MCID: RPP001
MIFTS: 48

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 52 11 48 24 70 50 13 68
Orofacial Cleft 8 52 24 70 27 12 68
Anhidrotic Ectodermal Dysplasia with Cleft Lip/palate 11 70
Rapp-Hodgkin Ectodermal Dysplasia 70 27
Ofc8 24 70
Rhs 48 70
Ectodermal Dysplasia, Anhidrotic, with Cleft Lip/palate 48
 
Non-Syndromic Cleft Lip with or Without Cleft Palate 8 70
Rapp-Hodgkin Ectodermal Dysplasia Syndrome 48
Ectodermal Dysplasia, Rapp-Hodgkin Type 70
Non-Syndromic Cleft Lip/palate 8 70
Non-Syndromic Orofacial Cleft 8 70
Edrh 70

Characteristics:

HPO:

64
rapp-hodgkin syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 129400
Disease Ontology11 DOID:0060330

Summaries for Rapp-Hodgkin Syndrome

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NIH Rare Diseases:48 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 hypospadias, hypoplastic labia majora and narrow mouth. An important gene associated with Rapp-Hodgkin Syndrome is TP63 (Tumor Protein P63), and among its related pathways is TP53 network. Affiliated tissues include skin and tongue, and related mouse phenotypes are craniofacial and taste/olfaction.

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:70 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:52 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 127)
idRelated DiseaseScoreTop Affiliating Genes
1anemia, hemolytic, rh-null, regulator type12.2
2rh isoimmunization12.1
3rh-null regulator type related hemolytic anemia11.9
4retinohepatoendocrinologic syndrome11.8
5rh-mod syndrome11.8
6elliptocytosis-110.8
7tricuspid valve disease10.8
8mitral valve disease10.8
9prostate cancer10.6
10facial paralysis10.4SATB2, TP63
11dermochondrocorneal dystrophy10.4TBX22, TP63
12brachydactyly of toes10.3DLX5, TP63
13yellow fever10.3TP63, TP73
14mucocutaneous leishmaniasis10.3PSPC1, TBX22
15hyperphalangy10.3DLX5, DLX6, TP63
16hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome10.2DLX5, DLX6, TP63
17limb-mammary syndrome10.2SATB2, TP63
18ectodermal dysplasia10.2
19auriculocondylar syndrome 310.2TBX22, TP63
20myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.2SATB2, TBX22, TP63
21thanatophoric dysplasia, type ii10.1SATB2, TP63
22prostatitis10.1
23encephalopathy, neonatal severe10.0DLX5, DLX6, SCARB1
24spinal cord glioma10.0SNCA, TP73
25ectrodactyly cardiopathy dysmorphism10.0DLX5, TP63
26neuroblastoma9.9
27leukemia9.9
28sickle cell disease9.8
29renal cell carcinoma, papillary9.8
30renal cell carcinoma9.8
31chromophobe renal cell carcinoma9.8
32respiratory syncytial virus infectious disease9.8
33hepatitis9.8
34hypokalemia9.8
35myelodysplastic syndrome9.7
36hemolytic anemia9.7
37metabolic acidosis9.7
38hereditary spherocytosis9.7
39oligospermia9.7
40purpura9.7
41pancreatitis9.7
42toxoplasmosis9.7
43hydrops fetalis9.7
44null syndrome9.7
45breast cancer9.6
46pancreatic cancer9.6
47tick-borne encephalitis9.6
48disseminated intravascular coagulation9.6
49herpes gestationis9.6
50pneumothorax9.6

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



Diseases related to rapp-hodgkin syndrome

Symptoms & Phenotypes for Rapp-Hodgkin Syndrome

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Symptoms by clinical synopsis from OMIM:

129400

Clinical features from OMIM:

129400

Human phenotypes related to Rapp-Hodgkin Syndrome:

 64 (show all 32)
id Description HPO Frequency HPO Source Accession
1 hypospadias64 HP:0000047
2 hypoplastic labia majora64 HP:0000059
3 narrow mouth64 HP:0000160
4 cleft palate64 HP:0000175
5 bifid uvula64 HP:0000193
6 cleft upper lip64 HP:0000204
7 velopharyngeal insufficiency64 HP:0000220
8 hypoplasia of the maxilla64 HP:0000327
9 high forehead64 HP:0000348
10 hearing impairment64 HP:0000365
11 recurrent otitis media64 HP:0000403
12 underdeveloped nasal alae64 HP:0000430
13 narrow nose64 HP:0000460
14 ptosis64 HP:0000508
15 hypodontia64 HP:0000668
16 microdontia64 HP:0000691
17 conical tooth64 HP:0000698
18 thin skin64 HP:0000963
19 hypohidrosis64 HP:0000966
20 absent lacrimal punctum64 HP:0001092
21 syndactyly64 HP:0001159
22 small nail64 HP:0001792
23 thick nail64 HP:0001805
24 fine hair64 HP:0002213
25 pili canaliculi64 HP:0002235
26 progressive alopecia64 HP:0002287
27 short stature64 HP:0004322
28 depressed nasal bridge64 HP:0005280
29 anhidrotic ectodermal dysplasia64 HP:0007476
30 decreased number of sweat glands64 HP:0007500
31 sparse hair64 HP:0008070
32 small, conical teeth64 HP:0200141

UMLS symptoms related to Rapp-Hodgkin Syndrome:


pachyonychia

MGI Mouse Phenotypes related to Rapp-Hodgkin Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.5DLX5, DLX6, SATB2, TBX22, TP63, TP73
2MP:00053949.3DLX5, SNCA, TP63
3MP:00053809.0BCL10, DLX5, DLX6, SATB2, SCARB1, TP63
4MP:00053888.9DLX5, DLX6, ITCH, SATB2, TBX22, TP63
5MP:00053818.9DLX5, DLX6, SATB2, SNCA, TBX22, TP63
6MP:00053908.1DLX5, DLX6, PPY, SATB2, SNCA, TBX22
7MP:00053787.8DLX5, DLX6, ITCH, PPY, SATB2, SNCA
8MP:00107687.4BCL10, DLX5, DLX6, ITCH, SATB2, SCARB1

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 Syndrome27
2 Orofacial Cleft 827 24 TP63
3 Rapp-Hodgkin Syndrome24 TP63

Anatomical Context for Rapp-Hodgkin Syndrome

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MalaCards organs/tissues related to Rapp-Hodgkin Syndrome:

36
Skin, Tongue

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:

70
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)SNVPathogenicrs121908840GRCh37Chr 3, 189585692: 189585692
2TP63TP63, 1-BP DEL, 1709AdeletionPathogenicChr na, -1: -1
3TP63TP63, 1-BP DEL, 1859AdeletionPathogenicChr na, -1: -1
4TP63NM_003722.4(TP63): c.1646T> C (p.Ile549Thr)SNVPathogenicrs121908845GRCh37Chr 3, 189607267: 189607267
5TP63NM_003722.4(TP63): c.1738T> C (p.Ser580Pro)SNVPathogenicrs121908846GRCh37Chr 3, 189608663: 189608663
6TP63NM_003722.4(TP63): c.1054A> G (p.Arg352Gly)SNVPathogenicrs121908847GRCh37Chr 3, 189586430: 189586430
7TP63TP63, 1-BP DEL, 1783CdeletionPathogenicChr na, -1: -1
8TP63TP63, 11-BP DUP, NT1716duplicationPathogenicChr na, -1: -1

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
1
Show member pathways
9.8TP63, TP73

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
1transcription factor complexGO:00056679.5SATB2, TP63, TP73
2nucleusGO:00056347.4BCL10, DLX5, DLX6, ITCH, PSPC1, SATB2
3cytoplasmGO:00057377.2BCL10, DLX5, ITCH, PPY, PSPC1, SATB2

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1head developmentGO:006032210.7DLX5, DLX6
2cellular response to UVGO:003464410.6TP63, TP73
3DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.6TP63, TP73
4intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:004277110.6TP63, TP73
5mitotic G1 DNA damage checkpointGO:003157110.6TP63, TP73
6positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathwayGO:190074010.5TP63, TP73
7response to gamma radiationGO:001033210.4TP63, TP73
8response to X-rayGO:001016510.4TP63, TP73
9anatomical structure formation involved in morphogenesisGO:004864610.4DLX5, DLX6, TP63
10embryonic limb morphogenesisGO:003032610.4DLX5, DLX6, TP63
11epithelial cell differentiationGO:003085510.4DLX5, DLX6, TP63
12palate developmentGO:006002110.3DLX5, DLX6, SATB2
13positive regulation of transcription, DNA-templatedGO:00458939.7BCL10, DLX5, TP63, TP73
14skeletal system developmentGO:00015019.7DLX5, DLX6, TP63
15negative regulation of transcription from RNA polymerase II promoterGO:00001229.3SATB2, SNCA, TBX22, TP63, TP73

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435659.9DLX6, SATB2, TP63, TP73
2transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.6DLX5, TP63, TP73
3transcription regulatory region DNA bindingGO:00442129.5DLX5, SNCA, TP63, TP73

Sources for Rapp-Hodgkin Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet