MCID: ATH010
MIFTS: 38

Athyreosis

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Athyreosis

MalaCards integrated aliases for Athyreosis:

Name: Athyreosis 59

Characteristics:

Orphanet epidemiological data:

59
athyreosis
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe);

Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Athyreosis

MalaCards based summary : Athyreosis is related to hypothyroidism, congenital, nongoitrous, 2 and neonatal hypothyroidism. An important gene associated with Athyreosis is PAX8 (Paired Box 8), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Human Thyroid Stimulating Hormone (TSH) signaling pathway. Affiliated tissues include thyroid, bone and pituitary, and related phenotypes are hypothyroidism and muscular hypotonia

Related Diseases for Athyreosis

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, congenital, nongoitrous, 2 30.8 FOXE1 NKX2-1 PAX8 SLC26A4 TG TSHR
2 neonatal hypothyroidism 30.5 PAX8 TG TSHR
3 differentiated thyroid carcinoma 29.4 FOXE1 NKX2-1 PAX8 TG TSHR
4 hypothyroidism 29.2 FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TG
5 congenital hypothyroidism 29.1 FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TG
6 bamforth syndrome 11.3
7 neonatal thyrotoxicosis 10.1 PAX8 TSHR
8 nodular goiter 10.1 TG TSHR
9 hypothyroidism, congenital, nongoitrous, 1 10.1 FOXE1 TSHR
10 water-clear cell adenoma 10.1 PAX8 TG
11 thyroiditis 10.1 TG TSHR
12 benign struma ovarii 10.1 TG TSHR
13 endemic goiter 10.1 TG TSHR
14 thyroid ectopia 10.1 NKX2-5 PAX8
15 postsurgical hypothyroidism 10.1 TG TSHR
16 graves disease 1 10.1 TG TSHR
17 nontoxic goiter 10.1 TG TSHR
18 acute thyroiditis 10.1 FOXE1 TG
19 myxedema 10.1 TG TSHR
20 rete testis neoplasm 10.1 NKX2-1 PAX8
21 toxic diffuse goiter 10.1 TG TSHR
22 subacute thyroiditis 10.1 TG TSHR
23 ovarian germ cell teratoma 10.0 NKX2-1 TG
24 colloid adenoma 10.0 NKX2-1 TG
25 ovarian germ cell cancer 10.0 NKX2-1 TG
26 exophthalmos 10.0 TG TSHR
27 malignant struma ovarii 10.0 NKX2-1 TG
28 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.0 FOXE1 TG
29 fetal adenoma 10.0 NKX2-1 TG
30 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0 TG TSHR
31 autoimmune disease of endocrine system 10.0 TG TSHR
32 thymus cancer 10.0 NKX2-1 PAX8
33 ovarian cystic teratoma 10.0 NKX2-1 TG
34 thyroid hormone resistance, generalized, autosomal dominant 10.0
35 panencephalitis, subacute sclerosing 10.0
36 sarcoma 10.0
37 nephrocalcinosis 10.0
38 immune system disease 10.0 TG TSHR
39 hyperthyroidism 9.9 TG TSHR
40 dyshormonogenic goiter 9.9 SLC26A4 TG
41 chromosome 17q11.2 deletion syndrome, 1.4-mb 9.9 NKX2-5 SLC26A4
42 endocrine gland cancer 9.9 PAX8 TG
43 anaplastic thyroid cancer 9.9 NKX2-1 PAX8 TG
44 struma ovarii 9.9 NKX2-1 TG TSHR
45 patent foramen ovale 9.9 NKX2-1 NKX2-5
46 papillary thyroid microcarcinoma 9.9 NKX2-1 TG TSHR
47 wolff-parkinson-white syndrome 9.8 NKX2-5 SLC26A4
48 pendred syndrome 9.8 PAX8 SLC26A4 TG
49 thyroid carcinoma, familial medullary 9.8 NKX2-1 TG
50 hashimoto thyroiditis 9.8 SLC26A4 TG TSHR

Graphical network of the top 20 diseases related to Athyreosis:



Diseases related to Athyreosis

Symptoms & Phenotypes for Athyreosis

Human phenotypes related to Athyreosis:

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 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
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 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
9 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
10 intellectual disability, severe 59 32 frequent (33%) Frequent (79-30%) HP:0010864
11 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
12 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
13 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
14 hypersomnia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100786
15 thyroid agenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008191
16 growth delay 59 Frequent (79-30%)
17 abnormality of the face 59 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 9.87 FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TG
2 digestive/alimentary MP:0005381 9.77 FOXE1 NKX2-1 NKX2-5 SLC26A4 TG
3 growth/size/body region MP:0005378 9.73 FOXE1 NKX2-1 NKX2-5 PAX8 TG TSHR
4 homeostasis/metabolism MP:0005376 9.7 FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TG
5 nervous system MP:0003631 9.43 NKX2-1 NKX2-5 PAX8 SLC26A4 TG TSHR
6 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:

41
Thyroid, Bone, Pituitary, Testis, T Cells, Thymus

Publications for Athyreosis

Articles related to Athyreosis:

(show all 17)
# Title Authors Year
1
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis. ( 28455095 )
2017
2
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. ( 25305309 )
2014
3
Athyreosis, dysgenesis, and dyshormonogenesis in congenital hypothyroidism. ( 17551472 )
2006
4
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. ( 16882747 )
2006
5
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. ( 14725684 )
2004
6
Real time RT-PCR analysis of thyroglobulin mRNA in peripheral blood in patients with congenital athyreosis and with differentiated thyroid carcinoma after stimulation with recombinant human thyrotropin. ( 15497927 )
2004
7
Rapid progressive subacute sclerosing panencephalitis in a 2-year-old child with congenital athyreosis. ( 10913425 )
2000
8
Longitudinal assessment of L-T4 therapy for congenital hypothyroidism: differences between athyreosis vs ectopia and delayed vs normal bone age. ( 10689639 )
2000
9
Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities? ( 9589691 )
1998
10
The CHARGE association and athyreosis. ( 2051459 )
1991
11
Transient neonatal 'athyreosis' resulting from thyrotropin-binding inhibitory immunoglobulins. ( 2874542 )
1986
12
Effect of maternal athyreosis on rat embryos during the late phase of organogenesis. ( 4131146 )
1974
13
A method for evaluating an experimental athyreosis. ( 5068106 )
1972
14
Experimentally induced athyreosis in swine: clinical signs, radiographic changes, and necropsy observations. ( 5104928 )
1971
15
Lingual thyroid with cervical athyreosis. Case report. ( 13974808 )
1962
16
Skeletal changes and nephrocalcinosis in a case of athyreosis. ( 13994762 )
1962
17
Effect of athyreosis on the induction of rat sarcoma with 3-methylcholanthrene. ( 13345074 )
1956

Variations for Athyreosis

Expression for Athyreosis

Search GEO for disease gene expression data for Athyreosis.

Pathways for Athyreosis

GO Terms for Athyreosis

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.56 FOXE1 NKX2-1 NKX2-5 PAX8
2 negative regulation of transcription, DNA-templated GO:0045892 9.54 FOXE1 NKX2-1 NKX2-5
3 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.32 NKX2-5 PAX8
4 iodide transport GO:0015705 9.16 SLC26A4 TG
5 thyroid gland development GO:0030878 9.02 FOXE1 NKX2-1 NKX2-5 PAX8 TG
6 thyroid-stimulating hormone signaling pathway GO:0038194 8.96 PAX8 TSHR

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 9.71 FOXE1 NKX2-1 NKX2-5 PAX8
2 DNA-binding transcription factor activity GO:0003700 9.56 FOXE1 NKX2-1 NKX2-5 PAX8
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.54 NKX2-1 NKX2-5 PAX8
4 transcription regulatory region DNA binding GO:0044212 9.33 NKX2-1 NKX2-5 PAX8
5 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.32 NKX2-1 NKX2-5
6 sequence-specific DNA binding GO:0043565 9.26 FOXE1 NKX2-1 NKX2-5 PAX8
7 thyroid-stimulating hormone receptor activity GO:0004996 8.62 PAX8 TSHR

Sources for Athyreosis

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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