MCID: LPR012
MIFTS: 54

Leopard Syndrome 1 malady

Genetic diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Rare diseases, Cardiovascular diseases, Neuronal diseases, Reproductive diseases categories
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Summaries for Leopard Syndrome 1

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MalaCards based summary: Leopard Syndrome 1, also known as cardiomyopathic lentiginosis, is related to leopard syndrome and neurofibromatosis, 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 mTOR signaling pathway and TSH signaling pathway. 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.

Descriptions from OMIM:46 151100,611554,613707

Aliases & Classifications for Leopard Syndrome 1

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Sources:
46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Leopard Syndrome 1, Aliases & Descriptions:

Name: Leopard Syndrome 1 46 62
Cardiomyopathic Lentiginosis 48 62
 
Leopard Syndrome 48 62
Familial Multiple Lentigines Syndrome 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
cardiomyopathic lentiginosis:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

MESH via Orphanet35 C537116, D044542
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C0175704, C2931424

Related Diseases for Leopard Syndrome 1

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Diseases in the Leopard Syndrome family:

Ptpn11-Related Leopard Syndrome Raf1-Related Leopard Syndrome
Braf-Related Leopard Syndrome 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 52)
idRelated DiseaseScoreTop Affiliating Genes
1leopard syndrome31.6RAF1, PTPN11
2neurofibromatosis30.4PTPN11, RAF1
3noonan syndrome30.2RAF1, BRAF, PTPN11
4short stature30.0BRAF, PTPN11
5melanoma29.7RAF1, BRAF, PTPN11
6hypertrophic cardiomyopathy10.5
7noonan syndrome 110.3PTPN11
8leopard syndrome 210.3
9leopard syndrome 310.3
10familial generalized lentiginosis10.2
11leukemia10.2
12granular cell tumor10.2
13ptpn11-related leopard syndrome10.2
14raf1-related leopard syndrome10.2
15braf-related leopard syndrome10.2
16cardiofaciocutaneous syndrome10.1BRAF, PTPN11
17costello syndrome10.1PTPN11, BRAF
18acute lymphoblastic leukemia10.0
19hypertension10.0
20obesity10.0
21pulmonary hypertension10.0
22axonal neuropathy10.0
23primary pulmonary hypertension10.0
24wolff-parkinson-white syndrome10.0
25cerebritis10.0
26autism spectrum disorder10.0
27endocarditis10.0
28infective endocarditis10.0
29lipomatosis10.0
30lymphoblastic leukemia10.0
31neuropathy10.0
32respiratory failure10.0
33acute myelomonocytic leukemia10.0
34neurofibromatosis-noonan syndrome10.0
35noonan-like/multiple giant cell lesion syndrome10.0
36partial agenesis of corpus callosum10.0
37schizencephaly10.0
38steatocystoma multiplex10.0
39syncope10.0
40nevus of ota10.0
41choristoma10.0
42thyroid adenoma10.0RAF1, BRAF
43polycystic kidney disease, autosomal dominant10.0RAF1, BRAF
44thyroid medullary carcinoma9.9RAF1, BRAF
45kidney rhabdoid cancer9.9RAF1, BRAF
46papillary thyroid carcinoma9.8BRAF, RAF1
47cholangiocarcinoma9.8RAF1, BRAF
48congenital heart disease9.7PTPN11, BRAF, RAF1
49developmental disabilities9.7RAF1, BRAF, PTPN11
50stomach cancer9.7RAF1, BRAF, PTPN11

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



Diseases related to leopard syndrome 1

Symptoms for Leopard Syndrome 1

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Symptoms by clinical synopsis from OMIM:

151100

Clinical features from OMIM:

151100,611554,613707

Symptoms:

48 (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

HPO human phenotypes related to Leopard Syndrome 1:

(show all 79)
id Description Frequency HPO Source Accession
1 hypertelorism hallmark (90%) HP:0000316
2 sensorineural hearing impairment hallmark (90%) HP:0000407
3 hyperextensible skin hallmark (90%) HP:0000974
4 melanocytic nevus hallmark (90%) HP:0000995
5 freckling hallmark (90%) HP:0001480
6 intrauterine growth retardation hallmark (90%) HP:0001511
7 abnormality of the pulmonary valve hallmark (90%) HP:0001641
8 myelodysplasia hallmark (90%) HP:0002863
9 abnormality of the pulmonary artery hallmark (90%) HP:0004414
10 arrhythmia hallmark (90%) HP:0011675
11 cryptorchidism typical (50%) HP:0000028
12 decreased fertility typical (50%) HP:0000144
13 abnormality of the nose typical (50%) HP:0000366
14 low-set, posteriorly rotated ears typical (50%) HP:0000368
15 webbed neck typical (50%) HP:0000465
16 ptosis typical (50%) HP:0000508
17 pectus excavatum typical (50%) HP:0000767
18 pectus carinatum typical (50%) HP:0000768
19 sprengel anomaly typical (50%) HP:0000912
20 abnormality of the mitral valve typical (50%) HP:0001633
21 hypertrophic cardiomyopathy typical (50%) HP:0001639
22 complete atrioventricular canal defect typical (50%) HP:0001674
23 pulmonic stenosis 40% HP:0001642
24 hypertrophic cardiomyopathy 20% HP:0001639
25 triangular face occasional (7.5%) HP:0000325
26 abnormality of the voice occasional (7.5%) HP:0001608
27 coronary artery disease occasional (7.5%) HP:0001677
28 leukemia occasional (7.5%) HP:0001909
29 aneurysm occasional (7.5%) HP:0002617
30 abnormality of calvarial morphology occasional (7.5%) HP:0002648
31 scoliosis occasional (7.5%) HP:0002650
32 melanoma occasional (7.5%) HP:0002861
33 neuroblastoma occasional (7.5%) HP:0003006
34 spina bifida occulta occasional (7.5%) HP:0003298
35 abnormality of the endocardium occasional (7.5%) HP:0004306
36 short stature occasional (7.5%) HP:0004322
37 aplasia/hypoplasia of the abdominal wall musculature occasional (7.5%) HP:0010318
38 abnormal localization of kidney occasional (7.5%) HP:0100542
39 cognitive impairment occasional (7.5%) HP:0100543
40 displacement of the external urethral meatus occasional (7.5%) HP:0100627
41 autosomal dominant inheritance HP:0000006
42 cryptorchidism HP:0000028
43 hypospadias HP:0000047
44 micropenis HP:0000054
45 unilateral renal agenesis HP:0000122
46 cleft palate HP:0000175
47 parietal bossing HP:0000242
48 epicanthus HP:0000286
49 mandibular prognathia HP:0000303
50 hypertelorism HP:0000316
51 triangular face HP:0000325
52 posteriorly rotated ears HP:0000358
53 low-set ears HP:0000369
54 sensorineural hearing impairment HP:0000407
55 protruding ear HP:0000411
56 depressed nasal ridge HP:0000457
57 webbed neck HP:0000465
58 short neck HP:0000470
59 strabismus HP:0000486
60 ptosis HP:0000508
61 pectus excavatum HP:0000767
62 pectus carinatum HP:0000768
63 delayed puberty HP:0000823
64 missing ribs HP:0000921
65 cafe-au-lait spot HP:0000957
66 intellectual disability, mild HP:0001256
67 subaortic stenosis HP:0001682
68 third degree atrioventricular block HP:0001709
69 kyphoscoliosis HP:0002751
70 cubitus valgus HP:0002967
71 limited elbow movement HP:0002996
72 spina bifida occulta HP:0003298
73 scapular winging HP:0003691
74 short stature HP:0004322
75 hyposmia HP:0004409
76 hypoplasia of the ovary HP:0008724
77 aplasia of the ovary HP:0010463
78 bundle branch block HP:0011710
79 delayed menarche HP:0012569

Drugs & Therapeutics for Leopard Syndrome 1

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Drug clinical trials:

Search ClinicalTrials for Leopard Syndrome 1

Search NIH Clinical Center for Leopard Syndrome 1

Genetic Tests for Leopard Syndrome 1

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Anatomical Context for Leopard Syndrome 1

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MalaCards organs/tissues related to Leopard Syndrome 1:

32
Skin, Testes, Eye, Heart, Kidney

Animal Models for Leopard Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Leopard Syndrome 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6RAF1, BRAF, PTPN11
2MP:00053828.6PTPN11, BRAF, RAF1
3MP:00053708.5RAF1, BRAF, PTPN11
4MP:00053698.5RAF1, BRAF, PTPN11
5MP:00053888.4PTPN11, BRAF, RAF1
6MP:00053918.2RAF1, BRAF, PTPN11

Publications for Leopard Syndrome 1

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Variations for Leopard Syndrome 1

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UniProtKB/Swiss-Prot genetic disease variations for Leopard Syndrome 1:

64
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

Clinvar genetic disease variations for Leopard Syndrome 1:

6 (show all 17)
id Gene Name Type Significance SNP ID Assembly Location
1PTPN11NM_002834.3(PTPN11): c.836A> G (p.Tyr279Cys)single nucleotide variantPathogenicrs121918456GRCh37Chr 12, 112910827: 112910827
2PTPN11NM_002834.3(PTPN11): c.1403C> T (p.Thr468Met)single nucleotide variantPathogenicrs121918457GRCh37Chr 12, 112926270: 112926270
3PTPN11NM_002834.3(PTPN11): c.1381G> A (p.Ala461Thr)single nucleotide variantPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
4PTPN11NM_002834.3(PTPN11): c.1391G> C (p.Gly464Ala)single nucleotide variantPathogenicrs121918469GRCh37Chr 12, 112926258: 112926258
5PTPN11NM_002834.3(PTPN11): c.1529A> C (p.Gln510Pro)single nucleotide variantPathogenicrs121918470GRCh37Chr 12, 112926909: 112926909
6RAF1NM_002880.3(RAF1): c.770C> T (p.Ser257Leu)single nucleotide variantPathogenicrs80338796GRCh37Chr 3, 12645699: 12645699
7RAF1NM_002880.3(RAF1): c.1837C> G (p.Leu613Val)single nucleotide variantPathogenicrs80338797GRCh37Chr 3, 12626123: 12626123
8RAF1NM_002880.3(RAF1): c.1456G> A (p.Asp486Asn)single nucleotide variantPathogenicrs80338798GRCh37Chr 3, 12627260: 12627260
9RAF1NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile)single nucleotide variantPathogenicrs80338799GRCh37Chr 3, 12627244: 12627244
10BRAFNM_004333.4(BRAF): c.721A> C (p.Thr241Pro)single nucleotide variantPathogenicrs387906661GRCh37Chr 7, 140501351: 140501351
11BRAFNM_004333.4(BRAF): c.735A> T (p.Leu245Phe)single nucleotide variantLikely pathogenicrs397507466GRCh37Chr 7, 140501337: 140501337
12PTPN11NM_002834.3(PTPN11): c.1381G> T (p.Ala461Ser)single nucleotide variantPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
13PTPN11NM_002834.3(PTPN11): c.1492C> T (p.Arg498Trp)single nucleotide variantPathogenicrs397507541GRCh37Chr 12, 112926872: 112926872
14PTPN11NM_002834.3(PTPN11): c.1493G> T (p.Arg498Leu)single nucleotide variantPathogenicrs397507542GRCh37Chr 12, 112926873: 112926873
15PTPN11NM_002834.3(PTPN11): c.1517A> C (p.Gln506Pro)single nucleotide variantPathogenicrs397507548GRCh37Chr 12, 112926897: 112926897
16PTPN11NM_002834.3(PTPN11): c.1528C> G (p.Gln510Glu)single nucleotide variantPathogenicrs397507549GRCh37Chr 12, 112926908: 112926908
17PTPN11NM_002834.3(PTPN11): c.836A> C (p.Tyr279Ser)single nucleotide variantPathogenicrs121918456GRCh37Chr 12, 112910827: 112910827

Expression for genes affiliated with Leopard Syndrome 1

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Expression patterns in normal tissues for genes affiliated with Leopard Syndrome 1

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Pathways for genes affiliated with Leopard Syndrome 1

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

(show top 50)    (show all 69)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
mTOR signaling pathway37
9.1RAF1, BRAF
29.1RAF1, BRAF
3
Show member pathways
9.1BRAF, RAF1
49.1BRAF, RAF1
59.1RAF1, BRAF
6
Show member pathways
9.1BRAF, RAF1
7
Show member pathways
9.1BRAF, RAF1
8
Show member pathways
Ras signaling in the CD4+ TCR pathway37
9.1RAF1, BRAF
9
Show member pathways
9.1RAF1, BRAF
10
Show member pathways
9.1RAF1, BRAF
119.1RAF1, BRAF
129.1RAF1, BRAF
13
Show member pathways
9.1BRAF, RAF1
14
Show member pathways
Immune response IL 22 signaling pathway60
G protein signaling N RAS regulation pathway60
9.1RAF1, BRAF
15
Show member pathways
RAC1 signaling pathway37
9.1BRAF, RAF1
16
Show member pathways
9.1RAF1, BRAF
179.1RAF1, BRAF
18
Show member pathways
G protein signaling M RAS regulation pathway60
9.1BRAF, RAF1
199.1BRAF, RAF1
209.1BRAF, RAF1
219.1BRAF, RAF1
229.0RAF1, PTPN11
239.0PTPN11, RAF1
24
Show member pathways
Immune response IL 3 activation and signaling pathway60
9.0PTPN11, RAF1
25
Show member pathways
Development Flt3 signaling60
9.0RAF1, PTPN11
269.0PTPN11, RAF1
27
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
9.0PTPN11, RAF1
28
Show member pathways
IL-2 Signaling pathway37
9.0RAF1, PTPN11
299.0RAF1, PTPN11
30
Show member pathways
9.0PTPN11, RAF1
319.0PTPN11, RAF1
329.0RAF1, PTPN11
33
Show member pathways
9.0PTPN11, RAF1
349.0RAF1, PTPN11
35
Show member pathways
EPO Receptor Signaling37
EPO signaling pathway37
9.0RAF1, PTPN11
36
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
8.5RAF1, BRAF, PTPN11
378.5RAF1, BRAF, PTPN11
388.5RAF1, BRAF, PTPN11
398.5RAF1, BRAF, PTPN11
40
Show member pathways
Immune response CD16 signaling in NK cells60
8.5RAF1, BRAF, PTPN11
41
Show member pathways
8.5RAF1, BRAF, PTPN11
428.5RAF1, BRAF, PTPN11
43
Show member pathways
8.5RAF1, BRAF, PTPN11
44
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
8.5RAF1, BRAF, PTPN11
45
Show member pathways
8.5PTPN11, BRAF, RAF1
46
Show member pathways
8.5PTPN11, BRAF, RAF1
47
Show member pathways
8.5PTPN11, BRAF, RAF1
48
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
8.5PTPN11, BRAF, RAF1
49
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells37
8.5PTPN11, BRAF, RAF1
50
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
8.5PTPN11, BRAF, RAF1

Compounds for genes affiliated with Leopard Syndrome 1

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

(show top 50)    (show all 873)
idCompoundScoreTop Affiliating Genes
1sb 590885619.6BRAF, RAF1
2gw 5074619.6BRAF, RAF1
3l-779,450619.6RAF1, BRAF
4gdc 0879619.6BRAF, RAF1
5gw-5074449.6BRAF, RAF1
6zm 33637261 4410.6BRAF, RAF1
7dabrafenib50 1110.6BRAF, RAF1
8regorafenib50 1110.5BRAF, RAF1
917-(allylamino)-17-demethoxygeldanamycin449.5BRAF, RAF1
10depsipeptide449.5RAF1, BRAF
11sorafenib44 50 1111.5BRAF, RAF1
12geldanamycin44 50 61 1112.5RAF1, BRAF
13DG(18:3(6Z,9Z,12Z)/22:1(13Z)/0:0)249.5RAF1, BRAF
14DG(18:3(6Z,9Z,12Z)/18:0/0:0)249.5BRAF, RAF1
15DG(18:2(9Z,12Z)/20:4(8Z,11Z,14Z,17Z)/0:0)249.5BRAF, RAF1
16DG(18:1(9Z)/24:0/0:0)249.5BRAF, RAF1
17DG(18:1(9Z)/18:1(11Z)/0:0)249.4BRAF, RAF1
18DG(18:3(9Z,12Z,15Z)/18:2(9Z,12Z)/0:0)249.4RAF1, BRAF
19sodium orthovanadate44 6110.4RAF1, PTPN11
20DG(20:0/20:3(8Z,11Z,14Z)/0:0)249.4BRAF, RAF1
21DG(18:4(6Z,9Z,12Z,15Z)/24:0/0:0)249.4BRAF, RAF1
22DG(18:4(6Z,9Z,12Z,15Z)/18:4(6Z,9Z,12Z,15Z)/0:0)249.4BRAF, RAF1
23ag 1478449.4RAF1, PTPN11
24DG(18:3(9Z,12Z,15Z)/22:5(4Z,7Z,10Z,13Z,16Z)/0:0)249.4BRAF, RAF1
25DG(18:1(11Z)/20:4(8Z,11Z,14Z,17Z)/0:0)249.4BRAF, RAF1
26DG(15:0/20:4(5Z,8Z,11Z,14Z)/0:0)249.4RAF1, BRAF
27DG(15:0/14:1(9Z)/0:0)249.3BRAF, RAF1
28DG(14:1(9Z)/20:2(11Z,14Z)/0:0)249.3BRAF, RAF1
29DG(14:0/24:0/0:0)249.3BRAF, RAF1
30DG(14:0/18:4(6Z,9Z,12Z,15Z)/0:0)249.2BRAF, RAF1
31DG(16:0/18:3(9Z,12Z,15Z)/0:0)249.2RAF1, BRAF
32DG(18:1(11Z)/15:0/0:0)249.1BRAF, RAF1
33DG(16:0e/18:0/0:0)249.1BRAF, RAF1
34DG(18:0/20:3(5Z,8Z,11Z)/0:0)249.0BRAF, RAF1
35imatinib44 50 1110.9PTPN11, BRAF, RAF1
36agar448.9PTPN11, BRAF, RAF1
37sb 20358044 619.9RAF1, PTPN11, BRAF
38rapamycin448.9PTPN11, BRAF, RAF1
39ly294002448.9PTPN11, BRAF, RAF1
40wortmannin448.9PTPN11, BRAF, RAF1
41phosphoinositide448.9RAF1, BRAF, PTPN11
42forskolin44 50 1110.9PTPN11, BRAF, RAF1
43cisplatin44 50 61 1111.9PTPN11, RAF1, BRAF
44oligonucleotide448.9RAF1, PTPN11, BRAF
45vegf448.9RAF1, PTPN11, BRAF
46phosphatidylinositol448.9PTPN11, RAF1, BRAF
47threonine448.9RAF1, BRAF, PTPN11
48alanine448.9PTPN11, BRAF, RAF1
49adp44 28 2410.9BRAF, RAF1, PTPN11
50DG(16:1(9Z)/22:2(13Z,16Z)/0:0)248.8BRAF, RAF1

GO Terms for genes affiliated with Leopard Syndrome 1

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of peptidyl-serine phosphorylationGO:0331389.1BRAF, RAF1
2heart developmentGO:0075079.0RAF1, PTPN11
3activation of MAPKK activityGO:0001869.0RAF1, BRAF
4insulin receptor signaling pathwayGO:0082868.7RAF1, PTPN11
5fibroblast growth factor receptor signaling pathwayGO:0085438.6RAF1, BRAF, PTPN11
6neurotrophin TRK receptor signaling pathwayGO:0480118.6RAF1, BRAF, PTPN11

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

idNameGO IDScoreTop Affiliating Genes
1MAP kinase kinase kinase activityGO:0047099.1RAF1, BRAF
2small GTPase bindingGO:0312679.0RAF1, BRAF
3mitogen-activated protein kinase kinase bindingGO:0314348.8RAF1, BRAF

Products for genes affiliated with Leopard Syndrome 1

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet