LPRD2
MCID: LPR011
MIFTS: 17

Leopard Syndrome 2 (LPRD2)

Categories: Cardiovascular diseases, Ear diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Leopard Syndrome 2

MalaCards integrated aliases for Leopard Syndrome 2:

Name: Leopard Syndrome 2 58 76 30 13 6 74
Lprd2 58 76
Leopard Syndrome, Type 2 41

Characteristics:

HPO:

33
leopard syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Leopard Syndrome 2

UniProtKB/Swiss-Prot : 76 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

Related Diseases for Leopard Syndrome 2

Diseases in the Leopard Syndrome family:

Leopard Syndrome 1 Leopard Syndrome 2
Leopard Syndrome 3

Symptoms & Phenotypes for Leopard Syndrome 2

Human phenotypes related to Leopard Syndrome 2:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 low-set ears 33 HP:0000369
3 short neck 33 HP:0000470
4 mandibular prognathia 33 HP:0000303
5 depressed nasal bridge 33 HP:0005280
6 short stature 33 HP:0004322
7 hypertrophic cardiomyopathy 33 HP:0001639
8 thick lower lip vermilion 33 HP:0000179
9 epicanthus 33 HP:0000286
10 dolichocephaly 33 HP:0000268
11 dry skin 33 HP:0000958
12 cubitus valgus 33 HP:0002967
13 webbed neck 33 HP:0000465
14 downslanted palpebral fissures 33 HP:0000494
15 curly hair 33 HP:0002212
16 multiple lentigines 33 HP:0001003
17 abnormality of the sternum 33 HP:0000766
18 cafe-au-lait spot 33 HP:0000957

Clinical features from OMIM:

611554

Drugs & Therapeutics for Leopard Syndrome 2

Search Clinical Trials , NIH Clinical Center for Leopard Syndrome 2

Genetic Tests for Leopard Syndrome 2

Genetic tests related to Leopard Syndrome 2:

# Genetic test Affiliating Genes
1 Leopard Syndrome 2 30 RAF1

Anatomical Context for Leopard Syndrome 2

MalaCards organs/tissues related to Leopard Syndrome 2:

42
Skin

Publications for Leopard Syndrome 2

Articles related to Leopard Syndrome 2:

# Title Authors Year
1
Noonan syndrome: clinical features, diagnosis, and management guidelines. ( 20876176 )
2010
2
Germline gain-of-function mutations in RAF1 cause Noonan syndrome. ( 17603482 )
2007
3
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. ( 17603483 )
2007

Variations for Leopard Syndrome 2

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

76
# 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 (show all 14)
# 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.781C> G (p.Pro261Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121434594 GRCh37 Chromosome 3, 12645688: 12645688
6 RAF1 NM_002880.3(RAF1): c.781C> G (p.Pro261Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121434594 GRCh38 Chromosome 3, 12604189: 12604189
7 RAF1 NM_002880.3(RAF1): c.1814C> T (p.Ser605Phe) single nucleotide variant Uncertain significance rs730881004 GRCh37 Chromosome 3, 12626146: 12626146
8 RAF1 NM_002880.3(RAF1): c.1814C> T (p.Ser605Phe) single nucleotide variant Uncertain significance rs730881004 GRCh38 Chromosome 3, 12584647: 12584647
9 RAF1 NM_002880.3(RAF1): c.505G> C (p.Gly169Arg) single nucleotide variant Pathogenic/Likely pathogenic rs886039607 GRCh37 Chromosome 3, 12650341: 12650341
10 RAF1 NM_002880.3(RAF1): c.505G> C (p.Gly169Arg) single nucleotide variant Pathogenic/Likely pathogenic rs886039607 GRCh38 Chromosome 3, 12608842: 12608842
11 RAF1 NM_002880.3(RAF1): c.601A> G (p.Ile201Val) single nucleotide variant Uncertain significance rs757700986 GRCh37 Chromosome 3, 12647779: 12647779
12 RAF1 NM_002880.3(RAF1): c.601A> G (p.Ile201Val) single nucleotide variant Uncertain significance rs757700986 GRCh38 Chromosome 3, 12606280: 12606280
13 RAF1 NM_002880.3(RAF1): c.788T> A (p.Val263Asp) single nucleotide variant Pathogenic/Likely pathogenic rs397516830 GRCh38 Chromosome 3, 12604182: 12604182
14 RAF1 NM_002880.3(RAF1): c.788T> A (p.Val263Asp) single nucleotide variant Pathogenic/Likely pathogenic rs397516830 GRCh37 Chromosome 3, 12645681: 12645681

Expression for Leopard Syndrome 2

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

Pathways for Leopard Syndrome 2

GO Terms for Leopard Syndrome 2

Sources for Leopard Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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