MCID: DYS070
MIFTS: 35

Dysalbuminemic Hyperthyroxinemia malady

Genetic diseases (common) category

Summaries for Dysalbuminemic Hyperthyroxinemia

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48OMIM, 34MalaCards
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MalaCards: Dysalbuminemic Hyperthyroxinemia is related to hyperthyroxinemia and hypothyroidism. An important gene associated with Dysalbuminemic Hyperthyroxinemia is ALB (albumin), and among its related pathways is FOXA2 and FOXA3 transcription factor networks. The compounds kebuzone and pirprofen have been mentioned in the context of this disorder. Affiliated tissues include thyroid and testes.

Description from OMIM:48 103600

Aliases & Classifications for Dysalbuminemic Hyperthyroxinemia

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21GeneTests, 48OMIM, 63UMLS
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Classifications:

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


Aliases & Descriptions:

dysalbuminemic hyperthyroxinemia 21 48 63


Related Diseases for Dysalbuminemic Hyperthyroxinemia

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Dysalbuminemic Hyperthyroxinemia:



Diseases related to dysalbuminemic hyperthyroxinemia

Symptoms for Dysalbuminemic Hyperthyroxinemia

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48OMIM
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Clinical features from OMIM:

103600

Drugs & Therapeutics for Dysalbuminemic Hyperthyroxinemia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Dysalbuminemic Hyperthyroxinemia

Drug clinical trials:

Search ClinicalTrials for Dysalbuminemic Hyperthyroxinemia

Search NIH Clinical Center for Dysalbuminemic Hyperthyroxinemia

Search CenterWatch for Dysalbuminemic Hyperthyroxinemia

Genetic Tests for Dysalbuminemic Hyperthyroxinemia

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21GeneTests
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Genetic tests related to Dysalbuminemic Hyperthyroxinemia:

id Genetic test Affiliating Genes
1 Dysalbuminemic Hyperthyroxinemia21 ALB

Anatomical Context for Dysalbuminemic Hyperthyroxinemia

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34MalaCards
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MalaCards organs/tissues related to Dysalbuminemic Hyperthyroxinemia:

34
Thyroid, Testes

Animal Models for Dysalbuminemic Hyperthyroxinemia or affiliated genes

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Publications for Dysalbuminemic Hyperthyroxinemia

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Sources:
53PubMed
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Articles related to Dysalbuminemic Hyperthyroxinemia:

(show all 50)
idTitleAuthorsYear
1
Spuriously high free thyroxine values in familial dysalbuminemic hyperthyroxinemia. (21149501)
2011
2
Familial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge. (19282355)
2009
3
Artifactually elevated serum-free thyroxine levels measured by equilibrium dialysis in a pregnant woman with familial dysalbuminemic hyperthyroxinemia. (15068631)
2004
4
Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia. (12743361)
2003
5
Familial dysalbuminemic hyperthyroxinemia: a rare example of albumin polymorphism and its rapid molecular diagnosis. (12099390)
2002
6
Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. (11743520)
2001
7
Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine. (10946882)
2000
8
Structural investigations of a new familial dysalbuminemic hyperthyroxinemia genotype. (10430791)
1999
9
A point mutation in the albumin gene in a Chinese patient with familial dysalbuminemic hyperthyroxinemia. (10526251)
1999
10
A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. (9329347)
1997
11
Inhibition of serum protein binding of thyroxine in a hypothyroid patient with familial dysalbuminemic hyperthyroxinemia. (8929830)
1996
12
Familial dysalbuminemic hyperthyroxinemia and thyroid hormone autoantibodies: interference in current free thyroid hormone assays. (8964572)
1996
13
Mutations in a specific human serum albumin thyroxine binding site define the structural basis of familial dysalbuminemic hyperthyroxinemia. (8702585)
1996
14
Familial dysalbuminemic hyperthyroxinemia: cumulative experience in 29 consecutive patients. (15251607)
1995
15
Familial dysalbuminemic hyperthyroxinemia in pregnancy. (8548059)
1995
16
Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. (7829599)
1995
17
Identification of a human serum albumin species associated with familial dysalbuminemic hyperthyroxinemia. (7852505)
1995
18
An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. (8048949)
1994
19
Postpartum thyroiditis and familial dysalbuminemic hyperthyroxinemia. (8288714)
1994
20
The effects of danazol on a patient with familial dysalbuminemic hyperthyroxinemia. (8422721)
1993
21
Free thyroxine measured by the Ciba Corning ACS-180 on samples from patients with familial dysalbuminemic hyperthyroxinemia. (8353971)
1993
22
Fluorescence investigations of albumin from patients with familial dysalbuminemic hyperthyroxinemia. (8475173)
1993
23
Prevalence of familial dysalbuminemic hyperthyroxinemia in serum samples received for thyroid testing. (1868606)
1991
24
Familial dysalbuminemic hyperthyroxinemia associated with multinodular goiter and elevated radioiodine uptake. A case report. (1769174)
1991
25
Elevated thyroxine and free thyroxine in euthyroid patients: familial dysalbuminemic hyperthyroxinemia. (2109350)
1990
26
Can the type of variant albumin in familial dysalbuminemic hyperthyroxinemia be determined by measuring iodothyronines in serum? (2253589)
1990
27
Studies on the nature of iodothyronine binding in familial dysalbuminemic hyperthyroxinemia. (2370303)
1990
28
Diagnosis of familial dysalbuminemic hyperthyroxinemia and investigation of the nature of the variant albumin. (2135643)
1990
29
Familial dysalbuminemic hyperthyroxinemia in a Hispanic family. (3341680)
1988
30
Coexistence of familial dysalbuminemic hyperthyroxinemia with familial hypercholesterolemia and multiple lipoprotein type hyperlipidemia. (3407659)
1988
31
Free thyroxin in familial dysalbuminemic hyperthyroxinemia, as measured by five assays. (3349617)
1988
32
Normal cellular uptake of thyroxine from serum of patients with familial dysalbuminemic hyperthyroxinemia or elevated thyroxine-binding globulin. (3142912)
1988
33
Thyroxin binding by human serum albumin after denaturation of the thyroxin-binding globulin in familial dysalbuminemic hyperthyroxinemia. (3129213)
1988
34
Prevalence of familial dysalbuminemic hyperthyroxinemia in Hispanics. (3662294)
1987
35
A four generation study of familial dysalbuminemic hyperthyroxinemia: diagnosis in the presence of an acquired excess of thyroxine-binding globulin. (3110251)
1987
36
Familial dysalbuminemic hyperthyroxinemia associated with primary thyroid disease. (3812513)
1987
37
Role of serum carrier proteins in the peripheral metabolism and tissue distribution of thyroid hormones in familial dysalbuminemic hyperthyroxinemia and congenital elevation of thyroxine-binding globulin. (3112186)
1987
38
Familial dysalbuminemic hyperthyroxinemia. (3111180)
1987
39
Sex hormone-binding protein in hyperthyroxinemic patients: a discriminator for thyroid status in thyroid hormone resistance and familial dysalbuminemic hyperthyroxinemia. (3084540)
1986
40
Modulation of thyroid parameters by exogenous thyroxine in familial dysalbuminemic hyperthyroxinemia. (3081779)
1986
41
Heterogeneity of thyroxine binding by serum albumins in normal subjects and patients with familial dysalbuminemic hyperthyroxinemia. (3919043)
1985
42
Hepatic bioavailability of thyroxine and testosterone in familial dysalbuminemic hyperthyroxinemia. (4031018)
1985
43
Familial dysalbuminemic hyperthyroxinemia (FDH): inadequacy of the "analog" methods for assaying free-T4 levels. (6745298)
1984
44
Effect of chloride on serum thyroxine binding in familial dysalbuminemic hyperthyroxinemia. (6693542)
1984
45
Familial dysalbuminemic hyperthyroxinemia: a study of four probands and the kindred of three. (6428777)
1984
46
Case report: familial dysalbuminemic hyperthyroxinemia--a variant. (6590861)
1984
47
Measurement of free thyroxin in patients with familial dysalbuminemic hyperthyroxinemia. (6705204)
1984
48
Thyroxine distribution and metabolism in familial dysalbuminemic hyperthyroxinemia. (6746864)
1984
49
Familial dysalbuminemic hyperthyroxinemia: a syndrome that can be confused with thyrotoxicosis. (6173750)
1982
50
Elevated serum free thyroxine by thyroxine analog radioimmunoassays in euthyroid patients with familial dysalbuminemic hyperthyroxinemia. (7149495)
1982

Variations for Dysalbuminemic Hyperthyroxinemia

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Expression for genes affiliated with Dysalbuminemic Hyperthyroxinemia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dysalbuminemic Hyperthyroxinemia

Search GEO for disease gene expression data for Dysalbuminemic Hyperthyroxinemia.

Pathways for genes affiliated with Dysalbuminemic Hyperthyroxinemia

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51PathCards, 39NCBI BioSystems Database
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Pathways related to Dysalbuminemic Hyperthyroxinemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ALB, TTR

Compounds for genes affiliated with Dysalbuminemic Hyperthyroxinemia

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Sources:
46Novoseek, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 30IUPHAR, 25HMDB
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Compounds related to Dysalbuminemic Hyperthyroxinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 96)
idCompoundScoreTop Affiliating Genes
1kebuzone469.9OXA1L, ALB
2pirprofen469.9OXA1L, ALB
3sodium octanoate469.9OXA1L, ALB
4azapropazone46 1210.9OXA1L, ALB
5rhsa469.8ALB, OXA1L
6dansylsarcosine469.8ALB, OXA1L
7tolmetin glucuronide469.8ALB, OXA1L
8acetyldigitoxin46 1210.8OXA1L, ALB
9hhpa469.8OXA1L, ALB
10dansylamide46 1210.8ALB, OXA1L
11eprex469.8ALB, OXA1L
12(s)-ketoprofen469.8OXA1L, ALB
13sulfisoxazole46 52 62 1212.8ALB, OXA1L
14oxyphenbutazone46 1210.8ALB, OXA1L
15polyvinylpyrrolidone469.8OXA1L, ALB
16cyclosarin469.8OXA1L, ALB
17fenoprofen30 46 1211.8OXA1L, ALB
18n(epsilon)-(carboxymethyl)lysine469.8ALB, OXA1L
19indoxyl sulfate469.8ALB, OXA1L
20polyvinyl alcohol469.8ALB, OXA1L
21tolmetin46 1210.8OXA1L, ALB
22cefoperazone46 1210.7OXA1L, ALB
23tween 80469.7OXA1L, ALB
24aopp469.7OXA1L, ALB
25decanoic acid46 30 1211.7ALB, OXA1L
26suprofen46 1210.7OXA1L, ALB
27octanoate469.7OXA1L, ALB
28phenylbutazone46 1210.6OXA1L, ALB
29idpn469.5TTR, ALB
30hydroxyethyl starch469.5OXA1L, ALB
31enflurane52 46 1211.5ALB, OXA1L
328-anilino-1-naphthalenesulfonic acid469.4TTR, OXA1L
33deae469.4TTR, OXA1L
34furosemide46 62 30 52 25 1214.2SERPINA7, OXA1L, ALB
35phenytoin46 52 30 1212.2ALB, OXA1L, SERPINA7
36chloroform469.1TTR, OXA1L
37ethacrynic acid46 1210.1ALB, OXA1L
38flurbiprofen46 30 52 1212.1ALB, OXA1L, TTR
39glutaraldehyde469.0ALB, OXA1L, TTR
40liothyronine52 25 1211.0TTR, SERPINA7, ALB
41diclofenac46 30 52 1211.9TTR, SERPINA7, ALB
42pcbs468.9TTR, SERPINA7
43urea46 25 1210.9TTR, SERPINA7, ALB
44vitamin a46 25 1210.7TTR, SERPINA7, ALB
45aspirin46 52 30 2511.7OXA1L, SERPINA7, TTR
46fibrinogen468.6ALB, OXA1L, TTR
47diflunisal46 129.4ALB, OXA1L, SERPINA7, TTR
48salicylic acid46 309.4TTR, SERPINA7, OXA1L, ALB
49sodium dodecylsulfate468.4TTR, SERPINA7, OXA1L, ALB
50thyroxine46 259.4ALB, OXA1L, SERPINA7, TTR

GO Terms for genes affiliated with Dysalbuminemic Hyperthyroxinemia

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17Gene Ontology
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Cellular components related to Dysalbuminemic Hyperthyroxinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432348.5ALB, OXA1L, TTR
2extracellular regionGO:0055768.5ALB, SERPINA7, TTR
3extracellular spaceGO:0056158.2ALB, SERPINA7, TTR

Molecular functions related to Dysalbuminemic Hyperthyroxinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone bindingGO:0425629.0SERPINA7, TTR

Products for genes affiliated with Dysalbuminemic Hyperthyroxinemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dysalbuminemic Hyperthyroxinemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet