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 ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Lprd3 ⁵⁷ ⁷⁵

Leopard Syndrome, Type 3 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

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

HPO:

³²

leopard syndrome 3:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613707

MedGen ⁴² C3150971

MeSH ⁴⁴ D044542

UMLS ⁷³ C3150971

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Summaries for Leopard Syndrome 3

UniProtKB/Swiss-Prot : ⁷⁵ 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 hypertelorism and low-set ears

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Leopard Syndrome 3:

³² (show all 22)

#	Description	HPO Frequency	HPO Source Accession
1	hypertelorism ³²		HP:0000316
2	low-set ears ³²		HP:0000369
3	short neck ³²		HP:0000470
4	intellectual disability ³²		HP:0001249
5	seizures ³²		HP:0001250
6	delayed skeletal maturation ³²		HP:0002750
7	depressed nasal bridge ³²		HP:0005280
8	sensorineural hearing impairment ³²		HP:0000407
9	neonatal hypotonia ³²		HP:0001319
10	short stature ³²		HP:0004322
11	cognitive impairment ³²	occasional (7.5%)	HP:0100543
12	hyperkeratosis ³²		HP:0000962
13	webbed neck ³²		HP:0000465
14	shield chest ³²		HP:0000914
15	multiple cafe-au-lait spots ³²		HP:0007565
16	tetralogy of fallot ³²		HP:0001636
17	curly hair ³²	occasional (7.5%)	HP:0002212
18	multiple lentigines ³²		HP:0001003
19	posteriorly rotated ears ³²		HP:0000358
20	numerous nevi ³²		HP:0001054
21	abnormal mitral valve morphology ³²		HP:0001633
22	abnormal aortic valve morphology ³²		HP:0001646

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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 ²⁹	BRAF

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Anatomical Context for Leopard Syndrome 3

MalaCards organs/tissues related to Leopard Syndrome 3:

⁴¹

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	1352.59	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	19416762 20301557

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Variations for Leopard Syndrome 3

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

⁷⁵

#	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_004333.4(BRAF): c.722C> T (p.Thr241Met)	single nucleotide variant	Pathogenic	rs387906660	GRCh37	Chromosome 7, 140501350: 140501350
2	BRAF	NM_004333.4(BRAF): c.722C> T (p.Thr241Met)	single nucleotide variant	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

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

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³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia