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 53 71
Gridhh 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
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 : 53 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, and has symptoms including seizures, intellectual disability and spasticity. An important gene associated with Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy is IARS (Isoleucyl-TRNA Synthetase). Affiliated tissues include liver.

UniProtKB/Swiss-Prot : 71 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:

53
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

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

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

Muscle Soft Tissue:
hypotonia

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

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


Clinical features from OMIM:

617093

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

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 intellectual disability 31 HP:0001249
3 spasticity 31 occasional (7.5%) HP:0001257
4 failure to thrive 31 HP:0001508
5 global developmental delay 31 HP:0001263
6 microcephaly 31 HP:0000252
7 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
8 decreased liver function 31 occasional (7.5%) HP:0001410
9 intrauterine growth retardation 31 HP:0001511
10 postnatal growth retardation 31 HP:0008897
11 hepatic steatosis 31 occasional (7.5%) HP:0001397
12 elevated hepatic transaminases 31 occasional (7.5%) HP:0002910
13 generalized hypotonia 31 HP:0001290

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:

38
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:

71
# 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
# 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.3521T> A (p.Ile1174Asn) single nucleotide variant Pathogenic rs886037873 GRCh37 Chromosome 9, 94985660: 94985660
3 IARS NM_013417.3(IARS): c.1310C> T (p.Pro437Leu) single nucleotide variant Pathogenic rs886037874 GRCh37 Chromosome 9, 95030577: 95030577
4 IARS NM_013417.3(IARS): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs886037875 GRCh37 Chromosome 9, 95040554: 95040554
5 IARS NM_013417.3(IARS): c.1109T> G (p.Val370Gly) single nucleotide variant Pathogenic rs886037876 GRCh37 Chromosome 9, 95033819: 95033819
6 IARS NM_013417.3(IARS): c.2974A> G (p.Asn992Asp) single nucleotide variant Pathogenic rs886037877 GRCh37 Chromosome 9, 95005524: 95005524

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,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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