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NSML
MCID: NNN026
MIFTS: 64

Noonan Syndrome with Multiple Lentigines (NSML)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Noonan Syndrome with Multiple Lentigines

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MalaCards integrated aliases for Noonan Syndrome with Multiple Lentigines:

Name: Noonan Syndrome with Multiple Lentigines 12 25 20 43 58 29 6 15
Leopard Syndrome 12 25 20 43 58 36 54 44 70
Multiple Lentigines Syndrome 12 25 20 43
Cardiomyopathic Lentiginosis 20 43 58
Progressive Cardiomyopathic Lentiginosis 12 43
Cardio-Cutaneous Syndrome 43 6
Lentiginosis Profusa 43 70
Moynahan Syndrome 12 43
Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation of Growth, Deafnes 20
Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome 12
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 70
Progressive Cardiomyopathic Lentiginosis Syndrome 70
Familial Multiple Lentigines Syndrome 58
Lentiginosis Profusa Syndrome 12
Generalized Lentiginosis 12
Diffuse Lentiginosis 43
Gorlin Syndrome Ii 12
Nsml 43

Characteristics:

Orphanet epidemiological data:

58
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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Cardiovascular diseases Ear diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare cardiac malformations
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Noonan Syndrome with Multiple Lentigines

About this section
MedlinePlus Genetics : 43 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.The lentigines seen in Noonan syndrome with multiple lentigines typically first appear in mid-childhood, mostly on the face, neck, and upper body. Affected individuals may have thousands of small dark brown skin spots by the time they reach puberty. Unlike freckles, the appearance of lentigines has nothing to do with sun exposure. In addition to lentigines, people with this condition may have lighter brown skin spots called café-au-lait spots. Café-au-lait spots tend to develop before the lentigines, appearing within the first year of life in most affected people.Of the people with Noonan syndrome with multiple lentigines who have heart defects, about 80 percent have hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. The hypertrophic cardiomyopathy most often affects the lower left chamber of the heart (the left ventricle). Up to 20 percent of people with Noonan syndrome with multiple lentigines who have heart problems have a narrowing of the artery from the heart to the lungs (pulmonary stenosis).People with Noonan syndrome with multiple lentigines can have a distinctive facial appearance. In addition to ocular hypertelorism, affected individuals may have droopy eyelids (ptosis), thick lips, and low-set ears. Affected individuals also usually have an abnormal appearance of the chest; they either have pectus excavatum or pectus carinatum.At birth, people with Noonan syndrome with multiple lentigines are typically of normal weight and height, but in some, growth slows over time. This slow growth results in affected individuals being shorter than average, although less than half of people with Noonan syndrome with multiple lentigines have significantly short stature.Other signs and symptoms of Noonan syndrome with multiple lentigines include hearing loss caused by abnormalities in the inner ear (sensorineural deafness), mild intellectual disability, and extra folds of skin on the back of the neck. Affected males often have genital abnormalities, which can include undescended testes (cryptorchidism) and a urethra that opens on the underside of the penis (hypospadias). These abnormalities may reduce the ability to have biological children (decreased fertility). Females with Noonan syndrome with multiple lentigines may have poorly developed ovaries and delayed puberty.Noonan syndrome with multiple lentigines is one of a group of related conditions collectively known as RASopathies. These conditions all have similar signs and symptoms and are caused by changes in the same cell signaling pathway. In addition to Noonan syndrome with multiple lentigines, the RASopathies include Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, and Legius syndrome.

MalaCards based summary : Noonan Syndrome with Multiple Lentigines, also known as leopard syndrome, is related to leopard syndrome 1 and leopard syndrome 2, 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 MAPK signaling pathway and Ras signaling pathway. Affiliated tissues include heart, skin and testes, and related phenotypes are hypertelorism and intrauterine growth retardation

Disease Ontology : 12 A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.

GARD : 20 LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the features of the syndrome: (L)entigines - dark spots on the skin (E)lectrocardiographic conduction defects - abnormalities of the electrical activity of the heart (O)cular hypertelorism - widely spaced eyes (P)ulmonary stenosis - obstruction of the normal outflow of blood from the right ventricle of the heart (A)bnormalities of the genitalia (R)etarded (slowed) growth resulting in short stature (D)eafness There are 3 types of LEOPARD syndrome, which are distinguished by their genetic cause. Type 1 is caused by mutations in the PTPN11 gene ; type 2 is caused by mutations in the RAF1 gene ; and type 3 is caused by mutations in the BRAF gene. Other cases are caused by mutations in the MAP2K1 gene, and in some cases the cause is unknown. LEOPARD syndrome is inherited in an autosomal dominant manner. It can be inherited from an affected parent, or it can be due to a new mutation in a person with no family history of the condition. Leopard syndrome belongs to a group of related conditions called the RASopathies. These conditions have some overlapping features and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development.

KEGG : 36 LEOPARD syndrome is an autosomal dominant developmental disorder belonging to a relatively prevalent class of inherited RAS-MAPK signalling diseases. Its main features are lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness. Approximately 90% of LEOPARD syndrome cases are caused by missense mutations in the PTPN11 gene which encodes the protein tyrosine phosphatase SHP2. But it may also be caused by mutations in RAF1 or BRAF.

Wikipedia : 73 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

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

(show top 50) (show all 182)
# Related Disease Score Top Affiliating Genes
1 leopard syndrome 1 33.3 RAF1 PTPN11 BRAF
2 leopard syndrome 2 33.3 RAF1 PTPN11
3 noonan syndrome 1 32.2 SOS2 SOS1 SHOC2 RASA2 RAF1 PTPN11
4 legius syndrome 32.1 SPRED1 PTPN11 NF1 HRAS
5 lentigines 32.0 RAF1 PTPN11 BRAF
6 pseudo-turner syndrome 31.5 SOS2 SOS1 SHOC2 RAF1 PTPN11 MAP2K2
7 hypertrophic cardiomyopathy 31.2 SOS2 SOS1 SHOC2 RAF1 PTPN11 MIR499A
8 neurofibroma 30.9 RASA2 PTPN11 NF1
9 neurofibromatosis 30.9 SPRED1 SOS1 RASA2 PTPN11 NF1 HRAS
10 pulmonic stenosis 30.9 SOS1 NF1 BRAF
11 noonan syndrome 3 30.7 SOS1 SHOC2 RAF1 PTPN11 HRAS
12 pulmonary valve stenosis 30.7 SOS2 SOS1 SHOC2 RASA2 PTPN11 MIR1304
13 heart septal defect 30.5 SOS1 SHOC2 PTPN11 MIR499A
14 rhabdomyosarcoma 30.3 SOS1 PTPN11 NF1 MAP2K1 HRAS
15 neurofibromatosis, type i 30.3 SPRED1 SOS1 RASA2 RAF1 PTPN11 NF1
16 patent ductus arteriosus 1 30.2 SOS1 SHOC2 PTPN11
17 juvenile myelomonocytic leukemia 30.2 SPRED1 SOS2 SOS1 RASA2 RAF1 PTPN11
18 cardiofaciocutaneous syndrome 1 30.1 SPRED1 SOS2 SOS1 SHOC2 RASA2 RAF1
19 noonan syndrome-like disorder with loose anagen hair 30.1 SOS2 SOS1 SHOC2 PTPN11 MAP2K1 HRAS
20 neurofibromatosis-noonan syndrome 30.1 SPRED1 SOS2 SOS1 SHOC2 PTPN11 NF1
21 rasopathy 29.9 SRC SPRED1 SOS2 SOS1 SHOC2 RASA2
22 costello syndrome 29.6 SPRED1 SOS2 SOS1 SHOC2 RASA2 PTPN11
23 leopard syndrome 3 11.7
24 lentiginosis, inherited patterned 11.5
25 atrial standstill 1 10.5
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
27 urachal adenocarcinoma 10.4 NF1 BRAF
28 acneiform dermatitis 10.4 MAP2K1 HRAS BRAF
29 spitz nevus 10.4 HRAS BRAF
30 noonan syndrome-like disorder with loose anagen hair 1 10.4 SHOC2 PTPN11 HRAS
31 melanoma in congenital melanocytic nevus 10.4 RAF1 HRAS BRAF
32 myelodysplastic/myeloproliferative neoplasm 10.4 PTPN11 NF1 HRAS
33 skin squamous cell carcinoma 10.4 RAF1 HRAS BRAF
34 vulvar melanoma 10.4 NF1 HRAS
35 pilomyxoid astrocytoma 10.4 RAF1 NF1 BRAF
36 testicular spermatocytic seminoma 10.4 PTPN11 HRAS
37 branchiootic syndrome 1 10.4
38 sensorineural hearing loss 10.4
39 malignant spindle cell melanoma 10.4 RASA2 NF1 HRAS
40 mucosal melanoma 10.4 SPRED1 NF1 BRAF
41 embryonal rhabdomyosarcoma 10.4 SOS1 PTPN11 HRAS
42 skin benign neoplasm 10.4 NF1 HRAS BRAF
43 keratosis pilaris atrophicans faciei 10.4 SOS1 PTPN11 NF1 MAP2K1
44 pilocytic astrocytoma of cerebellum 10.4 NF1 BRAF
45 pylorospasm 10.4 SOS2 RASA2
46 acantholytic acanthoma 10.4 RAF1 NF1
47 villonodular synovitis 10.4 SOS1 PTPN11
48 suppression of tumorigenicity 12 10.4 MAP2K1 HRAS BRAF
49 noonan syndrome and noonan-related syndrome 10.4 SOS1 RAF1 PTPN11 MAP2K2 BRAF
50 plasma cell neoplasm 10.4 PTPN11 NF1 HRAS BRAF

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

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Human phenotypes related to Noonan Syndrome with Multiple Lentigines:

58 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
3 melanocytic nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000995
4 hypertrophic cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001639
5 arrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011675
6 bundle branch block 58 31 hallmark (90%) Very frequent (99-80%) HP:0011710
7 abnormal pulmonary valve morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001641
8 pulmonic stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001642
9 freckling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001480
10 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
11 multiple lentigines 58 31 hallmark (90%) Very frequent (99-80%) HP:0001003
12 abnormality of the pulmonary artery 58 31 hallmark (90%) Very frequent (99-80%) HP:0004414
13 severe sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0008625
14 intellectual disability 31 hallmark (90%) HP:0001249
15 alopecia 31 hallmark (90%) HP:0001596
16 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
17 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
18 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
19 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
20 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
21 webbed neck 58 31 frequent (33%) Frequent (79-30%) HP:0000465
22 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
23 sprengel anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000912
24 scapular winging 58 31 frequent (33%) Frequent (79-30%) HP:0003691
25 mitral valve prolapse 58 31 frequent (33%) Frequent (79-30%) HP:0001634
26 decreased fertility 58 31 frequent (33%) Frequent (79-30%) HP:0000144
27 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
28 atrioventricular canal defect 58 31 frequent (33%) Frequent (79-30%) HP:0006695
29 microcephaly 31 frequent (33%) HP:0000252
30 cachexia 31 frequent (33%) HP:0004326
31 sparse hair 31 frequent (33%) HP:0008070
32 hypogonadism 31 frequent (33%) HP:0000135
33 seizure 31 frequent (33%) HP:0001250
34 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
35 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
36 sensorineural hearing impairment 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000407
37 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
38 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
39 aplasia/hypoplasia of the abdominal wall musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0010318
40 myocardial infarction 58 31 occasional (7.5%) Occasional (29-5%) HP:0001658
41 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
42 myelodysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002863
43 subcutaneous nodule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001482
44 abnormality of the voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001608
45 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
46 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298
47 triangular face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000325
48 neuroblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0003006
49 abnormal localization of kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0100542
50 excessive wrinkled skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0007392

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:

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 9.7 SOS1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 9.7 BRAF
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-118 9.7 PTPN11
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 9.7 SOS1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 9.7 PTPN11
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 9.7 PTPN11
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.7 PTPN11 RAF1 SOS1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.7 RAF1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 9.7 BRAF
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.7 BRAF
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 9.7 PTPN11
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-194 9.7 BRAF
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.7 SOS1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.7 RAF1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.7 BRAF
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 9.7 BRAF
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-32 9.7 BRAF
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 9.7 PTPN11
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-47 9.7 PTPN11
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.7 SOS1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.7 BRAF
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-97 9.7 NF1
23 Decreased cell migration GR00055-A-1 9.5 SOS1 MAP2K2
24 Decreased cell migration GR00055-A-3 9.5 BRAF HRAS

MGI Mouse Phenotypes related to Noonan Syndrome with Multiple Lentigines:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.4 ACP1 BRAF HRAS MAP2K1 MAP2K2 MPZL1
2 growth/size/body region MP:0005378 10.38 ACP1 BRAF HRAS MAP2K1 MAP2K2 MPZL1
3 cellular MP:0005384 10.29 ACP1 BRAF MAP2K1 MAP2K2 NF1 NFATC4
4 craniofacial MP:0005382 10.28 BRAF HRAS MAP2K1 MAP2K2 NF1 NFATC4
5 endocrine/exocrine gland MP:0005379 10.27 BRAF HRAS MAP2K1 MAP2K2 NF1 NFATC4
6 homeostasis/metabolism MP:0005376 10.27 ACP1 BRAF HRAS MAP2K1 MAP2K2 NF1
7 mortality/aging MP:0010768 10.25 BRAF HRAS MAP2K1 MAP2K2 MPZL1 NF1
8 integument MP:0010771 10.21 BRAF HRAS MAP2K1 MAP2K2 NF1 PPP1R13L
9 digestive/alimentary MP:0005381 10.18 BRAF HRAS MAP2K1 MAP2K2 NF1 NFATC4
10 embryo MP:0005380 10.16 BRAF MAP2K1 NF1 NFATC4 PTPN11 RAF1
11 muscle MP:0005369 10.07 ACP1 BRAF HRAS NF1 NFATC4 PPP1R13L
12 normal MP:0002873 9.96 BRAF HRAS MAP2K1 MAP2K2 MPZL1 NF1
13 neoplasm MP:0002006 9.92 BRAF HRAS MAP2K1 MAP2K2 NF1 PTPN11
14 respiratory system MP:0005388 9.76 BRAF HRAS NF1 PTPN11 RAF1 SHOC2
15 skeleton MP:0005390 9.7 BRAF HRAS MAP2K1 MAP2K2 MPZL1 NF1
16 vision/eye MP:0005391 9.28 BRAF MAP2K1 MAP2K2 NF1 PPP1R13L PTPN11
Sources

Drugs & Therapeutics for Noonan Syndrome with Multiple Lentigines

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Consequences of Noonan Syndrome/LEOPARD Syndrome Associated Shp2 Mutations on Different Signaling Pathways Activation: Relationship With Hormonal Sensitivity Unknown status NCT02486731
2 Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies. Recruiting NCT04395495

Search NIH Clinical Center for Noonan Syndrome with Multiple Lentigines

Cochrane evidence based reviews: leopard syndrome

Sources

Genetic Tests for Noonan Syndrome with Multiple Lentigines

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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

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

40
Heart, Skin, Testes, Myeloid, Brain, Kidney, Lung
Sources

Publications for Noonan Syndrome with Multiple Lentigines

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Articles related to Noonan Syndrome with Multiple Lentigines:

(show top 50) (show all 449)
# Title Authors PMID Year
1
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 6 25 54 61
17603483 2007
2
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. 61 6 54 25
16638574 2006
3
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 61 6 54 25
16358218 2006
4
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. 6 54 25 61
15470362 2004
5
PTPN11 mutations in LEOPARD syndrome. 25 6 61 54
12161596 2002
6
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence. 25 6 61
19416762 2009
7
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. 61 25 6
16377799 2006
8
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 6 25 61
12058348 2002
9
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 54 61 6
20308328 2010
10
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature. 61 54 6
19768645 2010
11
PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan. 54 6 61
19864201 2009
12
PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link? 61 54 6
19582499 2009
13
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 25 6
19206169 2009
14
IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation. 61 54 6
19273734 2009
15
Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11. 54 61 6
19054014 2009
16
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. 61 6 54
18849586 2009
17
LEOPARD syndrome with partly normal skin and sex chromosome mosaicism. 61 54 6
17935252 2007
18
Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 6 25
17603482 2007
19
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype". 61 54 6
16733669 2006
20
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). 6 54 61
16679933 2006
21
Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation. 6 54 61
16369799 2006
22
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 25 6
15987685 2005
23
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. 61 54 6
15690106 2005
24
Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 61 54 6
15389709 2004
25
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 6 61 54
15520399 2004
26
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. 6 25
14974085 2004
27
A novel PTPN11 mutation in LEOPARD syndrome. 61 6 54
14961557 2003
28
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 6 61
28650561 2017
29
Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. 6 61
28483241 2017
30
Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination. 61 6
27659786 2016
31
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. 61 6
25884655 2015
32
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. 61 6
24935154 2014
33
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 61 6
24718990 2014
34
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 6 61
24767283 2014
35
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 6 61
24628801 2014
36
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 6 61
24451042 2014
37
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation. 61 6
23813970 2013
38
Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. 61 6
23799168 2013
39
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. 61 6
24775816 2013
40
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). 61 6
22528600 2012
41
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1. 6 61
22585553 2012
42
The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. 6 61
22058153 2012
43
LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling. 6 61
21803945 2011
44
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. 61 6
21910226 2011
45
RASopathies: Clinical Diagnosis in the First Year of Life. 6 61
22190897 2011
46
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? 61 6
22681964 2011
47
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. 6 61
21747628 2011
48
Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. 6 61
21339643 2011
49
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. 6 61
21677813 2011
50
Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome). 6 61
20883402 2010
Sources

Variations for Noonan Syndrome with Multiple Lentigines

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ClinVar genetic disease variations for Noonan Syndrome with Multiple Lentigines:

6 (show top 50) (show all 314)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPP1R13L NM_006663.4(PPP1R13L):c.2241C>G (p.Tyr747Ter) SNV Pathogenic 427813 rs1114167453 GRCh37: 19:45888827-45888827
GRCh38: 19:45385569-45385569
2 RAF1 NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) SNV Pathogenic 13960 rs80338797 GRCh37: 3:12626123-12626123
GRCh38: 3:12584624-12584624
3 RAF1 NM_001354689.3(RAF1):c.1516G>A (p.Asp506Asn) SNV Pathogenic 21341 rs80338798 GRCh37: 3:12627260-12627260
GRCh38: 3:12585761-12585761
4 RAF1 NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) SNV Pathogenic 13960 rs80338797 GRCh37: 3:12626123-12626123
GRCh38: 3:12584624-12584624
5 BRAF NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) SNV Pathogenic 29807 rs387906661 GRCh37: 7:140501351-140501351
GRCh38: 7:140801551-140801551
6 BRAF NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) SNV Pathogenic 29807 rs387906661 GRCh37: 7:140501351-140501351
GRCh38: 7:140801551-140801551
7 BRAF NM_001374258.1(BRAF):c.735A>T (p.Leu245Phe) SNV Pathogenic 40348 rs397507466 GRCh37: 7:140501337-140501337
GRCh38: 7:140801537-140801537
8 BRAF NM_001374258.1(BRAF):c.735A>C (p.Leu245Phe) SNV Pathogenic 40347 rs397507466 GRCh37: 7:140501337-140501337
GRCh38: 7:140801537-140801537
9 BRAF NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) SNV Pathogenic 29807 rs387906661 GRCh37: 7:140501351-140501351
GRCh38: 7:140801551-140801551
10 BRAF NM_001374258.1(BRAF):c.722C>T (p.Thr241Met) SNV Pathogenic 29805 rs387906660 GRCh37: 7:140501350-140501350
GRCh38: 7:140801550-140801550
11 RAF1 NM_001354689.3(RAF1):c.505G>C (p.Gly169Arg) SNV Pathogenic 265535 rs886039607 GRCh37: 3:12650341-12650341
GRCh38: 3:12608842-12608842
12 RAF1 NM_001354689.3(RAF1):c.788T>A (p.Val263Asp) SNV Pathogenic 496189 rs397516830 GRCh37: 3:12645681-12645681
GRCh38: 3:12604182-12604182
13 RAF1 NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) SNV Pathogenic 13960 rs80338797 GRCh37: 3:12626123-12626123
GRCh38: 3:12584624-12584624
14 RAF1 NM_001354689.3(RAF1):c.776C>A (p.Ser259Tyr) SNV Pathogenic 44633 rs397516827 GRCh37: 3:12645693-12645693
GRCh38: 3:12604194-12604194
15 PTPN11 NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) SNV Pathogenic 13344 rs121918470 GRCh37: 12:112926909-112926909
GRCh38: 12:112489105-112489105
16 PTPN11 NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) SNV Pathogenic 13342 rs121918468 GRCh37: 12:112926248-112926248
GRCh38: 12:112488444-112488444
17 PTPN11 NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser) SNV Pathogenic 40546 rs121918468 GRCh37: 12:112926248-112926248
GRCh38: 12:112488444-112488444
18 PTPN11 NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) SNV Pathogenic 13342 rs121918468 GRCh37: 12:112926248-112926248
GRCh38: 12:112488444-112488444
19 PTPN11 NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) SNV Pathogenic 40554 rs397507542 GRCh37: 12:112926873-112926873
GRCh38: 12:112489069-112489069
20 PTPN11 NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) SNV Pathogenic 40563 rs397507548 GRCh37: 12:112926897-112926897
GRCh38: 12:112489093-112489093
21 PTPN11 NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) SNV Pathogenic 40566 rs397507549 GRCh37: 12:112926908-112926908
GRCh38: 12:112489104-112489104
22 PTPN11 NM_002834.4(PTPN11):c.836A>C (p.Tyr279Ser) SNV Pathogenic 65666 rs121918456 GRCh37: 12:112910827-112910827
GRCh38: 12:112473023-112473023
23 PTPN11 NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) SNV Pathogenic 40563 rs397507548 GRCh37: 12:112926897-112926897
GRCh38: 12:112489093-112489093
24 PTPN11 NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) SNV Pathogenic 13325 rs121918454 GRCh37: 12:112888199-112888199
GRCh38: 12:112450395-112450395
25 PTPN11 NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) SNV Pathogenic 40489 rs397507506 GRCh37: 12:112888158-112888158
GRCh38: 12:112450354-112450354
26 PTPN11 NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) SNV Pathogenic 13334 rs121918462 GRCh37: 12:112888202-112888202
GRCh38: 12:112450398-112450398
27 PTPN11 NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) SNV Pathogenic 13344 rs121918470 GRCh37: 12:112926909-112926909
GRCh38: 12:112489105-112489105
28 PTPN11 NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) SNV Pathogenic 40495 rs397507510 GRCh37: 12:112888165-112888165
GRCh38: 12:112450361-112450361
29 PTPN11 NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) SNV Pathogenic 13324 rs121918453 GRCh37: 12:112888198-112888198
GRCh38: 12:112450394-112450394
30 PTPN11 NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) SNV Pathogenic 40561 rs397507546 GRCh37: 12:112926888-112926888
GRCh38: 12:112489084-112489084
31 PTPN11 NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) SNV Pathogenic 13324 rs121918453 GRCh37: 12:112888198-112888198
GRCh38: 12:112450394-112450394
32 PTPN11 NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) SNV Pathogenic 40502 rs397507514 GRCh37: 12:112888212-112888212
GRCh38: 12:112450408-112450408
33 PTPN11 NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) SNV Pathogenic 40487 rs397507505 GRCh37: 12:112888156-112888156
GRCh38: 12:112450352-112450352
34 PTPN11 NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) SNV Pathogenic 40518 rs397507523 GRCh37: 12:112910758-112910758
GRCh38: 12:112472954-112472954
35 PTPN11 NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) SNV Pathogenic 40554 rs397507542 GRCh37: 12:112926873-112926873
GRCh38: 12:112489069-112489069
36 PTPN11 NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) SNV Pathogenic 40566 rs397507549 GRCh37: 12:112926908-112926908
GRCh38: 12:112489104-112489104
37 PTPN11 NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) SNV Pathogenic 13344 rs121918470 GRCh37: 12:112926909-112926909
GRCh38: 12:112489105-112489105
38 PTPN11 NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) SNV Pathogenic 13345 rs121918470 GRCh37: 12:112926909-112926909
GRCh38: 12:112489105-112489105
39 RAF1 NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) SNV Pathogenic 13957 rs80338796 GRCh37: 3:12645699-12645699
GRCh38: 3:12604200-12604200
40 RAF1 NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile) SNV Pathogenic 21342 rs80338799 GRCh37: 3:12627244-12627244
GRCh38: 3:12585745-12585745
41 RAF1 NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) SNV Pathogenic 13957 rs80338796 GRCh37: 3:12645699-12645699
GRCh38: 3:12604200-12604200
42 PTPN11 NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) SNV Pathogenic 13328 rs121918456 GRCh37: 12:112910827-112910827
GRCh38: 12:112473023-112473023
43 PTPN11 NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) SNV Pathogenic 13343 rs121918469 GRCh37: 12:112926258-112926258
GRCh38: 12:112488454-112488454
44 PTPN11 NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) SNV Pathogenic 13331 rs121918457 GRCh37: 12:112926270-112926270
GRCh38: 12:112488466-112488466
45 PTPN11 NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) SNV Pathogenic 40553 rs397507541 GRCh37: 12:112926872-112926872
GRCh38: 12:112489068-112489068
46 PTPN11 NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) SNV Pathogenic 13328 rs121918456 GRCh37: 12:112910827-112910827
GRCh38: 12:112473023-112473023
47 PTPN11 NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) SNV Pathogenic 13331 rs121918457 GRCh37: 12:112926270-112926270
GRCh38: 12:112488466-112488466
48 PTPN11 NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) SNV Pathogenic 44614 rs397507527 GRCh37: 12:112910793-112910793
GRCh38: 12:112472989-112472989
49 PTPN11 NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) SNV Pathogenic 40552 rs397507540 GRCh37: 12:112926852-112926852
GRCh38: 12:112489048-112489048
50 PTPN11 NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) SNV Pathogenic 40558 rs397507545 GRCh37: 12:112926887-112926887
GRCh38: 12:112489083-112489083
Sources

Expression for Noonan Syndrome with Multiple Lentigines

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

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Pathways related to Noonan Syndrome with Multiple Lentigines according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Ras signaling pathway hsa04014
3 Neurotrophin signaling pathway hsa04722

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

(show top 50) (show all 205)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 65
Show member pathways
 14.31 SRC SPRED1 SOS2 SOS1 RASA2 RAF1
2
Innate Immune System 65
Show member pathways
 14.17 SRC SPRED1 SOS1 RASA2 RAF1 PTPN11
3
ERK Signaling 63
Show member pathways
 13.96 SRC SOS2 SOS1 RAF1 NF1 MAP2K2
4
HIV Life Cycle 65
Show member pathways
 13.89 SRC SOS1 RASA2 RAF1 PTPN11 NF1
5
GPCR Pathway 63
Show member pathways
 13.86 SRC SOS2 SOS1 RAF1 NFATC4 MAP2K2
6
PEDF Induced Signaling 63
Show member pathways
 13.83 SRC SOS2 SOS1 RAF1 NFATC4 MAP2K2
7
Developmental Biology 65
Show member pathways
 13.74 SRC SPRED1 SOS2 SOS1 RASA2 RAF1
8
Activation of cAMP-Dependent PKA 63
Show member pathways
 13.73 SRC SOS2 SOS1 RAF1 NFATC4 MAP2K2
9
TGF-Beta Pathway 63
Show member pathways
 13.71 SRC SOS2 SOS1 RAF1 PTPN11 MAP2K2
10
Integrin Pathway 63
Show member pathways
 13.61 SRC SOS2 SOS1 RASA2 RAF1 MAP2K2
11
Cytokine Signaling in Immune system 65
Show member pathways
 13.6 SRC SPRED1 SOS1 RASA2 RAF1 PTPN11
12
CREB Pathway 63
Show member pathways
 13.5 SRC SOS2 SOS1 RAF1 NFATC4 MAP2K2
13
Nanog in Mammalian ESC Pluripotency 63
Show member pathways
 13.47 SRC SOS2 SOS1 RAF1 MAP2K2 MAP2K1
14
Toll-like Receptor Signaling Pathway 36 1
Show member pathways
 13.44 SRC SOS2 SOS1 RAF1 NFATC4 MAP2K2
15
Phospholipase-C Pathway 63
Show member pathways
 13.33 SRC SOS2 SOS1 RAF1 NFATC4 MAP2K2
16
TNFR1 Pathway 63
Show member pathways
 13.25 SRC SOS2 SOS1 RAF1 MAP2K2 MAP2K1
17
fMLP Pathway 63
Show member pathways
 13.25 SRC SOS2 SOS1 RAF1 NFATC4 MAP2K2
18
Circadian entrainment 36
Show member pathways
 13.22 SRC SOS2 SOS1 RAF1 MAP2K2 MAP2K1
19
p70S6K Signaling 63
Show member pathways
 13.19 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
20
Human cytomegalovirus infection 36
Show member pathways
 13.19 SRC SOS2 SOS1 RAF1 NFATC4 MAP2K2
21
Focal Adhesion 36 1
Show member pathways
 13.16 SRC SOS2 SOS1 RAF1 MAP2K2 MAP2K1
22
PI3K-Akt signaling pathway 36
Show member pathways
 13.14 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
23
NFAT and Cardiac Hypertrophy 63
Show member pathways
 13.13 SRC SOS2 SOS1 RAF1 NFATC4 MAP2K2
24
Regulation of lipid metabolism Insulin signaling-generic cascades 23
Show member pathways
 13.12 SRC SOS2 SOS1 RAF1 PTPN11 MAP2K2
25
CCR5 Pathway in Macrophages 63
Show member pathways
 13.11 SRC SOS2 SOS1 RAF1 MAP2K1 HRAS
26
Development Angiotensin activation of ERK 23
Show member pathways
 13.11 SRC SOS2 SOS1 RAF1 MAP2K2 MAP2K1
27
Sertoli-Sertoli Cell Junction Dynamics 63
Show member pathways
 13.09 SRC RAF1 MAP2K2 MAP2K1 HRAS BRAF
28
ErbB4 Pathway 63
Show member pathways
 13.09 SRC SOS2 SOS1 RASA2 RAF1 MAP2K2
29
Pathways in cancer 36
13.07 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
30
Beta-Adrenergic Signaling 63
Show member pathways
 13.07 SRC SOS2 SOS1 RAF1 MAP2K2 MAP2K1
31
IL-2 Pathway 63
Show member pathways
 13.06 SRC SOS2 SOS1 RAF1 NFATC4 MAP2K2
32
Endometrial cancer 36
Show member pathways
 13.06 SRC SOS2 SOS1 RAF1 PTPN11 MAP2K2
33
IL-9 Signaling Pathways 64
Show member pathways
 13.04 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
34
MAPK signaling pathway 36 1
13.03 SOS2 SOS1 RASA2 RAF1 NF1 MAP2K2
35
Aldosterone synthesis and secretion 36
Show member pathways
 13.01 RAF1 MAP2K2 MAP2K1 HRAS BRAF
36
Gastric cancer 36
Show member pathways
 13.01 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
37
G-protein signaling G-Protein alpha-i signaling cascades 23
Show member pathways
 12.99 SRC SOS2 SOS1 RAF1 MAP2K2 MAP2K1
38
Development HGF signaling pathway 23
Show member pathways
 12.97 SRC SOS2 SOS1 RAF1 PTPN11 MAP2K2
39
Salmonella infection (KEGG) 36
Show member pathways
 12.94 SRC RAF1 PTPN11 MAP2K2 MAP2K1 HRAS
40
PKC-Theta Pathway 63
Show member pathways
 12.93 SOS2 SOS1 RAF1 NFATC4 MAP2K2 MAP2K1
41
G-Beta Gamma Signaling 63
Show member pathways
 12.93 SRC SOS2 SOS1 RAF1 MAP2K2 MAP2K1
42
Glioma 36
Show member pathways
 12.93 SRC SOS2 SOS1 RAF1 NF1 MAP2K2
43
RANK Signaling in Osteoclasts 63
Show member pathways
 12.92 SRC RAF1 NFATC4 MAP2K2 MAP2K1 HRAS
44
Neuropathic Pain-Signaling in Dorsal Horn Neurons 63
Show member pathways
 12.92 SRC SOS2 SOS1 RAF1 MAP2K2 MAP2K1
45
G-AlphaQ Signaling 63
Show member pathways
 12.92 SRC SOS2 SOS1 RAF1 NFATC4 MAP2K2
46
Regulation of actin cytoskeleton 36 1
12.91 SRC SOS2 SOS1 RAF1 MAP2K2 MAP2K1
47
Immune response NFAT in immune response 23
Show member pathways
 12.89 SOS2 SOS1 RAF1 NFATC4 MAP2K2 MAP2K1
48
T cell receptor signaling pathway 36
Show member pathways
 12.87 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
49
TRAF Pathway 63
Show member pathways
 12.86 SRC SOS2 SOS1 RAF1 MAP2K2 MAP2K1
50
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 23
Show member pathways
 12.86 SRC SOS2 SOS1 RAF1 MAP2K2 MAP2K1
Sources

GO Terms for Noonan Syndrome with Multiple Lentigines

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.86 SRC SPRED1 SOS1 SHOC2 RASA2 RAF1
2 cytosol GO:0005829 9.53 SRC SPRED1 SOS2 SOS1 SHOC2 RASA2

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.18 SRC SOS1 SHOC2 RASA2 RAF1 NF1
2 positive regulation of apoptotic process GO:0043065 9.97 SRC SOS2 SOS1 NFATC4 NF1
3 heart development GO:0007507 9.89 RAF1 PTPN11 NFATC4 NF1 MAP2K1
4 peptidyl-tyrosine phosphorylation GO:0018108 9.83 SRC MAP2K2 MAP2K1 BRAF
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.83 SRC PTPN11 MAP2K1 HRAS BRAF
6 ephrin receptor signaling pathway GO:0048013 9.81 SRC PTPN11 HRAS
7 multicellular organism growth GO:0035264 9.8 SOS1 PTPN11 PPP1R13L
8 fibroblast growth factor receptor signaling pathway GO:0008543 9.8 SPRED1 SHOC2 PTPN11
9 positive regulation of protein serine/threonine kinase activity GO:0071902 9.75 SRC MAP2K2 MAP2K1
10 thymus development GO:0048538 9.73 RAF1 MAP2K1 BRAF
11 Ras protein signal transduction GO:0007265 9.67 SOS1 SHOC2 NF1 HRAS
12 regulation of T cell proliferation GO:0042129 9.64 SOS2 SOS1
13 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.64 MAP2K2 MAP2K1
14 thyroid gland development GO:0030878 9.63 RAF1 MAP2K1 BRAF
15 regulation of stress-activated MAPK cascade GO:0032872 9.62 MAP2K2 MAP2K1
16 epidermal growth factor receptor signaling pathway GO:0007173 9.62 SRC SOS1 PTPN11 BRAF
17 Bergmann glial cell differentiation GO:0060020 9.61 PTPN11 MAP2K1
18 regulation of bone resorption GO:0045124 9.61 SRC NF1
19 lymphocyte homeostasis GO:0002260 9.6 SOS2 SOS1
20 regulation of axon regeneration GO:0048679 9.59 MAP2K1 BRAF
21 regulation of T cell differentiation in thymus GO:0033081 9.58 SOS2 SOS1
22 face development GO:0060324 9.58 RAF1 MAP2K1 BRAF
23 regulation of pro-B cell differentiation GO:2000973 9.55 SOS2 SOS1
24 regulation of Golgi inheritance GO:0090170 9.54 MAP2K2 MAP2K1
25 cerebellar cortex formation GO:0021697 9.51 PTPN11 MAP2K1
26 regulation of early endosome to late endosome transport GO:2000641 9.43 SRC MAP2K2 MAP2K1
27 positive regulation of small GTPase mediated signal transduction GO:0051057 9.33 SRC SOS2 SOS1
28 MAPK cascade GO:0000165 9.28 SPRED1 SOS1 RASA2 RAF1 NF1 MAP2K2
29 neurotrophin TRK receptor signaling pathway GO:0048011 9.26 SRC SOS1 RAF1 PTPN11

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.72 SRC RAF1 MAP2K2 MAP2K1 BRAF
2 mitogen-activated protein kinase kinase binding GO:0031434 9.37 RAF1 BRAF
3 MAP-kinase scaffold activity GO:0005078 9.26 MAP2K2 MAP2K1
4 protein tyrosine kinase activity GO:0004713 9.26 SRC MAP2K2 MAP2K1 BRAF
5 non-membrane spanning protein tyrosine phosphatase activity GO:0004726 9.16 PTPN11 ACP1
6 scaffold protein binding GO:0097110 8.92 SRC MAP2K2 MAP2K1 BRAF
Sources

Sources for Noonan Syndrome with Multiple Lentigines

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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
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