MCID: MTR064
MIFTS: 9

Maternal Uniparental Disomy of Chromosome 22

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Maternal Uniparental Disomy of Chromosome 22

MalaCards integrated aliases for Maternal Uniparental Disomy of Chromosome 22:

Name: Maternal Uniparental Disomy of Chromosome 22 58
Upd(22)mat 58

Characteristics:

Orphanet epidemiological data:

58
maternal uniparental disomy of chromosome 22
Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q99.8
Orphanet 58 ORPHA96188

Summaries for Maternal Uniparental Disomy of Chromosome 22

MalaCards based summary : Maternal Uniparental Disomy of Chromosome 22, also known as upd(22)mat, is related to megalencephalic leukoencephalopathy with subcortical cysts 1 and maternal uniparental disomy. An important gene associated with Maternal Uniparental Disomy of Chromosome 22 is MLC1 (Modulator Of VRAC Current 1). Affiliated tissues include placenta.

Related Diseases for Maternal Uniparental Disomy of Chromosome 22

Symptoms & Phenotypes for Maternal Uniparental Disomy of Chromosome 22

Drugs & Therapeutics for Maternal Uniparental Disomy of Chromosome 22

Search Clinical Trials , NIH Clinical Center for Maternal Uniparental Disomy of Chromosome 22

Genetic Tests for Maternal Uniparental Disomy of Chromosome 22

Anatomical Context for Maternal Uniparental Disomy of Chromosome 22

MalaCards organs/tissues related to Maternal Uniparental Disomy of Chromosome 22:

40
Placenta

Publications for Maternal Uniparental Disomy of Chromosome 22

Articles related to Maternal Uniparental Disomy of Chromosome 22:

# Title Authors PMID Year
1
A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22. 61
28840990 2017
2
Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility. 61
25118026 2015
3
Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta. 61
10589061 1999

Variations for Maternal Uniparental Disomy of Chromosome 22

Expression for Maternal Uniparental Disomy of Chromosome 22

Search GEO for disease gene expression data for Maternal Uniparental Disomy of Chromosome 22.

Pathways for Maternal Uniparental Disomy of Chromosome 22

GO Terms for Maternal Uniparental Disomy of Chromosome 22

Sources for Maternal Uniparental Disomy of Chromosome 22

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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