MCID: ATH010
MIFTS: 34

Athyreosis

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Athyreosis

MalaCards integrated aliases for Athyreosis:

Name: Athyreosis 58

Characteristics:

Orphanet epidemiological data:

58
athyreosis
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe);

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Athyreosis

MalaCards based summary : Athyreosis is related to hypothyroidism, congenital, nongoitrous, 2 and myxedema. An important gene associated with Athyreosis is TSHR (Thyroid Stimulating Hormone Receptor), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Human Thyroid Stimulating Hormone (TSH) signaling pathway. Affiliated tissues include thyroid, cerebellum and cortex, and related phenotypes are constipation and hypothyroidism

Related Diseases for Athyreosis

Diseases related to Athyreosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, congenital, nongoitrous, 2 30.3 TSHR TG SLC26A4 PAX8 NKX2-1 FOXE1
2 myxedema 29.9 TSHR TG
3 graves disease 1 29.7 TSHR TG
4 hypothyroidism, congenital, nongoitrous, 1 29.5 TSHR TG PAX8 FOXE1
5 thyroid ectopia 29.4 PAX8 NKX2-5
6 graves' disease 29.4 TSHR TG PAX8
7 hyperthyroidism 29.2 TSHR TG
8 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 29.1 SLC26A4 PAX8 NKX2-1 FOXE1
9 thyroid carcinoma 28.9 TSHR TG SLC26A4 PAX8 NKX2-1
10 differentiated thyroid carcinoma 28.7 TSHR TG PAX8 NKX2-1 FOXE1
11 hypothyroidism 28.5 TSHR TG SLC26A4 PAX8 NKX2-5 NKX2-1
12 congenital hypothyroidism 28.4 TSHR TG SLC26A4 PAX8 NKX2-5 NKX2-1
13 bamforth syndrome 11.2
14 nodular goiter 10.1 TSHR TG
15 thymus basaloid carcinoma 10.1 PAX8 NKX2-1
16 iodine hypothyroidism 10.1 TSHR TG
17 thyroid crisis 10.0 TSHR TG
18 toxic diffuse goiter 10.0 TSHR TG
19 thyroiditis 10.0 TSHR TG
20 thymus clear cell carcinoma 10.0 PAX8 NKX2-1
21 subacute lymphocytic thyroiditis 10.0 TSHR TG
22 peritoneal serous adenocarcinoma 10.0 PAX8 NKX2-1
23 atypical follicular adenoma 10.0 TG PAX8
24 plummer's disease 10.0 TSHR TG
25 thyroid sarcoma 10.0 TG PAX8
26 suppurative thyroiditis 10.0 TSHR TG
27 clear cell adenoma 10.0 TG PAX8
28 nontoxic goiter 10.0 TSHR TG
29 orbital disease 10.0 TSHR TG
30 malignant struma ovarii 10.0 TG NKX2-1
31 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0 TSHR TG
32 carotid body cancer 10.0 TG NKX2-1
33 ovarian benign neoplasm 10.0 TG PAX8
34 subacute thyroiditis 10.0 TSHR TG
35 tall cell variant papillary carcinoma 9.9 TG NKX2-1
36 ectopic thymus 9.9 TG NKX2-1
37 ovarian germ cell teratoma 9.9 TG NKX2-1
38 uterus leiomyosarcoma 9.9 TG NKX2-1
39 thyroid hormone resistance, generalized, autosomal dominant 9.9 TSHR TG
40 papillary serous adenocarcinoma 9.9 PAX8 NKX2-1
41 ovarian germ cell cancer 9.9 TG NKX2-1
42 exophthalmos 9.9 TSHR TG
43 autoimmune disease of endocrine system 9.9 TSHR TG
44 cleft palate, isolated 9.8
45 coloboma of macula 9.8
46 vesicoureteral reflux 1 9.8
47 charge syndrome 9.8
48 cryptorchidism, unilateral or bilateral 9.8
49 subacute sclerosing panencephalitis 9.8
50 branchiootic syndrome 1 9.8

Graphical network of the top 20 diseases related to Athyreosis:



Diseases related to Athyreosis

Symptoms & Phenotypes for Athyreosis

Human phenotypes related to Athyreosis:

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 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
4 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
5 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
6 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
7 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
8 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
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 thyroid agenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008191
12 hypotonia 31 hallmark (90%) HP:0001252
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 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
16 muscular hypotonia 58 Very frequent (99-80%)
17 growth delay 58 Frequent (79-30%)
18 abnormality of the face 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Athyreosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.91 FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TG
2 growth/size/body region MP:0005378 9.87 FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TG
3 digestive/alimentary MP:0005381 9.8 FOXE1 NKX2-1 NKX2-5 SLC26A4 TG
4 homeostasis/metabolism MP:0005376 9.8 FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TG
5 nervous system MP:0003631 9.63 NKX2-1 NKX2-5 PAX8 SLC26A4 TG TSHR
6 reproductive system MP:0005389 9.35 NKX2-1 PAX8 SLC26A4 TG TSHR
7 skeleton MP:0005390 9.02 NKX2-1 PAX8 SLC26A4 TG TSHR

Drugs & Therapeutics for Athyreosis

Search Clinical Trials , NIH Clinical Center for Athyreosis

Genetic Tests for Athyreosis

Anatomical Context for Athyreosis

MalaCards organs/tissues related to Athyreosis:

40
Thyroid, Cerebellum, Cortex, Pituitary

Publications for Athyreosis

Articles related to Athyreosis:

(show top 50) (show all 145)
# Title Authors PMID Year
1
Ectopic thyroid with benign and malignant findings: A case series. 61
31790949 2020
2
Genetic testing of PAX8 mutations associated with thyroid dysgenesis in Chinese congenital hypothyroidism patients. 61
32096550 2020
3
Thirty years of the newborn screening program in Central Serbia: the missed cases of congenital hypothyroidism. 61
31916707 2019
4
Screening of congenital hyperthyroidism in Morocco: a pilot study. 61
30701521 2019
5
Final height of Korean patients with early treated congenital hypothyroidism. 61
30032589 2018
6
The etiologies and incidences of congenital hypothyroidism before and after neonatal TSH screening program implementation: a study in southern Thailand. 61
29750647 2018
7
Decreased sensitivity of thyrotropin-thyroid hormone feedback control in hypothyroid and athyreotic patients treated with levothyroxine. Is serum triiodothyronine involved? 61
29530271 2018
8
Genetic Defects in Thyroid Hormone Supply 61
25905381 2018
9
TARGETED LEVOTHYROXINE THERAPY FOR TREATMENT OF CONGENITAL HYPOTHYROIDISM. 61
28683242 2017
10
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis. 61
28455095 2017
11
Disorders of thyroid morphogenesis. 61
28648504 2017
12
Minireview: Insights Into the Structural and Molecular Consequences of the TSH-β Mutation C105Vfs114X. 61
27387040 2016
13
Similar age-dependent levothyroxine requirements of schoolchildren with congenital or acquired hypothyroidism. 61
26856857 2016
14
Changes in the incidence and etiology of congenital hypothyroidism detected during 30 years of a screening program in central Serbia. 61
26346241 2016
15
Congenital Hypothyroidism: Long-Term Experience with Early and High Levothyroxine Dosage. 61
26881423 2016
16
Levothyroxine requirement in congenital hypothyroidism: a 12-year longitudinal study. 61
25762444 2015
17
Even in the era of congenital hypothyroidism screening mild and subclinical sensorineural hearing loss remains a relatively common complication of severe congenital hypothyroidism. 61
25987501 2015
18
Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion. 61
25153578 2015
19
Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome. 61
25750738 2015
20
The ratio of serum free triiodothyronine to free thyroxine in children: a retrospective database survey of healthy short individuals and patients with severe thyroid hypoplasia or central hypothyroidism. 61
26157488 2015
21
The different requirement of L-T4 therapy in congenital athyreosis compared with adult-acquired hypothyroidism suggests a persisting thyroid hormone resistance at the hypothalamic-pituitary level. 61
25305309 2014
22
Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations. 61
25214233 2014
23
A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expression. 61
24219130 2014
24
Diagnostic and predictive value of ultrasound and isotope thyroid scanning, alone and in combination, in infants referred with thyroid-stimulating hormone elevation on newborn screening. 61
24412140 2014
25
Genetics of normal and abnormal thyroid development in humans. 61
24629857 2014
26
Diagnosis, treatment and outcome of congenital hypothyroidism. 61
25231444 2014
27
Factors associated with hearing impairment in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study. 61
23780375 2013
28
Optimising outcome in congenital hypothyroidism; current opinions on best practice in initial assessment and subsequent management. 61
23154163 2013
29
Permanent and transient congenital hypothyroidism in Fayoum, Egypt: a descriptive retrospective study. 61
23840807 2013
30
A levothyroxine dose recommendation for the treatment of children and adolescents with autoimmune thyroiditis induced hypothyroidism. 61
23751387 2013
31
[Newborn Screening Program for congenital hypothyroidism of the State of Santa Catarina, Brazil: etiological investigation in the first visit]. 61
23329185 2012
32
Fecundity in young adults treated early for congenital hypothyroidism is related to the initial severity of the disease: a longitudinal population-based cohort study. 61
22419725 2012
33
Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis. 61
22666732 2012
34
Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy. 61
22004907 2012
35
Ultrasonographic description of brain cortex and cingulate sulcus development in Mexican neonates and infants with congenital hypothyroidism. 61
22570956 2012
36
Impaired neuromotor outcome in school-age children with congenital hypothyroidism receiving early high-dose substitution treatment. 61
21857388 2011
37
Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Québec. 61
21632812 2011
38
Congenital hypothyroidism: etiology. 61
21073124 2010
39
Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. 61
20427504 2010
40
Morphogenesis of the thyroid gland. 61
20026174 2010
41
[Influence of thyroid morphology on psychomotor development in patients with congenital hypothyroidism during 8 year follow-up]. 61
20467377 2010
42
[Analysis of changes in peripheral and central nervous system in irregularly treated adult patients with primary congenital hypothyroidism]. 61
20815165 2010
43
Etiology of congenital hypothyroidism using thyroglobulin and ultrasound combination. 61
20467163 2010
44
Spectrum of Human Foxe1/TTF2 Mutations. 61
20453517 2010
45
Children with congenital hypothyroidism: long-term intellectual outcome after early high-dose treatment. 61
18787501 2009
46
Should the levothyroxine starting dose be tailored to disease severity in neonates with congenital hypothyroidism? 61
18825139 2008
47
A novel therapeutic paradigm to treat congenital hypothyroidism. 61
18598275 2008
48
In the Italian population sexual dimorphism affects pre-natal thyroid migration but not biochemical severity of gland ectopia and pre-natal bone maturation. 61
18475053 2008
49
Thyroid functions in children with Down's syndrome. 61
18386545 2008
50
Screening of parents and siblings of patients with thyroid dysgenesis by thyroid function tests and ultrasound. 61
18953170 2008

Variations for Athyreosis

Expression for Athyreosis

Search GEO for disease gene expression data for Athyreosis.

Pathways for Athyreosis

Pathways related to Athyreosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.03 TSHR TG SLC26A4 PAX8
2 10.99 TSHR PAX8
3 9.4 TSHR TG

GO Terms for Athyreosis

Cellular components related to Athyreosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 8.92 PAX8 NKX2-5 NKX2-1 FOXE1

Biological processes related to Athyreosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.71 PAX8 NKX2-5 NKX2-1 FOXE1
2 cell differentiation GO:0030154 9.67 PAX8 NKX2-5 NKX2-1 FOXE1
3 positive regulation of transcription, DNA-templated GO:0045893 9.62 PAX8 NKX2-5 NKX2-1 FOXE1
4 thyroid hormone generation GO:0006590 9.26 TG FOXE1
5 iodide transport GO:0015705 9.16 TG SLC26A4
6 thyroid gland development GO:0030878 9.02 TG PAX8 NKX2-5 NKX2-1 FOXE1
7 thyroid-stimulating hormone signaling pathway GO:0038194 8.96 TSHR PAX8

Molecular functions related to Athyreosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.67 PAX8 NKX2-5 NKX2-1 FOXE1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.62 PAX8 NKX2-5 NKX2-1 FOXE1
3 sequence-specific double-stranded DNA binding GO:1990837 9.58 PAX8 NKX2-5 FOXE1
4 DNA-binding transcription factor activity GO:0003700 9.46 PAX8 NKX2-5 NKX2-1 FOXE1
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.43 PAX8 NKX2-5 NKX2-1
6 sequence-specific DNA binding GO:0043565 9.26 PAX8 NKX2-5 NKX2-1 FOXE1
7 thyroid-stimulating hormone receptor activity GO:0004996 8.62 TSHR PAX8

Sources for Athyreosis

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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