IMD73C
MCID: IMM230
MIFTS: 17

Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia (IMD73C)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and...

MalaCards integrated aliases for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia:

Name: Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia 57 12 72 29 6
Imd73c 57 12 72

Characteristics:

HPO:

31
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112062
OMIM® 57 618987
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
MedGen 41 CN283331

Summaries for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and...

UniProtKB/Swiss-Prot : 72 Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia: An autosomal recessive immunologic disorder characterized by recurrent respiratory infections, decreased B cells, hypogammaglobulinemia, and impaired neutrophil chemotaxis. Variable features are urticaria, recurrent erythematous plaques, food allergy, arthralgia, bronchiectasis, and lymphadenopathy. In addition, patients suffer from glomerulonephritis, coagulopathy, multiple hormone deficiencies, and abnormalities of neutrophil granules.

MalaCards based summary : Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia, is also known as imd73c. An important gene associated with Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia is RAC2 (Rac Family Small GTPase 2). Affiliated tissues include neutrophil and b cells, and related phenotypes are recurrent respiratory infections and failure to thrive in infancy

Disease Ontology : 12 A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has material basis in homozygous or compound heterozygous mutation in RAC2 on chromosome 22q12.

More information from OMIM: 618987 PS300755

Related Diseases for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and...

Symptoms & Phenotypes for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and...

Human phenotypes related to Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia:

31 (showing 8, show less)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 very rare (1%) HP:0002205
2 failure to thrive in infancy 31 very rare (1%) HP:0001531
3 urticaria 31 very rare (1%) HP:0001025
4 decreased circulating igg level 31 very rare (1%) HP:0004315
5 decreased circulating total igm 31 very rare (1%) HP:0002850
6 b lymphocytopenia 31 very rare (1%) HP:0010976
7 abnormally low t cell receptor excision circle level 31 very rare (1%) HP:0031545
8 cervical lymphadenopathy 31 HP:0025289

Clinical features from OMIM®:

618987 (Updated 05-Apr-2021)

Drugs & Therapeutics for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and...

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia

Genetic Tests for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and...

Genetic tests related to Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia:

# Genetic test Affiliating Genes
1 Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia 29 RAC2

Anatomical Context for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and...

MalaCards organs/tissues related to Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia:

40
Neutrophil, B Cells

Publications for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and...

Articles related to Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia:

(showing 1, show less)
# Title Authors PMID Year
1
RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency. 6 57
25512081 2015

Variations for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and...

ClinVar genetic disease variations for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAC2 RAC2, TRP56TER Variation Pathogenic 977226 GRCh37:
GRCh38:

Expression for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and...

Search GEO for disease gene expression data for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia.

Pathways for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and...

GO Terms for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and...

Sources for Immunodeficiency 73c with Defective Neutrophil Chemotaxis and...

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