Bamforth–Lazarus syndrome

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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

^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1777822.
^ 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. http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=2918525.
^ Kopp P (June 2002). "Perspective: genetic defects in the etiology of congenital hypothyroidism". Endocrinology 143 (6): 2019–24. doi:10.1210/en.143.6.2019. 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. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=21177256.

Congenital endocrine disease (Q89.1–Q89.2, 759.1–759.2)

Pancreas

see congenital digestive

Hypothalamic/
pituitary axes
+parathyroid

Pituitary	Congenital hypopituitarism

Thyroid	Persistent thyroglossal duct · Thyroglossal cyst Congenital hypothyroidism: Thyroid dysgenesis · Thyroid dyshormonogenesis (Pendred syndrome)

Parathyroid	Congenital absence of parathyroid

Adrenal	Absent adrenal gland

Gonads	see congenital reproductive

M: END

anat/phys/devp/horm

noco(d)/cong/tumr, sysi/epon

proc, drug (A10/H1/H2/H3/H5)

v t e Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies

(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) · HLXB9 (Currarino syndrome) · HOXD13 (SPD1 Synpolydactyly) · IPF1 (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 3, 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)

see also transcription factors B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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