Medicine:Bamforth–Lazarus syndrome

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

References

↑ "Congenital anomalies associated with hypothyroidism". Arch. Dis. Child. 61 (6): 608–9. June 1986. doi:10.1136/adc.61.6.608. PMID 3729532.
↑ "Congenital hypothyroidism, spiky hair, and cleft palate". J. Med. Genet. 26 (1): 49–51. January 1989. doi:10.1136/jmg.26.1.49. 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.
↑ "MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1". Hum. Mol. Genet. 20 (5): 1016–25. March 2011. doi:10.1093/hmg/ddq547. PMID 21177256.

External links

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

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

Transcription coregulators

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

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