MCID: HYP281
MIFTS: 22

Hypoproteinemia, Hypercatabolic malady

Genetic diseases (common) category

Aliases & Classifications for Hypoproteinemia, Hypercatabolic

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Sources:
46OMIM, 9diseasecard, 44Novoseek
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Aliases & Descriptions for Hypoproteinemia, Hypercatabolic:

Name: Hypoproteinemia, Hypercatabolic 46 9 44


Classifications:



External Ids:

OMIM46 241600

Summaries for Hypoproteinemia, Hypercatabolic

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MalaCards based summary: Hypoproteinemia, Hypercatabolic is related to chronic pyelonephritis and pyelonephritis, 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). The compounds polyether sulfone and iopentol have been mentioned in the context of this disorder.

Description from OMIM:46 241600

Related Diseases for Hypoproteinemia, Hypercatabolic

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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:

(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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Drug clinical trials:

Search ClinicalTrials for Hypoproteinemia, Hypercatabolic

Search 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:

63
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

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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Compounds for genes affiliated with Hypoproteinemia, Hypercatabolic

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Compounds related to Hypoproteinemia, Hypercatabolic according to GeneCards Suite gene sharing:

(show all 31)
idCompoundScoreTop Affiliating Genes
1polyether sulfone449.7ALB, B2M
2iopentol449.7B2M, ALB
3p-aminohippuric acid449.7ALB, B2M
451-cr-edta449.7B2M, ALB
5icodextrin44 1110.7ALB, B2M
6inulin449.7B2M, ALB
7iohexol449.7B2M, ALB
8gamma globulin449.7ALB, B2M
9pentosidine449.7B2M, ALB
10sevoflurane50 44 1111.7ALB, B2M
11l-tryptophan50 28 44 24 1113.7ALB, B2M
12polysulfone449.7ALB, B2M
13cellulose acetate449.7ALB, B2M
1425-hydroxyvitamin d449.6B2M, ALB
15phosphorus449.6B2M, ALB
16captopril44 60 50 28 1113.6B2M, ALB
17vitamin b12449.6B2M, ALB
18bicarbonate449.6ALB, B2M
19uric acid44 2410.6B2M, ALB
20zidovudine44 50 1111.6B2M, ALB
21mannitol44 1110.5B2M, ALB
22urea44 24 1111.5B2M, ALB
23thyroxine44 2410.5ALB, B2M
24hyaluronic acid44 2410.4B2M, ALB
25ivig449.4ALB, FCGRT
26folate449.4ALB, B2M
27calcitriol44 60 24 1112.3ALB, B2M
28vitamin d449.3ALB, B2M
29vitamin a44 24 1111.2B2M, ALB
30indomethacin44 28 60 1112.0ALB, B2M
31iron44 249.9FCGRT, B2M, ALB

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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet