RHS
MCID: RPP001
MIFTS: 39

Rapp-Hodgkin Syndrome (RHS)

Categories: Genetic diseases
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Aliases & Classifications for Rapp-Hodgkin Syndrome

MalaCards integrated aliases for Rapp-Hodgkin Syndrome:

Name: Rapp-Hodgkin Syndrome 57 11 75 73 53 43 14 38 71
Rhs 57 11 73
Anhidrotic Ectodermal Dysplasia with Cleft Lip/palate 11 73
Rapp-Hodgkin Ectodermal Dysplasia Syndrome 28 5
Ectodermal Dysplasia, Rapp-Hodgkin Type 11 73
Ectodermal Dysplasia, Anhidrotic, with Cleft Lip/palate 57
Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type 11
Rapp-Hodgkin Ectodermal Dysplasia 73
Orofacial Cleft 8 71
Edrh 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
hyperthermia in early childhood
allelic to adult syndrome , shfm4 , hay-wells syndrome , and limb-mammary syndrome


Classifications:



Summaries for Rapp-Hodgkin Syndrome

UniProtKB/Swiss-Prot: 73 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 rhs, is related to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 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 is TP53 network. Affiliated tissues include skin and tongue, and related phenotypes are ptosis and hearing impairment

OMIM®: 57 Rapp-Hodgkin syndrome (RHS) is characterized by anhidrotic ectodermal dysplasia and cleft lip/palate. Patients have 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, and dystrophic nails (summary by Kantaputra et al., 2003). (129400) (Updated 08-Dec-2022)

Disease Ontology: 11 An ectodermal dysplasia 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: 75 Rapp-Hodgkin syndrome was formerly thought to be a unique autosomal dominant disorder due to a P63 gene... more...

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 79)
# Related Disease Score Top Affiliating Genes
1 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 30.4 TP63 BHLHA9
2 ankyloblepharon-ectodermal defects-cleft lip/palate 11.8
3 herpes zoster oticus 11.1
4 congenital disorder of glycosylation, type iic 11.0
5 ectodermal dysplasia 10.7
6 cleft lip 10.6
7 cleft lip/palate 10.5
8 split-hand/foot malformation 1 10.5
9 tooth agenesis 10.5
10 split hand-foot malformation 10.5
11 isolated split hand-split foot malformation 10.5
12 cleft palate, isolated 10.4
13 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.4
14 renal dysplasia, cystic 10.3
15 renal dysplasia 10.3
16 intraductal papilloma 10.2 TP63 RUSF1
17 ovarian carcinosarcoma 10.2 TP53 H2AC18
18 split-hand/foot malformation 3 10.2 TP63 BHLHA9
19 erosive pustular dermatosis of the scalp 10.2
20 megaesophagus 10.2 TCN2 MASP1 LMLN
21 learning disability 10.2 POLI MASP1 H2AC18
22 anal squamous cell carcinoma 10.2 TP53 H2AC18
23 uvula, bifid 10.2
24 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.2
25 pili torti, early-onset 10.2
26 ectodermal dysplasia 1, hypohidrotic, x-linked 10.2
27 hypospadias 10.2
28 anhidrosis 10.2
29 excessive tearing 10.2
30 palmoplantar keratosis 10.2
31 alopecia 10.2
32 trypanosomiasis 10.2 TCN2 LMLN H2AC18
33 parasitic protozoa infectious disease 10.2 TCN2 LMLN H2AC18
34 mucocutaneous leishmaniasis 10.2 LMLN H2AC18
35 actinic keratosis 10.2 TP63 TP53 H2AC18
36 intraductal breast benign neoplasm 10.2 TP53 RUSF1
37 salivary gland carcinoma 10.2 TP63 TP53 H2AC18
38 epilepsy, idiopathic generalized 2 10.2 TBL1X H2AC18
39 endometrioid ovary carcinoma 10.2 TP53 H2AC18
40 split-hand/foot malformation 4 10.1 TP63 BHLHA9
41 ovarian clear cell adenocarcinoma 10.1 TP53 H2AC18
42 chromosomal duplication syndrome 10.1 TP53 H2AC18 BHLHA9
43 alexithymia 10.1 POLI H2AC18
44 popliteal pterygium syndrome 10.1
45 lacrimal duct defect 10.1
46 nail disorder, nonsyndromic congenital, 1 10.1
47 chromosome 2q35 duplication syndrome 10.1
48 multiple pterygium syndrome, escobar variant 10.1
49 ectodermal dysplasia-syndactyly syndrome 2 10.1
50 van der woude syndrome 10.1

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



Diseases related to Rapp-Hodgkin Syndrome

Symptoms & Phenotypes for Rapp-Hodgkin Syndrome

Human phenotypes related to Rapp-Hodgkin Syndrome:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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

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

Skin Nails Hair Nails:
small nails
thickened nails

Growth Height:
short stature

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

Genitourinary External Genitalia Male:
hypospadias

Head And Neck Teeth:
hypodontia
small, conical teeth

Skeletal Hands:
syndactyly

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

Clinical features from OMIM®:

129400 (Updated 08-Dec-2022)

UMLS symptoms related to Rapp-Hodgkin Syndrome:


pachyonychia

Drugs & Therapeutics for Rapp-Hodgkin Syndrome

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

Cochrane evidence based reviews: 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 28 TP63

Anatomical Context for Rapp-Hodgkin Syndrome

Organs/tissues related to Rapp-Hodgkin Syndrome:

MalaCards : Skin, Tongue

Publications for Rapp-Hodgkin Syndrome

Articles related to Rapp-Hodgkin Syndrome:

(show top 50) (show all 74)
# Title Authors PMID Year
1
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. 53 62 57 5
12939657 2003
2
Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. 53 62 57 5
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. 62 57 5
19239083 2008
4
A new mutation in TP63 is associated with age-related pathology. 62 57 5
17609671 2007
5
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. 62 57 5
15200513 2004
6
AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias. 57 5
10886756 2000
7
Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. 62 57
8737656 1996
8
The Rapp-Hodgkin syndrome. 62 57
2012121 1991
9
Rapp-Hodgkin syndrome: report of a Brazilian family. 62 57
2389804 1990
10
Rapp-Hodgkin ectodermal dysplasia. 62 57
2321488 1990
11
Rapp-Hodgkin syndrome: observations on ten cases and characteristic hair changes (pili canaliculi). 62 57
3179424 1988
12
Rapp-Hodgkin ectodermal dysplasia. 62 57
3794888 1987
13
Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome. 62 57
7116674 1982
14
Rapp-Hodgkin ectodermal dysplasia syndrome. 62 57
7305420 1981
15
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders. 5
29956718 2019
16
Isoforms of DeltaNp63 and the migration of ocular limbal cells in human corneal regeneration. 5
15983386 2005
17
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. 57
14684701 2003
18
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. 5
10839977 2000
19
Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome. 57
2015692 1991
20
Ectodermal dysplasia and multiple defects (Rapp-Hodgkins type). 57
4643047 1972
21
Hypohidrotic ectodermal dysplasia with multiple associated anomalies. 57
5173255 1971
22
Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies. 57
5713637 1968
23
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. 53 62
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. 53 62
18364388 2008
25
Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings. 53 62
16190990 2005
26
Rapp-Hodgkin syndrome and the tail of p63. 53 62
15725251 2005
27
Rapp-Hodgkin syndrome. 53 62
15748593 2004
28
Use of FACIAL ARTERY MUSCULOMUCOSAL and Turbinate Flaps for Rapp Hodgkin Syndrome. 62
36117904 2022
29
A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia. 62
35595744 2022
30
Palmoplantar keratoderma: An unusual manifestation of hypohydrotic ectodermic dysplasia. 62
35310322 2022
31
Pili Torti: A Feature of Numerous Congenital and Acquired Conditions. 62
34501349 2021
32
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia. 62
31420900 2019
33
Rapp Hodgkin Syndrome. 62
28584763 2017
34
A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes. 62
26882220 2016
35
Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia. 62
27080974 2016
36
High-Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp-Hodgkin Ectodermal Dysplasia. 62
26861896 2016
37
Cicatricial external auditory canal stenosis caused by ectodermal dysplasia: Rapp-Hodgkin syndrome. 62
23780599 2013
38
Two interesting cases of EEC syndrome. 62
25737881 2013
39
Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome. 62
23662261 2013
40
Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome. 62
22759387 2012
41
Prosthetic rehabilitation of a child with Rapp-Hodgkin syndrome. 62
22828770 2012
42
Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway. 62
22342398 2012
43
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes. 62
22069181 2011
44
A newborn with overlapping features of AEC and EEC syndromes. 62
22065614 2011
45
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate. 62
21567929 2011
46
Recognition of p63 by the E3 ligase ITCH: Effect of an ectodermal dysplasia mutant. 62
20855944 2010
47
Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder. 62
20491771 2010
48
TP63-Related Disorders 62
20556892 2010
49
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). 62
19676060 2009
50
Rapp-Hodgkin syndrome: clinical and dental findings. 62
19953814 2009

Variations for Rapp-Hodgkin Syndrome

ClinVar genetic disease variations for Rapp-Hodgkin Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TP63 NM_003722.5(TP63):c.953G>A (p.Arg318His) SNV Pathogenic
6533 rs121908840 GRCh37: 3:189585692-189585692
GRCh38: 3:189867903-189867903
2 TP63 NM_003722.5(TP63):c.1827del (p.Glu609fs) DEL Pathogenic
6542 GRCh37: 3:189612074-189612074
GRCh38: 3:189894285-189894285
3 TP63 NM_003722.5(TP63):c.1976del (p.Asn659fs) DEL Pathogenic
6543 GRCh37: 3:189612223-189612223
GRCh38: 3:189894434-189894434
4 TP63 NM_003722.5(TP63):c.1646T>C (p.Ile549Thr) SNV Pathogenic
6544 rs121908845 GRCh37: 3:189607267-189607267
GRCh38: 3:189889478-189889478
5 TP63 NM_003722.5(TP63):c.1738T>C (p.Ser580Pro) SNV Pathogenic
6545 rs121908846 GRCh37: 3:189608663-189608663
GRCh38: 3:189890874-189890874
6 TP63 NM_003722.5(TP63):c.1900del (p.Arg634fs) DEL Pathogenic
6551 GRCh37: 3:189612146-189612146
GRCh38: 3:189894357-189894357
7 TP63 NM_003722.5(TP63):c.1790T>C (p.Ile597Thr) SNV Pathogenic
807713 rs1577213466 GRCh37: 3:189612038-189612038
GRCh38: 3:189894249-189894249
8 TP63 NM_003722.5(TP63):c.727C>T (p.Arg243Trp) SNV Pathogenic
6527 rs121908835 GRCh37: 3:189582168-189582168
GRCh38: 3:189864379-189864379
9 TP63 NM_003722.5:c.1833_1843dup DUP Pathogenic
6553 GRCh37:
GRCh38:
10 TP63 NM_003722.5(TP63):c.858dup (p.Leu287fs) DUP Likely Pathogenic
1333911 GRCh37: 3:189584561-189584562
GRCh38: 3:189866772-189866773

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

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
9.92 TP63 TP53

GO Terms for Rapp-Hodgkin Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 MDM2/MDM4 family protein binding GO:0097371 8.92 TP63 TP53

Sources for Rapp-Hodgkin Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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