MCID: RPP001
MIFTS: 49

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 49 10 45 22 47 12 67 65
Orofacial Cleft 8 49 11 22 67 24 65
Anhidrotic Ectodermal Dysplasia with Cleft Lip/palate 10 67
Rapp-Hodgkin Ectodermal Dysplasia 67 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
Rapp-Hodgkin Ectodermal Dysplasia Syndrome 45
Ectodermal Dysplasia, Rapp-Hodgkin Type 67
Non-Syndromic Cleft Lip/palate 8 67
Non-Syndromic Orofacial Cleft 8 67
Edrh 67

Characteristics:

HPO:

61
rapp-hodgkin syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 129400
Disease Ontology10 DOID:0060330
UMLS65 C1785148, C1851878

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 deficiency syndrome and anemia, hemolytic, rh-null, regulator type, and has symptoms including small, conical teeth, sparse hair and decreased number of sweat glands. 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, liver and testes, 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 59)
idRelated DiseaseScoreTop Affiliating Genes
1rh deficiency syndrome12.6
2anemia, hemolytic, rh-null, regulator type12.6
3rh isoimmunization12.4
4rh-null regulator type related hemolytic anemia12.4
5rh-mod syndrome12.3
6tricuspid valve disease11.3
7mitral valve disease11.3
8prostatitis10.5
9nonsyndromic congenital nail disorder 210.3TBX22, TP63
10visual pathway disease10.3SATB2, TP63
11prostate cancer10.3
12pulmonary hypertension10.3
13osteopetrosis10.3
14sinusitis10.3
15thrombocytopenia10.3
16cutaneous lupus erythematosus10.3
17paraganglioma10.3
18persistent hyperplastic primary vitreous10.3
19osteomyelitis10.3
20frontal sinusitis10.3
21myopia10.3
22leiomyoma10.3
23tuberous sclerosis10.3
24melanoma10.3
25chondroma10.3
26proctitis10.3
27ischemia10.3
28aortic aneurysm10.3
29tuberculosis10.3
30oral tuberculosis10.3
31erdheim-chester disease10.3
32influenza10.3
33lupus erythematosus10.3
34haemophilus influenzae10.3
35koro10.3
36neurosyphilis10.3
37tardive dyskinesia10.3
38ulcerative proctitis10.3
39aneurysm10.3
40schimke immunoosseous dysplasia10.2SATB2, TBX22
41limb-mammary syndrome10.2SATB2, TP63
42variola minor10.2PSPC1, TBX22
43central polydactyly of fingers10.2DLX5, SHFM1, TP63
44spondylocostal dysostosis10.2SATB2, TBX22, TP63
45split hand foot malformation 110.2DLX5, SHFM1, TP63
46dysbaric osteonecrosis10.2SATB2, TBX22, TP63
47auriculocondylar syndrome 310.2TBX22, TP63
48myasthenic syndrome, congenital, 2a, slow-channel10.2SATB2, TBX22, TP63
49mental retardation, x-linked, syndromic 1310.1DLX5, DLX6, SCARB1
50congenital absence/hypoplasia of fingers excluding thumb10.0DLX5, DLX6, SHFM1, TP63

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

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

Anatomical Context for Rapp-Hodgkin Syndrome

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MalaCards organs/tissues related to Rapp-Hodgkin Syndrome:

33
Skin, Liver, Testes, Endothelial

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:00053949.5DLX5, SNCA, TP63
2MP:00053829.2DLX5, DLX6, SATB2, TBX22, TP63
3MP:00053808.9BCL10, DLX5, DLX6, SATB2, SCARB1, TP63
4MP:00053818.5DLX5, DLX6, SATB2, SNCA, TBX22, TP63
5MP:00053888.2DLX5, DLX6, ITCH, PARK2, SATB2, TBX22
6MP:00107718.1DLX5, DLX6, ITCH, PARK2, SNCA, TP63
7MP:00053907.0DLX5, DLX6, PARK2, PPY, SATB2, SNCA
8MP:00053786.5DLX5, DLX6, ITCH, PARK2, PPY, SATB2
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
Waardenburg syndrome type 4: Report of two new cases caused by SOX10 mutations in Spain. (24311220)
2014
2
The phenotypic expression of inflammatory bowel disease in patients with primary sclerosing cholangitis differs in the distribution of colitis. (23670229)
2013
3
Impact of progesterone receptor semiquantitative immunohistochemical result on Oncotype DX recurrence score: a quality assurance study of 1074 cases. (23060300)
2013
4
Human CD1a deficiency is common and genetically regulated. (23858036)
2013
5
Triggering of cardiac arrhythmic events in long QT syndrome: lessons from funny bunnies. (22422115)
2012
6
Does low molecular weight heparin influence the triple test result in pregnant women with thrombophilia? (22675844)
2012
7
Effect of ASP2151, a herpesvirus helicase-primase inhibitor, in a guinea pig model of genital herpes. (21869749)
2011
8
Increased plasma apoM levels in the patients suffered from hepatocellular carcinoma and other chronic liver diseases. (18652652)
2008
9
Regulation of ovarian UT-OC-2 carcinoma cells by cytokines: effects on cell proliferation, activation of transcription factors and apoptosis. (18720042)
2008
10
Increased serotonin transporter availability in the brainstem of migraineurs. (17351723)
2007
11
Oligodendroglial-specific transcriptional factor SOX10 is ubiquitously expressed in human gliomas. (16205963)
2006
12
Additional genetic susceptibility for rheumatoid arthritis telomeric of the DRB1 locus. (15022317)
2004
13
Characterization of human ribosomal protein S3 binding to 7,8-dihydro-8-oxoguanine and abasic sites by surface plasmon resonance. (14706345)
2004
14
The bromodomain mediates transcriptional intermediary factor 1alpha -nucleosome interactions. (12384511)
2002
15
Vascular endothelial growth factor induces IP-10 chemokine expression. (11890674)
2002
16
Early carotid endarterectomy for critical carotid artery stenosis after thrombolysis therapy in acute ischemic stroke in the middle cerebral artery. (11546899)
2001
17
Albright's hereditary osteodystrophy: historical credit. (11428358)
2000
18
Caspases are the main executioners of Fas-mediated apoptosis, irrespective of the ceramide signalling pathway. (10200470)
1998
19
Neonatal herpes simplex infection: keys to early diagnosis. (7576888)
1995
20
Gliomatosis cerebri: a clinical, radiological and pathological report of four cases. (1650563)
1991
21
A prevalence study of denture stomatitis in subjects with diabetes mellitus or elevated plasma glucose levels. (3462635)
1986
22
Hypophosphatasia congenita letalis. (7094944)
1982
23
Surgical treatment of coronary arteriosclerosis by the saphenous vein graft technique. Critical analysis. (5095936)
1971
24
Bilateral feline embryonal sarcoma. (13823299)
1960

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
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
19.0PARK2, SNCA
29.0PARK2, SNCA

GO Terms for genes affiliated with Rapp-Hodgkin Syndrome

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1epithelial cell differentiationGO:003085510.0DLX6, TP63
2protein K29-linked ubiquitinationGO:00355199.8ITCH, PARK2
3anatomical structure formation involved in morphogenesisGO:00486469.6DLX5, DLX6, TP63
4regulation of transcription, DNA-templatedGO:00063559.5DLX5, DLX6, SATB2, TP63
5dopamine uptake involved in synaptic transmissionGO:00515839.5PARK2, SNCA
6regulation of neurotransmitter secretionGO:00469289.5PARK2, SNCA
7embryonic limb morphogenesisGO:00303269.4DLX5, DLX6, TP63
8positive regulation of transcription from RNA polymerase II promoterGO:00459449.1DLX5, PARK2, SATB2, TP63
9synaptic transmission, dopaminergicGO:00019639.0PARK2, SNCA

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