GRIDHH
MCID: GRW040
MIFTS: 21

Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy (GRIDHH)

Categories: Genetic diseases, Liver diseases

Aliases & Classifications for Growth Retardation, Impaired Intellectual Development, Hypotonia,...

MalaCards integrated aliases for Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy:

Name: Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy 58
Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy 76 6 17
Gridhh 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth
four unrelated patients have been reported (last curated august 2018)


HPO:

33
growth retardation, impaired intellectual development, hypotonia, and hepatopathy:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Growth Retardation, Impaired Intellectual Development, Hypotonia,...

OMIM : 58 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)

MalaCards based summary : Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy, is also known as growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy. An important gene associated with Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy is IARS (Isoleucyl-TRNA Synthetase). Affiliated tissues include liver and skin, and related phenotypes are seizures and spasticity

UniProtKB/Swiss-Prot : 76 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, Impaired Intellectual Development, Hypotonia,...

Symptoms & Phenotypes for Growth Retardation, Impaired Intellectual Development, Hypotonia,...

Human phenotypes related to Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 spasticity 33 occasional (7.5%) HP:0001257
3 sensorineural hearing impairment 33 occasional (7.5%) HP:0000407
4 decreased liver function 33 occasional (7.5%) HP:0001410
5 hepatic steatosis 33 occasional (7.5%) HP:0001397
6 elevated hepatic transaminase 33 occasional (7.5%) HP:0002910
7 intellectual disability 33 HP:0001249
8 failure to thrive 33 HP:0001508
9 global developmental delay 33 HP:0001263
10 microcephaly 33 HP:0000252
11 intrauterine growth retardation 33 HP:0001511
12 postnatal growth retardation 33 HP:0008897
13 hydronephrosis 33 HP:0000126
14 generalized hypotonia 33 HP:0001290
15 duplicated collecting system 33 HP:0000081

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive
intrauterine growth retardation
postnatal growth retardation

Head And Neck Face:
round face

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)

Abdomen External Features:
increased fat in genitalia area

Endocrine Features:
growth hormone resistance

Skeletal:
joint laxity

Genitourinary Kidneys:
hydronephrosis
duplicated collecting system

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)

Skin Nails Hair Skin:
soft translucent hyperelastic skin

Clinical features from OMIM:

617093

Drugs & Therapeutics for Growth Retardation, Impaired Intellectual Development, Hypotonia,...

Search Clinical Trials , NIH Clinical Center for Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy

Genetic Tests for Growth Retardation, Impaired Intellectual Development, Hypotonia,...

Anatomical Context for Growth Retardation, Impaired Intellectual Development, Hypotonia,...

MalaCards organs/tissues related to Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy:

42
Liver, Skin

Publications for Growth Retardation, Impaired Intellectual Development, Hypotonia,...

Articles related to Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy:

# Title Authors Year
1
Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay. ( 27891590 )
2017
2
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. ( 27426735 )
2016

Variations for Growth Retardation, Impaired Intellectual Development, Hypotonia,...

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

76
# 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, Impaired Intellectual Development, Hypotonia, and Hepatopathy:

6 (show all 16)
# 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
13 IARS NM_013417.3(IARS): c.1667T> C (p.Phe556Ser) single nucleotide variant Pathogenic rs1554728327 GRCh37 Chromosome 9, 95027244: 95027244
14 IARS NM_013417.3(IARS): c.1667T> C (p.Phe556Ser) single nucleotide variant Pathogenic rs1554728327 GRCh38 Chromosome 9, 92264962: 92264962
15 IARS NM_013417.3(IARS): c.2215C> T (p.Arg739Cys) single nucleotide variant Pathogenic rs747311061 GRCh37 Chromosome 9, 95015658: 95015658
16 IARS NM_013417.3(IARS): c.2215C> T (p.Arg739Cys) single nucleotide variant Pathogenic rs747311061 GRCh38 Chromosome 9, 92253376: 92253376

Expression for Growth Retardation, Impaired Intellectual Development, Hypotonia,...

Search GEO for disease gene expression data for Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy.

Pathways for Growth Retardation, Impaired Intellectual Development, Hypotonia,...

GO Terms for Growth Retardation, Impaired Intellectual Development, Hypotonia,...

Sources for Growth Retardation, Impaired Intellectual Development, Hypotonia,...

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