IMD80
MCID: IMM243
MIFTS: 12

Immunodeficiency 80 with or Without Congenital Cardiomyopathy (IMD80)

Categories: Cardiovascular diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 80 with or Without Congenital Cardiomyopathy

MalaCards integrated aliases for Immunodeficiency 80 with or Without Congenital Cardiomyopathy:

Name: Immunodeficiency 80 with or Without Congenital Cardiomyopathy 57
Immunodeficiency 80 with or Without Cardiomyopathy 57
Mcm10 Deficiency 57
Imd80 57

Classifications:



External Ids:

OMIM® 57 619313
OMIM Phenotypic Series 57 PS300755

Summaries for Immunodeficiency 80 with or Without Congenital Cardiomyopathy

OMIM® : 57 Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80) is an autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported (summary by Baxley et al., 2021). (619313) (Updated 20-May-2021)

MalaCards based summary : Immunodeficiency 80 with or Without Congenital Cardiomyopathy, is also known as immunodeficiency 80 with or without cardiomyopathy. An important gene associated with Immunodeficiency 80 with or Without Congenital Cardiomyopathy is MCM10 (Minichromosome Maintenance 10 Replication Initiation Factor). Affiliated tissues include spleen, thymus and nk cells.

Related Diseases for Immunodeficiency 80 with or Without Congenital Cardiomyopathy

Symptoms & Phenotypes for Immunodeficiency 80 with or Without Congenital Cardiomyopathy

Clinical features from OMIM®:

619313 (Updated 20-May-2021)

Drugs & Therapeutics for Immunodeficiency 80 with or Without Congenital Cardiomyopathy

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 80 with or Without Congenital Cardiomyopathy

Genetic Tests for Immunodeficiency 80 with or Without Congenital Cardiomyopathy

Anatomical Context for Immunodeficiency 80 with or Without Congenital Cardiomyopathy

MalaCards organs/tissues related to Immunodeficiency 80 with or Without Congenital Cardiomyopathy:

40
Spleen, Thymus, Nk Cells

Publications for Immunodeficiency 80 with or Without Congenital Cardiomyopathy

Articles related to Immunodeficiency 80 with or Without Congenital Cardiomyopathy:

# Title Authors PMID Year
1
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening. 57 61
33712616 2021
2
Human NK cell deficiency as a result of biallelic mutations in MCM10. 57 61
32865517 2020
3
Slx5/Slx8 Promotes Replication Stress Tolerance by Facilitating Mitotic Progression. 61
27134171 2016
4
Mcm10 deficiency causes defective-replisome-induced mutagenesis and a dependency on error-free postreplicative repair. 61
24674891 2014

Variations for Immunodeficiency 80 with or Without Congenital Cardiomyopathy

Expression for Immunodeficiency 80 with or Without Congenital Cardiomyopathy

Search GEO for disease gene expression data for Immunodeficiency 80 with or Without Congenital Cardiomyopathy.

Pathways for Immunodeficiency 80 with or Without Congenital Cardiomyopathy

GO Terms for Immunodeficiency 80 with or Without Congenital Cardiomyopathy

Sources for Immunodeficiency 80 with or Without Congenital Cardiomyopathy

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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