IMD61
MCID: IMM198
MIFTS: 19

Immunodeficiency 61 (IMD61)

Categories: Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 61

MalaCards integrated aliases for Immunodeficiency 61:

Name: Immunodeficiency 61 58
Agammaglobulinemia X-Linked Type 2 54 6
Agmx2 58 54
Xla2 58 54
Agammaglobulinemia, X-Linked, Type 2; Agmx2 58
Agammaglobulinemia, X-Linked, Type 2 58
Agammaglobulinemia, X-Linked 2 13
Imd61 58

Characteristics:

OMIM:

58
Miscellaneous:
variable severity
onset in early childhood
two brothers have been reported (last curated april 2019)

Inheritance:
x-linked recessive


HPO:

33
immunodeficiency 61:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 58 300310
MedGen 43 C1845903

Summaries for Immunodeficiency 61

OMIM : 58 Immunodeficiency-61 (IMD61) is an X-linked recessive primary immunodeficiency characterized by onset of recurrent infections in early childhood due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production (summary by Keller et al., 2018). For a general phenotypic description of X-linked agammaglobulinemia, see AGMX1 (300755). (300310)

MalaCards based summary : Immunodeficiency 61, also known as agammaglobulinemia x-linked type 2, is related to cone-rod dystrophy and hearing loss 2. An important gene associated with Immunodeficiency 61 is SH3KBP1 (SH3 Domain Containing Kinase Binding Protein 1). Affiliated tissues include b cells, t cells and colon, and related phenotypes are arthritis and malabsorption

Related Diseases for Immunodeficiency 61

Diseases related to Immunodeficiency 61 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy and hearing loss 2 11.2

Symptoms & Phenotypes for Immunodeficiency 61

Human phenotypes related to Immunodeficiency 61:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 arthritis 33 HP:0001369
2 malabsorption 33 HP:0002024
3 colon cancer 33 HP:0003003
4 agammaglobulinemia 33 HP:0004432
5 recurrent bacterial infections 33 HP:0002718
6 recurrent fever 33 HP:0001954
7 frequent giardia lamblia infestation 33 HP:0005215

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

Respiratory:
respiratory infections, recurrent

Respiratory Nasopharynx:
sinusitis, recurrent

Neurologic Central Nervous System:
impaired adaptive skills, mild

Immunology:
recurrent infections
decreased antibodies
defective b cell response to stimulation at the b-cell receptor
normal levels of circulating b cells
normal t cell levels and function

Neurologic Behavioral Psychiatric Manifestations:
attention deficit-hyperactivity disorder

Head And Neck Ears:
otitis media, recurrent

Clinical features from OMIM:

300310

Drugs & Therapeutics for Immunodeficiency 61

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 61

Genetic Tests for Immunodeficiency 61

Anatomical Context for Immunodeficiency 61

MalaCards organs/tissues related to Immunodeficiency 61:

42
B Cells, T Cells, Colon

Publications for Immunodeficiency 61

Articles related to Immunodeficiency 61:

# Title Authors Year
1
Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency. ( 29636373 )
2018

Variations for Immunodeficiency 61

ClinVar genetic disease variations for Immunodeficiency 61:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SH3KBP1 SH3KBP1, 247.5-KB DEL deletion Pathogenic

Expression for Immunodeficiency 61

Search GEO for disease gene expression data for Immunodeficiency 61.

Pathways for Immunodeficiency 61

GO Terms for Immunodeficiency 61

Sources for Immunodeficiency 61

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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