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RHS
MCID: RPP001
MIFTS: 48

Rapp-Hodgkin Syndrome (RHS)

Categories: Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Rapp-Hodgkin Syndrome

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MalaCards integrated aliases for Rapp-Hodgkin Syndrome:

Name: Rapp-Hodgkin Syndrome 56 12 74 73 54 43 15 71
Anhidrotic Ectodermal Dysplasia with Cleft Lip/palate 12 73
Rapp-Hodgkin Ectodermal Dysplasia Syndrome 29 6
Rhs 56 73
Ectodermal Dysplasia, Anhidrotic, with Cleft Lip/palate 56
Ectodermal Dysplasia, Rapp-Hodgkin Type 73
Rapp-Hodgkin Ectodermal Dysplasia 73
Syndrome, Rapp-Hodgkin 39
Orofacial Cleft 8 71
Edrh 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
rapp-hodgkin syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
See all MalaCards categories (disease lists)


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Summaries for Rapp-Hodgkin Syndrome

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UniProtKB/Swiss-Prot : 73 Rapp-Hodgkin syndrome: 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. RHS inheritance is autosomal dominant.

MalaCards based summary : Rapp-Hodgkin Syndrome, also known as anhidrotic ectodermal dysplasia with cleft lip/palate, is related to split-hand/foot malformation 1 and ankyloblepharon-ectodermal defects-cleft lip/palate, and has symptoms including pachyonychia An important gene associated with Rapp-Hodgkin Syndrome is TP63 (Tumor Protein P63), and among its related pathways/superpathways are TNFs bind their physiological receptors and TP53 Network. Affiliated tissues include skin, t cells and bone, and related phenotypes are ptosis and hearing impairment

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 : 74 Rapp-Hodgkin syndrome was formerly thought to be a unique autosomal dominant disorder due to a P63 gene... more...

More information from OMIM: 129400
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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 558)
# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 1 31.5 TP63 DLX5
2 ankyloblepharon-ectodermal defects-cleft lip/palate 31.5 TP63 RIPK4 IRF6 HNRNPAB DYNC1I1 DLX6
3 isolated split hand-split foot malformation 31.2 TP63 DLX6 DLX5
4 ectodermal dysplasia 31.1 TP63 EDARADD EDAR
5 wells syndrome 30.4 TP63 HNRNPAB
6 cleft palate, isolated 30.2 TP63 IRF6 DLX6 DLX5
7 split hand-foot malformation 30.2 TP63 DLX6 DLX5 BHLHA9
8 anhidrosis 30.0 EDARADD EDAR
9 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 30.0 TP63 DYNC1I1 DLX6 DLX5 BHLHA9
10 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 29.6 EDARADD EDAR
11 popliteal pterygium syndrome 29.5 RIPK4 IRF6
12 chromosome 2q35 duplication syndrome 29.5 TP63 IRF6 DLX6 DLX5 BHLHA9
13 van der woude syndrome 1 29.4 TP63 RIPK4 IRF6
14 rh-null, amorph type 12.8
15 rh-null, regulator type 12.7
16 rh isoimmunization 12.5
17 retinohepatoendocrinologic syndrome 12.5
18 overhydrated hereditary stomatocytosis 11.7
19 hydrops fetalis, nonimmune 11.7
20 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 11.6
21 kernicterus 11.5
22 reticulohistiocytic granuloma 11.5
23 blood group--kell system 11.5
24 congenital disorder of glycosylation, type iic 11.3
25 tricuspid valve disease 11.2
26 mitral valve disease 11.2
27 ramsay hunt syndrome i 11.2
28 prostate cancer 11.0
29 hemolytic disease due to fetomaternal alloimmunization 10.9
30 neuroblastoma 10.8
31 cleft lip 10.7
32 cleft lip/palate 10.7
33 chromophobe renal cell carcinoma 10.7
34 amenorrhea 10.6
35 hemolytic anemia 10.5
36 hypogonadotropism 10.5
37 toxoplasmosis 10.5
38 hypogonadism 10.5
39 deficiency anemia 10.4
40 fetal erythroblastosis 10.4
41 pulmonary hypertension, primary, 3 10.4
42 endometriosis 10.4
43 precocious puberty 10.4
44 renal dysplasia 10.3
45 bilirubin metabolic disorder 10.3
46 erosive pustular dermatosis of the scalp 10.3
47 cryptorchidism, unilateral or bilateral 10.3
48 purpura 10.3
49 infertility 10.3
50 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3

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



Diseases related to Rapp-Hodgkin Syndrome
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Symptoms & Phenotypes for Rapp-Hodgkin Syndrome

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Human phenotypes related to Rapp-Hodgkin Syndrome:

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

Symptoms via clinical synopsis from OMIM:

56
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

Head And Neck Teeth:
hypodontia
small, conical teeth

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

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

Genitourinary External Genitalia Female:
hypoplastic labia majora

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

Skeletal Hands:
syndactyly

Clinical features from OMIM:

129400

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 Decreased Hepatitis C virus replication GR00180-A-1 9.02 DLX6 DYNC1I1 HNRNPAB
2 Decreased Hepatitis C virus replication GR00180-A-2 9.02 DLX6 HNRNPAB

MGI Mouse Phenotypes related to Rapp-Hodgkin Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 DGKD DLX5 DLX6 EDAR EDARADD HNRNPAB
2 cellular MP:0005384 10.08 BHLHA9 DLX5 EDAR HNRNPAB IRF6 RIPK4
3 craniofacial MP:0005382 10.06 DLX5 DLX6 EDAR EDARADD IRF6 RIPK4
4 digestive/alimentary MP:0005381 9.98 DLX5 DLX6 EDAR IRF6 RIPK4 TP63
5 integument MP:0010771 9.92 DGKD DLX5 DLX6 EDAR EDARADD IRF6
6 limbs/digits/tail MP:0005371 9.86 BHLHA9 DLX5 DLX6 EDAR EDARADD IRF6
7 mortality/aging MP:0010768 9.85 DGKD DLX5 DLX6 EDAR EDARADD HNRNPAB
8 hearing/vestibular/ear MP:0005377 9.77 DLX5 DLX6 EDARADD IRF6 TP73
9 respiratory system MP:0005388 9.5 DGKD DLX5 DLX6 EDARADD RIPK4 TP63
10 skeleton MP:0005390 9.17 DLX5 DLX6 EDAR EDARADD IRF6 TP63
Sources

Drugs & Therapeutics for Rapp-Hodgkin Syndrome

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

Cochrane evidence based reviews: rapp-hodgkin syndrome

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Genetic Tests for Rapp-Hodgkin Syndrome

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Genetic tests related to Rapp-Hodgkin Syndrome:

# Genetic test Affiliating Genes
1 Rapp-Hodgkin Ectodermal Dysplasia Syndrome 29
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Anatomical Context for Rapp-Hodgkin Syndrome

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MalaCards organs/tissues related to Rapp-Hodgkin Syndrome:

40
Skin, T Cells, Bone, Prostate, Breast, Pituitary, Tongue
Sources

Publications for Rapp-Hodgkin Syndrome

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Articles related to Rapp-Hodgkin Syndrome:

(show top 50) (show all 63)
# Title Authors PMID Year
1
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. 54 61 56 6
12939657 2003
2
Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. 54 61 56 6
12766194 2003
3
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. 61 56 6
19239083 2008
4
A new mutation in TP63 is associated with age-related pathology. 61 56 6
17609671 2007
5
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. 61 56 6
15200513 2004
6
AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias. 56 6
10886756 2000
7
TP63-Related Disorders 61 6
20556892 2010
8
The Rapp-Hodgkin syndrome. 61 56
2012121 1991
9
Rapp-Hodgkin syndrome: report of a Brazilian family. 61 56
2389804 1990
10
Rapp-Hodgkin ectodermal dysplasia. 61 56
2321488 1990
11
Rapp-Hodgkin syndrome: observations on ten cases and characteristic hair changes (pili canaliculi). 61 56
3179424 1988
12
Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome. 61 56
7116674 1982
13
Rapp-Hodgkin ectodermal dysplasia syndrome. 61 56
7305420 1981
14
Isoforms of DeltaNp63 and the migration of ocular limbal cells in human corneal regeneration. 6
15983386 2005
15
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. 56
14684701 2003
16
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. 6
10839977 2000
17
Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. 56
8737656 1996
18
Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome. 56
2015692 1991
19
Rapp-Hodgkin ectodermal dysplasia. 56
3794888 1987
20
Ectodermal dysplasia and multiple defects (Rapp-Hodgkins type). 56
4643047 1972
21
Hypohidrotic ectodermal dysplasia with multiple associated anomalies. 56
5173255 1971
22
Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies. 56
5713637 1968
23
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. 54 61
19676059 2009
24
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. 54 61
18364388 2008
25
Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings. 54 61
16190990 2005
26
Rapp-Hodgkin syndrome and the tail of p63. 54 61
15725251 2005
27
Rapp-Hodgkin syndrome. 54 61
15748593 2004
28
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia. 61
31420900 2019
29
Rapp Hodgkin Syndrome. 61
28584763 2017
30
Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia. 61
27080974 2016
31
A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes. 61
26882220 2016
32
Cicatricial external auditory canal stenosis caused by ectodermal dysplasia: Rapp-Hodgkin syndrome. 61
23780599 2013
33
Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome. 61
23662261 2013
34
Two interesting cases of EEC syndrome. 61
25737881 2013
35
Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome. 61
22759387 2012
36
Prosthetic rehabilitation of a child with Rapp-Hodgkin syndrome. 61
22828770 2012
37
Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway. 61
22342398 2012
38
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes. 61
22069181 2011
39
A newborn with overlapping features of AEC and EEC syndromes. 61
22065614 2011
40
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate. 61
21567929 2011
41
Recognition of p63 by the E3 ligase ITCH: Effect of an ectodermal dysplasia mutant. 61
20855944 2010
42
Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder. 61
20491771 2010
43
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). 61
19676060 2009
44
Rapp-Hodgkin syndrome: clinical and dental findings. 61
19953814 2009
45
Hay-Wells syndrome in a child with mutation in the TP73L gene. 61
17910675 2007
46
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome. 61
16824815 2006
47
Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome. 61
16532463 2006
48
Rapp-Hodgkin syndrome: a review of the aspects of hair and hair color. 61
16198808 2005
49
De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome. 61
15807690 2005
50
Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes. 61
15347331 2004
Sources

Variations for Rapp-Hodgkin Syndrome

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ClinVar genetic disease variations for Rapp-Hodgkin Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TP63 NM_003722.5(TP63):c.953G>A (p.Arg318His)SNV Pathogenic 6533 rs121908840 3:189585692-189585692 3:189867903-189867903
2 TP63 TP63, 1-BP DEL, 1709Adeletion Pathogenic 6542
3 TP63 TP63, 1-BP DEL, 1859Adeletion Pathogenic 6543
4 TP63 NM_003722.5(TP63):c.1646T>C (p.Ile549Thr)SNV Pathogenic 6544 rs121908845 3:189607267-189607267 3:189889478-189889478
5 TP63 NM_003722.5(TP63):c.1738T>C (p.Ser580Pro)SNV Pathogenic 6545 rs121908846 3:189608663-189608663 3:189890874-189890874
6 TP63 TP63, 1-BP DEL, 1783Cdeletion Pathogenic 6551
7 TP63 TP63, 11-BP DUP, NT1716duplication Pathogenic 6553
8 TP63 NM_003722.5(TP63):c.1790T>C (p.Ile597Thr)SNV Pathogenic 807713 3:189612038-189612038 3:189894249-189894249

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

73
# Symbol AA change Variation ID SNP ID
1 TP63 p.Arg318His VAR_020873 rs121908840
2 TP63 p.Ile549Thr VAR_035128 rs121908845
3 TP63 p.Ser580Pro VAR_035129 rs121908846

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Expression for Rapp-Hodgkin Syndrome

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

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

# Super pathways Score Top Affiliating Genes
1
TNFs bind their physiological receptors 65
10.63 EDARADD EDAR
2
TP53 Network 1
Show member pathways
 10.3 TP73 TP63
3
Hypothetical Craniofacial Development Pathway 1
9.53 TP63 IRF6
Sources

GO Terms for Rapp-Hodgkin Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.65 TP73 TP63 RIPK4 IRF6 HNRNPAB EDARADD
2 nuclear chromatin GO:0000790 9.1 TP73 TP63 IRF6 DLX6 DLX5 BHLHA9

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.93 TP73 TP63 IRF6 DLX6 DLX5
2 positive regulation of transcription, DNA-templated GO:0045893 9.83 TP73 TP63 IRF6 HNRNPAB DLX5
3 cell differentiation GO:0030154 9.73 TP63 IRF6 EDARADD EDAR DLX6 DLX5
4 skeletal system development GO:0001501 9.65 TP63 DLX6 DLX5
5 epithelial cell differentiation GO:0030855 9.58 TP63 DLX6 DLX5
6 hair follicle development GO:0001942 9.55 TP63 EDAR
7 roof of mouth development GO:0060021 9.54 IRF6 DLX6 DLX5
8 protein tetramerization GO:0051262 9.52 TP73 TP63
9 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.51 TP73 TP63
10 multicellular organism development GO:0007275 9.5 TP63 EDARADD EDAR DLX6 DLX5 DGKD
11 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 9.49 TP73 TP63
12 head development GO:0060322 9.46 DLX6 DLX5
13 embryonic limb morphogenesis GO:0030326 9.33 TP63 DLX6 DLX5
14 embryo development GO:0009790 9.32 DLX6 DLX5
15 anatomical structure formation involved in morphogenesis GO:0048646 8.8 TP63 DLX6 DLX5

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.67 TP73 TP63 IRF6 DLX5
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.63 TP73 TP63 IRF6 DLX6 DLX5 BHLHA9
3 transcription regulatory region DNA binding GO:0044212 9.56 TP73 TP63 IRF6 DLX5
4 DNA-binding transcription factor activity GO:0003700 9.43 TP73 TP63 IRF6 HNRNPAB DLX6 DLX5
5 MDM2/MDM4 family protein binding GO:0097371 9.32 TP73 TP63
6 sequence-specific DNA binding GO:0043565 9.1 TP73 TP63 IRF6 HNRNPAB DLX6 DLX5
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Sources for Rapp-Hodgkin Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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