Bamforth–Lazarus syndrome

Bamforth–Lazarus syndrome is a genetic condition that results in thyroid dysgenesis.[1][2] It is due to recessive mutations in forkhead/winged-helix domain transcription factor (FKLH15 or TTF2).[3] It is associated with FOXE1.[4]

Bamforth–Lazarus syndrome
Other names	Athyroidal hypothyroidism-spiky hair-cleft palate syndrome

References

Bamforth JS, Hughes I, Lazarus J, John R (June 1986). "Congenital anomalies associated with hypothyroidism". Arch. Dis. Child. 61 (6): 608–9. doi:10.1136/adc.61.6.608. PMC 1777822. PMID 3729532.
Bamforth JS, Hughes IA, Lazarus JH, Weaver CM, Harper PS (January 1989). "Congenital hypothyroidism, spiky hair, and cleft palate". J. Med. Genet. 26 (1): 49–51. doi:10.1136/jmg.26.1.49. PMC 1015536. PMID 2918525.
Kopp P (June 2002). "Perspective: genetic defects in the etiology of congenital hypothyroidism". Endocrinology. 143 (6): 2019–24. doi:10.1210/endo.143.6.8864. PMID 12021164.
Venza I, Visalli M, Parrillo L, De Felice M, Teti D, Venza M (March 2011). "MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1". Hum. Mol. Genet. 20 (5): 1016–25. doi:10.1093/hmg/ddq547. PMID 21177256.

External links

Congenital endocrine disorders
Pituitary	Congenital hypopituitarism
Thyroid	Thyroid disease Persistent thyroglossal duct Thyroglossal cyst Congenital hypothyroidism Thyroid dysgenesis Thyroid dyshormonogenesis Pendred syndrome
Parathyroid	Congenital absence of parathyroid
Adrenal	Absent adrenal gland

Genetic disorders relating to deficiencies of transcription factor or coregulators

(1) Basic domains

1.2	Feingold syndrome Saethre–Chotzen syndrome
1.3	Tietz syndrome

(2) Zinc finger
DNA-binding domains

2.1	(Intracellular receptor): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis
2.2	Barakat syndrome Tricho–rhino–phalangeal syndrome
2.3	Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2
2.5	Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains

3.1	ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome
3.2	PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3
3.3	FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX
3.5	IRF6 Van der Woude syndrome Popliteal pterygium syndrome

(4) β-Scaffold factors
with minor groove contacts

4.2	Hyperimmunoglobulin E syndrome
4.3	Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome
4.7	Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome
4.11	Cleidocranial dysostosis

(0) Other transcription factors

0.6	Kabuki syndrome

Ungrouped

TCF4
- Pitt–Hopkins syndrome
ZFP57
- TNDM1
TP63
- Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8

Transcription coregulators

Coactivator:	CREBBP Rubinstein–Taybi syndrome
Corepressor:	HR (Atrichia with papular lesions)

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

Classification	D ICD-10: E03.1 OMIM: 241850 MeSH: C537901
External resources	Orphanet: 1226