Leopard Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leopard Syndrome 3

MalaCards integrated aliases for Leopard Syndrome 3:

Name: Leopard Syndrome 3 ⁵⁷ ¹¹ ⁷³ ²⁸ ¹² ⁵ ⁷¹

Lprd3 ⁵⁷ ⁷³

Noonan Syndrome with Multiple Lentigines 3 ¹¹

Leopard Syndrome, Type 3 ³⁸

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
two unrelated patients have been reported (last curated may 2015)

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Reproductive diseases Ear diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

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Summaries for Leopard Syndrome 3

UniProtKB/Swiss-Prot: ⁷³ A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness.

MalaCards based summary: Leopard Syndrome 3, is also known as lprd3. An important gene associated with Leopard Syndrome 3 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). Affiliated tissues include skeletal muscle, skin and heart, and related phenotypes are macrocephaly and intellectual disability

Disease Ontology: ¹¹ A Noonan syndrome with multiple lentigines that has material basis in heterozygous mutation in the BRAF gene on chromosome 7q34.

More information from OMIM: 613707 PS151100

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Related Diseases for Leopard Syndrome 3

Diseases in the Leopard Syndrome 1 family:

Leopard Syndrome 2

Leopard Syndrome 3

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Symptoms & Phenotypes for Leopard Syndrome 3

Human phenotypes related to Leopard Syndrome 3:

³⁰ (show all 31)

#	Description	HPO Frequency	HPO Source Accession
1	macrocephaly ³⁰	Very rare (1%)	HP:0000256
2	intellectual disability ³⁰	Very rare (1%)	HP:0001249
3	seizure ³⁰	Very rare (1%)	HP:0001250
4	short neck ³⁰	Very rare (1%)	HP:0000470
5	delayed skeletal maturation ³⁰	Very rare (1%)	HP:0002750
6	depressed nasal bridge ³⁰	Very rare (1%)	HP:0005280
7	hypertelorism ³⁰	Very rare (1%)	HP:0000316
8	sensorineural hearing impairment ³⁰	Very rare (1%)	HP:0000407
9	neonatal hypotonia ³⁰	Very rare (1%)	HP:0001319
10	short stature ³⁰	Very rare (1%)	HP:0004322
11	prominent forehead ³⁰	Very rare (1%)	HP:0011220
12	dry skin ³⁰	Very rare (1%)	HP:0000958
13	cubitus valgus ³⁰	Very rare (1%)	HP:0002967
14	wide intermamillary distance ³⁰	Very rare (1%)	HP:0006610
15	low-set ears ³⁰	Very rare (1%)	HP:0000369
16	webbed neck ³⁰	Very rare (1%)	HP:0000465
17	shield chest ³⁰	Very rare (1%)	HP:0000914
18	low posterior hairline ³⁰	Very rare (1%)	HP:0002162
19	dolichocephaly ³⁰	Very rare (1%)	HP:0000268
20	downslanted palpebral fissures ³⁰	Very rare (1%)	HP:0000494
21	tetralogy of fallot ³⁰	Very rare (1%)	HP:0001636
22	multiple lentigines ³⁰	Very rare (1%)	HP:0001003
23	posteriorly rotated ears ³⁰	Very rare (1%)	HP:0000358
24	curly hair ³⁰	Very rare (1%)	HP:0002212
25	narrow forehead ³⁰	Very rare (1%)	HP:0000341
26	numerous nevi ³⁰	Very rare (1%)	HP:0001054
27	epidermal hyperkeratosis ³⁰	Very rare (1%)	HP:0007543
28	few cafe-au-lait spots ³⁰	Very rare (1%)	HP:0007429
29	palpebral thickening ³⁰	Very rare (1%)	HP:0030939
30	abnormal aortic valve morphology ³⁰		HP:0001646
31	abnormal mitral valve morphology ³⁰		HP:0001633

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Neck:
short neck

Head And Neck Eyes:
hypertelorism

Skin Nails Hair Skin:
hyperkeratosis
cafe-au-lait spots
lentigines
pigmented lesions

Cardiovascular Heart:
tetralogy of fallot
conduction defects
cardiac defects
valvular defects

Neurologic Central Nervous System:
seizures (in some patients)
cognitive defects (in some patients)

Chest External Features:
broad chest
thoracic defects

Head And Neck Nose:
depressed nasal bridge

Growth Height:
short stature

Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss, sensorineural

Skeletal:
delayed bone age
reduced bone density

Growth Other:
poor growth

Skin Nails Hair Hair:
curly hair (in some patients)

Clinical features from OMIM®:

613707 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Leopard Syndrome 3

Search Clinical Trials, NIH Clinical Center for Leopard Syndrome 3

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Genetic Tests for Leopard Syndrome 3

Genetic tests related to Leopard Syndrome 3:

#	Genetic test	Affiliating Genes
1	Leopard Syndrome 3 ²⁸	BRAF

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Anatomical Context for Leopard Syndrome 3

Organs/tissues related to Leopard Syndrome 3:

MalaCards : Skeletal Muscle, Skin, Heart, Bone, Testis

ODiseA: Testis, Skeletal Muscle, Heart-Atrium, Heart-Ventricle, Heart, Skin

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Publications for Leopard Syndrome 3

Articles related to Leopard Syndrome 3:

#	Title	Authors	PMID	Year
1	Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence. ⁵⁷ ⁵	Koudova M...Zenker M	19416762	2009
2	Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. ⁵⁷ ⁵	Sarkozy A...Tartaglia M	19206169	2009
3	Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. ⁵⁷ ⁵	Schulz AL...Zenker M	18042262	2008
4	[Progressive cardiomyopathic lentiginosis (LEOPARD syndrome) in 3 patients, combined with Marfan syndrome]. ⁶²	Torok L...Budai S	2343617	1990

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Genes for Leopard Syndrome 3

Genes related to Leopard Syndrome 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1332.64	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	18042262 19206169 19416762

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Variations for Leopard Syndrome 3

ClinVar genetic disease variations for Leopard Syndrome 3:

⁵ (show all 50)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	BRAF	NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	SNV	Pathogenic	29805	rs387906660	GRCh37: 7:140501350-140501350 GRCh38: 7:140801550-140801550
2	BRAF	NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	SNV	Pathogenic Pathogenic Not Provided	29807	rs387906661	GRCh37: 7:140501351-140501351 GRCh38: 7:140801551-140801551
3	BRAF	NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)	SNV	Pathogenic Likely Pathogenic	40347	rs397507466	GRCh37: 7:140501337-140501337 GRCh38: 7:140801537-140801537
4	BRAF	NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	SNV	Pathogenic Pathogenic	13973	rs180177035	GRCh37: 7:140501302-140501302 GRCh38: 7:140801502-140801502
5	BRAF	NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	SNV	Likely Pathogenic	13981	rs180177042	GRCh37: 7:140449165-140449165 GRCh38: 7:140749365-140749365
6	BRAF	NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)	SNV	Likely Pathogenic	44811	rs397516895	GRCh37: 7:140453192-140453192 GRCh38: 7:140753392-140753392
7	BRAF	NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys)	SNV	Uncertain Significance	561797	rs1562939198	GRCh37: 7:140449139-140449139 GRCh38: 7:140749339-140749339
8	BRAF	NM_004333.6(BRAF):c.1237G>A (p.Val413Met)	SNV	Uncertain Significance	44799	rs377093637	GRCh37: 7:140482898-140482898 GRCh38: 7:140783098-140783098
9	BRAF	NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)	SNV	Uncertain Significance	372564	rs557241012	GRCh37: 7:140534476-140534476 GRCh38: 7:140834676-140834676
10	BRAF	NM_004333.6(BRAF):c.*7T>C	SNV	Uncertain Significance	162794	rs727502903	GRCh37: 7:140434390-140434390 GRCh38: 7:140734590-140734590
11	BRAF	NM_004333.6(BRAF):c.1024A>G (p.Ile342Val)	SNV	Uncertain Significance	359048	rs201481342	GRCh37: 7:140494224-140494224 GRCh38: 7:140794424-140794424
12	BRAF	NM_004333.6(BRAF):c.981-14C>A	SNV	Uncertain Significance	359049	rs200002171	GRCh37: 7:140494281-140494281 GRCh38: 7:140794481-140794481
13	BRAF	NM_004333.6(BRAF):c.940T>A (p.Ser314Thr)	SNV	Uncertain Significance	1709831		GRCh37: 7:140500202-140500202 GRCh38: 7:140800402-140800402
14	BRAF	NM_004333.6(BRAF):c.1943A>G (p.Glu648Gly)	SNV	Uncertain Significance	908790	rs1797600118	GRCh37: 7:140449136-140449136 GRCh38: 7:140749336-140749336
15	BRAF	NM_004333.6(BRAF):c.563G>C (p.Arg188Thr)	SNV	Uncertain Significance	908852	rs1803936771	GRCh37: 7:140508737-140508737 GRCh38: 7:140808937-140808937
16	BRAF	NM_004333.6(BRAF):c.469G>A (p.Val157Ile)	SNV	Uncertain Significance	503529	rs1258111302	GRCh37: 7:140534444-140534444 GRCh38: 7:140834644-140834644
17	BRAF	NM_004333.6(BRAF):c.316G>A (p.Gly106Arg)	SNV	Uncertain Significance	505121	rs749247588	GRCh37: 7:140534597-140534597 GRCh38: 7:140834797-140834797
18	BRAF	NM_004333.6(BRAF):c.1569A>G (p.Pro523=)	SNV	Uncertain Significance	909644	rs759843625	GRCh37: 7:140476837-140476837 GRCh38: 7:140777037-140777037
19	BRAF	NM_004333.6(BRAF):c.72G>C (p.Glu24Asp)	SNV	Uncertain Significance	133720	rs587778114	GRCh37: 7:140624432-140624432 GRCh38: 7:140924632-140924632
20	BRAF	NM_004333.6(BRAF):c.*216T>C	SNV	Uncertain Significance	909590	rs184804021	GRCh37: 7:140434181-140434181 GRCh38: 7:140734381-140734381
21	BRAF	NM_004333.6(BRAF):c.*203A>G	SNV	Uncertain Significance	910513	rs1796208696	GRCh37: 7:140434194-140434194 GRCh38: 7:140734394-140734394
22	BRAF	NM_004333.6(BRAF):c.*143A>G	SNV	Uncertain Significance	910514	rs1585929994	GRCh37: 7:140434254-140434254 GRCh38: 7:140734454-140734454
23	BRAF	NM_004333.6(BRAF):c.*124G>C	SNV	Uncertain Significance	910515	rs1317771158	GRCh37: 7:140434273-140434273 GRCh38: 7:140734473-140734473
24	BRAF	NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro)	SNV	Uncertain Significance	910575	rs923739321	GRCh37: 7:140482955-140482955 GRCh38: 7:140783155-140783155
25	BRAF	NM_004333.6(BRAF):c.1066C>G (p.Gln356Glu)	SNV	Uncertain Significance	910576	rs151308995	GRCh37: 7:140494182-140494182 GRCh38: 7:140794382-140794382
26	BRAF	NM_004333.6(BRAF):c.1056T>A (p.Asp352Glu)	SNV	Uncertain Significance	910577	rs1398817791	GRCh37: 7:140494192-140494192 GRCh38: 7:140794392-140794392
27	BRAF	NM_004333.6(BRAF):c.-12C>T	SNV	Uncertain Significance	910631	rs1390547132	GRCh37: 7:140624515-140624515 GRCh38: 7:140924715-140924715
28	BRAF	NM_004333.6(BRAF):c.-56C>T	SNV	Uncertain Significance	910632	rs867823794	GRCh37: 7:140624559-140624559 GRCh38: 7:140924759-140924759
29	BRAF	NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp)	SNV	Uncertain Significance	543985	rs1554400237	GRCh37: 7:140482945-140482945 GRCh38: 7:140783145-140783145
30	BRAF	NM_004333.6(BRAF):c.*3C>T	SNV	Uncertain Significance	359043	rs746680490	GRCh37: 7:140434394-140434394 GRCh38: 7:140734594-140734594
31	BRAF	NM_004333.6(BRAF):c.64G>A (p.Asp22Asn)	SNV	Uncertain Significance	40335	rs397507456	GRCh37: 7:140624440-140624440 GRCh38: 7:140924640-140924640
32	BRAF	NM_004333.6(BRAF):c.2196C>G (p.Ser732=)	SNV	Uncertain Significance	417227	rs142592480	GRCh37: 7:140434502-140434502 GRCh38: 7:140734702-140734702
33	BRAF	NM_004333.6(BRAF):c.1023A>G (p.Pro341=)	SNV	Uncertain Significance	512959	rs56092510	GRCh37: 7:140494225-140494225 GRCh38: 7:140794425-140794425
34	BRAF	NM_004333.6(BRAF):c.1166G>A (p.Arg389His)	SNV	Uncertain Significance	372627	rs577372072	GRCh37: 7:140487359-140487359 GRCh38: 7:140787559-140787559
35	BRAF	NM_004333.6(BRAF):c.36G>A (p.Ala12=)	SNV	Likely Benign	40333	rs397507454	GRCh37: 7:140624468-140624468 GRCh38: 7:140924668-140924668
36	BRAF	NM_004333.6(BRAF):c.1227A>G (p.Ser409=)	SNV	Likely Benign	40360	rs145035762	GRCh37: 7:140482908-140482908 GRCh38: 7:140783108-140783108
37	BRAF	NM_004333.6(BRAF):c.375T>G (p.Ser125=)	SNV	Likely Benign	44825	rs201507202	GRCh37: 7:140534538-140534538 GRCh38: 7:140834738-140834738
38	BRAF	NM_004333.6(BRAF):c.708C>T (p.Asn236=)	SNV	Benign	44827	rs138333692	GRCh37: 7:140507763-140507763 GRCh38: 7:140807963-140807963
39	BRAF	NM_004333.6(BRAF):c.1068A>G (p.Gln356=)	SNV	Benign	44788	rs143335467	GRCh37: 7:140494180-140494180 GRCh38: 7:140794380-140794380
40	BRAF	NM_004333.6(BRAF):c.-5A>G	SNV	Benign	136536	rs71645936	GRCh37: 7:140624508-140624508 GRCh38: 7:140924708-140924708
41	BRAF	NM_004333.6(BRAF):c.*387G>A	SNV	Benign	359041	rs114105685	GRCh37: 7:140434010-140434010 GRCh38: 7:140734210-140734210
42	BRAF	NM_004333.6(BRAF):c.2127+3A>G	SNV	Benign	41447	rs371976102	GRCh37: 7:140439609-140439609 GRCh38: 7:140739809-140739809
43	BRAF	NM_004333.6(BRAF):c.1929A>G (p.Gly643=)	SNV	Benign	40391	rs9648696	GRCh37: 7:140449150-140449150 GRCh38: 7:140749350-140749350
44	BRAF	NM_004333.6(BRAF):c.78G>T (p.Glu26Asp)	SNV	Benign	40337	rs371877084	GRCh37: 7:140624426-140624426 GRCh38: 7:140924626-140924626
45	BRAF	NM_004333.6(BRAF):c.1332G>A (p.Arg444=)	SNV	Benign	40362	rs56101602	GRCh37: 7:140481476-140481476 GRCh38: 7:140781676-140781676
46	BRAF	NM_004333.6(BRAF):c.2235A>G (p.Leu745=)	SNV	Benign	40399	rs56046546	GRCh37: 7:140434463-140434463 GRCh38: 7:140734663-140734663
47	BRAF	NM_004333.6(BRAF):c.-19C>T	SNV	Benign	41445	rs71645935	GRCh37: 7:140624522-140624522 GRCh38: 7:140924722-140924722
48	BRAF	NM_004333.6(BRAF):c.1383A>G (p.Gln461=)	SNV	Benign	40363	rs56216404	GRCh37: 7:140481425-140481425 GRCh38: 7:140781625-140781625
49	BRAF	NM_004333.6(BRAF):c.1694+14G>A	SNV	Benign	44809	rs184144181	GRCh37: 7:140476698-140476698 GRCh38: 7:140776898-140776898
50	BRAF	NM_004333.6(BRAF):c.*111C>T	SNV	Benign	359042	rs539860876	GRCh37: 7:140434286-140434286 GRCh38: 7:140734486-140734486

