MCID: SCH063
MIFTS: 55

Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic malady

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

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

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Sources:
49OMIM, 22GeneTests, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 65UMLS, 47Novoseek, 51Orphanet, 23Genetics Home Reference, 24GTR, 36MeSH, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

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

Name: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 49 22
Epidermal Nevus Syndrome 22 47 51 67
Jadassohn Nevus Phakomatosis 45 22 67
Organoid Nevus Phakomatosis 45 67 65
Sfm Syndrome 45 22 67
Linear Sebaceous Nevus Syndrome 22 67
Nevus Sebaceus of Jadassohn 45 67
Epidermal Nevus 23 24
Jnp 45 67
Schimmelpenning-Feuerstein-Mims Syndrome 67
Schimmelpenning Feuerstein Mims Syndrome 45
Sebaceous Nevus Syndrome Linear 45
 
Linear Nevus Sebaceous Syndrome 45
Nevus, Sebaceous of Jadassohn 36
Epidermal Hamartoma Syndrome 51
Schimmelpenning Syndrome 67
Juberg-Marsidi Syndrome 65
Solomon Syndrome 67
Epidermal Naevus 23
Nevus, Epidermal 65
Nevus Sebaceous 65
Sfm 67
Ss 67

Characteristics:

Orphanet epidemiological data:

51
epidermal nevus syndrome:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal

HPO:

61
schimmelpenning-feuerstein-mims syndrome, somatic mosaic:
Inheritance: sporadic, somatic mosaicism


Classifications:



External Ids:

OMIM49 163200
Orphanet51 35125
ICD10 via Orphanet28 Q85.8
MESH via Orphanet37 C536114, D054000
UMLS via Orphanet66 C0334082
MedGen34 C0265318
MeSH36 D054000
UMLS65 C0265329, C3854181, C0796003 C0334082, more

Summaries for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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UniProtKB/Swiss-Prot:67 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.

MalaCards based summary: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic, also known as epidermal nevus syndrome, is related to cavernous hemangioma and segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, and has symptoms including asymmetric growth, cognitive impairment and abnormal hair quantity. An important gene associated with Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic is NRAS (Neuroblastoma RAS Viral Oncogene Homolog), and among its related pathways are Glioblastoma Multiforme and Thyroid hormone signaling pathway. Affiliated tissues include skin, eye and brain, and related mouse phenotypes are tumorigenesis and limbs/digits/tail.

Genetics Home Reference:23 An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of skin cells. Epidermal nevi are typically seen at birth or develop in early childhood. They can be flat, tan patches of skin or raised, velvety patches. As the affected individual ages, the nevus can become thicker and darker and develop a wart-like (verrucous) appearance. Often, epidermal nevi follow a pattern on the skin known as the lines of Blaschko. The lines of Blaschko, which are invisible on skin, are thought to follow the paths along which cells migrate as the skin develops before birth.

NIH Rare Diseases:45 Linear nevus sebaceous syndrome is a rare condition that affects the eyes, central nervous system, and skin. symptoms may include seizures, intellectual disability, linear sebaceous nevus of jadassohn (a congenital hairless plaque that is usually found on the scalp, face, or neck), hemimegalencephaly (abnormal enlargment of one side of the brain), eye abnormalities, skeletal deformities, heart defects, and an increased risk for cancer. this syndrome is sporadic, meaning that it occurs randomly by chance. last updated: 8/22/2011

OMIM:49 Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous... (163200) more...

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 246)
idRelated DiseaseScoreTop Affiliating Genes
1cavernous hemangioma29.1FGFR3, HRAS, KRAS, NRAS
2segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome12.5
3sickle cell anemia11.8
4linear nevus sebaceus syndrome11.7
5becker nevus syndrome11.5
6acute febrile neutrophilic dermatosis11.3
7mental retardation-hypotonic facies syndrome, x-linked11.3
8mental retardation smith fineman myers type11.3
9hemimegalencephaly10.7
10inflammatory linear verrucous epidermal nevus10.5
11marfan syndrome10.5
12pancreatic cancer10.5
13sjogren's syndrome10.4
14breast cancer10.3
15renal cell carcinoma10.3
16keratosis10.3
17hypoxia10.3
18duchenne muscular dystrophy10.3
19muscular dystrophy10.3
20encephalitis10.2
21lung sarcoma10.2KRAS, NRAS
22melanocytic nevus syndrome, congenital, somatic10.2HRAS, NRAS
23bile duct cystadenocarcinoma10.2KRAS, NRAS
24gastrointestinal carcinoma10.2KRAS, NRAS
25benign mesenchymoma10.2KRAS, NRAS
26asthma10.1
27leukemia10.1
28fibromatosis10.1
29intracystic papillary adenoma10.1HRAS, KRAS
30lacrimal passage granuloma10.1KRAS, NRAS
31apocrine adenocarcinoma10.1HRAS, KRAS
32punctate acrokeratoderma freckle like pigmentation10.1HRAS, KRAS
33cardiofaciocutaneous syndrome 210.1GNL3, KRAS
34ras-associated autoimmune leukoproliferative disorder10.1GNL3, KRAS
35growth restriction, severe, with distinctive facies10.1HRAS, KRAS
36gastric cancer risk after h. pylori infection10.1GNL3, KRAS
37neural tube defects10.1
38hiv-110.1
39hepatocellular carcinoma10.1
40hypochondroplasia10.1
41kawasaki disease10.1
42panic disorder10.1
43gastric ulcer10.1
44cough variant asthma10.1
45agammaglobulinemia10.1
46epidermolysis bullosa10.1
47adenocarcinoma10.1
48gingivitis10.1
49vulvitis10.1
50hyperglycemia10.1

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 for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Symptoms by clinical synopsis from OMIM:

163200

Clinical features from OMIM:

163200

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

(show all 54)
id Description Frequency HPO Source Accession
1 asymmetric growth hallmark (90%) HP:0100555
2 cognitive impairment hallmark (90%) HP:0100543
3 abnormal hair quantity hallmark (90%) HP:0011362
4 adenoma sebaceum hallmark (90%) HP:0009720
5 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
6 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
7 vertebral segmentation defect hallmark (90%) HP:0003422
8 genu recurvatum hallmark (90%) HP:0002816
9 eeg abnormality hallmark (90%) HP:0002353
10 frontal bossing hallmark (90%) HP:0002007
11 hyperreflexia hallmark (90%) HP:0001347
12 reduced tendon reflexes hallmark (90%) HP:0001315
13 muscular hypotonia hallmark (90%) HP:0001252
14 seizures hallmark (90%) HP:0001250
15 cavernous hemangioma hallmark (90%) HP:0001048
16 melanocytic nevus hallmark (90%) HP:0000995
17 iris coloboma hallmark (90%) HP:0000612
18 telecanthus hallmark (90%) HP:0000506
19 narrow forehead hallmark (90%) HP:0000341
20 prominent occiput hallmark (90%) HP:0000269
21 irregular hyperpigmentation typical (50%) HP:0007400
22 porencephaly typical (50%) HP:0002132
23 plagiocephaly typical (50%) HP:0001357
24 facial asymmetry typical (50%) HP:0000324
25 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
26 cerebral calcification occasional (7.5%) HP:0002514
27 dandy-walker malformation occasional (7.5%) HP:0001305
28 corneal opacity rare (5%) HP:0007957
29 hyperphosphaturia rare (5%) HP:0003109
30 precocious puberty rare (5%) HP:0000826
31 ophthalmoplegia rare (5%) HP:0000602
32 abnormality of dental color HP:0011073
33 nevus sebaceous HP:0010815
34 ichthyosis HP:0008064
35 hemimegalencephaly HP:0007206
36 abnormality of dental morphology HP:0006482
37 hypophosphatemic rickets HP:0004912
38 short stature HP:0004322
39 recurrent fractures HP:0002757
40 kyphoscoliosis HP:0002751
41 basal cell carcinoma HP:0002671
42 abnormality of toe HP:0001780
43 coarctation of aorta HP:0001680
44 alopecia HP:0001596
45 overgrowth HP:0001548
46 seizures HP:0001250
47 intellectual disability HP:0001249
48 abnormality of finger HP:0001167
49 hemangioma HP:0001028
50 hypopigmentation of the skin HP:0001010
51 osteopenia HP:0000938
52 coloboma HP:0000589
53 cranial asymmetry HP:0000267
54 horseshoe kidney HP:0000085

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

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FDA approved drugs:

id Drug Name Active Ingredient(s)15 Company Approval Date
1
Elitek15 41 RASBURICASE sanofi-aventis October 2009
FDA Label: Elitek
Disease/s that Drug Treats:management of plasma uric acid levels in adults with malignancies
Indications and Usage:15 Elitek is a recombinant urate-oxidase indicated for initial management ofplasma uric acid levels in pediatric and adult patients with leukemia,lymphoma, and solid tumor malignancies who are receiving anti-cancertherapy expected to result in tumor lysis and subsequent elevation of plasmauric acid (1).Limitation of use: Elitek is indicated only for a single course of treatment (1).
DrugBank Targets:13 1. Uric acid
Mechanism of Action:15 
Target: uric acid
Action: converter to alantoin
FDA: In humans, uric acid is the final step in the catabolic pathway of purines. Rasburicase catalyzesenzymatic oxidation of poorly soluble uric acid into an inactive and more soluble metabolite(allantoin).
2
Provenge15 41 sipuleucel-T Dendreon May 2010
FDA Label: Provenge
Disease/s that Drug Treats:hormone refractory prostate cancer
Indications and Usage:15 PROVENGE is an autologous cellularimmunotherapy indicated for the treatment ofasymptomatic or minimally symptomatic metastaticcastrate resistant (hormone refractory) prostatecancer. (1)
DrugBank Targets: -
Mechanism of Action:15 
Target: PAP
Action: inducer of immune response against this antigen expressed in most prostate cancers
FDA: PROVENGE is classified as an autologous cellular immunotherapy. While the precisemechanism of action is unknown, PROVENGE is designed to induce an immune responsetargeted against PAP, an antigen expressed in most prostate cancers. During ex vivo culturewith PAP-GM-CSF, APCs take up and process the recombinant target antigen into smallpeptides that are then displayed on the APC surface.In Study 1, 237 out of the 512 patients randomized were evaluated for the development ofhumoral and T cell immune responses (proliferative and gamma-interferon (γIFN) ELISPOT)to the target antigens at Baseline, and at Weeks 6, 14, and 26. Antibody (IgM and IgG)responses against PAP-GM-CSF and PAP antigen alone were observed through thefollow-up period in the PROVENGE group. Neutralizing antibody responses to GM-CSFwere transient. T cell proliferative and γIFN ELISPOT responses to PAP-GM-CSF fusionprotein were observed in cells collected from peripheral blood of patients through thefollow-up period in the PROVENGE treatment group but not in controls. In some patients aresponse to PAP antigen alone was observed. No conclusions could be made regarding theclinical significance of the observed immune responses.

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 21386
2ImmunoglobulinsPhase 24477
3Immunoglobulin GPhase 2146
4Antibodies, MonoclonalPhase 22413
5AntibodiesPhase 24477

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of KRN23 in Adult Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)Active, not recruitingNCT02304367Phase 2
2A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus SyndromeNot yet recruitingNCT02722798Phase 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 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic22 NRAS, HRAS, KRAS

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

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

33
Skin, Eye, Brain, Bone, Heart, Tongue, Prostate

Animal Models for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic or affiliated genes

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MGI Mouse Phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7FGFR3, HRAS, KRAS, NRAS
2MP:00053718.7FGF23, FGFR3, KRAS, NRAS
3MP:00030128.6FGFR3, HRAS, KRAS, NRAS
4MP:00053818.5FGF23, FGFR3, KRAS, NRAS
5MP:00053828.5FGFR3, HRAS, KRAS, NRAS
6MP:00053678.4FGF23, FGFR3, HRAS, KRAS
7MP:00107718.1FGF23, FGFR3, HRAS, KRAS, NRAS
8MP:00053887.9FGF23, FGFR3, GNL3, HRAS, KRAS
9MP:00107687.3FGF23, FGFR3, GNL3, HRAS, KRAS, NRAS
10MP:00053787.2FGF23, FGFR3, GNL3, HRAS, KRAS, NRAS

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:

67
id Symbol AA change Variation ID SNP ID
1HRASp.Gly13ArgVAR_068817

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRASNM_033360.3(KRAS): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs121913529GRCh37Chr 12, 25398284: 25398284
2NRASNM_002524.4(NRAS): c.182A> G (p.Gln61Arg)single nucleotide variantPathogenicrs11554290GRCh37Chr 1, 115256529: 115256529
3NM_005343.3(HRAS): c.182A> G (p.Gln61Arg)single nucleotide variantPathogenicrs121913233GRCh38Chr 11, 533874: 533874
4FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
5NM_005343.3(HRAS): c.37G> C (p.Gly13Arg)single nucleotide variantPathogenicrs104894228GRCh37Chr 11, 534286: 534286
6NRASNM_002524.4(NRAS): c.101C> T (p.Pro34Leu)single nucleotide variantPathogenicrs397514553GRCh37Chr 1, 115258681: 115258681

Cosmic variations for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

7 (show top 50)    (show all 102)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM486HRASskin,scalp,other,nevus sebaceous3
2COSM486HRASskin,scalp,other,nevus sebaceous3
3COSM486HRASskin,scalp,other,nevus sebaceous3
4COSM486HRASskin,face,other,nevus sebaceous3
5COSM486HRASskin,scalp,other,nevus sebaceous3
6COSM486HRASskin,face,other,nevus sebaceous3
7COSM486HRASskin,scalp,other,nevus sebaceous3
8COSM486HRASskin,face,other,nevus sebaceous3
9COSM486HRASskin,face,other,nevus sebaceous3
10COSM486HRASskin,scalp,other,nevus sebaceous3
11COSM486HRASskin,neck,other,nevus sebaceous3
12COSM486HRASskin,scalp,other,nevus sebaceous3
13COSM486HRASskin,scalp,other,nevus sebaceous3
14COSM486HRASskin,scalp,other,nevus sebaceous3
15COSM486HRASskin,scalp,other,nevus sebaceous3
16COSM486HRASskin,scalp,other,nevus sebaceous3
17COSM486HRASskin,scalp,other,nevus sebaceous3
18COSM486HRASskin,scalp,other,nevus sebaceous3
19COSM486HRASskin,scalp,other,nevus sebaceous3
20COSM13204HRASskin,scalp,other,nevus sebaceous3
21COSM486HRASskin,scalp,other,nevus sebaceous3
22COSM486HRASskin,neck,other,nevus sebaceous3
23COSM486HRASskin,scalp,other,nevus sebaceous3
24COSM486HRASskin,scalp,other,nevus sebaceous3
25COSM486HRASskin,face,other,nevus sebaceous3
26COSM486HRASskin,face,other,nevus sebaceous3
27COSM486HRASskin,face,other,nevus sebaceous3
28COSM486HRASskin,scalp,other,nevus sebaceous3
29COSM486HRASskin,scalp,other,nevus sebaceous3
30COSM486HRASskin,neck,other,nevus sebaceous3
31COSM486HRASskin,face,other,nevus sebaceous3
32COSM486HRASskin,scalp,other,nevus sebaceous3
33COSM486HRASskin,face,other,nevus sebaceous3
34COSM486HRASskin,face,other,nevus sebaceous3
35COSM486HRASskin,scalp,other,nevus sebaceous3
36COSM486HRASskin,scalp,other,nevus sebaceous3
37COSM481HRASskin,face,other,nevus sebaceous3
38COSM480HRASskin,scalp,other,nevus sebaceous3
39COSM484HRASskin,scalp,other,nevus sebaceous3
40COSM486HRASskin,scalp,other,nevus sebaceous3
41COSM486HRASskin,face,other,nevus sebaceous3
42COSM486HRASskin,face,other,nevus sebaceous3
43COSM486HRASskin,scalp,other,nevus sebaceous3
44COSM486HRASskin,face,other,nevus sebaceous3
45COSM486HRASskin,scalp,other,nevus sebaceous3
46COSM486HRASskin,scalp,other,nevus sebaceous3
47COSM486HRASskin,scalp,other,nevus sebaceous3
48COSM486HRASskin,face,other,nevus sebaceous3
49COSM486HRASskin,scalp,other,nevus sebaceous3
50COSM486HRASskin,scalp,other,nevus sebaceous3

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 91)
idSuper pathwaysScoreTop Affiliating Genes
19.1HRAS, KRAS, NRAS
29.1HRAS, KRAS, NRAS
3
Show member pathways
9.1HRAS, KRAS, NRAS
4
Show member pathways
9.1HRAS, KRAS, NRAS
59.1HRAS, KRAS, NRAS
69.1HRAS, KRAS, NRAS
7
Show member pathways
9.1HRAS, KRAS, NRAS
8
Show member pathways
9.1HRAS, KRAS, NRAS
99.1HRAS, KRAS, NRAS
10
Show member pathways
9.1HRAS, KRAS, NRAS
119.1HRAS, KRAS, NRAS
12
Show member pathways
9.1HRAS, KRAS, NRAS
13
Show member pathways
9.1HRAS, KRAS, NRAS
149.1HRAS, KRAS, NRAS
159.1HRAS, KRAS, NRAS
16
Show member pathways
9.1HRAS, KRAS, NRAS
17
Show member pathways
9.1HRAS, KRAS, NRAS
18
Show member pathways
9.1HRAS, KRAS, NRAS
199.1HRAS, KRAS, NRAS
209.1HRAS, KRAS, NRAS
219.1HRAS, KRAS, NRAS
229.1HRAS, KRAS, NRAS
239.1HRAS, KRAS, NRAS
249.1HRAS, KRAS, NRAS
25
Show member pathways
9.1HRAS, KRAS, NRAS
269.1HRAS, KRAS, NRAS
27
Show member pathways
8.6FGF23, HRAS, KRAS, NRAS
28
Show member pathways
8.6FGF23, HRAS, KRAS, NRAS
298.3FGFR3, HRAS, KRAS, NRAS
30
Show member pathways
8.3FGFR3, HRAS, KRAS, NRAS
318.3FGFR3, HRAS, KRAS, NRAS
328.3FGFR3, HRAS, KRAS, NRAS
338.3FGFR3, HRAS, KRAS, NRAS
348.3FGFR3, HRAS, KRAS, NRAS
35
Show member pathways
8.3FGFR3, HRAS, KRAS, NRAS
367.7FGF23, FGFR3, HRAS, KRAS, NRAS
37
Show member pathways
7.7FGF23, FGFR3, HRAS, KRAS, NRAS
38
Show member pathways
7.7FGF23, FGFR3, HRAS, KRAS, NRAS
39
Show member pathways
7.7FGF23, FGFR3, HRAS, KRAS, NRAS
407.7FGF23, FGFR3, HRAS, KRAS, NRAS
41
Show member pathways
7.7FGF23, FGFR3, HRAS, KRAS, NRAS
42
Show member pathways
7.7FGF23, FGFR3, HRAS, KRAS, NRAS
43
Show member pathways
7.7FGF23, FGFR3, HRAS, KRAS, NRAS
44
Show member pathways
7.7FGF23, FGFR3, HRAS, KRAS, NRAS
45
Show member pathways
7.7FGF23, FGFR3, HRAS, KRAS, NRAS
46
Show member pathways
7.7FGF23, FGFR3, HRAS, KRAS, NRAS
477.7FGF23, FGFR3, HRAS, KRAS, NRAS
48
Show member pathways
7.7FGF23, FGFR3, HRAS, KRAS, NRAS
49
Show member pathways
7.7FGF23, FGFR3, HRAS, KRAS, NRAS
50
Show member pathways
7.7FGF23, FGFR3, HRAS, 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 18)
idNameGO IDScoreTop Affiliating Genes
1regulation of phosphatidylinositol 3-kinase signalingGO:00140669.7FGF23, FGFR3
2phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.7FGF23, FGFR3
3positive regulation of MAPK cascadeGO:00434109.6FGFR3, HRAS
4stimulatory C-type lectin receptor signaling pathwayGO:00022239.6HRAS, KRAS, NRAS
5ERBB2 signaling pathwayGO:00381289.6HRAS, KRAS, NRAS
6positive regulation of ERK1 and ERK2 cascadeGO:00703749.5FGFR3, HRAS
7regulation of long-term neuronal synaptic plasticityGO:00481699.4HRAS, KRAS
8leukocyte migrationGO:00509009.2HRAS, KRAS, NRAS
9social behaviorGO:00351769.2HRAS, KRAS
10activation of MAPKK activityGO:00001868.9FGF23, HRAS, KRAS, NRAS
11epidermal growth factor receptor signaling pathwayGO:00071738.6FGF23, FGFR3, HRAS, KRAS
12MAPK cascadeGO:00001658.6FGFR3, HRAS, KRAS, NRAS
13axon guidanceGO:00074118.2FGF23, FGFR3, HRAS, KRAS
14fibroblast growth factor receptor signaling pathwayGO:00085438.2FGF23, FGFR3, HRAS, KRAS, NRAS
15vascular endothelial growth factor receptor signaling pathwayGO:00480108.1FGF23, FGFR3, HRAS, KRAS, NRAS
16insulin receptor signaling pathwayGO:00082868.0FGF23, FGFR3, HRAS, KRAS, NRAS
17neurotrophin TRK receptor signaling pathwayGO:00480117.7FGF23, FGFR3, HRAS, KRAS, NRAS
18innate immune responseGO:00450877.7FGF23, FGFR3, HRAS, KRAS, NRAS

Sources for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet