MCID: MLT140
MIFTS: 26

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Bone diseases

Aliases & Classifications for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

MalaCards integrated aliases for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome:

Name: Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 53 37 29 6
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 53 73
Multiple Congenital Anomalies - Hypotonia - Seizures Syndrome 53
Congenital Disorder of Glycosylation Due to Pign Deficiency 53
Pign-Cdg 53
Mcahs1 53

Classifications:



External Ids:

KEGG 37 H01486
UMLS 73 C3279775

Summaries for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

MalaCards based summary : Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, also known as multiple congenital anomalies-hypotonia-seizures syndrome 1, is related to multiple congenital anomalies-hypotonia-seizures syndrome 3 and hypotonia, and has symptoms including muscle spasticity, seizures and tremor. An important gene associated with Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome is PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N), and among its related pathways/superpathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Post-translational modification- synthesis of GPI-anchored proteins.

Related Diseases for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Graphical network of the top 20 diseases related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome:



Diseases related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Symptoms & Phenotypes for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

UMLS symptoms related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome:


muscle spasticity, seizures, tremor

Drugs & Therapeutics for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Search Clinical Trials , NIH Clinical Center for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Genetic Tests for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Genetic tests related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome:

# Genetic test Affiliating Genes
1 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 29

Anatomical Context for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Publications for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Articles related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome:

# Title Authors Year
1
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing. ( 29974678 )
2018
2
Homozygous <i>PIGT</i> Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3. ( 29868109 )
2018
3
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype. ( 27916860 )
2016
4
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. ( 26394714 )
2015
5
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review. ( 25920937 )
2015
6
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. ( 26364997 )
2015
7
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. ( 24906948 )
2014
8
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. ( 21493957 )
2011

Variations for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

ClinVar genetic disease variations for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIGN NM_176787.4(PIGN): c.548_549+6delAGGTTTGT deletion Pathogenic/Likely pathogenic rs779636222 GRCh37 Chromosome 18, 59821772: 59821779
2 PIGN NM_176787.4(PIGN): c.548_549+6delAGGTTTGT deletion Pathogenic/Likely pathogenic rs779636222 GRCh38 Chromosome 18, 62154539: 62154546
3 PIGN NM_176787.4(PIGN): c.674+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 18, 59815446: 59815446
4 PIGN NM_176787.4(PIGN): c.674+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 18, 62148213: 62148213

Expression for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Search GEO for disease gene expression data for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome.

Pathways for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Pathways related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis hsa00563

Pathways related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.13 PIGA PIGN PIGT
2
Show member pathways
10.41 PIGA PIGN PIGT

GO Terms for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Cellular components related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.13 PIGA PIGN PIGT
2 endoplasmic reticulum membrane GO:0005789 8.8 PIGA PIGN PIGT

Biological processes related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 preassembly of GPI anchor in ER membrane GO:0016254 8.96 PIGA PIGN
2 GPI anchor biosynthetic process GO:0006506 8.8 PIGA PIGN PIGT

Sources for Multiple Congenital Anomalies-Hypotonia-Seizures 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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