MCID: HYP281
MIFTS: 23

Hypoproteinemia, Hypercatabolic malady

Categories: Genetic diseases (common), Immune diseases

Aliases & Classifications for Hypoproteinemia, Hypercatabolic

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Aliases & Descriptions for Hypoproteinemia, Hypercatabolic:

Name: Hypoproteinemia, Hypercatabolic 50 68 12 48
Hypercatabolic Hypoproteinemia 68 25
Beta-2-Microglobulin Deficiency 68
Beta-2-Microglobulin 12
 
Immunodeficiency 43 68
B2m Deficiency 68
Imd43 68

Characteristics:

HPO:

62
hypoproteinemia, hypercatabolic:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 241600
MedGen35 C1855796
MeSH37 D007153

Summaries for Hypoproteinemia, Hypercatabolic

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UniProtKB/Swiss-Prot:68 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 amyloidosis, and has symptoms including radial bowing, hypoplasia of the ulna and hypoalbuminemia. An important gene associated with Hypoproteinemia, Hypercatabolic is B2M (Beta-2-Microglobulin). Affiliated tissues include skin.

Description from OMIM:50 241600

Related Diseases for Hypoproteinemia, Hypercatabolic

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

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis beta2m11.0
2amyloidosis10.1
3lymphoma10.1
4vesicoureteral reflux10.0ALB, B2M
5glioblastoma multiforme10.0ALB, B2M
6mesangial proliferative glomerulonephritis10.0ALB, B2M
7smoldering myeloma10.0ALB, B2M
8chronic progressive external ophthalmoplegia10.0ALB, B2M
9acute liver failure10.0ALB, B2M
10oculocerebrorenal syndrome10.0ALB, B2M
11pancreatic vasoactive intestinal peptide producing tumor10.0ALB, B2M
12macular degeneration, age-related, 110.0
13multiple sclerosis, disease progression, modifier of10.0
14chronic apical periodontitis9.9ALB, B2M
15pulpitis9.9ALB, B2M
16breast mucoepidermoid carcinoma9.9ALB, B2M
17taylor's syndrome9.9ALB, B2M
18chronic myelomonocytic leukemia9.9ALB, B2M
19rheumatoid arthritis9.9
20multiple myeloma9.9
21arthritis9.9
22hepatitis9.9
23myeloma9.9
24prostatitis9.9
25tuberculosis9.9
26atypical follicular adenoma9.8ALB, B2M
27mononeuritis9.8ALB, B2M
28central pontine myelinolysis9.7ALB, B2M
29cpt deficiency, hepatic, type ia9.7ALB, B2M
30prostate cancer9.7
31breast cancer9.7
32acute leukemia9.7
33b-cell lymphomas9.7
34dilated cardiomyopathy9.7
35hematopoietic stem cell transplantation9.7
36leukemia9.7
37peripheral t-cell lymphoma9.7
38persistent generalized lymphadenopathy9.7
39trypanosomiasis9.7
40pre-eclampsia9.7
41prostatic hypertrophy9.7
42hepatorenal syndrome9.7
43nephrotic syndrome9.7
44hepatic coma9.7
45dementia9.7
46eclampsia9.7
47hepatitis c9.7
48ovarian cancer9.7
49amyloid tumor9.7
50hyperthyroidism9.7

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



Diseases related to hypoproteinemia, hypercatabolic

Symptoms for Hypoproteinemia, Hypercatabolic

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Symptoms by clinical synopsis from OMIM:

241600

Clinical features from OMIM:

241600

HPO human phenotypes related to Hypoproteinemia, Hypercatabolic:

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

Drugs & Therapeutics for Hypoproteinemia, Hypercatabolic

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hypoproteinemia, Hypercatabolic

Genetic Tests for Hypoproteinemia, Hypercatabolic

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Genetic tests related to Hypoproteinemia, Hypercatabolic:

id Genetic test Affiliating Genes
1 Hypoproteinemia, Hypercatabolic25

Anatomical Context for Hypoproteinemia, Hypercatabolic

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MalaCards organs/tissues related to Hypoproteinemia, Hypercatabolic:

34
Skin

Animal Models for Hypoproteinemia, Hypercatabolic or affiliated genes

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Publications for Hypoproteinemia, Hypercatabolic

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Variations for Hypoproteinemia, Hypercatabolic

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

68
id Symbol AA change Variation ID SNP ID
1B2Mp.Ala11ProVAR_030660rs104894481

Clinvar genetic disease variations for Hypoproteinemia, Hypercatabolic:

5
id Gene Variation Type Significance SNP ID Assembly Location
1B2MNM_004048.2(B2M): c.31G> C (p.Ala11Pro)single nucleotide variantPathogenicrs104894481GRCh37Chr 15, 45003775: 45003775
2B2MNM_004048.2(B2M): c.67+1G> Tsingle nucleotide variantPathogenicrs863225287GRCh38Chr 15, 44711614: 44711614

Expression for genes affiliated with Hypoproteinemia, Hypercatabolic

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

Pathways for genes affiliated with Hypoproteinemia, Hypercatabolic

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GO Terms for genes affiliated with Hypoproteinemia, Hypercatabolic

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

idNameGO IDScoreTop Affiliating Genes
1retina homeostasisGO:00018959.3ALB, B2M

Sources for Hypoproteinemia, Hypercatabolic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet