IMD43
MCID: HYP281
MIFTS: 23

Hypoproteinemia, Hypercatabolic (IMD43) malady

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Hypoproteinemia, Hypercatabolic

Aliases & Descriptions for Hypoproteinemia, Hypercatabolic:

Name: Hypoproteinemia, Hypercatabolic 54 66 13 52 69
Hypercatabolic Hypoproteinemia 66 29
Beta-2-Microglobulin Deficiency 66
Beta-2-Microglobulin 13
Immunodeficiency 43 66
B2m Deficiency 66
Imd43 66

Characteristics:

HPO:

32
hypoproteinemia, hypercatabolic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 241600
MedGen 40 C1855796
MeSH 42 D007153

Summaries for Hypoproteinemia, Hypercatabolic

UniProtKB/Swiss-Prot : 66 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 : Hypoproteinemia, Hypercatabolic, also known as hypercatabolic hypoproteinemia, is related to amyloidosis beta2m and congenital nystagmus, and has symptoms including hypoplasia of the ulna, igg deficiency and hypoalbuminemia. An important gene associated with Hypoproteinemia, Hypercatabolic is B2M (Beta-2-Microglobulin). Affiliated tissues include skin.

Description from OMIM: 241600

Related Diseases for Hypoproteinemia, Hypercatabolic

Diseases related to Hypoproteinemia, Hypercatabolic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
id Related Disease Score Top Affiliating Genes
1 amyloidosis beta2m 10.8
2 congenital nystagmus 10.1 ALB B2M
3 gliosarcoma 10.1 ALB B2M
4 angiokeratoma 10.0 ALB B2M
5 venezuelan equine encephalitis 10.0 ALB B2M
6 malignant hyperthermia susceptibility 1 10.0 ALB B2M
7 idiopathic juvenile osteoporosis 10.0 ALB B2M
8 hereditary alpha tryptasemia syndrome 10.0 ALB B2M
9 plummer's disease 10.0 ALB B2M
10 early yaws 10.0 ALB B2M
11 henoch-schoenlein purpura 10.0 ALB B2M
12 acute lymphoblastic leukemia, childhood 10.0 ALB B2M
13 acute necrotizing encephalitis 10.0 ALB B2M
14 anterior foramen magnum meningioma 10.0 ALB B2M
15 uterine ligament serous adenocarcinoma 10.0 ALB B2M
16 bile duct mucoepidermoid carcinoma 10.0 ALB B2M
17 sclerosing adenosis of breast 10.0 ALB B2M
18 biliary cirrhosis, primary, 2 10.0 ALB B2M
19 amyloidosis 10.0
20 calcinosis 10.0 ALB B2M
21 chronic myocardial ischemia 9.9 ALB B2M
22 lymphoma 9.9
23 heart valve disease 9.9 ALB B2M
24 lung giant cell carcinoma 9.9 ALB B2M
25 cutis laxa, autosomal recessive, type ib 9.8 ALB B2M
26 nasu-hakola disease 9.8 B2M FCGRT
27 gilles de la tourette syndrome 9.7 ALB B2M FCGRT
28 arthritis 9.7
29 prostatitis 9.7
30 hepatitis 9.7
31 tuberculosis 9.7
32 rheumatoid arthritis 9.7
33 multiple myeloma 9.7
34 acute leukemia 9.6
35 dementia 9.6
36 eclampsia 9.6
37 b-cell lymphomas 9.6
38 dilated cardiomyopathy 9.6
39 hepatitis c 9.6
40 hematopoietic stem cell transplantation 9.6
41 ovarian cancer 9.6
42 leukemia 9.6
43 amyloid tumor 9.6
44 peripheral t-cell lymphoma 9.6
45 hyperthyroidism 9.6
46 sporadic breast cancer 9.6
47 persistent generalized lymphadenopathy 9.6
48 trypanosomiasis 9.6
49 aids dementia complex 9.6
50 pre-eclampsia 9.6

Graphical network of the top 20 diseases related to Hypoproteinemia, Hypercatabolic:



Diseases related to Hypoproteinemia, Hypercatabolic

Symptoms & Phenotypes for Hypoproteinemia, Hypercatabolic

Symptoms by clinical synopsis from OMIM:

241600

Clinical features from OMIM:

241600

Human phenotypes related to Hypoproteinemia, Hypercatabolic:

32
id Description HPO Frequency HPO Source Accession
1 hypoplasia of the ulna 32 HP:0003022
2 igg deficiency 32 HP:0004315
3 hypoalbuminemia 32 HP:0003073
4 radial bowing 32 HP:0002986
5 hypoproteinemia 32 HP:0003075

Drugs & Therapeutics for Hypoproteinemia, Hypercatabolic

Search Clinical Trials , NIH Clinical Center for Hypoproteinemia, Hypercatabolic

Genetic Tests for Hypoproteinemia, Hypercatabolic

Genetic tests related to Hypoproteinemia, Hypercatabolic:

id Genetic test Affiliating Genes
1 Hypoproteinemia, Hypercatabolic 29

Anatomical Context for Hypoproteinemia, Hypercatabolic

MalaCards organs/tissues related to Hypoproteinemia, Hypercatabolic:

39
Skin

Publications for Hypoproteinemia, Hypercatabolic

Variations for Hypoproteinemia, Hypercatabolic

UniProtKB/Swiss-Prot genetic disease variations for Hypoproteinemia, Hypercatabolic:

66
id Symbol AA change Variation ID SNP ID
1 B2M p.Ala11Pro VAR_030660 rs104894481

ClinVar genetic disease variations for Hypoproteinemia, Hypercatabolic:

6
id 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.67+1G> T single nucleotide variant Pathogenic rs863225287 GRCh38 Chromosome 15, 44711614: 44711614

Expression for Hypoproteinemia, Hypercatabolic

Search GEO for disease gene expression data for Hypoproteinemia, Hypercatabolic.

Pathways for Hypoproteinemia, Hypercatabolic

GO Terms for Hypoproteinemia, Hypercatabolic

Cellular components related to Hypoproteinemia, Hypercatabolic according to GeneCards Suite gene sharing:

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

Biological processes related to Hypoproteinemia, Hypercatabolic according to GeneCards Suite gene sharing:

id 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 Hypoproteinemia, Hypercatabolic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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