MCID: CHR322
MIFTS: 30

Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress malady

Genetic diseases, Rare diseases, Neuronal diseases, Respiratory diseases, Endocrine diseases categories

Aliases & Classifications for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory...

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress:

Name: Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress 49 11 65 67
Brain-Lung-Thyroid Syndrome 45 51 67
Choreoathetosis-Hypothyroidism-Neonatal Respiratory Distress Syndrome 51 24
Choreoathetosis Hypothyroidism Neonatal Respiratory Distress 45 22
 
Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 67
Apraxia, Developmental Verbal 65
Brain Lung Thyroid Syndrome 45
Cahtp 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
brain-lung-thyroid syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 610978
Orphanet51 209905
ICD10 via Orphanet28 E03.1

Summaries for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory...

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OMIM:49 Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) is an autosomal dominant... (610978) more...

MalaCards based summary: Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress, also known as brain-lung-thyroid syndrome, is related to thyroiditis and pycr1-related cutis laxa, and has symptoms including asthma, sleep disturbance and congenital septal defect. An important gene associated with Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress is NKX2-1 (NK2 Homeobox 1), and among its related pathways are Insulin secretion and Diseases of metabolism. Affiliated tissues include thyroid, lung and brain.

UniProtKB/Swiss-Prot:67 Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction: An autosomal dominant disorder that manifests in infancy with neurological disturbances, hypothyroidism, and respiratory problems. It is characterized by movement abnormalities beginning with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria.

Related Diseases for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory...

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Diseases related to Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis10.5
2pycr1-related cutis laxa9.8NKX2-1, TTF1
3chronic respiratory distress with surfactant metabolism deficiency9.7NKX2-1, TTF1
4restless legs syndrome 29.6NKX2-1, NMTC1, TTF1
5choreoathetosis, hypothyroidism, and neonatal respiratory distress9.6NKX2-1, NMTC1, TTF1
6chorea, hereditary benign9.4NKX2-1, NMTC1, TTF1

Graphical network of diseases related to Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress:



Diseases related to choreoathetosis, hypothyroidism, and neonatal respiratory distress

Symptoms for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory...

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Symptoms by clinical synopsis from OMIM:

610978

Clinical features from OMIM:

610978

HPO human phenotypes related to Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress:

(show all 19)
id Description Frequency HPO Source Accession
1 asthma rare (5%) HP:0002099
2 sleep disturbance rare (5%) HP:0002360
3 congenital septal defect rare (5%) HP:0004760
4 autosomal dominant inheritance HP:0000006
5 congenital hypothyroidism HP:0000851
6 ataxia HP:0001251
7 muscular hypotonia HP:0001252
8 dysarthria HP:0001260
9 global developmental delay HP:0001263
10 choreoathetosis HP:0001266
11 motor delay HP:0001270
12 dystonia HP:0001332
13 respiratory distress HP:0002098
14 recurrent respiratory infections HP:0002205
15 difficulty walking HP:0002355
16 neonatal respiratory distress HP:0002643
17 thyroid-stimulating hormone excess HP:0002925
18 congenital onset HP:0003577
19 compensated hypothyroidism HP:0008223

Drugs & Therapeutics for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress

Genetic Tests for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory...

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Genetic tests related to Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress:

id Genetic test Affiliating Genes
1 Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress22 24 NKX2-1

Anatomical Context for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory...

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MalaCards organs/tissues related to Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress:

33
Thyroid, Lung, Brain

Animal Models for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory... or affiliated genes

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Publications for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory...

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Variations for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory...

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UniProtKB/Swiss-Prot genetic disease variations for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress:

67
id Symbol AA change Variation ID SNP ID
1NKX2-1p.Val205PheVAR_034906
2NKX2-1p.Thr203ArgVAR_073040

Clinvar genetic disease variations for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NKX2-1NM_001079668.2(NKX2-1): c.524C> A (p.Ser175Ter)single nucleotide variantPathogenicGRCh38Chr 14, 36517960: 36517960
2NKX2-1NM_001079668.2(NKX2-1): c.703G> T (p.Val235Phe)single nucleotide variantPathogenicrs137852692GRCh37Chr 14, 36986986: 36986986
3NKX2-1NM_001079668.2(NKX2-1): c.672_673dupGG (p.Ala225Glyfs)duplicationPathogenicrs587776707GRCh37Chr 14, 36987016: 36987017
4NKX2-1NM_001079668.2(NKX2-1): c.613G> T (p.Glu205Ter)single nucleotide variantPathogenicrs137852693GRCh37Chr 14, 36987076: 36987076
5NKX2-1NM_003317.3(NKX2-1): c.254dupG (p.Tyr86Leufs)duplicationPathogenicrs587776709GRCh37Chr 14, 36988309: 36988309
6NKX2-1NM_001079668.2(NKX2-1): c.464-2A> Gsingle nucleotide variantPathogenicrs587776708GRCh37Chr 14, 36987227: 36987227

Expression for genes affiliated with Choreoathetosis, Hypothyroidism, and Neonatal Respiratory...

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Search GEO for disease gene expression data for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress.

Pathways for genes affiliated with Choreoathetosis, Hypothyroidism, and Neonatal Respiratory...

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GO Terms for genes affiliated with Choreoathetosis, Hypothyroidism, and Neonatal Respiratory...

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Sources for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory...

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet