Rapp–Hodgkin syndrome

Medical condition
Rapp–Hodgkin syndrome
Other namesEctodermal dysplasia, anhidrotic, with cleft lip/palate[1]

Rapp–Hodgkin syndrome was formerly thought to be a unique autosomal dominant disorder due to a P63 gene mutation. However, it was recently shown to the same disease as Hay–Wells syndrome.[2]

It was first characterized in 1968.[3]

See also

References

  1. ^ "Rapp–Hodgkin syndrome". The Genetic and Rare Diseases Information Center. NIH. Retrieved 19 March 2019.
  2. ^ Clements SE, Techanukul T, Holden ST, et al. (September 2010). "Rapp–Hodgkin and Hay–Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder". Br. J. Dermatol. 163 (3): 624–9. doi:10.1111/j.1365-2133.2010.09859.x. PMID 20491771. S2CID 44866051.
  3. ^ Rapp RS, Hodgkin WE (December 1968). "Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies". J. Med. Genet. 5 (4): 269–72. doi:10.1136/jmg.5.4.269. PMC 1468665. PMID 5713637.

Further reading

  • GeneReviews/NCBI/NIH/UW entry on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome or AEC Syndrome, Hay–Wells Syndrome. Includes: Rapp–Hodgkin Syndrome

External links

Classification
D
  • OMIM: 129400
  • MeSH: C535289
External resources
  • Orphanet: 3022
  • OMIM entries on AEC
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Genetic disorders relating to deficiencies of transcription factor or coregulators
(1) Basic domains
1.2
1.3
  • Tietz syndrome
(2) Zinc finger
DNA-binding domains
2.1
2.2
2.3
2.5
(3) Helix-turn-helix domains
3.1
3.2
3.3
3.5
(4) β-Scaffold factors
with minor groove contacts
4.2
4.3
4.7
4.11
(0) Other transcription factors
0.6
Ungrouped
Transcription coregulators
Coactivator:
Corepressor:


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