EDRH
MCID: RPP001
MIFTS: 50

Rapp-Hodgkin Syndrome (EDRH)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Rapp-Hodgkin Syndrome

MalaCards integrated aliases for Rapp-Hodgkin Syndrome:

Name: Rapp-Hodgkin Syndrome 57 12 53 75 55 15 40 73
Orofacial Cleft 8 57 75 29 13 6 73
Rapp-Hodgkin Ectodermal Dysplasia Syndrome 53 29 6
Rhs 57 53 75
Ectodermal Dysplasia, Anhidrotic, with Cleft Lip/palate 57 53
Anhidrotic Ectodermal Dysplasia with Cleft Lip/palate 12 75
Non-Syndromic Cleft Lip with or Without Cleft Palate 8 75
Ectodermal Dysplasia, Rapp-Hodgkin Type 75
Rapp-Hodgkin Ectodermal Dysplasia 75
Non-Syndromic Cleft Lip/palate 8 75
Non-Syndromic Orofacial Cleft 8 75
Edrh 75
Ofc8 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
hyperthermia in early childhood
allelic to adult syndrome , shfm4 , hay-wells syndrome , and limb-mammary syndrome


HPO:

32
rapp-hodgkin syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Rapp-Hodgkin Syndrome

NIH Rare Diseases : 53 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 dominanttrait 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.

MalaCards based summary : Rapp-Hodgkin Syndrome, also known as orofacial cleft 8, is related to rh-null, regulator type and rh-null, amorph type, and has symptoms including pachyonychia 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 ptosis and hearing impairment

UniProtKB/Swiss-Prot : 75 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.

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.

Wikipedia : 76 Rapp–Hodgkin syndrome was formerly thought to be a unique autosomal dominant disorder due to a P63 gene... more...

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 171)
# Related Disease Score Top Affiliating Genes
1 rh-null, regulator type 12.4
2 rh-null, amorph type 12.3
3 rh isoimmunization 12.2
4 retinohepatoendocrinologic syndrome 12.1
5 ankyloblepharon-ectodermal defects-cleft lip/palate 11.4
6 hydrops fetalis 11.3
7 reticulohistiocytic granuloma 11.2
8 kernicterus 11.2
9 congenital disorder of glycosylation, type iic 11.0
10 stomatocytosis i 11.0
11 tricuspid valve disease 10.9
12 mitral valve disease 10.9
13 blood group--kell system 10.9
14 ramsay hunt syndrome i 10.9
15 prostate cancer 10.7
16 nail disorder, nonsyndromic congenital, 1 10.4 TBX22 TP63
17 cleft lip/palate-ectodermal dysplasia syndrome 10.4 SATB2 TP63
18 paranoid personality disorder 10.4 DLX5 SEM1
19 ectodermal dysplasia 10.3
20 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.2 PSPC1 SATB2 TP63
21 prostatitis 10.2
22 hard palate cancer 10.1 PSPC1 TBX22
23 split-hand/foot malformation 1 10.1 DLX5 SEM1 TP63
24 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 10.1 DLX5 DLX6 SEM1
25 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.1 SATB2 TP63 TP73
26 split-hand/foot malformation 6 10.1 DLX5 SEM1 TP63
27 neuroblastoma 10.1
28 split hand-foot malformation 10.1 DLX5 SEM1 TP63
29 ulcerative stomatitis 10.1 TP63 TP73
30 cleft palate, isolated 10.0 SATB2 TBX22 TP63
31 palmoplantar keratosis 10.0
32 leukemia 9.9
33 placenta disease 9.9
34 chromophobe renal cell carcinoma 9.9
35 respiratory syncytial virus infectious disease 9.9
36 adult syndrome 9.9 SATB2 TP63
37 breast cancer 9.9
38 purpura 9.9
39 sickle cell disease 9.9
40 isolated split hand-split foot malformation 9.9 DLX5 DLX6 SEM1 TP63
41 myelodysplastic syndrome 9.8
42 hydrops fetalis, nonimmune, and/or atrial septal defect 9.8
43 hepatitis 9.8
44 hypokalemia 9.8
45 fetal edema 9.8
46 lung cancer 9.8
47 hemolytic anemia 9.8
48 metabolic acidosis 9.8
49 hereditary spherocytosis 9.8
50 oligospermia 9.8

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 via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
absent lacrimal puncta
absent lateral one-third of eyebrow

Head And Neck Mouth:
cleft palate
cleft lip
small mouth
cleft uvula
velopharyngeal incompetence

Head And Neck Ears:
recurrent otitis media
hearing loss
atretic ear canals

Head And Neck Face:
high forehead
maxillary hypoplasia

Genitourinary External Genitalia Female:
hypoplastic labia majora

Skin Nails Hair Hair:
pili canaliculi
absent lateral one-third of eyebrow
sparse, fine hair
progressive alopecia

Skin Nails Hair Nails:
small nails
thickened nails

Growth Height:
short stature

Skin Nails Hair Skin:
thin skin
hypohidrosis
decreased number of sweat pores

Genitourinary External Genitalia Male:
hypospadias

Head And Neck Teeth:
hypodontia
small, conical teeth

Head And Neck Nose:
narrow nose
low nasal bridge
hypoplastic alae nasi

Skeletal Hands:
syndactyly


Clinical features from OMIM:

129400

Human phenotypes related to Rapp-Hodgkin Syndrome:

32 (show all 30)
# 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 hypohidrosis 32 HP:0000966
8 recurrent otitis media 32 HP:0000403
9 underdeveloped nasal alae 32 HP:0000430
10 hypospadias 32 HP:0000047
11 small nail 32 HP:0001792
12 hypoplasia of the maxilla 32 HP:0000327
13 narrow mouth 32 HP:0000160
14 fine hair 32 HP:0002213
15 high forehead 32 HP:0000348
16 hypodontia 32 HP:0000668
17 cleft upper lip 32 HP:0000204
18 sparse hair 32 HP:0008070
19 bifid uvula 32 HP:0000193
20 hypoplastic labia majora 32 HP:0000059
21 narrow nose 32 HP:0000460
22 pili canaliculi 32 HP:0002235
23 thick nail 32 HP:0001805
24 syndactyly 32 HP:0001159
25 absent lacrimal punctum 32 HP:0001092
26 velopharyngeal insufficiency 32 HP:0000220
27 small, conical teeth 32 HP:0200141
28 anhidrotic ectodermal dysplasia 32 HP:0007476
29 progressive alopecia 32 HP:0002287
30 decreased number of sweat glands 32 HP:0007500

UMLS symptoms related to Rapp-Hodgkin Syndrome:


pachyonychia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.28 SNCA TP73 BCL10 SATB2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.28 SNCA TP63 TP73 BCL10 SATB2

MGI Mouse Phenotypes related to Rapp-Hodgkin Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 BCL10 DLX5 ITCH SATB2 SNCA TBX22
2 cardiovascular system MP:0005385 10.02 TP73 DLX5 ITCH SATB2 SCARB1 SNCA
3 craniofacial MP:0005382 9.98 DLX5 DLX6 ITCH SATB2 TBX22 TP63
4 growth/size/body region MP:0005378 9.97 DLX5 DLX6 ITCH PPY SATB2 SNCA
5 mortality/aging MP:0010768 9.96 BCL10 DLX5 DLX6 ITCH SATB2 SCARB1
6 digestive/alimentary MP:0005381 9.95 DLX5 DLX6 SATB2 SNCA TBX22 TP63
7 embryo MP:0005380 9.91 TP73 BCL10 DLX5 DLX6 SATB2 SCARB1
8 respiratory system MP:0005388 9.7 DLX5 DLX6 ITCH SATB2 TBX22 TP63
9 skeleton MP:0005390 9.61 TP63 TP73 DLX5 DLX6 ITCH PPY
10 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:

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

Anatomical Context for Rapp-Hodgkin Syndrome

MalaCards organs/tissues related to Rapp-Hodgkin Syndrome:

41
Skin, Tongue

Publications for Rapp-Hodgkin Syndrome

Articles related to Rapp-Hodgkin Syndrome:

(show all 26)
# Title Authors Year
1
Rapp Hodgkin Syndrome. ( 28584763 )
2017
2
Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia. ( 27080974 )
2016
3
Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome. ( 23662261 )
2013
4
Cicatricial external auditory canal stenosis caused by ectodermal dysplasia: Rapp-Hodgkin syndrome. ( 23780599 )
2013
5
Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome. ( 22759387 )
2012
6
Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway. ( 22342398 )
2012
7
Prosthetic rehabilitation of a child with Rapp-Hodgkin syndrome. ( 22828770 )
2012
8
Rapp-Hodgkin syndrome: clinical and dental findings. ( 19953814 )
2009
9
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
10
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome. ( 16824815 )
2006
11
Rapp-Hodgkin syndrome and the tail of p63. ( 15725251 )
2005
12
Rapp-Hodgkin syndrome: a review of the aspects of hair and hair color. ( 16198808 )
2005
13
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. ( 15200513 )
2004
14
Rapp-Hodgkin syndrome. ( 15748593 )
2004
15
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. ( 12939657 )
2003
16
Mixed clefting type in Rapp-Hodgkin syndrome. ( 11920831 )
2002
17
Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: newly recognized findings. ( 9779799 )
1998
18
What syndrome is this? Rapp-Hodgkin syndrome. ( 9144704 )
1997
19
Cephalometric analysis of Rapp-Hodgkin syndrome. ( 7837251 )
1994
20
Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity? ( 8305327 )
1994
21
Rapp-Hodgkin syndrome with pili canaliculi. ( 8493170 )
1993
22
Rapp-Hodgkin syndrome. ( 1859572 )
1991
23
The Rapp-Hodgkin syndrome. ( 2012121 )
1991
24
Rapp-Hodgkin syndrome: report of a Brazilian family. ( 2389804 )
1990
25
Rapp-Hodgkin syndrome: an ectodermal dysplasia involving the teeth, hair, nails, and palate. Report of a case and review of the literature. ( 2643072 )
1989
26
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:

75
# 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
(show all 12)
# 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 NM_003722.4(TP63): c.953G> A (p.Arg318His) single nucleotide variant Pathogenic rs121908840 GRCh38 Chromosome 3, 189867903: 189867903
3 TP63 TP63, 1-BP DEL, 1709A deletion Pathogenic
4 TP63 TP63, 1-BP DEL, 1859A deletion Pathogenic
5 TP63 NM_003722.4(TP63): c.1646T> C (p.Ile549Thr) single nucleotide variant Pathogenic rs121908845 GRCh37 Chromosome 3, 189607267: 189607267
6 TP63 NM_003722.4(TP63): c.1646T> C (p.Ile549Thr) single nucleotide variant Pathogenic rs121908845 GRCh38 Chromosome 3, 189889478: 189889478
7 TP63 NM_003722.4(TP63): c.1738T> C (p.Ser580Pro) single nucleotide variant Pathogenic rs121908846 GRCh37 Chromosome 3, 189608663: 189608663
8 TP63 NM_003722.4(TP63): c.1738T> C (p.Ser580Pro) single nucleotide variant Pathogenic rs121908846 GRCh38 Chromosome 3, 189890874: 189890874
9 TP63 NM_003722.4(TP63): c.1054A> G (p.Arg352Gly) single nucleotide variant Pathogenic rs121908847 GRCh37 Chromosome 3, 189586430: 189586430
10 TP63 NM_003722.4(TP63): c.1054A> G (p.Arg352Gly) single nucleotide variant Pathogenic rs121908847 GRCh38 Chromosome 3, 189868641: 189868641
11 TP63 TP63, 1-BP DEL, 1783C deletion Pathogenic
12 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:

# 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:

# 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)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.88 DLX5 SATB2 TP63 TP73
2 positive regulation of transcription, DNA-templated GO:0045893 9.88 BCL10 DLX5 TP63 TP73
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.83 SATB2 SNCA TBX22 TP63 TP73
4 apoptotic process GO:0006915 9.8 BCL10 ITCH SNCA TP63 TP73
5 skeletal system development GO:0001501 9.67 DLX5 DLX6 TP63
6 protein tetramerization GO:0051262 9.57 TP63 TP73
7 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 9.55 TP63 TP73
8 response to gamma radiation GO:0010332 9.54 TP63 TP73
9 regulation of hematopoietic stem cell differentiation GO:1902036 9.54 ITCH SEM1 TP73
10 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.52 TP63 TP73
11 response to X-ray GO:0010165 9.51 TP63 TP73
12 head development GO:0060322 9.48 DLX5 DLX6
13 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.46 TP63 TP73
14 roof of mouth 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:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.72 DLX5 DLX6 SATB2 TP63 TP73
2 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.56 DLX5 SATB2 TP63 TP73
3 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.5 DLX5 DLX6 PSPC1 SATB2 TBX22 TP63
4 transcription regulatory region DNA binding GO:0044212 9.46 DLX5 SNCA TP63 TP73
5 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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