MCID: LPR012
MIFTS: 52

Leopard Syndrome 1 malady

Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Cardiovascular diseases, Genetic diseases categories

Summaries for Leopard Syndrome 1

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46OMIM, 32MalaCards
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MalaCards: Leopard Syndrome 1, also known as leopard syndrome, is related to leopard syndrome and hypertrophic cardiomyopathy, and has symptoms including structural anomalies of the genital system, pulmonary valve atresia/stenosis/narrowing and sterility/hypofertility. An important gene associated with Leopard Syndrome 1 is PTPN11 (protein tyrosine phosphatase, non-receptor type 11), and among its related pathways are IL-3 Signaling Pathway and Signalling to RAS. The compounds sb 590885 and gw 5074 have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and eye, and related mouse phenotypes are tumorigenesis and craniofacial.

Description from OMIM:46 151100,611554,613707

Aliases & Classifications for Leopard Syndrome 1

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Sources:
48Orphanet, 60UMLS, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
leopard syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

leopard syndrome 1 46
leopard syndrome 48 60
familial multiple lentigines syndrome 48
cardiomyopathic lentiginosis 48


External Ids:

MESH via Orphanet35 C537116, D044542
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet57 111306001, 403537000
UMLS via Orphanet61 C0175704, C2931424

Related Diseases for Leopard Syndrome 1

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Leopard Syndrome 1 family:

Leopard Syndrome Ptpn11-Related Leopard Syndrome
Raf1-Related Leopard Syndrome Braf-Related Leopard Syndrome
Leopard Syndrome 2 Leopard Syndrome 3

Diseases related to Leopard Syndrome 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1leopard syndrome31.5PTPN11, RAF1
2hypertrophic cardiomyopathy30.7PTPN11
3noonan syndrome30.7BRAF, RAF1, PTPN11
4neurofibromatosis30.4PTPN11
5congenital heart defect29.9PTPN11, RAF1, BRAF
6leopard syndrome 210.2
7leopard syndrome 310.2
8familial generalized lentiginosis10.2
9granular cell tumor10.1
10familial hypertrophic cardiomyopathy10.1
11acute leukemia10.1
12leukemia10.1
13melanoma10.1
14image syndrome10.1
15ptpn11-related leopard syndrome10.1
16raf1-related leopard syndrome10.1
17braf-related leopard syndrome10.1
18juvenile myelomonocytic leukemia10.0PTPN11
19marfan syndrome10.0
20primary pulmonary hypertension10.0
21axonal neuropathy10.0
22wolff-parkinson-white syndrome10.0
23cerebritis10.0
24adult syndrome10.0
25autism spectrum disorder10.0
26endocarditis10.0
27hypertension10.0
28infective endocarditis10.0
29lipomatosis10.0
30lymphoblastic leukemia10.0
31neuropathy10.0
32respiratory failure10.0
33noonan/ costello/ leopard/ cardiofaciocutaneous syndrome multi-gene panels10.0
34noonan syndrome 510.0RAF1
35cardiofaciocutaneous syndrome10.0PTPN11, BRAF
36short stature10.0PTPN11, BRAF
37costello syndrome10.0PTPN11, BRAF
38polycystic kidney disease, autosomal dominant10.0RAF1, BRAF
39thyroid medullary carcinoma10.0RAF1, BRAF
40kidney rhabdoid cancer10.0RAF1, BRAF
41thyroid adenoma10.0RAF1, BRAF
42papillary thyroid carcinoma10.0BRAF, RAF1
43sarcoma10.0RAF1, BRAF
44hepatitis c10.0PTPN11, RAF1
45glioblastoma multiforme10.0RAF1, PTPN11
46myeloid leukemia10.0PTPN11, RAF1
47lung adenocarcinoma10.0RAF1, BRAF
48pancreatic cancer10.0RAF1, BRAF
49chronic myeloid leukemia10.0RAF1, PTPN11
50developmental disabilities10.0PTPN11, RAF1, BRAF

Graphical network of the top 20 diseases related to Leopard Syndrome 1:



Diseases related to leopard syndrome 1

Clinical Features for Leopard Syndrome 1

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

151100,611554,613707

Clinical synopsis from OMIM:

151100

Symptoms:

48 (show all 47)
  • structural anomalies of the genital system
  • pulmonary valve atresia/stenosis/narrowing
  • sterility/hypofertility
  • arterial aneurism (excluding aorta)
  • face/facial anomalies
  • endocardium anomalies/fibroelastosis/endocarditis
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • intrauterine growth retardation
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • hypospadias/epispadias/bent penis
  • myeloproliferative syndrome/chronic leukemia
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • rippled skin
  • neuroblastoma
  • atrioventricular canal
  • hyperelastic skin/cutaneous hyperlaxity
  • melanoma
  • triangular face
  • excessive freckling
  • spina bifida occulta
  • myelodysplastic syndrome
  • webbed neck/pterygium colli
  • sensorineural deafness/hearing loss
  • pectus carinatum
  • broad nose/nasal bridge
  • pigmented naevi/naevus pigmentosus/lentigo
  • autosomal dominant inheritance
  • ptosis
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • scoliosis
  • pectus excavatum
  • low set ears/posteriorly rotated ears
  • short stature/dwarfism/nanism
  • absent/hypotonic/flaccid abdominal wall muscles
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • angor pectoris/myocardial infarction
  • anomalies of ear and hearing
  • congenital cardiac anomaly/malformation/cardiopathy
  • ectopic/horseshoe/fused kidneys
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • cardiac rhythm disorder/arrhythmia
  • cardiomyopathy/hypertrophic/dilated
  • brachycephaly/flat occiput
  • abnormal cry/voice/phonation disorder/nasal speech
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • hypertelorism

Drugs & Therapeutics for Leopard Syndrome 1

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Leopard Syndrome 1

Drug clinical trials:

Search ClinicalTrials for Leopard Syndrome 1

Search NIH Clinical Center for Leopard Syndrome 1

Search CenterWatch for Leopard Syndrome 1

Genetic Tests for Leopard Syndrome 1

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Anatomical Context for Leopard Syndrome 1

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32MalaCards
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MalaCards organs/tissues related to Leopard Syndrome 1:

32
Skin, Testes, Eye, Kidney, Heart

Animal Models for Leopard Syndrome 1 or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Leopard Syndrome 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7PTPN11, RAF1, BRAF
2MP:00053828.6BRAF, RAF1, PTPN11
3MP:00053708.6PTPN11, RAF1, BRAF
4MP:00053888.5BRAF, RAF1, PTPN11
5MP:00107718.5PTPN11, RAF1, BRAF
6MP:00053698.4PTPN11, RAF1, BRAF
7MP:00053918.2BRAF, RAF1, PTPN11

Publications for Leopard Syndrome 1

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Genetic Variations for Leopard Syndrome 1

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Leopard Syndrome 1:

62
id Symbol AA change Variation ID SNP ID
1PTPN11p.Tyr279CysVAR_015614
2PTPN11p.Thr472MetVAR_015621
3PTPN11p.Tyr279SerVAR_027188
4PTPN11p.Ala465ThrVAR_027190
5PTPN11p.Gly468AlaVAR_027191
6PTPN11p.Arg502LeuVAR_027192
7PTPN11p.Arg502TrpVAR_027193
8PTPN11p.Gln510ProVAR_027194
9PTPN11p.Gln514ProVAR_027196

Expression for genes affiliated with Leopard Syndrome 1

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leopard Syndrome 1

Search GEO for disease gene expression data for Leopard Syndrome 1.

Pathways for genes affiliated with Leopard Syndrome 1

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Sources:
37NCBI BioSystems Database, 53Reactome, 49PharmGKB, 59Tocris Bioscience, 12EMD Millipore, 51QIAGEN, 29KEGG, 52R&D Systems, 4Cell Signaling Technology
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Pathways related to Leopard Syndrome 1 according to GeneCards/GeneDecks:

(show top 50)    (show all 76)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9PTPN11
2
Hide members
9.1BRAF, RAF1
3
Hide members
9.1RAF1, BRAF
4
Hide members
9.1BRAF, RAF1
59.1RAF1, BRAF
6
Hide members
9.1RAF1, BRAF
79.1BRAF, RAF1
8
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9.1RAF1, BRAF
99.1RAF1, BRAF
109.1BRAF, RAF1
119.1RAF1, BRAF
129.1BRAF, RAF1
139.1RAF1, BRAF
149.1BRAF, RAF1
159.1BRAF, RAF1
169.1BRAF, RAF1
179.1BRAF, RAF1
189.1BRAF, RAF1
19
Hide members
9.1RAF1, BRAF
209.1RAF1, BRAF
219.1BRAF, RAF1
229.1RAF1, BRAF
23
G-protein signaling Cross-talk between Ras-family GTPases
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9.1RAF1, BRAF
24
Hide members
9.1BRAF, RAF1
25
Hide members
9.1RAF1, BRAF
269.1RAF1, BRAF
279.0RAF1, PTPN11
289.0PTPN11, RAF1
29
Hide members
9.0PTPN11, RAF1
30
Immune response IL-2 activation and signaling pathway
Hide members
9.0RAF1, PTPN11
31
Hide members
9.0RAF1, PTPN11
329.0RAF1, PTPN11
339.0PTPN11, RAF1
34
Hide members
9.0PTPN11, RAF1
35
Development EPO-induced Jak-STAT pathway
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9.0PTPN11, RAF1
36
Development Leptin signaling via JAK/STAT and MAPK cascades
Hide members
9.0RAF1, PTPN11
379.0RAF1, PTPN11
38
Immune response IL-6 signaling pathway
Hide members
9.0RAF1, PTPN11
399.0PTPN11, RAF1
408.5BRAF, PTPN11, RAF1
41
Hide members
8.5RAF1, BRAF, PTPN11
428.5PTPN11, RAF1, BRAF
43
Translation Insulin regulation of translation
Hide members
8.5PTPN11, RAF1, BRAF
44
Hide members
8.5RAF1, PTPN11, BRAF
45
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
8.5PTPN11, BRAF, RAF1
46
Hide members
8.5PTPN11, BRAF, RAF1
478.5PTPN11, BRAF, RAF1
48
Hide members
8.5PTPN11, BRAF, RAF1
49
Hide members
8.5PTPN11, BRAF, RAF1
50
Hide members
8.5PTPN11, BRAF, RAF1

Compounds for genes affiliated with Leopard Syndrome 1

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Sources:
59Tocris Bioscience, 44Novoseek, 11DrugBank, 49PharmGKB
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Compounds related to Leopard Syndrome 1 according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1sb 590885599.5RAF1, BRAF
2gw 5074599.5RAF1, BRAF
3l-779,450599.5RAF1, BRAF
4gdc 0879599.5RAF1, BRAF
5gw-5074449.5BRAF, RAF1
6zm 33637244 5910.5RAF1, BRAF
7Dabrafenib119.5RAF1, BRAF
8Regorafenib119.4BRAF, RAF1
917-(allylamino)-17-demethoxygeldanamycin449.4RAF1, BRAF
10depsipeptide449.4BRAF, RAF1
11sorafenib44 49 1111.4RAF1, BRAF
12sodium orthovanadate44 5910.3PTPN11, RAF1
13geldanamycin44 49 59 1112.1RAF1, BRAF
14valine449.1RAF1, BRAF
15ag 1478449.1RAF1, PTPN11
16herbimycin a44 599.9PTPN11, RAF1
17imatinib44 49 1110.9PTPN11, RAF1, BRAF
18agar448.9BRAF, RAF1, PTPN11
19sb 20358044 599.9PTPN11, RAF1, BRAF
20rapamycin448.9BRAF, RAF1, PTPN11
21ly294002448.8PTPN11, RAF1, BRAF
22wortmannin448.8BRAF, RAF1, PTPN11
23isoproterenol44 119.8RAF1, BRAF
24phosphoinositide448.8PTPN11, RAF1, BRAF
25forskolin44 49 1110.8PTPN11, RAF1, BRAF
26cisplatin44 49 59 1111.8PTPN11, RAF1, BRAF
27oligonucleotide448.7BRAF, RAF1, PTPN11
28vegf448.7PTPN11, RAF1, BRAF
29phosphatidylinositol448.7BRAF, RAF1, PTPN11
30threonine448.7PTPN11, RAF1, BRAF
31alanine448.6PTPN11, RAF1, BRAF

GO Terms for genes affiliated with Leopard Syndrome 1

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16Gene Ontology
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Biological processes related to Leopard Syndrome 1 according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1activation of MAPKK activityGO:0001869.2RAF1, BRAF
2positive regulation of peptidyl-serine phosphorylationGO:0331389.2BRAF, RAF1
3heart developmentGO:0075079.0PTPN11, RAF1
4epidermal growth factor receptor signaling pathwayGO:0071739.0PTPN11, RAF1
5insulin receptor signaling pathwayGO:0082868.9PTPN11, RAF1
6Fc-epsilon receptor signaling pathwayGO:0380958.7PTPN11, RAF1
7fibroblast growth factor receptor signaling pathwayGO:0085438.7PTPN11, RAF1, BRAF
8neurotrophin TRK receptor signaling pathwayGO:0480118.7PTPN11, RAF1, BRAF

Molecular functions related to Leopard Syndrome 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein kinase activityGO:0046729.1RAF1, BRAF

Products for genes affiliated with Leopard Syndrome 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leopard Syndrome 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet