RHS
MCID: RPP001
MIFTS: 47

Rapp-Hodgkin Syndrome (RHS) malady

Genetic diseases, Rare diseases categories
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Summaries for Rapp-Hodgkin Syndrome

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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 based summary: Rapp-Hodgkin Syndrome, also known as rapp-hodgkin ectodermal dysplasia syndrome, is related to rh isoimmunization and ectodermal dysplasia, and has symptoms including 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 hearing/vestibular/ear.

Description from OMIM:46 129400

Aliases & Classifications for Rapp-Hodgkin Syndrome

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 63UMLS via Orphanet
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Rapp-Hodgkin Syndrome, Aliases & Descriptions:

Name: Rapp-Hodgkin Syndrome 42 46 44 48 62
Rapp-Hodgkin Ectodermal Dysplasia Syndrome 42 22 62
Rhs 42 48
Ectodermal Dysplasia, Anhidrotic, with Cleft Lip/palate 42
 
Anhidrotic Ectodermic Dysplasia - Cleft Lip/palate 48
Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type 48
Ectodermal Dysplasia, Rapp-Hodgkin Type 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM46 129400
MESH via Orphanet35 C535289
UMLS via Orphanet63 C1785148

Related Diseases for Rapp-Hodgkin Syndrome

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



Diseases related to rapp-hodgkin syndrome

Symptoms for Rapp-Hodgkin Syndrome

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Symptoms by clinical synopsis from OMIM:

129400

Clinical features from OMIM:

129400

HPO human phenotypes related to Rapp-Hodgkin Syndrome:

(show all 33)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypospadias HP:0000047
3 hypoplastic labia majora HP:0000059
4 narrow mouth HP:0000160
5 cleft palate HP:0000175
6 bifid uvula HP:0000193
7 cleft upper lip HP:0000204
8 velopharyngeal insufficiency HP:0000220
9 hypoplasia of the maxilla HP:0000327
10 high forehead HP:0000348
11 hearing impairment HP:0000365
12 recurrent otitis media HP:0000403
13 underdeveloped nasal alae HP:0000430
14 narrow nose HP:0000460
15 ptosis HP:0000508
16 hypodontia HP:0000668
17 microdontia HP:0000691
18 conical tooth HP:0000698
19 thin skin HP:0000963
20 hypohidrosis HP:0000966
21 absent lacrimal punctum HP:0001092
22 syndactyly HP:0001159
23 small nail HP:0001792
24 thick nail HP:0001805
25 fine hair HP:0002213
26 pili canaliculi HP:0002235
27 progressive alopecia HP:0002287
28 short stature HP:0004322
29 depressed nasal bridge HP:0005280
30 decreased number of sweat glands HP:0007500
31 sparse hair HP:0008070
32 sparse hair HP:0008070
33 small, conical teeth HP:0200141

Drugs & Therapeutics for Rapp-Hodgkin Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Rapp-Hodgkin Syndrome

Genetic Tests for Rapp-Hodgkin Syndrome

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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

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MalaCards organs/tissues related to Rapp-Hodgkin Syndrome:

32
Skin, Tongue

Animal Models for Rapp-Hodgkin Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rapp-Hodgkin Syndrome:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.5DLX5, TP63
2MP:00053778.8DLX5, DLX6
3MP:00053718.8DLX5, DLX6, TP63
4MP:00053828.7TP63, DLX6, DLX5
5MP:00053888.7DLX5, DLX6, TP63
6MP:00053818.7TP63, DLX6, DLX5
7MP:00053918.7DLX5, DLX6, TP63
8MP:00053908.6TP63, DLX6, DLX5
9MP:00107718.6DLX5, DLX6, TP63
10MP:00053808.5DLX5, DLX6, TP63
11MP:00107688.5DLX5, DLX6, TP63
12MP:00053788.4TP63, DLX6, DLX5

Publications for Rapp-Hodgkin Syndrome

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Articles related to Rapp-Hodgkin Syndrome:

(show all 24)
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
Rapp-Hodgkin syndrome: clinical and dental findings. (19953814)
2009
7
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
8
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome. (16824815)
2006
9
Rapp-Hodgkin syndrome and the tail of p63. (15725251)
2005
10
Rapp-Hodgkin syndrome: a review of the aspects of hair and hair color. (16198808)
2005
11
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. (15200513)
2004
12
Rapp-Hodgkin syndrome. (15748593)
2004
13
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. (12939657)
2003
14
Mixed clefting type in Rapp-Hodgkin syndrome. (11920831)
2002
15
Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: newly recognized findings. (9779799)
1998
16
What syndrome is this? Rapp-Hodgkin syndrome. (9144704)
1997
17
Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity? (8305327)
1994
18
Cephalometric analysis of Rapp-Hodgkin syndrome. (7837251)
1994
19
Rapp-Hodgkin syndrome with pili canaliculi. (8493170)
1993
20
The Rapp-Hodgkin syndrome. (2012121)
1991
21
Rapp-Hodgkin syndrome. (1859572)
1991
22
Rapp-Hodgkin syndrome: report of a Brazilian family. (2389804)
1990
23
Rapp-Hodgkin syndrome: an ectodermal dysplasia involving the teeth, hair, nails, and palate. Report of a case and review of the literature. (2643072)
1989
24
Rapp-Hodgkin syndrome: observations on ten cases and characteristic hair changes (pili canaliculi). (3179424)
1988

Variations for Rapp-Hodgkin Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Rapp-Hodgkin Syndrome:

64
id Symbol AA change Variation ID SNP ID
1TP63p.Arg318HisVAR_020873
2TP63p.Arg352GlyVAR_035127
3TP63p.Arg352GlyVAR_035127
4TP63p.Ile549ThrVAR_035128
5TP63p.Ser580ProVAR_035129

Clinvar genetic disease variations for Rapp-Hodgkin Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1TP63NM_003722.4(TP63): c.953G> A (p.Arg318His)single nucleotide variantPathogenicrs121908840GRCh37Chr 3, 189585692: 189585692
2TP63TP63, 1-BP DEL, 1709AdeletionPathogenic
3TP63TP63, 1-BP DEL, 1859AdeletionPathogenic
4TP63NM_003722.4(TP63): c.1646T> C (p.Ile549Thr)single nucleotide variantPathogenicrs121908845GRCh37Chr 3, 189607267: 189607267
5TP63NM_003722.4(TP63): c.1738T> C (p.Ser580Pro)single nucleotide variantPathogenicrs121908846GRCh37Chr 3, 189608663: 189608663
6TP63TP63, 1-BP DEL, 1783CdeletionPathogenic
7TP63TP63, 11-BP DUP, NT1716duplicationPathogenic

Expression for genes affiliated with Rapp-Hodgkin Syndrome

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Expression patterns in normal tissues for genes affiliated with Rapp-Hodgkin Syndrome

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Pathways for genes affiliated with Rapp-Hodgkin Syndrome

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Compounds for genes affiliated with Rapp-Hodgkin Syndrome

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GO Terms for genes affiliated with Rapp-Hodgkin Syndrome

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

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

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of osteoblast differentiationGO:0456699.5DLX5, TP63
2positive regulation of transcription, DNA-templatedGO:0458939.3DLX5, TP63
3anatomical structure formation involved in morphogenesisGO:0486469.3DLX6, DLX5
4positive regulation of epithelial cell proliferationGO:0506799.2DLX6, DLX5
5inner ear morphogenesisGO:0424729.2DLX6, DLX5
6palate developmentGO:0600219.1DLX5, DLX6
7epithelial cell differentiationGO:0308559.0DLX6, DLX5
8nervous system developmentGO:0073998.8DLX5, DLX6
9embryonic limb morphogenesisGO:0303268.7DLX5, DLX6, TP63
10skeletal system developmentGO:0015018.7DLX5, DLX6, TP63

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

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

Products for genes affiliated with Rapp-Hodgkin Syndrome

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Sources for Rapp-Hodgkin Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet