RHS
MCID: RPP001
MIFTS: 37

Rapp-Hodgkin Syndrome (RHS) malady

Summaries for Rapp-Hodgkin Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Rapp-hodgkin syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. this condition is characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate. other common features include sparse, brittle, and dry hair with alopecia in adulthood together with hypohidrosis (a reduced ability to sweat) and heat intolerance, dental anomalies (hypodontia (absent teeth) , cone-shaped incisors and enamel hypoplasia (thin or absent tooth enamel) and dysplastic (misshapen or absent) nails. rapp-hodgkin syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the tp63 gene. treatment is symptomatic and supportive. a multidisciplinary team of specialists in medical genetics, dermatology, ophthalmology, otolaryngology, audiology, dentistry and prosthodontics, plastic surgery, gastroenterology, and psychiatry is recommended.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. last updated: 8/16/2011

MalaCards: Rapp-Hodgkin Syndrome, also known as rapp-hodgkin ectodermal dysplasia syndrome, is related to ectodermal dysplasia and pili torti. An important gene associated with Rapp-Hodgkin Syndrome is TP63 (tumor protein p63). Affiliated tissues include skin and tongue, and related mouse phenotypes are taste/olfaction and limbs/digits/tail.

Description from OMIM:47 129400

Aliases & Classifications for Rapp-Hodgkin Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 45Novoseek, 61UMLS, 22GTR
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Aliases & Descriptions:

rapp-hodgkin syndrome 43 47 45 61
rapp-hodgkin ectodermal dysplasia syndrome 43 22
ectodermal dysplasia, anhidrotic, with cleft lip/palate 43
rhs 43


Related Diseases for Rapp-Hodgkin Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Rapp-Hodgkin Syndrome:



Diseases related to rapp-hodgkin syndrome

Clinical Features for Rapp-Hodgkin Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

129400

Clinical synopsis from OMIM:

129400

Drugs & Therapeutics for Rapp-Hodgkin Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Rapp-Hodgkin Syndrome

Drug clinical trials:

Search ClinicalTrials for Rapp-Hodgkin Syndrome

Search NIH Clinical Center for Rapp-Hodgkin Syndrome

Search CenterWatch for Rapp-Hodgkin Syndrome

Genetic Tests for Rapp-Hodgkin Syndrome

Sources:
22GTR
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Genetic tests related to Rapp-Hodgkin Syndrome:

id Genetic test Affiliating Genes
1 Rapp-hodgkin Ectodermal Dysplasia Syndrome22

Anatomical Context for Rapp-Hodgkin Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Rapp-Hodgkin Syndrome:

33
Skin, Tongue

Animal Models for Rapp-Hodgkin Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Rapp-Hodgkin Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.3TP63, DLX5
2MP:00053718.7TP63, DLX5, DLX6
3MP:00053828.7DLX6, DLX5, TP63
4MP:00053888.6TP63, DLX5, DLX6
5MP:00053818.6DLX6, DLX5, TP63
6MP:00053808.5TP63, DLX5, DLX6
7MP:00053908.4TP63, DLX5, DLX6
8MP:00107718.2DLX6, DLX5, TP63

Publications for Rapp-Hodgkin Syndrome

Sources:
51PubMed
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Articles related to Rapp-Hodgkin Syndrome:

(show all 33)
idTitleAuthorsYear
1
Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome. (23662261)
2013
2
Cicatricial external auditory canal stenosis caused by ectodermal dysplasia: Rapp-Hodgkin syndrome. (23780599)
2013
3
Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway. (22342398)
2012
4
Prosthetic rehabilitation of a child with Rapp-Hodgkin syndrome. (22828770)
2012
5
Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome. (22759387)
2012
6
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes. (22069181)
2011
7
Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder. (20491771)
2010
8
Rapp-Hodgkin syndrome: clinical and dental findings. (19953814)
2009
9
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. (18364388)
2008
10
An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology. (19239083)
2008
11
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome. (16824815)
2006
12
Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome. (16532463)
2006
13
De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome. (15807690)
2005
14
Rapp-Hodgkin syndrome and the tail of p63. (15725251)
2005
15
Rapp-Hodgkin syndrome: a review of the aspects of hair and hair color. (16198808)
2005
16
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. (15200513)
2004
17
Rapp-Hodgkin syndrome. (15748593)
2004
18
Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes. (15347331)
2004
19
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. (12939657)
2003
20
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. (14684701)
2003
21
Mixed clefting type in Rapp-Hodgkin syndrome. (11920831)
2002
22
Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: newly recognized findings. (9779799)
1998
23
What syndrome is this? Rapp-Hodgkin syndrome. (9144704)
1997
24
Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity? (8305327)
1994
25
Cephalometric analysis of Rapp-Hodgkin syndrome. (7837251)
1994
26
Rapp-Hodgkin syndrome with pili canaliculi. (8493170)
1993
27
The Rapp-Hodgkin syndrome. (2012121)
1991
28
Rapp-Hodgkin syndrome. (1859572)
1991
29
Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome. (2015692)
1991
30
Rapp-Hodgkin syndrome: report of a Brazilian family. (2389804)
1990
31
Rapp-Hodgkin syndrome: an ectodermal dysplasia involving the teeth, hair, nails, and palate. Report of a case and review of the literature. (2643072)
1989
32
Rapp-Hodgkin syndrome: observations on ten cases and characteristic hair changes (pili canaliculi). (3179424)
1988
33
Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome. (7116674)
1982

Genetic Variations for Rapp-Hodgkin Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Rapp-Hodgkin Syndrome:

63
id Symbol AA change Variation SNP ID
1TP63p.Arg318HisVAR_020873
2TP63p.Arg352GlyVAR_035127
3TP63p.Arg352GlyVAR_035127
4TP63p.Ile549ThrVAR_035128
5TP63p.Ser580ProVAR_035129

Expression for genes affiliated with Rapp-Hodgkin Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Rapp-Hodgkin Syndrome

Search GEO for disease gene expression data for Rapp-Hodgkin Syndrome.

Pathways for genes affiliated with Rapp-Hodgkin Syndrome

Compounds for genes affiliated with Rapp-Hodgkin Syndrome

GO Terms for genes affiliated with Rapp-Hodgkin Syndrome

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16Gene Ontology
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Cellular components related to Rapp-Hodgkin Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear chromatinGO:0007909.3TP63, DLX5

Biological processes related to Rapp-Hodgkin Syndrome according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of osteoblast differentiationGO:0456699.4TP63, DLX5
2positive regulation of transcription, DNA-dependentGO:0458939.3TP63, DLX5
3anatomical structure formation involved in morphogenesisGO:0486469.3DLX5, DLX6
4epithelial cell differentiationGO:0308559.3DLX6, DLX5
5positive regulation of epithelial cell proliferationGO:0506799.2DLX5, DLX6
6inner ear morphogenesisGO:0424729.1DLX6, DLX5
7palate developmentGO:0600219.0DLX5, DLX6
8nervous system developmentGO:0073998.8DLX6, DLX5
9embryonic limb morphogenesisGO:0303268.7DLX6, DLX5, TP63
10skeletal system developmentGO:0015018.7TP63, DLX6, DLX5

Molecular functions related to Rapp-Hodgkin Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:0442129.3TP63, DLX5
2RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positiveGO:0010779.0TP63, DLX5

Products for genes affiliated with Rapp-Hodgkin Syndrome

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Sources for Rapp-Hodgkin Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet