CAHTP
MCID: CHR322
MIFTS: 40

Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress (CAHTP) malady

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

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

Aliases & Descriptions for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress:

Name: Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress 54 24 25 66 13 69
Brain-Lung-Thyroid Syndrome 50 25 56 66
Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 54 50 66
Choreoathetosis-Hypothyroidism-Neonatal Respiratory Distress Syndrome 50 56 29
Cahtp 50 25 66
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;

HPO:

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


Classifications:



External Ids:

OMIM 54 610978
Orphanet 56 ORPHA209905
ICD10 via Orphanet 34 E03.1
ICD10 33 P22

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 ataxia, respiratory distress and dystonia. An important gene associated with Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress is NKX2-1 (NK2 Homeobox 1). The drugs Midazolam and Propofol have been mentioned in the context of this disorder. Affiliated tissues include thyroid, lung and brain.

UniProtKB/Swiss-Prot : 66 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.

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... (610978) more...

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 43)
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 11.4
6 respiratory distress syndrome in premature infants 11.1
7 respiratory distress syndrome, infant 11.1
8 infantile cerebellar-retinal degeneration 11.0
9 episodic kinesigenic dyskinesia 1 10.9
10 rnase t2-deficient leukoencephalopathy 10.7
11 tardive dyskinesia 10.7
12 salla disease 10.7
13 glutaricaciduria, type i 10.7
14 dystonia 10.2
15 thyroiditis 10.2
16 cerebral palsy 10.1
17 cerebritis 10.1
18 spasticity 10.0
19 cervicitis 9.9
20 tremor 9.9
21 hyperuricemia 9.9
22 interstitial lung disease 9.8
23 lung disease 9.8
24 neonatal jaundice 9.8
25 reflex epilepsy 9.8
26 anoxia 9.8
27 encephalopathy 9.8
28 epilepsy 9.8
29 creutzfeldt-jakob disease 9.6
30 lesch-nyhan syndrome 9.6
31 ataxia 9.6
32 generalized dystonia 9.6
33 lymphoma 9.6
34 microcephaly 9.6
35 speech disorder 9.6
36 hemiplegia 9.6
37 encephalitis 9.6
38 nephrotic syndrome 9.6
39 typhoid fever 9.6
40 dwarfism 9.6
41 spondylosis 9.6
42 pachygyria 9.6
43 kernicterus 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 by clinical synopsis from OMIM:

610978

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 ataxia 32 HP:0001251
2 respiratory distress 32 HP:0002098
3 dystonia 32 HP:0001332
4 muscular hypotonia 32 HP:0001252
5 dysarthria 32 HP:0001260
6 sleep disturbance 32 HP:0002360
7 global developmental delay 32 HP:0001263
8 recurrent respiratory infections 32 HP:0002205
9 asthma 32 HP:0002099
10 difficulty walking 32 HP:0002355
11 motor delay 32 HP:0001270
12 choreoathetosis 32 HP:0001266
13 neonatal respiratory distress 32 HP:0002643
14 congenital hypothyroidism 32 HP:0000851
15 thyroid-stimulating hormone excess 32 HP:0002925
16 congenital septal defect 32 HP:0004760
17 compensated hypothyroidism 32 HP:0008223

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


ataxia, athetosis

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

Drugs for Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 385)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 4,Phase 3 59467-70-8 4192
2
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3 2078-54-8 4943
3
Remifentanil Approved Phase 4 132875-61-7 60815
4
Epinephrine Approved, Vet_approved Phase 4,Phase 2 51-43-4 5816
5
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-23-7 5754 657311
6 Beractant Approved Phase 4,Phase 2,Phase 3,Phase 1 108778-82-1
7 Poractant alfa Approved Phase 4,Phase 2,Phase 3 129069-19-8
8
Budesonide Approved Phase 4,Phase 2 51333-22-3 63006 5281004
9
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
10
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
11
Acetaminophen Approved Phase 4,Phase 2,Phase 3,Phase 1 103-90-2 1983
12
Clonidine Approved Phase 4 4205-90-7 2803
13
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
14
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
15
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
16
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
17
Carbon monoxide Approved Phase 4,Phase 1 630-08-0 281
18
Betamethasone Approved, Vet_approved Phase 4,Phase 3,Phase 2 378-44-9 9782
19
Benzocaine Approved Phase 4,Phase 2,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
20
Menthol Approved Phase 4,Phase 2 2216-51-5 16666
21
Povidone-iodine Approved Phase 4,Phase 3,Phase 2 25655-41-8
22
Metformin Approved Phase 4,Phase 2,Phase 3 657-24-9 14219 4091
23
Morphine Approved, Investigational Phase 4,Phase 2,Phase 3 57-27-2 5288826
24
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
25
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
26
Progesterone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 57-83-0 5994
27
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 50-02-2 5743
28
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 76631-46-4, 113775-47-6 68602 5311068 56032
29
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
30
Misoprostol Approved Phase 4 59122-46-2 5282381
31 tannic acid Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1
32
Glycine Approved, Nutraceutical, Vet_approved Phase 4,Phase 1,Phase 2 56-40-6 750
33
Butyric Acid Experimental Phase 4,Phase 3,Phase 2 107-92-6 264
34 Pulmonary Surfactants Phase 4,Phase 3,Phase 2,Phase 1
35 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Adjuvants, Anesthesia Phase 4,Phase 3
37 Anesthetics Phase 4,Phase 3,Phase 2
38 Anesthetics, General Phase 4,Phase 3
39 Anesthetics, Intravenous Phase 4,Phase 3
40 Anti-Anxiety Agents Phase 4,Phase 3
41 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
42 GABA Agents Phase 4,Phase 3
43 GABA Modulators Phase 4,Phase 3
44 Hypnotics and Sedatives Phase 4,Phase 3,Phase 1,Phase 2
45 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Psychotropic Drugs Phase 4,Phase 3
47 Tranquilizing Agents Phase 4,Phase 3
48 Cisatracurium Phase 4,Phase 3
49 Neuromuscular Agents Phase 4,Phase 1,Phase 2
50 Neuromuscular Blocking Agents Phase 4,Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 932)
id Name Status NCT ID Phase
1 Efficacy Evaluation of Surfactant Administration Via Laryngeal Mask Airway Unknown status NCT01173237 Phase 4
2 Propofol Versus Midazolam as Premedication for Preterm Neonates With Respiratory Distress Syndrome (RDS) Unknown status NCT00797160 Phase 4
3 Early CPAP in Respiratory Distress Syndrome Unknown status NCT00368680 Phase 4
4 Effects of Neuromuscular Blocking Agents (NMBA) on the Alteration of Transpulmonary Pressures at the Early Phase of Acute Respiratory Distress Syndrome (ARDS) Unknown status NCT01573715 Phase 4
5 Effect of Treatment With Stress-Doses Glucocorticoid in Patients With Acute Respiratory Distress Syndrome (ARDS) Unknown status NCT00773058 Phase 4
6 Two Strategies of RDS Treatment in Newborns With Birth Weight > 1500 Grams Unknown status NCT00277030 Phase 4
7 Brain Oxygenation and Function of Preterm Newborns During Administration of Two Different Surfactant Preparations Unknown status NCT01941524 Phase 4
8 Prevention of Chronic Lung Disease (CLD) in Preterm Infants Unknown status NCT00883532 Phase 4
9 Surfactant Administration During Spontaneous Breathing Unknown status NCT01329432 Phase 4
10 The Study of Using Esophageal Pressure to Guide the PEEP Setting in Abdominal Hypertension Patients Who Undergoing Mechanical Ventilation Unknown status NCT01825304 Phase 4
11 6-Methyl-Prednisolone for Multiple Organ Dysfunction Syndrome Unknown status NCT00127985 Phase 4
12 Epidural Analgesia for Pancreatitis (Epipan Study) Unknown status NCT02126332 Phase 4
13 Neurally Adjusted Ventilatory Assist (NAVA) vs. Pressure Support in Pediatric Acute Respiratory Failure Unknown status NCT01873521 Phase 4
14 FRC Guided Therapy in Acute Respiratory Failure Unknown status NCT01280019 Phase 4
15 Comparison of Nasal CPAP and Nasal SIMV in Transient Tachypnea of Newborn Unknown status NCT01499238 Phase 4
16 Comparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure. Unknown status NCT00331656 Phase 4
17 Randomized Controlled Trial of Surfactant Delivery Via Laryngeal Mask Airway (LMA) Versus Endotracheal Intubation Completed NCT01042600 Phase 4
18 Remifentanil Versus Morphine for Sedation of Premature Neonates With Respiratory Distress Syndrome Completed NCT00391105 Phase 4
19 Efficacy of Combining Prophylactic Curosurf With Early Nasal CPAP in Delivery Room: the Curpap Study Completed NCT00501982 Phase 4
20 Effects of Bolus Surfactant Therapy on Peripheral Perfusion Index and Tissue Carbon Monoxide Completed NCT01923844 Phase 4
21 Standard Treatment Compliance of Participants, Effectiveness and Prognosis in Acute Respiratory Distress Syndrome Completed NCT02178982 Phase 4
22 Diffuse Acute Respiratory Distress Syndrome (ARDS), Recruitment Maneuver, and sRAGE (DAMAGE Study) Completed NCT01600651 Phase 4
23 Synchronized Intermittent Mandatory Ventilation (SIMV) Versus Nasal Intermittent Positive Pressure Ventilation (NIPPV) In Preterm Infants With Respiratory Distress Completed NCT00486850 Phase 4
24 Effects of SEvoflurane on Gas Exchange and Inflammation in Patients With ARDS (SEGA Study) Completed NCT02166853 Phase 4
25 Caesarean and Corticotherapy Completed NCT00446953 Phase 4
26 Premedication for Non-Emergency Endotracheal Intubation In the NICU Completed NCT01749501 Phase 4
27 Comparison of Effectiveness of Nasal CPAP and Nasal IMV in Early Rescue Surfactant Treatment in Preterm Infants Completed NCT01741129 Phase 4
28 INFLACOR - Clinical and Genetic Predictors of Inflammation Related Complications After Heart Surgery Completed NCT01020409 Phase 4
29 Vaginal Progesterone for Prevention of Preterm Labor in Asymptomatic Twin Pregnancies With Sonographic Short Cervix Completed NCT02338830 Phase 4
30 Effect of Perioperative Lung Protective Strategies on the Occurrence of Postoperative Pulmonary Complications in Patients Undergoing Lumbar Spinal Surgery in the Prone Position Completed NCT02373475 Phase 4
31 Steroids in Bilateral Total Knee Replacement Completed NCT01399268 Phase 4
32 Non-Positive Pressure Ventilation in Hypoxemic Patients Completed NCT00925860 Phase 4
33 Evaluate the Use of Plastic Bags in Preventing and Treating Hypothermia in Neonates Completed NCT01403623 Phase 4
34 Evaluation of Use of Plastic Bags to Prevent Neonatal Hypothermia-Part IV Completed NCT01604447 Phase 4
35 Evaluation Of The Total Face Mask For Emergency Application In Acute Respiratory Failure Completed NCT00686257 Phase 4
36 Efficacy of 17 Alpha-hydroxyprogesterones Caproate for the Prevention of Preterm Delivery Completed NCT00331695 Phase 4
37 Intraoperative Protective Ventilation in Abdominal Surgery (IMPROVE Study) Completed NCT01282996 Phase 4
38 Study of Sivelestat Sodium Hydrate in Acute Lung Injury (ALI) Associated With Systemic Inflammatory Response Syndrome (SIRS) in Japan Completed NCT00219375 Phase 4
39 Surfactant Via Endotracheal Tube vs. Laryngeal Mask Airway (LMA) in Preterm Neonates With Respiratory Distress Syndrome Recruiting NCT02164734 Phase 4
40 Corticosteroid Mediates Acute Respiratory Distress Syndrome Recruiting NCT02819453 Phase 4
41 Efficacy Study of Dexamethasone to Treat the Acute Respiratory Distress Syndrome Recruiting NCT01731795 Phase 4
42 Impact of Fluid Resuscitation Therapy on Pulmonary Edema as Measured by Alveolar Fluid Clearance in Patients With Acute Respiratory Distress Syndrome (ARDS) Recruiting NCT01763853 Phase 4
43 Effect of Antenatal Steroid on Pulmonary Artery Blood Flow Recruiting NCT02978976 Phase 4
44 Vaginal Progesterone Versus Cervical Cerclage for Pregnant Women With Short Cervix and History of PTL and/or MTM Recruiting NCT02673359 Phase 4
45 Dexmedetomidine Versus Standard Clinical Practice During Non Invasive Mechanical Ventilation Recruiting NCT02958150 Phase 4
46 Early Non-invasive Ventilation Outside the Intensive Care Unit Recruiting NCT01572337 Phase 4
47 Preventing Cardiovascular collaPse With Administration of Fluid Resuscitation Before Endotracheal Intubation Recruiting NCT03026777 Phase 4
48 Evaluation of Use of Plastic Bags to Prevent Neonatal Hypothermia-Part I Recruiting NCT01604317 Phase 4
49 Evaluation of Use of Plastic Bags to Prevent Neonatal Hypothermia-Part II Recruiting NCT01604421 Phase 4
50 Evaluation of Use of Plastic Bags to Prevent Neonatal Hypothermia-Part III Recruiting NCT01604434 Phase 4

Search 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:

66
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

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....