ORPHA:209905
Brain-lung-thyroid syndrome
Synonyms: Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brain-lung-thyroid syndrome | Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome |
| fr | Syndrome cerveau-poumon-thyroïde | Syndrome de choréoathétose-hypothyroïdie-détresse respiratoire néonatale |
| de | Hirn-Lunge-Schilddrüsen-Syndrom | Choreoathetose-Hypothyreose-neonatale Atemnot-Syndrom |
| es | Síndrome cerebro-pulmón-tiroides | Síndrome de coreoatetosis-hipotiroidismo-dificultad respiratoria neonatal |
| it | Sindrome cervello-polmone-tiroide | Sindrome coreatetosi-ipotiroidismo-distress respiratorio neonatale |
| nl | Hersenen - long - schildklier-syndroom | Choreoathetose - hypothyreoïdie - neonatale ademhalingsnood-syndroom |
| pt | Síndrome cérebro-pulmão-tiroide | Síndrome de coreoatetose-hipotiroidismo-dificuldade respiratória neonatal |
| pl | Zespół mózg-płuca-tarczyca | Zespół choreoatetozy, niedoczynności tarczycy i niewydolności oddechowej noworodków |
| cs | Syndrom mozku, plic a štítné žlázy | Syndrom zahrnující choreoatetózu, hypotyreózu a dechovou tíseň novorozence |
| uk | Мозково-легенево-тиреоїдний синдром | Хореоатетоз - гіпотиреоз - респіраторний дистрес-синдром новонароджених |
| zh | 脑-肺-甲状腺综合征 | 舞蹈手足徐动症-甲状腺机能减退-新生儿呼吸窘迫综合征 |
| tr | Beyin-akciğer-tiroid sendromu | Koreoatetoz-hipotiroidi-yenidoğan solunum sıkıntısı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610978 | E | validated | |
| ICD-10 | E03.1 | NTBT | attributed | validated |
| ICD-11 | CB04.5 | E | specific | validated |
| MONDO | 0012593 | E | validated | |
| MeSH | C567034 | E | validated | |
| UMLS | C1970269 | E | validated | |
| GARD | 12163 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:306719Neurodegenerative disease with chorea
rare genetic diseases; rare neurological diseases - ORPHA:100049Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
rare genetic diseases; rare respiratory diseases; rare transplant-related disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:177107Syndromic hypothyroidism
rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NKX2-1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11825 | ENSG00000136352 | 600635 | 14q13.3 | NK2 homeobox 1 | 24129101[PMID]_24555207[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 28286255[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28286255[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
60 annotations · validated 2019-09-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000820 | Abnormality of the thyroid gland | |
| Frequent (79-30%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0001251 | Ataxia | |
| HP:0002072 | Chorea | |
| HP:0001266 | Choreoathetosis | |
| HP:0000851 | Congenital hypothyroidism | |
| HP:0008947 | Floppy infant | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0002098 | Respiratory distress | |
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0002186 | Apraxia | |
| HP:0001631 | Atrial septal defect | |
| HP:0002312 | Clumsiness | |
| HP:0008223 | Compensated hypothyroidism | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0002311 | Incoordination | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002080 | Intention tremor | |
| HP:0004305 | Involuntary movements | |
| HP:0001270 | Motor delay | |
| HP:0001336 | Myoclonus | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0008188 | Thyroid dysgenesis | |
| HP:0011780 | Thyroid hemiagenesis | |
| HP:0001629 | Ventricular septal defect | |
| Very rare (<4-1%) | ||
| HP:0030082 | Abnormal drinking behavior | |
| HP:0100738 | Abnormal eating behavior | |
| HP:0001999 | Abnormal facial shape | |
| HP:0002679 | Abnormality of the sella turcica | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002099 | Asthma | |
| HP:0002389 | Cavum septum pellucidum | |
| HP:0000722 | Compulsive behaviors | |
| HP:0002527 | Falls | |
| HP:0000752 | Hyperactivity | |
| HP:0000668 | Hypodontia | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0000047 | Hypospadias | |
| HP:0000021 | Megacystis | |
| HP:0000252 | Microcephaly | |
| HP:0001655 | Patent foramen ovale | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0002878 | Respiratory failure | |
| HP:0100753 | Schizophrenia | |
| HP:0000736 | Short attention span | |
| HP:0004322 | Short stature | |
| HP:0002360 | Sleep abnormality | |
| HP:0001955 | Unexplained fevers | |
| HP:0000076 | Vesicoureteral reflux | |
| HP:0000465 | Webbed neck | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 25412988[PMID]_24714694[PMID]_23430038[PMID]_22832740[PMID]_19336474[PMID]_24555207[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/209905
- This record as JSON: /data/d/209905.json