MCID: HYP281
MIFTS: 22

Hypoproteinemia, Hypercatabolic malady

Genetic diseases (common) category

Aliases & Classifications for Hypoproteinemia, Hypercatabolic

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Aliases & Descriptions for Hypoproteinemia, Hypercatabolic:

Name: Hypoproteinemia, Hypercatabolic 49 11 47
Hypercatabolic Hypoproteinemia 67
 
Hycathyp 67


Classifications:



External Ids:

OMIM49 241600
MedGen34 C1855796

Summaries for Hypoproteinemia, Hypercatabolic

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UniProtKB/Swiss-Prot:67 Hypercatabolic hypoproteinemia: Affected individuals show marked reduction in serum concentrations of immunoglobulin and albumin, probably due to rapid degradation.

MalaCards based summary: Hypoproteinemia, Hypercatabolic, also known as hypercatabolic hypoproteinemia, is related to non-congenital cyst of kidney and vascular skin disease, and has symptoms including autosomal recessive inheritance, radial bowing and hypoplasia of the ulna. An important gene associated with Hypoproteinemia, Hypercatabolic is B2M (Beta-2-Microglobulin).

Description from OMIM:49 241600

Related Diseases for Hypoproteinemia, Hypercatabolic

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Graphical network of 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:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 radial bowing HP:0002986
3 hypoplasia of the ulna HP:0003022
4 hypoalbuminemia HP:0003073
5 hypoproteinemia HP:0003075
6 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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Anatomical Context for Hypoproteinemia, Hypercatabolic

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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:

67
id Symbol AA change Variation ID SNP ID
1B2Mp.Ala11ProVAR_030660

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
2B2MB2M, IVS1DS, G-T, +1single nucleotide variantPathogenic

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
2immune responseGO:00069558.7B2M, FCGRT

Sources for Hypoproteinemia, Hypercatabolic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet