MCID: HYP281
MIFTS: 22

Hypoproteinemia, Hypercatabolic malady

Categories: Genetic diseases (common), Immune diseases

Aliases & Classifications for Hypoproteinemia, Hypercatabolic

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Aliases & Descriptions for Hypoproteinemia, Hypercatabolic:

Name: Hypoproteinemia, Hypercatabolic 52 70 12 50 68
Hypercatabolic Hypoproteinemia 70 27
Beta-2-Microglobulin Deficiency 70
Beta-2-Microglobulin 12
 
Immunodeficiency 43 70
B2m Deficiency 70
Imd43 70

Characteristics:

HPO:

64
hypoproteinemia, hypercatabolic:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 241600
MedGen37 C1855796
MeSH39 D007153

Summaries for Hypoproteinemia, Hypercatabolic

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UniProtKB/Swiss-Prot:70 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 amyloidosis beta2m and vesicoureteral reflux, and has symptoms including radial bowing, hypoplasia of the ulna and hypoalbuminemia. An important gene associated with Hypoproteinemia, Hypercatabolic is B2M (Beta-2-Microglobulin). Affiliated tissues include skin.

Description from OMIM:52 241600

Related Diseases for Hypoproteinemia, Hypercatabolic

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Diseases related to Hypoproteinemia, Hypercatabolic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis beta2m10.8
2vesicoureteral reflux10.0ALB, B2M
3glioblastoma multiforme10.0ALB, B2M
4mesangial proliferative glomerulonephritis10.0ALB, B2M
5amyloidosis10.0
6smoldering myeloma10.0ALB, B2M
7chronic progressive external ophthalmoplegia10.0ALB, B2M
8acute liver failure9.9ALB, B2M
9lymphoma9.9
10pancreatic vasoactive intestinal peptide producing tumor9.9ALB, B2M
11chronic apical periodontitis9.9ALB, B2M
12pulpitis9.9ALB, B2M
13breast mucoepidermoid carcinoma9.9ALB, B2M
14taylor's syndrome9.9ALB, B2M
15chronic myelomonocytic leukemia9.8ALB, B2M
16atypical follicular adenoma9.8ALB, B2M
17rheumatoid arthritis9.7
18multiple myeloma9.7
19arthritis9.7
20hepatitis9.7
21prostatitis9.7
22tuberculosis9.7
23central pontine myelinolysis9.7ALB, B2M
24cpt deficiency, hepatic, type ia9.7ALB, B2M
25vipoma9.6ALB, B2M
26prostate cancer9.6
27breast cancer9.6
28acute leukemia9.6
29b-cell lymphomas9.6
30dilated cardiomyopathy9.6
31hematopoietic stem cell transplantation9.6
32leukemia9.6
33peripheral t-cell lymphoma9.6
34persistent generalized lymphadenopathy9.6
35trypanosomiasis9.6
36prostatic hypertrophy9.6
37hepatorenal syndrome9.6
38hepatic coma9.6
39dementia9.6
40eclampsia9.6
41hepatitis c9.6
42ovarian cancer9.6
43amyloid tumor9.6
44hyperthyroidism9.6
45sporadic breast cancer9.6
46aids dementia complex9.6
47cardiomyopathy9.6
48cataract 259.3ALB, B2M, FCGRT
49nasu-hakola disease9.2B2M, FCGRT

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



Diseases related to hypoproteinemia, hypercatabolic

Symptoms & Phenotypes for Hypoproteinemia, Hypercatabolic

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Symptoms by clinical synopsis from OMIM:

241600

Clinical features from OMIM:

241600

Human phenotypes related to Hypoproteinemia, Hypercatabolic:

 64
id Description HPO Frequency HPO Source Accession
1 radial bowing64 HP:0002986
2 hypoplasia of the ulna64 HP:0003022
3 hypoalbuminemia64 HP:0003073
4 hypoproteinemia64 HP:0003075
5 igg deficiency64 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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Genetic tests related to Hypoproteinemia, Hypercatabolic:

id Genetic test Affiliating Genes
1 Hypoproteinemia, Hypercatabolic27

Anatomical Context for Hypoproteinemia, Hypercatabolic

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MalaCards organs/tissues related to Hypoproteinemia, Hypercatabolic:

36
Skin

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:

70
id Symbol AA change Variation ID SNP ID
1B2Mp.Ala11ProVAR_030660rs104894481

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)SNVPathogenicrs104894481GRCh37Chr 15, 45003775: 45003775
2B2MNM_004048.2(B2M): c.67+1G> TSNVPathogenicrs863225287GRCh38Chr 15, 44711614: 44711614

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

Sources for Hypoproteinemia, Hypercatabolic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet