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GeneReviews/NCBI/NIH/UW entry on Waardenburg Syndrome Type I
OMIM Genetic disorder catalog เก็บถาวร 2010-04-12 ที่ เวย์แบ็กแมชชีน - Waardenburg syndrome
| ด ค กGenetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies |
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(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
| ด ค กExtracellular ligand disorders |
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Cytokine:  EDA Hypohidrotic ectodermal dysplasia  Camurati-Engelmann disease 
Ephrin:  Craniofrontonasal syndrome 
WNT:  Tetra-amelia syndrome 
TGF:  OFC 11 
Fas ligand:  Autoimmune lymphoproliferative syndrome 1B 
Endothelin:  EDN3 (Waardenburg syndrome IVb, Hirschsprung's disease 4) 
Other:  DHH (DHH XY gonadal dysgenesis)  BMP15 (Premature ovarian failure 4)  TSHB (Congenital hypothyroidism 4) 
see also intercellular signaling peptides and proteins 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