MCID: RPP001
MIFTS: 52

Rapp-Hodgkin Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Rapp-Hodgkin Syndrome

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Aliases & Descriptions for Rapp-Hodgkin Syndrome:

Name: Rapp-Hodgkin Syndrome 50 11 46 23 13 68 48 66
Orofacial Cleft 8 50 23 68 25 12 66
Anhidrotic Ectodermal Dysplasia with Cleft Lip/palate 11 68
Rapp-Hodgkin Ectodermal Dysplasia 68 25
Ofc8 23 68
Rhs 46 68
Ectodermal Dysplasia, Anhidrotic, with Cleft Lip/palate 46
 
Non-Syndromic Cleft Lip with or Without Cleft Palate 8 68
Rapp-Hodgkin Ectodermal Dysplasia Syndrome 46
Ectodermal Dysplasia, Rapp-Hodgkin Type 68
Non-Syndromic Cleft Lip/palate 8 68
Non-Syndromic Orofacial Cleft 8 68
Edrh 68

Characteristics:

HPO:

62
rapp-hodgkin syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 129400
Disease Ontology11 DOID:0060330

Summaries for Rapp-Hodgkin Syndrome

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NIH Rare Diseases:46 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 anemia, hemolytic, rh-null, regulator type and rh isoimmunization, and has symptoms including pachyonychia, pachyonychia and hypospadias. An important gene associated with Rapp-Hodgkin Syndrome is TP63 (Tumor Protein P63), and among its related pathways are TP53 network and Alpha-synuclein signaling. Affiliated tissues include skin and tongue, and related mouse phenotypes are taste/olfaction and craniofacial.

Disease Ontology:11 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:68 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:50 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 142)
idRelated DiseaseScoreTop Affiliating Genes
1anemia, hemolytic, rh-null, regulator type12.2
2rh isoimmunization12.2
3rh-null regulator type related hemolytic anemia12.0
4rh-mod syndrome11.9
5retinohepatoendocrinologic syndrome11.6
6tricuspid valve disease10.9
7mitral valve disease10.9
8prostate cancer10.7
9hydrops fetalis10.6
10dermochondrocorneal dystrophy10.5TBX22, TP63
11intracranial aneurysm10.5DLX5, SHFM1
12facial paralysis10.5SATB2, TP63
13kernicterus10.4
14ectodermal dysplasia10.4
15lung cancer10.4
16limb-mammary syndrome10.3SATB2, TP63
17seckel syndrome10.3SATB2, TBX22, TP63
18mckusick type metaphyseal dysplasia10.3SATB2, TBX22, TP63
19myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.3SATB2, TBX22, TP63
20brachydactyly of toes10.3DLX5, SHFM1, TP63
21ectrodactyly cardiopathy dysmorphism10.3DLX5, SHFM1, TP63
22reticulohistiocytic granuloma10.2
23mucocutaneous leishmaniasis10.2PSPC1, TBX22
24neuroblastoma10.2
25prostatitis10.2
26yellow fever10.2TP63, TP73
27respiratory syncytial virus infectious disease10.1
28encephalopathy, neonatal severe10.1DLX5, DLX6, SCARB1
29hyperphalangy10.1DLX5, DLX6, SHFM1, TP63
30hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome10.1DLX5, DLX6, SHFM1, TP63
31cervical squamous cell carcinoma10.0
32leukemia10.0
33sickle cell disease10.0
34hepatitis9.9
35hypokalemia9.9
36elliptocytosis-19.9
37fetal and neonatal alloimmune thrombocytopenia9.9
38renal cell carcinoma, papillary9.9
39renal cell carcinoma9.9
40squamous cell carcinoma, head and neck9.9
41chromophobe renal cell carcinoma9.9
42tongue squamous cell carcinoma9.9
43myelodysplastic syndrome9.8
44hemolytic anemia9.8
45metabolic acidosis9.8
46hereditary spherocytosis9.8
47oligospermia9.8
48purpura9.8
49pancreatitis9.8
50toxoplasmosis9.8

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 32)
id Description Frequency HPO Source Accession
1 hypospadias HP:0000047
2 hypoplastic labia majora HP:0000059
3 narrow mouth HP:0000160
4 cleft palate HP:0000175
5 bifid uvula HP:0000193
6 cleft upper lip HP:0000204
7 velopharyngeal insufficiency HP:0000220
8 hypoplasia of the maxilla HP:0000327
9 high forehead HP:0000348
10 hearing impairment HP:0000365
11 recurrent otitis media HP:0000403
12 underdeveloped nasal alae HP:0000430
13 narrow nose HP:0000460
14 ptosis HP:0000508
15 hypodontia HP:0000668
16 microdontia HP:0000691
17 conical tooth HP:0000698
18 thin skin HP:0000963
19 hypohidrosis HP:0000966
20 absent lacrimal punctum HP:0001092
21 syndactyly HP:0001159
22 small nail HP:0001792
23 thick nail HP:0001805
24 fine hair HP:0002213
25 pili canaliculi HP:0002235
26 progressive alopecia HP:0002287
27 short stature HP:0004322
28 depressed nasal bridge HP:0005280
29 anhidrotic ectodermal dysplasia HP:0007476
30 decreased number of sweat glands HP:0007500
31 sparse hair HP:0008070
32 small, conical teeth HP:0200141

UMLS symptoms related to Rapp-Hodgkin Syndrome:


pachyonychia

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 Ectodermal Dysplasia Syndrome25
2 Orofacial Cleft 825 23 TP63
3 Rapp-Hodgkin Syndrome23 TP63

Anatomical Context for Rapp-Hodgkin Syndrome

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MalaCards organs/tissues related to Rapp-Hodgkin Syndrome:

34
Skin, Tongue

Animal Models for Rapp-Hodgkin Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rapp-Hodgkin Syndrome:

39 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.6DLX5, SNCA, TP63
2MP:00053829.2DLX5, DLX6, SATB2, TBX22, TP63, TP73
3MP:00053808.5BCL10, DLX5, DLX6, SATB2, SCARB1, TP63
4MP:00053818.1DLX5, DLX6, SATB2, SNCA, TBX22, TP63
5MP:00053887.9DLX5, DLX6, ITCH, PARK2, SATB2, TBX22
6MP:00053857.3DLX5, PARK2, SATB2, SCARB1, SNCA, TP63
7MP:00053847.2BCL10, DLX5, ITCH, PARK2, SNCA, TBX22
8MP:00053906.8DLX5, DLX6, PARK2, PPY, SATB2, SNCA
9MP:00053786.0DLX5, DLX6, ITCH, PARK2, PPY, SATB2
10MP:00107685.9BCL10, DLX5, DLX6, ITCH, PARK2, SATB2

Publications for Rapp-Hodgkin Syndrome

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Articles related to Rapp-Hodgkin Syndrome:

(show all 25)
idTitleAuthorsYear
1
Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia. (27080974)
2016
2
Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome. (23662261)
2013
3
Cicatricial external auditory canal stenosis caused by ectodermal dysplasia: Rapp-Hodgkin syndrome. (23780599)
2013
4
Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway. (22342398)
2012
5
Prosthetic rehabilitation of a child with Rapp-Hodgkin syndrome. (22828770)
2012
6
Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome. (22759387)
2012
7
Rapp-Hodgkin syndrome: clinical and dental findings. (19953814)
2009
8
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
9
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome. (16824815)
2006
10
Rapp-Hodgkin syndrome and the tail of p63. (15725251)
2005
11
Rapp-Hodgkin syndrome: a review of the aspects of hair and hair color. (16198808)
2005
12
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. (15200513)
2004
13
Rapp-Hodgkin syndrome. (15748593)
2004
14
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. (12939657)
2003
15
Mixed clefting type in Rapp-Hodgkin syndrome. (11920831)
2002
16
Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: newly recognized findings. (9779799)
1998
17
What syndrome is this? Rapp-Hodgkin syndrome. (9144704)
1997
18
Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity? (8305327)
1994
19
Cephalometric analysis of Rapp-Hodgkin syndrome. (7837251)
1994
20
Rapp-Hodgkin syndrome with pili canaliculi. (8493170)
1993
21
The Rapp-Hodgkin syndrome. (2012121)
1991
22
Rapp-Hodgkin syndrome. (1859572)
1991
23
Rapp-Hodgkin syndrome: report of a Brazilian family. (2389804)
1990
24
Rapp-Hodgkin syndrome: an ectodermal dysplasia involving the teeth, hair, nails, and palate. Report of a case and review of the literature. (2643072)
1989
25
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:

68
id Symbol AA change Variation ID SNP ID
1TP63p.Arg318HisVAR_020873rs121908840
2TP63p.Arg352GlyVAR_035127rs121908847
3TP63p.Ile549ThrVAR_035128rs121908845
4TP63p.Ser580ProVAR_035129rs121908846

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
6TP63TP63, 1-BP DEL, 1783CdeletionPathogenic
7TP63TP63, 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 pathwaysScoreTop Affiliating Genes
19.9TP63, TP73
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:00056346.1BCL10, DLX5, DLX6, ITCH, PARK2, PSPC1
2cytoplasmGO:00057375.4BCL10, DLX5, ITCH, PARK2, PPY, PSPC1

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.5TP63, TP73
2positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathwayGO:190074010.5TP63, TP73
3mitotic G1 DNA damage checkpointGO:003157110.5TP63, TP73
4response to X-rayGO:001016510.5TP63, TP73
5response to gamma radiationGO:001033210.4TP63, TP73
6intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:004277110.4TP63, TP73
7head developmentGO:006032210.3DLX5, DLX6
8anatomical structure formation involved in morphogenesisGO:004864610.1DLX5, DLX6, TP63
9embryonic limb morphogenesisGO:003032610.1DLX5, DLX6, TP63
10skeletal system developmentGO:000150110.1DLX5, DLX6, TP63
11palate developmentGO:006002110.1DLX5, DLX6, SATB2
12epithelial cell differentiationGO:003085510.0DLX5, DLX6, TP63
13protein K29-linked ubiquitinationGO:003551910.0ITCH, PARK2
14protein K63-linked ubiquitinationGO:007053410.0ITCH, PARK2
15negative regulation of JNK cascadeGO:00463299.9ITCH, PARK2
16dopamine uptake involved in synaptic transmissionGO:00515839.7PARK2, SNCA
17regulation of reactive oxygen species metabolic processGO:20003779.5PARK2, SNCA
18protein destabilizationGO:00316489.5PARK2, SNCA
19regulation of dopamine secretionGO:00140599.2PARK2, SNCA
20synaptic transmission, dopaminergicGO:00019639.0PARK2, SNCA
21negative regulation of neuron apoptotic processGO:00435249.0PARK2, SNCA, TP73
22regulation of neurotransmitter secretionGO:00469288.9PARK2, SNCA
23positive regulation of transcription from RNA polymerase II promoterGO:00459448.8DLX5, PARK2, SATB2, TP63, TP73
24dopamine metabolic processGO:00424178.7PARK2, SNCA
25negative regulation of transcription from RNA polymerase II promoterGO:00001228.0PARK2, SATB2, SNCA, TBX22, TP63, TP73

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

idNameGO IDScoreTop Affiliating Genes
1phospholipase bindingGO:00432749.4PARK2, SNCA
2sequence-specific DNA bindingGO:00435659.4DLX6, SATB2, TP63, TP73
3transcription regulatory region DNA bindingGO:00442129.1DLX5, SNCA, TP63, TP73
4transcription factor activity, sequence-specific DNA bindingGO:00037008.8DLX6, PARK2, TBX22, TP63, TP73
5identical protein bindingGO:00428027.7BCL10, PARK2, SNCA, TP63, TP73

Sources for Rapp-Hodgkin Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
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44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet