SFM
MCID: SCH063
MIFTS: 53

Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic (SFM) malady

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

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

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

Name: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 54 24
Epidermal Nevus Syndrome 24 56 66 29
Jadassohn Nevus Phakomatosis 50 24 66
Nevus Sebaceus of Jadassohn 50 56 66
Organoid Nevus Phakomatosis 50 66 69
Sfm Syndrome 50 24 66
Schimmelpenning-Feuerstein-Mims Syndrome 54 66
Linear Sebaceous Nevus Syndrome 24 66
Schimmelpenning Syndrome 56 66
Solomon Syndrome 56 66
Jnp 50 66
Schimmelpenning Feuerstein Mims Syndrome 50
Linear Nevus Sebaceous Syndrome 50
Sebaceous Nevus Syndrome Linear 50
Linear Nevus Sebaceus Syndrome 56
Nevus, Sebaceous of Jadassohn 42
Epidermal Hamartoma Syndrome 56
Nevus Sebaceus Syndrome 56
Organoid Nevus Syndrome 56
Nevus Sebaceous 69
Sfm 66
Ss 66

Characteristics:

Orphanet epidemiological data:

56
linear nevus sebaceus syndrome
Inheritance: Not applicable; Age of onset: Childhood; Age of death: any age;
epidermal nevus syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

HPO:

32
schimmelpenning-feuerstein-mims syndrome, somatic mosaic:
Inheritance somatic mosaicism sporadic


Classifications:



External Ids:

OMIM 54 163200
ICD10 via Orphanet 34 Q85.8
MESH via Orphanet 43 C536114 D054000
UMLS via Orphanet 70 C0334082
MedGen 40 C0265318
MeSH 42 D054000

Summaries for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

NIH Rare Diseases : 50 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 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome and sickle cell anemia, and has symptoms including seizures, frontal bossing and osteopenia. An important gene associated with Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways/superpathways are GPCR Pathway and HIV Life Cycle. The drugs Antibodies and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and brain, and related phenotypes are Decreased viability and craniofacial

OMIM : 54 Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous... (163200) more...

UniProtKB/Swiss-Prot : 66 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

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

(show top 50) (show all 183)
id Related Disease Score Top Affiliating Genes
1 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.0
2 sickle cell anemia 11.5
3 epidermal nevus, somatic 11.2
4 sjogren's syndrome 11.1
5 didymosis aplasticosebacea 11.0
6 serotonin syndrome 10.8
7 neutrophilic dermatosis, acute febrile 10.8
8 mental retardation-hypotonic facies syndrome, x-linked 10.8
9 mental retardation smith fineman myers type 10.8
10 syringocystadenoma papilliferum 10.4
11 phacomatosis pigmentokeratotica 10.3
12 lupus erythematosus 10.2
13 adenoma 10.2
14 acute hemorrhagic encephalitis 10.1 HRAS NRAS
15 parotid gland adenoid cystic carcinoma 10.1 HRAS NRAS
16 tubulointerstitial nephritis with uveitis 10.1 HRAS NRAS
17 infertility 10.1 HRAS NRAS
18 vulval paget's disease 10.1 HRAS NRAS
19 nephrolithiasis 10.1 HRAS NRAS
20 gallbladder pleomorphic giant cell adenocarcinoma 10.1 HRAS NRAS
21 adult epithelioid sarcoma 10.1 HRAS NRAS
22 neurocutaneous melanosis, somatic 10.1 HRAS NRAS
23 vaginal yolk sac tumor 10.1 HRAS NRAS
24 retroperitoneal leiomyosarcoma 10.1 HRAS NRAS
25 nelson syndrome 10.0 HRAS NRAS
26 cutaneous lupus erythematosus 10.0
27 systemic lupus erythematosus 10.0
28 malignant skin fibrous histiocytoma 10.0 HRAS KRAS
29 rickets 10.0
30 hemimegalencephaly 10.0
31 megalencephaly 10.0
32 chronic venous insufficiency 10.0 HRAS KRAS
33 severe pre-eclampsia 10.0 HRAS KRAS
34 squamous cell carcinoma 10.0
35 nodular hidradenoma 10.0
36 spiradenoma 10.0
37 epidermodysplasia verruciformis 10.0
38 basal cell carcinoma 10.0
39 ceruminoma 10.0
40 mucositis 10.0
41 apocrine adenoma 10.0
42 hidradenoma 10.0
43 mucoepidermoid carcinoma 10.0
44 bile duct disease 10.0 HRAS KRAS
45 postpoliomyelitis syndrome 10.0 HRAS KRAS
46 precursor t-lymphoblastic lymphoma/leukemia 10.0 HRAS KRAS
47 syndactyly-polydactyly-earlobe syndrome 10.0 HRAS KRAS
48 gonococcal seminal vesiculitis 10.0 HRAS KRAS
49 pelvic inflammatory disease 10.0 HRAS KRAS
50 kidney clear cell sarcoma 10.0 HRAS KRAS

