MCID: FML297
MIFTS: 47

Familial Thyroid Dyshormonogenesis

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Familial Thyroid Dyshormonogenesis

MalaCards integrated aliases for Familial Thyroid Dyshormonogenesis:

Name: Familial Thyroid Dyshormonogenesis 12 58 6
Thyroid Dyshormonogenesis 58 36 29 6 39
Familial Dyshormonogenetic Goiter 70

Characteristics:

Orphanet epidemiological data:

58
familial thyroid dyshormonogenesis
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe);

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Familial Thyroid Dyshormonogenesis

KEGG : 36 Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism due to genetic defects in the synthesis of thyroid hormones.

MalaCards based summary : Familial Thyroid Dyshormonogenesis, also known as thyroid dyshormonogenesis, is related to thyroid dyshormonogenesis 3 and pendred syndrome. An important gene associated with Familial Thyroid Dyshormonogenesis is DUOX2 (Dual Oxidase 2), and among its related pathways/superpathways are Tyrosine metabolism and Thyroid hormone synthesis. Affiliated tissues include thyroid, cerebellum and breast, and related phenotypes are constipation and hypothyroidism

Disease Ontology : 12 A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis.

Wikipedia : 73 Thyroid dyshormonogenesis is a rare condition due to genetic defects in the synthesis of thyroid... more...

Related Diseases for Familial Thyroid Dyshormonogenesis

Diseases in the Thyroid Dyshormonogenesis 2a family:

Thyroid Dyshormonogenesis 1 Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 4 Thyroid Dyshormonogenesis 5
Thyroid Dyshormonogenesis 6 Familial Thyroid Dyshormonogenesis

Diseases related to Familial Thyroid Dyshormonogenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 thyroid dyshormonogenesis 3 31.8 TG SLA
2 pendred syndrome 31.1 TPO TG SLC5A5 IYD DUOX2
3 congenital hypothyroidism 30.1 TPO TG SLC5A5 IYD DUOXA2 DUOX2
4 permanent congenital hypothyroidism 30.1 TPO DUOX2
5 multinodular goiter 29.7 TPO TG
6 thyroid carcinoma 29.6 TPO TG SLC5A5
7 hypothyroidism 29.3 TPO TG SLC5A5 IYD DUOXA2 DUOX2
8 goiter 28.9 TPO TG SLC5A5 IYD DUOXA2 DUOX2
9 thyroid dyshormonogenesis 1 11.2
10 thyroid dyshormonogenesis 2a 11.2
11 thyroid dyshormonogenesis 4 11.2
12 thyroid dyshormonogenesis 5 11.2
13 thyroid dyshormonogenesis 6 11.2
14 hypothyroidism, congenital, nongoitrous, 2 11.1
15 branchiootic syndrome 1 10.1
16 granulomatous disease, chronic, autosomal recessive, 4 10.1 DUOXA2 DUOX2
17 cardiomyopathy, familial hypertrophic, 2 10.1 DUOXA2 DUOX2
18 transient congenital hypothyroidism 10.1 TPO DUOX2
19 ovarian serous adenofibroma 10.0 TG SLC5A5
20 ovarian serous cystadenofibroma 10.0 TG SLC5A5
21 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0
22 alacrima, achalasia, and mental retardation syndrome 10.0
23 microcephaly 10.0
24 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.0
25 thyroiditis 10.0 TPO TG
26 mechanical strabismus 10.0 TPO TG
27 iodine hypothyroidism 10.0 TPO TG
28 nonencapsulated sclerosing carcinoma 10.0 TPO TG
29 thyroid crisis 10.0 TPO TG
30 toxic diffuse goiter 10.0 TPO TG
31 aspirin allergy 10.0 TPO TG
32 postsurgical hypothyroidism 10.0 TPO TG
33 goiter, multinodular 1, with or without sertoli-leydig cell tumors 9.9 TPO TG
34 subacute lymphocytic thyroiditis 9.9 TPO TG
35 plummer's disease 9.9 TPO TG
36 nontoxic goiter 9.9 TPO TG
37 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9 TPO TG
38 myxedema 9.9 TPO TG
39 dyshormonogenic goiter 9.9 IYD DUOXA2
40 subacute thyroiditis 9.9 TPO TG
41 type 1 diabetes mellitus 20 9.9 TPO TG
42 adrenal cortical hypofunction 9.9 TPO TG
43 pernicious anemia 9.9 TPO TG
44 exophthalmos 9.9 TPO TG
45 adrenal cortex disease 9.9 TPO TG
46 hypoadrenocorticism, familial 9.9 TPO TG
47 chronic urticaria 9.9 TPO TG
48 autoimmune polyendocrine syndrome 9.9 TPO TG
49 differentiated thyroid carcinoma 9.8 TPO TG
50 turner syndrome 9.8 TPO TG

Graphical network of the top 20 diseases related to Familial Thyroid Dyshormonogenesis:



Diseases related to Familial Thyroid Dyshormonogenesis

Symptoms & Phenotypes for Familial Thyroid Dyshormonogenesis

Human phenotypes related to Familial Thyroid Dyshormonogenesis:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
2 hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000821
3 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
4 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
5 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
6 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
7 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
8 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
9 hypersomnia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100786
10 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
11 hypotonia 31 hallmark (90%) HP:0001252
12 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
13 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
14 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
15 goiter 58 31 frequent (33%) Frequent (79-30%) HP:0000853
16 muscular hypotonia 58 Very frequent (99-80%)
17 growth delay 58 Very frequent (99-80%)
18 abnormality of the face 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Familial Thyroid Dyshormonogenesis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.26 DUOX2 DUOXA2 SLC5A5 TPO
2 skeleton MP:0005390 9.02 DUOX2 DUOXA2 SLC5A5 TG TPO

Drugs & Therapeutics for Familial Thyroid Dyshormonogenesis

Search Clinical Trials , NIH Clinical Center for Familial Thyroid Dyshormonogenesis

Genetic Tests for Familial Thyroid Dyshormonogenesis

Genetic tests related to Familial Thyroid Dyshormonogenesis:

# Genetic test Affiliating Genes
1 Thyroid Dyshormonogenesis 29

Anatomical Context for Familial Thyroid Dyshormonogenesis

MalaCards organs/tissues related to Familial Thyroid Dyshormonogenesis:

40
Thyroid, Cerebellum, Breast

Publications for Familial Thyroid Dyshormonogenesis

Articles related to Familial Thyroid Dyshormonogenesis:

(show top 50) (show all 184)
# Title Authors PMID Year
1
Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis. 61 6
30154845 2018
2
The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou. 6 61
27557340 2016
3
Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community. 6 61
23236987 2013
4
Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations. 61 6
23512414 2013
5
Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. 61 6
21900383 2011
6
Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. 61 6
18029453 2008
7
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. 6 61
17468186 2007
8
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene. 6 61
17121535 2006
9
Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene. 6 61
16403815 2006
10
High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect. 6 61
12213873 2002
11
Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. 61 6
11916616 2002
12
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. 6
29590070 2018
13
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism. 6
30240412 2018
14
DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland. 6
28666341 2017
15
Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism. 6
28541007 2017
16
DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. 6
27821020 2017
17
High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China. 6
27498126 2016
18
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort. 6
27373559 2016
19
Against all odds: blended phenotypes of three single-gene defects. 6
26813946 2016
20
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients. 6
27108200 2016
21
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. 6
26990548 2016
22
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty. 6
26742565 2016
23
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. 6
26709262 2016
24
A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family. 6
27617131 2015
25
Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism. 6
26349762 2015
26
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
27
One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism. 6
25241611 2014
28
The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects. 6
24423310 2014
29
Detection of heterozygous c.1708C>T and c.1978C>G thyroid peroxidase (TPO) mutations in Iraqi patients with toxic and nontoxic goiter. 6
24482635 2014
30
High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. 6
25248169 2014
31
A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism. 6
23292166 2013
32
Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene. 6
23457309 2013
33
New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism. 6
23164529 2013
34
Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism. 6
21565790 2011
35
A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism. 6
21128992 2011
36
Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism. 6
20972728 2010
37
New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter. 6
20410234 2010
38
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 6
19339519 2009
39
Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism. 6
18765512 2008
40
Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. 6
18765513 2008
41
Mutations in the iodotyrosine deiodinase gene and hypothyroidism. 6
18434651 2008
42
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. 6
18042646 2008
43
Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity. 6
17244789 2007
44
Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. 6
16720658 2006
45
Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect. 6
16322276 2006
46
A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. 6
16477365 2006
47
Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. 6
16134168 2005
48
High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. 6
16187918 2005
49
A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation. 6
15769978 2005
50
Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism. 6
15745925 2005

Variations for Familial Thyroid Dyshormonogenesis

ClinVar genetic disease variations for Familial Thyroid Dyshormonogenesis:

6 (show top 50) (show all 781)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TG NM_003235.5(TG):c.7021G>A (p.Gly2341Ser) SNV Pathogenic 545609 rs898275076 GRCh37: 8:134034380-134034380
GRCh38: 8:133022135-133022135
2 SLC5A5 NM_000453.3(SLC5A5):c.1060A>C (p.Thr354Pro) SNV Pathogenic 7664 rs121909174 GRCh37: 19:17992770-17992770
GRCh38: 19:17881961-17881961
3 SLC5A5 NM_000453.3(SLC5A5):c.816C>A (p.Cys272Ter) SNV Pathogenic 7665 rs121909175 GRCh37: 19:17988649-17988649
GRCh38: 19:17877840-17877840
4 SLC5A5 NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu) SNV Pathogenic 7666 rs121909176 GRCh37: 19:17988632-17988632
GRCh38: 19:17877823-17877823
5 SLC5A5 NM_000453.3(SLC5A5):c.277G>C (p.Gly93Arg) SNV Pathogenic 7668 rs121909178 GRCh37: 19:17983405-17983405
GRCh38: 19:17872596-17872596
6 SLC5A5 NM_000453.3(SLC5A5):c.1628G>A (p.Gly543Glu) SNV Pathogenic 7669 rs121909179 GRCh37: 19:17999241-17999241
GRCh38: 19:17888432-17888432
7 SLC5A5 SLC5A5, EX3-7DEL Deletion Pathogenic 7671 GRCh37:
GRCh38:
8 TG TG, 138-BP DEL, NT5590 TG, IVS30, +1, G-T Deletion Pathogenic 12692 GRCh37:
GRCh38:
9 TG NM_003235.5(TG):c.3229T>C (p.Cys1077Arg) SNV Pathogenic 12702 rs137854433 GRCh37: 8:133911054-133911054
GRCh38: 8:132898809-132898809
10 TG NM_003235.5(TG):c.7123G>A (p.Gly2375Arg) SNV Pathogenic 12703 rs137854434 GRCh37: 8:134042152-134042152
GRCh38: 8:133029907-133029907
11 TG NM_003235.5(TG):c.5690G>A (p.Cys1897Tyr) SNV Pathogenic 12704 rs121912649 GRCh37: 8:133980042-133980042
GRCh38: 8:132967797-132967797
12 TG NM_003235.5(TG):c.275-3C>G SNV Pathogenic 12689 rs1587166863 GRCh37: 8:133883590-133883590
GRCh38: 8:132871345-132871345
13 TG NM_003235.5(TG):c.1143del (p.Tyr382fs) Deletion Pathogenic 12699 rs778849740 GRCh37: 8:133898760-133898760
GRCh38: 8:132886515-132886515
14 TG NM_003235.5(TG):c.6200-1G>C SNV Pathogenic 12701 rs1587678058 GRCh37: 8:133995594-133995594
GRCh38: 8:132983349-132983349
15 TG NM_003235.5(TG):c.48G>A (p.Trp16Ter) SNV Pathogenic 915466 GRCh37: 8:133879293-133879293
GRCh38: 8:132867048-132867048
16 TPO TPO, 4-BP INS, NT1227 Insertion Pathogenic 4040 GRCh37:
GRCh38:
17 TPO TPO, 20-BP DUP Duplication Pathogenic 4041 GRCh37:
GRCh38:
18 TPO NM_001206744.2(TPO):c.1339A>T (p.Ile447Phe) SNV Pathogenic 4043 rs104893669 GRCh37: 2:1488368-1488368
GRCh38: 2:1484596-1484596
19 TPO NM_001206744.2(TPO):c.1768G>A (p.Gly590Ser) SNV Pathogenic 4045 rs121908084 GRCh37: 2:1491763-1491763
GRCh38: 2:1487991-1487991
20 TPO TPO, 1-BP INS, 2505C Insertion Pathogenic 4047 GRCh37:
GRCh38:
21 TPO NM_001206744.2(TPO):c.1943G>A (p.Arg648Gln) SNV Pathogenic 4048 rs121908086 GRCh37: 2:1497748-1497748
GRCh38: 2:1493976-1493976
22 TPO NM_001206744.2(TPO):c.2077C>T (p.Arg693Trp) SNV Pathogenic 4051 rs121908087 GRCh37: 2:1499831-1499831
GRCh38: 2:1496059-1496059
23 TPO NM_001206744.2(TPO):c.1496del (p.Pro499fs) Deletion Pathogenic 4052 rs1573380429 GRCh37: 2:1488523-1488523
GRCh38: 2:1484751-1484751
24 TPO NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln) SNV Pathogenic 374344 rs140124953 GRCh37: 2:1497799-1497799
GRCh38: 2:1494027-1494027
25 TPO NM_001206744.2(TPO):c.2395G>A (p.Glu799Lys) SNV Pathogenic 4046 rs121908085 GRCh37: 2:1507728-1507728
GRCh38: 2:1503956-1503956
26 TPO NM_001206744.2(TPO):c.2512del (p.Cys838fs) Deletion Pathogenic 4049 rs1573459560 GRCh37: 2:1507845-1507845
GRCh38: 2:1504073-1504073
27 TPO NM_001206744.2(TPO):c.2421del (p.Cys808fs) Deletion Pathogenic 623380 rs760307139 GRCh37: 2:1507748-1507748
GRCh38: 2:1503976-1503976
28 TPO NM_001206744.2(TPO):c.764dup (p.Gly256fs) Duplication Pathogenic 623381 rs1558307375 GRCh37: 2:1459994-1459995
GRCh38: 2:1456222-1456223
29 TG NM_003235.5(TG):c.3733T>C (p.Cys1245Arg) SNV Pathogenic 12693 rs121912647 GRCh37: 8:133919031-133919031
GRCh38: 8:132906786-132906786
30 TG NM_003235.5(TG):c.5986T>A (p.Cys1996Ser) SNV Pathogenic 12694 rs2076739 GRCh37: 8:133984049-133984049
GRCh38: 8:132971804-132971804
31 TG NM_003235.5(TG):c.7007G>A (p.Arg2336Gln) SNV Pathogenic 12705 rs121912650 GRCh37: 8:134034366-134034366
GRCh38: 8:133022121-133022121
32 TG NM_003235.5(TG):c.5184C>A (p.Cys1728Ter) SNV Pathogenic 208619 rs199599591 GRCh37: 8:133953738-133953738
GRCh38: 8:132941493-132941493
33 TG NM_003235.5(TG):c.266dup (p.Val90fs) Duplication Pathogenic 436997 rs1554649344 GRCh37: 8:133882061-133882062
GRCh38: 8:132869816-132869817
34 SLC5A5 NM_000453.3(SLC5A5):c.152del (p.Gly51fs) Deletion Pathogenic 983276 GRCh37: 19:17983276-17983276
GRCh38: 19:17872467-17872467
35 SLC5A5 NM_000453.3(SLC5A5):c.1261G>A (p.Gly421Arg) SNV Pathogenic 983277 GRCh37: 19:17994508-17994508
GRCh38: 19:17883699-17883699
36 DUOXA2 NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter) SNV Pathogenic 444 rs4774518 GRCh37: 15:45409472-45409472
GRCh38: 15:45117274-45117274
37 IYD NM_203395.3(IYD):c.301C>T (p.Arg101Trp) SNV Pathogenic 737 rs121918138 GRCh37: 6:150710610-150710610
GRCh38: 6:150389474-150389474
38 IYD NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu) Deletion Pathogenic 738 rs863223276 GRCh37: 6:150710623-150710625
GRCh38: 6:150389487-150389489
39 IYD NM_203395.3(IYD):c.347T>C (p.Ile116Thr) SNV Pathogenic 739 rs121918139 GRCh37: 6:150710656-150710656
GRCh38: 6:150389520-150389520
40 IYD NM_203395.3(IYD):c.658G>A (p.Ala220Thr) SNV Pathogenic 740 rs121918140 GRCh37: 6:150715362-150715362
GRCh38: 6:150394226-150394226
41 DUOX2 NM_001363711.2(DUOX2):c.2056C>T (p.Gln686Ter) SNV Pathogenic 4063 rs119472027 GRCh37: 15:45398415-45398415
GRCh38: 15:45106217-45106217
42 DUOX2 NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp) SNV Pathogenic 4065 rs119472029 GRCh37: 15:45402093-45402093
GRCh38: 15:45109895-45109895
43 SLC5A5 NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg) SNV Pathogenic 7670 rs121909180 GRCh37: 19:17992969-17992969
GRCh38: 19:17882160-17882160
44 TG NM_003235.5(TG):c.638+1G>A SNV Pathogenic 12706 rs1587178555 GRCh37: 8:133885467-133885467
GRCh38: 8:132873222-132873222
45 DUOXA2 NM_207581.4(DUOXA2):c.413dup (p.Tyr138Ter) Duplication Pathogenic 225344 rs778410503 GRCh37: 15:45408785-45408786
GRCh38: 15:45116587-45116588
46 DUOX2 NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) SNV Pathogenic 225342 rs191759494 GRCh37: 15:45400357-45400357
GRCh38: 15:45108159-45108159
47 DUOX2 NM_001363711.2(DUOX2):c.513+1G>C SNV Pathogenic 638519 rs752635135 GRCh37: 15:45403965-45403965
GRCh38: 15:45111767-45111767
48 DUOXA2 NM_207581.4(DUOXA2):c.414C>G (p.Tyr138Ter) SNV Pathogenic 547935 rs1555415049 GRCh37: 15:45408787-45408787
GRCh38: 15:45116589-45116589
49 DUOXA2 NM_207581.4(DUOXA2):c.501C>A (p.Cys167Ter) SNV Pathogenic 917857 GRCh37: 15:45408874-45408874
GRCh38: 15:45116676-45116676
50 DUOXA2 NM_207581.4(DUOXA2):c.604G>A (p.Ala202Thr) SNV Pathogenic 972709 rs770148072 GRCh37: 15:45409338-45409338
GRCh38: 15:45117140-45117140

