MCID: LPR011
MIFTS: 19

Leopard Syndrome 2

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

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:



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

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

Clinical features from OMIM:

611554

Human phenotypes related to Leopard Syndrome 2:

32 (show all 18)
# 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 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

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 29 RAF1

Anatomical Context for Leopard Syndrome 2

MalaCards organs/tissues related to Leopard Syndrome 2:

41
Skin

Publications for Leopard Syndrome 2

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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