MCID: CHR322
MIFTS: 32

Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress

Categories: Genetic diseases, Rare diseases, Fetal diseases, Neuronal diseases, Respiratory diseases, Endocrine diseases

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

MalaCards integrated aliases for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress:

Name: Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress 54 24 25 71 29 13 69
Brain-Lung-Thyroid Syndrome 50 25 56 71
Cahtp 50 25 71
Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 50 71
Choreoathetosis-Hypothyroidism-Neonatal Respiratory Distress Syndrome 50 56
Blt Syndrome 50 25
Chreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 25
Choreoathetosis-Hypothyroidism-Neonatal Respiratory Distress 50
Respiratory Distress Syndrome, Newborn 42
Brain-Thyroid-Lung Syndrome 25
Athetosis 42

Characteristics:

Orphanet epidemiological data:

56
brain-lung-thyroid syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
allelic disorder to benign hereditary chorea , which is less severe


HPO:

32
choreoathetosis, hypothyroidism, and neonatal respiratory distress:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



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

NIH Rare Diseases : 50 brain-lung-thyroid syndrome is a rare movement disorder that begins in infancy with neurological disturbances, hypothyroidism, and respiratory problems. it is characterized by low muscle tone (hypotonia) which evolves into benign hereditary chorea and ataxia, neonatal respiratory distress syndrome and/or interstitial lung disease, and congenital hypothyroidism. the scope and severity of symptoms varies widely, even within families. treatment may include tetrabenazine and levodopa for chorea and thyroid replacement therapy for hypothyroidism. respiratory distress symptoms and interstitial lung disease should be treated as needed. brain-lung-thyroid syndrome is caused by mutations in the nkx2-1 gene. it is passed through families in an autosomal dominant fashion. brain-lung-thyroid syndrome represents the most severe expression of the nkx2-1-related disorders, with benign hereditary chorea at the milder end of the spectrum. last updated: 3/14/2016

MalaCards based summary : Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress, also known as brain-lung-thyroid syndrome, is related to athetosis and intellectual disability - athetosis - microphthalmia, and has symptoms including dystonia, dysarthria and ataxia. An important gene associated with Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress is NKX2-1 (NK2 Homeobox 1). Affiliated tissues include thyroid, lung and brain.

Genetics Home Reference : 25 Brain-lung-thyroid syndrome is a group of conditions that affect the brain, lungs, and thyroid gland (a butterfly-shaped gland in the lower neck). Brain-lung-thyroid syndrome historically included problems with all three organs, although the designation now encompasses a combination of brain, lung, and thyroid problems. About 50 percent of affected individuals have problems with all three organs, about 30 percent have brain and thyroid problems, and about 10 percent have brain and lung problems. The brain alone is affected in 10 to 20 percent of people with the condition. Such cases are sometimes called isolated benign hereditary chorea.

OMIM : 54
Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) is an autosomal dominant disorder characterized by onset of this triad of features in infancy. Movement abnormalities begin with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria. Some patients show neonatal respiratory distress and developmental delay. The phenotype is variable both between and within families (summary by Thorwarth et al., 2014). (610978)

UniProtKB/Swiss-Prot : 71 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...

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

(show all 44)
id Related Disease Score Top Affiliating Genes
1 athetosis 12.3
2 intellectual disability - athetosis - microphthalmia 11.8
3 idiopathic double athetosis 11.8
4 mitochondrial dna depletion syndrome 7 11.7
5 newborn respiratory distress syndrome 11.1
6 infantile cerebellar-retinal degeneration 11.0
7 episodic kinesigenic dyskinesia 1 10.9
8 basal ganglia calcification 10.7
9 choreatic disease 10.7
10 primary familial brain calcification 10.7
11 salla disease 10.7
12 neurodevelopmental disorder with involuntary movements 10.7
13 glutaricaciduria, type i 10.7
14 rnase t2-deficient leukoencephalopathy 10.7
15 tardive dyskinesia 10.7
16 dystonia 10.2
17 thyroiditis 10.2
18 cerebral palsy 10.2
19 cerebritis 10.2
20 spasticity 10.0
21 tremor 9.9
22 hyperuricemia 9.9
23 cervicitis 9.9
24 lung disease 9.8
25 interstitial lung disease 9.8
26 epilepsy 9.8
27 neonatal jaundice 9.8
28 reflex epilepsy 9.8
29 anoxia 9.8
30 encephalopathy 9.8
31 microcephaly 9.6
32 hemiplegia 9.6
33 speech disorder 9.6
34 nephrotic syndrome 9.6
35 encephalitis 9.6
36 typhoid fever 9.6
37 dwarfism 9.6
38 spondylosis 9.6
39 kernicterus 9.6
40 pachygyria 9.6
41 creutzfeldt-jakob disease 9.6
42 lesch-nyhan syndrome 9.6
43 ataxia 9.6
44 lymphoma 9.6

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 & Phenotypes for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory...

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
delayed motor development
dystonia
dysarthria
ataxia
more
Cardiovascular- Heart:
congenital septal defects (in some patients)

Endocrine Features:
hypothyroidism, congenital
hypoplasia of the thyroid gland in some patients

Respiratory:
recurrent respiratory infections
respiratory distress, neonatal
asthma (in some patients)

Metabolic Features:
unexplained fever (in some patients)

Laboratory- Abnormalities:
increased serum thyroid-stimulating hormone (tsh)
serum thyroxine may be decreased or normal
'compensated hypothyroidism' with increased tsh and normal t4


Clinical features from OMIM:

610978

Human phenotypes related to Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress:

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 dystonia 32 HP:0001332
2 dysarthria 32 HP:0001260
3 ataxia 32 HP:0001251
4 recurrent respiratory infections 32 HP:0002205
5 choreoathetosis 32 HP:0001266
6 global developmental delay 32 HP:0001263
7 respiratory distress 32 HP:0002098
8 motor delay 32 HP:0001270
9 muscular hypotonia 32 HP:0001252
10 asthma 32 occasional (7.5%) HP:0002099
11 difficulty walking 32 HP:0002355
12 neonatal respiratory distress 32 HP:0002643
13 compensated hypothyroidism 32 HP:0008223
14 congenital hypothyroidism 32 HP:0000851
15 sleep disturbance 32 occasional (7.5%) HP:0002360
16 increased thyroid-stimulating hormone level 32 HP:0002925
17 congenital septal defect 32 occasional (7.5%) HP:0004760

UMLS symptoms related to Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress:


ataxia, athetosis

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

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

Cochrane evidence based reviews: athetosis

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

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

id Genetic test Affiliating Genes
1 Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress 29 24 NKX2-1

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

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

39
Thyroid, Lung, Brain

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

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

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

71
id Symbol AA change Variation ID SNP ID
1 NKX2-1 p.Val205Phe VAR_034906 rs137852692
2 NKX2-1 p.Thr203Arg VAR_073040

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NKX2-1 NM_001079668.2(NKX2-1): c.703G> T (p.Val235Phe) single nucleotide variant Pathogenic rs137852692 GRCh37 Chromosome 14, 36986986: 36986986
2 NKX2-1 NM_001079668.2(NKX2-1): c.672_673dupGG (p.Ala225Glyfs) duplication Pathogenic rs587776707 GRCh37 Chromosome 14, 36987016: 36987017
3 NKX2-1 NM_001079668.2(NKX2-1): c.613G> T (p.Glu205Ter) single nucleotide variant Pathogenic rs137852693 GRCh37 Chromosome 14, 36987076: 36987076
4 NKX2-1 NM_003317.3(NKX2-1): c.254dupG (p.Tyr86Leufs) duplication Pathogenic rs587776709 GRCh37 Chromosome 14, 36988309: 36988309
5 NKX2-1 NM_001079668.2(NKX2-1): c.464-2A> G single nucleotide variant Pathogenic rs587776708 GRCh37 Chromosome 14, 36987227: 36987227
6 NKX2-1 NM_001079668.2(NKX2-1): c.524C> A (p.Ser175Ter) single nucleotide variant Pathogenic rs863225300 GRCh38 Chromosome 14, 36517960: 36517960
7 NKX2-1 NM_001079668.2(NKX2-1): c.635A> C (p.Gln212Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 36987054: 36987054

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

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

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

GO Terms for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory...

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

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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42 MeSH
43 MESH via Orphanet
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52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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