MCID: FML297
MIFTS: 37

Familial Thyroid Dyshormonogenesis

Categories: Endocrine diseases, Rare diseases, Genetic 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 thyroiditis. 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, 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 32.2 DUOX2 TG TPO
2 thyroiditis 31.0 TG TPO
3 neonatal hypothyroidism 29.6 SLC5A5 TG TPO
4 hypothyroidism 26.3 DUOX2 DUOXA2 IYD SLC5A5 TG TPO
5 congenital hypothyroidism 26.1 DUOX2 DUOXA2 IYD SLC5A5 TG TPO
6 thyroid dyshormonogenesis 1 12.5
7 thyroid dyshormonogenesis 3 12.5
8 thyroid dyshormonogenesis 6 12.4
9 thyroid dyshormonogenesis 4 12.4
10 thyroid dyshormonogenesis 5 12.4
11 thyroid dyshormonogenesis 2a 12.4
12 subacute lymphocytic thyroiditis 10.4 TG TPO
13 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.4 TG TPO
14 endemic goiter 10.4 TG TPO
15 plummer's disease 10.4 TG TPO
16 premature menopause 10.4 TG TPO
17 graves disease 1 10.4 TG TPO
18 hypothyroidism, congenital, nongoitrous, 4 10.4 TG TPO
19 nontoxic goiter 10.3 TG TPO
20 myxedema 10.3 TG TPO
21 toxic diffuse goiter 10.3 TG TPO
22 subacute thyroiditis 10.3 TG TPO
23 pernicious anemia 10.3 TG TPO
24 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.3 TG TPO
25 nodular goiter 10.3 TG TPO
26 autoimmune disease of endocrine system 10.3 TG TPO
27 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3 TG TPO
28 anaplastic thyroid cancer 10.3 TG TPO
29 multinodular goiter 10.3 TG TPO
30 follicular adenoma 10.2 TG TPO
31 hypersensitivity reaction disease 10.2 TG TPO
32 turner syndrome 10.2 TG TPO
33 papillary carcinoma 10.2 TG TPO
34 differentiated thyroid carcinoma 10.1 TG TPO
35 hyperthyroidism 10.0 TG TPO
36 endocrine gland cancer 10.0 SLC5A5 TG
37 hashimoto thyroiditis 10.0 TG TPO
38 alacrima, achalasia, and mental retardation syndrome 9.9
39 thyroid cancer, nonmedullary, 2 9.9 TG TPO
40 celiac disease 1 9.8 TG TPO
41 thyroid cancer 9.6 SLC5A5 TG TPO
42 graves' disease 9.6 TG TPO
43 dyshormonogenic goiter 9.2 DUOX2 DUOXA2 TG
44 thyroid gland disease 8.7 DUOX2 DUOXA2 TG TPO
45 goiter 8.4 DUOXA2 IYD 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

Publications for Familial Thyroid Dyshormonogenesis

Articles related to Familial Thyroid Dyshormonogenesis:

# Title Authors Year
1
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability. ( 27305979 )
2016
2
Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase. ( 26894573 )
2016
3
Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect. ( 25968604 )
2015
4
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
5
Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community. ( 23236987 )
2013
6
Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis. ( 19837936 )
2009
7
New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations. ( 17684392 )
2007
8
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. ( 17468186 )
2007
9
Thyroid dyshormonogenesis. ( 16424561 )
2005
10
The association of thyroid dyshormonogenesis and deafness (Pendred syndrome): experience of the Victorian Neonatal Thyroid Screening Programme. ( 1389454 )
1992

Variations for Familial Thyroid Dyshormonogenesis

ClinVar genetic disease variations for Familial Thyroid Dyshormonogenesis:

6
(show top 50) (show all 226)
# 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.638+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs774274702 GRCh38 Chromosome 8, 132873226: 132873226
4 TG NM_003235.4(TG): c.638+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs774274702 GRCh37 Chromosome 8, 133885471: 133885471
5 TG NM_003235.4(TG): c.1543C> G (p.Gln515Glu) single nucleotide variant Uncertain significance rs180222 GRCh37 Chromosome 8, 133899160: 133899160
6 TG NM_003235.4(TG): c.1543C> G (p.Gln515Glu) single nucleotide variant Uncertain significance rs180222 GRCh38 Chromosome 8, 132886915: 132886915
7 TG NM_003235.4(TG): c.2334T> C (p.Pro778=) single nucleotide variant Likely benign rs2069550 GRCh38 Chromosome 8, 132888141: 132888141
8 TG NM_003235.4(TG): c.2334T> C (p.Pro778=) single nucleotide variant Likely benign rs2069550 GRCh37 Chromosome 8, 133900386: 133900386
9 TG NM_003235.4(TG): c.3935A> G (p.Asp1312Gly) single nucleotide variant Likely benign rs2069556 GRCh38 Chromosome 8, 132908273: 132908273
10 TG NM_003235.4(TG): c.3935A> G (p.Asp1312Gly) single nucleotide variant Likely benign rs2069556 GRCh37 Chromosome 8, 133920518: 133920518
11 TG NM_003235.4(TG): c.4506T> C (p.Ala1502=) single nucleotide variant Likely benign rs853304 GRCh37 Chromosome 8, 133931748: 133931748
12 TG NM_003235.4(TG): c.4506T> C (p.Ala1502=) single nucleotide variant Likely benign rs853304 GRCh38 Chromosome 8, 132919503: 132919503
13 TG NM_003235.4(TG): c.5512G> A (p.Asp1838Asn) single nucleotide variant Likely benign rs2069561 GRCh37 Chromosome 8, 133975283: 133975283
14 TG NM_003235.4(TG): c.5512G> A (p.Asp1838Asn) single nucleotide variant Likely benign rs2069561 GRCh38 Chromosome 8, 132963038: 132963038
15 TG NM_003235.4(TG): c.5921T> C (p.Met1974Thr) single nucleotide variant Likely benign rs56230101 GRCh38 Chromosome 8, 132969515: 132969515
16 TG NM_003235.4(TG): c.5921T> C (p.Met1974Thr) single nucleotide variant Likely benign rs56230101 GRCh37 Chromosome 8, 133981760: 133981760
17 TG NM_003235.4(TG): c.7408C> T (p.Leu2470=) single nucleotide variant Likely benign rs2069568 GRCh38 Chromosome 8, 133096209: 133096209
18 TG NM_003235.4(TG): c.7408C> T (p.Leu2470=) single nucleotide variant Likely benign rs2069568 GRCh37 Chromosome 8, 134108453: 134108453
19 TG NM_003235.4(TG): c.7501T> C (p.Trp2501Arg) single nucleotide variant Benign rs2069569 GRCh38 Chromosome 8, 133096302: 133096302
20 TG NM_003235.4(TG): c.7501T> C (p.Trp2501Arg) single nucleotide variant Benign rs2069569 GRCh37 Chromosome 8, 134108546: 134108546
21 TG NM_003235.4(TG): c.7589G> A (p.Arg2530Gln) single nucleotide variant Benign rs1133076 GRCh37 Chromosome 8, 134125682: 134125682
22 TG NM_003235.4(TG): c.7589G> A (p.Arg2530Gln) single nucleotide variant Benign rs1133076 GRCh38 Chromosome 8, 133113438: 133113438
23 TG NM_003235.4(TG): c.7920C> T (p.Tyr2640=) single nucleotide variant Likely benign rs2294024 GRCh37 Chromosome 8, 134144113: 134144113
24 TG NM_003235.4(TG): c.7920C> T (p.Tyr2640=) single nucleotide variant Likely benign rs2294024 GRCh38 Chromosome 8, 133131869: 133131869
25 TG NM_003235.4(TG): c.66C> T (p.Phe22=) single nucleotide variant Uncertain significance rs143647619 GRCh37 Chromosome 8, 133879311: 133879311
26 TG NM_003235.4(TG): c.66C> T (p.Phe22=) single nucleotide variant Uncertain significance rs143647619 GRCh38 Chromosome 8, 132867066: 132867066
27 TG NM_003235.4(TG): c.1567T> C (p.Ser523Pro) single nucleotide variant Uncertain significance rs116062097 GRCh38 Chromosome 8, 132886939: 132886939
28 TG NM_003235.4(TG): c.1567T> C (p.Ser523Pro) single nucleotide variant Uncertain significance rs116062097 GRCh37 Chromosome 8, 133899184: 133899184
29 TG NM_003235.4(TG): c.1802C> T (p.Thr601Met) single nucleotide variant Uncertain significance rs139516987 GRCh38 Chromosome 8, 132887174: 132887174
30 TG NM_003235.4(TG): c.1802C> T (p.Thr601Met) single nucleotide variant Uncertain significance rs139516987 GRCh37 Chromosome 8, 133899419: 133899419
31 TG NM_003235.4(TG): c.1834C> A (p.Pro612Thr) single nucleotide variant Uncertain significance rs552359043 GRCh38 Chromosome 8, 132887206: 132887206
32 TG NM_003235.4(TG): c.1834C> A (p.Pro612Thr) single nucleotide variant Uncertain significance rs552359043 GRCh37 Chromosome 8, 133899451: 133899451
33 TG NM_003235.4(TG): c.2150G> A (p.Arg717Gln) single nucleotide variant Uncertain significance rs200611812 GRCh38 Chromosome 8, 132887522: 132887522
34 TG NM_003235.4(TG): c.2150G> A (p.Arg717Gln) single nucleotide variant Uncertain significance rs200611812 GRCh37 Chromosome 8, 133899767: 133899767
35 TG NM_003235.4(TG): c.2443G> A (p.Gly815Arg) single nucleotide variant Likely benign rs16904774 GRCh38 Chromosome 8, 132888250: 132888250
36 TG NM_003235.4(TG): c.2443G> A (p.Gly815Arg) single nucleotide variant Likely benign rs16904774 GRCh37 Chromosome 8, 133900495: 133900495
37 TG NM_003235.4(TG): c.2455C> T (p.Leu819Phe) single nucleotide variant Uncertain significance rs886062704 GRCh38 Chromosome 8, 132888262: 132888262
38 TG NM_003235.4(TG): c.2455C> T (p.Leu819Phe) single nucleotide variant Uncertain significance rs886062704 GRCh37 Chromosome 8, 133900507: 133900507
39 TG NM_003235.4(TG): c.2761+11G> T single nucleotide variant Likely benign rs77660463 GRCh38 Chromosome 8, 132888579: 132888579
40 TG NM_003235.4(TG): c.2761+11G> T single nucleotide variant Likely benign rs77660463 GRCh37 Chromosome 8, 133900824: 133900824
41 TG NM_003235.4(TG): c.2980A> G (p.Ile994Val) single nucleotide variant Uncertain significance rs111363334 GRCh38 Chromosome 8, 132893908: 132893908
42 TG NM_003235.4(TG): c.2980A> G (p.Ile994Val) single nucleotide variant Uncertain significance rs111363334 GRCh37 Chromosome 8, 133906153: 133906153
43 TG NM_003235.4(TG): c.3024C> T (p.Arg1008=) single nucleotide variant Uncertain significance rs143929015 GRCh37 Chromosome 8, 133909916: 133909916
44 TG NM_003235.4(TG): c.3024C> T (p.Arg1008=) single nucleotide variant Uncertain significance rs143929015 GRCh38 Chromosome 8, 132897671: 132897671
45 TG NM_003235.4(TG): c.3098C> T (p.Ala1033Val) single nucleotide variant Uncertain significance rs780538772 GRCh37 Chromosome 8, 133909990: 133909990
46 TG NM_003235.4(TG): c.3098C> T (p.Ala1033Val) single nucleotide variant Uncertain significance rs780538772 GRCh38 Chromosome 8, 132897745: 132897745
47 TG NM_003235.4(TG): c.3217+14G> T single nucleotide variant Uncertain significance rs565373165 GRCh37 Chromosome 8, 133910505: 133910505
48 TG NM_003235.4(TG): c.3217+14G> T single nucleotide variant Uncertain significance rs565373165 GRCh38 Chromosome 8, 132898260: 132898260
49 TG NM_003235.4(TG): c.3804C> T (p.Ser1268=) single nucleotide variant Uncertain significance rs61747461 GRCh37 Chromosome 8, 133919102: 133919102
50 TG NM_003235.4(TG): c.3804C> T (p.Ser1268=) single nucleotide variant Uncertain significance rs61747461 GRCh38 Chromosome 8, 132906857: 132906857

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 thyroid gland development GO:0030878 9.4 DUOX2 TG
5 hydrogen peroxide catabolic process GO:0042744 9.37 DUOX2 TPO
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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