MCID: FML297
MIFTS: 38

Familial Thyroid Dyshormonogenesis

Categories: Genetic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Familial Thyroid Dyshormonogenesis

MalaCards integrated aliases for Familial Thyroid Dyshormonogenesis:

Name: Familial Thyroid Dyshormonogenesis 55
Thyroid Dyshormonogenesis 55 36 28
Familial Dyshormonogenetic Goiter 69

Characteristics:

Orphanet epidemiological data:

55
familial thyroid dyshormonogenesis
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe);

Classifications:

Orphanet: 55  
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, and has symptoms including macroglossia, large fontanelles and coarse facial features. 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.

Wikipedia : 72 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 46)
# Related Disease Score Top Affiliating Genes
1 pendred syndrome 32.5 DUOX2 TG TPO
2 thyroiditis 30.8 TG TPO
3 congenital hypothyroidism 28.2 DUOX2 IYD SLC5A5 TG TPO
4 hypothyroidism 27.7 DUOX2 DUOXA2 IYD SLC5A5 TG TPO
5 thyroid dyshormonogenesis 3 12.5
6 thyroid dyshormonogenesis 1 12.5
7 thyroid dyshormonogenesis 4 12.4
8 thyroid dyshormonogenesis 5 12.4
9 thyroid dyshormonogenesis 2a 12.4
10 thyroid dyshormonogenesis 6 12.4
11 subacute lymphocytic thyroiditis 10.2 TG TPO
12 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.2 TG TPO
13 endemic goiter 10.2 TG TPO
14 plummer's disease 10.2 TG TPO
15 premature menopause 10.2 TG TPO
16 graves disease 1 10.2 TG TPO
17 hypothyroidism, congenital, nongoitrous, 4 10.2 TG TPO
18 myxedema 10.2 TG TPO
19 nontoxic goiter 10.2 TG TPO
20 subacute thyroiditis 10.2 TG TPO
21 pernicious anemia 10.2 TG TPO
22 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.2 TG TPO
23 toxic diffuse goiter 10.2 TG TPO
24 nodular goiter 10.2 TG TPO
25 autoimmune disease of endocrine system 10.2 TG TPO
26 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2 TG TPO
27 multinodular goiter 10.2 TG TPO
28 follicular adenoma 10.1 TG TPO
29 hypersensitivity reaction disease 10.1 TG TPO
30 papillary carcinoma 10.1 TG TPO
31 turner syndrome 10.1 TG TPO
32 differentiated thyroid carcinoma 10.1 TG TPO
33 hyperthyroidism 10.0 TG TPO
34 endocrine gland cancer 10.0 SLC5A5 TG
35 thyroid cancer, nonmedullary, 2 10.0 TG TPO
36 hashimoto thyroiditis 9.9 TG TPO
37 branchiootic syndrome 1 9.9
38 alacrima, achalasia, and mental retardation syndrome 9.9
39 celiac disease 1 9.9 TG TPO
40 neonatal hypothyroidism 9.9 SLC5A5 TG TPO
41 thyroid cancer, nonmedullary, 1 9.8 SLC5A5 TG TPO
42 thyroid cancer 9.8 SLC5A5 TG TPO
43 graves' disease 9.7 TG TPO
44 dyshormonogenic goiter 9.5 DUOX2 DUOXA2 TG
45 thyroid gland disease 9.2 DUOX2 DUOXA2 TG TPO
46 goiter 8.4 DUOX2 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:

55 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000158
2 large fontanelles 55 31 hallmark (90%) Very frequent (99-80%) HP:0000239
3 coarse facial features 55 31 hallmark (90%) Very frequent (99-80%) HP:0000280
4 hypothyroidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000821
5 goiter 55 31 frequent (33%) Frequent (79-30%) HP:0000853
6 jaundice 55 31 hallmark (90%) Very frequent (99-80%) HP:0000952
7 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
8 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
9 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
10 umbilical hernia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001537
11 constipation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002019
12 abdominal distention 55 31 hallmark (90%) Very frequent (99-80%) HP:0003270
13 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
14 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
15 hypersomnia 55 31 hallmark (90%) Very frequent (99-80%) HP:0100786
16 abnormality of the face 55 Very frequent (99-80%)
17 growth delay 55 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 28

Anatomical Context for Familial Thyroid Dyshormonogenesis

MalaCards organs/tissues related to Familial Thyroid Dyshormonogenesis:

38
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
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
4
Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect. ( 25968604 )
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
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. ( 17468186 )
2007
8
New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations. ( 17684392 )
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
# 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

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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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