Expression for Familial Thyroid Dyshormonogenesis

Search GEO for disease gene expression data for Familial Thyroid Dyshormonogenesis.

Pathways for Familial Thyroid Dyshormonogenesis

Pathways related to Familial Thyroid Dyshormonogenesis according to KEGG:

36
# Name Kegg Source Accession
1 Tyrosine metabolism hsa00350
2 Thyroid hormone synthesis hsa04918

GO Terms for Familial Thyroid Dyshormonogenesis

Cellular components related to Familial Thyroid Dyshormonogenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical part of cell GO:0045177 8.96 DUOXA2 DUOX2
2 cell leading edge GO:0031252 8.62 DUOXA2 DUOX2

Biological processes related to Familial Thyroid Dyshormonogenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular oxidant detoxification GO:0098869 9.5 TPO IYD DUOX2
2 hydrogen peroxide catabolic process GO:0042744 9.43 TPO DUOX2
3 thyroid gland development GO:0030878 9.4 TG DUOX2
4 positive regulation of cell motility GO:2000147 9.37 DUOXA2 DUOX2
5 hormone biosynthetic process GO:0042446 9.33 TPO TG DUOX2
6 iodide transport GO:0015705 9.26 TG SLC5A5
7 thyroid hormone metabolic process GO:0042403 9.13 TG IYD DUOX2
8 thyroid hormone generation GO:0006590 9.02 TPO TG SLC5A5 IYD DUOX2

Molecular functions related to Familial Thyroid Dyshormonogenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxidase activity GO:0004601 8.96 TPO DUOX2
2 iodide peroxidase activity GO:0004447 8.62 TPO IYD

Sources for Familial Thyroid Dyshormonogenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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