Details of Disease

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.