MCID: ANL018
MIFTS: 28

Analbuminemia malady

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Analbuminemia

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Aliases & Descriptions for Analbuminemia:

Name: Analbuminemia 49 67 24
 
Analba 67

Characteristics:

HPO:

61
analbuminemia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 616000
MedGen34 C0878666
MeSH36 D034141

Summaries for Analbuminemia

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OMIM:49 Analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating... (616000) more...

MalaCards based summary: Analbuminemia, also known as analba, is related to congenital analbuminemia and thrombocytopenia, and has symptoms including osteoporosis, hypotension and hypoalbuminemia. An important gene associated with Analbuminemia is ALB (Albumin). Affiliated tissues include breast, endothelial and kidney.

UniProtKB/Swiss-Prot:67 Analbuminemia: A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals manifest mild edema, hypotension, fatigue, and, occasionally, lower body lipodystrophy (mainly in adult females). The most common biochemical finding is hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides.

Related Diseases for Analbuminemia

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Graphical network of the top 20 diseases related to Analbuminemia:



Diseases related to analbuminemia

Symptoms for Analbuminemia

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Clinical features from OMIM:

616000

HPO human phenotypes related to Analbuminemia:

(show all 6)
id Description Frequency HPO Source Accession
1 osteoporosis HP:0000939
2 hypotension HP:0002615
3 hypoalbuminemia HP:0003073
4 hyperlipidemia HP:0003077
5 lipodystrophy HP:0009125
6 fatigue HP:0012378

Drugs & Therapeutics for Analbuminemia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Analbuminemia

Genetic Tests for Analbuminemia

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Anatomical Context for Analbuminemia

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MalaCards organs/tissues related to Analbuminemia:

33
Breast, Endothelial, Kidney, T cells, Pancreas, Tongue, Skin

Animal Models for Analbuminemia or affiliated genes

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Publications for Analbuminemia

