CMCU
MCID: MCC013
MIFTS: 7

Mucocutaneous Ulceration, Chronic (CMCU)

Categories: Genetic diseases

Aliases & Classifications for Mucocutaneous Ulceration, Chronic

MalaCards integrated aliases for Mucocutaneous Ulceration, Chronic:

Name: Mucocutaneous Ulceration, Chronic 58 6
Cmcu 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in first years of life
one family has been reported (last curated january 2019)
favorable response to tnf inhibitors


Classifications:



External Ids:

OMIM 58 618287

Summaries for Mucocutaneous Ulceration, Chronic

MalaCards based summary : Mucocutaneous Ulceration, Chronic, is also known as cmcu. An important gene associated with Mucocutaneous Ulceration, Chronic is RELA (RELA Proto-Oncogene, NF-KB Subunit).

Description from OMIM: 618287

Related Diseases for Mucocutaneous Ulceration, Chronic

Symptoms & Phenotypes for Mucocutaneous Ulceration, Chronic

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
mucosal ulcerations
ileitis

Genitourinary Internal Genitalia Female:
vaginal mucosal ulcerations

Head And Neck Mouth:
oral mucosal ulcerations

Immunology:
no recurrent infections

Clinical features from OMIM:

618287

Drugs & Therapeutics for Mucocutaneous Ulceration, Chronic

Search Clinical Trials , NIH Clinical Center for Mucocutaneous Ulceration, Chronic

Genetic Tests for Mucocutaneous Ulceration, Chronic

Anatomical Context for Mucocutaneous Ulceration, Chronic

Publications for Mucocutaneous Ulceration, Chronic

Variations for Mucocutaneous Ulceration, Chronic

ClinVar genetic disease variations for Mucocutaneous Ulceration, Chronic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RELA NM_021975.4(RELA): c.559+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 65427136: 65427136
2 RELA NM_021975.4(RELA): c.559+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 65659665: 65659665

Expression for Mucocutaneous Ulceration, Chronic

Search GEO for disease gene expression data for Mucocutaneous Ulceration, Chronic.

Pathways for Mucocutaneous Ulceration, Chronic

GO Terms for Mucocutaneous Ulceration, Chronic

Sources for Mucocutaneous Ulceration, Chronic

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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