CAHTP
MCID: CHR661
MIFTS: 48

Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction (CAHTP)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory 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 56 52 73
Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress 56 25 73 29 13 6 39 71
Brain-Lung-Thyroid Syndrome 56 52 25 58 73 36
Cahtp 56 52 25 73
Choreoathetosis-Hypothyroidism-Neonatal Respiratory Distress Syndrome 52 58
Blt Syndrome 52 25
Chreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 25
Choreoathetosis-Hypothyroidism-Neonatal Respiratory Distress 52
Respiratory Distress Syndrome, Newborn 43
Brain-Thyroid-Lung Syndrome 25
Athetosis 43

Characteristics:

Orphanet epidemiological data:

58
brain-lung-thyroid syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare respiratory diseases
Rare endocrine diseases


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

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. Nearly everyone with brain-lung-thyroid syndrome has brain-related movement abnormalities. Benign hereditary chorea is the most common feature of the syndrome. This feature is associated with involuntary jerking movements (chorea) of the face, torso, and limbs; writhing movements (athetosis) of the limbs; and other movement problems. Individuals with brain-lung-thyroid syndrome can have other abnormalities, such as difficulty coordinating movements (ataxia), muscle twitches (myoclonus), and involuntary muscle contractions that result in twisting and repetitive movements (dystonia). The movement problems typically begin around age 1, although they can begin in early infancy or later in life, and are often preceded by weak muscle tone (hypotonia). They can delay the development of walking. The movement problems usually remain stable and can improve over time. Some affected individuals also have learning difficulties or intellectual disability. Thyroid problems are the next most common feature of brain-lung-thyroid syndrome. The thyroid gland makes hormones that help regulate a wide variety of critical body functions, including growth, brain development, and the rate of chemical reactions in the body (metabolism). Many affected individuals have reduced thyroid function from birth (congenital hypothyroidism), resulting in lower-than-normal levels of thyroid hormones. Others have a milder condition called compensated or subclinical hypothyroidism, in which thyroid hormone levels are within the normal range, even though the thyroid is not functioning properly. While most people with brain-lung-thyroid syndrome have a normal-sized thyroid, the gland is reduced in size (hypoplastic) or absent (aplastic) in some affected individuals. Although a shortage of thyroid hormones can cause intellectual disability and other neurological problems, it is unclear whether such issues in individuals with brain-lung-thyroid syndrome are due to hypothyroidism or to the brain abnormalities related to the condition. Lung problems are common in brain-lung-thyroid syndrome. Some affected newborns have respiratory distress syndrome, which causes extreme difficulty breathing and can be life-threatening. Other affected individuals develop widespread lung damage (interstitial lung disease) or scarring in the lungs (pulmonary fibrosis), both of which can also lead to breathing problems. Recurrent lung infections, which can be life-threatening, also occur in people with brain-lung-thyroid syndrome. People with brain-lung-thyroid syndrome have a higher risk of developing lung cancer than do people in the general population.

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). The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include lung, thyroid and brain, and related phenotypes are ataxia and respiratory distress

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Choreoathetosis, hypothyroidism, and neonatal respiratory distress is a syndrome of congenital hypothyroidism associated with pulmonary problems, mental retardation, muscular hypotonia and persistent ataxia which could be described as choreoathetosis. This disorder is attributed to mutations of the NKX2.1, a homeodomain transcription factor expressed in the developing thyroid, respiratory epithelium, and specific areas of the forebrain during embrypgenesis.

UniProtKB/Swiss-Prot : 73 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 114)
# Related Disease Score Top Affiliating Genes
1 athetosis 12.7
2 intellectual disability - athetosis - microphthalmia 12.3
3 mitochondrial dna depletion syndrome 7 12.2
4 newborn respiratory distress syndrome 11.8
5 congenital hypothyroidism 11.8
6 respiratory distress syndrome in premature infants 11.6
7 respiratory distress syndrome, infant 11.6
8 glutaric acidemia i 11.4
9 kernicterus 11.4
10 episodic kinesigenic dyskinesia 1 11.4
11 infantile cerebellar-retinal degeneration 11.4
12 basal ganglia calcification, idiopathic, 1 11.1
13 hyperphenylalaninemia, bh4-deficient, a 11.1
14 tardive dyskinesia 11.1
15 megalencephalic leukoencephalopathy with subcortical cysts 1 11.1
16 aromatic l-amino acid decarboxylase deficiency 11.1
17 leukoencephalopathy, cystic, without megalencephaly 11.1
18 neurodevelopmental disorder with involuntary movements 11.1
19 familial paroxysmal nonkinesigenic dyskinesia 11.1
20 free sialic acid storage disorders 11.1
21 hypothyroidism 10.5
22 chorea, childhood-onset, with psychomotor retardation 10.4
23 choreatic disease 10.4
24 chorea, benign hereditary 10.4
25 encephalopathy 10.3
26 nkx2-1-related disorders 10.3
27 hypotonia 10.3
28 spasticity 10.3
29 lung disease 10.2
30 hyperuricemia 10.2
31 anoxia 10.2
32 tremor 10.2
33 hypothyroidism, congenital, nongoitrous, 2 10.2
34 respiratory failure 10.2
35 cerebral palsy 10.2
36 interstitial lung disease 10.2
37 paroxysmal nonkinesigenic dyskinesia 1 10.1
38 syringomyelia, noncommunicating isolated 10.1
39 torticollis 10.1
40 graves disease 1 10.1
41 lesch-nyhan syndrome 10.1
42 ataxia and polyneuropathy, adult-onset 10.1
43 striatal degeneration, autosomal dominant 2 10.1
44 phenytoin toxicity 10.1
45 hemiplegia 10.1
46 neonatal jaundice 10.1
47 reflex epilepsy 10.1
48 syringomyelia 10.1
49 peripheral nervous system disease 10.1
50 neuropathy 10.1

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...

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

58 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
2 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
3 neonatal respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002643
4 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
5 choreoathetosis 58 31 frequent (33%) Frequent (79-30%) HP:0001266
6 congenital hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0000851
7 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
8 sleep disturbance 58 31 occasional (7.5%) Very rare (<4-1%) HP:0002360
9 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
10 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
11 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
12 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
13 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
14 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
15 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
16 intention tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002080
17 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
18 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
19 apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002186
20 abnormal cardiac septum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001671
21 asthma 58 31 occasional (7.5%) Very rare (<4-1%) HP:0002099
22 recurrent pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006532
23 clumsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002312
24 interstitial pulmonary abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0006530
25 increased thyroid-stimulating hormone level 58 31 occasional (7.5%) Occasional (29-5%) HP:0002925
26 compensated hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0008223
27 thyroid hemiagenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011780
28 agenesis of corpus callosum 58 31 very rare (1%) Very rare (<4-1%) HP:0001274
29 abnormal facial shape 58 31 very rare (1%) Very rare (<4-1%) HP:0001999
30 short stature 58 31 very rare (1%) Very rare (<4-1%) HP:0004322
31 microcephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000252
32 pulmonary fibrosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002206
33 hyperactivity 58 31 very rare (1%) Very rare (<4-1%) HP:0000752
34 webbed neck 58 31 very rare (1%) Very rare (<4-1%) HP:0000465
35 falls 58 31 very rare (1%) Very rare (<4-1%) HP:0002527
36 hypoparathyroidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000829
37 hypospadias 58 31 very rare (1%) Very rare (<4-1%) HP:0000047
38 vesicoureteral reflux 58 31 very rare (1%) Very rare (<4-1%) HP:0000076
39 obsessive-compulsive behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0000722
40 patent foramen ovale 58 31 very rare (1%) Very rare (<4-1%) HP:0001655
41 respiratory failure 58 31 very rare (1%) Very rare (<4-1%) HP:0002878
42 schizophrenia 58 31 very rare (1%) Very rare (<4-1%) HP:0100753
43 short attention span 58 31 very rare (1%) Very rare (<4-1%) HP:0000736
44 hypodontia 58 31 very rare (1%) Very rare (<4-1%) HP:0000668
45 megacystis 58 31 very rare (1%) Very rare (<4-1%) HP:0000021
46 unexplained fevers 58 31 very rare (1%) Very rare (<4-1%) HP:0001955
47 abnormality of the sella turcica 58 31 very rare (1%) Very rare (<4-1%) HP:0002679
48 abnormal eating behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0100738
49 cavum septum pellucidum 58 31 very rare (1%) Very rare (<4-1%) HP:0002389
50 abnormal drinking behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0030082

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
ataxia
dysarthria
global developmental delay
dystonia
choreoathetosis
more
Endocrine Features:
hypothyroidism, congenital
hypoplasia of the thyroid gland in some patients

Cardiovascular Heart:
congenital septal defects (in some patients)

Respiratory:
recurrent respiratory infections
respiratory distress, neonatal
asthma (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

Metabolic Features:
unexplained fever (in some patients)

Clinical features from OMIM:

610978

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...

Drugs for Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 255)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
2
Racepinephrine Approved Phase 4 329-65-7 838
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
5
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
6
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
7
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
8
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
9
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
10
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
11
Remifentanil Approved Phase 4 132875-61-7 60815
12 Poractant alfa Approved Phase 4 129069-19-8
13 Beractant Approved Phase 4 108778-82-1
14
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
15
Budesonide Approved Phase 4 51333-22-3 63006 5281004
16 Epinephryl borate Phase 4
17 HIV Protease Inhibitors Phase 4
18
protease inhibitors Phase 4
19 BB 1101 Phase 4
20 Anesthetics, Inhalation Phase 4
21 Neuromuscular Nondepolarizing Agents Phase 4
22 carnitine Phase 4
23 Anesthetics, Dissociative Phase 4
24
Glycopyrrolate Phase 4 596-51-0 3494
25 Excitatory Amino Acid Antagonists Phase 4
26 Excitatory Amino Acids Phase 4
27 Hypnotics and Sedatives Phase 4
28 Adrenergic Agents Phase 4
29 Anti-Anxiety Agents Phase 4
30 Tranquilizing Agents Phase 4
31 GABA Agents Phase 4
32 Psychotropic Drugs Phase 4
33 GABA Modulators Phase 4
34 Adrenergic Agonists Phase 4
35 Adrenergic alpha-2 Receptor Agonists Phase 4
36 Central Nervous System Depressants Phase 4
37 Narcotics Phase 4
38 Analgesics, Opioid Phase 4
39 Respiratory System Agents Phase 4
40 Pulmonary Surfactants Phase 4
41 Anti-Asthmatic Agents Phase 4
42 Hormone Antagonists Phase 4
43 Betamethasone benzoate Phase 4
44 Anti-Inflammatory Agents Phase 4
45 Betamethasone sodium phosphate Phase 4
46 Betamethasone Valerate Phase 4 2152-44-5
47 Betamethasone-17,21-dipropionate Phase 4
48 glucocorticoids Phase 4
49 Hormones Phase 4
50 Autonomic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 673)
# Name Status NCT ID Phase Drugs
1 Assessment of the Cerebral Tissue Oxygenation and the Bioelectrical Brain Activity of Preterm Newborns During Administration of Two Different Surfactant Unknown status NCT01941524 Phase 4 Poractant alfa instillation;Beractant instillation
2 Effect of Treatment With Stress-Doses Glucocorticoid on Mortality in Patients With ARDS and Relative Adrenal Insufficiency Unknown status NCT00773058 Phase 4 hydrocortisone;placebo
3 Efficacy Evaluation of Surfactant Administration for Respiratory Distress Syndrome Treatment Via Laryngeal Mask Airway. A Randomized Controlled Trial Unknown status NCT01173237 Phase 4
4 Comparative Trial of Two Strategies of RDS Treatment in Newborns With Birth Weight > 1500 Grams Unknown status NCT00277030 Phase 4 Surfactant
5 Propofol and Remifentanil Versus Midazolam and Remifentanil as Premedication Allowing Very Early Extubation After Surfactant Treatment in Preterm Neonates With Respiratory Distress Syndrome Unknown status NCT00797160 Phase 4 propofol
6 Early Bubble CPAP (EBCPAP) in Very Low Birth Weight Infants (VLBWI) Unknown status NCT00368680 Phase 4
7 Effects of NMBA on the Alteration of Transpulmonary Pressures at the Early Phase of ARDS Unknown status NCT01573715 Phase 4 NIMBEX;NIMBEX
8 THE EFFECT OF SUSTAINED LUNG INFLATION MANEUVER APPLIED THROUGH NASAL PRONG ON EARLY AND LATE RESPIRATORY MORBIDITIES IN PRETERM INFANTS Unknown status NCT02887924 Phase 4
9 Prevention of Chronic Lung Disease (CLD) in Preterm Infants -A New Therapeutic Regimen Unknown status NCT00883532 Phase 4 budesonide;surfactant and air (placebo)
10 Impact of Fluid Resuscitation Therapy on Pulmonary Edema as Measured by Alveolar Fluid Clearance in Patients With Acute Respiratory Distress Syndrome (ARDS) Unknown status NCT01763853 Phase 4 4% albumin
11 The Effect of Maternal Antenatal Steroid Administration on the Blood Flow Through the Pulmonary Artery in the Term Fetus; a Randomized Control Double Blinded Study Unknown status NCT02978976 Phase 4 Betamethasone;saline
12 Comparison of Effectiveness of Nasal CPAP and Nasal IMV in Early Rescue Surfactant Treatment in Preterm Infants Completed NCT01741129 Phase 4
13 An International, Open, Randomized, Controlled Study to Evaluate the Efficacy of Combining Prophylactic Curosurf® With Early Nasal CPAP Versus Early Nasal CPAP Alone in Very Preterm Infants at Risk of Respiratory Distress Syndrome Completed NCT00501982 Phase 4 Poractant alfa (Curosurf®)
14 Comparative Study of the Use of Remifentanil Versus Morphine for Sedation and Analgesia of Premature Neonates During Mechanical Ventilation in the Treatment of Respiratory Distress Syndrome (RDS) Completed NCT00391105 Phase 4 Remifentanil
15 Effects of Bolus Surfactant Therapy on Serial Peripheral Perfusion Index and Tissue Carbon Monoxide Measurements in Preterm Infants With Severe Respiratory Distress Syndrome Completed NCT01923844 Phase 4 exogenous surfactant
16 Premedication for Non-Emergency Endotracheal Intubation In the NICU Completed NCT01749501 Phase 4 Rocuronium
17 Effect of Early 48-hour Sevoflurane Inhalation on Gas Exchange and Inflammation in Patients Presenting With Acute Respiratory Distress Syndrome (ARDS) : a Monocentric, Prospective, Randomized Study. Completed NCT02166853 Phase 4 sevoflurane;midazolam
18 Corticosteroid Mediates Acute Respiratory Distress Syndrome Via NLRP3 Inflammasome Signaling Pathway Completed NCT02819453 Phase 4 Methylprednisolone
19 Synchronized Intermittent Mandatory Ventilation (SIMV) Versus Nasal Intermittent Positive Pressure Ventilation (NIPPV) In Preterm Infants With Respiratory Distress Completed NCT00486850 Phase 4
20 Rescue Surfactant for Respiratory Distress Syndrome (RDS) in Newborns: Comparing Efficacy of Delivery Via Laryngeal Mask Airway to Delivery by Endotracheal Intubation Completed NCT01042600 Phase 4
21 The Study of Pharmacokinetics and Pharmacodynamics of a Loading Dose Cisatracurium in Critically Ill Patients Completed NCT03337373 Phase 4 cisatracurium
22 Effects Of A Recruitment Maneuver On Plasma Levels of sRAGE, The Soluble Form of The Receptor For Advanced Glycation End Products, In Patients With Diffuse Acute Respiratory Distress Syndrome (ARDS) Completed NCT01600651 Phase 4
23 A Comparative, Randomised Controlled Trial for Evaluating the Efficacy of Dexamethasone in the Treatment of Patients With Acute Respiratory Distress Syndrome Completed NCT01731795 Phase 4 Dexamethasone
24 Effects of Adding L‑Carnitine With Dexamethasone on Respiratory Distress Syndrome Development in Preterm Infants Recruiting NCT03630367 Phase 4 Dexamethasone;L-Carnitine 1G/5mL Injection
25 Effect of Inhalation Sedation With Sevoflurane Compared With Propofol on the Sepsis-related Acute Respiratory Distress Syndrome (ARDS) Course. Recruiting NCT04014218 Phase 4 Inhalation Sedation;Intravenous Sedation
26 Efficacy of Adding Budesonide to Poractant Alfa to Prevent Bronchopulmonary Dysplasia in Preterm Infants With Respiratory Distress Syndrome. Recruiting NCT03521063 Phase 4 Budesonide;Poractant Alfa;Saline
27 Efficacy of Rescue Surfactant Delivery Via Endotracheal Intubation (INSURE Technique) Versus Laryngeal Mask Airway (LMA) for Respiratory Distress Syndrome (RDS) in Preterm Neonates Recruiting NCT02164734 Phase 4 remifentanil
28 Premedication for Less Invasive Surfactant Administration Recruiting NCT03735563 Phase 4 Ketamine;Fentanyl
29 Exogenous Surfactant in Very Preterm Neonates Presenting With Severe Respiratory Distress in Prevention of Bronchopulmonary Dysplasia Active, not recruiting NCT01039285 Phase 4 Curosurf
30 Sleep Intervention During Acute Lung Injury Active, not recruiting NCT01050699 Phase 4 Dexmedetomidine;Midazolam and Fentanyl
31 Comparison of Two Fraction Oxygen Inspired (FiO2) Thresholds for the Surfactant Administration in Preterm Infants With Respiratory Disease Syndrome: a Single-center Randomized Phase IV Clinical Trial Not yet recruiting NCT04199364 Phase 4 Poractant Alfa 80 mg/mL Intratracheal Suspension
32 Routine Administration of Surfactant/Budesonide to Prevent BPD in VLBW With RDS-A Double Blind Study Not yet recruiting NCT03275415 Phase 4 budesonide;Saline
33 Stress Assessment in Preterm Infants With Respiratory Distress Syndrome Treated or Not With an Analgesic Drug During the Traditional or the Less Invasive Method of Surfactant Therapy. Not yet recruiting NCT04073173 Phase 4 Analgesic, Opioid
34 Randomized Study Comparing the ASV to Conventional Ventilation for Intubated Patients During Inter-hospital Transfers. Controlled Randomized Monocentric Prospective Study Comparing ASV Versus Conventional Ventilation Modes Terminated NCT02348047 Phase 4
35 Phase 4 Study of Curosurf (Poractant) and Survanta (Beractant) Surfactant Treatment in Very Premature Infants With Respiratory Distress Syndrome. Terminated NCT00767039 Phase 4 Survanta (beractant);Curosurf (poractant)
36 Cytokine Change in Bronchoalveolar Lavage Fluid After Early Budesonide-Surfactant Treatment in Premature Infants Terminated NCT00146497 Phase 4 Budesonide-Surfactant
37 Randomized Trial on Efficacy and Safety of the Antenatal Rescue Course of Glucocorticoids in Threatened Premature Birth (ACG Trial) Terminated NCT00295464 Phase 4 Betamethasone sodium phos (drug)
38 Pre Hospital Evaluation of Video Laryngoscopy : a Comparative Study of Macintosh and GLIDESCOPE Ranger® Withdrawn NCT01374061 Phase 4
39 A Validation/Interventional Study on Stress Index in Predicting Mechanical Stress in ARDS Patients Unknown status NCT00465374 Phase 3
40 Intratracheal Vitamin A Administration With Surfactant for Newborn Respiratory Distress Syndrome Unknown status NCT01265589 Phase 3 surfactant;surfactant+vitamin A
41 Intranasal Midazolam Versus Intranasal Ketamine to Sedate Newborns for Intubation in Delivery Room. Unknown status NCT01517828 Phase 3 Sedation by ketamine;Sedation with Midazolam
42 Evaluating the Efficacy and Safety of an Innovative and Affordable Goat Lung Surfactant for the Treatment of Respiratory Distress Syndrome in Preterm Neonates: a Multi-site Randomized Clinical Trial Unknown status NCT02774044 Phase 2, Phase 3 Cadisurf;Survanta
43 Amniotic Fluid Optical Density Determination Between 28 and 36 6/7 Weeks of Pregnancy and Its Relationship With the Diagnosis of Neonatal Respiratory Distress Syndrome. Completed NCT02332304 Phase 3
44 A Randomized Trial of a Lung-Open Ventilation Strategy in Acute Lung Injury Completed NCT00182195 Phase 3
45 Efficacy and Safety of Exosurf Neonatal and Survanta for the Treatment of Respiratory Distress Syndrome Completed NCT01203358 Phase 2, Phase 3 Exosurf;Survanta
46 Trial of Late Surfactant to Prevent BPD: A Pilot Study in Ventilated Preterm Neonates Receiving Inhaled Nitric Oxide Completed NCT00569530 Phase 3 Infasurf (ONY Inc.);Sham
47 Comparison of Aerosol Delivery of Infasurf to Usual Care in Spontaneously Breathing RDS Patients Completed NCT03058666 Phase 3 Aerosolized Calfactant
48 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Antenatal Thyrotropin-Releasing Hormone in Pregnant Women With Threatened Premature Delivery Completed NCT00004778 Phase 3 betamethasone;dexamethasone;thyrotropin-releasing hormone
49 Follow up at School-age of Children Participating in the Nitric Oxide Ventilatory Approach (NOVA) Study Completed NCT00152542 Phase 3 Inhaled nitric oxide;Placebo
50 Protective Ventilation With Carbon Dioxide (CO2) -Removal Technique in Patients With Adult Respiratory Distress Syndrome (ARDS) Completed NCT00465309 Phase 3

Search 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:

40
Lung, Thyroid, Brain, Bone, Heart, Testes, Kidney

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

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

(show all 34)
# Title Authors PMID Year
1
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. 61 56 6
19336474 2009
2
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. 56 6
15955952 2005
3
Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. 56 6
15289765 2004
4
Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. 56 6
11854318 2002
5
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. 56 6
11854319 2002
6
NKX2-1-Related Disorders 61 6
24555207 2014
7
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. 56
24714694 2014
8
Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. 56
10931427 2000
9
Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. 56
9565498 1998
10
Haploinsufficiency of NKX2-1 in Brain-Lung-Thyroid Syndrome with Additional Multiple Pituitary Dysfunction. 61
31707387 2019
11
Chiari Malformation Type I in a Patient with a Novel NKX2-1 Mutation. 61
31649781 2019
12
High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2-1 mutations). 61
30927038 2019
13
A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency. 61
31890031 2019
14
Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by NKX2-1 Mutations. 61
30746413 2019
15
Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP? 61
29621620 2018
16
A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects Only in the Presence of PAX8. 61
29882472 2018
17
The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency. 61
29477862 2018
18
TAZ/WWTR1 Mediates the Pulmonary Effects of NKX2-1 Mutations in Brain-Lung-Thyroid Syndrome. 61
29294041 2018
19
Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome. 61
28954305 2018
20
NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement. 61
30186310 2018
21
Heterogeneity of lung disease associated with NK2 homeobox 1 mutations. 61
28732825 2017
22
A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1. 61
28286255 2017
23
The Movement Disorder of Brain-Lung-Thyroid Syndrome Can be Responsive to Methylphenidate. 61
29109906 2017
24
Benign hereditary chorea related to NKX2-1 with ataxia and dystonia. 61
27066577 2016
25
A Video Report of Brain-Lung-Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene. 61
28503612 2016
26
Benign Hereditary Chorea: An Update. 61
26196025 2015
27
Novel NKX2-1 Frameshift Mutations in Patients with Atypical Phenotypes of the Brain-Lung-Thyroid Syndrome. 61
25759798 2014
28
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum. 61
24171694 2014
29
NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients. 61
24129101 2014
30
Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome. 61
22166853 2012
31
Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome. 61
22488412 2012
32
Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect. 61
21867529 2011
33
Benign hereditary chorea: an update. 61
21292530 2011
34
NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome". 61
20020530 2010

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

ClinVar genetic disease variations for Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction:

6 (show all 48) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NKX2-1 NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter)SNV Pathogenic 217884 rs863225300 14:36987165-36987165 14:36517960-36517960
2 NKX2-1 NM_001079668.3(NKX2-1):c.703G>T (p.Val235Phe)SNV Pathogenic 8976 rs137852692 14:36986986-36986986 14:36517781-36517781
3 NKX2-1 NM_001079668.3(NKX2-1):c.672_673dup (p.Ala225fs)duplication Pathogenic 8977 rs587776707 14:36987015-36987016 14:36517810-36517811
4 NKX2-1 NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter)SNV Pathogenic 8979 rs137852693 14:36987076-36987076 14:36517871-36517871
5 NKX2-1 NM_001079668.3(NKX2-1):c.344dup (p.Tyr116fs)duplication Pathogenic 8981 rs587776709 14:36988308-36988309 14:36519103-36519104
6 NKX2-1 NM_001079668.3(NKX2-1):c.464-2A>GSNV Pathogenic 8982 rs587776708 14:36987227-36987227 14:36518022-36518022
7 NKX2-1 NM_001079668.3(NKX2-1):c.645C>G (p.Tyr215Ter)SNV Pathogenic 561065 rs1566615444 14:36987044-36987044 14:36517839-36517839
8 NKX2-1 NM_001079668.3(NKX2-1):c.(?_-1)_*(1206_?)deldeletion Pathogenic 635557 14:36985277-36989335 14:36516072-36520130
9 NKX2-1 NM_001079668.3(NKX2-1):c.267dup (p.His90fs)duplication Pathogenic 803017 14:36988385-36988386 14:36519180-36519181
10 NKX2-1 NM_001079668.3(NKX2-1):c.635A>C (p.Gln212Pro)SNV Likely pathogenic 436016 rs1555349218 14:36987054-36987054 14:36517849-36517849
11 NKX2-1 NM_001079668.3(NKX2-1):c.714G>A (p.Trp238Ter)SNV Likely pathogenic 803016 14:36986975-36986975 14:36517770-36517770
12 NKX2-1 NM_001079668.3(NKX2-1):c.338_342del (p.Val113fs)deletion Likely pathogenic 638002 14:36988311-36988315 14:36519106-36519110
13 NKX2-1 NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg)SNV Likely pathogenic 689773 14:36986817-36986817 14:36517612-36517612
14 NKX2-1 NM_001079668.3(NKX2-1):c.935dup (p.Gln313fs)duplication Likely pathogenic 635563 14:36986753-36986754 14:36517548-36517549
15 NKX2-1 NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)SNV Conflicting interpretations of pathogenicity 487553 rs537209983 14:36986583-36986583 14:36517378-36517378
16 NKX2-1 NM_001079668.3(NKX2-1):c.796_804GGCGGGGGC[3] (p.Gly269_Gly271dup)short repeat Conflicting interpretations of pathogenicity 695342 14:36986875-36986876 14:36517670-36517671
17 NKX2-1 NM_001079668.3(NKX2-1):c.961C>A (p.Gln321Lys)SNV Uncertain significance 803015 14:36986728-36986728 14:36517523-36517523
18 NKX2-1 NM_001079668.3(NKX2-1):c.1143_1145CTC[1] (p.Ser383del)short repeat Uncertain significance 689466 rs903233524 14:36986541-36986543 14:36517336-36517338
19 NKX2-1 NM_001079668.3(NKX2-1):c.657G>A (p.Pro219=)SNV Uncertain significance 313143 rs778886269 14:36987032-36987032 14:36517827-36517827
20 NKX2-1 NM_001079668.3(NKX2-1):c.*820A>GSNV Uncertain significance 313122 rs886050477 14:36985663-36985663 14:36516458-36516458
21 NKX2-1 NM_001079668.3(NKX2-1):c.*460deldeletion Uncertain significance 313128 rs5807883 14:36986023-36986023 14:36516818-36516818
22 NKX2-1 NM_001079668.3(NKX2-1):c.698C>T (p.Thr233Met)SNV Uncertain significance 635555 14:36986991-36986991 14:36517786-36517786
23 NKX2-1 NM_001079668.3(NKX2-1):c.925G>T (p.Ala309Ser)SNV Uncertain significance 313141 rs886050482 14:36986764-36986764 14:36517559-36517559
24 NKX2-1 NM_001079668.3(NKX2-1):c.201G>A (p.Pro67=)SNV Uncertain significance 313146 rs747491554 14:36988452-36988452 14:36519247-36519247
25 NKX2-1 NM_001079668.3(NKX2-1):c.*185_*186dupduplication Uncertain significance 313136 rs1555349072 14:36986296-36986297 14:36517091-36517092
26 NKX2-1 NM_001079668.3(NKX2-1):c.*460dupduplication Uncertain significance 313129 rs5807883 14:36986022-36986023 14:36516817-36516818
27 NKX2-1 NM_001079668.3(NKX2-1):c.*210dupduplication Uncertain significance 313132 rs886050480 14:36986272-36986273 14:36517067-36517068
28 NKX2-1 NM_001079668.3(NKX2-1):c.*186dupduplication Uncertain significance 313135 rs1555349072 14:36986296-36986297 14:36517091-36517092
29 NKX2-1 NM_001079668.3(NKX2-1):c.*544G>ASNV Uncertain significance 313125 rs886050478 14:36985939-36985939 14:36516734-36516734
30 NKX2-1 NM_001079668.3(NKX2-1):c.*459_*460dupduplication Uncertain significance 313127 rs5807883 14:36986022-36986023 14:36516817-36516818
31 NKX2-1 NM_001079668.3(NKX2-1):c.1200C>T (p.Thr400=)SNV Uncertain significance 313138 rs886050481 14:36986489-36986489 14:36517284-36517284
32 NKX2-1 NM_001079668.3(NKX2-1):c.816C>T (p.Thr272=)SNV Uncertain significance 313142 rs886050483 14:36986873-36986873 14:36517668-36517668
33 NKX2-1 NM_001079668.3(NKX2-1):c.435C>G (p.Gly145=)SNV Uncertain significance 313145 rs886050484 14:36988218-36988218 14:36519013-36519013
34 NKX2-1 NM_001079668.3(NKX2-1):c.-71C>ASNV Uncertain significance 313148 rs886050485 14:36989405-36989405 14:36520200-36520200
35 NKX2-1 NM_001079668.3(NKX2-1):c.*470A>GSNV Uncertain significance 313126 rs886050479 14:36986013-36986013 14:36516808-36516808
36 NKX2-1 NM_001079668.3(NKX2-1):c.*436A>CSNV Likely benign 313130 rs79849967 14:36986047-36986047 14:36516842-36516842
37 NKX2-1 NM_001079668.3(NKX2-1):c.535G>T (p.Val179Leu)SNV Likely benign 313144 rs575848748 14:36987154-36987154 14:36517949-36517949
38 NKX2-1 NM_001079668.3(NKX2-1):c.*579C>GSNV Likely benign 313124 rs566916288 14:36985904-36985904 14:36516699-36516699
39 NKX2-1 NM_001079668.3(NKX2-1):c.*14C>TSNV Likely benign 313137 rs755542970 14:36986469-36986469 14:36517264-36517264
40 NKX2-1 NM_001079668.3(NKX2-1):c.*209T>ASNV Likely benign 313134 rs572546897 14:36986274-36986274 14:36517069-36517069
41 NKX2-1 NM_001079668.3(NKX2-1):c.*581deldeletion Likely benign 313123 rs534281105 14:36985902-36985902 14:36516697-36516697
42 NKX2-1 NM_001079668.3(NKX2-1):c.29G>A (p.Arg10Gln)SNV Likely benign 313147 rs201979429 14:36989306-36989306 14:36520101-36520101
43 NKX2-1 NM_001079668.3(NKX2-1):c.78-151A>GSNV Likely benign 803018 14:36988726-36988726 14:36519521-36519521
44 NKX2-1 NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser)SNV Benign/Likely benign 313140 rs147542347 14:36986596-36986596 14:36517391-36517391
45 NKX2-1 NM_001079668.3(NKX2-1):c.-85G>TSNV Benign 313149 rs2076751 14:36989419-36989419 14:36520214-36520214
46 NKX2-1 NM_001079668.3(NKX2-1):c.464-2A>TSNV Benign 8978 rs587776708 14:36987227-36987227 14:36518022-36518022
47 NKX2-1 NM_001079668.3(NKX2-1):c.*210T>ASNV Benign 313133 rs10139625 14:36986273-36986273 14:36517068-36517068
48 NKX2-1 NM_001079668.3(NKX2-1):c.*292dupduplication Benign 313131 rs140427692 14:36986190-36986191 14:36516985-36516986

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

73
# Symbol AA change Variation ID SNP ID
1 NKX2-1 p.Val205Phe VAR_034906 rs137852692
2 NKX2-1 p.Thr203Arg VAR_073040

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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