LPRD2
MCID: LPR011
MIFTS: 24

Leopard Syndrome 2 (LPRD2)

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

Aliases & Classifications for Leopard Syndrome 2

MalaCards integrated aliases for Leopard Syndrome 2:

Name: Leopard Syndrome 2 56 12 73 29 13 6 71
Lprd2 56 73
Leopard Syndrome, Type 2 39

Characteristics:

HPO:

31
leopard syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Leopard Syndrome 2

UniProtKB/Swiss-Prot : 73 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

Disease Ontology : 12 A LEOPARD syndrome that has material basis in heterozygous mutation in the RAF1 gene on chromosome 3p25.

More information from OMIM: 611554 PS151100

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:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 low-set ears 31 HP:0000369
3 short neck 31 HP:0000470
4 mandibular prognathia 31 HP:0000303
5 depressed nasal bridge 31 HP:0005280
6 short stature 31 HP:0004322
7 downslanted palpebral fissures 31 HP:0000494
8 cafe-au-lait spot 31 HP:0000957
9 hypertrophic cardiomyopathy 31 HP:0001639
10 dolichocephaly 31 HP:0000268
11 dry skin 31 HP:0000958
12 thick lower lip vermilion 31 HP:0000179
13 epicanthus 31 HP:0000286
14 cubitus valgus 31 HP:0002967
15 webbed neck 31 HP:0000465
16 curly hair 31 HP:0002212
17 multiple lentigines 31 HP:0001003
18 abnormality of the sternum 31 HP:0000766

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 29 RAF1

Anatomical Context for Leopard Syndrome 2

MalaCards organs/tissues related to Leopard Syndrome 2:

40
Skin

Publications for Leopard Syndrome 2

Articles related to Leopard Syndrome 2:

# Title Authors PMID Year
1
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 56 6
17603483 2007
2
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 6
25173338 2014
3
Noonan Syndrome with Multiple Lentigines 6
20301557 2007
4
Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 6
17603482 2007
5
Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. 61
22389993 2011

Variations for Leopard Syndrome 2

ClinVar genetic disease variations for Leopard Syndrome 2:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAF1 NM_002880.3(RAF1):c.770C>T (p.Ser257Leu)SNV Pathogenic 13957 rs80338796 3:12645699-12645699 3:12604200-12604200
2 RAF1 NM_002880.3(RAF1):c.1837C>G (p.Leu613Val)SNV Pathogenic 13960 rs80338797 3:12626123-12626123 3:12584624-12584624
3 RAF1 NM_002880.3(RAF1):c.781C>G (p.Pro261Ala)SNV Pathogenic/Likely pathogenic 40605 rs121434594 3:12645688-12645688 3:12604189-12604189
4 RAF1 NM_002880.3(RAF1):c.505G>C (p.Gly169Arg)SNV Pathogenic/Likely pathogenic 265535 rs886039607 3:12650341-12650341 3:12608842-12608842
5 RAF1 NM_002880.3(RAF1):c.788T>A (p.Val263Asp)SNV Pathogenic/Likely pathogenic 496189 rs397516830 3:12645681-12645681 3:12604182-12604182
6 RAF1 NM_002880.3(RAF1):c.601A>G (p.Ile201Val)SNV Uncertain significance 432929 rs757700986 3:12647779-12647779 3:12606280-12606280
7 RAF1 NM_002880.3(RAF1):c.1814C>T (p.Ser605Phe)SNV Uncertain significance 181512 rs730881004 3:12626146-12626146 3:12584647-12584647

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

73
# Symbol AA change Variation ID SNP ID
1 RAF1 p.Ser257Leu VAR_037808 rs80338796
2 RAF1 p.Leu613Val VAR_037821 rs80338797

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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