Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction

Preferred Label : Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction;

Symbol : CAHTP;

CISMeF acronym : CAHTP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Brain-lung-thyroid syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the thyroid transcription factor 1 gene (TITF1, 600635.0005);

Laboratory abnormalities : 'Compensated hypothyroidism' with increased TSH and normal T4; Serum thyroxine may be decreased or normal; Increased serum thyroid-stimulating hormone (TSH);

Prefixed ID : #610978;

Details

Origin ID

610978;

UMLS CUI

C1970269;

Automatic exact mappings (from CISMeF team)
- Primary congenital hypothyroidism without thyroid developmental anomaly [ORDO Disease]
Currated CISMeF NLP mapping
- Brain-lung-thyroid syndrome [ICD-11 Subcategory]
- Brain-lung-thyroid syndrome [ORDO Disease]
- Choreoathetosis - hypothyroidism - neonatal respiratory distress [ICD-11 More detail]
- Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder) [SNOMED CT concept]
- Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress [NCIt concept]
- brain thyroid lung syndrome [Disease (Nov.)]
- choreoathetosis, hypothyroidism and neonatal respiratory distress [Disease (Nov.)]
- choreoathetosis, hypothyroidism, and neonatal respiratory distress [MeSH concept]
- choreoathetosis, hypothyroidism, and neonatal respiratory distress [MeSH Supplementary Concept]
Genes related to phenotype
- Nk2 homeobox 1 [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Asthma [HPO term]
- Ataxia [HPO term]
- Atelectasis [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad-based gait [HPO term]
- Cholesteatoma [HPO term]
- Choreoathetosis [HPO term]
- Compensated hypothyroidism [HPO term]
- Congenital hypothyroidism [HPO term]
- Congenital onset [HPO term]
- Cough [HPO term]
- Crackles [HPO term]
- Cystic pattern on pulmonary HRCT [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Difficulty walking [HPO term]
- Difficulty walking in childhood [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Elevated bronchoalveolar lavage fluid lymphocyte proportion [HPO term]
- Elevated bronchoalveolar lavage fluid neutrophil proportion [HPO term]
- Elevated circulating thyroid-stimulating hormone concentration [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Gonadotropin deficiency [HPO term]
- Ground-glass opacification [HPO term]
- Hypotonia [HPO term]
- Hypoxemia [HPO term]
- Motor delay [HPO term]
- Neonatal onset [HPO term]
- Neonatal respiratory distress [HPO term]
- Oxygen desaturation on exertion [HPO term]
- Parenchymal consolidation [HPO term]
- Pulmonary fibrosis [HPO term]
- Pulmonary infiltrates [HPO term]
- Recurrent respiratory infections [HPO term]
- Respiratory distress [HPO term]
- Restrictive ventilatory defect [HPO term]
- Sleep disturbance [HPO term]
- Tachypnea [HPO term]
- Ventricular septal defect [HPO term]
- Wheezing [HPO term]
ORDO concept(s)
- Brain-lung-thyroid syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brain-lung-thyroid syndrome [ORDO Disease]
- Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder) [SNOMED CT concept]
- Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress [NCIt concept]
- choreoathetosis, hypothyroidism and neonatal respiratory distress [Disease (Nov.)]
- choreoathetosis, hypothyroidism, and neonatal respiratory distress [MeSH Supplementary Concept]
- choreoathetosis, hypothyroidism, and neonatal respiratory distress [MeSH concept]

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