FDAH
MCID: HYP677
MIFTS: 31

Hyperthyroxinemia, Familial Dysalbuminemic (FDAH)

Categories: Genetic diseases

Aliases & Classifications for Hyperthyroxinemia, Familial Dysalbuminemic

MalaCards integrated aliases for Hyperthyroxinemia, Familial Dysalbuminemic:

Name: Hyperthyroxinemia, Familial Dysalbuminemic 57 72 29 6 44
Hyperthyroxinemia, Dysalbuminemic 6 39
Dysalbuminemic Hyperthyroxinemia 57 70
Bisalbuminemia 72 54
Fdah 57 72
Dysalbuminemic Hypertriiodothyroninemia 57
Euthyroid Hyperthyroxinemia 1 57
Fdh 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant


Classifications:



External Ids:

OMIM® 57 615999
MeSH 44 D050010
MedGen 41 C0342185
UMLS 70 C1863119

Summaries for Hyperthyroxinemia, Familial Dysalbuminemic

OMIM® : 57 Familial dysalbuminemic hyperthyroxinemia (FDAH) is an autosomal dominant condition characterized by the presence of a variant serum albumin with preferential affinity for thyroxine (T4) in clinically euthyroid individuals. Individuals have consistently elevated total T4 and elevated or normal free T4 values with normal TSH levels. FDAH is the most commonly inherited euthyroid hyperthyroxinemia in Caucasian populations with an estimated prevalence of 1 in 10,000 individuals. The condition does not cause disease since the concentration of free hormone is normal, but affected individuals may be at risk for unnecessary laboratory testing and possibly even inappropriate treatment (summary by Heufelder et al., 1995 and Kragh-Hansen et al., 2017). (615999) (Updated 20-May-2021)

MalaCards based summary : Hyperthyroxinemia, Familial Dysalbuminemic, also known as hyperthyroxinemia, dysalbuminemic, is related to focal dermal hypoplasia and osteopathia striata with cranial sclerosis. An important gene associated with Hyperthyroxinemia, Familial Dysalbuminemic is ALB (Albumin). Affiliated tissues include kidney, thyroid and pituitary.

UniProtKB/Swiss-Prot : 72 Hyperthyroxinemia, familial dysalbuminemic: A disorder characterized by abnormally elevated levels of total serum thyroxine (T4) in euthyroid patients. It is due to abnormal serum albumin that binds T4 with enhanced affinity.

Wikipedia : 73 Familial dysalbuminemic hyperthyroxinemia is a type of hyperthyroxinemia associated with mutations in... more...

Related Diseases for Hyperthyroxinemia, Familial Dysalbuminemic

Graphical network of the top 20 diseases related to Hyperthyroxinemia, Familial Dysalbuminemic:



Diseases related to Hyperthyroxinemia, Familial Dysalbuminemic

Symptoms & Phenotypes for Hyperthyroxinemia, Familial Dysalbuminemic

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Endocrine Features:
euthyroid

Laboratory Abnormalities:
fdah-t4
increased total l-thyroxine (t4)
normal free t4
normal-slightly increased total triiodothyronine (t3)
normal-slightly increased reverse t3 (rt3)
more

Clinical features from OMIM®:

615999 (Updated 20-May-2021)

Drugs & Therapeutics for Hyperthyroxinemia, Familial Dysalbuminemic

Search Clinical Trials , NIH Clinical Center for Hyperthyroxinemia, Familial Dysalbuminemic

Cochrane evidence based reviews: hyperthyroxinemia, familial dysalbuminemic

Genetic Tests for Hyperthyroxinemia, Familial Dysalbuminemic

Genetic tests related to Hyperthyroxinemia, Familial Dysalbuminemic:

# Genetic test Affiliating Genes
1 Hyperthyroxinemia, Familial Dysalbuminemic 29 ALB

Anatomical Context for Hyperthyroxinemia, Familial Dysalbuminemic

MalaCards organs/tissues related to Hyperthyroxinemia, Familial Dysalbuminemic:

