Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: NNN026
MIFTS: 46

Noonan Syndrome with Multiple Lentigines

Categories: Eye diseases, Cardiovascular diseases, Ear diseases, Skin diseases, Fetal diseases, Rare diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Noonan Syndrome with Multiple Lentigines

About this section

MalaCards integrated aliases for Noonan Syndrome with Multiple Lentigines:

Name: Noonan Syndrome with Multiple Lentigines 24 25 59 29 6
Leopard Syndrome 24 25 59 73
Multiple Lentigines Syndrome 24 25
Cardiomyopathic Lentiginosis 25 59
Cardio-Cutaneous Syndrome 25 6
Lentiginosis Profusa 25 73
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 73
Progressive Cardiomyopathic Lentiginosis 25
Familial Multiple Lentigines Syndrome 59
Diffuse Lentiginosis 25
Moynahan Syndrome 25
Nsml 25

Characteristics:

Orphanet epidemiological data:

59
noonan syndrome with multiple lentigines
Inheritance: Autosomal dominant; Age of onset: Childhood;

GeneReviews:

24
Penetrance Penetrance of nsml is difficult to determine because of ascertainment bias and variable expressivity, frequently with subtlety of phenotypic features. affected adults may be diagnosed only after the birth of a more obviously affected infant...

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Eye diseases Cardiovascular diseases Ear diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare eye diseases
Rare cardiac malformations
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Noonan Syndrome with Multiple Lentigines

About this section
Genetics Home Reference : 25 Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. As the condition name suggests, Noonan syndrome with multiple lentigines is very similar to a condition called Noonan syndrome, and it can be difficult to tell the two disorders apart in early childhood. However, the features of these two conditions differ later in life. The characteristic features of Noonan syndrome with multiple lentigines include brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes (ocular hypertelorism), a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and short stature. These features vary, however, even among affected individuals in the same family. Not all individuals with Noonan syndrome with multiple lentigines have all the characteristic features of this condition.

MalaCards based summary : Noonan Syndrome with Multiple Lentigines, also known as leopard syndrome, is related to leopard syndrome and noonan syndrome 1, and has symptoms including hyposmia and seizures. An important gene associated with Noonan Syndrome with Multiple Lentigines is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11), and among its related pathways/superpathways are Ras signaling pathway and Development HGF signaling pathway. Affiliated tissues include skin, heart and eye, and related phenotypes are cryptorchidism and hypospadias

Wikipedia : 76 Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway... more...

GeneReviews: NBK1383
Sources

Related Diseases for Noonan Syndrome with Multiple Lentigines

About this section

Diseases related to Noonan Syndrome with Multiple Lentigines via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 leopard syndrome 31.4 BRAF PTPN11 RAF1
2 noonan syndrome 1 30.8 BRAF PTPN11 RAF1 RPL6
3 lentigines 30.4 BRAF PTPN11 RAF1
4 lentiginosis, inherited patterned 11.7
5 alopecia-epilepsy-oligophrenia syndrome of moynahan 11.4
6 leopard syndrome 1 10.5
7 pseudo-turner syndrome 10.5
8 hypertrophic cardiomyopathy 10.1
9 neuropathy 10.1
10 craniosynostosis 10.0
11 granular cell tumor 10.0
12 neurofibroma 10.0
13 dengue disease 9.9 PTPN11 RAF1
14 metachondromatosis 9.8 PTPN11 RPL6
15 pulmonic stenosis 9.7 BRAF PTPN11 RAF1
16 hypertelorism 9.6 BRAF PTPN11 RAF1
17 pilocytic astrocytoma 9.6 BRAF PTPN11 RAF1
18 cardiofaciocutaneous syndrome 1 9.6 BRAF PTPN11
19 juvenile myelomonocytic leukemia 9.5 BRAF PTPN11 RAF1

Graphical network of the top 20 diseases related to Noonan Syndrome with Multiple Lentigines:



Diseases related to Noonan Syndrome with Multiple Lentigines
Sources

Symptoms & Phenotypes for Noonan Syndrome with Multiple Lentigines

About this section

Human phenotypes related to Noonan Syndrome with Multiple Lentigines:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
2 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
3 decreased fertility 59 32 frequent (33%) Frequent (79-30%) HP:0000144
4 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
5 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
6 triangular face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000325
7 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
8 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
9 webbed neck 59 32 frequent (33%) Frequent (79-30%) HP:0000465
10 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
11 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
12 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
13 sprengel anomaly 59 32 frequent (33%) Frequent (79-30%) HP:0000912
14 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
15 melanocytic nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000995
16 multiple lentigines 59 32 hallmark (90%) Very frequent (99-80%) HP:0001003
17 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
18 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
19 freckling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001480
20 subcutaneous nodule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001482
21 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
22 abnormality of the voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001608
23 mitral valve prolapse 59 32 frequent (33%) Frequent (79-30%) HP:0001634
24 hypertrophic cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001639
25 pulmonic stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001642
26 myocardial infarction 59 32 occasional (7.5%) Occasional (29-5%) HP:0001658
27 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
28 melanoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002861
29 myelodysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002863
30 neuroblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0003006
31 spina bifida occulta 59 32 occasional (7.5%) Occasional (29-5%) HP:0003298
32 scapular winging 59 32 frequent (33%) Frequent (79-30%) HP:0003691
33 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
34 abnormality of the pulmonary artery 59 32 hallmark (90%) Very frequent (99-80%) HP:0004414
35 atrioventricular canal defect 59 32 frequent (33%) Frequent (79-30%) HP:0006695
36 excessive wrinkled skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0007392
37 severe sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0008625
38 aplasia/hypoplasia of the abdominal wall musculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0010318
39 arrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011675
40 bundle branch block 59 32 hallmark (90%) Very frequent (99-80%) HP:0011710
41 abnormal localization of kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0100542
42 abnormality of the genital system 59 Very frequent (99-80%)
43 abnormality of the face 59 Frequent (79-30%)
44 sensorineural hearing impairment 59 Very frequent (99-80%)
45 growth delay 59 Very frequent (99-80%)
46 abnormality of the mitral valve 59 Frequent (79-30%)
47 abnormality of the pulmonary valve 59 Very frequent (99-80%)
48 malformation of the heart and great vessels 59 Frequent (79-30%)
49 aneurysm 59 Occasional (29-5%)
50 abnormality of the endocardium 59 Occasional (29-5%)

UMLS symptoms related to Noonan Syndrome with Multiple Lentigines:


hyposmia, seizures

GenomeRNAi Phenotypes related to Noonan Syndrome with Multiple Lentigines according to GeneCards Suite gene sharing:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.7 BRAF
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.7 RAF1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.7 PTPN11
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.7 PTPN11
5 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.7 PTPN11
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.7 BRAF PTPN11 RAF1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.7 RAF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.7 RAF1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.7 BRAF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.7 BRAF
11 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.7 PTPN11
12 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.7 PTPN11
13 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.7 BRAF
14 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.7 BRAF
15 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.7 BRAF
16 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.7 BRAF
17 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.7 PTPN11
18 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.7 BRAF PTPN11
19 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.7 RAF1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.7 PTPN11
21 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.7 PTPN11
Sources

Drugs & Therapeutics for Noonan Syndrome with Multiple Lentigines

About this section

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes Unknown status NCT02486731

Search NIH Clinical Center for Noonan Syndrome with Multiple Lentigines

Sources

Genetic Tests for Noonan Syndrome with Multiple Lentigines

About this section

Genetic tests related to Noonan Syndrome with Multiple Lentigines:

# Genetic test Affiliating Genes
1 Noonan Syndrome with Multiple Lentigines 29
Sources

Anatomical Context for Noonan Syndrome with Multiple Lentigines

About this section

MalaCards organs/tissues related to Noonan Syndrome with Multiple Lentigines:

41
Skin, Heart, Eye, Kidney
Sources

Publications for Noonan Syndrome with Multiple Lentigines

About this section

Articles related to Noonan Syndrome with Multiple Lentigines:

(show all 12)
# Title Authors Year
1
Noonan syndrome with multiple lentigines and associated craniosynostosis. ( 29356064 )
2018
2
In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy. ( 28582432 )
2017
3
Heterozygous deletion of AKT1 rescues cardiac contractility, but not hypertrophy, in a mouse model of Noonan Syndrome with Multiple Lentigines. ( 28911943 )
2017
4
Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor. ( 28681392 )
2017
5
Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. ( 28483241 )
2017
6
Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines. ( 27238887 )
2016
7
Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines. ( 27348588 )
2016
8
Hypertrophic neuropathy in Noonan syndrome with multiple lentigines. ( 26952712 )
2016
9
Elevated calcium transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan Syndrome with Multiple Lentigines. ( 25724491 )
2015
10
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. ( 26337637 )
2015
11
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog. ( 25708222 )
2015
12
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. ( 25423878 )
2015
Sources

Variations for Noonan Syndrome with Multiple Lentigines

About this section

ClinVar genetic disease variations for Noonan Syndrome with Multiple Lentigines:

6
(show top 50) (show all 180)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh37 Chromosome 12, 112926270: 112926270
2 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh38 Chromosome 12, 112488466: 112488466
3 PTPN11 NM_002834.4(PTPN11): c.1381G> A (p.Ala461Thr) single nucleotide variant Pathogenic rs121918468 GRCh37 Chromosome 12, 112926248: 112926248
4 PTPN11 NM_002834.4(PTPN11): c.1381G> A (p.Ala461Thr) single nucleotide variant Pathogenic rs121918468 GRCh38 Chromosome 12, 112488444: 112488444
5 PTPN11 NM_002834.4(PTPN11): c.1529A> C (p.Gln510Pro) single nucleotide variant Pathogenic rs121918470 GRCh37 Chromosome 12, 112926909: 112926909
6 PTPN11 NM_002834.4(PTPN11): c.1529A> C (p.Gln510Pro) single nucleotide variant Pathogenic rs121918470 GRCh38 Chromosome 12, 112489105: 112489105
7 RAF1 NM_002880.3(RAF1): c.770C> T (p.Ser257Leu) single nucleotide variant Pathogenic rs80338796 GRCh37 Chromosome 3, 12645699: 12645699
8 RAF1 NM_002880.3(RAF1): c.770C> T (p.Ser257Leu) single nucleotide variant Pathogenic rs80338796 GRCh38 Chromosome 3, 12604200: 12604200
9 RAF1 NM_002880.3(RAF1): c.1837C> G (p.Leu613Val) single nucleotide variant Pathogenic rs80338797 GRCh37 Chromosome 3, 12626123: 12626123
10 RAF1 NM_002880.3(RAF1): c.1837C> G (p.Leu613Val) single nucleotide variant Pathogenic rs80338797 GRCh38 Chromosome 3, 12584624: 12584624
11 RAF1 NM_002880.3(RAF1): c.1456G> A (p.Asp486Asn) single nucleotide variant Pathogenic rs80338798 GRCh37 Chromosome 3, 12627260: 12627260
12 RAF1 NM_002880.3(RAF1): c.1456G> A (p.Asp486Asn) single nucleotide variant Pathogenic rs80338798 GRCh38 Chromosome 3, 12585761: 12585761
13 RAF1 NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile) single nucleotide variant Pathogenic rs80338799 GRCh37 Chromosome 3, 12627244: 12627244
14 RAF1 NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile) single nucleotide variant Pathogenic rs80338799 GRCh38 Chromosome 3, 12585745: 12585745
15 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh37 Chromosome 7, 140501351: 140501351
16 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh38 Chromosome 7, 140801551: 140801551
17 BRAF NM_004333.4(BRAF): c.735A> T (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh37 Chromosome 7, 140501337: 140501337
18 BRAF NM_004333.4(BRAF): c.735A> T (p.Leu245Phe) single nucleotide variant Pathogenic/Likely pathogenic rs397507466 GRCh38 Chromosome 7, 140801537: 140801537
19 PTPN11 NM_002834.4(PTPN11): c.1381G> T (p.Ala461Ser) single nucleotide variant Pathogenic rs121918468 GRCh37 Chromosome 12, 112926248: 112926248
20 PTPN11 NM_002834.4(PTPN11): c.1381G> T (p.Ala461Ser) single nucleotide variant Pathogenic rs121918468 GRCh38 Chromosome 12, 112488444: 112488444
21 PTPN11 NM_002834.4(PTPN11): c.1517A> C (p.Gln506Pro) single nucleotide variant Pathogenic rs397507548 GRCh37 Chromosome 12, 112926897: 112926897
22 PTPN11 NM_002834.4(PTPN11): c.1517A> C (p.Gln506Pro) single nucleotide variant Pathogenic rs397507548 GRCh38 Chromosome 12, 112489093: 112489093
23 RAF1 NM_002880.3(RAF1): c.321-14T> A single nucleotide variant Benign/Likely benign rs3730270 GRCh37 Chromosome 3, 12650848: 12650848
24 RAF1 NM_002880.3(RAF1): c.321-14T> A single nucleotide variant Benign/Likely benign rs3730270 GRCh38 Chromosome 3, 12609349: 12609349
25 RAF1 NM_002880.3(RAF1): c.-416C> G single nucleotide variant Benign/Likely benign rs61730434 GRCh37 Chromosome 3, 12705701: 12705701
26 RAF1 NM_002880.3(RAF1): c.-416C> G single nucleotide variant Benign/Likely benign rs61730434 GRCh38 Chromosome 3, 12664202: 12664202
27 RAF1 NM_002880.3(RAF1): c.1721A> G (p.Tyr574Cys) single nucleotide variant Uncertain significance rs370242565 GRCh37 Chromosome 3, 12626428: 12626428
28 RAF1 NM_002880.3(RAF1): c.1721A> G (p.Tyr574Cys) single nucleotide variant Uncertain significance rs370242565 GRCh38 Chromosome 3, 12584929: 12584929
29 BRAF NM_004333.4(BRAF): c.*7T> C single nucleotide variant Conflicting interpretations of pathogenicity rs727502903 GRCh37 Chromosome 7, 140434390: 140434390
30 BRAF NM_004333.4(BRAF): c.*7T> C single nucleotide variant Conflicting interpretations of pathogenicity rs727502903 GRCh38 Chromosome 7, 140734590: 140734590
31 RAF1 NM_002880.3(RAF1): c.*640T> C single nucleotide variant Uncertain significance rs759464247 GRCh38 Chromosome 3, 12583874: 12583874
32 RAF1 NM_002880.3(RAF1): c.*640T> C single nucleotide variant Uncertain significance rs759464247 GRCh37 Chromosome 3, 12625373: 12625373
33 RAF1 NM_002880.3(RAF1): c.*627C> T single nucleotide variant Uncertain significance rs879160471 GRCh38 Chromosome 3, 12583887: 12583887
34 RAF1 NM_002880.3(RAF1): c.*627C> T single nucleotide variant Uncertain significance rs879160471 GRCh37 Chromosome 3, 12625386: 12625386
35 RAF1 NM_002880.3(RAF1): c.-110G> A single nucleotide variant Uncertain significance rs886057917 GRCh38 Chromosome 3, 12663896: 12663896
36 RAF1 NM_002880.3(RAF1): c.-110G> A single nucleotide variant Uncertain significance rs886057917 GRCh37 Chromosome 3, 12705395: 12705395
37 RAF1 NM_002880.3(RAF1): c.-146C> G single nucleotide variant Uncertain significance rs886057919 GRCh38 Chromosome 3, 12663932: 12663932
38 RAF1 NM_002880.3(RAF1): c.-146C> G single nucleotide variant Uncertain significance rs886057919 GRCh37 Chromosome 3, 12705431: 12705431
39 RAF1 NM_002880.3(RAF1): c.*745_*748delAACA deletion Uncertain significance rs879941163 GRCh38 Chromosome 3, 12583766: 12583769
40 RAF1 NM_002880.3(RAF1): c.*745_*748delAACA deletion Uncertain significance rs879941163 GRCh37 Chromosome 3, 12625265: 12625268
41 RAF1 NM_002880.3(RAF1): c.*495C> T single nucleotide variant Uncertain significance rs12808 GRCh38 Chromosome 3, 12584019: 12584019
42 RAF1 NM_002880.3(RAF1): c.*495C> T single nucleotide variant Uncertain significance rs12808 GRCh37 Chromosome 3, 12625518: 12625518
43 RAF1 NM_002880.3(RAF1): c.*348T> C single nucleotide variant Likely benign rs5746247 GRCh38 Chromosome 3, 12584166: 12584166
44 RAF1 NM_002880.3(RAF1): c.*348T> C single nucleotide variant Likely benign rs5746247 GRCh37 Chromosome 3, 12625665: 12625665
45 RAF1 NM_002880.3(RAF1): c.*162T> C single nucleotide variant Uncertain significance rs886057913 GRCh38 Chromosome 3, 12584352: 12584352
46 RAF1 NM_002880.3(RAF1): c.*162T> C single nucleotide variant Uncertain significance rs886057913 GRCh37 Chromosome 3, 12625851: 12625851
47 RAF1 NM_002880.3(RAF1): c.*113T> G single nucleotide variant Uncertain significance rs886057914 GRCh38 Chromosome 3, 12584401: 12584401
48 RAF1 NM_002880.3(RAF1): c.*113T> G single nucleotide variant Uncertain significance rs886057914 GRCh37 Chromosome 3, 12625900: 12625900
49 RAF1 NM_002880.3(RAF1): c.125C> T (p.Ala42Val) single nucleotide variant Likely benign rs11549992 GRCh38 Chromosome 3, 12618597: 12618597
50 RAF1 NM_002880.3(RAF1): c.125C> T (p.Ala42Val) single nucleotide variant Likely benign rs11549992 GRCh37 Chromosome 3, 12660096: 12660096
Sources

Expression for Noonan Syndrome with Multiple Lentigines

About this section
Search GEO for disease gene expression data for Noonan Syndrome with Multiple Lentigines.
Sources

Pathways for Noonan Syndrome with Multiple Lentigines

About this section

Pathways related to Noonan Syndrome with Multiple Lentigines according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Ras signaling pathway 37
Show member pathways
 12.45 BRAF PTPN11 RAF1
2
Development HGF signaling pathway 22
Show member pathways
 12.42 BRAF PTPN11 RAF1
3
Immune response Role of DAP12 receptors in NK cells 22
Show member pathways
 12.18 BRAF PTPN11 RAF1
4
ErbB signaling pathway 1 37
Show member pathways
 12.13 BRAF PTPN11 RAF1
5
Development VEGF signaling via VEGFR2 - generic cascades 22
Show member pathways
 12.02 BRAF PTPN11 RAF1
6
B cell receptor signaling pathway (KEGG) 37
Show member pathways
 11.95 BRAF PTPN11 RAF1
7
MAPK Signaling: Mitogen Stimulation Pathway 65
Show member pathways
 11.82 BRAF RAF1
8
Proteoglycans in cancer 37
11.74 BRAF PTPN11 RAF1
9
EGF/EGFR Signaling Pathway 1
11.55 BRAF PTPN11 RAF1
10
Bladder cancer 37 1
11.49 BRAF RAF1
11
Human Thyroid Stimulating Hormone (TSH) signaling pathway 1
11.44 BRAF RAF1
12
Negative regulation of MAPK pathway 66
Show member pathways
 11.42 BRAF RAF1
13
G-protein signaling Ras family GTPases in kinase cascades (scheme) 22
Show member pathways
 11.39 BRAF PTPN11 RAF1
14
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.38 BRAF RAF1
15
mTOR signaling pathway (Pathway Interaction Database) 1
11.38 BRAF RAF1
16
Long-term depression 37
11.36 BRAF RAF1
17
Signaling events mediated by focal adhesion kinase 1
11.31 BRAF RAF1
18
G-protein signaling_Rap1A regulation pathway 22
11.27 BRAF RAF1
19
Immune response_Role of integrins in NK cells cytotoxicity 22
11.2 PTPN11 RAF1
20
Interleukin-11 Signaling Pathway 1
11.19 PTPN11 RAF1
21
Vemurafenib Pathway, Pharmacodynamics 61
11.16 BRAF RAF1
22
Immune response_IL-6 signaling pathway 22
11.01 PTPN11 RAF1
23
Trk receptor signaling mediated by the MAPK pathway 1
Show member pathways
 10.97 BRAF RAF1
24
Development_Leptin signaling via JAK/STAT and MAPK cascades 22
Show member pathways
 10.91 PTPN11 RAF1
25
MAP Kinase Signaling 4
10.85 BRAF PTPN11 RAF1
26
IGF1 pathway 1
10.82 PTPN11 RAF1
27
G-protein signaling_K-RAS regulation pathway 22
10.75 BRAF RAF1
Sources

GO Terms for Noonan Syndrome with Multiple Lentigines

About this section

Biological processes related to Noonan Syndrome with Multiple Lentigines according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.43 BRAF PTPN11 RAF1
2 somatic stem cell population maintenance GO:0035019 9.4 BRAF RAF1
3 activation of MAPKK activity GO:0000186 9.37 BRAF RAF1
4 thymus development GO:0048538 9.32 BRAF RAF1
5 thyroid gland development GO:0030878 9.16 BRAF RAF1
6 face development GO:0060324 8.96 BRAF RAF1
7 neurotrophin TRK receptor signaling pathway GO:0048011 8.62 PTPN11 RAF1

Molecular functions related to Noonan Syndrome with Multiple Lentigines according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitogen-activated protein kinase kinase binding GO:0031434 9.26 BRAF RAF1
2 small GTPase binding GO:0031267 9.16 BRAF RAF1
3 obsolete signal transducer activity, downstream of receptor GO:0005057 8.96 BRAF RAF1
4 Ras GTPase binding GO:0017016 8.62 BRAF RAF1
Sources

Sources for Noonan Syndrome with Multiple Lentigines

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....