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

LPRD2 MCID: LPR011 MIFTS: 35	Leopard Syndrome 2 (LPRD2) Categories: Cardiovascular diseases, Ear diseases, Genetic diseases, Reproductive diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Leopard Syndrome 2

MalaCards integrated aliases for Leopard Syndrome 2:

Name: Leopard Syndrome 2 ⁵⁷ ¹² ⁷² ²⁹ ¹³ ⁶ ⁷⁰

Noonan Syndrome with Multiple Lentigines 2 ¹² ¹⁵

Lprd2 ⁵⁷ ⁷²

Leopard Syndrome, Type 2 ³⁹

Characteristics:

HPO:

³¹

leopard syndrome 2:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080549

OMIM® ⁵⁷ 611554

OMIM Phenotypic Series ⁵⁷ PS151100

MeSH ⁴⁴ D044542

MedGen ⁴¹ C1969056

UMLS ⁷⁰ C1969056

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Summaries for Leopard Syndrome 2

UniProtKB/Swiss-Prot : ⁷² 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, also known as noonan syndrome with multiple lentigines 2, is related to noonan syndrome and noonan-related syndrome and lentigines. An important gene associated with Leopard Syndrome 2 is RAF1 (Raf-1 Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Development FGFR signaling pathway. Related phenotypes are short neck and depressed nasal bridge

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

More information from OMIM: 611554 PS151100

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Related Diseases for Leopard Syndrome 2

Diseases in the Leopard Syndrome 1 family:

Leopard Syndrome 2

Leopard Syndrome 3

Diseases related to Leopard Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	noonan syndrome and noonan-related syndrome	9.9	RAF1 PTPN11
2	lentigines	9.9	RAF1 PTPN11
3	leopard syndrome 1	9.9	RAF1 PTPN11
4	noonan syndrome 3	9.9	RAF1 PTPN11
5	noonan syndrome with multiple lentigines	9.9	RAF1 PTPN11
6	cardiofaciocutaneous syndrome 1	9.9	RAF1 PTPN11
7	noonan syndrome 5	9.9	RAF1 MKRN2
8	pilocytic astrocytoma	9.9	RAF1 PTPN11
9	neurofibromatosis, type i	9.8	RAF1 PTPN11
10	gastric adenocarcinoma	9.8	RAF1 PTPN11
11	juvenile myelomonocytic leukemia	9.7	RAF1 PTPN11
12	rasopathy	9.6	RAF1 PTPN11

Graphical network of the top 20 diseases related to Leopard Syndrome 2:

Sources

Symptoms & Phenotypes for Leopard Syndrome 2

Human phenotypes related to Leopard Syndrome 2:

³¹ (show all 18)

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

Clinical features from OMIM®:

611554 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Leopard Syndrome 2:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	8.8	MKRN2 PTPN11 RAF1

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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

Sources

Anatomical Context for Leopard Syndrome 2

Sources

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. ⁶ ⁵⁷	Pandit B...Gelb BD	17603483	2007
2	Germline gain-of-function mutations in RAF1 cause Noonan syndrome. ⁶	Razzaque MA...Matsuoka R	17603482	2007
3	Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. ⁶¹	Kuburovic V...Kuburovic N	22389993	2011

Sources

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
1	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1353.68	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Summaries Variants (show sections)
2	MKRN2	Makorin Ring Finger Protein 2	Protein Coding	7.34	GeneCards inferred via : Variants (show sections)
3	SERPIND1	Serpin Family D Member 1	Protein Coding	6.79	DISEASES inferred ¹⁵
4	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	5.67	DISEASES inferred ¹⁵

Sources

Variations for Leopard Syndrome 2

ClinVar genetic disease variations for Leopard Syndrome 2:

⁶ (show top 50) (show all 77)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	RAF1	NM_001354689.3(RAF1):c.776C>A (p.Ser259Tyr)	SNV	Pathogenic	44633	rs397516827	GRCh37: 3:12645693-12645693 GRCh38: 3:12604194-12604194
2	RAF1	NM_001354689.3(RAF1):c.505G>C (p.Gly169Arg)	SNV	Pathogenic	265535	rs886039607	GRCh37: 3:12650341-12650341 GRCh38: 3:12608842-12608842
3	RAF1	NM_001354689.3(RAF1):c.788T>A (p.Val263Asp)	SNV	Pathogenic	496189	rs397516830	GRCh37: 3:12645681-12645681 GRCh38: 3:12604182-12604182
4	RAF1	NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val)	SNV	Pathogenic	13960	rs80338797	GRCh37: 3:12626123-12626123 GRCh38: 3:12584624-12584624
5	RAF1	NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu)	SNV	Pathogenic	13957	rs80338796	GRCh37: 3:12645699-12645699 GRCh38: 3:12604200-12604200
6	RAF1	NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu)	SNV	Pathogenic	13957	rs80338796	GRCh37: 3:12645699-12645699 GRCh38: 3:12604200-12604200
7	RAF1	NM_001354689.3(RAF1):c.781C>G (p.Pro261Ala)	SNV	Pathogenic	40605	rs121434594	GRCh37: 3:12645688-12645688 GRCh38: 3:12604189-12604189
8	RAF1	NM_001354689.3(RAF1):c.1142G>C (p.Gly381Ala)	SNV	Likely pathogenic	40613	rs397516813	GRCh37: 3:12641216-12641216 GRCh38: 3:12599717-12599717
9	RAF1	NM_001354689.3(RAF1):c.61G>A (p.Val21Met)	SNV	Likely pathogenic	978721		GRCh37: 3:12660160-12660160 GRCh38: 3:12618661-12618661
10	RAF1	NM_001354689.3(RAF1):c.773C>G (p.Thr258Arg)	SNV	Likely pathogenic	801936	rs1575573330	GRCh37: 3:12645696-12645696 GRCh38: 3:12604197-12604197
11	RAF1	NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln)	SNV	Conflicting interpretations of pathogenicity	40586	rs145611571	GRCh37: 3:12660099-12660099 GRCh38: 3:12618600-12618600
12	RAF1	NM_001354689.3(RAF1):c.601A>G (p.Ile201Val)	SNV	Uncertain significance	432929	rs757700986	GRCh37: 3:12647779-12647779 GRCh38: 3:12606280-12606280
13	RAF1	NM_001354689.3(RAF1):c.226A>G (p.Met76Val)	SNV	Uncertain significance	181507	rs730880999	GRCh37: 3:12653543-12653543 GRCh38: 3:12612044-12612044
14	RAF1	NM_001354689.3(RAF1):c.600T>C (p.Thr200=)	SNV	Uncertain significance	508664	rs779808613	GRCh37: 3:12647780-12647780 GRCh38: 3:12606281-12606281
15	RAF1	NM_001354689.3(RAF1):c.231C>T (p.Ser77=)	SNV	Uncertain significance	509193	rs1450510914	GRCh37: 3:12653538-12653538 GRCh38: 3:12612039-12612039
16	RAF1	NM_001354689.3(RAF1):c.*73T>A	SNV	Uncertain significance	899432		GRCh37: 3:12625940-12625940 GRCh38: 3:12584441-12584441
17	RAF1	NM_001354689.3(RAF1):c.654A>G (p.Arg218=)	SNV	Uncertain significance	899635		GRCh37: 3:12647726-12647726 GRCh38: 3:12606227-12606227
18	RAF1	NM_001354689.3(RAF1):c.-27+7G>A	SNV	Uncertain significance	40578	rs886057916	GRCh37: 3:12705305-12705305 GRCh38: 3:12663806-12663806
19	RAF1	NM_001354689.3(RAF1):c.21T>C (p.Ala7=)	SNV	Uncertain significance	343104	rs886057915	GRCh37: 3:12660200-12660200 GRCh38: 3:12618701-12618701
20	RAF1	NM_001354689.3(RAF1):c.124G>A (p.Ala42Thr)	SNV	Uncertain significance	448930	rs200856000	GRCh37: 3:12660097-12660097 GRCh38: 3:12618598-12618598
21	RAF1	NM_001354689.3(RAF1):c.1874C>T (p.Ser625Phe)	SNV	Uncertain significance	181512	rs730881004	GRCh37: 3:12626146-12626146 GRCh38: 3:12584647-12584647
22	RAF1	NM_001354689.3(RAF1):c.*643C>G	SNV	Uncertain significance	899385		GRCh37: 3:12625370-12625370 GRCh38: 3:12583871-12583871
23	RAF1	NM_001354689.3(RAF1):c.*630A>G	SNV	Uncertain significance	899386		GRCh37: 3:12625383-12625383 GRCh38: 3:12583884-12583884
24	RAF1	NM_001354689.3(RAF1):c.*628G>T	SNV	Uncertain significance	899387		GRCh37: 3:12625385-12625385 GRCh38: 3:12583886-12583886
25	RAF1	NM_001354689.3(RAF1):c.-201C>A	SNV	Uncertain significance	40577	rs532668125	GRCh37: 3:12705486-12705486 GRCh38: 3:12663987-12663987
26	RAF1	NM_001354689.3(RAF1):c.*410A>G	SNV	Uncertain significance	900510		GRCh37: 3:12625603-12625603 GRCh38: 3:12584104-12584104
27	RAF1	NM_001354689.3(RAF1):c.-209G>A	SNV	Uncertain significance	177838	rs727504351	GRCh37: 3:12705494-12705494 GRCh38: 3:12663995-12663995
28	RAF1	NM_001354689.3(RAF1):c.-264C>G	SNV	Uncertain significance	900848		GRCh37: 3:12705549-12705549 GRCh38: 3:12664050-12664050
29	RAF1 , MKRN2	NM_001354689.3(RAF1):c.*841C>T	SNV	Uncertain significance	902116		GRCh37: 3:12625172-12625172 GRCh38: 3:12583673-12583673
30	RAF1	NM_001354689.3(RAF1):c.1352A>C (p.Lys451Thr)	SNV	Uncertain significance	902234		GRCh37: 3:12632375-12632375 GRCh38: 3:12590876-12590876
31	RAF1	NC_000003.12:g.12664140G>C	SNV	Uncertain significance	902521		GRCh37: 3:12705639-12705639 GRCh38: 3:12664140-12664140
32	RAF1 , MKRN2	NM_001354689.3(RAF1):c.*840A>T	SNV	Uncertain significance	903003		GRCh37: 3:12625173-12625173 GRCh38: 3:12583674-12583674
33	RAF1	NM_001354689.3(RAF1):c.*706C>T	SNV	Uncertain significance	903004		GRCh37: 3:12625307-12625307 GRCh38: 3:12583808-12583808
34	RAF1	NM_001354689.3(RAF1):c.*647G>T	SNV	Uncertain significance	903005		GRCh37: 3:12625366-12625366 GRCh38: 3:12583867-12583867
35	RAF1	NM_001354689.3(RAF1):c.*120C>A	SNV	Uncertain significance	903051		GRCh37: 3:12625893-12625893 GRCh38: 3:12584394-12584394
36	RAF1	NM_001354689.3(RAF1):c.993C>T (p.Pro331=)	SNV	Uncertain significance	477681	rs1553613022	GRCh37: 3:12641708-12641708 GRCh38: 3:12600209-12600209
37	RAF1	NM_001354689.3(RAF1):c.903T>A (p.Ile301=)	SNV	Uncertain significance	903109		GRCh37: 3:12641906-12641906 GRCh38: 3:12600407-12600407
38	RAF1	NM_001354689.3(RAF1):c.-53G>A	SNV	Uncertain significance	903300		GRCh37: 3:12705338-12705338 GRCh38: 3:12663839-12663839
39	RAF1	NM_001354689.3(RAF1):c.-59C>G	SNV	Uncertain significance	903301		GRCh37: 3:12705344-12705344 GRCh38: 3:12663845-12663845
40	RAF1	NM_001354689.3(RAF1):c.-107C>T	SNV	Uncertain significance	903302		GRCh37: 3:12705392-12705392 GRCh38: 3:12663893-12663893
41	RAF1	NM_001354689.3(RAF1):c.332G>A (p.Arg111His)	SNV	Uncertain significance	930654		GRCh37: 3:12650823-12650823 GRCh38: 3:12609324-12609324
42	RAF1	NM_001354689.3(RAF1):c.-110G>A	SNV	Uncertain significance	343105	rs886057917	GRCh37: 3:12705395-12705395 GRCh38: 3:12663896-12663896
43	RAF1	NM_001354689.3(RAF1):c.-181T>C	SNV	Uncertain significance	343108	rs886057920	GRCh37: 3:12705466-12705466 GRCh38: 3:12663967-12663967
44	RAF1	NM_001354689.3(RAF1):c.*627C>T	SNV	Uncertain significance	343094	rs879160471	GRCh37: 3:12625386-12625386 GRCh38: 3:12583887-12583887
45	RAF1	NM_001354689.3(RAF1):c.-139T>G	SNV	Uncertain significance	343106	rs886057918	GRCh37: 3:12705424-12705424 GRCh38: 3:12663925-12663925
46	RAF1	NM_001354689.3(RAF1):c.*162T>C	SNV	Uncertain significance	343100	rs886057913	GRCh37: 3:12625851-12625851 GRCh38: 3:12584352-12584352
47	RAF1	NM_001354689.3(RAF1):c.-146C>G	SNV	Uncertain significance	343107	rs886057919	GRCh37: 3:12705431-12705431 GRCh38: 3:12663932-12663932
48	RAF1	NM_001354689.3(RAF1):c.*640T>C	SNV	Uncertain significance	343093	rs759464247	GRCh37: 3:12625373-12625373 GRCh38: 3:12583874-12583874
49	RAF1	NM_001354689.3(RAF1):c.*113T>G	SNV	Uncertain significance	343102	rs886057914	GRCh37: 3:12625900-12625900 GRCh38: 3:12584401-12584401
50	RAF1	NM_001354689.3(RAF1):c.-204G>C	SNV	Uncertain significance	40576	rs547543588	GRCh37: 3:12705489-12705489 GRCh38: 3:12663990-12663990

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

⁷²

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

Sources

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

Pathways related to Leopard Syndrome 2 according to GeneCards Suite gene sharing:

(show all 20)

#	Super pathways	Score	Top Affiliating Genes
1	Response to elevated platelet cytosolic Ca2+ ⁶⁵ Show member pathways Disinhibition of SNARE formation ⁶⁵ Hemostasis ⁶⁵ Platelet activation, signaling and aggregation ⁶⁵ Platelet degranulation ⁶⁵	12.84	SERPIND1 RAF1 PTPN11
2	Development FGFR signaling pathway ²³ Show member pathways Development FGF-family signaling ²³ Development Flt3 signaling ²³ FGF Pathway ⁶³	11.99	RAF1 PTPN11
3	Proteoglycans in cancer ³⁶	11.9	RAF1 PTPN11
4	G-protein signaling Ras family GTPases in kinase cascades (scheme) ²³ Show member pathways Activation of the AP-1 family of transcription factors ⁶⁵ Immune response Oncostatin M signaling via MAPK in human cells ²³ MAPK Cascade ¹ Nanoparticle-mediated activation of receptor signaling ¹ Oncostatin M Signaling Pathway ¹	11.88	RAF1 PTPN11
5	Axon guidance ³⁶	11.83	RAF1 PTPN11
6	C-type lectin receptor signaling pathway ³⁶ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁴	11.79	RAF1 PTPN11
7	EGF/EGFR Signaling Pathway ¹	11.75	RAF1 PTPN11
8	Kit receptor signaling pathway ¹ Show member pathways IL-3 Signaling Pathway ¹ Signaling events mediated by Stem cell factor receptor (c-Kit) ¹	11.73	RAF1 PTPN11
9	Development EGFR signaling via small GTPases ²³ Show member pathways Development EGFR signaling via PIP3 ²³ Development PDGF signaling via MAPK cascades ²³ PDGF Pathway ¹	11.69	RAF1 PTPN11
10	Brain-Derived Neurotrophic Factor (BDNF) signaling pathway ¹	11.65	RAF1 PTPN11
11	IL-2 Signaling Pathway ¹ Show member pathways IL2-mediated signaling events ¹ IL-5 Signaling Pathway ¹	11.6	RAF1 PTPN11
12	MAP Kinase Signaling ⁴	11.51	RAF1 PTPN11
13	Development EPO-induced Jak-STAT pathway ²³ Show member pathways EPO Receptor Signaling ¹ EPO signaling pathway ¹	11.42	RAF1 PTPN11
14	Immune response IL-2 activation and signaling pathway ²³ Show member pathways Immune response IL-3 activation and signaling pathway ²³	11.28	RAF1 PTPN11
15	Interleukin-11 Signaling Pathway ¹	11.01	RAF1 PTPN11
16	Immune response_Role of integrins in NK cells cytotoxicity ²³	10.97	RAF1 PTPN11
17	Telomere Extension by Telomerase ⁶³ Show member pathways XAV939 inhibits tankyrase, stabilizing AXIN ⁶⁵	10.73	RAF1 PTPN11
18	Immune response_IL-6 signaling pathway ²³	10.67	RAF1 PTPN11
19	Development_Leptin signaling via JAK/STAT and MAPK cascades ²³ Show member pathways phospho-PLA2 pathway ⁶⁵	10.43	RAF1 PTPN11
20	IGF1 pathway ¹	10.07	RAF1 PTPN11

Sources

GO Terms for Leopard Syndrome 2

Biological processes related to Leopard Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	platelet activation	GO:0030168	8.96	RAF1 PTPN11
2	neurotrophin TRK receptor signaling pathway	GO:0048011	8.62	RAF1 PTPN11

Sources

Sources for Leopard Syndrome 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Leopard Syndrome 2 (LPRD2)

Aliases & Classifications for Leopard Syndrome 2

MalaCards integrated aliases for Leopard Syndrome 2:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Leopard Syndrome 2

Related Diseases for Leopard Syndrome 2

Diseases in the Leopard Syndrome 1 family:

Diseases related to Leopard Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Leopard Syndrome 2:

Symptoms & Phenotypes for Leopard Syndrome 2

Human phenotypes related to Leopard Syndrome 2:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Leopard Syndrome 2:

Drugs & Therapeutics for Leopard Syndrome 2

Genetic Tests for Leopard Syndrome 2

Genetic tests related to Leopard Syndrome 2:

Anatomical Context for Leopard Syndrome 2

Publications for Leopard Syndrome 2

Articles related to Leopard Syndrome 2:

Genes for Leopard Syndrome 2

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

Variations for Leopard Syndrome 2

ClinVar genetic disease variations for Leopard Syndrome 2:

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

Expression for Leopard Syndrome 2

Pathways for Leopard Syndrome 2

Pathways related to Leopard Syndrome 2 according to GeneCards Suite gene sharing:

GO Terms for Leopard Syndrome 2

Biological processes related to Leopard Syndrome 2 according to GeneCards Suite gene sharing:

Sources for Leopard Syndrome 2