MCID: HYP638
MIFTS: 12

Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

MalaCards integrated aliases for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome:

Name: Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 56
Infantile Hypotonia-Psychomotor Retardation-Characteristic Facies Syndrome 56
Ihprf Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
hypotonia-speech impairment-severe cognitive delay syndrome
Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:



External Ids:

Orphanet 56 ORPHA371364
ICD10 via Orphanet 34 Q87.8

Summaries for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

MalaCards based summary : Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome, also known as infantile hypotonia-psychomotor retardation-characteristic facies syndrome, is related to homozygous familial hypercholesterolemia and iris hypoplasia. An important gene associated with Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome is UNC80 (Unc-80 Homolog, NALCN Activator), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport.

Related Diseases for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

Diseases related to Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 homozygous familial hypercholesterolemia 9.5 NALCN UNC80
2 iris hypoplasia 9.5 NALCN UNC80
3 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 9.4 NALCN UNC80
4 korsakoff's amnesic syndrome 9.2 NALCN UNC80

Symptoms & Phenotypes for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

Drugs & Therapeutics for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

Search Clinical Trials , NIH Clinical Center for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

Genetic Tests for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

Anatomical Context for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

Publications for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

Variations for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

Expression for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

Search GEO for disease gene expression data for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome.

Pathways for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

GO Terms for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

Biological processes related to Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 8.62 NALCN UNC80

Sources for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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34 ICD10 via Orphanet
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59 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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