MCID: FML297
MIFTS: 41

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 59
Thyroid Dyshormonogenesis 59 37 29 6
Familial Dyshormonogenetic Goiter 73

Characteristics:

Orphanet epidemiological data:

59
familial thyroid dyshormonogenesis
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe);

Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Familial Thyroid Dyshormonogenesis

MalaCards based summary : Familial Thyroid Dyshormonogenesis, also known as thyroid dyshormonogenesis, is related to pendred syndrome and neonatal hypothyroidism. An important gene associated with Familial Thyroid Dyshormonogenesis is TG (Thyroglobulin), and among its related pathways/superpathways are Tyrosine metabolism and Aldosterone synthesis and secretion. Affiliated tissues include thyroid, testes and t cells, and related phenotypes are hypothyroidism and intellectual disability

Wikipedia : 76 Thyroid dyshormonogenesis (or dyshormogenetic goiter) is a rare condition due to genetic defects in the... 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 all 45)
# Related Disease Score Top Affiliating Genes
1 pendred syndrome 32.9 DUOX2 TG TPO
2 neonatal hypothyroidism 30.0 SLC5A5 TG TPO
3 goiter 29.5 DUOXA2 IYD SLC5A5 TG TPO
4 hypothyroidism 29.4 DUOX2 DUOXA2 IYD SLC5A5 TG TPO
5 congenital hypothyroidism 29.1 DUOX2 DUOXA2 IYD SLC5A5 TG TPO
6 thyroid dyshormonogenesis 1 12.6
7 thyroid dyshormonogenesis 3 12.6
8 thyroid dyshormonogenesis 6 12.6
9 thyroid dyshormonogenesis 4 12.6
10 thyroid dyshormonogenesis 5 12.6
11 thyroid dyshormonogenesis 2a 12.6
12 alacrima, achalasia, and mental retardation syndrome 10.1
13 hypothyroidism, central, and testicular enlargement 10.0 DUOX2 DUOXA2
14 subacute lymphocytic thyroiditis 10.0 TG TPO
15 thyroiditis 10.0 TG TPO
16 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.0 TG TPO
17 endemic goiter 10.0 TG TPO
18 plummer's disease 10.0 TG TPO
19 graves disease 1 10.0 TG TPO
20 premature menopause 10.0 TG TPO
21 nontoxic goiter 10.0 TG TPO
22 pernicious anemia 10.0 TG TPO
23 myxedema 10.0 TG TPO
24 toxic diffuse goiter 10.0 TG TPO
25 subacute thyroiditis 10.0 TG TPO
26 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.0 TG TPO
27 hypothyroidism, congenital, nongoitrous, 4 10.0 TG TPO
28 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9 TG TPO
29 autoimmune disease of endocrine system 9.9 TG TPO
30 multinodular goiter 9.9 TG TPO
31 follicular adenoma 9.9 TG TPO
32 anaplastic thyroid cancer 9.9 TG TPO
33 turner syndrome 9.9 TG TPO
34 papillary carcinoma 9.9 TG TPO
35 immune system disease 9.9 TG TPO
36 differentiated thyroid carcinoma 9.9 TG TPO
37 hyperthyroidism 9.9 TG TPO
38 dyshormonogenic goiter 9.9 DUOX2 DUOXA2 TG
39 hashimoto thyroiditis 9.9 TG TPO
40 thyroid cancer, nonmedullary, 2 9.8 TG TPO
41 celiac disease 1 9.8 TG TPO
42 nodular goiter 9.8 SLC5A5 TG TPO
43 thyroid cancer 9.7 SLC5A5 TG TPO
44 graves' disease 9.7 TG TPO
45 thyroid gland disease 9.6 DUOXA2 SLC5A5 TG TPO

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:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000821
2 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
5 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
6 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
7 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
8 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
9 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
10 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
11 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
12 goiter 59 32 frequent (33%) Frequent (79-30%) HP:0000853
13 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
14 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
15 hypersomnia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100786
16 growth delay 59 Very frequent (99-80%)
17 abnormality of the face 59 Very frequent (99-80%)

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:

41
Thyroid, Testes, T Cells, Breast

Publications for Familial Thyroid Dyshormonogenesis

Articles related to Familial Thyroid Dyshormonogenesis:

(show all 23)
# Title Authors Year
1
Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis. ( 29546359 )
2018
2
Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis. ( 30154845 )
2018
3
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability. ( 27305979 )
2016
4
Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase. ( 26894573 )
2016
5
Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect. ( 25968604 )
2015
6
Prevalence of c.2268dup and detection of two novel alterations, c.670_672del and c.1186C>T, in the TPO gene in a cohort of Malaysian-Chinese with thyroid dyshormonogenesis. ( 25564141 )
2015
7
Molecular Genetic Characterization of Thyroid Dyshormonogenesis in a French Bulldog. ( 26478542 )
2015
8
Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect. ( 26567037 )
2015
9
Thyroid dyshormonogenesis and associated non-thyroidal anomalies in a tertiary care hospital in India. ( 24642829 )
2014
10
Functional analysis of thyroid peroxidase gene mutations detected in patients with thyroid dyshormonogenesis. ( 24829575 )
2014
11
Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community. ( 23236987 )
2013
12
Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. ( 21900383 )
2011
13
Thyroid dyshormonogenesis detected through a modified perchlorate discharge test using a gamma-camera. ( 19430323 )
2009
14
Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis. ( 19837936 )
2009
15
New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations. ( 17684392 )
2007
16
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. ( 17468186 )
2007
17
Thyroid dyshormonogenesis. ( 16424561 )
2005
18
A newborn with a goiter and thyroid dyshormonogenesis. ( 12530620 )
2002
19
Pediatric radiology case of the day. Congenital goiter secondary to inherited thyroid dyshormonogenesis. ( 7785601 )
1995
20
The association of thyroid dyshormonogenesis and deafness (Pendred syndrome): experience of the Victorian Neonatal Thyroid Screening Programme. ( 1389454 )
1992
21
Thyroid dyshormonogenesis: severe hypothyroidism after normal neonatal thyroid stimulating hormone screening. ( 1511207 )
1992
22
Early detection of thyroid dyshormonogenesis in a breast-fed infant using a filter paper screening method. ( 723892 )
1978
23
Stable iodine metabolism in thyroid dyshormonogenesis. ( 14411369 )
1960

Variations for Familial Thyroid Dyshormonogenesis

ClinVar genetic disease variations for Familial Thyroid Dyshormonogenesis:

6 (show top 50) (show all 232)
# Gene Variation Type Significance SNP ID Assembly Location
1 TG NM_003235.4(TG): c.886C> T (p.Arg296Ter) single nucleotide variant Pathogenic rs121912648 GRCh37 Chromosome 8, 133894854: 133894854
2 TG NM_003235.4(TG): c.886C> T (p.Arg296Ter) single nucleotide variant Pathogenic rs121912648 GRCh38 Chromosome 8, 132882609: 132882609
3 TG NM_003235.4(TG): c.5995C> T (p.Arg1999Trp) single nucleotide variant risk factor rs2076740 GRCh37 Chromosome 8, 133984058: 133984058
4 TG NM_003235.4(TG): c.5995C> T (p.Arg1999Trp) single nucleotide variant risk factor rs2076740 GRCh38 Chromosome 8, 132971813: 132971813
5 TG NM_003235.4(TG): c.2200T> G (p.Ser734Ala) single nucleotide variant risk factor rs180223 GRCh37 Chromosome 8, 133900252: 133900252
6 TG NM_003235.4(TG): c.2200T> G (p.Ser734Ala) single nucleotide variant risk factor rs180223 GRCh38 Chromosome 8, 132888007: 132888007
7 TG NM_003235.4(TG): c.3082A> G (p.Met1028Val) single nucleotide variant risk factor rs853326 GRCh37 Chromosome 8, 133909974: 133909974
8 TG NM_003235.4(TG): c.3082A> G (p.Met1028Val) single nucleotide variant risk factor rs853326 GRCh38 Chromosome 8, 132897729: 132897729
9 TG NM_003235.4(TG): c.638+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs774274702 GRCh38 Chromosome 8, 132873226: 132873226
10 TG NM_003235.4(TG): c.638+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs774274702 GRCh37 Chromosome 8, 133885471: 133885471
11 TG NM_003235.4(TG): c.1543C> G (p.Gln515Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs180222 GRCh37 Chromosome 8, 133899160: 133899160
12 TG NM_003235.4(TG): c.1543C> G (p.Gln515Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs180222 GRCh38 Chromosome 8, 132886915: 132886915
13 TG NM_003235.4(TG): c.2334T> C (p.Pro778=) single nucleotide variant Benign/Likely benign rs2069550 GRCh38 Chromosome 8, 132888141: 132888141
14 TG NM_003235.4(TG): c.2334T> C (p.Pro778=) single nucleotide variant Benign/Likely benign rs2069550 GRCh37 Chromosome 8, 133900386: 133900386
15 TG NM_003235.4(TG): c.3935A> G (p.Asp1312Gly) single nucleotide variant Benign/Likely benign rs2069556 GRCh38 Chromosome 8, 132908273: 132908273
16 TG NM_003235.4(TG): c.3935A> G (p.Asp1312Gly) single nucleotide variant Benign/Likely benign rs2069556 GRCh37 Chromosome 8, 133920518: 133920518
17 TG NM_003235.4(TG): c.4506T> C (p.Ala1502=) single nucleotide variant Benign/Likely benign rs853304 GRCh37 Chromosome 8, 133931748: 133931748
18 TG NM_003235.4(TG): c.4506T> C (p.Ala1502=) single nucleotide variant Benign/Likely benign rs853304 GRCh38 Chromosome 8, 132919503: 132919503
19 TG NM_003235.4(TG): c.5512G> A (p.Asp1838Asn) single nucleotide variant Benign/Likely benign rs2069561 GRCh37 Chromosome 8, 133975283: 133975283
20 TG NM_003235.4(TG): c.5512G> A (p.Asp1838Asn) single nucleotide variant Benign/Likely benign rs2069561 GRCh38 Chromosome 8, 132963038: 132963038
21 TG NM_003235.4(TG): c.5921T> C (p.Met1974Thr) single nucleotide variant Benign/Likely benign rs56230101 GRCh38 Chromosome 8, 132969515: 132969515
22 TG NM_003235.4(TG): c.5921T> C (p.Met1974Thr) single nucleotide variant Benign/Likely benign rs56230101 GRCh37 Chromosome 8, 133981760: 133981760
23 TG NM_003235.4(TG): c.7408C> T (p.Leu2470=) single nucleotide variant Benign/Likely benign rs2069568 GRCh38 Chromosome 8, 133096209: 133096209
24 TG NM_003235.4(TG): c.7408C> T (p.Leu2470=) single nucleotide variant Benign/Likely benign rs2069568 GRCh37 Chromosome 8, 134108453: 134108453
25 TG NM_003235.4(TG): c.7501T> C (p.Trp2501Arg) single nucleotide variant Benign rs2069569 GRCh38 Chromosome 8, 133096302: 133096302
26 TG NM_003235.4(TG): c.7501T> C (p.Trp2501Arg) single nucleotide variant Benign rs2069569 GRCh37 Chromosome 8, 134108546: 134108546
27 TG NM_003235.4(TG): c.7589G> A (p.Arg2530Gln) single nucleotide variant Benign rs1133076 GRCh37 Chromosome 8, 134125682: 134125682
28 TG NM_003235.4(TG): c.7589G> A (p.Arg2530Gln) single nucleotide variant Benign rs1133076 GRCh38 Chromosome 8, 133113438: 133113438
29 TG NM_003235.4(TG): c.7920C> T (p.Tyr2640=) single nucleotide variant Benign/Likely benign rs2294024 GRCh37 Chromosome 8, 134144113: 134144113
30 TG NM_003235.4(TG): c.7920C> T (p.Tyr2640=) single nucleotide variant Benign/Likely benign rs2294024 GRCh38 Chromosome 8, 133131869: 133131869
31 TG NM_003235.4(TG): c.66C> T (p.Phe22=) single nucleotide variant Uncertain significance rs143647619 GRCh37 Chromosome 8, 133879311: 133879311
32 TG NM_003235.4(TG): c.66C> T (p.Phe22=) single nucleotide variant Uncertain significance rs143647619 GRCh38 Chromosome 8, 132867066: 132867066
33 TG NM_003235.4(TG): c.1567T> C (p.Ser523Pro) single nucleotide variant Uncertain significance rs116062097 GRCh38 Chromosome 8, 132886939: 132886939
34 TG NM_003235.4(TG): c.1567T> C (p.Ser523Pro) single nucleotide variant Uncertain significance rs116062097 GRCh37 Chromosome 8, 133899184: 133899184
35 TG NM_003235.4(TG): c.1802C> T (p.Thr601Met) single nucleotide variant Uncertain significance rs139516987 GRCh38 Chromosome 8, 132887174: 132887174
36 TG NM_003235.4(TG): c.1802C> T (p.Thr601Met) single nucleotide variant Uncertain significance rs139516987 GRCh37 Chromosome 8, 133899419: 133899419
37 TG NM_003235.4(TG): c.1834C> A (p.Pro612Thr) single nucleotide variant Uncertain significance rs552359043 GRCh38 Chromosome 8, 132887206: 132887206
38 TG NM_003235.4(TG): c.1834C> A (p.Pro612Thr) single nucleotide variant Uncertain significance rs552359043 GRCh37 Chromosome 8, 133899451: 133899451
39 TG NM_003235.4(TG): c.2150G> A (p.Arg717Gln) single nucleotide variant Uncertain significance rs200611812 GRCh38 Chromosome 8, 132887522: 132887522
40 TG NM_003235.4(TG): c.2150G> A (p.Arg717Gln) single nucleotide variant Uncertain significance rs200611812 GRCh37 Chromosome 8, 133899767: 133899767
41 TG NM_003235.4(TG): c.2443G> A (p.Gly815Arg) single nucleotide variant Likely benign rs16904774 GRCh38 Chromosome 8, 132888250: 132888250
42 TG NM_003235.4(TG): c.2443G> A (p.Gly815Arg) single nucleotide variant Likely benign rs16904774 GRCh37 Chromosome 8, 133900495: 133900495
43 TG NM_003235.4(TG): c.2455C> T (p.Leu819Phe) single nucleotide variant Uncertain significance rs886062704 GRCh38 Chromosome 8, 132888262: 132888262
44 TG NM_003235.4(TG): c.2455C> T (p.Leu819Phe) single nucleotide variant Uncertain significance rs886062704 GRCh37 Chromosome 8, 133900507: 133900507
45 TG NM_003235.4(TG): c.2761+11G> T single nucleotide variant Likely benign rs77660463 GRCh38 Chromosome 8, 132888579: 132888579
46 TG NM_003235.4(TG): c.2761+11G> T single nucleotide variant Likely benign rs77660463 GRCh37 Chromosome 8, 133900824: 133900824
47 TG NM_003235.4(TG): c.2980A> G (p.Ile994Val) single nucleotide variant Uncertain significance rs111363334 GRCh38 Chromosome 8, 132893908: 132893908
48 TG NM_003235.4(TG): c.2980A> G (p.Ile994Val) single nucleotide variant Uncertain significance rs111363334 GRCh37 Chromosome 8, 133906153: 133906153
49 TG NM_003235.4(TG): c.3024C> T (p.Arg1008=) single nucleotide variant Uncertain significance rs143929015 GRCh37 Chromosome 8, 133909916: 133909916
50 TG NM_003235.4(TG): c.3024C> T (p.Arg1008=) single nucleotide variant Uncertain significance rs143929015 GRCh38 Chromosome 8, 132897671: 132897671

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:

37
# Name Kegg Source Accession
1 Tyrosine metabolism hsa00350

GO Terms for Familial Thyroid Dyshormonogenesis

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.63 DUOX2 IYD TPO
2 cellular oxidant detoxification GO:0098869 9.5 DUOX2 IYD TPO
3 response to oxidative stress GO:0006979 9.43 DUOX2 TPO
4 hydrogen peroxide catabolic process GO:0042744 9.4 DUOX2 TPO
5 thyroid gland development GO:0030878 9.37 DUOX2 TG
6 hormone biosynthetic process GO:0042446 9.33 DUOX2 TG TPO
7 iodide transport GO:0015705 9.26 SLC5A5 TG
8 thyroid hormone metabolic process GO:0042403 9.13 DUOX2 IYD TG
9 thyroid hormone generation GO:0006590 8.92 DUOX2 IYD SLC5A5 TPO

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.33 DUOX2 IYD TPO
2 heme binding GO:0020037 9.26 DUOX2 TPO
3 peroxidase activity GO:0004601 8.96 DUOX2 TPO
4 iodide peroxidase activity GO:0004447 8.62 IYD TPO

Sources for Familial Thyroid Dyshormonogenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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