MCID: HYP638
MIFTS: 16

Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

Categories: Fetal diseases, Neuronal 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 60
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 41
Infantile Hypotonia-Psychomotor Retardation-Characteristic Facies Syndrome 60
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 38
Ihprf Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
hypotonia-speech impairment-severe cognitive delay syndrome
Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:



External Ids:

KEGG 38 H01922
ICD10 via Orphanet 35 Q87.8
Orphanet 60 ORPHA371364

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 hypotonia and infantile 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 hypotonia 30.2 NALCN UNC80
2 infantile hypotonia 30.1 NALCN UNC80
3 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 11.4
4 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 11.4
5 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 11.4
6 unc80 deficiency 10.3
7 hypotonia, infantile, with psychomotor retardation 9.5 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
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3. ( 30103036 )
2019
2
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2). ( 29430593 )
2018
3
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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