MCID: DYS070
MIFTS: 36

Dysalbuminemic Hyperthyroxinemia malady

Genetic diseases (common) category
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Summaries for Dysalbuminemic Hyperthyroxinemia

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MalaCards based summary: 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 azapropazone and sodium octanoate have been mentioned in the context of this disorder. Affiliated tissues include thyroid and testes.

Description from OMIM:46 103600

Aliases & Classifications for Dysalbuminemic Hyperthyroxinemia

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Dysalbuminemic Hyperthyroxinemia, Aliases & Descriptions:

Name: Dysalbuminemic Hyperthyroxinemia 20 46 62


Classifications:

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


Related Diseases for Dysalbuminemic Hyperthyroxinemia

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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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Clinical features from OMIM:

103600

Drugs & Therapeutics for Dysalbuminemic Hyperthyroxinemia

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Drug clinical trials:

Search ClinicalTrials for Dysalbuminemic Hyperthyroxinemia

Search NIH Clinical Center for Dysalbuminemic Hyperthyroxinemia

Genetic Tests for Dysalbuminemic Hyperthyroxinemia

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Genetic tests related to Dysalbuminemic Hyperthyroxinemia:

id Genetic test Affiliating Genes
1 Dysalbuminemic Hyperthyroxinemia20 ALB

Anatomical Context for Dysalbuminemic Hyperthyroxinemia

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MalaCards organs/tissues related to Dysalbuminemic Hyperthyroxinemia:

32
Thyroid, Testes

Animal Models for Dysalbuminemic Hyperthyroxinemia or affiliated genes

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Publications for Dysalbuminemic Hyperthyroxinemia

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Articles related to Dysalbuminemic Hyperthyroxinemia:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. (24494774)
2014
2
A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia. (24646103)
2014
3
Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading. (25153218)
2014
4
Spuriously high free thyroxine values in familial dysalbuminemic hyperthyroxinemia. (21149501)
2011
5
Familial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge. (19282355)
2009
6
Artifactually elevated serum-free thyroxine levels measured by equilibrium dialysis in a pregnant woman with familial dysalbuminemic hyperthyroxinemia. (15068631)
2004
7
Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia. (12743361)
2003
8
Familial dysalbuminemic hyperthyroxinemia: a rare example of albumin polymorphism and its rapid molecular diagnosis. (12099390)
2002
9
Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. (11743520)
2001
10
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
11
Structural investigations of a new familial dysalbuminemic hyperthyroxinemia genotype. (10430791)
1999
12
A point mutation in the albumin gene in a Chinese patient with familial dysalbuminemic hyperthyroxinemia. (10526251)
1999
13
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
14
Inhibition of serum protein binding of thyroxine in a hypothyroid patient with familial dysalbuminemic hyperthyroxinemia. (8929830)
1996
15
Familial dysalbuminemic hyperthyroxinemia and thyroid hormone autoantibodies: interference in current free thyroid hormone assays. (8964572)
1996
16
Familial dysalbuminemic hyperthyroxinemia: cumulative experience in 29 consecutive patients. (15251607)
1995
17
Familial dysalbuminemic hyperthyroxinemia in pregnancy. (8548059)
1995
18
Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. (7829599)
1995
19
Identification of a human serum albumin species associated with familial dysalbuminemic hyperthyroxinemia. (7852505)
1995
20
An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. (8048949)
1994
21
Postpartum thyroiditis and familial dysalbuminemic hyperthyroxinemia. (8288714)
1994
22
The effects of danazol on a patient with familial dysalbuminemic hyperthyroxinemia. (8422721)
1993
23
Free thyroxine measured by the Ciba Corning ACS-180 on samples from patients with familial dysalbuminemic hyperthyroxinemia. (8353971)
1993
24
Fluorescence investigations of albumin from patients with familial dysalbuminemic hyperthyroxinemia. (8475173)
1993
25
Prevalence of familial dysalbuminemic hyperthyroxinemia in serum samples received for thyroid testing. (1868606)
1991
26
Familial dysalbuminemic hyperthyroxinemia associated with multinodular goiter and elevated radioiodine uptake. A case report. (1769174)
1991
27
Elevated thyroxine and free thyroxine in euthyroid patients: familial dysalbuminemic hyperthyroxinemia. (2109350)
1990
28
Can the type of variant albumin in familial dysalbuminemic hyperthyroxinemia be determined by measuring iodothyronines in serum? (2253589)
1990
29
Studies on the nature of iodothyronine binding in familial dysalbuminemic hyperthyroxinemia. (2370303)
1990
30
Diagnosis of familial dysalbuminemic hyperthyroxinemia and investigation of the nature of the variant albumin. (2135643)
1990
31
Familial dysalbuminemic hyperthyroxinemia in a Hispanic family. (3341680)
1988
32
Coexistence of familial dysalbuminemic hyperthyroxinemia with familial hypercholesterolemia and multiple lipoprotein type hyperlipidemia. (3407659)
1988
33
Free thyroxin in familial dysalbuminemic hyperthyroxinemia, as measured by five assays. (3349617)
1988
34
Normal cellular uptake of thyroxine from serum of patients with familial dysalbuminemic hyperthyroxinemia or elevated thyroxine-binding globulin. (3142912)
1988
35
Prevalence of familial dysalbuminemic hyperthyroxinemia in Hispanics. (3662294)
1987
36
A four generation study of familial dysalbuminemic hyperthyroxinemia: diagnosis in the presence of an acquired excess of thyroxine-binding globulin. (3110251)
1987
37
Familial dysalbuminemic hyperthyroxinemia associated with primary thyroid disease. (3812513)
1987
38
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
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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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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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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Compounds related to Dysalbuminemic Hyperthyroxinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 96)
idCompoundScoreTop Affiliating Genes
1azapropazone44 1110.9ALB, OXA1L
2sodium octanoate449.9OXA1L, ALB
3kebuzone449.9ALB, OXA1L
4pirprofen449.9ALB, OXA1L
5rhsa449.8ALB, OXA1L
6tolmetin glucuronide449.8OXA1L, ALB
7dansylsarcosine449.8ALB, OXA1L
8acetyldigitoxin44 1110.8ALB, OXA1L
9hhpa449.8OXA1L, ALB
10dansylamide44 1110.8ALB, OXA1L
11eprex449.8ALB, OXA1L
12oxyphenbutazone44 1110.8OXA1L, ALB
13fenoprofen28 44 1111.8OXA1L, ALB
14sulfisoxazole44 50 61 1112.8ALB, OXA1L
15(s)-ketoprofen449.8ALB, OXA1L
16cyclosarin449.8ALB, OXA1L
17polyvinylpyrrolidone449.8ALB, OXA1L
18n(epsilon)-(carboxymethyl)lysine449.8ALB, OXA1L
19indoxyl sulfate449.8ALB, OXA1L
20polyvinyl alcohol449.8OXA1L, ALB
21tolmetin44 1110.7ALB, OXA1L
22tween 80449.7OXA1L, ALB
23cefoperazone44 1110.7ALB, OXA1L
24aopp449.7OXA1L, ALB
25decanoic acid44 28 1111.7ALB, OXA1L
26octanoate449.7ALB, OXA1L
27suprofen44 1110.7OXA1L, ALB
28phenylbutazone44 1110.6OXA1L, ALB
29idpn449.5TTR, ALB
30hydroxyethyl starch449.5OXA1L, ALB
31enflurane50 44 1111.5ALB, OXA1L
328-anilino-1-naphthalenesulfonic acid449.5OXA1L, TTR
33deae449.4TTR, OXA1L
34furosemide44 61 28 50 24 1114.2SERPINA7, OXA1L, ALB
35phenytoin44 50 28 1112.2ALB, OXA1L, SERPINA7
36chloroform449.1OXA1L, TTR
37ethacrynic acid44 1110.1OXA1L, ALB
38flurbiprofen44 28 50 1112.1OXA1L, ALB, TTR
39glutaraldehyde449.0TTR, OXA1L, ALB
40liothyronine50 24 1111.0ALB, SERPINA7, TTR
41diclofenac44 28 50 1111.9ALB, SERPINA7, TTR
42pcbs448.9SERPINA7, TTR
43urea44 24 1110.9TTR, SERPINA7, ALB
44vitamin a44 24 1110.7SERPINA7, ALB, TTR
45aspirin44 50 28 2411.7TTR, SERPINA7, OXA1L
46fibrinogen448.6TTR, OXA1L, ALB
47diflunisal44 119.4ALB, OXA1L, TTR, SERPINA7
48salicylic acid44 289.4TTR, OXA1L, SERPINA7, ALB
49sodium dodecylsulfate448.4SERPINA7, OXA1L, ALB, TTR
50thyroxine44 249.4TTR, SERPINA7, OXA1L, ALB

GO Terms for genes affiliated with Dysalbuminemic Hyperthyroxinemia

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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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Sources for Dysalbuminemic Hyperthyroxinemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet