MCID: LPR012
MIFTS: 39

Leopard Syndrome 1 malady

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

Summaries for Leopard Syndrome 1

Sources:
47OMIM, 33MalaCards
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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 hypertelorism, sensorineural deafness/hearing loss and hyperelastic skin/cutaneous hyperlaxity. 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 Post NMDA receptor activation events. The compounds sb 590885 and gw 5074 have been mentioned in the context of this disorder. Related mouse phenotypes are tumorigenesis and craniofacial.

Description from OMIM:47 151100,611554,613707

Aliases & Classifications for Leopard Syndrome 1

Sources:
49Orphanet, 61UMLS, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Genetic
Anatomical: Eye, Ear, Skin, Cardiovascular


Characteristics (Orphanet epidemiological data):

49
leopard syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

leopard syndrome 1 47
leopard syndrome 49 61
familial multiple lentigines syndrome 49
cardiomyopathic lentiginosis 49


External Ids:

MESH via Orphanet36 C537116, D044542
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet58 111306001, 403537000
UMLS via Orphanet62 C0175704, C2931424

Related Diseases for Leopard Syndrome 1

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the leopard syndrome family:

leopard syndrome 2 leopard syndrome 3
leopard syndrome 1

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

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1leopard syndrome31.5PTPN11, RAF1
2hypertrophic cardiomyopathy30.7PTPN11
3noonan syndrome30.7PTPN11, RAF1, BRAF
4neurofibromatosis30.4PTPN11
5short stature29.9BRAF, PTPN11
6n syndrome10.7
7leopard syndrome 310.3
8leopard syndrome 210.2
9familial generalized lentiginosis10.2
10granular cell tumor10.1
11acute leukemia10.1
12young syndrome10.1
13ptpn11-related leopard syndrome10.1
14raf1-related leopard syndrome10.1
15braf-related leopard syndrome10.1
16marfan syndrome10.0
17primary pulmonary hypertension10.0
18axonal neuropathy10.0
19wolff-parkinson-white syndrome10.0
20werner syndrome10.0
21familial hypertrophic cardiomyopathy10.0
22adult syndrome10.0
23autism spectrum disorder10.0
243-m syndrome10.0
25short syndrome10.0
26acute myelomonocytic leukemia10.0
27corpus callosum agenesis10.0
28schizencephaly10.0
29steatocystoma multiplex10.0
30neurofibromatosis-noonan syndrome10.0
31noonan/ costello/ leopard/ cardiofaciocutaneous syndrome multi-gene panels10.0
32image syndrome10.0
33syncope10.0
34melanoma, malignant, somatic10.0
35non-familial hypertrophic cardiomyopathy10.0
36scalp syndrome10.0
37choristoma10.0
38acute motor axonal neuropathy10.0
39acute motor-sensory axonal neuropathy10.0
40juvenile myelomonocytic leukemia10.0PTPN11
41noonan syndrome 510.0RAF1
42cardiofaciocutaneous syndrome10.0PTPN11, BRAF
43costello syndrome10.0PTPN11, BRAF
44polycystic kidney disease, autosomal dominant10.0RAF1, BRAF
45thyroid medullary carcinoma10.0BRAF, RAF1
46kidney rhabdoid cancer10.0BRAF, RAF1
47thyroid adenoma10.0BRAF, RAF1
48papillary thyroid carcinoma10.0BRAF, RAF1
49sarcoma10.0RAF1, BRAF
50hepatitis c10.0PTPN11, RAF1

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



Diseases related to leopard syndrome 1

Clinical Features for Leopard Syndrome 1

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

151100,611554,613707

Clinical synopsis from OMIM:

151100

Symptoms:

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

Drugs & Therapeutics for Leopard Syndrome 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Anatomical Context for Leopard Syndrome 1

Animal Models for Leopard Syndrome 1 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Leopard Syndrome 1:

37
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

Genetic Variations for Leopard Syndrome 1

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Leopard Syndrome 1:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 54Reactome, 50PharmGKB, 60Tocris Bioscience, 52QIAGEN, 12EMD Millipore, 30KEGG, 53R&D Systems, 4Cell Signaling Technology
See all sources

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
59.1BRAF, RAF1
6
Hide members
9.1RAF1, BRAF
79.1BRAF, RAF1
8
Hide members
9.1BRAF, RAF1
99.1BRAF, RAF1
109.1RAF1, BRAF
119.1RAF1, BRAF
129.1RAF1, BRAF
139.1BRAF, RAF1
149.1RAF1, BRAF
159.1RAF1, BRAF
169.1BRAF, RAF1
179.1BRAF, RAF1
189.1BRAF, RAF1
19
Hide members
9.1RAF1, BRAF
209.1BRAF, RAF1
219.1RAF1, BRAF
229.1RAF1, BRAF
23
G-protein signaling Cross-talk between Ras-family GTPases
Hide members
9.1BRAF, RAF1
24
Hide members
9.1RAF1, BRAF
25
Hide members
9.1RAF1, BRAF
269.1RAF1, BRAF
279.0PTPN11, RAF1
289.0RAF1, PTPN11
29
Hide members
9.0RAF1, PTPN11
30
Immune response IL-2 activation and signaling pathway
Hide members
9.0PTPN11, RAF1
31
Hide members
9.0RAF1, PTPN11
329.0PTPN11, RAF1
339.0PTPN11, RAF1
34
Hide members
9.0PTPN11, RAF1
35
Development EPO-induced Jak-STAT pathway
Hide members
9.0PTPN11, RAF1
369.0RAF1, PTPN11
37
Development Leptin signaling via JAK/STAT and MAPK cascades
Hide members
9.0RAF1, PTPN11
38
Immune response IL-6 signaling pathway
Hide members
9.0PTPN11, RAF1
399.0PTPN11, RAF1
40
Hide members
8.5BRAF, RAF1, PTPN11
418.5PTPN11, RAF1, BRAF
42
Hide members
8.5PTPN11, RAF1, BRAF
43
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
8.5BRAF, RAF1, PTPN11
44
Hide members
8.5PTPN11, RAF1, BRAF
45
Translation Insulin regulation of translation
Hide members
8.5PTPN11, RAF1, BRAF
468.5PTPN11, RAF1, BRAF
47
Hide members
8.5PTPN11, RAF1, BRAF
48
Hide members
8.5BRAF, RAF1, PTPN11
49
Hide members
8.5BRAF, RAF1, PTPN11
508.5PTPN11, RAF1, BRAF

Compounds for genes affiliated with Leopard Syndrome 1

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Leopard Syndrome 1 according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1sb 590885609.5RAF1, BRAF
2gw 5074609.5RAF1, BRAF
3l-779,450609.5RAF1, BRAF
4gdc 0879609.5RAF1, BRAF
5gw-5074459.5BRAF, RAF1
6zm 33637245 6010.5RAF1, BRAF
7Dabrafenib119.5RAF1, BRAF
8Regorafenib119.4BRAF, RAF1
917-(allylamino)-17-demethoxygeldanamycin459.4RAF1, BRAF
10depsipeptide459.4BRAF, RAF1
11sorafenib45 50 1111.4RAF1, BRAF
12sodium orthovanadate45 6010.3PTPN11, RAF1
13geldanamycin45 50 60 1112.1RAF1, BRAF
14valine459.1RAF1, BRAF
15ag 1478459.1RAF1, PTPN11
16herbimycin a45 609.9PTPN11, RAF1
17imatinib45 50 1110.9PTPN11, RAF1, BRAF
18agar458.9BRAF, RAF1, PTPN11
19sb 20358045 609.9PTPN11, RAF1, BRAF
20rapamycin458.9BRAF, RAF1, PTPN11
21ly294002458.8PTPN11, RAF1, BRAF
22wortmannin458.8BRAF, RAF1, PTPN11
23isoproterenol45 119.8RAF1, BRAF
24phosphoinositide458.8PTPN11, RAF1, BRAF
25forskolin45 50 1110.8PTPN11, RAF1, BRAF
26cisplatin45 50 60 1111.8PTPN11, RAF1, BRAF
27oligonucleotide458.7BRAF, RAF1, PTPN11
28vegf458.7PTPN11, RAF1, BRAF
29phosphatidylinositol458.7BRAF, RAF1, PTPN11
30threonine458.7PTPN11, RAF1, BRAF
31alanine458.6PTPN11, RAF1, BRAF

GO Terms for genes affiliated with Leopard Syndrome 1

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leopard Syndrome 1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet