Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Liver diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 617093

MeSH ⁴⁵ D006130 D008107 D008607 more

MedGen ⁴³ C4310720 CN238100

EFO ¹⁷ EFO_0009155

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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.

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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:

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

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

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

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

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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

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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 )	Orenstein N...Muenke M	2017
2	Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. ( 27426735 )	Kopajtich R...Staufner C	2016

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

Genes related to Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	IARS	Isoleucyl-TRNA Synthetase	Protein Coding	1200	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶	27426735 27891590

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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

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

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

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

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

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⁷⁶ UniProtKB/Swiss-Prot

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

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

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

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

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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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:

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

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

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

Genes related to Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy (1 elite genes):

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

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

ClinVar genetic disease variations for Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy:

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

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,...