Brain-lung-thyroid syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: BRAIN-LUNG-THYROID SYNDROME CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM, INCLUDED
Choreoathetosis - hypothyroidism - neonatal respiratory distress
Number of Symptoms 26
OrphanetNr: 209905
OMIM Id: 610978
ICD-10: E03.1
P22.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic dermis disorder
 -Rare genetic disease
Neurodegenerative disease with chorea
 -Rare genetic disease
 -Rare neurologic disease
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
 -Rare genetic disease
 -Rare respiratory disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic hypothyroidism
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001260) Dysarthria 329 / 7739
2
 (HPO:0001263) Global developmental delay 853 / 7739
3
 (HPO:0002355) Difficulty walking 61 / 7739
4
 (HPO:0002360) Sleep disturbance rare [HPO:skoehler] 113 / 7739
5
 (HPO:0001251) Ataxia 413 / 7739
6
 (HPO:0001332) Dystonia 197 / 7739
7
 (HPO:0001266) Choreoathetosis 57 / 7739
8
 (HPO:0001270) Motor delay 322 / 7739
9
 (HPO:0000851) Congenital hypothyroidism 16 / 7739
10
 (HPO:0008223) Compensated hypothyroidism 3 / 7739
11
 (HPO:0002925) Thyroid-stimulating hormone excess 12 / 7739
12
 (HPO:0004760) Congenital septal defect rare [HPO:skoehler] 69 / 7739
13
 (HPO:0002099) Asthma rare [HPO:skoehler] 62 / 7739
14
 (HPO:0002098) Respiratory distress 75 / 7739
15
 (HPO:0002643) Neonatal respiratory distress 22 / 7739
16
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
17
 (HPO:0010547) Muscle flaccidity 466 / 7739
18
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
19
 (HPO:0001324) Muscle weakness 859 / 7739
20
 (HPO:0001252) Muscular hypotonia 990 / 7739
21
 (OMIM) Hypoplasia of the thyroid gland in some patients 1 / 7739
22
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
 (OMIM) 'Compensated hypothyroidism' with increased TSH and normal T4 1 / 7739
24
 (OMIM) Serum thyroxine may be decreased or normal 1 / 7739
25
 (OMIM) Difficulty walking in childhood 1 / 7739
26
 (HPO:0003577) Congenital onset 133 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pohlenz et al. (2002) described a boy with neonatal respiratory distress requiring mechanical ventilation and mildly increased serum thyrotropin (TSH; 188540) with normal serum thyroxine. He was hypotonic, showed delayed development, and staggering gait later in childhood. By ...
Molecular genetics OMIM Devriendt et al. (1998) identified deletion of the TITF1 gene in an infant with neonatal thyroid dysfunction, respiratory failure, hypotonia, and ataxia. Iwatani et al. (2000) reported deletion of the TITF1 gene in 2 sibs with hypothyroidism and ...