomal recessive multisystem disorder characterized by poor overall growth, impaired intellectual development, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016). (617093) (Updated 05-Mar-2021)
MalaCards based summary : Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy, is also known as gridhh. An important gene associated with Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy is IARS1 (Isoleucyl-TRNA Synthetase 1), and among its related pathways/superpathways is Aminoacyl-tRNA biosynthesis. Affiliated tissues include liver and brain, and related phenotypes are intellectual disability and intrauterine growth retardation KEGG : 36 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). UniProtKB/Swiss-Prot : 73 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy: An autosomal recessive disorder characterized by severe growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and hepatic dysfunction. |
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Symptoms & Phenotypes for Growth Retardation, Impaired Intellectual Development, Hypotonia,...
Human phenotypes related to Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy:58 31 (show all 42)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:617093 (Updated 05-Mar-2021) |
Drugs & Therapeutics for Growth Retardation, Impaired Intellectual Development, Hypotonia,...
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MalaCards organs/tissues related to Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy:40
Liver,
Brain
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Articles related to Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy:
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ClinVar genetic disease variations for Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy:6 (show all 11)
UniProtKB/Swiss-Prot genetic disease variations for Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy:73
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Search
GEO
for disease gene expression data for Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy.
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Pathways related to Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy according to KEGG:36
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