IMD43
MCID: IMM149
MIFTS: 32

Immunodeficiency 43 (IMD43)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 43

MalaCards integrated aliases for Immunodeficiency 43:

Name: Immunodeficiency 43 57 75
Hypoproteinemia, Hypercatabolic 57 75 29 13 55 6 73
Beta-2-Microglobulin Deficiency 57 75
Hypercatabolic Hypoproteinemia 75 37
B2m Deficiency 57 75
Imd43 57 75
Beta-2-Microglobulin 13

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
some patients may be asymptomatic
two unrelated families have been reported (last curated november 2015)


HPO:

32
immunodeficiency 43:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 241600
MedGen 42 C1855796
MeSH 44 D007153
KEGG 37 H01303
UMLS 73 C1855796

Summaries for Immunodeficiency 43

UniProtKB/Swiss-Prot : 75 Immunodeficiency 43: A disorder characterized by marked reduction in serum concentrations of immunoglobulins and albumin, and hypoproteinemia due to hypercatabolism. Patients may suffer from recurrent respiratory tract infections and severe skin disease.

MalaCards based summary : Immunodeficiency 43, also known as hypoproteinemia, hypercatabolic, is related to myeloma, multiple and kidney disease. An important gene associated with Immunodeficiency 43 is B2M (Beta-2-Microglobulin), and among its related pathways/superpathways is Antigen processing and presentation. Affiliated tissues include skin, t cells and b cells, and related phenotypes are recurrent respiratory infections and hypoplasia of the ulna

Description from OMIM: 241600

Related Diseases for Immunodeficiency 43

Diseases related to Immunodeficiency 43 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 myeloma, multiple 29.8 B2M ALB
2 kidney disease 29.8 B2M ALB
3 urinary tract obstruction 29.7 B2M ALB
4 membranous nephropathy 29.6 B2M ALB
5 nephrotic syndrome 29.6 B2M ALB
6 immunodeficiency, partial combined, with absence of hla determinants and beta-2-microglobulin from lymphocytes 12.1
7 amyloidosis beta2m 11.4
8 amyloidosis 10.2
9 lymphangiectasis 10.2
10 lymphoma 10.1
11 rheumatoid arthritis 10.1
12 arthritis 10.1
13 orthostatic proteinuria 10.0 B2M ALB
14 diffuse glomerulonephritis 10.0 B2M ALB
15 non-secretory myeloma 10.0 B2M ALB
16 danubian endemic familial nephropathy 10.0 B2M ALB
17 hemorrhagic fever 10.0 B2M ALB
18 acute kidney tubular necrosis 10.0 B2M ALB
19 hemorrhagic fever with renal syndrome 10.0 B2M ALB
20 meningoencephalitis 10.0 B2M ALB
21 acute kidney failure 10.0 B2M ALB
22 hydronephrosis 10.0 B2M ALB
23 uremia 10.0 B2M ALB
24 peritonitis 10.0 B2M ALB
25 acquired immunodeficiency syndrome 9.9 B2M ALB
26 urinary system disease 9.9 B2M ALB
27 cystic kidney disease 9.9 B2M ALB
28 chronic kidney failure 9.9 B2M ALB
29 amyloidosis, familial visceral 9.9 FCGRT B2M
30 carpal tunnel syndrome 9.8
31 multiple sclerosis 9.8
32 ovarian cancer 9.8
33 prostate cancer 9.8
34 vesicoureteral reflux 1 9.8
35 lecithin:cholesterol acyltransferase deficiency 9.8
36 mononeuropathy of the median nerve, mild 9.8
37 acute leukemia 9.8
38 b-cell lymphomas 9.8
39 bronchopulmonary dysplasia 9.8
40 diabetes mellitus 9.8
41 dilated cardiomyopathy 9.8
42 hematopoietic stem cell transplantation 9.8
43 hepatitis 9.8
44 leukemia 9.8
45 peripheral t-cell lymphoma 9.8
46 persistent generalized lymphadenopathy 9.8
47 bone disease 9.8
48 sleeping sickness 9.8
49 trypanosomiasis 9.8
50 pre-eclampsia 9.8

Graphical network of the top 20 diseases related to Immunodeficiency 43:



Diseases related to Immunodeficiency 43

Symptoms & Phenotypes for Immunodeficiency 43

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
recurrent respiratory infections (family b)

Skeletal Limbs:
short forearms (family a)
short ulnae (family a)
bowing of the radii (family a)

Immunology:
decreased serum igg
decreased b cells (family b)
decreased nk cells (in some patients)
decreased alpha-beta cd8+ t cells (family b)
increased delta-gamma cd8+ t cells (family b)
more
Respiratory Lung:
bronchiectasis (family b)

Skin Nails Hair Skin:
granulomatous dermatitis (in some patients)
purple-red skin lesions (in some patients)
skin ulcerations (in some patients)

Laboratory Abnormalities:
hypoproteinemia due to hypercatabolism
decreased serum albumin


Clinical features from OMIM:

241600

Human phenotypes related to Immunodeficiency 43:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 hypoplasia of the ulna 32 HP:0003022
3 bronchiectasis 32 HP:0002110
4 igg deficiency 32 HP:0004315
5 hypoalbuminemia 32 HP:0003073
6 radial bowing 32 HP:0002986
7 hypoproteinemia 32 HP:0003075

Drugs & Therapeutics for Immunodeficiency 43

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 43

Genetic Tests for Immunodeficiency 43

Genetic tests related to Immunodeficiency 43:

# Genetic test Affiliating Genes
1 Hypoproteinemia, Hypercatabolic 29 B2M

Anatomical Context for Immunodeficiency 43

MalaCards organs/tissues related to Immunodeficiency 43:

41
Skin, T Cells, B Cells, Nk Cells, Kidney, Bone, Prostate

Publications for Immunodeficiency 43

Articles related to Immunodeficiency 43:

# Title Authors Year
1
Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene. ( 16549777 )
2006
2
Familial hypercatabolic hypoproteinemia. A disorder of endogenous catabolism of albumin and immunoglobulin. ( 2254461 )
1990
3
Hypercatabolic hypoproteinemia with lymphangiectasia of the small bowel. A case report. ( 5946450 )
1966

Variations for Immunodeficiency 43

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 43:

75
# Symbol AA change Variation ID SNP ID
1 B2M p.Ala11Pro VAR_030660 rs104894481

ClinVar genetic disease variations for Immunodeficiency 43:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 B2M NM_004048.2(B2M): c.31G> C (p.Ala11Pro) single nucleotide variant Pathogenic rs104894481 GRCh37 Chromosome 15, 45003775: 45003775
2 B2M NM_004048.2(B2M): c.31G> C (p.Ala11Pro) single nucleotide variant Pathogenic rs104894481 GRCh38 Chromosome 15, 44711577: 44711577
3 B2M NM_004048.2(B2M): c.67+1G> T single nucleotide variant Pathogenic rs863225287 GRCh38 Chromosome 15, 44711614: 44711614
4 B2M NM_004048.2(B2M): c.67+1G> T single nucleotide variant Pathogenic rs863225287 GRCh37 Chromosome 15, 45003812: 45003812
5 B2M NM_004048.2(B2M): c.5C> T (p.Ser2Phe) single nucleotide variant Uncertain significance rs368160918 GRCh38 Chromosome 15, 44711551: 44711551
6 B2M NM_004048.2(B2M): c.5C> T (p.Ser2Phe) single nucleotide variant Uncertain significance rs368160918 GRCh37 Chromosome 15, 45003749: 45003749

Expression for Immunodeficiency 43

Search GEO for disease gene expression data for Immunodeficiency 43.

Pathways for Immunodeficiency 43

Pathways related to Immunodeficiency 43 according to KEGG:

37
# Name Kegg Source Accession
1 Antigen processing and presentation hsa04612

GO Terms for Immunodeficiency 43

Cellular components related to Immunodeficiency 43 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.62 ALB B2M

Biological processes related to Immunodeficiency 43 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 8.96 ALB B2M
2 retina homeostasis GO:0001895 8.62 ALB B2M

Sources for Immunodeficiency 43

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
Content
Loading form....