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

Symptoms by clinical synopsis from OMIM:

163200

Clinical features from OMIM:

163200

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

56 32 (show top 50) (show all 78)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Very frequent (99-80%) HP:0001250
2 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
3 osteopenia 56 32 Very rare (<4-1%) HP:0000938
4 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
5 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
6 hyperreflexia 56 32 Very frequent (99-80%) HP:0001347
7 eeg abnormality 56 32 Very frequent (99-80%) HP:0002353
8 cerebral calcification 56 32 Occasional (29-5%) HP:0002514
9 abnormality of vision 56 32 Frequent (79-30%) HP:0000504
10 cavernous hemangioma 56 32 Very frequent (99-80%) HP:0001048
11 genu recurvatum 56 32 Very frequent (99-80%) HP:0002816
12 biparietal narrowing 56 32 Very frequent (99-80%) HP:0004422
13 prominent occiput 56 32 Very frequent (99-80%) HP:0000269
14 growth delay 56 32 Occasional (29-5%) HP:0001510
15 melanocytic nevus 56 32 Very frequent (99-80%) HP:0000995
16 reduced tendon reflexes 56 32 Very frequent (99-80%) HP:0001315
17 aplasia/hypoplasia of the cerebellum 56 32 Very frequent (99-80%) HP:0007360
18 telecanthus 56 32 Very frequent (99-80%) HP:0000506
19 microphthalmia 56 32 Very frequent (99-80%) HP:0000568
20 irregular hyperpigmentation 56 32 Frequent (79-30%) HP:0007400
21 alopecia 56 32 Very frequent (99-80%) HP:0001596
22 vertebral segmentation defect 56 32 Very frequent (99-80%) HP:0003422
23 iris coloboma 56 32 Very frequent (99-80%) HP:0000612
24 facial asymmetry 56 32 Frequent (79-30%) HP:0000324
25 plagiocephaly 56 32 Frequent (79-30%) HP:0001357
26 adenoma sebaceum 56 32 Very frequent (99-80%) HP:0009720
27 aplasia/hypoplasia of the corpus callosum 56 32 Occasional (29-5%) HP:0007370
28 dandy-walker malformation 56 32 Occasional (29-5%) HP:0001305
29 asymmetric growth 56 32 Very frequent (99-80%) HP:0100555
30 porencephaly 56 32 Frequent (79-30%) HP:0002132
31 hypopigmentation of the skin 56 32 Frequent (79-30%) HP:0001010
32 pain 56 Frequent (79-30%)
33 ophthalmoplegia 32 HP:0000602
34 precocious puberty 32 HP:0000826
35 global developmental delay 56 Occasional (29-5%)
36 corneal opacity 32 HP:0007957
37 delayed speech and language development 56 Occasional (29-5%)
38 abnormal facial shape 56 Very rare (<4-1%)
39 visual impairment 56 Occasional (29-5%)
40 short stature 32 HP:0004322
41 ichthyosis 32 HP:0008064
42 hypertonia 56 Occasional (29-5%)
43 abnormality of the eye 56 Frequent (79-30%)
44 horseshoe kidney 32 HP:0000085
45 coarctation of aorta 32 HP:0001680
46 nevus 56 Very frequent (99-80%)
47 babinski sign 56 Occasional (29-5%)
48 ventriculomegaly 56 Very frequent (99-80%)
49 polycystic kidney dysplasia 56 Very rare (<4-1%)
50 areflexia 56 Occasional (29-5%)

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.22 KRAS HRAS
2 Decreased viability GR00106-A-0 10.22 KRAS
3 Decreased viability GR00221-A-1 10.22 NRAS FGFR3 HRAS KRAS
4 Decreased viability GR00221-A-2 10.22 FGFR3 HRAS KRAS
5 Decreased viability GR00221-A-3 10.22 NRAS FGFR3 HRAS
6 Decreased viability GR00301-A 10.22 KRAS
7 Decreased viability GR00381-A-1 10.22 KRAS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.68 KRAS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.68 FGFR3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.68 NRAS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.68 KRAS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.68 FGFR3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.68 NRAS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.68 NRAS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.68 KRAS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.68 KRAS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.68 KRAS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.68 NRAS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.68 KRAS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.68 KRAS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.68 NRAS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.68 KRAS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.68 KRAS
24 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.68 FGFR3
25 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.68 NRAS
26 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.68 NRAS FGFR3 KRAS
27 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.68 FGFR3
28 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.68 KRAS
29 Decreased cell migration GR00055-A-1 9.43 FGFR3 HRAS KRAS
30 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.33 FGFR3 HRAS NRAS

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.62 FGFR3 HRAS KRAS NRAS
2 integument MP:0010771 9.56 FGFR3 HRAS KRAS NRAS
3 neoplasm MP:0002006 9.46 FGFR3 HRAS KRAS NRAS
4 no phenotypic analysis MP:0003012 9.26 NRAS FGFR3 HRAS KRAS
5 normal MP:0002873 8.92 FGFR3 HRAS KRAS NRAS

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

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 2
2 Antibodies, Monoclonal Phase 2
3 Immunoglobulin G Phase 2
4 Immunoglobulins Phase 2
5 Mitogens Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome Active, not recruiting NCT02722798 Phase 2
2 Study of KRN23 in Adult Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS) Active, not recruiting NCT02304367 Phase 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

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

id Genetic test Affiliating Genes
1 Epidermal Nevus Syndrome 29
2 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 24 NRAS HRAS KRAS

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

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

39
Bone, Eye, Brain, Heart, Tongue, Skin, Spinal Cord

Publications for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

Variations for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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

66
id Symbol AA change Variation ID SNP ID
1 HRAS p.Gly13Arg VAR_068817 rs104894228

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

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
2 HRAS NM_005343.3(HRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
3 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
4 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
5 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic/Likely pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
6 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
7 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
8 FGFR3 NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913479 GRCh37 Chromosome 4, 1806089: 1806089
9 HRAS NM_005343.3(HRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh37 Chromosome 11, 534286: 534286
10 NRAS NM_002524.4(NRAS): c.101C> T (p.Pro34Leu) single nucleotide variant Pathogenic rs397514553 GRCh37 Chromosome 1, 115258681: 115258681
11 NRAS NM_002524.4(NRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913237 GRCh37 Chromosome 1, 115258747: 115258747

Expression for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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

Pathways for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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

(show top 50) (show all 125)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.47 FGFR3 HRAS KRAS NRAS
2
Show member pathways
13.47 FGFR3 HRAS KRAS NRAS
3
Show member pathways
13.43 FGFR3 HRAS KRAS NRAS
4
Show member pathways
13.34 FGFR3 HRAS KRAS NRAS
5
Show member pathways
13.32 FGFR3 HRAS KRAS NRAS
6
Show member pathways
13.29 FGFR3 HRAS KRAS NRAS
7
Show member pathways
13.26 FGFR3 HRAS KRAS NRAS
8
Show member pathways
13.22 FGFR3 HRAS KRAS NRAS
9
Show member pathways
13.18 FGFR3 HRAS KRAS NRAS
10
Show member pathways
13.15 FGFR3 HRAS KRAS NRAS
11
Show member pathways
13.13 FGFR3 HRAS KRAS NRAS
12
Show member pathways
13.12 FGFR3 HRAS KRAS NRAS
13
Show member pathways
12.93 FGFR3 HRAS KRAS NRAS
14
Show member pathways
12.92 FGFR3 HRAS KRAS NRAS
15
Show member pathways
12.89 FGFR3 HRAS KRAS NRAS
16
Show member pathways
12.82 HRAS KRAS NRAS
17
Show member pathways
12.76 HRAS KRAS NRAS
18
Show member pathways
12.75 HRAS KRAS NRAS
19
Show member pathways
12.75 HRAS KRAS NRAS
20
Show member pathways
12.74 HRAS KRAS NRAS
21
Show member pathways
12.74 HRAS KRAS NRAS
22
Show member pathways
12.74 HRAS KRAS NRAS
23
Show member pathways
12.73 HRAS KRAS NRAS
24
Show member pathways
12.73 HRAS KRAS NRAS
25
Show member pathways
12.73 HRAS KRAS NRAS
26
Show member pathways
12.72 HRAS KRAS NRAS
27
Show member pathways
12.72 FGFR3 HRAS KRAS NRAS
28
Show member pathways
12.71 FGFR3 HRAS KRAS NRAS
29
Show member pathways
12.68 HRAS KRAS NRAS
30
Show member pathways
12.67 HRAS KRAS NRAS
31
Show member pathways
12.66 HRAS KRAS NRAS
32
Show member pathways
12.65 HRAS KRAS NRAS
33
Show member pathways
12.65 HRAS KRAS NRAS
34
Show member pathways
12.63 HRAS KRAS NRAS
35
Show member pathways
12.6 FGFR3 HRAS KRAS NRAS
36
Show member pathways
12.6 FGFR3 HRAS KRAS NRAS
37 12.58 FGFR3 HRAS KRAS NRAS
38
Show member pathways
12.55 HRAS KRAS NRAS
39
Show member pathways
12.55 HRAS KRAS NRAS
40 12.54 FGFR3 HRAS KRAS NRAS
41
Show member pathways
12.49 HRAS KRAS NRAS
42 12.49 FGFR3 HRAS KRAS NRAS
43
Show member pathways
12.48 HRAS KRAS NRAS
44
Show member pathways
12.45 HRAS KRAS NRAS
45 12.45 FGFR3 HRAS KRAS NRAS
46
Show member pathways
12.44 FGFR3 HRAS KRAS NRAS
47
Show member pathways
12.43 HRAS KRAS NRAS
48
Show member pathways
12.4 HRAS KRAS NRAS
49 12.37 FGFR3 HRAS KRAS NRAS
50
Show member pathways
12.36 HRAS KRAS NRAS

GO Terms for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.7 FGFR3 HRAS KRAS
2 small GTPase mediated signal transduction GO:0007264 9.67 HRAS KRAS NRAS
3 leukocyte migration GO:0050900 9.63 HRAS KRAS NRAS
4 axon guidance GO:0007411 9.61 HRAS KRAS NRAS
5 Fc-epsilon receptor signaling pathway GO:0038095 9.58 HRAS KRAS NRAS
6 positive regulation of MAPK cascade GO:0043410 9.54 FGFR3 HRAS
7 positive regulation of MAP kinase activity GO:0043406 9.51 HRAS KRAS
8 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.5 HRAS KRAS NRAS
9 regulation of long-term neuronal synaptic plasticity GO:0048169 9.48 HRAS KRAS
10 Ras protein signal transduction GO:0007265 9.43 HRAS KRAS NRAS
11 response to isolation stress GO:0035900 9.37 HRAS KRAS
12 epidermal growth factor receptor signaling pathway GO:0007173 9.33 HRAS KRAS NRAS
13 MAPK cascade GO:0000165 9.26 FGFR3 HRAS KRAS NRAS
14 ERBB2 signaling pathway GO:0038128 8.8 HRAS KRAS NRAS

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

id Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.33 HRAS KRAS NRAS
2 GDP binding GO:0019003 9.26 HRAS KRAS
3 GTPase activity GO:0003924 9.13 HRAS KRAS NRAS
4 nucleotide binding GO:0000166 8.92 FGFR3 HRAS KRAS NRAS

Sources for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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