RHS
MCID: RPP001
MIFTS: 34

Rapp-Hodgkin Syndrome (RHS) malady

Summaries for Rapp-Hodgkin Syndrome

About this section
Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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 rh isoimmunization and prostatitis. An important gene associated with Rapp-Hodgkin Syndrome is TP63 (tumor protein p63). Affiliated tissues include skin, and related mouse phenotypes are taste/olfaction and limbs/digits/tail.

Description from OMIM:46 129400

Aliases & Classifications for Rapp-Hodgkin Syndrome

About this section
Sources:
42NIH Rare Diseases, 46OMIM, 44Novoseek, 60UMLS, 22GTR
See all sources

Aliases & Descriptions:

rapp-hodgkin syndrome 42 46 44 60
rapp-hodgkin ectodermal dysplasia syndrome 42 22
ectodermal dysplasia, anhidrotic, with cleft lip/palate 42
rhs 42


Related Diseases for Rapp-Hodgkin Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Rapp-Hodgkin Syndrome:



Diseases related to rapp-hodgkin syndrome

Clinical Features for Rapp-Hodgkin Syndrome

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

129400

Clinical synopsis from OMIM:

129400

Drugs & Therapeutics for Rapp-Hodgkin Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
22GTR
See all sources

Genetic tests related to Rapp-Hodgkin Syndrome:

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

Anatomical Context for Rapp-Hodgkin Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Rapp-Hodgkin Syndrome:

32
Skin

Animal Models for Rapp-Hodgkin Syndrome or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Rapp-Hodgkin Syndrome:

36
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

About this section

Genetic Variations for Rapp-Hodgkin Syndrome

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Rapp-Hodgkin Syndrome:

62
id Symbol AA change Variation ID 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

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Rapp-Hodgkin Syndrome

About this section

GO Terms for genes affiliated with Rapp-Hodgkin Syndrome

About this section
Sources:
16Gene Ontology
See all sources

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

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rapp-Hodgkin Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet