Details of Disease | DrugMAP

General Information of Disease (ID: DISSL12Z)

Disease Name	Brain-lung-thyroid syndrome
Synonyms	choreoathetosis-hypothyroidism-neonatal respiratory distress; CAHTP; choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction; BLT syndrome; choreoathetosis, hypothyroidism, and neonatal respiratory distress; choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome; brain-lung-thyroid syndrome
Definition	Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).
Disease Hierarchy	DISRGY2N: Endocrine disease DIS6SVEE: Syndromic disease DISD715V: Hereditary neurological disease DISOJJ2D: Movement disorder DISSL12Z: Brain-lung-thyroid syndrome
Disease Identifiers	MONDO ID MONDO_0012593 MESH ID C567034 UMLS CUI C1970269 OMIM ID 610978 MedGen ID 369694 Orphanet ID 209905 SNOMED CT ID 719098007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MBIP	OTORHZ9Y	Limited	Biomarker	[1]
PAX9	OT25J0F7	Strong	Genetic Variation	[2]
NKX2-1	OTCMEJTA	Definitive	Autosomal dominant	[3]
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References

1	A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1.Eur J Med Genet. 2017 May;60(5):257-260. doi: 10.1016/j.ejmg.2017.03.001. Epub 2017 Mar 7.
2	The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency. Eur J Med Genet. 2018 Jul;61(7):393-398. doi: 10.1016/j.ejmg.2018.02.007. Epub 2018 Feb 22.
3	Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. J Pediatr. 2004 Aug;145(2):190-3. doi: 10.1016/j.jpeds.2004.04.011.