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Articles related to Analbuminemia:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
A mouse model of skin aging: fragmentation of dermal collagen fibrils and reduced fibroblast spreading due to expression of human matrix metalloproteinase-1. (25724359)
2015
2
SCA6 presenting parkinsonism without ataxia-A case report. (25904253)
2015
3
Prognostic significance of histone methyltransferase enhancer of zeste homolog 2 in patients with cervical squamous cell carcinoma. (26622583)
2015
4
Major histocompatibility complex alleles associated with parasite susceptibility in wild giant pandas. (25248466)
2014
5
KAT6A, a chromatin modifier from the 8p11-p12 amplicon is a candidate oncogene in luminal breast cancer. (25220592)
2014
6
C-type natriuretic peptide transcriptomic profiling increases in human leukocytes of patients with chronic heart failure as a function of clinical severity. (23911666)
2013
7
Tubular network formation by adriamycin-resistant MCF-7 breast cancer cells is closely linked to MMP-9 and VEGFR-2/VEGFR-3 over-expressions. (22542663)
2012
8
Laparoscopic treatment of splenomegaly: a case for hand-assisted laparoscopic surgery. (21768428)
2011
9
The Wnt antagonist Dickkopf-1 increases endothelial progenitor cell angiogenic potential. (20847303)
2010
10
Phaeohyphomycosis of subcutaneous tissue caused by Phaeoacremonium parasiticum. (19172066)
2009
11
Biology and treatment of eosinophilic esophagitis. (19596009)
2009
12
Variable phenotypes associated with mutations in DOK7. (18161030)
2008
13
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features. (18978652)
2008
14
Netrin-1 and kidney injury. II. Netrin-1 is an early biomarker of acute kidney injury. (18234954)
2008
15
Tongue necrosis from temporal arteritis. (17935244)
2007
16
Blindness caused by deficiency in AE3 chloride/bicarbonate exchanger. (17786210)
2007
17
Density value means in the evaluation of external apical root resorption: an in vitro study for early detection in orthodontic case simulations. (17463096)
2007
18
Airway hyperresponsiveness, peak flow variability and inflammatory markers in non-asthmatic subjects with respiratory infections. (20298277)
2007
19
Conformational changes in ammonia-channeling glutamine amidotransferases. (17951049)
2007
20
Thrombotic microangiopathy due to malignant hypertension following corticosteroid therapy for microscopic polyangitis. (17541236)
2007
21
v-Src tyrosine phosphorylation of connexin43: regulation of gap junction communication and effects on cell transformation. (16916748)
2006
22
Regulation of the estrogen-inducible gene expression profile by the breast cancer susceptibility gene BRCA1. (15637295)
2005
23
Carbon tetrachloride-induced lipid peroxidation: eicosanoid formation and their regulation by antioxidant nutrients. (12821287)
2003
24
Importance of Cys, Gln, and Tyr from the transmembrane domain of human alpha 3/4 fucosyltransferase III for its localization and sorting in the Golgi of baby hamster kidney cells. (12493760)
2003
25
Synchronous detection of a pulmonary papillary adenoma and lung metastases in a patient with osteosarcoma in relapse. (11813181)
2002
26
Beyond monoamine-based therapies: clues to new approaches. (15453010)
2002
27
High prevalence of tungiasis in a poor neighbourhood in Fortaleza, Northeast Brazil. (12204399)
2002
28
The prion protein has RNA binding and chaperoning properties characteristic of nucleocapsid protein NCP7 of HIV-1. (11278562)
2001
29
Leukocyte adhesion molecule expression and T cell naA^ve/memory status following isoproterenol infusion. (10636482)
2000
30
Proteolysis of subendothelial adhesive glycoproteins (fibronectin, thrombospondin, and von Willebrand factor) by plasmin, leukocyte cathepsin G, and elastase. (10822079)
2000
31
Intracellular forms of human NOTCH1 interact at distinctly different levels with RBP-jkappa in human B and T cells. (10637481)
2000
32
Santorinicele and recurrent acute pancreatitis in pancreas divisum: diagnosis with dynamic secretin-stimulated magnetic resonance pancreatography and endoscopic treatment. (10922107)
2000
33
Expression of functional CD40 in human hepatocellular carcinoma. (10498643)
1999
34
The mechanism of cancer-mediated conversion of plasminogen to the angiogenesis inhibitor angiostatin. (9380726)
1997
35
Increased proliferation of Leydig cells induced by neonatal hypothyroidism in the rat. (8792213)
1996
36
Interactions of the transcription factor AP-1 with the long terminal repeat of different human immunodeficiency virus type 1 strains in Jurkat, glial, and neuronal cells. (7474072)
1995
37
The effect of mast cell growth factor on peripheral blood granulocyte-macrophage colony-forming cells in methylcellulose in myeloproliferative disorders. (7589339)
1995
38
Long-term urethral catheterization increases risk of chronic pyelonephritis and renal inflammation. (7983294)
1994
39
Apolipoprotein A-I stabilizes phospholipid lamellae and thus prolongs nucleation time in model bile systems: an ultrastructural study. (8431489)
1993
40
Secretion of alpha-amylase in human parotid gland epithelial cell culture. (8097745)
1993
41
Caco-2 cells cultured in serum-free medium as a model for the study of enterocytic differentiation in vitro. (1939345)
1991
42
Expression of a gene encoding a novel potential IGF binding protein in human tissues. (1756408)
1991
43
A case-control study of oral submucous fibrosis with special reference to the etiologic role of areca nut. (2341977)
1990
44
Localization of a human T-cell-specific gene, RANTES (D17S136E), to chromosome 17q11.2-q12. (1691736)
1990
45
Hereditary multiple exostoses: report of a case presenting with proximal nail fold and nail swelling. (2298952)
1990
46
Molecular characterization of colony-stimulating factors and their receptors: human interleukin-3. (2544122)
1989
47
Estimation of complement C3 in oral submucous fibrosis. (3125276)
1987
48
Electroretinographic responses in Lafora disease. (84746)
1978
49
Macula-sparing monocular blackouts. Clinical and pathologic investigations of intermittent choroidal vascular insufficiency in a case of periarteritis nodosa. (4150748)
1974
50
Transient acantholytic dermatosis. Electron microscope study. (5120160)
1971

Variations for Analbuminemia

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Clinvar genetic disease variations for Analbuminemia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ALBNM_000477.5(ALB): c.714-2A> Gsingle nucleotide variantPathogenicrs77335374GRCh37Chr 4, 74277711: 74277711
2ALBNM_000477.5(ALB): c.872dupA (p.Asn291Lysfs)duplicationPathogenicrs77449454GRCh37Chr 4, 74279165: 74279165

Expression for genes affiliated with Analbuminemia

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Search GEO for disease gene expression data for Analbuminemia.

Pathways for genes affiliated with Analbuminemia

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GO Terms for genes affiliated with Analbuminemia

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Sources for Analbuminemia

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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