MCID: CHR322
MIFTS: 37

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:
45OMIM, 10diseasecard, 60UMLS, 41NIH Rare Diseases, 47Orphanet, 20GeneTests, 22GTR, 26ICD10 via Orphanet
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Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress, Aliases & Descriptions:

Name: Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress 45 10 60
Choreoathetosis - Hypothyroidism - Neonatal Respiratory Distress 47 22
Choreoathetosis Hypothyroidism Neonatal Respiratory Distress 41 20
Speech and Language Disorder with Orofacial Dyspraxia 41 47
Developmental Verbal Dyspraxia 41 47
Brain-Lung-Thyroid Syndrome 41 47
 
Childhood Apraxia of Speech 41 47
Cas 41 47
Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 45
Apraxia, Developmental Verbal 60
Brain Lung Thyroid Syndrome 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
speech and language disorder with orofacial dyspraxia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy
choreoathetosis - hypothyroidism - neonatal respiratory distress:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 610978
Orphanet47 209908, 209905
ICD10 via Orphanet26 E03.1

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

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OMIM:45 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 choreoathetosis - hypothyroidism - neonatal respiratory distress, is related to breast cancer and neuronitis, 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). The compound estrogen have been mentioned in the context of this disorder. Affiliated tissues include thyroid, lung and brain.

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

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Graphical network of the top 20 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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Drug clinical trials:

Search ClinicalTrials for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress

Search 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 Distress20 22 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:

31
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:

62
id Symbol AA change Variation ID SNP ID
1NKX2-1p.Val205PheVAR_034906

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1FOXP2NM_148898.3(FOXP2): c.1733G> A (p.Arg578His)single nucleotide variantPathogenicrs121908377GRCh37Chr 7, 114302130: 114302130
2FOXP2NM_148898.3(FOXP2): c.1057C> T (p.Arg353Ter)single nucleotide variantPathogenicrs121908378GRCh37Chr 7, 114282671: 114282671
3NKX2-1NM_001079668.2(NKX2-1): c.703G> T (p.Val235Phe)single nucleotide variantPathogenicrs137852692GRCh37Chr 14, 36986986: 36986986
4NKX2-1NM_001079668.2(NKX2-1): c.672_673dupGG (p.Ala225Glyfs)duplicationPathogenicGRCh37Chr 14, 36987016: 36987017
5NKX2-1NM_001079668.2(NKX2-1): c.613G> T (p.Glu205Ter)single nucleotide variantPathogenicrs137852693GRCh37Chr 14, 36987076: 36987076
6NKX2-1NM_003317.3(NKX2-1): c.254dupG (p.Tyr86Leufs)duplicationPathogenicGRCh37Chr 14, 36988309: 36988309
7NKX2-1NM_001079668.2(NKX2-1): c.464-2A> Gsingle nucleotide variantPathogenicGRCh37Chr 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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Compounds for genes affiliated with Choreoathetosis, Hypothyroidism, and Neonatal Respiratory...

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Sources:
43Novoseek
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Compounds related to Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1estrogen439.3NKX2-1, FOXP2

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

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Cellular components related to Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056348.5NKX2-1, FOXP2, TTF1

Molecular functions related to Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00037009.3NKX2-1, FOXP2
2sequence-specific DNA bindingGO:00435659.0NKX2-1, FOXP2
3chromatin bindingGO:00036829.0FOXP2, TTF1
4DNA bindingGO:00036778.5NKX2-1, FOXP2, TTF1

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

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet