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 ⁵⁸ ⁷⁶ ³⁰ ¹³ ⁶ ⁷⁴

Lprd3 ⁵⁸ ⁷⁶

Leopard Syndrome, Type 3 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

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

HPO:

³³

leopard syndrome 3:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 613707

MeSH ⁴⁵ D044542

MedGen ⁴³ C3150971

UMLS ⁷⁴ C3150971

Sources

Summaries for Leopard Syndrome 3

UniProtKB/Swiss-Prot : ⁷⁶ LEOPARD syndrome 3: 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 bone, and related phenotypes are cognitive impairment and curly hair

Description from OMIM: 613707

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Related Diseases for Leopard Syndrome 3

Diseases in the Leopard Syndrome family:

Leopard Syndrome 1	Leopard Syndrome 2
Leopard Syndrome 3

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Symptoms & Phenotypes for Leopard Syndrome 3

Human phenotypes related to Leopard Syndrome 3:

³³ (show all 22)

#	Description	HPO Frequency	HPO Source Accession
1	cognitive impairment ³³	occasional (7.5%)	HP:0100543
2	curly hair ³³	occasional (7.5%)	HP:0002212
3	hypertelorism ³³		HP:0000316
4	low-set ears ³³		HP:0000369
5	short neck ³³		HP:0000470
6	intellectual disability ³³		HP:0001249
7	seizures ³³		HP:0001250
8	delayed skeletal maturation ³³		HP:0002750
9	depressed nasal bridge ³³		HP:0005280
10	sensorineural hearing impairment ³³		HP:0000407
11	neonatal hypotonia ³³		HP:0001319
12	short stature ³³		HP:0004322
13	hyperkeratosis ³³		HP:0000962
14	webbed neck ³³		HP:0000465
15	shield chest ³³		HP:0000914
16	multiple cafe-au-lait spots ³³		HP:0007565
17	tetralogy of fallot ³³		HP:0001636
18	multiple lentigines ³³		HP:0001003
19	posteriorly rotated ears ³³		HP:0000358
20	numerous nevi ³³		HP:0001054
21	abnormal mitral valve morphology ³³		HP:0001633
22	abnormal aortic valve morphology ³³		HP:0001646

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
hypertelorism

Head And Neck Neck:
short neck

Growth Height:
short stature

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

Head And Neck Nose:
depressed nasal bridge

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

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

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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 ³⁰	BRAF

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Anatomical Context for Leopard Syndrome 3

MalaCards organs/tissues related to Leopard Syndrome 3:

⁴²

Bone

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Publications for Leopard Syndrome 3

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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	PubmedIds
1	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1327.43	Molecular basis known ⁵⁸ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	19416762 20301557 18042262 (more) 19206169

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Variations for Leopard Syndrome 3

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

⁷⁶

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

ClinVar genetic disease variations for Leopard Syndrome 3:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BRAF	NM_004333.5(BRAF): c.722C> T (p.Thr241Met)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387906660	GRCh37	Chromosome 7, 140501350: 140501350
2	BRAF	NM_004333.5(BRAF): c.722C> T (p.Thr241Met)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387906660	GRCh38	Chromosome 7, 140801550: 140801550
3	BRAF	NM_004333.4(BRAF): c.721A> C (p.Thr241Pro)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387906661	GRCh37	Chromosome 7, 140501351: 140501351
4	BRAF	NM_004333.4(BRAF): c.721A> C (p.Thr241Pro)	single nucleotide variant	Pathogenic/Likely pathogenic	rs387906661	GRCh38	Chromosome 7, 140801551: 140801551
5	BRAF	NM_004333.4(BRAF): c.735A> C (p.Leu245Phe)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397507466	GRCh37	Chromosome 7, 140501337: 140501337
6	BRAF	NM_004333.4(BRAF): c.735A> C (p.Leu245Phe)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397507466	GRCh38	Chromosome 7, 140801537: 140801537

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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 BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

LPRD3 MCID: LPR007 MIFTS: 20	Leopard Syndrome 3 (LPRD3) Categories: Cardiovascular diseases, Ear diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

Leopard Syndrome 3 (LPRD3)

Aliases & Classifications for Leopard Syndrome 3

MalaCards integrated aliases for Leopard Syndrome 3:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Leopard Syndrome 3

Related Diseases for Leopard Syndrome 3

Diseases in the Leopard Syndrome 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

MalaCards organs/tissues related to Leopard Syndrome 3:

Publications for Leopard Syndrome 3

Genes for Leopard Syndrome 3

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

Variations for Leopard Syndrome 3

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

ClinVar 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