Hyperthyroxinemia, Familial Dysalbuminemic disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

FDAH MCID: HYP677 MIFTS: 25	Hyperthyroxinemia, Familial Dysalbuminemic (FDAH) Categories: Genetic diseases
Genes Variations Tissues Related diseases Publications Expand all tables

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Aliases & Classifications for Hyperthyroxinemia, Familial Dysalbuminemic

MalaCards integrated aliases for Hyperthyroxinemia, Familial Dysalbuminemic:

Name: Hyperthyroxinemia, Familial Dysalbuminemic ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁴⁵

Hyperthyroxinemia, Dysalbuminemic ⁶ ⁴¹

Dysalbuminemic Hyperthyroxinemia ⁵⁸ ⁷⁴

Bisalbuminemia ⁷⁶ ⁵⁶

Fdah ⁵⁸ ⁷⁶

Euthyroid Hyperthyroxinemia 1 ⁵⁸

Fdh ⁵⁸

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 615999

MeSH ⁴⁵ D050010

MedGen ⁴³ C0342185

UMLS ⁷⁴ C1863119

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Summaries for Hyperthyroxinemia, Familial Dysalbuminemic

OMIM : ⁵⁸ Familial dysalbuminemic hyperthyroxinemia 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. The condition may be confused with hyperthyroidism or thyroid hormone resistance syndromes, prompting repeated unnecessary laboratory testing and possibly even inappropriate treatment (summary by Heufelder et al., 1995). (615999)

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 thyroid and testes.

UniProtKB/Swiss-Prot : ⁷⁶ 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 : ⁷⁷ Familial dysalbuminemic hyperthyroxinemia is a type of hyperthyroxinemia associated with mutations in... more...

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Related Diseases for Hyperthyroxinemia, Familial Dysalbuminemic

Diseases related to Hyperthyroxinemia, Familial Dysalbuminemic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)

#	Related Disease	Score
1	focal dermal hypoplasia	11.7
2	osteopathia striata with cranial sclerosis	11.2
3	hyperthyroxinemia	10.6
4	hypercholesterolemia, familial	10.3
5	thyroid hormone resistance, generalized, autosomal dominant	10.3
6	congenital hypothyroidism	10.3
7	multinodular goiter	10.3
8	goiter	10.3
9	hypothyroidism	10.3
10	thyroiditis	10.3
11	neonatal hypothyroidism	10.3
12	nephrotic syndrome	10.2
13	allergic hypersensitivity disease	10.1
14	aspergillosis	10.0
15	chronic kidney failure	10.0
16	endocarditis	10.0
17	allergic bronchopulmonary aspergillosis	10.0
18	kidney disease	10.0
19	growth hormone deficiency	10.0

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

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Symptoms & Phenotypes for Hyperthyroxinemia, Familial Dysalbuminemic

Clinical features from OMIM:

615999

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Drugs & Therapeutics for Hyperthyroxinemia, Familial Dysalbuminemic

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

Cochrane evidence based reviews: hyperthyroxinemia, familial dysalbuminemic

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Genetic Tests for Hyperthyroxinemia, Familial Dysalbuminemic

Genetic tests related to Hyperthyroxinemia, Familial Dysalbuminemic:

#	Genetic test	Affiliating Genes
1	Hyperthyroxinemia, Familial Dysalbuminemic ³⁰	ALB

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Anatomical Context for Hyperthyroxinemia, Familial Dysalbuminemic

MalaCards organs/tissues related to Hyperthyroxinemia, Familial Dysalbuminemic:

⁴²

Thyroid, Testes

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Publications for Hyperthyroxinemia, Familial Dysalbuminemic

Articles related to Hyperthyroxinemia, Familial Dysalbuminemic:

(show top 50) (show all 60)

#	Title	Authors	Year
1	Clinical, Genetic, and Protein Structural Aspects of Familial Dysalbuminemic Hyperthyroxinemia and Hypertriiodothyroninemia. ( 29163366 )	Kragh-Hansen U....Minchiotti L.	2017
2	Familial Dysalbuminemic Hyperthyroxinemia that was Inappropriately Treated with Thiamazole Due to Pseudo-thyrotoxic Symptoms. ( 28781323 )	Fukaishi T....Hara Y.	2017
3	First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant. ( 27834068 )	Cho Y.Y....Kim S.W.	2017
4	SEVEN FAMILIAL DYSALBUMINEMIC HYPERTHYROXINEMIA CASES IN THREE UNRELATED JAPANESE FAMILIES AND HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY ANALYSIS OF THE THYROXINE BINDING PROFILE. ( 28816534 )	Nagano H....Tanaka T.	2017
5	Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P). ( 27081329 )	Osaki Y....Fukazawa H.	2016
6	Mutants and molecular dockings reveal that the primary L-thyroxine binding site in human serum albumin is not the one which can cause familial dysalbuminemic hyperthyroxinemia. ( 26777880 )	Kragh-Hansen U....Otagiri M.	2016
7	A case of familial dysalbuminemic hyperthyroxinemia (FDH) in Japan: FDH as a possible differential diagnosis of syndrome of inappropriate secretion of thyroid-stimulating hormone (SITSH). ( 27904073 )	Kobayashi S....Ito K.	2016
8	A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia. ( 24646103 )	Schoenmakers N....Chatterjee K.	2014
9	A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. ( 24494774 )	Greenberg S.M....Refetoff S.	2014
10	Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading. ( 25153218 )	Choudhary A....Antal Z.	2014
11	Spuriously high free thyroxine values in familial dysalbuminemic hyperthyroxinemia. ( 21149501 )	Ross H.A....Sweep F.C.	2011
12	Familial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge. ( 19282355 )	Cartwright D....Halsall D.J.	2009
13	Artifactually elevated serum-free thyroxine levels measured by equilibrium dialysis in a pregnant woman with familial dysalbuminemic hyperthyroxinemia. ( 15068631 )	Hoshikawa S....Yoshida K.	2004
14	Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia. ( 12743361 )	Petitpas I....Curry S.	2003
15	Familial dysalbuminemic hyperthyroxinemia: a rare example of albumin polymorphism and its rapid molecular diagnosis. ( 12099390 )	AvRuskin T.W....Weiss R.E.	2002
16	Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. ( 11743520 )	Pohlenz J....Refetoff S.	2001
17	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 )	Pannain S....Refetoff S.	2000
18	Structural investigations of a new familial dysalbuminemic hyperthyroxinemia genotype. ( 10430791 )	Petersen C.E....Bhagavan N.V.	1999
19	A point mutation in the albumin gene in a Chinese patient with familial dysalbuminemic hyperthyroxinemia. ( 10526251 )	Tang K.T....Braverman L.E.	1999
20	A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. ( 9329347 )	Wada N....Koike T.	1997
21	Familial dysalbuminemic hyperthyroxinemia and thyroid hormone autoantibodies: interference in current free thyroid hormone assays. ( 8964572 )	Sapin R....Schlienger J.L.	1996
22	Inhibition of serum protein binding of thyroxine in a hypothyroid patient with familial dysalbuminemic hyperthyroxinemia. ( 8929830 )	Premachandra B.N....Williams I.K.	1996
23	Mutations in a specific human serum albumin thyroxine binding site define the structural basis of familial dysalbuminemic hyperthyroxinemia. ( 8702585 )	Petersen C.E....Bhagavan N.V.	1996
24	Identification of a human serum albumin species associated with familial dysalbuminemic hyperthyroxinemia. ( 7852505 )	Rushbrook J.I....Divino C.M.	1995
25	Familial dysalbuminemic hyperthyroxinemia: cumulative experience in 29 consecutive patients. ( 15251607 )	Heufelder A.E....Gharib H.	1995
26	Familial dysalbuminemic hyperthyroxinemia in pregnancy. ( 8548059 )	Sachmechi I....Schussler G.C.	1995
27	Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. ( 7829599 )	Weiss R.E....Refetoff S.	1995
28	Postpartum thyroiditis and familial dysalbuminemic hyperthyroxinemia. ( 8288714 )	Langsteger W....Eber O.	1994
29	An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. ( 8048949 )	Sunthornthepvarakul T....Retetoff S.	1994
30	Fluorescence investigations of albumin from patients with familial dysalbuminemic hyperthyroxinemia. ( 8475173 )	Dughi C....Jameson D.M.	1993
31	The effects of danazol on a patient with familial dysalbuminemic hyperthyroxinemia. ( 8422721 )	Katz N....Heironimus J.D.	1993
32	Free thyroxine measured by the Ciba Corning ACS-180 on samples from patients with familial dysalbuminemic hyperthyroxinemia. ( 8353971 )	Tokmakjian S....Edmonds M.	1993
33	Prevalence of familial dysalbuminemic hyperthyroxinemia in serum samples received for thyroid testing. ( 1868606 )	Arevalo G.	1991
34	Familial dysalbuminemic hyperthyroxinemia associated with multinodular goiter and elevated radioiodine uptake. A case report. ( 1769174 )	Toney M.O....Heironimus J.D.	1991
35	Elevated thyroxine and free thyroxine in euthyroid patients: familial dysalbuminemic hyperthyroxinemia. ( 2109350 )	Haas S.	1990
36	Can the type of variant albumin in familial dysalbuminemic hyperthyroxinemia be determined by measuring iodothyronines in serum? ( 2253589 )	Takamatsu J....Ohsawa N.	1990
37	Studies on the nature of iodothyronine binding in familial dysalbuminemic hyperthyroxinemia. ( 2370303 )	Divino C.M....Schussler G.C.	1990
38	Diagnosis of familial dysalbuminemic hyperthyroxinemia and investigation of the nature of the variant albumin. ( 2135643 )	Takamatsu J....Ohsawa N.	1990
39	Familial dysalbuminemic hyperthyroxinemia in a Hispanic family. ( 3341680 )	Kunitake J.M....Nelson J.C.	1988
40	Normal cellular uptake of thyroxine from serum of patients with familial dysalbuminemic hyperthyroxinemia or elevated thyroxine-binding globulin. ( 3142912 )	Sarne D.H....Refetoff S.	1988
41	Coexistence of familial dysalbuminemic hyperthyroxinemia with familial hypercholesterolemia and multiple lipoprotein type hyperlipidemia. ( 3407659 )	Premachandra B.N....Williams I.K.	1988
42	Free thyroxin in familial dysalbuminemic hyperthyroxinemia, as measured by five assays. ( 3349617 )	Sapin R....Schlienger J.L.	1988
43	Thyroxin binding by human serum albumin after denaturation of the thyroxin-binding globulin in familial dysalbuminemic hyperthyroxinemia. ( 3129213 )	Arevalo G.	1988
44	A four generation study of familial dysalbuminemic hyperthyroxinemia: diagnosis in the presence of an acquired excess of thyroxine-binding globulin. ( 3110251 )	Yeo P.P....Ingbar S.H.	1987
45	Prevalence of familial dysalbuminemic hyperthyroxinemia in Hispanics. ( 3662294 )	DeCosimo D.R....Braverman L.E.	1987
46	Familial dysalbuminemic hyperthyroxinemia. ( 3111180 )	Jensen I.W....Faber J.	1987
47	Familial dysalbuminemic hyperthyroxinemia associated with primary thyroid disease. ( 3812513 )	Young R.A....Braverman L.E.	1987
48	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 )	Bianchi R....Giraudi G.	1987
49	Sex hormone-binding protein in hyperthyroxinemic patients: a discriminator for thyroid status in thyroid hormone resistance and familial dysalbuminemic hyperthyroxinemia. ( 3084540 )	De Nayer P....Beckers C.	1986
50	Modulation of thyroid parameters by exogenous thyroxine in familial dysalbuminemic hyperthyroxinemia. ( 3081779 )	Premachandra B.N....Williams I.K.	1986

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Genes for Hyperthyroxinemia, Familial Dysalbuminemic

Genes related to Hyperthyroxinemia, Familial Dysalbuminemic (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ALB	Albumin	Protein Coding	986.81	Molecular basis known ⁵⁸ Causative variation ⁷⁶ Genetic Tests ³⁰ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁸ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	15480907 18923658 1819460 (more) 11257330 1781606 10437648 19577314 7498126 15798534 16855523 14636873

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Variations for Hyperthyroxinemia, Familial Dysalbuminemic

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

⁷⁶

#	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

ClinVar genetic disease variations for Hyperthyroxinemia, Familial Dysalbuminemic:

⁶ (show top 50) (show all 62)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ALB	NM_000477.6(ALB): c.725G> A (p.Arg242His)	single nucleotide variant	Uncertain significance	rs75002628	GRCh37	Chromosome 4, 74277724: 74277724
2	ALB	NM_000477.6(ALB): c.725G> A (p.Arg242His)	single nucleotide variant	Uncertain significance	rs75002628	GRCh38	Chromosome 4, 73412007: 73412007
3	ALB	NM_000477.6(ALB): c.725G> C (p.Arg242Pro)	single nucleotide variant	Affects	rs75002628	GRCh37	Chromosome 4, 74277724: 74277724
4	ALB	NM_000477.6(ALB): c.725G> C (p.Arg242Pro)	single nucleotide variant	Affects	rs75002628	GRCh38	Chromosome 4, 73412007: 73412007
5	ALB	NM_000477.6(ALB): c.269T> C (p.Leu90Pro)	single nucleotide variant	Affects	rs77892378	GRCh37	Chromosome 4, 74272477: 74272477
6	ALB	NM_000477.6(ALB): c.269T> C (p.Leu90Pro)	single nucleotide variant	Affects	rs77892378	GRCh38	Chromosome 4, 73406760: 73406760
7	ALB	NM_000477.6(ALB): c.271-8C> T	single nucleotide variant	Likely benign	rs55888080	GRCh38	Chromosome 4, 73408586: 73408586
8	ALB	NM_000477.6(ALB): c.271-8C> T	single nucleotide variant	Likely benign	rs55888080	GRCh37	Chromosome 4, 74274303: 74274303
9	ALB	NM_000477.6(ALB): c.612A> G (p.Pro204=)	single nucleotide variant	Uncertain significance	rs58639526	GRCh38	Chromosome 4, 73409484: 73409484
10	ALB	NM_000477.6(ALB): c.612A> G (p.Pro204=)	single nucleotide variant	Uncertain significance	rs58639526	GRCh37	Chromosome 4, 74275201: 74275201
11	ALB	NM_000477.6(ALB): c.615+14G> T	single nucleotide variant	Likely benign	rs55861135	GRCh38	Chromosome 4, 73409501: 73409501
12	ALB	NM_000477.6(ALB): c.615+14G> T	single nucleotide variant	Likely benign	rs55861135	GRCh37	Chromosome 4, 74275218: 74275218
13	ALB	NM_000477.6(ALB): c.1429-9G> T	single nucleotide variant	Uncertain significance	rs373682659	GRCh38	Chromosome 4, 73418079: 73418079
14	ALB	NM_000477.6(ALB): c.1429-9G> T	single nucleotide variant	Uncertain significance	rs373682659	GRCh37	Chromosome 4, 74283796: 74283796
15	ALB	NM_000477.6(ALB): c.1785+7C> T	single nucleotide variant	Uncertain significance	rs141131597	GRCh38	Chromosome 4, 73419646: 73419646
16	ALB	NM_000477.6(ALB): c.1785+7C> T	single nucleotide variant	Uncertain significance	rs141131597	GRCh37	Chromosome 4, 74285363: 74285363
17	ALB	NM_000477.6(ALB): c.*14A> C	single nucleotide variant	Uncertain significance	rs746946403	GRCh38	Chromosome 4, 73420312: 73420312
18	ALB	NM_000477.6(ALB): c.*14A> C	single nucleotide variant	Uncertain significance	rs746946403	GRCh37	Chromosome 4, 74286029: 74286029
19	ALB	NM_000477.6(ALB): c.-45T> C	single nucleotide variant	Uncertain significance	rs375806262	GRCh38	Chromosome 4, 73404283: 73404283
20	ALB	NM_000477.6(ALB): c.-45T> C	single nucleotide variant	Uncertain significance	rs375806262	GRCh37	Chromosome 4, 74270000: 74270000
21	ALB	NM_000477.6(ALB): c.137+4A> C	single nucleotide variant	Uncertain significance	rs886059619	GRCh38	Chromosome 4, 73405177: 73405177
22	ALB	NM_000477.6(ALB): c.137+4A> C	single nucleotide variant	Uncertain significance	rs886059619	GRCh37	Chromosome 4, 74270894: 74270894
23	ALB	NM_000477.6(ALB): c.913A> G (p.Lys305Glu)	single nucleotide variant	Uncertain significance	rs377046738	GRCh38	Chromosome 4, 73413489: 73413489
24	ALB	NM_000477.6(ALB): c.913A> G (p.Lys305Glu)	single nucleotide variant	Uncertain significance	rs377046738	GRCh37	Chromosome 4, 74279206: 74279206
25	ALB	NM_000477.6(ALB): c.1059-11A> G	single nucleotide variant	Uncertain significance	rs370277014	GRCh38	Chromosome 4, 73415024: 73415024
26	ALB	NM_000477.6(ALB): c.1059-11A> G	single nucleotide variant	Uncertain significance	rs370277014	GRCh37	Chromosome 4, 74280741: 74280741
27	ALB	NM_000477.6(ALB): c.1290-6T> C	single nucleotide variant	Uncertain significance	rs57705126	GRCh38	Chromosome 4, 73417525: 73417525
28	ALB	NM_000477.6(ALB): c.1290-6T> C	single nucleotide variant	Uncertain significance	rs57705126	GRCh37	Chromosome 4, 74283242: 74283242
29	ALB	NM_000477.6(ALB): c.1434C> T (p.Ser478=)	single nucleotide variant	Uncertain significance	rs139400924	GRCh38	Chromosome 4, 73418093: 73418093
30	ALB	NM_000477.6(ALB): c.1434C> T (p.Ser478=)	single nucleotide variant	Uncertain significance	rs139400924	GRCh37	Chromosome 4, 74283810: 74283810
31	ALB	NM_000477.6(ALB): c.1472C> T (p.Thr491Met)	single nucleotide variant	Uncertain significance	rs776185501	GRCh38	Chromosome 4, 73418131: 73418131
32	ALB	NM_000477.6(ALB): c.1472C> T (p.Thr491Met)	single nucleotide variant	Uncertain significance	rs776185501	GRCh37	Chromosome 4, 74283848: 74283848
33	ALB	NM_000477.6(ALB): c.1647A> G (p.Lys549=)	single nucleotide variant	Uncertain significance	rs142299078	GRCh38	Chromosome 4, 73418306: 73418306
34	ALB	NM_000477.6(ALB): c.1647A> G (p.Lys549=)	single nucleotide variant	Uncertain significance	rs142299078	GRCh37	Chromosome 4, 74284023: 74284023
35	ALB	NM_000477.6(ALB): c.323A> G (p.Tyr108Cys)	single nucleotide variant	Uncertain significance	rs142714816	GRCh38	Chromosome 4, 73408646: 73408646
36	ALB	NM_000477.6(ALB): c.531A> T (p.Glu177Asp)	single nucleotide variant	Uncertain significance	rs149432908	GRCh38	Chromosome 4, 73409403: 73409403
37	ALB	NM_000477.6(ALB): c.531A> T (p.Glu177Asp)	single nucleotide variant	Uncertain significance	rs149432908	GRCh37	Chromosome 4, 74275120: 74275120
38	ALB	NM_000477.6(ALB): c.1446C> T (p.Asn482=)	single nucleotide variant	Uncertain significance	rs59597814	GRCh38	Chromosome 4, 73418105: 73418105
39	ALB	NM_000477.6(ALB): c.1446C> T (p.Asn482=)	single nucleotide variant	Uncertain significance	rs59597814	GRCh37	Chromosome 4, 74283822: 74283822
40	ALB	NM_000477.6(ALB): c.1508A> T (p.Glu503Val)	single nucleotide variant	Uncertain significance	rs886059621	GRCh38	Chromosome 4, 73418167: 73418167
41	ALB	NM_000477.6(ALB): c.1508A> T (p.Glu503Val)	single nucleotide variant	Uncertain significance	rs886059621	GRCh37	Chromosome 4, 74283884: 74283884
42	ALB	NM_000477.6(ALB): c.1608T> C (p.Asp536=)	single nucleotide variant	Uncertain significance	rs56042353	GRCh38	Chromosome 4, 73418267: 73418267
43	ALB	NM_000477.6(ALB): c.1608T> C (p.Asp536=)	single nucleotide variant	Uncertain significance	rs56042353	GRCh37	Chromosome 4, 74283984: 74283984
44	ALB	NM_000477.6(ALB): c.323A> G (p.Tyr108Cys)	single nucleotide variant	Uncertain significance	rs142714816	GRCh37	Chromosome 4, 74274363: 74274363
45	ALB	NM_000477.6(ALB): c.1668C> T (p.Leu556=)	single nucleotide variant	Likely benign	rs962004	GRCh38	Chromosome 4, 73419522: 73419522
46	ALB	NM_000477.6(ALB): c.1668C> T (p.Leu556=)	single nucleotide variant	Likely benign	rs962004	GRCh37	Chromosome 4, 74285239: 74285239
47	ALB	NM_000477.6(ALB): c.616-3T> C	single nucleotide variant	Uncertain significance	rs61375018	GRCh38	Chromosome 4, 73410309: 73410309
48	ALB	NM_000477.6(ALB): c.616-3T> C	single nucleotide variant	Uncertain significance	rs61375018	GRCh37	Chromosome 4, 74276026: 74276026
49	ALB	NM_000477.6(ALB): c.891T> C (p.Ser297=)	single nucleotide variant	Uncertain significance	rs56167251	GRCh38	Chromosome 4, 73413467: 73413467
50	ALB	NM_000477.6(ALB): c.891T> C (p.Ser297=)	single nucleotide variant	Uncertain significance	rs56167251	GRCh37	Chromosome 4, 74279184: 74279184

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Expression for Hyperthyroxinemia, Familial Dysalbuminemic

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

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Pathways for Hyperthyroxinemia, Familial Dysalbuminemic

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GO Terms for Hyperthyroxinemia, Familial Dysalbuminemic

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Hyperthyroxinemia, Familial Dysalbuminemic (FDAH)

Aliases & Classifications for Hyperthyroxinemia, Familial Dysalbuminemic

MalaCards integrated aliases for Hyperthyroxinemia, Familial Dysalbuminemic:

Classifications:

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Summaries for Hyperthyroxinemia, Familial Dysalbuminemic

Related Diseases for Hyperthyroxinemia, Familial Dysalbuminemic

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