MCID: SCH063
MIFTS: 52

Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Sources:
24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

Name: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 52 24
Epidermal Nevus Syndrome 24 54 70 27
Jadassohn Nevus Phakomatosis 48 24 70
Organoid Nevus Phakomatosis 48 70 68
Nevus Sebaceus of Jadassohn 48 54 70
Sfm Syndrome 48 24 70
Schimmelpenning-Feuerstein-Mims Syndrome 52 70
Linear Sebaceous Nevus Syndrome 24 70
Schimmelpenning Syndrome 54 70
Solomon Syndrome 54 70
Jnp 48 70
 
Schimmelpenning Feuerstein Mims Syndrome 48
Linear Nevus Sebaceous Syndrome 48
Sebaceous Nevus Syndrome Linear 48
Linear Nevus Sebaceus Syndrome 54
Nevus, Sebaceous of Jadassohn 39
Epidermal Hamartoma Syndrome 54
Nevus Sebaceus Syndrome 54
Organoid Nevus Syndrome 54
Nevus Sebaceous 68
Sfm 70
Ss 70

Characteristics:

Orphanet epidemiological data:

54
nevus sebaceus of jadassohn:
Inheritance: Not applicable; Age of onset: Childhood; Age of death: any age
epidermal nevus syndrome:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal

HPO:

64
schimmelpenning-feuerstein-mims syndrome, somatic mosaic:
Inheritance: somatic mosaicism, sporadic

Classifications:



External Ids:

OMIM52 163200
ICD10 via Orphanet31 Q85.8
MESH via Orphanet40 C536114, D054000
UMLS via Orphanet69 C0334082
MedGen37 C0265318
MeSH39 D054000

Summaries for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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NIH Rare Diseases:48 Linear nevus sebaceous syndrome (LNSS) is a condition characterized by the association of a large, linear sebaceous nevus (type of birthmark) with a broad range of abnormalities that may affect every organ system, including the central nervous system (CNS). The nevus usually is located on the face, scalp, or neck. The most common CNS abnormalities are intellectual disability, seizures, and hemimegalencephaly (abnormal enlargement of one side of the brain). Various other CNS abnormalities have been reported. Other signs and symptoms may include various eye abnormalities; skeletal (bone) deformities; heart defects; urogenital abnormalities; and an increased risk of cancer with age. LNSS is not inherited (it is sporadic). It can be caused by a somatic mutation in any of several genes. Mutations that cause LNSS occur after fertilization and are only present in some body cells (mosaicism). Treatment is directed towards the specific symptoms in each person. Last updated: 1/4/2017

MalaCards based summary: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic, also known as epidermal nevus syndrome, is related to epidermal nevus, somatic and segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, and has symptoms including prominent occiput, narrow forehead and telecanthus. An important gene associated with Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways are mTOR Pathway and Glioma. Affiliated tissues include bone, eye and brain, and related mouse phenotypes are Decreased cell migration and Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance.

OMIM:52 Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous... (163200) more...

UniProtKB/Swiss-Prot:70 Schimmelpenning-Feuerstein-Mims syndrome: A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis.

