Details of Disease | DrugMAP

General Information of Disease (ID: DISCNGW9)

Disease Name	Rapp-Hodgkin syndrome
Synonyms	ectodermal dysplasia, anhidrotic, with cleft lip-palate; orofacial cleft 8; RHS; Rapp-Hodgkin ectodermal dysplasia syndrome; OFC8, included; cleft lip with or without cleft palate, nonsyndromic, 8; ectodermal dysplasia, anhidrotic, with cleft Lip/palate; Rapp-Hodgkin syndrome; anhidrotic ectodermal dysplasia with cleft lip/palate
Definition	A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.\|Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum
Disease Hierarchy	DISV3XW6: Cleft lip DISLRS4M: Ectodermal dysplasia DIS6G5TF: Cleft palate DIS3HIWD: Autosomal dominant disease DISCNGW9: Rapp-Hodgkin syndrome
Disease Identifiers	MONDO ID MONDO_0007508 MESH ID C535289 UMLS CUI C1785148 OMIM ID 129400 MedGen ID 315656 Orphanet ID 3022

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RPE65	TTBOH16	Disputed	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DHCR7	DEL7GFA	Strong	Genetic Variation	[2]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CKAP4	OTDUC9ME	Disputed	Genetic Variation	[1]
DLX5	OTEEFBEU	Strong	Genetic Variation	[1]
DLX6	OT0FIJHY	Strong	Genetic Variation	[1]
TP63	OT0WOOKQ	Definitive	Autosomal dominant	[3]
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References

1	Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.Gene. 2012 Apr 15;497(2):292-7. doi: 10.1016/j.gene.2012.01.088. Epub 2012 Feb 9.
2	Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.Am J Med Genet. 2001 Sep 15;103(1):75-80. doi: 10.1002/1096-8628(20010915)103:1<75::aid-ajmg1502>3.0.co;2-r.
3	Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet. 2000 Jul;67(1):59-66. doi: 10.1086/302972. Epub 2000 Jun 5.