OFC8
MCID: RPP001
MIFTS: 48

Rapp-Hodgkin Syndrome (OFC8) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Rapp-Hodgkin Syndrome

Aliases & Descriptions for Rapp-Hodgkin Syndrome:

Name: Rapp-Hodgkin Syndrome 54 12 50 24 66 52 14 69
Orofacial Cleft 8 54 24 66 29 13 69
Anhidrotic Ectodermal Dysplasia with Cleft Lip/palate 12 66
Rapp-Hodgkin Ectodermal Dysplasia 66 29
Ofc8 24 66
Rhs 50 66
Ectodermal Dysplasia, Anhidrotic, with Cleft Lip/palate 50
Non-Syndromic Cleft Lip with or Without Cleft Palate 8 66
Rapp-Hodgkin Ectodermal Dysplasia Syndrome 50
Ectodermal Dysplasia, Rapp-Hodgkin Type 66
Non-Syndromic Cleft Lip/palate 8 66
Non-Syndromic Orofacial Cleft 8 66
Edrh 66

Characteristics:

HPO:

32
rapp-hodgkin syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 129400
Disease Ontology 12 DOID:0060330

Summaries for Rapp-Hodgkin Syndrome

NIH Rare Diseases : 50 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 amenorrhea and anemia, hemolytic, rh-null, regulator type, and has symptoms including ptosis, hearing impairment and depressed nasal bridge. An important gene associated with Rapp-Hodgkin Syndrome is TP63 (Tumor Protein P63), and among its related pathways/superpathways is TP53 Network. Affiliated tissues include skin and tongue, and related phenotypes are cardiovascular system and craniofacial

Disease Ontology : 12 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 : 66 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: 129400

Related Diseases for Rapp-Hodgkin Syndrome

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

(show top 50) (show all 135)
id Related Disease Score Top Affiliating Genes
1 amenorrhea 29.4 SATB2 TP63
2 anemia, hemolytic, rh-null, regulator type 12.2
3 rh isoimmunization 12.1
4 rh-null regulator type related hemolytic anemia 11.9
5 retinohepatoendocrinologic syndrome 11.8
6 rh-mod syndrome 11.8
7 hydrops fetalis 11.2
8 reticulohistiocytic granuloma 11.1
9 kernicterus 11.1
10 fetal and neonatal alloimmune thrombocytopenia 10.8
11 elliptocytosis-1 10.8
12 tricuspid valve disease 10.8
13 mitral valve disease 10.8
14 prostate cancer 10.6
15 ectodermal dysplasia 10.2
16 elastosis perforans serpiginosa 10.2 TBX22 TP63
17 gaze palsy, horizontal, with progressive scoliosis 10.2 SATB2 TP63
18 differentiated thyroid carcinoma 10.1 SATB2 TP63
19 hypomyelinating leukodystrophy 13 10.1 PSPC1 SATB2 TP63
20 adult syndrome 10.1 SATB2 TP63 TP73
21 hereditary lymphedema 10.1 SATB2 TBX22 TP63
22 amebiasis 10.1 PSPC1 TBX22
23 fibrous dysplasia 10.1 SATB2 TBX22 TP63
24 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 10.1 SATB2 TBX22 TP63
25 prostatitis 10.1
26 chronic ethmoiditis 10.1 SATB2 TBX22 TP63
27 tongue disease 10.0 DLX5 SEM1
28 congenital absence of both lower leg and foot 9.9 DLX5 SEM1 TP63
29 neuroblastoma 9.9
30 spondylocostal dysostosis 3 9.9 DLX5 SEM1 TP63
31 leukemia 9.9
32 brain oligodendroglioma 9.9 SNCA TP73
33 angiocentric glioma 9.8 DLX5 DLX6 SEM1 TP63
34 congenital absence/hypoplasia of thumb 9.8 DLX5 DLX6 SEM1 TP63
35 sickle cell disease 9.8
36 renal cell carcinoma 9.8
37 respiratory syncytial virus infectious disease 9.8
38 renal cell carcinoma, papillary 9.8
39 chromophobe renal cell carcinoma 9.8
40 hypokalemia 9.8
41 hepatitis 9.8
42 metabolic acidosis 9.7
43 null syndrome 9.7
44 pancreatitis 9.7
45 hemolytic anemia 9.7
46 oligospermia 9.7
47 endometriosis 9.7
48 myelodysplastic syndrome 9.7
49 purpura 9.7
50 hereditary spherocytosis 9.7

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



Diseases related to Rapp-Hodgkin Syndrome

Symptoms & Phenotypes for Rapp-Hodgkin Syndrome

Symptoms by clinical synopsis from OMIM:

129400

Clinical features from OMIM:

129400

Human phenotypes related to Rapp-Hodgkin Syndrome:

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

UMLS symptoms related to Rapp-Hodgkin Syndrome:


pachyonychia

MGI Mouse Phenotypes related to Rapp-Hodgkin Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 SCARB1 SNCA TP63 TP73 DLX5 ITCH
2 craniofacial MP:0005382 9.98 DLX5 DLX6 ITCH SATB2 TBX22 TP63
3 growth/size/body region MP:0005378 9.97 DLX5 DLX6 ITCH PPY SATB2 SNCA
4 mortality/aging MP:0010768 9.96 BCL10 DLX5 DLX6 ITCH SATB2 SCARB1
5 digestive/alimentary MP:0005381 9.95 DLX5 DLX6 SATB2 SNCA TBX22 TP63
6 embryo MP:0005380 9.91 BCL10 DLX5 DLX6 SATB2 SCARB1 TP63
7 respiratory system MP:0005388 9.7 DLX5 DLX6 ITCH SATB2 TBX22 TP63
8 skeleton MP:0005390 9.61 TP73 DLX5 DLX6 ITCH PPY SATB2
9 taste/olfaction MP:0005394 8.8 DLX5 SNCA TP63

Drugs & Therapeutics for Rapp-Hodgkin Syndrome

Search Clinical Trials , NIH Clinical Center for Rapp-Hodgkin Syndrome

Genetic Tests for Rapp-Hodgkin Syndrome

Genetic tests related to Rapp-Hodgkin Syndrome:

id Genetic test Affiliating Genes
1 Rapp-Hodgkin Ectodermal Dysplasia Syndrome 29
2 Orofacial Cleft 8 29 24 TP63
3 Rapp-Hodgkin Syndrome 24 TP63

Anatomical Context for Rapp-Hodgkin Syndrome

MalaCards organs/tissues related to Rapp-Hodgkin Syndrome:

39
Skin, Tongue

Publications for Rapp-Hodgkin Syndrome

Articles related to Rapp-Hodgkin Syndrome:

(show all 25)
id Title Authors Year
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
Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome. ( 22759387 )
2012
5
Prosthetic rehabilitation of a child with Rapp-Hodgkin syndrome. ( 22828770 )
2012
6
Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway. ( 22342398 )
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: a review of the aspects of hair and hair color. ( 16198808 )
2005
11
Rapp-Hodgkin syndrome and the tail of p63. ( 15725251 )
2005
12
Rapp-Hodgkin syndrome. ( 15748593 )
2004
13
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. ( 15200513 )
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
Rapp-Hodgkin syndrome. ( 1859572 )
1991
22
The Rapp-Hodgkin syndrome. ( 2012121 )
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

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

66
id Symbol AA change Variation ID SNP ID
1 TP63 p.Arg318His VAR_020873 rs121908840
2 TP63 p.Arg352Gly VAR_035127 rs121908847
3 TP63 p.Ile549Thr VAR_035128 rs121908845
4 TP63 p.Ser580Pro VAR_035129 rs121908846

ClinVar genetic disease variations for Rapp-Hodgkin Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TP63 NM_003722.4(TP63): c.953G> A (p.Arg318His) single nucleotide variant Pathogenic rs121908840 GRCh37 Chromosome 3, 189585692: 189585692
2 TP63 TP63, 1-BP DEL, 1709A deletion Pathogenic
3 TP63 TP63, 1-BP DEL, 1859A deletion Pathogenic
4 TP63 NM_003722.4(TP63): c.1646T> C (p.Ile549Thr) single nucleotide variant Pathogenic rs121908845 GRCh37 Chromosome 3, 189607267: 189607267
5 TP63 NM_003722.4(TP63): c.1738T> C (p.Ser580Pro) single nucleotide variant Pathogenic rs121908846 GRCh37 Chromosome 3, 189608663: 189608663
6 TP63 NM_003722.4(TP63): c.1054A> G (p.Arg352Gly) single nucleotide variant Pathogenic rs121908847 GRCh37 Chromosome 3, 189586430: 189586430
7 TP63 TP63, 1-BP DEL, 1783C deletion Pathogenic
8 TP63 TP63, 11-BP DUP, NT1716 duplication Pathogenic

Expression for Rapp-Hodgkin Syndrome

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

Pathways for Rapp-Hodgkin Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
9.97 TP63 TP73

GO Terms for Rapp-Hodgkin Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.65 BCL10 DLX5 DLX6 ITCH PSPC1 SATB2
2 transcription factor complex GO:0005667 8.8 SATB2 TP63 TP73

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.97 DLX5 DLX6 SATB2 TBX22 TP63
2 positive regulation of transcription, DNA-templated GO:0045893 9.88 BCL10 DLX5 TP63 TP73
3 transcription from RNA polymerase II promoter GO:0006366 9.87 DLX5 SATB2 TP63 TP73
4 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.8 SATB2 SNCA TBX22 TP63 TP73
5 apoptotic process GO:0006915 9.77 BCL10 ITCH SNCA TP63 TP73
6 skeletal system development GO:0001501 9.67 DLX5 DLX6 TP63
7 protein tetramerization GO:0051262 9.55 TP63 TP73
8 response to gamma radiation GO:0010332 9.54 TP63 TP73
9 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 9.52 TP63 TP73
10 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.51 TP63 TP73
11 response to X-ray GO:0010165 9.48 TP63 TP73
12 head development GO:0060322 9.46 DLX5 DLX6
13 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.43 TP63 TP73
14 palate development GO:0060021 9.43 DLX5 DLX6 SATB2
15 epithelial cell differentiation GO:0030855 9.33 DLX5 DLX6 TP63
16 mitotic G1 DNA damage checkpoint GO:0031571 9.32 TP63 TP73
17 embryonic limb morphogenesis GO:0030326 9.13 DLX5 DLX6 TP63
18 anatomical structure formation involved in morphogenesis GO:0048646 8.8 DLX5 DLX6 TP63
19 regulation of transcription, DNA-templated GO:0006355 10.1 DLX5 DLX6 PSPC1 SATB2 TBX22 TP63

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

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.65 DLX5 DLX6 SATB2 TP63 TP73
2 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.46 DLX5 SATB2 TP63 TP73
3 transcription regulatory region DNA binding GO:0044212 9.26 DLX5 SNCA TP63 TP73
4 MDM2/MDM4 family protein binding GO:0097371 8.62 TP63 TP73

Sources for Rapp-Hodgkin Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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