MCID: MTR064
MIFTS: 7

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 59
Upd(22)mat 59

Characteristics:

Orphanet epidemiological data:

59
maternal uniparental disomy of chromosome 22
Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

Orphanet 59 ORPHA96188
ICD10 via Orphanet 34 Q99.8

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. An important gene associated with Maternal Uniparental Disomy of Chromosome 22 is MLC1 (Megalencephalic Leukoencephalopathy With Subcortical Cysts 1).

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

Publications for Maternal Uniparental Disomy of Chromosome 22

Articles related to Maternal Uniparental Disomy of Chromosome 22:

# Title Authors 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. ( 28840990 )
2017

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 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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