Leopard Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leopard Syndrome 2

MalaCards integrated aliases for Leopard Syndrome 2:

Name: Leopard Syndrome 2 ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Lprd2 ⁵⁷ ⁷⁵

Leopard Syndrome, Type 2 ⁴⁰

Characteristics:

HPO:

³²

leopard syndrome 2:
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 611554

MedGen ⁴² C1969056

MeSH ⁴⁴ D044542

UMLS ⁷³ C1969056

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Summaries for Leopard Syndrome 2

UniProtKB/Swiss-Prot : ⁷⁵ LEOPARD syndrome 2: 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 2, is also known as lprd2. An important gene associated with Leopard Syndrome 2 is RAF1 (Raf-1 Proto-Oncogene, Serine/Threonine Kinase). Affiliated tissues include skin, and related phenotypes are hypertelorism and low-set ears

Description from OMIM: 611554

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Related Diseases for Leopard Syndrome 2

Diseases in the Leopard Syndrome family:

Leopard Syndrome 1	Leopard Syndrome 2
Leopard Syndrome 3

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Symptoms & Phenotypes for Leopard Syndrome 2

Clinical features from OMIM:

611554

Human phenotypes related to Leopard Syndrome 2:

³² (show all 18)

#	Description	HPO Source Accession
1	hypertelorism ³²	HP:0000316
2	low-set ears ³²	HP:0000369
3	short neck ³²	HP:0000470
4	mandibular prognathia ³²	HP:0000303
5	depressed nasal bridge ³²	HP:0005280
6	short stature ³²	HP:0004322
7	hypertrophic cardiomyopathy ³²	HP:0001639
8	thick lower lip vermilion ³²	HP:0000179
9	epicanthus ³²	HP:0000286
10	dolichocephaly ³²	HP:0000268
11	dry skin ³²	HP:0000958
12	cubitus valgus ³²	HP:0002967
13	webbed neck ³²	HP:0000465
14	downslanted palpebral fissures ³²	HP:0000494
15	curly hair ³²	HP:0002212
16	multiple lentigines ³²	HP:0001003
17	abnormality of the sternum ³²	HP:0000766
18	cafe-au-lait spot ³²	HP:0000957

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Drugs & Therapeutics for Leopard Syndrome 2

Search Clinical Trials , NIH Clinical Center for Leopard Syndrome 2

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Genetic Tests for Leopard Syndrome 2

Genetic tests related to Leopard Syndrome 2:

#	Genetic test	Affiliating Genes
1	Leopard Syndrome 2 ²⁹	RAF1

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Anatomical Context for Leopard Syndrome 2

MalaCards organs/tissues related to Leopard Syndrome 2:

⁴¹

Skin

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Publications for Leopard Syndrome 2

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Genes for Leopard Syndrome 2

Genes related to Leopard Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1362.73	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Summaries Variants (show sections)	20301557 20301303 20876176 (more) 17603482 17603483

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Variations for Leopard Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Leopard Syndrome 2:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	RAF1	p.Ser257Leu	VAR_037808	rs80338796
2	RAF1	p.Leu613Val	VAR_037821	rs80338797

ClinVar genetic disease variations for Leopard Syndrome 2:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RAF1	NM_002880.3(RAF1): c.770C> T (p.Ser257Leu)	single nucleotide variant	Pathogenic	rs80338796	GRCh37	Chromosome 3, 12645699: 12645699
2	RAF1	NM_002880.3(RAF1): c.770C> T (p.Ser257Leu)	single nucleotide variant	Pathogenic	rs80338796	GRCh38	Chromosome 3, 12604200: 12604200
3	RAF1	NM_002880.3(RAF1): c.1837C> G (p.Leu613Val)	single nucleotide variant	Pathogenic	rs80338797	GRCh37	Chromosome 3, 12626123: 12626123
4	RAF1	NM_002880.3(RAF1): c.1837C> G (p.Leu613Val)	single nucleotide variant	Pathogenic	rs80338797	GRCh38	Chromosome 3, 12584624: 12584624
5	RAF1	NM_002880.3(RAF1): c.505G> C (p.Gly169Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs886039607	GRCh37	Chromosome 3, 12650341: 12650341
6	RAF1	NM_002880.3(RAF1): c.505G> C (p.Gly169Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs886039607	GRCh38	Chromosome 3, 12608842: 12608842

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Expression for Leopard Syndrome 2

Search GEO for disease gene expression data for Leopard Syndrome 2.

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Pathways for Leopard Syndrome 2

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GO Terms for Leopard Syndrome 2

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Sources for Leopard Syndrome 2

¹ BioSystems

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⁴¹ MalaCards

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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia