MCID: RPP001
MIFTS: 53

Rapp-Hodgkin Syndrome malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Rapp-Hodgkin Syndrome

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Aliases & Descriptions for Rapp-Hodgkin Syndrome:

Name: Rapp-Hodgkin Syndrome 49 10 45 22 47 12 65 67
Orofacial Cleft 8 49 11 22 65 67
Anhidrotic Ectodermal Dysplasia with Cleft Lip/palate 10 67
Rapp-Hodgkin Ectodermal Dysplasia Syndrome 45 24
Ofc8 22 67
Rhs 45 67
Ectodermal Dysplasia, Anhidrotic, with Cleft Lip/palate 45
 
Non-Syndromic Cleft Lip with or Without Cleft Palate 8 67
Ectodermal Dysplasia, Rapp-Hodgkin Type 67
Rapp-Hodgkin Ectodermal Dysplasia 67
Non-Syndromic Cleft Lip/palate 8 67
Non-Syndromic Orofacial Cleft 8 67
Edrh 67


Classifications:



External Ids:

OMIM49 129400
Disease Ontology10 DOID:0060330

Summaries for Rapp-Hodgkin Syndrome

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NIH Rare Diseases:45 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 orofacial cleft 8, is related to rh isoimmunization and ectodermal dysplasia, and has symptoms including autosomal dominant inheritance, hypospadias and hypoplastic labia majora. An important gene associated with Rapp-Hodgkin Syndrome is TP63 (Tumor Protein P63), and among its related pathways are Parkinsons Disease Pathway and Alpha-synuclein signaling. Affiliated tissues include skin and tongue, and related mouse phenotypes are taste/olfaction and craniofacial.

Disease Ontology:10 An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.

UniProtKB/Swiss-Prot:67 Ectodermal dysplasia, Rapp-Hodgkin type: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by the combination of anhidrotic ectodermal dysplasia, cleft lip, and cleft palate. The clinical syndrome is comprised of a characteristic facies (narrow nose and small mouth), wiry, slow- growing, and uncombable hair, sparse eyelashes and eyebrows, obstructed lacrimal puncta/epiphora, bilateral stenosis of external auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel hypoplasia, dystrophic nails, and cleft lip/cleft palate. Non-syndromic orofacial cleft 8: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.

Description from OMIM:49 129400

Related Diseases for Rapp-Hodgkin Syndrome

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Diseases related to Rapp-Hodgkin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 177)
idRelated DiseaseScoreTop Affiliating Genes
1rh isoimmunization10.9
2ectodermal dysplasia10.6
3prostate cancer10.5
4prostatitis10.5
5hay-wells syndrome10.5
6pili torti10.5
7wells syndrome10.5
8rh deficiency syndrome10.4
9anemia, hemolytic, rh-null, regulator type10.4
10leukemia10.3
11rh-null regulator type related hemolytic anemia10.3
12neuroblastoma10.2
13lung cancer10.2
14hydrops fetalis10.2
15bacterial esophagitis10.2SATB2, TP63
16hemolytic anemia10.2
17hepatitis10.2
18hypokalemia10.2
19schimke immunoosseous dysplasia10.2SATB2, TBX22
20adult syndrome10.2SATB2, TP63
21liver carcinoma in situ10.1PSPC1, TBX22
22breast cancer10.1
23myelodysplastic syndrome10.1
24kernicterus10.1
25respiratory syncytial virus infectious disease10.1
26hereditary spherocytosis10.1
27oligospermia10.1
28metabolic acidosis10.1
29infertility10.1
30endometriosis10.1
31pancreatitis10.1
32purpura10.1
33sickle cell disease10.1
34rh-mod syndrome10.1
35null syndrome10.1
36central polydactyly of fingers10.1DLX5, SHFM1, TP63
37orofaciodigital syndrome10.1SATB2, TBX22, TP63
38split hand foot malformation 110.1DLX5, SHFM1, TP63
39myasthenic syndrome, congenital, 2a, slow-channel10.1SATB2, TBX22, TP63
40prostate cancer 110.0
41pancreatic cancer10.0
42cervical squamous cell carcinoma10.0
43herpes gestationis10.0
44oral submucous fibrosis10.0
45tick-borne encephalitis10.0
46blood group incompatibility10.0
47breast disease10.0
48disseminated intravascular coagulation10.0
49encephalitis10.0
50hemoglobinuria10.0

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 anhidrotic ectodermal dysplasia HP:0007476
31 decreased number of sweat glands HP:0007500
32 sparse hair HP:0008070
33 small, conical teeth HP:0200141

Drugs & Therapeutics for Rapp-Hodgkin Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22 TP63
2 Orofacial Cleft 822 TP63
3 Rapp-Hodgkin Ectodermal Dysplasia Syndrome24

Anatomical Context for Rapp-Hodgkin Syndrome

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MalaCards organs/tissues related to Rapp-Hodgkin Syndrome:

33
Skin, Tongue

Animal Models for Rapp-Hodgkin Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rapp-Hodgkin Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.8DLX5, SNCA, TP63
2MP:00053829.4DLX5, DLX6, SATB2, TBX22, TP63
3MP:00053808.7BCL10, DLX5, DLX6, SATB2, SCARB1, TP63
4MP:00053817.9DLX5, DLX6, ITCH, SATB2, SNCA, TBX22
5MP:00053887.9DLX5, DLX6, ITCH, PARK2, SATB2, TBX22
6MP:00107717.6DLX5, DLX6, ITCH, PARK2, SNCA, TP63
7MP:00053907.4DLX5, DLX6, PARK2, PPY, SATB2, SNCA
8MP:00053867.1DLX5, ITCH, PARK2, PPY, PSPC1, SNCA
9MP:00107686.3BCL10, DLX5, DLX6, ITCH, PARK2, SATB2

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:

67
id Symbol AA change Variation ID SNP ID
1TP63p.Arg318HisVAR_020873
2TP63p.Arg352GlyVAR_035127
3TP63p.Ile549ThrVAR_035128
4TP63p.Ser580ProVAR_035129

Clinvar genetic disease variations for Rapp-Hodgkin Syndrome:

5
id Gene Variation 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
6TP63NM_003722.4(TP63): c.1054A> G (p.Arg352Gly)single nucleotide variantPathogenicrs121908847GRCh37Chr 3, 189586430: 189586430
7TP63TP63, 1-BP DEL, 1783CdeletionPathogenic
8TP63TP63, 11-BP DUP, NT1716duplicationPathogenic

Expression for genes affiliated with Rapp-Hodgkin Syndrome

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

Pathways for genes affiliated with Rapp-Hodgkin Syndrome

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Pathways related to Rapp-Hodgkin Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0PARK2, SNCA
29.0PARK2, SNCA

GO Terms for genes affiliated with Rapp-Hodgkin Syndrome

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Cellular components related to Rapp-Hodgkin Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056346.0BCL10, DLX5, DLX6, ITCH, PARK2, SATB2
2cytoplasmGO:00057376.0BCL10, DLX5, ITCH, PARK2, PPY, PSPC1

Biological processes related to Rapp-Hodgkin Syndrome according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1head developmentGO:006032210.4DLX5, DLX6
2anatomical structure formation involved in morphogenesisGO:004864610.1DLX5, DLX6, TP63
3protein K29-linked ubiquitinationGO:00355199.9ITCH, PARK2
4embryonic limb morphogenesisGO:00303269.9DLX5, DLX6, TP63
5negative regulation of JNK cascadeGO:00463299.8ITCH, PARK2
6protein K63-linked ubiquitinationGO:00705349.8ITCH, PARK2
7epithelial cell differentiationGO:00308559.7DLX5, DLX6, TP63
8dopamine uptake involved in synaptic transmissionGO:00515839.6PARK2, SNCA
9palate developmentGO:00600219.5DLX5, DLX6, SATB2
10skeletal system developmentGO:00015019.4DLX5, DLX6, TP63
11regulation of neurotransmitter secretionGO:00469289.3PARK2, SNCA
12regulation of reactive oxygen species metabolic processGO:20003779.3PARK2, SNCA
13synaptic transmission, dopaminergicGO:00019639.2PARK2, SNCA
14regulation of dopamine secretionGO:00140599.1PARK2, SNCA
15dopamine metabolic processGO:00424179.1PARK2, SNCA

Molecular functions related to Rapp-Hodgkin Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phospholipase bindingGO:00432749.0PARK2, SNCA
2transcription regulatory region DNA bindingGO:00442128.8DLX5, SNCA, TP63

Sources for Rapp-Hodgkin Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet