MCID: HYP281
MIFTS: 21

Hypoproteinemia, Hypercatabolic malady

Categories: Genetic diseases (common), Immune diseases

Aliases & Classifications for Hypoproteinemia, Hypercatabolic

About this section

Aliases & Descriptions for Hypoproteinemia, Hypercatabolic:

Name: Hypoproteinemia, Hypercatabolic 49 11 47 67 65
Hypercatabolic Hypoproteinemia 67 24
Beta-2-Microglobulin Deficiency 67
 
Immunodeficiency 43 67
B2m Deficiency 67
Imd43 67

Characteristics:

HPO:

61
hypoproteinemia, hypercatabolic:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 241600
MedGen34 C1855796
MeSH36 D007153
UMLS65 C1855796

Summaries for Hypoproteinemia, Hypercatabolic

About this section
UniProtKB/Swiss-Prot:67 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 sleep apnea and obstructive sleep apnea, and has symptoms including igg deficiency, hypoproteinemia and hypoalbuminemia. An important gene associated with Hypoproteinemia, Hypercatabolic is B2M (Beta-2-Microglobulin). Affiliated tissues include skin.

Description from OMIM:49 241600

Related Diseases for Hypoproteinemia, Hypercatabolic

About this section

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



Diseases related to hypoproteinemia, hypercatabolic

Symptoms for Hypoproteinemia, Hypercatabolic

About this section

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 igg deficiency HP:0004315
2 hypoproteinemia HP:0003075
3 hypoalbuminemia HP:0003073
4 hypoplasia of the ulna HP:0003022
5 radial bowing HP:0002986

Drugs & Therapeutics for Hypoproteinemia, Hypercatabolic

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hypoproteinemia, Hypercatabolic

Genetic Tests for Hypoproteinemia, Hypercatabolic

About this section

Anatomical Context for Hypoproteinemia, Hypercatabolic

About this section

MalaCards organs/tissues related to Hypoproteinemia, Hypercatabolic:

33
Skin

Animal Models for Hypoproteinemia, Hypercatabolic or affiliated genes

About this section

Publications for Hypoproteinemia, Hypercatabolic

About this section

Variations for Hypoproteinemia, Hypercatabolic

About this section

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
2B2MNM_004048.2(B2M): c.67+1G> Tsingle nucleotide variantPathogenicrs863225287GRCh37Chr 15, 45003812: 45003812

Expression for genes affiliated with Hypoproteinemia, Hypercatabolic

About this section
Search GEO for disease gene expression data for Hypoproteinemia, Hypercatabolic.

Pathways for genes affiliated with Hypoproteinemia, Hypercatabolic

About this section

GO Terms for genes affiliated with Hypoproteinemia, Hypercatabolic

About this section

Sources for Hypoproteinemia, Hypercatabolic

About this section
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