MCID: HYP638
MIFTS: 15

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 59
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 40
Infantile Hypotonia-Psychomotor Retardation-Characteristic Facies Syndrome 59
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 37
Ihprf Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
hypotonia-speech impairment-severe cognitive delay syndrome
Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA371364
ICD10 via Orphanet 34 Q87.8
KEGG 37 H01922

Summaries for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

MalaCards based summary : Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome, also known as hypotonia, infantile, with psychomotor retardation and characteristic facies, is related to infantile hypotonia and hypotonia. An important gene associated with Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome is UNC80 (Unc-80 Homolog, NALCN Channel Complex Subunit), 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:

# Related Disease Score Top Affiliating Genes
1 infantile hypotonia 29.3 NALCN UNC80
2 hypotonia 28.8 NALCN UNC80
3 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 11.2
4 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 11.2
5 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 11.2
6 hypotonia, infantile, with psychomotor retardation 9.2 NALCN UNC80

Graphical network of the top 20 diseases related to Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome:



Diseases related to Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

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

Articles related to Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome:

# Title Authors Year
1
Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes. ( 29572195 )
2018

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:

# 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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