CAHTP
MCID: CHR661
MIFTS: 49

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 57 20 72
Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress 57 43 72 29 13 6 39 70
Brain-Lung-Thyroid Syndrome 57 20 43 58 72 36
Cahtp 57 20 43 72
Choreoathetosis-Hypothyroidism-Neonatal Respiratory Distress Syndrome 20 58
Blt Syndrome 20 43
Chreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 43
Choreoathetosis-Hypothyroidism-Neonatal Respiratory Distress 20
Respiratory Distress Syndrome, Newborn 44
Brain-Thyroid-Lung Syndrome 43
Athetosis 44

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
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...

MedlinePlus Genetics : 43 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 congenital hypothyroidism and hypothyroidism, 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 Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include lung, thyroid and brain, and related phenotypes are ataxia and neonatal respiratory distress

GARD : 20 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® : 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) (Updated 20-May-2021)

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 : 72 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 117)
# Related Disease Score Top Affiliating Genes
1 congenital hypothyroidism 31.4 SFTA3 NKX2-1
2 hypothyroidism 30.3 SFTA3 NKX2-1
3 nkx2-1-related disorders 30.0 SFTA3 NKX2-1
4 chorea, benign hereditary 30.0 SFTA3 NKX2-1
5 athetosis 11.6
6 mitochondrial dna depletion syndrome 7 11.6
7 respiratory distress syndrome in premature infants 11.4
8 newborn respiratory distress syndrome 11.4
9 respiratory distress syndrome, infant 11.4
10 intellectual disability - athetosis - microphthalmia 11.2
11 episodic kinesigenic dyskinesia 1 11.1
12 infantile cerebellar-retinal degeneration 11.1
13 paroxysmal nonkinesigenic dyskinesia 1 10.9
14 glutaric acidemia i 10.9
15 kernicterus 10.9
16 basal ganglia calcification, idiopathic, 1 10.8
17 hyperphenylalaninemia, bh4-deficient, a 10.8
18 tardive dyskinesia 10.8
19 megalencephalic leukoencephalopathy with subcortical cysts 1 10.8
20 aromatic l-amino acid decarboxylase deficiency 10.8
21 leukoencephalopathy, cystic, without megalencephaly 10.8
22 neurodevelopmental disorder with involuntary movements 10.8
23 basal ganglia calcification 10.8
24 familial paroxysmal nonkinesigenic dyskinesia 10.8
25 free sialic acid storage disorders 10.8
26 chorea, childhood-onset, with psychomotor retardation 10.4
27 choreatic disease 10.4
28 hypotonia 10.3
29 parkinsonism 10.2
30 lung disease 10.2
31 spasticity 10.2
32 encephalopathy 10.1
33 hypothyroidism, congenital, nongoitrous, 2 10.1
34 immune deficiency disease 10.1
35 respiratory failure 10.1
36 cerebral palsy 10.1
37 interstitial lung disease 10.1
38 ataxia and polyneuropathy, adult-onset 10.1
39 tremor 10.1
40 hyperuricemia 10.0
41 anoxia 10.0
42 hypertonia 10.0
43 developmental dysplasia of the hip 1 10.0
44 argininosuccinic aciduria 10.0
45 lung cancer 10.0
46 cerebral palsy, ataxic, autosomal recessive 10.0
47 chromosome 14q11-q22 deletion syndrome 10.0
48 pulmonary hypertension 10.0
49 tooth agenesis 10.0
50 dyskinetic cerebral palsy 10.0

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 neonatal respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002643
3 choreoathetosis 58 31 frequent (33%) Frequent (79-30%) HP:0001266
4 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
5 congenital hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0000851
6 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
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 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
12 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
13 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
14 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
15 abnormal cardiac septum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001671
16 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
17 asthma 58 31 occasional (7.5%) Very rare (<4-1%) HP:0002099
18 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
19 recurrent pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006532
20 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
21 clumsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002312
22 thyroid dysgenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008188
23 intention tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002080
24 apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002186
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 microcephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000252
31 short stature 58 31 very rare (1%) Very rare (<4-1%) HP:0004322
32 webbed neck 58 31 very rare (1%) Very rare (<4-1%) HP:0000465
33 pulmonary fibrosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002206
34 obsessive-compulsive behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0000722
35 vesicoureteral reflux 58 31 very rare (1%) Very rare (<4-1%) HP:0000076
36 hypospadias 58 31 very rare (1%) Very rare (<4-1%) HP:0000047
37 hypoparathyroidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000829
38 schizophrenia 58 31 very rare (1%) Very rare (<4-1%) HP:0100753
39 hypodontia 58 31 very rare (1%) Very rare (<4-1%) HP:0000668
40 respiratory failure 58 31 very rare (1%) Very rare (<4-1%) HP:0002878
41 hyperactivity 58 31 very rare (1%) Very rare (<4-1%) HP:0000752
42 short attention span 58 31 very rare (1%) Very rare (<4-1%) HP:0000736
43 unexplained fevers 58 31 very rare (1%) Very rare (<4-1%) HP:0001955
44 megacystis 58 31 very rare (1%) Very rare (<4-1%) HP:0000021
45 patent foramen ovale 58 31 very rare (1%) Very rare (<4-1%) HP:0001655
46 falls 58 31 very rare (1%) Very rare (<4-1%) HP:0002527
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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 300)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
2
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
3
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
4
Racepinephrine Approved Phase 4 329-65-7 838
5
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
6
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
7
Coal tar Approved Phase 4 8007-45-2
8
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
9
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
10
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
11
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
12
Ibuprofen Approved Phase 4 15687-27-1 3672
13
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
14
Remifentanil Approved Phase 4 132875-61-7 60815
15
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
16 Poractant alfa Approved Phase 4 129069-19-8
17
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
18
Beractant Approved Phase 4 108778-82-1
19
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
20
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
21
Budesonide Approved Phase 4 51333-22-3 63006 5281004
22 Hydrocortisone hemisuccinate Phase 4
23 Hydrocortisone 17-butyrate 21-propionate Phase 4
24 Cholinergic Antagonists Phase 4
25 Cholinergic Agents Phase 4
26 Epinephryl borate Phase 4
27 Psychotropic Drugs Phase 4
28 Anti-Anxiety Agents Phase 4
29 GABA Modulators Phase 4
30 Neuromuscular Nondepolarizing Agents Phase 4
31 Antirheumatic Agents Phase 4
32 Analgesics, Non-Narcotic Phase 4
33 Anesthetics, General Phase 4
34 Anesthetics Phase 4
35 Excitatory Amino Acid Antagonists Phase 4
36 Anesthetics, Intravenous Phase 4
37 Anesthetics, Dissociative Phase 4
38 Antihypertensive Agents Phase 4
39 Angiotensin II Type 1 Receptor Blockers Phase 4
40 Angiotensin Receptor Antagonists Phase 4
41 Anesthetics, Inhalation Phase 4
42 Cyclooxygenase Inhibitors Phase 4
43 Anti-Inflammatory Agents, Non-Steroidal Phase 4
44
Glycopyrrolate Phase 4 596-51-0 3494
45 Tin Fluorides Phase 4
46 Narcotics Phase 4
47 Analgesics, Opioid Phase 4
48 Analgesics Phase 4
49 Dexamethasone 21-phosphate Phase 4
50 Diuretics, Potassium Sparing Phase 4

Interventional clinical trials:

(show top 50) (show all 921)
# Name Status NCT ID Phase Drugs
1 Efficacy Evaluation of Surfactant Administration for Respiratory Distress Syndrome Treatment Via Laryngeal Mask Airway. A Randomized Controlled Trial Unknown status NCT01173237 Phase 4
2 Efficacy of Rescue Surfactant Delivery Via Endotracheal Intubation (INSURE Technique) Versus Laryngeal Mask Airway (LMA) for Respiratory Distress Syndrome (RDS) in Preterm Neonates Unknown status NCT02164734 Phase 4 remifentanil
3 Effects of NMBA on the Alteration of Transpulmonary Pressures at the Early Phase of ARDS Unknown status NCT01573715 Phase 4 NIMBEX;NIMBEX
4 Prevention of Chronic Lung Disease (CLD) in Preterm Infants -A New Therapeutic Regimen Unknown status NCT00883532 Phase 4 budesonide;surfactant and air (placebo)
5 Effect of Treatment With Stress-Doses Glucocorticoid on Mortality in Patients With ARDS and Relative Adrenal Insufficiency Unknown status NCT00773058 Phase 4 hydrocortisone;placebo
6 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
7 Sleep Intervention During Acute Lung Injury Unknown status NCT01050699 Phase 4 Dexmedetomidine;Midazolam and Fentanyl
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 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
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 Early Bubble CPAP (EBCPAP) in Very Low Birth Weight Infants (VLBWI) Unknown status NCT00368680 Phase 4
12 Comparative Trial of Two Strategies of RDS Treatment in Newborns With Birth Weight > 1500 Grams Unknown status NCT00277030 Phase 4 Surfactant
13 Routine Administration of Surfactant/Budesonide to Prevent BPD in VLBW With RDS-A Double Blind Study Unknown status NCT03275415 Phase 4 budesonide;Saline
14 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
15 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®)
16 Synchronized Intermittent Mandatory Ventilation (SIMV) Versus Nasal Intermittent Positive Pressure Ventilation (NIPPV) In Preterm Infants With Respiratory Distress Completed NCT00486850 Phase 4
17 Assessment of the Cerebral Tissue Oxygenation and the Bioelectrical Brain Activity of Preterm Newborns During Administration of Two Different Surfactant Completed NCT01941524 Phase 4 Poractant alfa instillation;Beractant instillation
18 Comparison of Effectiveness of Nasal CPAP and Nasal IMV in Early Rescue Surfactant Treatment in Preterm Infants Completed NCT01741129 Phase 4
19 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
20 Corticosteroid Mediates Acute Respiratory Distress Syndrome Via NLRP3 Inflammasome Signaling Pathway Completed NCT02819453 Phase 4 Methylprednisolone
21 Premedication for Non-Emergency Endotracheal Intubation In the NICU Completed NCT01749501 Phase 4 Rocuronium
22 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
23 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
24 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
25 The Study of Pharmacokinetics and Pharmacodynamics of a Loading Dose Cisatracurium in Critically Ill Patients Completed NCT03337373 Phase 4 cisatracurium
26 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
27 Premedication for Less Invasive Surfactant Administration Recruiting NCT03735563 Phase 4 Ketamine;Fentanyl
28 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
29 Sedation With Sevoflurane Versus Propofol in Patients With Acute Respiratory Distress Syndrome Caused by COVID19 Infection Recruiting NCT04359862 Phase 4 Sevoflurane;Propofol
30 PRAETORIAN-COVID: A Double-blind, Placebo-controlled Randomized Clinical Trial With Valsartan for PRevention of Acute rEspiraTORy dIstress Syndrome in hospitAlized patieNts With SARS-COV-2 (COVID-19) Infection Disease Recruiting NCT04335786 Phase 4 Valsartan (Diovan);Placebo oral tablet
31 Lipid Ibuprofen Versus Standard of Care for Acute Hypoxemic Respiratory Failure Due to COVID-19: a Multicentre, Randomised, Controlled Trial Recruiting NCT04334629 Phase 4 Ibuprofen
32 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
33 Exogenous Surfactant in Very Preterm Neonates Presenting With Severe Respiratory Distress in Prevention of Bronchopulmonary Dysplasia Active, not recruiting NCT01039285 Phase 4 Curosurf
34 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
35 Role of Prophylactic Dexamethasone Administration Before Elective Cesarean Section at Term in Reducing the Incidence of Neonatal Respiratory Distress Syndrome (A Randomized Controlled Trial) Not yet recruiting NCT04816097 Phase 4 Dexamethasone phosphate
36 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
37 The Effect of Spironolactone on Oxygenation in Covid-19 ARDS Patients Not yet recruiting NCT04345887 Phase 4 Spironolactone 100mg;Placebo oral tablet
38 Effects of Adding L-Carnitine With Dexamethasone on Respiratory Distress Syndrome Development in Preterm Infants Suspended NCT03630367 Phase 4 Dexamethasone;L-Carnitine 1G/5mL Injection
39 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)
40 Efficacy of Dexamethasone Treatment for Patients With ARDS Caused by COVID-19 Terminated NCT04325061 Phase 4 Dexamethasone
41 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
42 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)
43 Cytokine Change in Bronchoalveolar Lavage Fluid After Early Budesonide-Surfactant Treatment in Premature Infants Terminated NCT00146497 Phase 4 Budesonide-Surfactant
44 Pre Hospital Evaluation of Video Laryngoscopy : a Comparative Study of Macintosh and GLIDESCOPE Ranger® Withdrawn NCT01374061 Phase 4
45 Intranasal Midazolam Versus Intranasal Ketamine to Sedate Newborns for Intubation in Delivery Room. Unknown status NCT01517828 Phase 3 Sedation by ketamine;Sedation with Midazolam
46 Liberal Oxygenation Versus Conservative Oxygenation in Patients With Acute Respiratory Distress Syndrome : Impact on Mortality (LOCO2 Study) Unknown status NCT02713451 Phase 3 Modulation of Inspired Fraction of Oxygen (FiO2)
47 Intratracheal Vitamin A Administration With Surfactant for Newborn Respiratory Distress Syndrome Unknown status NCT01265589 Phase 3 surfactant;surfactant+vitamin A
48 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
49 A Validation/Interventional Study on Stress Index in Predicting Mechanical Stress in ARDS Patients Unknown status NCT00465374 Phase 3
50 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

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 Marrow, Bone, Neutrophil, Heart

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

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

(show all 42)
# Title Authors PMID Year
1
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. 57 6 61
19336474 2009
2
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. 6 57
24714694 2014
3
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. 57 6
15955952 2005
4
Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. 57 6
15289765 2004
5
Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. 6 57
11854318 2002
6
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. 57 6
11854319 2002
7
NKX2-1-Related Disorders 6 61
24555207 2014
8
Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. 6
23430038 2013
9
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. 6
18788921 2008
10
Physical and functional interactions between homeodomain NKX2.1 and winged helix/forkhead FOXA1 in lung epithelial cells. 6
17220277 2007
11
Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. 57
10931427 2000
12
Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. 57
9565498 1998
13
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency. 61
33789861 2021
14
NKX2.1 run-on mutation associated to familial brain-lung-thyroid syndrome. 61
33778944 2021
15
[Brain-lung-thyroid syndrome report of two cases]. 61
32987468 2020
16
Levodopa-Responsive Chorea: A Review. 61
32189864 2020
17
Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report. 61
32195974 2020
18
Chiari Malformation Type I in a Patient with a Novel NKX2-1 Mutation. 61
31649781 2019
19
High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2-1 mutations). 61
30927038 2019
20
Haploinsufficiency of NKX2-1 in Brain-Lung-Thyroid Syndrome with Additional Multiple Pituitary Dysfunction. 61
31707387 2019
21
Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by NKX2-1 Mutations. 61
30746413 2019
22
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
23
Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP? 61
29621620 2018
24
A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects Only in the Presence of PAX8. 61
29882472 2018
25
The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency. 61
29477862 2018
26
TAZ/WWTR1 Mediates the Pulmonary Effects of NKX2-1 Mutations in Brain-Lung-Thyroid Syndrome. 61
29294041 2018
27
Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome. 61
28954305 2018
28
NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement. 61
30186310 2018
29
Heterogeneity of lung disease associated with NK2 homeobox 1 mutations. 61
28732825 2017
30
A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1. 61
28286255 2017
31
The Movement Disorder of Brain-Lung-Thyroid Syndrome Can be Responsive to Methylphenidate. 61
29109906 2017
32
Benign hereditary chorea related to NKX2-1 with ataxia and dystonia. 61
27066577 2016
33
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
34
Benign Hereditary Chorea: An Update. 61
26196025 2015
35
Novel NKX2-1 Frameshift Mutations in Patients with Atypical Phenotypes of the Brain-Lung-Thyroid Syndrome. 61
25759798 2014
36
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum. 61
24171694 2014
37
NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients. 61
24129101 2014
38
Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome. 61
22166853 2012
39
Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome. 61
22488412 2012
40
Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect. 61
21867529 2011
41
Benign hereditary chorea: an update. 61
21292530 2011
42
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 top 50) (show all 58)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.703G>T (p.Val235Phe) SNV Pathogenic 8976 rs137852692 GRCh37: 14:36986986-36986986
GRCh38: 14:36517781-36517781
2 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.464-2A>G SNV Pathogenic 8982 rs587776708 GRCh37: 14:36987227-36987227
GRCh38: 14:36518022-36518022
3 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.645C>G (p.Tyr215Ter) SNV Pathogenic 561065 rs1566615444 GRCh37: 14:36987044-36987044
GRCh38: 14:36517839-36517839
4 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.672_673dup (p.Ala225fs) Duplication Pathogenic 8977 rs587776707 GRCh37: 14:36987015-36987016
GRCh38: 14:36517810-36517811
5 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.344dup (p.Tyr116fs) Duplication Pathogenic 8981 rs587776709 GRCh37: 14:36988308-36988309
GRCh38: 14:36519103-36519104
6 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.267dup (p.His90fs) Duplication Pathogenic 803017 rs1594407150 GRCh37: 14:36988385-36988386
GRCh38: 14:36519180-36519181
7 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter) SNV Pathogenic 8979 rs137852693 GRCh37: 14:36987076-36987076
GRCh38: 14:36517871-36517871
8 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter) SNV Pathogenic 217884 rs863225300 GRCh37: 14:36987165-36987165
GRCh38: 14:36517960-36517960
9 overlap with 3 genes NM_001079668.3(NKX2-1):c.(?_-1)_*(1206_?)del Deletion Pathogenic 635557 GRCh37: 14:36985277-36989335
GRCh38: 14:36516072-36520130
10 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.278_306del (p.Ala93fs) Deletion Pathogenic 932917 GRCh37: 14:36988347-36988375
GRCh38: 14:36519142-36519170
11 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu) SNV Pathogenic 985241 GRCh37: 14:36986994-36986994
GRCh38: 14:36517789-36517789
12 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.935dup (p.Gln313fs) Duplication Likely pathogenic 635563 rs1594403511 GRCh37: 14:36986753-36986754
GRCh38: 14:36517548-36517549
13 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.714G>A (p.Trp238Ter) SNV Likely pathogenic 803016 rs1594403990 GRCh37: 14:36986975-36986975
GRCh38: 14:36517770-36517770
14 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.635A>C (p.Gln212Pro) SNV Likely pathogenic 436016 rs1555349218 GRCh37: 14:36987054-36987054
GRCh38: 14:36517849-36517849
15 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.583C>T (p.Arg195Trp) SNV Likely pathogenic 992992 GRCh37: 14:36987106-36987106
GRCh38: 14:36517901-36517901
16 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.338_342del (p.Val113fs) Deletion Likely pathogenic 638002 rs1594406926 GRCh37: 14:36988311-36988315
GRCh38: 14:36519106-36519110
17 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg) SNV Likely pathogenic 689773 rs1057519223 GRCh37: 14:36986817-36986817
GRCh38: 14:36517612-36517612
18 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val) SNV Conflicting interpretations of pathogenicity 487553 rs537209983 GRCh37: 14:36986583-36986583
GRCh38: 14:36517378-36517378
19 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.816C>T (p.Thr272=) SNV Uncertain significance 313142 rs886050483 GRCh37: 14:36986873-36986873
GRCh38: 14:36517668-36517668
20 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.918G>T (p.Ala306=) SNV Uncertain significance 883116 GRCh37: 14:36986771-36986771
GRCh38: 14:36517566-36517566
21 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.911C>A (p.Ala304Asp) SNV Uncertain significance 883117 GRCh37: 14:36986778-36986778
GRCh38: 14:36517573-36517573
22 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.*577C>T SNV Uncertain significance 883820 GRCh37: 14:36985906-36985906
GRCh38: 14:36516701-36516701
23 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.*536C>T SNV Uncertain significance 883821 GRCh37: 14:36985947-36985947
GRCh38: 14:36516742-36516742
24 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.786C>T (p.Asp262=) SNV Uncertain significance 883893 GRCh37: 14:36986903-36986903
GRCh38: 14:36517698-36517698
25 NKX2-1 , NKX2-1-AS1 NM_001079668.3(NKX2-1):c.-71C>A SNV Uncertain significance 313148 rs886050485 GRCh37: 14:36989405-36989405
GRCh38: 14:36520200-36520200
26 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.*820A>G SNV Uncertain significance 313122 rs886050477 GRCh37: 14:36985663-36985663
GRCh38: 14:36516458-36516458
27 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.435C>G (p.Gly145=) SNV Uncertain significance 313145 rs886050484 GRCh37: 14:36988218-36988218
GRCh38: 14:36519013-36519013
28 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.*544G>A SNV Uncertain significance 313125 rs886050478 GRCh37: 14:36985939-36985939
GRCh38: 14:36516734-36516734
29 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.1200C>T (p.Thr400=) SNV Uncertain significance 313138 rs886050481 GRCh37: 14:36986489-36986489
GRCh38: 14:36517284-36517284
30 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.925G>T (p.Ala309Ser) SNV Uncertain significance 313141 rs886050482 GRCh37: 14:36986764-36986764
GRCh38: 14:36517559-36517559
31 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.*185_*186dup Duplication Uncertain significance 313136 rs1555349072 GRCh37: 14:36986296-36986297
GRCh38: 14:36517091-36517092
32 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.201G>A (p.Pro67=) SNV Uncertain significance 313146 rs747491554 GRCh37: 14:36988452-36988452
GRCh38: 14:36519247-36519247
33 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.*470A>G SNV Uncertain significance 313126 rs886050479 GRCh37: 14:36986013-36986013
GRCh38: 14:36516808-36516808
34 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.*186dup Duplication Uncertain significance 313135 rs1555349072 GRCh37: 14:36986296-36986297
GRCh38: 14:36517091-36517092
35 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.*460dup Duplication Uncertain significance 313129 rs5807883 GRCh37: 14:36986022-36986023
GRCh38: 14:36516817-36516818
36 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.*460del Deletion Uncertain significance 313128 rs5807883 GRCh37: 14:36986023-36986023
GRCh38: 14:36516818-36516818
37 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.*210dup Duplication Uncertain significance 313132 rs886050480 GRCh37: 14:36986272-36986273
GRCh38: 14:36517067-36517068
38 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.*459_*460dup Duplication Uncertain significance 313127 rs5807883 GRCh37: 14:36986022-36986023
GRCh38: 14:36516817-36516818
39 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.961C>A (p.Gln321Lys) SNV Uncertain significance 803015 rs1594403453 GRCh37: 14:36986728-36986728
GRCh38: 14:36517523-36517523
40 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.796_804GGCGGGGGC[3] (p.Gly269_Gly271dup) Microsatellite Uncertain significance 695342 rs577015120 GRCh37: 14:36986875-36986876
GRCh38: 14:36517670-36517671
41 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.1143_1145CTC[1] (p.Ser383del) Microsatellite Uncertain significance 689466 rs903233524 GRCh37: 14:36986541-36986543
GRCh38: 14:36517336-36517338
42 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.698C>T (p.Thr233Met) SNV Uncertain significance 635555 rs1594404015 GRCh37: 14:36986991-36986991
GRCh38: 14:36517786-36517786
43 NKX2-1 , NKX2-1-AS1 , SFTA3 NM_001079668.3(NKX2-1):c.78-151A>G SNV Likely benign 803018 rs1003307358 GRCh37: 14:36988726-36988726
GRCh38: 14:36519521-36519521
44 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.*14C>T SNV Likely benign 313137 rs755542970 GRCh37: 14:36986469-36986469
GRCh38: 14:36517264-36517264
45 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.*581del Deletion Likely benign 313123 rs534281105 GRCh37: 14:36985902-36985902
GRCh38: 14:36516697-36516697
46 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.657G>A (p.Pro219=) SNV Likely benign 313143 rs778886269 GRCh37: 14:36987032-36987032
GRCh38: 14:36517827-36517827
47 NKX2-1 , NKX2-1-AS1 NM_001079668.3(NKX2-1):c.29G>A (p.Arg10Gln) SNV Benign/Likely benign 313147 rs201979429 GRCh37: 14:36989306-36989306
GRCh38: 14:36520101-36520101
48 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) SNV Benign/Likely benign 313140 rs147542347 GRCh37: 14:36986596-36986596
GRCh38: 14:36517391-36517391
49 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.190C>A (p.Leu64Ile) SNV Benign 695624 rs201631950 GRCh37: 14:36988463-36988463
GRCh38: 14:36519258-36519258
50 NKX2-1 , SFTA3 NM_001079668.3(NKX2-1):c.464-2A>T SNV Benign 8978 rs587776708 GRCh37: 14:36987227-36987227
GRCh38: 14:36518022-36518022

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

72
# 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...

3 CDC
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11 DGIdb
17 EFO
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28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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