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:46 241600

Aliases & Classifications for Hypoproteinemia, Hypercatabolic

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Sources:
46OMIM, 44Novoseek
See all sources

Hypoproteinemia, Hypercatabolic, Aliases & Descriptions:

Name: Hypoproteinemia, Hypercatabolic 46 44


Classifications:

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


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:

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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:

7
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Hypoproteinemia, Hypercatabolic

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/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1polyether sulfone449.7ALB, B2M
2iopentol449.7ALB, B2M
3p-aminohippuric acid449.7ALB, B2M
451-cr-edta449.7ALB, B2M
5icodextrin44 1210.7B2M, ALB
6iohexol449.7ALB, B2M
7inulin449.7ALB, B2M
8gamma globulin449.7ALB, B2M
9pentosidine449.7B2M, ALB
10sevoflurane50 44 1211.7ALB, B2M
11l-tryptophan50 29 44 25 1213.7B2M, ALB
12polysulfone449.7ALB, B2M
13cellulose acetate449.7ALB, B2M
1425-hydroxyvitamin d449.6ALB, B2M
15phosphorus449.6B2M, ALB
16captopril44 60 50 29 1213.6ALB, B2M
17vitamin b12449.6ALB, B2M
18bicarbonate449.6B2M, ALB
19uric acid44 2510.6ALB, B2M
20zidovudine44 50 1211.6ALB, B2M
21mannitol44 1210.5ALB, B2M
22urea44 25 1211.5B2M, ALB
23thyroxine44 2510.5ALB, B2M
24hyaluronic acid44 2510.4ALB, B2M
25ivig449.4ALB, FCGRT
26folate449.4ALB, B2M
27calcitriol44 60 25 1212.3B2M, ALB
28vitamin d449.3ALB, B2M
29vitamin a44 25 1211.2ALB, B2M
30indomethacin44 29 60 1212.0ALB, B2M
31iron44 259.9ALB, FCGRT, B2M

GO Terms for genes affiliated with Hypoproteinemia, Hypercatabolic

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Biological processes related to Hypoproteinemia, Hypercatabolic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1retina homeostasisGO:0018959.3ALB, B2M

Products for genes affiliated with Hypoproteinemia, Hypercatabolic

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Sources for Hypoproteinemia, Hypercatabolic

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet