NSML
MCID: NNN026
MIFTS: 49

Noonan Syndrome with Multiple Lentigines (NSML)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Noonan Syndrome with Multiple Lentigines

MalaCards integrated aliases for Noonan Syndrome with Multiple Lentigines:

Name: Noonan Syndrome with Multiple Lentigines 25 26 60 30 6
Leopard Syndrome 25 26 60 74
Multiple Lentigines Syndrome 25 26
Cardiomyopathic Lentiginosis 26 60
Cardio-Cutaneous Syndrome 26 6
Lentiginosis Profusa 26 74
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 74
Progressive Cardiomyopathic Lentiginosis 26
Familial Multiple Lentigines Syndrome 60
Diffuse Lentiginosis 26
Moynahan Syndrome 26
Nsml 26

Characteristics:

Orphanet epidemiological data:

60
noonan syndrome with multiple lentigines
Inheritance: Autosomal dominant; Age of onset: Childhood;

GeneReviews:

25
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:



Summaries for Noonan Syndrome with Multiple Lentigines

Genetics Home Reference : 26 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 lentigines, and has symptoms including seizures and hyposmia. 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 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways and Ras signaling pathway. Affiliated tissues include skin, heart and eye, and related phenotypes are hypertelorism and hypertrophic cardiomyopathy

Wikipedia : 77 Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway... more...

GeneReviews: NBK1383

Related Diseases for Noonan Syndrome with Multiple Lentigines

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 leopard syndrome 32.0 BRAF PTPN11 RAF1
2 lentigines 30.9 BRAF PTPN11 RAF1
3 noonan syndrome 1 30.3 BRAF PTPN11 RAF1 RPL6
4 hypertrophic cardiomyopathy 30.1 BRAF PTPN11 RAF1
5 leopard syndrome 2 12.5
6 leopard syndrome 3 12.5
7 lentiginosis, inherited patterned 11.9
8 legius syndrome 11.1
9 leopard syndrome 1 10.7
10 pseudo-turner syndrome 10.7
11 orthostatic intolerance 10.3
12 myoblastoma 10.3
13 neuropathy 10.3
14 craniosynostosis 10.1
15 keratosis 10.1
16 granular cell tumor 10.1
17 melanoma 10.0
18 pilomyxoid astrocytoma 10.0 BRAF RAF1
19 metachondromatosis 10.0 PTPN11 RPL6
20 cardiofaciocutaneous syndrome 1 10.0 BRAF PTPN11
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
22 leukemia 9.9
23 heart disease 9.9
24 leukemia, chronic lymphocytic 2 9.9 BRAF PTPN11
25 neurofibromatosis, type i 9.9
26 neurofibromatosis, type iv, of riccardi 9.9
27 teeth, supernumerary 9.9
28 renal hypodysplasia/aplasia 1 9.9
29 renal hypodysplasia/aplasia 3 9.9
30 dermatitis 9.9
31 rhabdomyosarcoma 9.9
32 aorto-right ventricular tunnel 9.9
33 pulmonic stenosis 9.9 BRAF PTPN11 RAF1
34 hypertelorism 9.9 BRAF PTPN11 RAF1
35 juvenile myelomonocytic leukemia 9.8 BRAF PTPN11 RAF1
36 noonan syndrome 3 9.8 PTPN11 RAF1
37 cardiac conduction defect 9.8
38 marfan syndrome 9.8
39 steatocystoma multiplex 9.8
40 wolff-parkinson-white syndrome 9.8
41 alopecia-epilepsy-oligophrenia syndrome of moynahan 9.8
42 autism 9.8
43 schizencephaly 9.8
44 neurofibromatosis-noonan syndrome 9.8
45 patent ductus arteriosus 1 9.8
46 leukemia, acute lymphoblastic 9.8
47 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.8
48 pulmonary hypertension 9.8
49 infective endocarditis 9.8
50 autism spectrum disorder 9.8

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



Diseases related to Noonan Syndrome with Multiple Lentigines

Symptoms & Phenotypes for Noonan Syndrome with Multiple Lentigines

Human phenotypes related to Noonan Syndrome with Multiple Lentigines:

60 33 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 hypertrophic cardiomyopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001639
3 arrhythmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0011675
4 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
5 melanocytic nevus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000995
6 bundle branch block 60 33 hallmark (90%) Very frequent (99-80%) HP:0011710
7 pulmonic stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001642
8 abnormality of the pulmonary artery 60 33 hallmark (90%) Very frequent (99-80%) HP:0004414
9 hyperextensible skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000974
10 multiple lentigines 60 33 hallmark (90%) Very frequent (99-80%) HP:0001003
11 severe sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0008625
12 freckling 60 33 hallmark (90%) Very frequent (99-80%) HP:0001480
13 abnormal pulmonary valve morphology 33 hallmark (90%) HP:0001641
14 pectus excavatum 60 33 frequent (33%) Frequent (79-30%) HP:0000767
15 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
16 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
17 pectus carinatum 60 33 frequent (33%) Frequent (79-30%) HP:0000768
18 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
19 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
20 webbed neck 60 33 frequent (33%) Frequent (79-30%) HP:0000465
21 sprengel anomaly 60 33 frequent (33%) Frequent (79-30%) HP:0000912
22 scapular winging 60 33 frequent (33%) Frequent (79-30%) HP:0003691
23 mitral valve prolapse 60 33 frequent (33%) Frequent (79-30%) HP:0001634
24 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
25 decreased fertility 60 33 frequent (33%) Frequent (79-30%) HP:0000144
26 atrioventricular canal defect 60 33 frequent (33%) Frequent (79-30%) HP:0006695
27 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
28 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
29 intellectual disability, mild 60 33 occasional (7.5%) Occasional (29-5%) HP:0001256
30 subcutaneous nodule 60 33 occasional (7.5%) Occasional (29-5%) HP:0001482
31 brachycephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000248
32 myocardial infarction 60 33 occasional (7.5%) Occasional (29-5%) HP:0001658
33 myelodysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002863
34 aplasia/hypoplasia of the abdominal wall musculature 60 33 occasional (7.5%) Occasional (29-5%) HP:0010318
35 melanoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002861
36 hypospadias 60 33 occasional (7.5%) Occasional (29-5%) HP:0000047
37 abnormality of the voice 60 33 occasional (7.5%) Occasional (29-5%) HP:0001608
38 spina bifida occulta 60 33 occasional (7.5%) Occasional (29-5%) HP:0003298
39 triangular face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000325
40 abnormal localization of kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0100542
41 neuroblastoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0003006
42 excessive wrinkled skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0007392
43 dilatation 33 occasional (7.5%) HP:0002617
44 abnormal endocardium morphology 33 occasional (7.5%) HP:0004306
45 sensorineural hearing impairment 60 Very frequent (99-80%)
46 malformation of the heart and great vessels 60 Frequent (79-30%)
47 growth delay 60 Very frequent (99-80%)
48 abnormality of the endocardium 60 Occasional (29-5%)
49 abnormality of the face 60 Frequent (79-30%)
50 abnormality of the pulmonary valve 60 Very frequent (99-80%)

UMLS symptoms related to Noonan Syndrome with Multiple Lentigines:


seizures, hyposmia

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

27 (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

MGI Mouse Phenotypes related to Noonan Syndrome with Multiple Lentigines:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.02 BRAF MKRN2 PPP1R13L PTPN11 RAF1

Drugs & Therapeutics for Noonan Syndrome with Multiple Lentigines

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

Genetic Tests for Noonan Syndrome with Multiple Lentigines

Genetic tests related to Noonan Syndrome with Multiple Lentigines:

# Genetic test Affiliating Genes
1 Noonan Syndrome with Multiple Lentigines 30

Anatomical Context for Noonan Syndrome with Multiple Lentigines

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

42
Skin, Heart, Eye, Kidney

Publications for Noonan Syndrome with Multiple Lentigines

Articles related to Noonan Syndrome with Multiple Lentigines:

(show all 17)
# Title Authors Year
1
Noonan syndrome with multiple lentigines and associated craniosynostosis. ( 29356064 )
2018
2
Widespread keratosis pilaris in a patient with Noonan syndrome with multiple lentigines. ( 30152106 )
2018
3
Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene. ( 30640061 )
2018
4
In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy. ( 28582432 )
2017
5
Heterozygous deletion of AKT1 rescues cardiac contractility, but not hypertrophy, in a mouse model of Noonan Syndrome with Multiple Lentigines. ( 28911943 )
2017
6
Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor. ( 28681392 )
2017
7
Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. ( 28483241 )
2017
8
Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines. ( 27238887 )
2016
9
Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines. ( 27348588 )
2016
10
Hypertrophic neuropathy in Noonan syndrome with multiple lentigines. ( 26952712 )
2016
11
Elevated calcium transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan Syndrome with Multiple Lentigines. ( 25724491 )
2015
12
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. ( 26337637 )
2015
13
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog. ( 25708222 )
2015
14
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. ( 25423878 )
2015
15
The case of 17-year-old male with LEOPARD syndrome. ( 30533116 )
2013
16
A Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome. ( 24790373 )
2008
17
Gerstmann tetrad in leopard syndrome. ( 2604805 )
1989

Variations for Noonan Syndrome with Multiple Lentigines

ClinVar genetic disease variations for Noonan Syndrome with Multiple Lentigines:

6 (show top 50) (show all 256)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAF1 NM_002880.3(RAF1): c.321-14T> A single nucleotide variant Benign/Likely benign rs3730270 GRCh37 Chromosome 3, 12650848: 12650848
2 RAF1 NM_002880.3(RAF1): c.321-14T> A single nucleotide variant Benign/Likely benign rs3730270 GRCh38 Chromosome 3, 12609349: 12609349
3 RAF1 NM_002880.3(RAF1): c.-416C> G single nucleotide variant Benign/Likely benign rs61730434 GRCh37 Chromosome 3, 12705701: 12705701
4 RAF1 NM_002880.3(RAF1): c.-416C> G single nucleotide variant Benign/Likely benign rs61730434 GRCh38 Chromosome 3, 12664202: 12664202
5 RAF1 NM_002880.3(RAF1): c.1721A> G (p.Tyr574Cys) single nucleotide variant Uncertain significance rs370242565 GRCh37 Chromosome 3, 12626428: 12626428
6 RAF1 NM_002880.3(RAF1): c.1721A> G (p.Tyr574Cys) single nucleotide variant Uncertain significance rs370242565 GRCh38 Chromosome 3, 12584929: 12584929
7 BRAF NM_004333.4(BRAF): c.*7T> C single nucleotide variant Conflicting interpretations of pathogenicity rs727502903 GRCh37 Chromosome 7, 140434390: 140434390
8 BRAF NM_004333.4(BRAF): c.*7T> C single nucleotide variant Conflicting interpretations of pathogenicity rs727502903 GRCh38 Chromosome 7, 140734590: 140734590
9 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh37 Chromosome 12, 112926270: 112926270
10 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh38 Chromosome 12, 112488466: 112488466
11 PTPN11 NM_002834.4(PTPN11): c.1381G> A (p.Ala461Thr) single nucleotide variant Pathogenic rs121918468 GRCh37 Chromosome 12, 112926248: 112926248
12 PTPN11 NM_002834.4(PTPN11): c.1381G> A (p.Ala461Thr) single nucleotide variant Pathogenic rs121918468 GRCh38 Chromosome 12, 112488444: 112488444
13 PTPN11 NM_002834.4(PTPN11): c.1529A> C (p.Gln510Pro) single nucleotide variant Pathogenic rs121918470 GRCh37 Chromosome 12, 112926909: 112926909
14 PTPN11 NM_002834.4(PTPN11): c.1529A> C (p.Gln510Pro) single nucleotide variant Pathogenic rs121918470 GRCh38 Chromosome 12, 112489105: 112489105
15 RAF1 NM_002880.3(RAF1): c.770C> T (p.Ser257Leu) single nucleotide variant Pathogenic rs80338796 GRCh37 Chromosome 3, 12645699: 12645699
16 RAF1 NM_002880.3(RAF1): c.770C> T (p.Ser257Leu) single nucleotide variant Pathogenic rs80338796 GRCh38 Chromosome 3, 12604200: 12604200
17 RAF1 NM_002880.3(RAF1): c.1837C> G (p.Leu613Val) single nucleotide variant Pathogenic rs80338797 GRCh37 Chromosome 3, 12626123: 12626123
18 RAF1 NM_002880.3(RAF1): c.1837C> G (p.Leu613Val) single nucleotide variant Pathogenic rs80338797 GRCh38 Chromosome 3, 12584624: 12584624
19 RAF1 NM_002880.3(RAF1): c.1456G> A (p.Asp486Asn) single nucleotide variant Pathogenic rs80338798 GRCh37 Chromosome 3, 12627260: 12627260
20 RAF1 NM_002880.3(RAF1): c.1456G> A (p.Asp486Asn) single nucleotide variant Pathogenic rs80338798 GRCh38 Chromosome 3, 12585761: 12585761
21 RAF1 NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile) single nucleotide variant Pathogenic rs80338799 GRCh37 Chromosome 3, 12627244: 12627244
22 RAF1 NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile) single nucleotide variant Pathogenic rs80338799 GRCh38 Chromosome 3, 12585745: 12585745
23 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh37 Chromosome 7, 140501351: 140501351
24 BRAF NM_004333.4(BRAF): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387906661 GRCh38 Chromosome 7, 140801551: 140801551
25 PTPN11 NM_002834.4(PTPN11): c.255C> T (p.His85=) single nucleotide variant Benign rs61736914 GRCh37 Chromosome 12, 112888239: 112888239
26 PTPN11 NM_002834.4(PTPN11): c.255C> T (p.His85=) single nucleotide variant Benign rs61736914 GRCh38 Chromosome 12, 112450435: 112450435
27 BRAF NM_004333.5(BRAF): c.36G> A (p.Ala12=) single nucleotide variant Benign rs397507454 GRCh37 Chromosome 7, 140624468: 140624468
28 BRAF NM_004333.5(BRAF): c.36G> A (p.Ala12=) single nucleotide variant Benign rs397507454 GRCh38 Chromosome 7, 140924668: 140924668
29 BRAF NM_004333.5(BRAF): c.78G> T (p.Glu26Asp) single nucleotide variant Benign/Likely benign rs371877084 GRCh37 Chromosome 7, 140624426: 140624426
30 BRAF NM_004333.5(BRAF): c.78G> T (p.Glu26Asp) single nucleotide variant Benign/Likely benign rs371877084 GRCh38 Chromosome 7, 140924626: 140924626
31 BRAF NM_004333.4(BRAF): c.735A> T (p.Leu245Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs397507466 GRCh37 Chromosome 7, 140501337: 140501337
32 BRAF NM_004333.4(BRAF): c.735A> T (p.Leu245Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs397507466 GRCh38 Chromosome 7, 140801537: 140801537
33 BRAF NM_004333.5(BRAF): c.1227A> G (p.Ser409=) single nucleotide variant Benign rs145035762 GRCh37 Chromosome 7, 140482908: 140482908
34 BRAF NM_004333.5(BRAF): c.1227A> G (p.Ser409=) single nucleotide variant Benign rs145035762 GRCh38 Chromosome 7, 140783108: 140783108
35 BRAF NM_004333.5(BRAF): c.1332G> A (p.Arg444=) single nucleotide variant Benign rs56101602 GRCh37 Chromosome 7, 140481476: 140481476
36 BRAF NM_004333.5(BRAF): c.1332G> A (p.Arg444=) single nucleotide variant Benign rs56101602 GRCh38 Chromosome 7, 140781676: 140781676
37 BRAF NM_004333.5(BRAF): c.1383A> G (p.Gln461=) single nucleotide variant Benign rs56216404 GRCh37 Chromosome 7, 140481425: 140481425
38 BRAF NM_004333.5(BRAF): c.1383A> G (p.Gln461=) single nucleotide variant Benign rs56216404 GRCh38 Chromosome 7, 140781625: 140781625
39 BRAF NM_004333.5(BRAF): c.1929A> G (p.Gly643=) single nucleotide variant Benign rs9648696 GRCh37 Chromosome 7, 140449150: 140449150
40 BRAF NM_004333.5(BRAF): c.1929A> G (p.Gly643=) single nucleotide variant Benign rs9648696 GRCh38 Chromosome 7, 140749350: 140749350
41 BRAF NM_004333.5(BRAF): c.2235A> G (p.Leu745=) single nucleotide variant Benign rs56046546 GRCh37 Chromosome 7, 140434463: 140434463
42 BRAF NM_004333.5(BRAF): c.2235A> G (p.Leu745=) single nucleotide variant Benign rs56046546 GRCh38 Chromosome 7, 140734663: 140734663
43 PTPN11 NM_002834.4(PTPN11): c.1093-9C> A single nucleotide variant Benign/Likely benign rs12301915 GRCh37 Chromosome 12, 112919869: 112919869
44 PTPN11 NM_002834.4(PTPN11): c.1093-9C> A single nucleotide variant Benign/Likely benign rs12301915 GRCh38 Chromosome 12, 112482065: 112482065
45 PTPN11 NM_002834.4(PTPN11): c.1381G> T (p.Ala461Ser) single nucleotide variant Pathogenic rs121918468 GRCh37 Chromosome 12, 112926248: 112926248
46 PTPN11 NM_002834.4(PTPN11): c.1381G> T (p.Ala461Ser) single nucleotide variant Pathogenic rs121918468 GRCh38 Chromosome 12, 112488444: 112488444
47 PTPN11 NM_002834.4(PTPN11): c.1517A> C (p.Gln506Pro) single nucleotide variant Pathogenic rs397507548 GRCh37 Chromosome 12, 112926897: 112926897
48 PTPN11 NM_002834.4(PTPN11): c.1517A> C (p.Gln506Pro) single nucleotide variant Pathogenic rs397507548 GRCh38 Chromosome 12, 112489093: 112489093
49 RAF1 NM_002880.3(RAF1): c.-337_-336delAG deletion Conflicting interpretations of pathogenicity rs527774250 GRCh37 Chromosome 3, 12705621: 12705622
50 RAF1 NM_002880.3(RAF1): c.-337_-336delAG deletion Conflicting interpretations of pathogenicity rs527774250 GRCh38 Chromosome 3, 12664122: 12664123

Expression for Noonan Syndrome with Multiple Lentigines

Search GEO for disease gene expression data for Noonan Syndrome with Multiple Lentigines.

Pathways for Noonan Syndrome with Multiple Lentigines

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

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 BRAF PTPN11 RAF1
2
Show member pathways
12.45 BRAF PTPN11 RAF1
3
Show member pathways
12.43 BRAF PTPN11 RAF1
4
Show member pathways
12.24 BRAF PTPN11 RAF1
5
Show member pathways
12.18 BRAF PTPN11 RAF1
6
Show member pathways
12.02 BRAF PTPN11 RAF1
7
Show member pathways
11.95 BRAF PTPN11 RAF1
8
Show member pathways
11.69 BRAF PTPN11 RAF1
9 11.64 BRAF PTPN11 RAF1
10
Show member pathways
11.56 BRAF RAF1
11 11.5 BRAF RAF1
12 11.45 BRAF RAF1
13
Show member pathways
11.42 BRAF RAF1
14
Show member pathways
11.38 BRAF RAF1
15 11.38 BRAF RAF1
16 11.36 BRAF RAF1
17 11.35 BRAF PTPN11 RAF1
18 11.31 BRAF RAF1
19 11.27 BRAF RAF1
20 11.26 BRAF RAF1
21 11.2 PTPN11 RAF1
22 11.19 PTPN11 RAF1
23 11.17 BRAF RAF1
24 11.01 PTPN11 RAF1
25
Show member pathways
10.97 BRAF RAF1
26
Show member pathways
10.91 PTPN11 RAF1
27 10.85 BRAF PTPN11 RAF1
28 10.82 PTPN11 RAF1
29 10.75 BRAF RAF1

GO Terms for Noonan Syndrome with Multiple Lentigines

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

# Name GO ID Score Top Affiliating Genes
1 somatic stem cell population maintenance GO:0035019 9.37 BRAF RAF1
2 activation of MAPKK activity GO:0000186 9.32 BRAF RAF1
3 thymus development GO:0048538 9.26 BRAF RAF1
4 thyroid gland development GO:0030878 9.16 BRAF RAF1
5 neurotrophin TRK receptor signaling pathway GO:0048011 8.96 PTPN11 RAF1
6 face development GO:0060324 8.62 BRAF RAF1

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

# Name GO ID Score Top Affiliating Genes
1 MAP kinase kinase kinase activity GO:0004709 9.16 BRAF RAF1
2 small GTPase binding GO:0031267 8.96 BRAF RAF1
3 mitogen-activated protein kinase kinase binding GO:0031434 8.62 BRAF RAF1

Sources for Noonan Syndrome with Multiple Lentigines

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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