MCID: HYP281
MIFTS: 22

Hypoproteinemia, Hypercatabolic malady

Genetic diseases (common) category

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:45 241600

Aliases & Classifications for Hypoproteinemia, Hypercatabolic

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Sources:
45OMIM, 10diseasecard, 43Novoseek
See all sources

Hypoproteinemia, Hypercatabolic, Aliases & Descriptions:

Name: Hypoproteinemia, Hypercatabolic 45 10 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 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:

62
id Symbol AA change Variation ID SNP ID
1B2Mp.Ala11ProVAR_030660

Clinvar genetic disease variations for Hypoproteinemia, Hypercatabolic:

6
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 sulfone439.7ALB, B2M
2iopentol439.7ALB, B2M
3p-aminohippuric acid439.7ALB, B2M
451-cr-edta439.7ALB, B2M
5icodextrin43 1210.7B2M, ALB
6iohexol439.7ALB, B2M
7inulin439.7ALB, B2M
8gamma globulin439.7ALB, B2M
9pentosidine439.7B2M, ALB
10sevoflurane49 43 1211.7ALB, B2M
11l-tryptophan49 28 43 24 1213.7B2M, ALB
12polysulfone439.7ALB, B2M
13cellulose acetate439.7ALB, B2M
1425-hydroxyvitamin d439.6ALB, B2M
15phosphorus439.6B2M, ALB
16captopril43 59 49 28 1213.6ALB, B2M
17vitamin b12439.6ALB, B2M
18bicarbonate439.6B2M, ALB
19uric acid43 2410.6ALB, B2M
20zidovudine43 49 1211.6ALB, B2M
21mannitol43 1210.5ALB, B2M
22urea43 24 1211.5B2M, ALB
23thyroxine43 2410.5ALB, B2M
24hyaluronic acid43 2410.4ALB, B2M
25ivig439.4ALB, FCGRT
26folate439.4ALB, B2M
27calcitriol43 59 24 1212.3B2M, ALB
28vitamin d439.3ALB, B2M
29vitamin a43 24 1211.2ALB, B2M
30indomethacin43 28 59 1212.0ALB, B2M
31iron43 249.9ALB, FCGRT, B2M

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

Products for genes affiliated with Hypoproteinemia, Hypercatabolic

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Sources for Hypoproteinemia, Hypercatabolic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet