MCID: GRW035
MIFTS: 18

Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy

Categories: Genetic diseases, Liver diseases

Aliases & Classifications for Growth Retardation, Intellectual Developmental Disorder,...

MalaCards integrated aliases for Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy:

Name: Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy 57 75 6
Gridhh 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth
three unrelated patients have been reported (last curated august 2016)


HPO:

32
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Growth Retardation, Intellectual Developmental Disorder,...

OMIM : 57 GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016). (617093)

MalaCards based summary : Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy, is also known as gridhh. An important gene associated with Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy is IARS (Isoleucyl-TRNA Synthetase). Affiliated tissues include liver, and related phenotypes are microcephaly and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 75 Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy: An autosomal recessive disorder characterized by severe growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and hepatic dysfunction.

Related Diseases for Growth Retardation, Intellectual Developmental Disorder,...

Symptoms & Phenotypes for Growth Retardation, Intellectual Developmental Disorder,...

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
intrauterine growth retardation
postnatal growth retardation

Neurologic Central Nervous System:
delayed psychomotor development
seizures (1 patient)
spasticity (1 patient)
intellectual disability, variable severity

Laboratory Abnormalities:
abnormal liver enzymes (in some patients)
zinc deficiency
mitochondrial complex i deficiency in some tissues

Head And Neck Head:
microcephaly (-3 to -5 sd)

Muscle Soft Tissue:
hypotonia

Abdomen Liver:
liver dysfunction (in some patients)
steatosis (in some patients)
fibrosis (in some patients)

Head And Neck Ears:
sensorineural hearing loss (1 patient)


Clinical features from OMIM:

617093

Human phenotypes related to Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
3 intellectual disability 32 HP:0001249
4 seizures 32 occasional (7.5%) HP:0001250
5 spasticity 32 occasional (7.5%) HP:0001257
6 global developmental delay 32 HP:0001263
7 generalized hypotonia 32 HP:0001290
8 hepatic steatosis 32 occasional (7.5%) HP:0001397
9 decreased liver function 32 occasional (7.5%) HP:0001410
10 failure to thrive 32 HP:0001508
11 intrauterine growth retardation 32 HP:0001511
12 elevated hepatic transaminases 32 occasional (7.5%) HP:0002910
13 postnatal growth retardation 32 HP:0008897

Drugs & Therapeutics for Growth Retardation, Intellectual Developmental Disorder,...

Search Clinical Trials , NIH Clinical Center for Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy

Genetic Tests for Growth Retardation, Intellectual Developmental Disorder,...

Anatomical Context for Growth Retardation, Intellectual Developmental Disorder,...

MalaCards organs/tissues related to Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy:

41
Liver

Publications for Growth Retardation, Intellectual Developmental Disorder,...

Variations for Growth Retardation, Intellectual Developmental Disorder,...

UniProtKB/Swiss-Prot genetic disease variations for Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy:

75
# Symbol AA change Variation ID SNP ID
1 IARS p.Val370Gly VAR_077055 rs886037876
2 IARS p.Pro437Leu VAR_077056 rs886037874
3 IARS p.Asn992Asp VAR_077057 rs886037877
4 IARS p.Ile1174Asn VAR_077058 rs886037873

ClinVar genetic disease variations for Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 IARS NM_013417.3(IARS): c.1252C> T (p.Arg418Ter) single nucleotide variant Pathogenic rs764500338 GRCh37 Chromosome 9, 95032219: 95032219
2 IARS NM_013417.3(IARS): c.1252C> T (p.Arg418Ter) single nucleotide variant Pathogenic rs764500338 GRCh38 Chromosome 9, 92269937: 92269937
3 IARS NM_013417.3(IARS): c.3521T> A (p.Ile1174Asn) single nucleotide variant Pathogenic rs886037873 GRCh37 Chromosome 9, 94985660: 94985660
4 IARS NM_013417.3(IARS): c.3521T> A (p.Ile1174Asn) single nucleotide variant Pathogenic rs886037873 GRCh38 Chromosome 9, 92223378: 92223378
5 IARS NM_013417.3(IARS): c.1310C> T (p.Pro437Leu) single nucleotide variant Pathogenic rs886037874 GRCh37 Chromosome 9, 95030577: 95030577
6 IARS NM_013417.3(IARS): c.1310C> T (p.Pro437Leu) single nucleotide variant Pathogenic rs886037874 GRCh38 Chromosome 9, 92268295: 92268295
7 IARS NM_013417.3(IARS): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs886037875 GRCh37 Chromosome 9, 95040554: 95040554
8 IARS NM_013417.3(IARS): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs886037875 GRCh38 Chromosome 9, 92278272: 92278272
9 IARS NM_013417.3(IARS): c.1109T> G (p.Val370Gly) single nucleotide variant Pathogenic rs886037876 GRCh37 Chromosome 9, 95033819: 95033819
10 IARS NM_013417.3(IARS): c.1109T> G (p.Val370Gly) single nucleotide variant Pathogenic rs886037876 GRCh38 Chromosome 9, 92271537: 92271537
11 IARS NM_013417.3(IARS): c.2974A> G (p.Asn992Asp) single nucleotide variant Pathogenic rs886037877 GRCh37 Chromosome 9, 95005524: 95005524
12 IARS NM_013417.3(IARS): c.2974A> G (p.Asn992Asp) single nucleotide variant Pathogenic rs886037877 GRCh38 Chromosome 9, 92243242: 92243242

Expression for Growth Retardation, Intellectual Developmental Disorder,...

Search GEO for disease gene expression data for Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy.

Pathways for Growth Retardation, Intellectual Developmental Disorder,...

GO Terms for Growth Retardation, Intellectual Developmental Disorder,...

Sources for Growth Retardation, Intellectual Developmental Disorder,...

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