UniProtKB/Swiss-Prot genetic disease variations for Leopard Syndrome 3:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	BRAF	p.Thr241Pro	VAR_058621	rs387906661

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Expression for Leopard Syndrome 3

Search GEO for disease gene expression data for Leopard Syndrome 3.

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Pathways for Leopard Syndrome 3

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GO Terms for Leopard Syndrome 3

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Sources for Leopard Syndrome 3

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

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LPRD3 MCID: LPR007 MIFTS: 28	Leopard Syndrome 3 (LPRD3) Categories: Cardiovascular diseases, Ear diseases, Genetic diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Leopard Syndrome 3 (LPRD3)

Aliases & Classifications for Leopard Syndrome 3

MalaCards integrated aliases for Leopard Syndrome 3:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Leopard Syndrome 3

Related Diseases for Leopard Syndrome 3

Diseases in the Leopard Syndrome 1 family:

Symptoms & Phenotypes for Leopard Syndrome 3

Human phenotypes related to Leopard Syndrome 3:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Leopard Syndrome 3

Genetic Tests for Leopard Syndrome 3

Genetic tests related to Leopard Syndrome 3:

Anatomical Context for Leopard Syndrome 3

Organs/tissues related to Leopard Syndrome 3:

Publications for Leopard Syndrome 3

Articles related to Leopard Syndrome 3:

Genes for Leopard Syndrome 3

Genes related to Leopard Syndrome 3 (1 elite genes):

Variations for Leopard Syndrome 3

ClinVar genetic disease variations for Leopard Syndrome 3:

UniProtKB/Swiss-Prot genetic disease variations for Leopard Syndrome 3:

Expression for Leopard Syndrome 3

Pathways for Leopard Syndrome 3

GO Terms for Leopard Syndrome 3

Sources for Leopard Syndrome 3