IMD57
MCID: IMM192
MIFTS: 12

Immunodeficiency 57 (IMD57)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 57

MalaCards integrated aliases for Immunodeficiency 57:

Name: Immunodeficiency 57 57 6
Imd57 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
three consanguineous middle eastern families have been reported (last curated september 2018)


Classifications:



External Ids:

OMIM 57 618108

Summaries for Immunodeficiency 57

MalaCards based summary : Immunodeficiency 57, is also known as imd57. An important gene associated with Immunodeficiency 57 is RIPK1 (Receptor Interacting Serine/Threonine Kinase 1). Affiliated tissues include t cells, lung and skin.

Description from OMIM: 618108

Related Diseases for Immunodeficiency 57

Symptoms & Phenotypes for Immunodeficiency 57

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Immunology:
recurrent infections
hypogammaglobulinemia (in some patients)
decreased nk cells (in some patients)
t-cell lymphopenia
decreased b cells (in some patients)
more
Respiratory Lung:
bronchiectasis
chronic lung disease

Skeletal:
inflammatory polyarthritis

Respiratory:
recurrent respiratory infections

Abdomen Gastrointestinal:
diarrhea
gastritis
inflammatory bowel disease
chronic active inflammation

Head And Neck Mouth:
mouth ulcers

Skin Nails Hair Skin:
skin rash (in some patients)
lymphocytic vasculitis (in some patients)


Clinical features from OMIM:

618108

Drugs & Therapeutics for Immunodeficiency 57

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 57

Genetic Tests for Immunodeficiency 57

Anatomical Context for Immunodeficiency 57

MalaCards organs/tissues related to Immunodeficiency 57:

41
T Cells, Lung, Skin, B Cells, Nk Cells

Publications for Immunodeficiency 57

Variations for Immunodeficiency 57

ClinVar genetic disease variations for Immunodeficiency 57:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RIPK1 RIPK1, 4-BP DEL deletion Pathogenic
2 RIPK1 RIPK1, 21-BP DEL deletion Pathogenic
3 RIPK1 RIPK1, 2,064-BP DEL deletion Pathogenic

Expression for Immunodeficiency 57

Search GEO for disease gene expression data for Immunodeficiency 57.

Pathways for Immunodeficiency 57

GO Terms for Immunodeficiency 57

Sources for Immunodeficiency 57

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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