IMD43
MCID: HYP281
MIFTS: 23

Hypoproteinemia, Hypercatabolic (IMD43) 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 congenital nystagmus, 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 top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis beta2m10.8
2congenital nystagmus10.1ALB, B2M
3gliosarcoma10.1ALB, B2M
4angiokeratoma10.0ALB, B2M
5venezuelan equine encephalitis10.0ALB, B2M
6malignant hyperthermia susceptibility 110.0ALB, B2M
7idiopathic juvenile osteoporosis10.0ALB, B2M
8hereditary alpha tryptasemia syndrome10.0ALB, B2M
9plummer's disease10.0ALB, B2M
10early yaws10.0ALB, B2M
11henoch-schoenlein purpura10.0ALB, B2M
12acute lymphoblastic leukemia, childhood10.0ALB, B2M
13acute necrotizing encephalitis10.0ALB, B2M
14anterior foramen magnum meningioma10.0ALB, B2M
15uterine ligament serous adenocarcinoma10.0ALB, B2M
16bile duct mucoepidermoid carcinoma10.0ALB, B2M
17sclerosing adenosis of breast10.0ALB, B2M
18biliary cirrhosis, primary, 210.0ALB, B2M
19amyloidosis10.0
20calcinosis10.0ALB, B2M
21chronic myocardial ischemia9.9ALB, B2M
22lymphoma9.9
23heart valve disease9.9ALB, B2M
24lung giant cell carcinoma9.9ALB, B2M
25cutis laxa, autosomal recessive, type ib9.8ALB, B2M
26nasu-hakola disease9.8B2M, FCGRT
27gilles de la tourette syndrome9.7ALB, B2M, FCGRT
28rheumatoid arthritis9.7
29multiple myeloma9.7
30arthritis9.7
31hepatitis9.7
32prostatitis9.7
33tuberculosis9.7
34prostate cancer9.6
35breast cancer9.6
36acute leukemia9.6
37b-cell lymphomas9.6
38dilated cardiomyopathy9.6
39hematopoietic stem cell transplantation9.6
40leukemia9.6
41peripheral t-cell lymphoma9.6
42persistent generalized lymphadenopathy9.6
43trypanosomiasis9.6
44pre-eclampsia9.6
45prostatic hypertrophy9.6
46hepatorenal syndrome9.6
47nephrotic syndrome9.6
48hepatic coma9.6
49dementia9.6
50eclampsia9.6

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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Cellular components related to Hypoproteinemia, Hypercatabolic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:00057889.3ALB, B2M

Biological processes related to Hypoproteinemia, Hypercatabolic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular protein metabolic processGO:00442679.8ALB, B2M
2retina 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