NSML
MCID: NNN026
MIFTS: 63

Noonan Syndrome with Multiple Lentigines (NSML)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Noonan Syndrome with Multiple Lentigines

MalaCards integrated aliases for Noonan Syndrome with Multiple Lentigines:

Name: Noonan Syndrome with Multiple Lentigines 11 24 19 42 58 28 5 14 75
Leopard Syndrome 11 24 19 42 58 53 43 71
Multiple Lentigines Syndrome 11 24 19 42
Cardiomyopathic Lentiginosis 19 42 58
Moynahan Syndrome 11 42 58
Progressive Cardiomyopathic Lentiginosis 11 42
Cardio-Cutaneous Syndrome 42 5
Lentiginosis Profusa 42 71
Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation of Growth, Deafnes 19
Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type 58
Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome 11
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 71
Progressive Cardiomyopathic Lentiginosis Syndrome 71
Familial Multiple Lentigines Syndrome 58
Lentiginosis Profusa Syndrome 11
Generalized Lentiginosis 11
Diffuse Lentiginosis 42
Gorlin Syndrome Ii 11
Nsml 42

Characteristics:


Inheritance:

Autosomal dominant 58

Prevelance:

Moynahan Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Noonan Syndrome with Multiple Lentigines: Neonatal 58
Moynahan Syndrome: Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare cardiac malformations
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Noonan Syndrome with Multiple Lentigines

MedlinePlus Genetics: 42 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 lentigines 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 Signal Transduction and ERK Signaling. Affiliated tissues include skin, heart and testes, and related phenotypes are intellectual disability and hypertelorism

GARD: 19 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 genetic changes in the PTPN11 gene; type 2 is caused by genetic changes in the RAF1 gene; and type 3 is caused by genetic changes in the BRAF gene. Other cases are caused by genetic changes 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 genetic change 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.

Orphanet 58 Noonan syndrome with multiple lentigines: A rare multisystem genetic disorder characterized by cutaneous lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

Moynahan syndrome: A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.

Disease Ontology: 11 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.

Wikipedia: 75 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 236)
# Related Disease Score Top Affiliating Genes
1 lentigines 32.0 RAF1 PTPN11 BRAF
2 noonan syndrome 1 31.8 SPRED1 SOS2 SOS1 SHOC2 RASA2 RASA1
3 hypertrophic cardiomyopathy 31.1 SOS2 SOS1 SHOC2 RAF1 PTPN11 NFATC4
4 neurofibroma 30.9 SPRED1 RASA2 NF1
5 noonan syndrome 3 30.8 SOS1 RAF1 PTPN11 HRAS
6 proteus syndrome 30.8 RASA1 NF1 HRAS
7 neurofibromatosis, type i 30.7 SPRED1 SOS1 RASA2 RASA1 RAF1 PTPN11
8 neurofibromatosis 30.6 SPRED1 SOS1 RASA2 RASA1 PTPN11 NF1
9 pulmonary valve stenosis 30.6 SPRED1 SOS2 SOS1 SHOC2 RASA2 PTPN11
10 melanoma 30.6 SOS1 RAF1 NF1 MAP2K2 MAP2K1 HRAS
11 pulmonic stenosis 30.6 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
12 melanoma in congenital melanocytic nevus 30.5 RAF1 HRAS BRAF
13 legius syndrome 30.5 SPRED1 NF1 HRAS
14 heart septal defect 30.5 SOS1 SHOC2 PTPN11 MIR499A
15 neurofibromatosis-noonan syndrome 30.5 SPRED1 SOS2 SOS1 SHOC2 RASA2 PTPN11
16 atrial heart septal defect 30.4 SOS2 SOS1 SHOC2 PTPN11 LZTR1
17 rasopathy 30.3 SPRED1 SOS2 SOS1 SHOC2 RASA2 RASA1
18 rhabdomyosarcoma 30.3 SOS1 PTPN11 NF1 MAP2K2 MAP2K1 HRAS
19 arteriovenous malformations of the brain 30.2 RASA2 RASA1 HRAS BRAF
20 dilated cardiomyopathy 30.2 SOS1 RAF1 PTPN11 PPP1R13L NFATC4 MIR499A
21 patent ductus arteriosus 1 30.2 SOS1 SHOC2 PTPN11
22 arteriovenous malformation 30.1 RASA2 RASA1 NF1 MAP2K1 HRAS BRAF
23 pseudo-turner syndrome 30.1 SOS2 SOS1 SHOC2 RAF1 PTPN11 MAP2K2
24 juvenile myelomonocytic leukemia 30.0 SPRED1 SOS2 SOS1 SHOC2 RASA2 RAF1
25 cardiofaciocutaneous syndrome 1 29.9 SPRED1 SOS2 SOS1 SHOC2 RASA2 RASA1
26 noonan syndrome-like disorder with loose anagen hair 29.9 SPRED1 SOS2 SOS1 SHOC2 RASA2 PTPN11
27 costello syndrome 29.3 SPRED1 SOS2 SOS1 SHOC2 RASA2 RASA1
28 leopard syndrome 1 11.8
29 leopard syndrome 2 11.8
30 leopard syndrome 3 11.7
31 lentiginosis, inherited patterned 11.5
32 cardiomyopathy, familial hypertrophic, 1 10.7
33 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
34 spitz nevus 10.4 HRAS BRAF
35 villonodular synovitis 10.4 SOS1 PTPN11
36 nuchal bleb, familial 10.4 SOS1 LZTR1
37 noonan syndrome-like disorder with loose anagen hair 1 10.4 SHOC2 PTPN11 HRAS
38 acral lentiginous melanoma 10.4 NF1 HRAS BRAF
39 malignant dermis tumor 10.4 SPRED1 NF1 HRAS
40 sensorineural hearing loss 10.4
41 vulvar melanoma 10.4 SPRED1 NF1 HRAS
42 nodular malignant melanoma 10.4 NF1 HRAS BRAF
43 malignant skin fibrous histiocytoma 10.4 SPRED1 NF1 HRAS
44 testicular spermatocytic seminoma 10.4 PTPN11 HRAS
45 pilomyxoid astrocytoma 10.4 RAF1 NF1 BRAF
46 peripheral nerve schwannoma 10.4 NF1 LZTR1
47 conjunctival nevus 10.4 NF1 HRAS
48 syringocystadenoma papilliferum 10.4 HRAS BRAF
49 malignant spindle cell melanoma 10.4 RASA2 NF1 HRAS
50 schimmelpenning-feuerstein-mims syndrome 10.4 SOS1 NF1 HRAS

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:

58 30 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
3 intrauterine growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001511
4 melanocytic nevus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000995
5 alopecia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001596
6 hypertrophic cardiomyopathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001639
7 arrhythmia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011675
8 bundle branch block 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011710
9 abnormal pulmonary valve morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001641
10 pulmonic stenosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001642
11 freckling 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001480
12 hyperextensible skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000974
13 multiple lentigines 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001003
14 abnormality of the pulmonary artery 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004414
15 severe sensorineural hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008625
16 seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001250
17 ptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000508
18 wide nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000431
19 pectus carinatum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000768
20 microcephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000252
21 short stature 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0004322
22 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
23 webbed neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000465
24 pectus excavatum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000767
25 sprengel anomaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000912
26 scapular winging 58 30 Frequent (33%) Frequent (79-30%)
HP:0003691
27 mitral valve prolapse 58 30 Frequent (33%) Frequent (79-30%)
HP:0001634
28 cachexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0004326
29 decreased fertility 58 30 Frequent (33%) Frequent (79-30%)
HP:0000144
30 low-set, posteriorly rotated ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000368
31 atrioventricular canal defect 58 30 Frequent (33%) Frequent (79-30%)
HP:0006695
32 sparse hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0008070
33 hypogonadism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000135
34 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
35 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001263
36 sensorineural hearing impairment 58 30 Occasional (7.5%) Very frequent (99-80%)
Occasional (29-5%)
HP:0000407
37 intellectual disability, mild 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001256
38 brachycephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000248
39 hyperkeratosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000962
40 aplasia/hypoplasia of the abdominal wall musculature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010318
41 myocardial infarction 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001658
42 melanoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002861
43 myelodysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002863
44 subcutaneous nodule 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001482
45 abnormality of the voice 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001608
46 hypospadias 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000047
47 spina bifida occulta 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003298
48 triangular face 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000325
49 neuroblastoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003006
50 abnormal localization of kidney 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100542

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:

25 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.66 NF1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.66 NF1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.66 RAF1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.66 SOS1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.66 SOS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.66 SOS1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.66 BRAF NF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-150 9.66 RAF1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.66 RAF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.66 SOS1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.66 PTPN11
12 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.66 NF1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.66 NF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.66 BRAF
15 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.66 RAF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.66 SOS1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.66 PTPN11
18 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.66 RAF1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.66 NF1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.66 PTPN11
21 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.66 SOS1
22 Increased cell migration GR00055-A-1 9.26 NF1
23 Increased cell migration GR00055-A-3 9.26 NF1

MGI Mouse Phenotypes related to Noonan Syndrome with Multiple Lentigines:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.4 ACP1 BRAF HRAS LZTR1 MAP2K1 MAP2K2
2 muscle MP:0005369 10.3 ACP1 BRAF HRAS LZTR1 MIR499A NF1
3 normal MP:0002873 10.28 BRAF HRAS MAP2K1 MAP2K2 MIR499A MPZL1
4 endocrine/exocrine gland MP:0005379 10.22 BRAF HRAS MAP2K1 MAP2K2 NF1 NFATC4
5 cardiovascular system MP:0005385 10.22 ACP1 BRAF HRAS LZTR1 MAP2K1 MAP2K2
6 craniofacial MP:0005382 10.18 BRAF HRAS LZTR1 MAP2K1 MAP2K2 NF1
7 cellular MP:0005384 10.15 ACP1 BRAF LZTR1 MAP2K1 MAP2K2 NF1
8 hearing/vestibular/ear MP:0005377 10.11 BRAF MAP2K1 MAP2K2 NF1 PTPN11 RAF1
9 embryo MP:0005380 10.11 BRAF MAP2K1 NF1 NFATC4 PTPN11 RAF1
10 neoplasm MP:0002006 10.09 BRAF HRAS MAP2K1 MAP2K2 NF1 PTPN11
11 digestive/alimentary MP:0005381 10.09 BRAF HRAS MAP2K1 MAP2K2 NF1 NFATC4
12 skeleton MP:0005390 10.03 BRAF HRAS LZTR1 MAP2K1 MAP2K2 MPZL1
13 vision/eye MP:0005391 9.85 BRAF MAP2K1 MAP2K2 NF1 PPP1R13L PTPN11
14 mortality/aging MP:0010768 9.8 BRAF HRAS LZTR1 MAP2K1 MAP2K2 MPZL1
15 integument MP:0010771 9.36 BRAF HRAS MAP2K1 MAP2K2 NF1 PPP1R13L

Drugs & Therapeutics for Noonan Syndrome with Multiple Lentigines

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 Completed 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

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 28

Anatomical Context for Noonan Syndrome with Multiple Lentigines

Organs/tissues related to Noonan Syndrome with Multiple Lentigines:

MalaCards : Skin, Heart, Testes, Bone, Kidney, Myeloid, Retina

Publications for Noonan Syndrome with Multiple Lentigines

Articles related to Noonan Syndrome with Multiple Lentigines:

(show top 50) (show all 516)
# Title Authors PMID Year
1
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 53 62 24 5
20308328 2010
2
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 53 62 24 5
17603483 2007
3
PTPN11 mutations in LEOPARD syndrome. 53 62 24 5
12161596 2002
4
Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. 62 24 5
21339643 2011
5
Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. 62 24 5
17697839 2007
6
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. 62 24 5
16377799 2006
7
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 62 24 5
12058348 2002
8
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature. 53 62 5
19768645 2010
9
PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan. 53 62 5
19864201 2009
10
PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link? 53 62 5
19582499 2009
11
IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation. 53 62 5
19273734 2009
12
Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11. 53 62 5
19054014 2009
13
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. 53 62 5
18849586 2009
14
Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation. 53 62 5
17927788 2007
15
LEOPARD syndrome with partly normal skin and sex chromosome mosaicism. 53 62 5
17935252 2007
16
Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 24 5
17603482 2007
17
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype". 53 62 5
16733669 2006
18
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. 53 62 5
16638574 2006
19
Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation. 53 62 5
16369799 2006
20
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). 53 62 5
16679933 2006
21
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 53 62 5
16358218 2006
22
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. 53 62 5
15690106 2005
23
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. 53 62 5
15470362 2004
24
Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 53 62 5
15389709 2004
25
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 53 62 5
15520399 2004
26
A novel PTPN11 mutation in LEOPARD syndrome. 53 62 5
14961557 2003
27
Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation. 62 5
25917897 2015
28
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. 62 5
25884655 2015
29
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. 62 5
24935154 2014
30
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 62 5
24718990 2014
31
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 62 5
24767283 2014
32
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 62 5
24628801 2014
33
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 62 5
24451042 2014
34
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation. 62 5
23813970 2013
35
Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. 62 5
23799168 2013
36
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. 62 5
24775816 2013
37
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). 62 5
22528600 2012
38
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1. 62 5
22585553 2012
39
The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. 62 5
22058153 2012
40
LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling. 62 5
21803945 2011
41
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. 62 5
21910226 2011
42
RASopathies: Clinical Diagnosis in the First Year of Life. 62 5
22190897 2011
43
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? 62 5
22681964 2011
44
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. 62 5
21747628 2011
45
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. 62 5
21677813 2011
46
Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome). 62 5
20883402 2010
47
Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis. 62 5
20493809 2010
48
Phenotype-genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes. 53 5
19725129 2009
49
[LEOPARD syndrome]. 62 5
19174044 2009
50
Visual function in Noonan and LEOPARD syndrome. 53 62 24
19568997 2008

Variations for Noonan Syndrome with Multiple Lentigines

ClinVar genetic disease variations for Noonan Syndrome with Multiple Lentigines:

5 (show all 43)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTPN11 NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser) SNV Pathogenic
40546 rs121918468 GRCh37: 12:112926248-112926248
GRCh38: 12:112488444-112488444
2 PPP1R13L NM_006663.4(PPP1R13L):c.2241C>G (p.Tyr747Ter) SNV Pathogenic
427813 rs1114167453 GRCh37: 19:45888827-45888827
GRCh38: 19:45385569-45385569
3 PTPN11 NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) SNV Pathogenic
40554 rs397507542 GRCh37: 12:112926873-112926873
GRCh38: 12:112489069-112489069
4 PTPN11 NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) SNV Pathogenic
Pathogenic
13328 rs121918456 GRCh37: 12:112910827-112910827
GRCh38: 12:112473023-112473023
5 PTPN11 NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) SNV Pathogenic
13342 rs121918468 GRCh37: 12:112926248-112926248
GRCh38: 12:112488444-112488444
6 PTPN11 NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) SNV Pathogenic
40563 rs397507548 GRCh37: 12:112926897-112926897
GRCh38: 12:112489093-112489093
7 PTPN11 NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) SNV Pathogenic
13331 rs121918457 GRCh37: 12:112926270-112926270
GRCh38: 12:112488466-112488466
8 PTPN11 NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) SNV Pathogenic
40518 rs397507523 GRCh37: 12:112910758-112910758
GRCh38: 12:112472954-112472954
9 PTPN11 NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) SNV Pathogenic
40525 rs397507529 GRCh37: 12:112910835-112910835
GRCh38: 12:112473031-112473031
10 PTPN11 NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) SNV Pathogenic
13343 rs121918469 GRCh37: 12:112926258-112926258
GRCh38: 12:112488454-112488454
11 PTPN11 NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) SNV Pathogenic
40553 rs397507541 GRCh37: 12:112926872-112926872
GRCh38: 12:112489068-112489068
12 PTPN11 NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) SNV Pathogenic
40566 rs397507549 GRCh37: 12:112926908-112926908
GRCh38: 12:112489104-112489104
13 PTPN11 NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) SNV Pathogenic
Pathogenic
13344 rs121918470 GRCh37: 12:112926909-112926909
GRCh38: 12:112489105-112489105
14 RAF1 NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) SNV Pathogenic
Not Provided
13960 rs80338797 GRCh37: 3:12626123-12626123
GRCh38: 3:12584624-12584624
15 RAF1 NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) SNV Pathogenic
Not Provided
13957 rs80338796 GRCh37: 3:12645699-12645699
GRCh38: 3:12604200-12604200
16 PTPN11 NM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro) SNV Pathogenic
40547 rs397507537 GRCh37: 12:112926269-112926269
GRCh38: 12:112488465-112488465
17 BRAF NM_004333.6(BRAF):c.2128-5dup DUP Uncertain Significance
44820 rs373442098 GRCh37: 7:140434574-140434575
GRCh38: 7:140734774-140734775
18 BRAF NM_004333.6(BRAF):c.2128-4del DEL Uncertain Significance
359044 rs886062014 GRCh37: 7:140434574-140434574
GRCh38: 7:140734774-140734774
19 MAP2K2 NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn) SNV Uncertain Significance
505022 rs886041310 GRCh37: 19:4117537-4117537
GRCh38: 19:4117539-4117539
20 RAF1 NM_002880.4(RAF1):c.*729AACA[4] MICROSAT Uncertain Significance
343092 rs371820097 GRCh37: 3:12625265-12625268
GRCh38: 3:12583766-12583769
21 PTPN11 NM_002834.5(PTPN11):c.*1157ATG[16] MICROSAT Uncertain Significance
307241 rs80269561 GRCh37: 12:112944750-112944751
GRCh38: 12:112506946-112506947
22 RAF1 NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn) SNV Uncertain Significance
181509 rs559632360 GRCh37: 3:12633259-12633259
GRCh38: 3:12591760-12591760
23 RAF1 NM_002880.3(RAF1):c.-340_-339GA[1] MICROSAT Uncertain Significance
40573 rs527774250 GRCh37: 3:12705621-12705622
GRCh38: 3:12664122-12664123
24 PTPN11 NM_002834.5(PTPN11):c.*2731G>A SNV Uncertain Significance
307254 rs768622106 GRCh37: 12:112946327-112946327
GRCh38: 12:112508523-112508523
25 PTPN11 NM_002834.5(PTPN11):c.*1157ATG[17] MICROSAT Uncertain Significance
307239 rs80269561 GRCh37: 12:112944750-112944751
GRCh38: 12:112506946-112506947
26 RAF1 NM_002880.4(RAF1):c.*729AACA[6] MICROSAT Uncertain Significance
343091 rs371820097 GRCh37: 3:12625264-12625265
GRCh38: 3:12583765-12583766
27 PTPN11 NM_002834.5(PTPN11):c.*41_*46del DEL Uncertain Significance
307227 rs886048967 GRCh37: 12:112943635-112943640
GRCh38: 12:112505831-112505836
28 PTPN11 NM_002834.5(PTPN11):c.*1157ATG[13] MICROSAT Uncertain Significance
307242 rs80269561 GRCh37: 12:112944751-112944756
GRCh38: 12:112506947-112506952
29 PTPN11 NM_002834.5(PTPN11):c.*656del DEL Uncertain Significance
307230 rs886048968 GRCh37: 12:112944241-112944241
GRCh38: 12:112506437-112506437
30 MAP2K2 NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu) SNV Uncertain Significance
40818 rs730880511 GRCh37: 19:4101030-4101030
GRCh38: 19:4101032-4101032
31 BRAF NM_004333.6(BRAF):c.2128-16_2128-15del DEL Uncertain Significance
359045 rs886062015 GRCh37: 7:140434585-140434586
GRCh38: 7:140734785-140734786
32 BRAF NM_004333.6(BRAF):c.2128-28dup DUP Uncertain Significance
359047 rs60814637 GRCh37: 7:140434597-140434598
GRCh38: 7:140734797-140734798
33 BRAF NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT INDEL Uncertain Significance
359046 rs886062016 GRCh37: 7:140434586-140434597
GRCh38: 7:140734786-140734797
34 BRAF NM_004333.6(BRAF):c.89G>A (p.Gly30Asp) SNV Likely Benign
666414 rs1273585752 GRCh37: 7:140624415-140624415
GRCh38: 7:140924615-140924615
35 PTPN11 NM_002834.5(PTPN11):c.*1006del DEL Likely Benign
307236 rs146940557 GRCh37: 12:112944602-112944602
GRCh38: 12:112506798-112506798
36 BRAF NM_004333.6(BRAF):c.2128-5del DEL Likely Benign
44821 rs373442098 GRCh37: 7:140434575-140434575
GRCh38: 7:140734775-140734775
37 RAF1 NM_002880.3(RAF1):c.-415-1C>G SNV Likely Benign
177923 rs61730434 GRCh37: 3:12705701-12705701
GRCh38: 3:12664202-12664202
38 PTPN11 NM_002834.5(PTPN11):c.*1157ATG[14] MICROSAT Likely Benign
307240 rs80269561 GRCh37: 12:112944751-112944753
GRCh38: 12:112506947-112506949
39 RAF1 NM_002880.4(RAF1):c.321-14dup DUP Likely Benign
44625 rs202103447 GRCh37: 3:12650847-12650848
GRCh38: 3:12609348-12609349
40 RAF1 NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile) SNV Not Provided
21342 rs80338799 GRCh37: 3:12627244-12627244
GRCh38: 3:12585745-12585745
41 BRAF NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) SNV Not Provided
40348 rs397507466 GRCh37: 7:140501337-140501337
GRCh38: 7:140801537-140801537
42 BRAF NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) SNV Not Provided
29807 rs387906661 GRCh37: 7:140501351-140501351
GRCh38: 7:140801551-140801551
43 RAF1 NM_002880.4(RAF1):c.1456G>A (p.Asp486Asn) SNV Not Provided
21341 rs80338798 GRCh37: 3:12627260-12627260
GRCh38: 3:12585761-12585761

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 directly related to Noonan Syndrome with Multiple Lentigines:

# Pathway Source
1 Signaling by RAF1 mutants Reactome 66

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

(show top 50) (show all 168)
# Super pathways Score Top Affiliating Genes
1 13.95 SPRED1 SOS2 SOS1 SHOC2 RASA2 RASA1
2
Show member pathways
13.94 SOS2 SOS1 RASA1 RAF1 NF1 MAP2K2
3
Show member pathways
13.94 SPRED1 SOS1 SHOC2 RAF1 PTPN11 NF1
4
Show member pathways
13.79 BRAF HRAS MAP2K1 MAP2K2 NFATC4 RAF1
5
Show member pathways
13.73 SOS2 SOS1 RAF1 NFATC4 MAP2K2 MAP2K1
6
Show member pathways
13.67 BRAF HRAS MAP2K1 MAP2K2 NFATC4 RAF1
7
Show member pathways
13.66 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
8
Show member pathways
13.66 SOS2 SOS1 RASA2 RASA1 RAF1 PTPN11
9
Show member pathways
13.55 SOS2 SOS1 RASA2 RAF1 MAP2K2 MAP2K1
10
Show member pathways
13.54 BRAF HRAS MAP2K1 MAP2K2 NF1 PTPN11
11
Show member pathways
13.44 HRAS MAP2K1 MAP2K2 NFATC4 RAF1 SOS1
12
Show member pathways
13.4 BRAF HRAS MAP2K1 MAP2K2 RAF1 SOS1
13
Show member pathways
13.26 SOS2 SOS1 RAF1 NFATC4 MAP2K2 MAP2K1
14
Show member pathways
13.17 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
15
Show member pathways
13.13 SOS2 SOS1 RASA1 RAF1 NFATC4 MAP2K2
16
Show member pathways
13.09 HRAS MAP2K1 MAP2K2 RAF1 SOS1 SOS2
17
Show member pathways
13.08 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
18
Show member pathways
13.08 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
19
Show member pathways
13.08 BRAF HRAS MAP2K1 MAP2K2 NFATC4 RAF1
20
Show member pathways
13.07 SOS2 SOS1 RAF1 NFATC4 MAP2K2 MAP2K1
21
Show member pathways
13.05 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
22 13.05 SPRED1 SOS1 RASA1 PTPN11 MAP2K2 MAP2K1
23
Show member pathways
13.04 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
24
Show member pathways
13.01 RAF1 MAP2K2 MAP2K1 HRAS BRAF
25
Show member pathways
13.01 SOS2 SOS1 RAF1 MAP2K1 HRAS BRAF
26
Show member pathways
12.98 SOS2 SOS1 RAF1 NFATC4 MAP2K2 MAP2K1
27
Show member pathways
12.95 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
28
Show member pathways
12.94 RAF1 MAP2K2 MAP2K1 HRAS BRAF
29
Show member pathways
12.92 SPRED1 RAF1 MAP2K2 MAP2K1 HRAS BRAF
30
Show member pathways
12.92 SOS2 SOS1 RAF1 NF1 MAP2K2 MAP2K1
31
Show member pathways
12.9 SOS2 SOS1 RAF1 NFATC4 MAP2K2 MAP2K1
32
Show member pathways
12.89 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
33
Show member pathways
12.87 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
34
Show member pathways
12.86 SOS2 SOS1 RAF1 PTPN11 NFATC4 MAP2K2
35
Show member pathways
12.85 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 BRAF
36
Show member pathways
12.85 SHOC2 RAF1 MAP2K2 MAP2K1 HRAS BRAF
37
Show member pathways
12.84 SOS2 SOS1 RAF1 PTPN11 NFATC4 MAP2K2
38 12.82 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
39
Show member pathways
12.81 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
40
Show member pathways
12.8 RAF1 MAP2K2 MAP2K1 HRAS BRAF
41
Show member pathways
12.8 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
42
Show member pathways
12.76 SOS1 PTPN11 MAP2K2 MAP2K1 HRAS BRAF
43
Show member pathways
12.75 HRAS MAP2K1 MAP2K2 PTPN11 RAF1 SOS1
44
Show member pathways
12.73 SOS2 SOS1 RASA1 PTPN11 HRAS
45
Show member pathways
12.73 SPRED1 SOS1 PTPN11 HRAS BRAF
46
Show member pathways
12.72 RAF1 PTPN11 MAP2K2 MAP2K1 HRAS
47
Show member pathways
12.7 SOS2 SOS1 RASA1 RAF1 MAP2K2 MAP2K1
48
Show member pathways
12.7 SOS2 SOS1 RASA2 RASA1 RAF1 NF1
49
Show member pathways
12.67 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
50
Show member pathways
12.65 SOS2 SOS1 RASA1 RAF1 PTPN11 MAP2K2

GO Terms for Noonan Syndrome with Multiple Lentigines

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

# Name GO ID Score Top Affiliating Genes
1 GTPase complex GO:1905360 8.92 SOS1 HRAS

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.46 SOS1 SHOC2 RASA2 RASA1 RAF1 PTPN11
2 heart development GO:0007507 10.26 PTPN11 NFATC4 NF1 MAP2K2 MAP2K1
3 positive regulation of GTPase activity GO:0043547 10.22 HRAS NF1 RASA1 SOS1 SOS2
4 negative regulation of neuron apoptotic process GO:0043524 10.2 RASA1 NFATC4 HRAS BRAF
5 regulation of cell population proliferation GO:0042127 10.19 SOS1 NF1 HRAS BRAF
6 positive regulation of MAPK cascade GO:0043410 10.19 RAF1 MAP2K2 MAP2K1 HRAS
7 fibroblast growth factor receptor signaling pathway GO:0008543 10.12 SOS1 SHOC2 PTPN11
8 ERK1 and ERK2 cascade GO:0070371 10.11 BRAF MAP2K1 MAP2K2
9 Ras protein signal transduction GO:0007265 10.1 HRAS NF1 SHOC2 SOS1 SOS2
10 epidermal growth factor receptor signaling pathway GO:0007173 10.08 BRAF PTPN11 SOS1
11 thymus development GO:0048538 10.03 RAF1 MAP2K2 MAP2K1 BRAF
12 positive regulation of axonogenesis GO:0050772 10.02 MAP2K2 MAP2K1 BRAF
13 positive regulation of protein serine/threonine kinase activity GO:0071902 9.97 MAP2K1 MAP2K2 RAF1 SOS1
14 positive regulation of small GTPase mediated signal transduction GO:0051057 9.96 SOS2 SOS1
15 regulation of early endosome to late endosome transport GO:2000641 9.93 MAP2K2 MAP2K1
16 neurotrophin TRK receptor signaling pathway GO:0048011 9.93 SOS1 RAF1 PTPN11
17 trachea formation GO:0060440 9.92 MAP2K2 MAP2K1
18 thyroid gland development GO:0030878 9.92 RAF1 MAP2K2 MAP2K1 BRAF
19 regulation of T cell differentiation in thymus GO:0033081 9.91 SOS2 SOS1
20 regulation of MAPK cascade GO:0043408 9.89 SPRED1 PTPN11 NF1
21 epithelial cell proliferation involved in lung morphogenesis GO:0060502 9.88 MAP2K1 MAP2K2
22 regulation of Golgi inheritance GO:0090170 9.88 MAP2K1 MAP2K2
23 regulation of pro-B cell differentiation GO:2000973 9.87 SOS1 SOS2
24 cerebellar cortex formation GO:0021697 9.84 PTPN11 MAP2K1
25 negative regulation of Ras protein signal transduction GO:0046580 9.8 LZTR1 NF1 RASA1 RASA2
26 insulin receptor signaling pathway GO:0008286 9.78 SOS2 SOS1 RAF1 HRAS
27 regulation of axon regeneration GO:0048679 9.77 MAP2K2 MAP2K1 BRAF
28 MAPK cascade GO:0000165 9.73 RAF1 NF1 MAP2K2 MAP2K1 HRAS BRAF
29 lymphocyte homeostasis GO:0002260 9.63 SOS2 SOS1
30 positive regulation of miRNA maturation GO:1903800 9.62 MAP2K2 MAP2K1
31 insulin-like growth factor receptor signaling pathway GO:0048009 9.46 SOS1 RAF1 MAP2K2 MAP2K1
32 face development GO:0060324 9.23 RAF1 MAP2K2 MAP2K1 BRAF

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 activity GO:0004708 9.43 MAP2K2 MAP2K1 BRAF
2 protein serine/threonine kinase activator activity GO:0043539 9.17 SOS1 RAF1 MAP2K2 MAP2K1 HRAS

Sources for Noonan Syndrome with Multiple Lentigines

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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