Rapp-Hodgkin Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

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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...

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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:

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Symptoms & Phenotypes for Rapp-Hodgkin Syndrome

Human phenotypes related to Rapp-Hodgkin Syndrome:

³⁰ (show all 29)

#	Description	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

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Drugs & Therapeutics for Rapp-Hodgkin Syndrome

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

Genetic tests related to Rapp-Hodgkin Syndrome:

#	Genetic test	Affiliating Genes
1	Rapp-Hodgkin Ectodermal Dysplasia Syndrome ²⁸	TP63

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Anatomical Context for Rapp-Hodgkin Syndrome

Organs/tissues related to Rapp-Hodgkin Syndrome:

MalaCards : Skin, Tongue

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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	Bougeard G...Frebourg T	12939657	2003
2	Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. ⁵³ ⁶² ⁵⁷ ⁵	Kantaputra PN...McGrath JA	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	Prontera P...Sensi A	19239083	2008
4	A new mutation in TP63 is associated with age-related pathology. ⁶² ⁵⁷ ⁵	Holder-Espinasse M...Manouvrier-Hanu S	17609671	2007
5	Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. ⁶² ⁵⁷ ⁵	Bertola DR...van Bokhoven H	15200513	2004
6	AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias. ⁵⁷ ⁵	Bertola DR...Gonzalez CH	10886756	2000
7	Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. ⁶² ⁵⁷	Moerman P...Fryns JP	8737656	1996
8	The Rapp-Hodgkin syndrome. ⁶² ⁵⁷	Breslau-Siderius EJ...Swart JG	2012121	1991
9	Rapp-Hodgkin syndrome: report of a Brazilian family. ⁶² ⁵⁷	Rodini EO...Richieri-Costa A	2389804	1990
10	Rapp-Hodgkin ectodermal dysplasia. ⁶² ⁵⁷	Santos H...Rodrigues ML	2321488	1990
11	Rapp-Hodgkin syndrome: observations on ten cases and characteristic hair changes (pili canaliculi). ⁶² ⁵⁷	Salinas CF...Montes GM	3179424	1988
12	Rapp-Hodgkin ectodermal dysplasia. ⁶² ⁵⁷	Schroeder HW...Sybert VP	3794888	1987
13	Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome. ⁶² ⁵⁷	Silengo MC...Franceschini P	7116674	1982
14	Rapp-Hodgkin ectodermal dysplasia syndrome. ⁶² ⁵⁷	Stasiowska B...Benso L	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	Niculescu L...Giehl KA	29956718	2019
16	Isoforms of DeltaNp63 and the migration of ocular limbal cells in human corneal regeneration. ⁵	Di Iorio E...De Luca M	15983386	2005
17	Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. ⁵⁷	Dianzani I...Anneren G	14684701	2003
18	Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. ⁵	Ianakiev P...Tsipouras P	10839977	2000
19	Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome. ⁵⁷	Walpole IR...Goldblatt J	2015692	1991
20	Ectodermal dysplasia and multiple defects (Rapp-Hodgkins type). ⁵⁷	Wannarachue N...Smith DW	4643047	1972
21	Hypohidrotic ectodermal dysplasia with multiple associated anomalies. ⁵⁷	Summitt RL...Hiatt RL	5173255	1971
22	Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies. ⁵⁷	Rapp RS...Hodgkin WE	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	Sutton VR...Bacino CA	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	Rinne T...van Bokhoven H	18364388	2008
25	Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings. ⁵³ ⁶²	Steele JA...Kwong PC	16190990	2005
26	Rapp-Hodgkin syndrome and the tail of p63. ⁵³ ⁶²	Chan I...Kivirikko S	15725251	2005
27	Rapp-Hodgkin syndrome. ⁵³ ⁶²	Kim G...Shin H	15748593	2004
28	Use of FACIAL ARTERY MUSCULOMUCOSAL and Turbinate Flaps for Rapp Hodgkin Syndrome. ⁶²	Saboury M...Saboury M	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	Hori A...Hata K	35595744	2022
30	Palmoplantar keratoderma: An unusual manifestation of hypohydrotic ectodermic dysplasia. ⁶²	Abdelli W...Mokni M	35310322	2022
31	Pili Torti: A Feature of Numerous Congenital and Acquired Conditions. ⁶²	Hoffmann A...Rudnicka L	34501349	2021
32	A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia. ⁶²	Jin JY...Tang JY	31420900	2019
33	Rapp Hodgkin Syndrome. ⁶²	Chatterjee M...Mukherjee S	28584763	2017
34	A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes. ⁶²	Brueggemann FB...Bartsch O	26882220	2016
35	Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia. ⁶²	Karthikeyani S...Yuvaraja BA	27080974	2016
36	High-Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp-Hodgkin Ectodermal Dysplasia. ⁶²	Theiler M...Frieden IJ	26861896	2016
37	Cicatricial external auditory canal stenosis caused by ectodermal dysplasia: Rapp-Hodgkin syndrome. ⁶²	Sosulski AB...Hayes JD	23780599	2013
38	Two interesting cases of EEC syndrome. ⁶²	Iqbal Ali M...Ali I	25737881	2013
39	Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome. ⁶²	van Straten C...Butow KW	23662261	2013
40	Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome. ⁶²	Knaudt B...Berneburg M	22759387	2012
41	Prosthetic rehabilitation of a child with Rapp-Hodgkin syndrome. ⁶²	Dalben Gda S...Carrara CF	22828770	2012
42	Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway. ⁶²	Vera-Carbonell A...Lopez-Exposito I	22342398	2012
43	Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes. ⁶²	Serra V...Terrinoni A	22069181	2011
44	A newborn with overlapping features of AEC and EEC syndromes. ⁶²	Celik TH...Yurdakok M	22065614	2011
45	Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate. ⁶²	Kantaputra PN...Sripathomsawat W	21567929	2011
46	Recognition of p63 by the E3 ligase ITCH: Effect of an ectodermal dysplasia mutant. ⁶²	Bellomaria A...Melino S	20855944	2010
47	Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder. ⁶²	Clements SE...McGrath JA	20491771	2010
48	TP63-Related Disorders ⁶²	Sutton VR...van Bokhoven H	20556892	2010
49	Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). ⁶²	Rinne T...van Bokhoven H	19676060	2009
50	Rapp-Hodgkin syndrome: clinical and dental findings. ⁶²	Tosun G...Elbay U	19953814	2009

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Genes for Rapp-Hodgkin Syndrome

Genes related to Rapp-Hodgkin Syndrome (1 elite genes):

(show all 27)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TP63	Tumor Protein P63	Protein Coding	1360.34	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	10839977 10886756 12766194 (more) 12939657 15200513 15983386 17609671 19239083 29956718 15725251 15748593 18364388 19676059 16190990
2	H2AC18	H2A Clustered Histone 18	Protein Coding	7.77	DISEASES inferred ¹⁴ ¹⁴
3	LMLN	Leishmanolysin Like Peptidase	Protein Coding	6.96	DISEASES inferred ¹⁴
4	MASP1	MBL Associated Serine Protease 1	Protein Coding	6.15	DISEASES inferred ¹⁴
5	PIRC2	Piwi-Interacting RNA Cluster 2	RNA Gene	6.11	DISEASES inferred ¹⁴
6	ENDOU	Endonuclease, Poly(U) Specific	Protein Coding	5.07	DISEASES inferred ¹⁴
7	ANKMY1	Ankyrin Repeat And MYND Domain Containing 1	Protein Coding	5.04	DISEASES inferred ¹⁴
8	IVD	Isovaleryl-CoA Dehydrogenase	Protein Coding	4.94	DISEASES inferred ¹⁴
9	TENM2	Teneurin Transmembrane Protein 2	Protein Coding	4.88	DISEASES inferred ¹⁴
10	POLI	DNA Polymerase Iota	Protein Coding	4.87	DISEASES inferred ¹⁴
11	TCN2	Transcobalamin 2	Protein Coding	4.82	DISEASES inferred ¹⁴
12	RUSF1	RUS Family Member 1	Protein Coding	4.75	DISEASES inferred ¹⁴
13	PIGK	Phosphatidylinositol Glycan Anchor Biosynthesis Class K	Protein Coding	4.7	DISEASES inferred ¹⁴
14	ACP7	Acid Phosphatase 7, Tartrate Resistant (Putative)	Protein Coding	4.7	DISEASES inferred ¹⁴
15	CBARP	CACN Subunit Beta Associated Regulatory Protein	Protein Coding	4.64	DISEASES inferred ¹⁴
16	LGALS4	Galectin 4	Protein Coding	4.63	DISEASES inferred ¹⁴
17	TP53	Tumor Protein P53	Protein Coding	4.62	DISEASES inferred ¹⁴
18	BHLHA9	Basic Helix-Loop-Helix Family Member A9	Protein Coding	4.55	DISEASES inferred ¹⁴
19	TBL1X	Transducin Beta Like 1 X-Linked	Protein Coding	4.55	DISEASES inferred ¹⁴
20	ARPP21	CAMP Regulated Phosphoprotein 21	Protein Coding	4.53	DISEASES inferred ¹⁴
21	TP73	Tumor Protein P73	Protein Coding	4.52	DISEASES inferred ¹⁴
22	ALDH7A1	Aldehyde Dehydrogenase 7 Family Member A1	Protein Coding	4.51	DISEASES inferred ¹⁴
23	H2AZ1	H2A.Z Variant Histone 1	Protein Coding	4.5	DISEASES inferred ¹⁴
24	DLX5	Distal-Less Homeobox 5	Protein Coding	4.5	DISEASES inferred ¹⁴
25	POLR2L	RNA Polymerase II, I And III Subunit L	Protein Coding	4.46	DISEASES inferred ¹⁴
26	AMN1	Antagonist Of Mitotic Exit Network 1 Homolog	Protein Coding	4.45	DISEASES inferred ¹⁴
27	PPIP5K2	Diphosphoinositol Pentakisphosphate Kinase 2	Protein Coding	4.43	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Rapp-Hodgkin Syndrome

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

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Pathways for Rapp-Hodgkin Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	TP53 network ⁷⁴ Show member pathways Activation, translocation and oligomerization of BAX ⁶⁶	9.92	TP63 TP53

Sources

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

Sources for Rapp-Hodgkin Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

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⁷³ UniProtKB/Swiss-Prot

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⁷⁵ Wikipedia

RHS MCID: RPP001 MIFTS: 39	Rapp-Hodgkin Syndrome (RHS) Categories: Genetic diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Rapp-Hodgkin Syndrome (RHS)

Aliases & Classifications for Rapp-Hodgkin Syndrome

MalaCards integrated aliases for Rapp-Hodgkin Syndrome:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Rapp-Hodgkin Syndrome

Related Diseases for Rapp-Hodgkin Syndrome

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

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

Symptoms & Phenotypes for Rapp-Hodgkin Syndrome

Human phenotypes related to Rapp-Hodgkin Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Rapp-Hodgkin Syndrome:

Drugs & Therapeutics for Rapp-Hodgkin Syndrome

Cochrane evidence based reviews: rapp-hodgkin syndrome

Genetic Tests for Rapp-Hodgkin Syndrome

Genetic tests related to Rapp-Hodgkin Syndrome:

Anatomical Context for Rapp-Hodgkin Syndrome

Organs/tissues related to Rapp-Hodgkin Syndrome:

Publications for Rapp-Hodgkin Syndrome

Articles related to Rapp-Hodgkin Syndrome:

Genes for Rapp-Hodgkin Syndrome

Genes related to Rapp-Hodgkin Syndrome (1 elite genes):

Variations for Rapp-Hodgkin Syndrome

ClinVar genetic disease variations for Rapp-Hodgkin Syndrome:

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

Expression for Rapp-Hodgkin Syndrome

Pathways for Rapp-Hodgkin Syndrome

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

GO Terms for Rapp-Hodgkin Syndrome

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

Sources for Rapp-Hodgkin Syndrome