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 ⁵⁷ ⁷⁴

Gridhh ⁵⁷ ⁷⁴

Growth Delay-Intellectual Disability-Hepatopathy Syndrome ⁵⁹

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Rare hepatic diseases

External Ids:

OMIM ⁵⁷ 617093

MeSH ⁴⁴ D006130 D008107 D008607 more

Orphanet ⁵⁹ ORPHA541423

MedGen ⁴² C4310720 CN238100

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

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)

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). Affiliated tissues include liver and skin, and related phenotypes are seizures and spasticity

UniProtKB/Swiss-Prot : ⁷⁴ 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:

³² (show all 17)

#	Description	HPO Frequency	HPO Source Accession
1	seizures ³²	occasional (7.5%)	HP:0001250
2	spasticity ³²	occasional (7.5%)	HP:0001257
3	sensorineural hearing impairment ³²	occasional (7.5%)	HP:0000407
4	decreased liver function ³²	occasional (7.5%)	HP:0001410
5	hepatic steatosis ³²	occasional (7.5%)	HP:0001397
6	elevated hepatic transaminase ³²	occasional (7.5%)	HP:0002910
7	intellectual disability ³²		HP:0001249
8	failure to thrive ³²		HP:0001508
9	global developmental delay ³²		HP:0001263
10	microcephaly ³²		HP:0000252
11	generalized hypotonia ³²		HP:0001290
12	intrauterine growth retardation ³²		HP:0001511
13	postnatal growth retardation ³²		HP:0008897
14	joint laxity ³²		HP:0001388
15	hydronephrosis ³²		HP:0000126
16	round face ³²		HP:0000311
17	duplicated collecting system ³²		HP:0000081

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Genitourinary Kidneys:
hydronephrosis
duplicated collecting system

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

Head And Neck Face:
round face

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:

⁴¹

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	PMID	Year
1	Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay. ⁸ ⁷¹	Orenstein N...Muenke M	27891590	2017
2	Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. ⁸ ⁷¹	Kopajtich R...Staufner C	27426735	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	IARS1	Isoleucyl-TRNA Synthetase 1	Protein Coding	1569.06	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁴ GeneCards inferred via : Disorders Variants (show sections)	27891590 27426735

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

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

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	IARS1	NM_013417.3(IARS1): c.1667T> C (p.Phe556Ser)	single nucleotide variant	Pathogenic	rs1554728327	9:95027244-95027244	9:92264962-92264962
2	IARS1	NM_013417.3(IARS1): c.2215C> T (p.Arg739Cys)	single nucleotide variant	Pathogenic	rs747311061	9:95015658-95015658	9:92253376-92253376
3	IARS1	NM_013417.3(IARS1): c.1252C> T (p.Arg418Ter)	single nucleotide variant	Pathogenic	rs764500338	9:95032219-95032219	9:92269937-92269937
4	IARS1	NM_013417.3(IARS1): c.3521T> A (p.Ile1174Asn)	single nucleotide variant	Pathogenic	rs886037873	9:94985660-94985660	9:92223378-92223378
5	IARS1	NM_013417.3(IARS1): c.1310C> T (p.Pro437Leu)	single nucleotide variant	Pathogenic	rs886037874	9:95030577-95030577	9:92268295-92268295
6	IARS1	NM_013417.3(IARS1): c.760C> T (p.Arg254Ter)	single nucleotide variant	Pathogenic	rs886037875	9:95040554-95040554	9:92278272-92278272
7	IARS1	NM_013417.3(IARS1): c.1109T> G (p.Val370Gly)	single nucleotide variant	Pathogenic	rs886037876	9:95033819-95033819	9:92271537-92271537
8	IARS1	NM_013417.3(IARS1): c.2974A> G (p.Asn992Asp)	single nucleotide variant	Pathogenic	rs886037877	9:95005524-95005524	9:92243242-92243242
9	IARS1	NM_013417.3(IARS1): c.1358G> A (p.Arg453His)	single nucleotide variant	Uncertain significance		9:95030529-95030529	9:92268247-92268247

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

⁷⁴

#	Symbol	AA change	Variation ID	SNP ID
1	IARS1	p.Val370Gly	VAR_077055	rs886037876
2	IARS1	p.Pro437Leu	VAR_077056	rs886037874
3	IARS1	p.Asn992Asp	VAR_077057	rs886037877
4	IARS1	p.Ile1174Asn	VAR_077058	rs886037873

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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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¹ BioSystems

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²³ GeneHancer via GeneCards

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⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

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,...

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

UniProtKB/Swiss-Prot 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,...