Details of Disease | DrugMAP

General Information of Disease (ID: DISDLIBD)

Disease Name	Bamforth-Lazarus syndrome
Synonyms	hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate; hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate; hypothyroidism-cleft palate syndrome; Athyroidal hypothyroidism-spiky hair-cleft palate syndrome; Bamforth-Lazarus syndrome; hypothyroidism, ATHYROIDAL, with spiky hair and cleft palate; Bamforth syndrome
Definition	Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.
Disease Hierarchy	DISRGY2N: Endocrine disease DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISDLIBD: Bamforth-Lazarus syndrome
Disease Identifiers	MONDO ID MONDO_0009437 MESH ID C537901 UMLS CUI C1855794 OMIM ID 241850 MedGen ID 343420 Orphanet ID 1226 SNOMED CT ID 722375007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BCHE	TT3MSAO	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FOXE1	OT5IR5IT	Definitive	Autosomal recessive	[2]
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References

1	Unexpected prolonged paralysis after mivacurium in a patient with Bamforth syndrome.Paediatr Anaesth. 2006 Aug;16(8):892-4. doi: 10.1111/j.1460-9592.2006.01919.x.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.