KEGG   DISEASE: Bamforth-Lazarus syndromeHelp
Entry
H01040                      Disease                                

Name
Bamforth-Lazarus syndrome
Description
Bamforth-Lazarus syndrome is congenital hypothyroidism associated with choanal atresia, bifid epiglottis, and abnormal hair. It has been suggested that mutations in FOXE1 are associated with Bamforth-Lazarus syndrome. FOXE1 is a member of the forkhead/winged-helix family and functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Thyroid gland diseases
   H01040  Bamforth-Lazarus syndrome
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the thyroid gland or thyroid hormones system
    5A00  Hypothyroidism
     H01040  Bamforth-Lazarus syndrome
BRITE hierarchy
Gene
FOXE1 [HSA:2304] [KO:K09398]
Other DBs
ICD-11: 5A00.0Y
ICD-10: E03.1
MeSH: C537901
OMIM: 241850
Reference
  Authors
Castanet M, Polak M
  Title
Spectrum of Human Foxe1/TTF2 Mutations.
  Journal
Horm Res Paediatr 73:423-9 (2010)
DOI:10.1159/000281438
Reference
PMID:2918525
  Authors
Bamforth JS, Hughes IA, Lazarus JH, Weaver CM, Harper PS
  Title
Congenital hypothyroidism, spiky hair, and cleft palate.
  Journal
J Med Genet 26:49-51 (1989)
DOI:10.1136/jmg.26.1.49

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