MCID: HYP638
MIFTS: 18

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 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:

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

Summaries for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

KEGG : 37
Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is an autosomal-recessive syndrome characterized by subtle facial dysmorphism, variable degrees of hypotonia, speech impairment, chronic constipation, and intellectual disability. It is caused by mutations in the cation channel NALCN and UNC80. NALCN has a role in basal sodium ion leak conductance in neurons, essential for neuronal function. UNC80 bridges between UNC79 and NALCN. Recently, pathogenic biallelic variants in TBC1-domain-containing kinase (TBCK) were also identified.

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 NALCN (Sodium Leak Channel, Non-Selective), 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

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:

(show all 13)
# Title Authors PMID Year
1
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. 38 71
26708751 2016
2
UNC80 Deficiency 71
28933810 2017
3
UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. 71
26545877 2016
4
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. 71
26708753 2016
5
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. 71
24075186 2013
6
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. 71
23749988 2013
7
Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties. 38
31409833 2019
8
Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities. 38
30771478 2019
9
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3. 38
30103036 2019
10
Periodic breathing in patients with NALCN mutations. 38
29968795 2018
11
Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes. 38
29572195 2018
12
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome. 38
29399786 2018
13
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2). 38
29430593 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 UNC80 NALCN

Sources for Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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