40
Kidney, Thyroid, Pituitary

Publications for Hyperthyroxinemia, Familial Dysalbuminemic

Articles related to Hyperthyroxinemia, Familial Dysalbuminemic:

(show all 35)
# Title Authors PMID Year
1
Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. 6 57
11743520 2001
2
Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect. 57 6
9589637 1998
3
A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. 57 6
9329347 1997
4
An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. 57 6
8048949 1994
5
A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia. 6 57
8064810 1994
6
Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. 57
29676214 2018
7
Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia. 57
12743361 2003
8
Familial dysalbuminemic hyperthyroxinemia: cumulative experience in 29 consecutive patients. 57
15251607 1995
9
Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. 57
7829599 1995
10
Coexistence of familial dysalbuminemic hyperthyroxinemia with familial hypercholesterolemia and multiple lipoprotein type hyperlipidemia. 57
3407659 1988
11
Prevalence of familial dysalbuminemic hyperthyroxinemia in Hispanics. 57
3662294 1987
12
A new type of albumin with predominantly increased binding affinity for 3,3',5-triiodothyronine in a patient with Graves' disease. 57
3584855 1987
13
A four generation study of familial dysalbuminemic hyperthyroxinemia: diagnosis in the presence of an acquired excess of thyroxine-binding globulin. 57
3110251 1987
14
Familial dysalbuminemic hyperthyroxinemia. 57
3111180 1987
15
Familial dysalbuminaemic hyperthyroxinaemia: studies of albumin binding and implications for hormone action. 57
3708869 1986
16
A new and distinctive albumin variant with increased affinities for both triiodothyronines and causing hyperthyroxinaemia. 57
3987070 1985
17
Heterogeneity of thyroxine binding by serum albumins in normal subjects and patients with familial dysalbuminemic hyperthyroxinemia. 57
3919043 1985
18
Effect of chloride on serum thyroxine binding in familial dysalbuminemic hyperthyroxinemia. 57
6693542 1984
19
Hyperthyroxinaemia: abnormal binding of T4 by an inherited albumin variant. 57
6406109 1983
20
Elevated serum free thyroxine by thyroxine analog radioimmunoassays in euthyroid patients with familial dysalbuminemic hyperthyroxinemia. 57
7149495 1982
21
Familial euthyroid thyroxine excess: characterization of abnormal intermediate affinity thyroxine binding to albumin. 57
6806311 1982
22
Familial dysalbuminemic hyperthyroxinemia: a syndrome that can be confused with thyrotoxicosis. 57
6173750 1982
23
A rare familiar case of hereditary bisalbuminemia and diabetic predisposition: a possible predictive link? 54
19577314 2010
24
Comparison of efficacy of commercial one dose and two dose PCV2 vaccines using a mixed PRRSV-PCV2-SIV clinical infection model 2-3-months post vaccination. 61
19100807 2009
25
Detection of hereditary bisalbuminemia in a Greek family by capillary zone electrophoresis. 54
18923658 2008
26
Thermodynamic and structural characterization of the copper(II) complexes of peptides containing both histidyl and aspartyl residues. 61
18273380 2007
27
Bisalbuminemia from a clinical chemist's viewpoint: a case report and review of the recent literature. 54
16855523 2006
28
[Pancreatic peritoneal fistula with bisalbuminemia]. 54
15798534 2005
29
Bisalbuminemia in chronic kidney disease. 54
15480907 2004
30
Structural analysis, fatty acid and thyroxine binding properties of Vancouver and Naskapi variants of human serum albumin. 54
14636873 2003
31
Bisalbuminemia in two Croatian families. 54
11257330 2000
32
Bisalbuminuria in an adult with bisalbuminemia and nephrotic syndrome. 54
10437648 1999
33
Transient bisalbuminemia: separation by isoelectric focusing of human albumin fractions linked to different numbers of benzylpenicilloyl groups. 54
7498126 1995
34
Purification and structural study of two albumin variants in an Irish population. 54
1819460 1991
35
[Serum bisalbuminemias: their clinical value]. 54
1781606 1991

Variations for Hyperthyroxinemia, Familial Dysalbuminemic

ClinVar genetic disease variations for Hyperthyroxinemia, Familial Dysalbuminemic:

6 (show top 50) (show all 57)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALB NM_000477.7(ALB):c.725G>C (p.Arg242Pro) SNV Affects 18238 rs75002628 GRCh37: 4:74277724-74277724
GRCh38: 4:73412007-73412007
2 ALB NM_000477.7(ALB):c.269T>C (p.Leu90Pro) SNV Affects 18239 rs77892378 GRCh37: 4:74272477-74272477
GRCh38: 4:73406760-73406760
3 ALB , LOC111832671 NM_000477.6(ALB):c.-45T>C SNV Uncertain significance 349615 rs375806262 GRCh37: 4:74270000-74270000
GRCh38: 4:73404283-73404283
4 ALB NM_000477.7(ALB):c.725G>A (p.Arg242His) SNV Uncertain significance 18225 rs75002628 GRCh37: 4:74277724-74277724
GRCh38: 4:73412007-73412007
5 ALB NM_000477.7(ALB):c.1647A>G (p.Lys549=) SNV Uncertain significance 349638 rs142299078 GRCh37: 4:74284023-74284023
GRCh38: 4:73418306-73418306
6 ALB NM_000477.7(ALB):c.913A>G (p.Lys305Glu) SNV Uncertain significance 349624 rs377046738 GRCh37: 4:74279206-74279206
GRCh38: 4:73413489-73413489
7 ALB NM_000477.7(ALB):c.*14A>C SNV Uncertain significance 349641 rs746946403 GRCh37: 4:74286029-74286029
GRCh38: 4:73420312-73420312
8 ALB NM_000477.7(ALB):c.1479A>G (p.Val493=) SNV Uncertain significance 349635 rs775238949 GRCh37: 4:74283855-74283855
GRCh38: 4:73418138-73418138
9 ALB NM_000477.7(ALB):c.1150T>C (p.Cys384Arg) SNV Uncertain significance 349627 rs886059620 GRCh37: 4:74280843-74280843
GRCh38: 4:73415126-73415126
10 ALB NM_000477.7(ALB):c.1508A>T (p.Glu503Val) SNV Uncertain significance 349636 rs886059621 GRCh37: 4:74283884-74283884
GRCh38: 4:73418167-73418167
11 ALB NM_000477.7(ALB):c.137+4A>C SNV Uncertain significance 349616 rs886059619 GRCh37: 4:74270894-74270894
GRCh38: 4:73405177-73405177
12 ALB NM_000477.7(ALB):c.1059-11A>G SNV Uncertain significance 349625 rs370277014 GRCh37: 4:74280741-74280741
GRCh38: 4:73415024-73415024
13 ALB NM_000477.7(ALB):c.1429-9G>T SNV Uncertain significance 349631 rs373682659 GRCh37: 4:74283796-74283796
GRCh38: 4:73418079-73418079
14 ALB NM_000477.7(ALB):c.1472C>T (p.Thr491Met) SNV Uncertain significance 349634 rs776185501 GRCh37: 4:74283848-74283848
GRCh38: 4:73418131-73418131
15 ALB NM_000477.7(ALB):c.1433C>G (p.Ser478Cys) SNV Uncertain significance 904736 GRCh37: 4:74283809-74283809
GRCh38: 4:73418092-73418092
16 ALB NM_000477.7(ALB):c.1438G>A (p.Val480Ile) SNV Uncertain significance 904737 GRCh37: 4:74283814-74283814
GRCh38: 4:73418097-73418097
17 ALB NM_000477.7(ALB):c.1552G>A (p.Asp518Asn) SNV Uncertain significance 18219 rs75920790 GRCh37: 4:74283928-74283928