Related Diseases for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Diseases related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 135)
idRelated DiseaseScoreTop Affiliating Genes
1epidermal nevus, somatic30.3FGFR3, HRAS, KRAS, NRAS
2segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome12.0
3sickle cell anemia11.5
4sjogren's syndrome11.1
5didymosis aplasticosebacea11.0
6neutrophilic dermatosis, acute febrile10.8
7serotonin syndrome10.8
8mental retardation-hypotonic facies syndrome, x-linked10.8
9mental retardation smith fineman myers type10.8
10syringocystadenoma papilliferum10.4
11phacomatosis pigmentokeratotica10.3
12lupus erythematosus10.2
13adenoma10.2
14vagina sarcoma10.1HRAS, KRAS
15glomerulosclerosis10.1HRAS, KRAS
16gonococcal spondylitis10.1HRAS, KRAS
17myxosarcoma10.1HRAS, KRAS
18seminal vesicle chronic gonorrhea10.1HRAS, KRAS
19ureter adenocarcinoma10.1HRAS, KRAS
20trachea adenoid cystic carcinoma10.1HRAS, KRAS
21breast papillary carcinoma10.1HRAS, KRAS
22spindle epithelial tumor with thymus-like differentiation tumor10.1HRAS, KRAS
23uterine ligament serous adenocarcinoma10.1HRAS, KRAS
24appendix mucinous cystadenocarcinoma10.1HRAS, KRAS
25tabes dorsalis10.1HRAS, KRAS
26acanthoma10.1HRAS, KRAS
27migraine with aura10.1HRAS, KRAS
28ovarian serous adenofibroma10.1HRAS, KRAS
29advanced sleep phase syndrome10.1HRAS, KRAS
30papilloma10.1HRAS, KRAS
31rete testis neoplasm10.1HRAS, KRAS
32vibratory urticaria10.1HRAS, KRAS
33gastric adenocarcinoma10.1HRAS, KRAS
34epilepsy with generalized tonic-clonic seizures10.1HRAS, KRAS
35radioulnar synostosis10.1HRAS, KRAS
36pyoderma10.1HRAS, KRAS
37penis carcinoma in situ10.1FGFR3, HRAS
38intrahepatic cholangiocarcinoma10.1HRAS, KRAS
39breast scirrhous carcinoma10.1HRAS, KRAS
40growth restriction, severe, with distinctive facies10.1HRAS, KRAS
41hemangioma of lung10.1HRAS, KRAS
42early congenital syphilis10.1HRAS, KRAS
43gastrointestinal neuroendocrine tumor10.1HRAS, KRAS
44periapical granuloma10.0HRAS, KRAS
45systemic lupus erythematosus10.0
46cutaneous lupus erythematosus10.0
47dental caries10.0HRAS, KRAS
48ovarian wilms' cancer10.0HRAS, KRAS
49pancreatic somatostatinoma10.0HRAS, KRAS
50adult mesoblastic nephroma10.0FGFR3, HRAS

Graphical network of the top 20 diseases related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:



Diseases related to schimmelpenning-feuerstein-mims syndrome, somatic mosaic

Symptoms & Phenotypes for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Symptoms by clinical synopsis from OMIM:

163200

Clinical features from OMIM:

163200

Human phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

 64 54 (show all 82)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prominent occiput64 54 hallmark (90%) Very frequent (99-80%) HP:0000269
2 narrow forehead64 hallmark (90%) HP:0000341
3 telecanthus64 54 hallmark (90%) Very frequent (99-80%) HP:0000506
4 iris coloboma64 54 hallmark (90%) Very frequent (99-80%) HP:0000612
5 melanocytic nevus64 54 hallmark (90%) Very frequent (99-80%) HP:0000995
6 cavernous hemangioma64 54 hallmark (90%) Very frequent (99-80%) HP:0001048
7 seizures64 54 hallmark (90%) Very frequent (99-80%) HP:0001250
8 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
9 reduced tendon reflexes64 54 hallmark (90%) Very frequent (99-80%) HP:0001315
10 hyperreflexia64 54 hallmark (90%) Very frequent (99-80%) HP:0001347
11 frontal bossing64 54 hallmark (90%) Very frequent (99-80%) HP:0002007
12 eeg abnormality64 54 hallmark (90%) Very frequent (99-80%) HP:0002353
13 genu recurvatum64 54 hallmark (90%) Very frequent (99-80%) HP:0002816
14 vertebral segmentation defect64 54 hallmark (90%) Very frequent (99-80%) HP:0003422
15 aplasia/hypoplasia of the cerebellum64 54 hallmark (90%) Very frequent (99-80%) HP:0007360
16 aplasia/hypoplasia affecting the eye64 hallmark (90%) HP:0008056
17 adenoma sebaceum64 54 hallmark (90%) Very frequent (99-80%) HP:0009720
18 abnormal hair quantity64 hallmark (90%) HP:0011362
19 cognitive impairment64 hallmark (90%) HP:0100543
20 asymmetric growth64 54 hallmark (90%) Very frequent (99-80%) HP:0100555
21 facial asymmetry64 54 typical (50%) Frequent (79-30%) HP:0000324
22 plagiocephaly64 54 typical (50%) Frequent (79-30%) HP:0001357
23 porencephaly64 54 typical (50%) Frequent (79-30%) HP:0002132
24 irregular hyperpigmentation64 54 typical (50%) Frequent (79-30%) HP:0007400
25 dandy-walker malformation64 54 occasional (7.5%) Occasional (29-5%) HP:0001305
26 cerebral calcification64 54 occasional (7.5%) Occasional (29-5%) HP:0002514
27 aplasia/hypoplasia of the corpus callosum64 54 occasional (7.5%) Occasional (29-5%) HP:0007370
28 ophthalmoplegia64 rare (5%) HP:0000602
29 precocious puberty64 rare (5%) HP:0000826
30 hyperphosphaturia64 rare (5%) HP:0003109
31 corneal opacity64 rare (5%) HP:0007957
32 horseshoe kidney64 HP:0000085
33 cranial asymmetry64 HP:0000267
34 coloboma64 HP:0000589
35 osteopenia64 54 Very rare (<4-1%) HP:0000938
36 hypopigmentation of the skin64 54 Frequent (79-30%) HP:0001010
37 hemangioma64 HP:0001028
38 abnormality of finger64 HP:0001167
39 intellectual disability64 54 Very frequent (99-80%) HP:0001249
40 overgrowth64 HP:0001548
41 alopecia64 54 Very frequent (99-80%) HP:0001596
42 coarctation of aorta64 HP:0001680
43 abnormality of toe64 HP:0001780
44 basal cell carcinoma64 HP:0002671
45 kyphoscoliosis64 HP:0002751
46 recurrent fractures64 HP:0002757
47 short stature64 HP:0004322
48 hypophosphatemic rickets64 HP:0004912
49 abnormality of dental morphology64 HP:0006482
50 hemimegalencephaly64 HP:0007206
51 ichthyosis64 HP:0008064
52 nevus sebaceous64 HP:0010815
53 abnormality of dental color64 HP:0011073
54 abnormality of the eye54 Frequent (79-30%)
55 abnormality of vision54 Frequent (79-30%)
56 microphthalmia54 Very frequent (99-80%)
57 growth delay54 Occasional (29-5%)
58 ventriculomegaly54 Very frequent (99-80%)
59 biparietal narrowing54 Very frequent (99-80%)
60 nevus54 Very frequent (99-80%)
61 hyperpigmentation of the skin54 Frequent (79-30%)
62 spinal cord compression54 Frequent (79-30%)
63 spinal canal stenosis54 Frequent (79-30%)
64 atrophy of the spinal cord54 Frequent (79-30%)
65 progressive spastic paraparesis54 Frequent (79-30%)
66 pain54 Frequent (79-30%)
67 astigmatism54 Occasional (29-5%)
68 visual impairment54 Occasional (29-5%)
69 delayed speech and language development54 Occasional (29-5%)
70 global developmental delay54 Occasional (29-5%)
71 hypertonia54 Occasional (29-5%)
72 areflexia54 Occasional (29-5%)
73 thoracolumbar scoliosis54 Occasional (29-5%)
74 babinski sign54 Occasional (29-5%)
75 weakness of long finger extensor muscles54 Occasional (29-5%)
76 spinal cord tumor54 Occasional (29-5%)
77 lipoma54 Occasional (29-5%)
78 abnormality of brain morphology54 Occasional (29-5%)
79 polycystic kidney dysplasia54 Very rare (<4-1%)
80 abnormal facial shape54 Very rare (<4-1%)
81 rhabdomyosarcoma54 Very rare (<4-1%)
82 vitamin d deficiency54 Very rare (<4-1%)

UMLS symptoms related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:


seizures

GenomeRNAi Phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00055-A-19.3FGFR3, HRAS, KRAS
2GR00210-A9.2FGFR3, HRAS, NRAS
3GR00366-A-358.5FGFR3, KRAS, NRAS
4GR00381-A-14.9FGFR3, HRAS, KRAS, NRAS, FGFR3, HRAS

MGI Mouse Phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.4FGFR3, HRAS, KRAS, NRAS
2MP:00030128.4FGFR3, HRAS, KRAS, NRAS
3MP:00107718.3FGFR3, HRAS, KRAS, NRAS
4MP:00053828.3FGFR3, HRAS, KRAS, NRAS
5MP:00028738.3FGFR3, HRAS, KRAS, NRAS

Drugs & Therapeutics for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Drugs for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 21526
2ImmunoglobulinsPhase 26045
3Immunoglobulin GPhase 2265
4Antibodies, MonoclonalPhase 23795
5AntibodiesPhase 26045

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus SyndromeActive, not recruitingNCT02722798Phase 2
2Study of KRN23 in Adult Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)Active, not recruitingNCT02304367Phase 2

Search NIH Clinical Center for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic


Cochrane evidence based reviews: nevus, sebaceous of jadassohn

Genetic Tests for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Genetic tests related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

id Genetic test Affiliating Genes
1 Epidermal Nevus Syndrome27
2 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic24 HRAS, KRAS, NRAS

Anatomical Context for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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MalaCards organs/tissues related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

36
Bone, Eye, Brain, Tongue, Heart, Skin, Spinal cord

Publications for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Variations for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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UniProtKB/Swiss-Prot genetic disease variations for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

70
id Symbol AA change Variation ID SNP ID
1HRASp.Gly13ArgVAR_068817rs104894228

Clinvar genetic disease variations for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1KRASNM_004985.4(KRAS): c.35G> A (p.Gly12Asp)SNVPathogenicrs121913529GRCh37Chr 12, 25398284: 25398284
2KRASNM_004985.4(KRAS): c.35G> T (p.Gly12Val)SNVPathogenicrs121913529GRCh37Chr 12, 25398284: 25398284
3HRASNM_005343.3(HRAS): c.35G> T (p.Gly12Val)SNVPathogenicrs104894230GRCh37Chr 11, 534288: 534288
4HRASNM_005343.3(HRAS): c.34G> A (p.Gly12Ser)SNVPathogenicrs104894229GRCh37Chr 11, 534289: 534289
5HRASNM_005343.3(HRAS): c.35G> A (p.Gly12Asp)SNVPathogenicrs104894230GRCh37Chr 11, 534288: 534288
6HRASNM_005343.3(HRAS): c.34G> T (p.Gly12Cys)SNVPathogenicrs104894229GRCh37Chr 11, 534289: 534289
7NRASNM_002524.4(NRAS): c.182A> G (p.Gln61Arg)SNVPathogenicrs11554290GRCh37Chr 1, 115256529: 115256529
8HRASNM_005343.3(HRAS): c.182A> G (p.Gln61Arg)SNVPathogenicrs121913233GRCh38Chr 11, 533874: 533874
9FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)SNVPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
10FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)SNV, HaplotypePathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
11FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)SNVPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
12HRASNM_005343.3(HRAS): c.37G> C (p.Gly13Arg)SNVPathogenicrs104894228GRCh37Chr 11, 534286: 534286
13NRASNM_002524.4(NRAS): c.101C> T (p.Pro34Leu)SNVPathogenicrs397514553GRCh37Chr 1, 115258681: 115258681
14NRASNM_002524.4(NRAS): c.35G> A (p.Gly12Asp)SNVPathogenicrs121913237GRCh37Chr 1, 115258747: 115258747

Expression for genes affiliated with Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Search GEO for disease gene expression data for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic.

Pathways for genes affiliated with Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Pathways related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic according to GeneCards Suite gene sharing:

(show top 50)    (show all 96)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.5HRAS, KRAS, NRAS
2
Show member pathways
8.5HRAS, KRAS, NRAS
3
Show member pathways
8.5HRAS, KRAS, NRAS
4
Show member pathways
8.5HRAS, KRAS, NRAS
58.5HRAS, KRAS, NRAS
6
Show member pathways
8.5HRAS, KRAS, NRAS
78.5HRAS, KRAS, NRAS
8
Show member pathways
8.5HRAS, KRAS, NRAS
9
Show member pathways
8.5HRAS, KRAS, NRAS
108.5HRAS, KRAS, NRAS
11
Show member pathways
8.5HRAS, KRAS, NRAS
12
Show member pathways
8.5HRAS, KRAS, NRAS
13
Show member pathways
8.5HRAS, KRAS, NRAS
14
Show member pathways
8.5HRAS, KRAS, NRAS
158.5HRAS, KRAS, NRAS
16
Show member pathways
8.5HRAS, KRAS, NRAS
178.5HRAS, KRAS, NRAS
188.5HRAS, KRAS, NRAS
19
Show member pathways
8.5HRAS, KRAS, NRAS
20
Show member pathways
8.5HRAS, KRAS, NRAS
218.5HRAS, KRAS, NRAS
22
Show member pathways
8.5HRAS, KRAS, NRAS
23
Show member pathways
8.5HRAS, KRAS, NRAS
24
Show member pathways
8.5HRAS, KRAS, NRAS
25
Show member pathways
8.5HRAS, KRAS, NRAS
26
Show member pathways
8.5HRAS, KRAS, NRAS
27
Show member pathways
8.5HRAS, KRAS, NRAS
28
Show member pathways
8.5HRAS, KRAS, NRAS
29
Show member pathways
8.5HRAS, KRAS, NRAS
30
Show member pathways
8.5HRAS, KRAS, NRAS
31
Show member pathways
8.5HRAS, KRAS, NRAS
32
Show member pathways
8.5HRAS, KRAS, NRAS
33
Show member pathways
8.5HRAS, KRAS, NRAS
34
Show member pathways
8.5HRAS, KRAS, NRAS
35
Show member pathways
8.5HRAS, KRAS, NRAS
368.5HRAS, KRAS, NRAS
37
Show member pathways
8.5HRAS, KRAS, NRAS
388.5HRAS, KRAS, NRAS
39
Show member pathways
8.5HRAS, KRAS, NRAS
40
Show member pathways
8.5HRAS, KRAS, NRAS
41
Show member pathways
8.5HRAS, KRAS, NRAS
42
Show member pathways
8.5HRAS, KRAS, NRAS
438.5HRAS, KRAS, NRAS
448.5HRAS, KRAS, NRAS
45
Show member pathways
8.5HRAS, KRAS, NRAS
468.5HRAS, KRAS, NRAS
47
Show member pathways
8.5HRAS, KRAS, NRAS
48
Show member pathways
8.5HRAS, KRAS, NRAS
49
Show member pathways
8.5HRAS, KRAS, NRAS
50
Show member pathways
8.5HRAS, KRAS, NRAS

GO Terms for genes affiliated with Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Biological processes related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPK cascadeGO:004341010.0FGFR3, HRAS
2positive regulation of MAP kinase activityGO:004340610.0HRAS, KRAS
3regulation of long-term neuronal synaptic plasticityGO:00481699.9HRAS, KRAS
4social behaviorGO:00351769.9HRAS, KRAS
5positive regulation of cell proliferationGO:00082849.4FGFR3, HRAS, KRAS
6axon guidanceGO:00074119.2HRAS, KRAS, NRAS
7epidermal growth factor receptor signaling pathwayGO:00071739.2HRAS, KRAS, NRAS
8ERBB2 signaling pathwayGO:00381289.2HRAS, KRAS, NRAS
9Fc-epsilon receptor signaling pathwayGO:00380959.2HRAS, KRAS, NRAS
10leukocyte migrationGO:00509009.2HRAS, KRAS, NRAS
11Ras protein signal transductionGO:00072659.1HRAS, KRAS, NRAS
12MAPK cascadeGO:00001658.7FGFR3, HRAS, KRAS, NRAS
13stimulatory C-type lectin receptor signaling pathwayGO:00022238.5HRAS, KRAS, NRAS

Molecular functions related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1GTP bindingGO:00055258.5HRAS, KRAS, NRAS

Sources for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet