IMD66
MCID: IMM220
MIFTS: 15

Immunodeficiency 66 (IMD66)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 66

MalaCards integrated aliases for Immunodeficiency 66:

Name: Immunodeficiency 66 56 29 6
Imd66 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one patient has been reported (last curated april 2020)


Classifications:



External Ids:

OMIM 56 618847
OMIM Phenotypic Series 56 PS300755

Summaries for Immunodeficiency 66

OMIM : 56 Immunodeficiency-66 (IMD66) is an autosomal recessive primary immune disorder caused by defective immune cell migration and chemotaxis resulting from defects in cytoskeletal actin dynamics. Neutrophils are primarily affected, although there may be defects in dendritic cells and T and B cells. The phenotype is characterized by onset of recurrent bacterial infections in infancy. Laboratory studies show normal levels of myeloid and lymphoid cells, but there may be mild thrombocytopenia (summary by Record et al., 2015). (618847)

MalaCards based summary : Immunodeficiency 66, is also known as imd66. An important gene associated with Immunodeficiency 66 is MAL (Mal, T Cell Differentiation Protein). Affiliated tissues include myeloid, neutrophil and b cells, and related phenotype is Decreased hepcidin::fluc mRNA expression.

Related Diseases for Immunodeficiency 66

Symptoms & Phenotypes for Immunodeficiency 66

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
otitis media

Hematology:
thrombocytopenia, mild

Skin Nails Hair Skin:
abscesses, recurrent

Neurologic Central Nervous System:
meningitis

Immunology:
recurrent infections, mainly bacterial
impaired neutrophil migration
normal myeloid and lymphoid cell counts

Clinical features from OMIM:

618847

GenomeRNAi Phenotypes related to Immunodeficiency 66 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased hepcidin::fluc mRNA expression GR00253-A 8.62 MAL MRTFA

Drugs & Therapeutics for Immunodeficiency 66

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 66

Genetic Tests for Immunodeficiency 66

Genetic tests related to Immunodeficiency 66:

# Genetic test Affiliating Genes
1 Immunodeficiency 66 29 MRTFA

Anatomical Context for Immunodeficiency 66

MalaCards organs/tissues related to Immunodeficiency 66:

40
Myeloid, Neutrophil, B Cells

Publications for Immunodeficiency 66

Articles related to Immunodeficiency 66:

# Title Authors PMID Year
1
Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1. 56 6
26224645 2015

Variations for Immunodeficiency 66

ClinVar genetic disease variations for Immunodeficiency 66:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MRTFA NM_020831.6(MRTFA):c.2467A>T (p.Lys823Ter)SNV Pathogenic 869135 22:40813395-40813395 22:40417391-40417391

Expression for Immunodeficiency 66

Search GEO for disease gene expression data for Immunodeficiency 66.

Pathways for Immunodeficiency 66

GO Terms for Immunodeficiency 66

Sources for Immunodeficiency 66

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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