GRCh38: 4:73418211-73418211
18 ALB NM_000477.7(ALB):c.314G>A (p.Arg105His) SNV Uncertain significance 905452 GRCh37: 4:74274354-74274354
GRCh38: 4:73408637-73408637
19 ALB NM_000477.7(ALB):c.648G>A (p.Ser216=) SNV Uncertain significance 905453 GRCh37: 4:74276061-74276061
GRCh38: 4:73410344-73410344
20 ALB NM_000477.7(ALB):c.745A>C (p.Lys249Gln) SNV Uncertain significance 18227 rs79804069 GRCh37: 4:74277744-74277744
GRCh38: 4:73412027-73412027
21 ALB NM_000477.7(ALB):c.1680G>A (p.Lys560=) SNV Uncertain significance 905525 GRCh37: 4:74285251-74285251
GRCh38: 4:73419534-73419534
22 ALB NM_000477.7(ALB):c.1706A>G (p.Lys569Arg) SNV Uncertain significance 905526 GRCh37: 4:74285277-74285277
GRCh38: 4:73419560-73419560
23 ALB NM_000477.7(ALB):c.1731T>A (p.Ala577=) SNV Uncertain significance 905527 GRCh37: 4:74285302-74285302
GRCh38: 4:73419585-73419585
24 ALB NM_000477.7(ALB):c.1760A>G (p.Asp587Gly) SNV Uncertain significance 905528 GRCh37: 4:74285331-74285331
GRCh38: 4:73419614-73419614
25 ALB NM_000477.7(ALB):c.109G>A (p.Asp37Asn) SNV Uncertain significance 904661 GRCh37: 4:74270862-74270862
GRCh38: 4:73405145-73405145
26 ALB NM_000477.7(ALB):c.231T>C (p.Cys77=) SNV Uncertain significance 904662 GRCh37: 4:74272439-74272439
GRCh38: 4:73406722-73406722
27 ALB NM_000477.7(ALB):c.248C>G (p.Ala83Gly) SNV Uncertain significance 904663 GRCh37: 4:74272456-74272456
GRCh38: 4:73406739-73406739
28 ALB NM_000477.7(ALB):c.*209A>G SNV Uncertain significance 906035 GRCh37: 4:74286994-74286994
GRCh38: 4:73421277-73421277
29 ALB NM_000477.7(ALB):c.*270C>G SNV Uncertain significance 906036 GRCh37: 4:74287055-74287055
GRCh38: 4:73421338-73421338
30 ALB NM_000477.7(ALB):c.1164A>G (p.Ala388=) SNV Uncertain significance 906988 GRCh37: 4:74280857-74280857
GRCh38: 4:73415140-73415140
31 ALB NM_000477.7(ALB):c.1166A>T (p.Asp389Val) SNV Uncertain significance 18220 rs78538497 GRCh37: 4:74280859-74280859
GRCh38: 4:73415142-73415142
32 ALB NM_000477.7(ALB):c.1193T>C (p.Phe398Ser) SNV Uncertain significance 906989 GRCh37: 4:74281974-74281974
GRCh38: 4:73416257-73416257
33 ALB NM_000477.7(ALB):c.1194C>T (p.Phe398=) SNV Uncertain significance 906990 GRCh37: 4:74281975-74281975
GRCh38: 4:73416258-73416258
34 ALB NM_000477.5(ALB):c.67C>T (p.Arg23Cys) SNV Uncertain significance 18213 rs80008208 GRCh37: 4:74270111-74270111
GRCh38: 4:73404394-73404394
35 ALB NM_000477.7(ALB):c.843+11G>A SNV Uncertain significance 905967 GRCh37: 4:74277853-74277853
GRCh38: 4:73412136-73412136
36 ALB NM_000477.7(ALB):c.1011G>T (p.Lys337Asn) SNV Uncertain significance 18192 rs72552710 GRCh37: 4:74279304-74279304
GRCh38: 4:73413587-73413587
37 ALB NM_000477.7(ALB):c.531A>T (p.Glu177Asp) SNV Likely benign 349619 rs149432908 GRCh37: 4:74275120-74275120
GRCh38: 4:73409403-73409403
38 LOC111832671 , ALB NM_000477.7(ALB):c.-13C>T SNV Likely benign 904660 GRCh37: 4:74270032-74270032
GRCh38: 4:73404315-73404315
39 ALB NM_000477.7(ALB):c.1446C>T (p.Asn482=) SNV Likely benign 349633 rs59597814 GRCh37: 4:74283822-74283822
GRCh38: 4:73418105-73418105
40 ALB NM_000477.7(ALB):c.*88G>T SNV Likely benign 349642 rs11538204 GRCh37: 4:74286873-74286873
GRCh38: 4:73421156-73421156
41 ALB NM_000477.7(ALB):c.1434C>T (p.Ser478=) SNV Likely benign 349632 rs139400924 GRCh37: 4:74283810-74283810
GRCh38: 4:73418093-73418093
42 ALB NM_000477.7(ALB):c.323A>G (p.Tyr108Cys) SNV Likely benign 349618 rs142714816 GRCh37: 4:74274363-74274363
GRCh38: 4:73408646-73408646
43 ALB NM_000477.7(ALB):c.1073A>G (p.Tyr358Cys) SNV Likely benign 349626 rs537985931 GRCh37: 4:74280766-74280766
GRCh38: 4:73415049-73415049
44 ALB NM_000477.7(ALB):c.1230T>C (p.Asn410=) SNV Benign 349629 rs35683929 GRCh37: 4:74282011-74282011
GRCh38: 4:73416294-73416294
45 ALB NM_000477.7(ALB):c.891T>C (p.Ser297=) SNV Benign 349623 rs56167251 GRCh37: 4:74279184-74279184
GRCh38: 4:73413467-73413467
46 ALB NM_000477.7(ALB):c.1785+7C>T SNV Benign 349640 rs141131597 GRCh37: 4:74285363-74285363
GRCh38: 4:73419646-73419646
47 ALB NM_000477.7(ALB):c.612A>G (p.Pro204=) SNV Benign 349620 rs58639526 GRCh37: 4:74275201-74275201
GRCh38: 4:73409484-73409484
48 ALB NM_000477.7(ALB):c.1608T>C (p.Asp536=) SNV Benign 349637 rs56042353 GRCh37: 4:74283984-74283984
GRCh38: 4:73418267-73418267
49 ALB NM_000477.7(ALB):c.271-8C>T SNV Benign 349617 rs55888080 GRCh37: 4:74274303-74274303
GRCh38: 4:73408586-73408586
50 ALB NM_000477.7(ALB):c.615+14G>T SNV Benign 349621 rs55861135 GRCh37: 4:74275218-74275218
GRCh38: 4:73409501-73409501

UniProtKB/Swiss-Prot genetic disease variations for Hyperthyroxinemia, Familial Dysalbuminemic:

72
# Symbol AA change Variation ID SNP ID
1 ALB p.Arg242His VAR_000514 rs75002628
2 ALB p.Leu90Pro VAR_013011 rs77892378
3 ALB p.Arg242Pro VAR_013013 rs75002628

Expression for Hyperthyroxinemia, Familial Dysalbuminemic

Search GEO for disease gene expression data for Hyperthyroxinemia, Familial Dysalbuminemic.

Pathways for Hyperthyroxinemia, Familial Dysalbuminemic

GO Terms for Hyperthyroxinemia, Familial Dysalbuminemic

Sources for Hyperthyroxinemia, Familial Dysalbuminemic

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