MCID: FML297
MIFTS: 33

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 56
Thyroid Dyshormonogenesis 56 29
Familial Dyshormonogenetic Goiter 69

Characteristics:

Orphanet epidemiological data:

56
familial thyroid dyshormonogenesis
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe);

Classifications:

Orphanet: 56  
Rare endocrine diseases


Summaries for Familial Thyroid Dyshormonogenesis

MalaCards based summary : Familial Thyroid Dyshormonogenesis, also known as thyroid dyshormonogenesis, is related to thyroid dyshormonogenesis 3 and thyroid dyshormonogenesis 1, 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 Insulin secretion and Amine-derived hormones. 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 4 Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 5 Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 1 Familial Thyroid Dyshormonogenesis

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

(show top 50) (show all 52)
id Related Disease Score Top Affiliating Genes
1 thyroid dyshormonogenesis 3 12.4
2 thyroid dyshormonogenesis 1 12.3
3 thyroid dyshormonogenesis 2a 12.3
4 thyroid dyshormonogenesis 4 12.3
5 thyroid dyshormonogenesis 5 12.3
6 thyroid dyshormonogenesis 6 12.3
7 pendred syndrome 11.8
8 congenital hypothyroidism, duoxa2-related 11.0
9 maxillary sinus adenoid cystic carcinoma 10.4 TG TPO
10 rhabdomyosarcoma, embryonal, 2 10.4 TG TPO
11 background diabetic retinopathy 10.4 TG TPO
12 tick paralysis 10.4 TG TPO
13 chronic frontal sinusitis 10.4 TG TPO
14 amelogenesis imperfecta, hypomaturation type, iia6 10.4 TG TPO
15 hypothyroidism, congenital, nongoitrous 4 10.4 TG TPO
16 cerebral lipidosis 10.4 TG TPO
17 conjunctival deposit 10.4 TG TPO
18 endemic goiter 10.4 TG TPO
19 thyroiditis 10.3
20 lung occult large cell carcinoma 10.3 TG TPO
21 color blindness 10.3 TG TPO
22 c5 deficiency 10.3 TG TPO
23 nodular prostate 10.3 TG TPO
24 combined cellular and humoral immune defects with granulomas 10.3 TG TPO
25 cd3zeta deficiency 10.3 TG TPO
26 meningovascular neurosyphilis 10.3 TG TPO
27 bladder diffuse clear cell adenocarcinoma 10.3 TG TPO
28 cloacogenic carcinoma 10.3 TG TPO
29 lymphoma 10.2 TG TPO
30 gastrointestinal system cancer 10.2 TG TPO
31 bile duct signet ring cell carcinoma 10.2 TG TPO
32 chorea, hereditary benign 10.2 TG TPO
33 non-distal trisomy 10q 10.2 TG TPO
34 skin meningioma 10.1 TG TPO
35 benign shuddering attacks 10.1 SLC5A5 TG
36 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.1 TG TPO
37 hypothyroidism 10.0
38 diabetes mellitus, insulin-dependent, 12 10.0 TG TPO
39 sarcoidosis 1 10.0 TG TPO
40 pseudohypoparathyroidism 9.9 TG TPO
41 nephrogenic systemic fibrosis 9.9 SLC5A5 TG TPO
42 congenital hypothyroidism 9.8
43 intellectual disability 9.8
44 peritoneal mesothelioma 9.8 SLC5A5 TG TPO
45 pulsating exophthalmos 9.7 TG TPO
46 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 DUOX2 TG TPO
47 echinostomiasis 9.4 DUOX2 DUOXA2 TG
48 fibrolamellar carcinoma 8.9 DUOX2 DUOXA2 TG TPO
49 primary bacterial infectious disease 8.5 DUOX2 IYD SLC5A5 TG TPO
50 adenohypophysitis 7.9 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:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000158
2 large fontanelles 56 32 hallmark (90%) Very frequent (99-80%) HP:0000239
3 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
4 hypothyroidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000821
5 goiter 56 32 frequent (33%) Frequent (79-30%) HP:0000853
6 jaundice 56 32 hallmark (90%) Very frequent (99-80%) HP:0000952
7 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
8 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
9 global developmental delay 56 32 frequent (33%) Frequent (79-30%) HP:0001263
10 umbilical hernia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001537
11 constipation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002019
12 abdominal distention 56 32 hallmark (90%) Very frequent (99-80%) HP:0003270
13 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
14 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
15 hypersomnia 56 32 hallmark (90%) Very frequent (99-80%) HP:0100786
16 abnormality of the face 56 Very frequent (99-80%)
17 growth delay 56 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:

id Genetic test Affiliating Genes
1 Thyroid Dyshormonogenesis 29

Anatomical Context for Familial Thyroid Dyshormonogenesis

MalaCards organs/tissues related to Familial Thyroid Dyshormonogenesis:

39
Thyroid

Publications for Familial Thyroid Dyshormonogenesis

Variations for Familial Thyroid Dyshormonogenesis

ClinVar genetic disease variations for Familial Thyroid Dyshormonogenesis:

6
id 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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.5 DUOX2 DUOXA2 IYD SLC5A5 TG TPO
2
Show member pathways
10.86 DUOX2 IYD SLC5A5 TPO
3 10.11 SLC5A5 TG TPO

GO Terms for Familial Thyroid Dyshormonogenesis

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

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

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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