MCID: CHR661
MIFTS: 34

Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction

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

Aliases & Classifications for Choreoathetosis and Congenital Hypothyroidism with or Without...

MalaCards integrated aliases for Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction:

Name: Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 57 53 75
Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress 57 25 75 29 13 6 40 73
Brain-Lung-Thyroid Syndrome 57 53 25 59 75 37
Cahtp 57 53 25 75
Choreoathetosis-Hypothyroidism-Neonatal Respiratory Distress Syndrome 53 59
Blt Syndrome 53 25
Chreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 25
Choreoathetosis-Hypothyroidism-Neonatal Respiratory Distress 53
Respiratory Distress Syndrome, Newborn 44
Brain-Thyroid-Lung Syndrome 25
Athetosis 44

Characteristics:

Orphanet epidemiological data:

59
brain-lung-thyroid syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Choreoathetosis and Congenital Hypothyroidism with or Without...

NIH Rare Diseases : 53 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.

MalaCards based summary : Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction, also known as choreoathetosis, hypothyroidism, and neonatal respiratory distress, is related to athetosis and intellectual disability - athetosis - microphthalmia, and has symptoms including ataxia and athetosis. An important gene associated with Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction is NKX2-1 (NK2 Homeobox 1). Affiliated tissues include thyroid, lung and brain, and related phenotypes are congenital hypothyroidism and ataxia

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 : 57 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 : 75 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 and Congenital Hypothyroidism with or Without...

Diseases related to Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 athetosis 12.4
2 intellectual disability - athetosis - microphthalmia 11.9
3 idiopathic double athetosis 11.9
4 mitochondrial dna depletion syndrome 7 11.8
5 newborn respiratory distress syndrome 11.5
6 respiratory distress syndrome in premature infants 11.3
7 respiratory distress syndrome, infant 11.3
8 kernicterus 11.2
9 infantile cerebellar-retinal degeneration 11.1
10 episodic kinesigenic dyskinesia 1 11.0
11 glutaric acidemia i 10.8
12 hyperphenylalaninemia, bh4-deficient, a 10.8
13 tardive dyskinesia 10.8
14 salla disease 10.8
15 neurodevelopmental disorder with involuntary movements 10.8
16 basal ganglia calcification 10.8
17 choreatic disease 10.8
18 rnase t2-deficient leukoencephalopathy 10.8
19 familial idiopathic basal ganglia calcification 10.8
20 dystonia 10.3
21 cerebral palsy 10.2
22 cerebritis 10.2
23 thyroiditis 10.2
24 spasticity 10.1
25 hyperuricemia 10.0
26 cervicitis 10.0
27 tremor 10.0
28 phenytoin toxicity 9.9
29 epilepsy 9.9
30 neonatal jaundice 9.9
31 reflex epilepsy 9.9
32 anoxia 9.9
33 encephalopathy 9.9
34 alzheimer disease 9.7
35 creutzfeldt-jakob disease 9.7
36 torticollis 9.7
37 lesch-nyhan syndrome 9.7
38 aging 9.7
39 bainbridge-ropers syndrome 9.7
40 lymphoma 9.7
41 microcephaly 9.7
42 hemiplegia 9.7
43 nephrotic syndrome 9.7
44 typhoid fever 9.7
45 spondylosis 9.7
46 movement disease 9.7
47 speech disorder 9.7
48 encephalitis 9.7
49 cerebral palsy athetoid 9.7
50 dwarfism 9.7

Graphical network of the top 20 diseases related to Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction:



Diseases related to Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction

Symptoms & Phenotypes for Choreoathetosis and Congenital Hypothyroidism with or Without...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
dysarthria
global developmental delay
dystonia
choreoathetosis
more
Laboratory Abnormalities:
increased serum thyroid-stimulating hormone (tsh)
serum thyroxine may be decreased or normal
'compensated hypothyroidism' with increased tsh and normal t4

Cardiovascular Heart:
congenital septal defects (in some patients)

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

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

Metabolic Features:
unexplained fever (in some patients)


Clinical features from OMIM:

610978

Human phenotypes related to Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 congenital hypothyroidism 32 HP:0000851
2 ataxia 32 HP:0001251
3 muscular hypotonia 32 HP:0001252
4 dysarthria 32 HP:0001260
5 global developmental delay 32 HP:0001263
6 choreoathetosis 32 HP:0001266
7 motor delay 32 HP:0001270
8 generalized hypotonia 32 HP:0001290
9 dystonia 32 HP:0001332
10 ventricular septal defect 32 HP:0001629
11 atrial septal defect 32 HP:0001631
12 abnormal cardiac septum morphology 32 occasional (7.5%) HP:0001671
13 respiratory distress 32 HP:0002098
14 asthma 32 occasional (7.5%) HP:0002099
15 recurrent respiratory infections 32 HP:0002205
16 difficulty walking 32 HP:0002355
17 sleep disturbance 32 occasional (7.5%) HP:0002360
18 neonatal respiratory distress 32 HP:0002643
19 increased thyroid-stimulating hormone level 32 HP:0002925
20 compensated hypothyroidism 32 HP:0008223

UMLS symptoms related to Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction:


ataxia, athetosis

Drugs & Therapeutics for Choreoathetosis and Congenital Hypothyroidism with or Without...

Search Clinical Trials , NIH Clinical Center for Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction

Cochrane evidence based reviews: athetosis

Genetic Tests for Choreoathetosis and Congenital Hypothyroidism with or Without...

Genetic tests related to Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction:

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

Anatomical Context for Choreoathetosis and Congenital Hypothyroidism with or Without...

MalaCards organs/tissues related to Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction:

41
Thyroid, Lung, Brain

Publications for Choreoathetosis and Congenital Hypothyroidism with or Without...

Articles related to Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction:

# Title Authors Year
1
Novel NKX2-1 Frameshift Mutations in Patients with Atypical Phenotypes of the Brain-Lung-Thyroid Syndrome. ( 25759798 )
2014
2
NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients. ( 24129101 )
2014
3
Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome. ( 22166853 )
2012
4
Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome. ( 22488412 )
2012
5
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. ( 19336474 )
2009

Variations for Choreoathetosis and Congenital Hypothyroidism with or Without...

UniProtKB/Swiss-Prot genetic disease variations for Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction:

75
# 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 and Congenital Hypothyroidism with or Without Pulmonary Dysfunction:

6
(show top 50) (show all 70)
# 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.703G> T (p.Val235Phe) single nucleotide variant Pathogenic rs137852692 GRCh38 Chromosome 14, 36517781: 36517781
3 NKX2-1 NM_001079668.2(NKX2-1): c.672_673dupGG (p.Ala225Glyfs) duplication Pathogenic rs587776707 GRCh37 Chromosome 14, 36987016: 36987017
4 NKX2-1 NM_001079668.2(NKX2-1): c.672_673dupGG (p.Ala225Glyfs) duplication Pathogenic rs587776707 GRCh38 Chromosome 14, 36517811: 36517812
5 NKX2-1 NM_001079668.2(NKX2-1): c.613G> T (p.Glu205Ter) single nucleotide variant Pathogenic rs137852693 GRCh37 Chromosome 14, 36987076: 36987076
6 NKX2-1 NM_001079668.2(NKX2-1): c.613G> T (p.Glu205Ter) single nucleotide variant Pathogenic rs137852693 GRCh38 Chromosome 14, 36517871: 36517871
7 NKX2-1 NM_003317.3(NKX2-1): c.254dupG (p.Tyr86Leufs) duplication Pathogenic rs587776709 GRCh37 Chromosome 14, 36988309: 36988309
8 NKX2-1 NM_003317.3(NKX2-1): c.254dupG (p.Tyr86Leufs) duplication Pathogenic rs587776709 GRCh38 Chromosome 14, 36519104: 36519104
9 NKX2-1 NM_001079668.2(NKX2-1): c.464-2A> G single nucleotide variant Pathogenic rs587776708 GRCh37 Chromosome 14, 36987227: 36987227
10 NKX2-1 NM_001079668.2(NKX2-1): c.464-2A> G single nucleotide variant Pathogenic rs587776708 GRCh38 Chromosome 14, 36518022: 36518022
11 NKX2-1 NM_001079668.2(NKX2-1): c.1106C> T (p.Ala369Val) single nucleotide variant Likely benign rs537209983 GRCh37 Chromosome 14, 36986583: 36986583
12 NKX2-1 NM_001079668.2(NKX2-1): c.1106C> T (p.Ala369Val) single nucleotide variant Likely benign rs537209983 GRCh38 Chromosome 14, 36517378: 36517378
13 NKX2-1 NM_001079668.2(NKX2-1): c.524C> A (p.Ser175Ter) single nucleotide variant Pathogenic rs863225300 GRCh38 Chromosome 14, 36517960: 36517960
14 NKX2-1 NM_001079668.2(NKX2-1): c.524C> A (p.Ser175Ter) single nucleotide variant Pathogenic rs863225300 GRCh37 Chromosome 14, 36987165: 36987165
15 NKX2-1 NM_001079668.2(NKX2-1): c.*579C> G single nucleotide variant Likely benign rs566916288 GRCh37 Chromosome 14, 36985904: 36985904
16 NKX2-1 NM_001079668.2(NKX2-1): c.*579C> G single nucleotide variant Likely benign rs566916288 GRCh38 Chromosome 14, 36516699: 36516699
17 NKX2-1 NM_001079668.2(NKX2-1): c.*544G> A single nucleotide variant Uncertain significance rs886050478 GRCh37 Chromosome 14, 36985939: 36985939
18 NKX2-1 NM_001079668.2(NKX2-1): c.*544G> A single nucleotide variant Uncertain significance rs886050478 GRCh38 Chromosome 14, 36516734: 36516734
19 NKX2-1 NM_001079668.2(NKX2-1): c.*459_*460dupTT duplication Uncertain significance rs112799458 GRCh37 Chromosome 14, 36986023: 36986024
20 NKX2-1 NM_001079668.2(NKX2-1): c.*459_*460dupTT duplication Uncertain significance rs112799458 GRCh38 Chromosome 14, 36516818: 36516819
21 NKX2-1 NM_001079668.2(NKX2-1): c.*210T> A single nucleotide variant Benign rs10139625 GRCh37 Chromosome 14, 36986273: 36986273
22 NKX2-1 NM_001079668.2(NKX2-1): c.*210T> A single nucleotide variant Benign rs10139625 GRCh38 Chromosome 14, 36517068: 36517068
23 NKX2-1 NM_001079668.2(NKX2-1): c.1200C> T (p.Thr400=) single nucleotide variant Uncertain significance rs886050481 GRCh37 Chromosome 14, 36986489: 36986489
24 NKX2-1 NM_001079668.2(NKX2-1): c.1200C> T (p.Thr400=) single nucleotide variant Uncertain significance rs886050481 GRCh38 Chromosome 14, 36517284: 36517284
25 NKX2-1 NM_001079668.2(NKX2-1): c.816C> T (p.Thr272=) single nucleotide variant Uncertain significance rs886050483 GRCh38 Chromosome 14, 36517668: 36517668
26 NKX2-1 NM_001079668.2(NKX2-1): c.816C> T (p.Thr272=) single nucleotide variant Uncertain significance rs886050483 GRCh37 Chromosome 14, 36986873: 36986873
27 NKX2-1 NM_001079668.2(NKX2-1): c.535G> T (p.Val179Leu) single nucleotide variant Likely benign rs575848748 GRCh38 Chromosome 14, 36517949: 36517949
28 NKX2-1 NM_001079668.2(NKX2-1): c.535G> T (p.Val179Leu) single nucleotide variant Likely benign rs575848748 GRCh37 Chromosome 14, 36987154: 36987154
29 NKX2-1 NM_001079668.2(NKX2-1): c.435C> G (p.Gly145=) single nucleotide variant Uncertain significance rs886050484 GRCh38 Chromosome 14, 36519013: 36519013
30 NKX2-1 NM_001079668.2(NKX2-1): c.435C> G (p.Gly145=) single nucleotide variant Uncertain significance rs886050484 GRCh37 Chromosome 14, 36988218: 36988218
31 NKX2-1 NM_001079668.2(NKX2-1): c.-71C> A single nucleotide variant Uncertain significance rs886050485 GRCh38 Chromosome 14, 36520200: 36520200
32 NKX2-1 NM_001079668.2(NKX2-1): c.-71C> A single nucleotide variant Uncertain significance rs886050485 GRCh37 Chromosome 14, 36989405: 36989405
33 NKX2-1 NM_001079668.2(NKX2-1): c.*470A> G single nucleotide variant Uncertain significance rs886050479 GRCh37 Chromosome 14, 36986013: 36986013
34 NKX2-1 NM_001079668.2(NKX2-1): c.*470A> G single nucleotide variant Uncertain significance rs886050479 GRCh38 Chromosome 14, 36516808: 36516808
35 NKX2-1 NM_001079668.2(NKX2-1): c.*436A> C single nucleotide variant Likely benign rs79849967 GRCh37 Chromosome 14, 36986047: 36986047
36 NKX2-1 NM_001079668.2(NKX2-1): c.*436A> C single nucleotide variant Likely benign rs79849967 GRCh38 Chromosome 14, 36516842: 36516842
37 NKX2-1 NM_001079668.2(NKX2-1): c.*292dupG duplication Benign rs140427692 GRCh38 Chromosome 14, 36516986: 36516986
38 NKX2-1 NM_001079668.2(NKX2-1): c.*292dupG duplication Benign rs140427692 GRCh37 Chromosome 14, 36986191: 36986191
39 NKX2-1 NM_001079668.2(NKX2-1): c.1093G> T (p.Ala365Ser) single nucleotide variant Benign/Likely benign rs147542347 GRCh37 Chromosome 14, 36986596: 36986596
40 NKX2-1 NM_001079668.2(NKX2-1): c.1093G> T (p.Ala365Ser) single nucleotide variant Benign/Likely benign rs147542347 GRCh38 Chromosome 14, 36517391: 36517391
41 NKX2-1 NM_001079668.2(NKX2-1): c.657G> A (p.Pro219=) single nucleotide variant Uncertain significance rs778886269 GRCh38 Chromosome 14, 36517827: 36517827
42 NKX2-1 NM_001079668.2(NKX2-1): c.657G> A (p.Pro219=) single nucleotide variant Uncertain significance rs778886269 GRCh37 Chromosome 14, 36987032: 36987032
43 NKX2-1 NM_001079668.2(NKX2-1): c.29G> A (p.Arg10Gln) single nucleotide variant Likely benign rs201979429 GRCh38 Chromosome 14, 36520101: 36520101
44 NKX2-1 NM_001079668.2(NKX2-1): c.29G> A (p.Arg10Gln) single nucleotide variant Likely benign rs201979429 GRCh37 Chromosome 14, 36989306: 36989306
45 NKX2-1 NM_001079668.2(NKX2-1): c.-85G> T single nucleotide variant Benign rs2076751 GRCh38 Chromosome 14, 36520214: 36520214
46 NKX2-1 NM_001079668.2(NKX2-1): c.-85G> T single nucleotide variant Benign rs2076751 GRCh37 Chromosome 14, 36989419: 36989419
47 NKX2-1 NM_001079668.2(NKX2-1): c.*820A> G single nucleotide variant Uncertain significance rs886050477 GRCh37 Chromosome 14, 36985663: 36985663
48 NKX2-1 NM_001079668.2(NKX2-1): c.*820A> G single nucleotide variant Uncertain significance rs886050477 GRCh38 Chromosome 14, 36516458: 36516458
49 NKX2-1 NM_001079668.2(NKX2-1): c.*581delC deletion Likely benign rs534281105 GRCh37 Chromosome 14, 36985902: 36985902
50 NKX2-1 NM_001079668.2(NKX2-1): c.*581delC deletion Likely benign rs534281105 GRCh38 Chromosome 14, 36516697: 36516697

Expression for Choreoathetosis and Congenital Hypothyroidism with or Without...

Search GEO for disease gene expression data for Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction.

Pathways for Choreoathetosis and Congenital Hypothyroidism with or Without...

GO Terms for Choreoathetosis and Congenital Hypothyroidism with or Without...

Sources for Choreoathetosis and Congenital Hypothyroidism with or Without...

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