MCID: SCH063
MIFTS: 55

Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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

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

MalaCards integrated aliases for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

Name: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 54 24
Epidermal Nevus Syndrome 24 56 71 29 52
Jadassohn Nevus Phakomatosis 50 24 71
Nevus Sebaceus of Jadassohn 50 56 71
Organoid Nevus Phakomatosis 50 71 69
Sfm Syndrome 50 24 71
Linear Sebaceous Nevus Syndrome 24 71
Schimmelpenning Syndrome 56 71
Solomon Syndrome 56 71
Jnp 50 71
Schimmelpenning Feuerstein Mims Syndrome 50
Schimmelpenning-Feuerstein-Mims Syndrome 71
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 71
Ss 71

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;

OMIM:

54
Inheritance:
somatic mosaicism

Miscellaneous:
onset of skin lesions at birth
extracutaneous manifestations are variable
secondary tumors develop within the skin lesions


HPO:

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


Classifications:



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 epidermal nevus, somatic and segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, and has symptoms including visual impairment, hyperreflexia and seizures. An important gene associated with Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include bone, eye and brain, and related phenotypes are Decreased viability and growth/size/body region

OMIM : 54
Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001). (163200)

UniProtKB/Swiss-Prot : 71 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 191)
id Related Disease Score Top Affiliating Genes
1 epidermal nevus, somatic 30.7 FGFR3 HRAS NRAS
2 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.0
3 mental retardation smith fineman myers type 11.6
4 sickle cell anemia 11.5
5 inflammatory linear verrucous epidermal nevus 11.3
6 sjogren's syndrome 11.1
7 didymosis aplasticosebacea 11.0
8 becker nevus syndrome 11.0
9 serotonin syndrome 10.8
10 mental retardation-hypotonic facies syndrome, x-linked 10.8
11 neutrophilic dermatosis, acute febrile 10.8
12 hemoglobin se disease 10.8
13 syringocystadenoma papilliferum 10.4
14 chronic polyneuropathy 10.4 HRAS NRAS
15 fibrous meningioma 10.4 HRAS NRAS
16 sublingual gland adenoid cystic carcinoma 10.3 HRAS NRAS
17 coloboma of macula and skeletal anomalies 10.3 HRAS NRAS
18 demyelinating polyneuropathy 10.3 HRAS NRAS
19 vulval paget's disease 10.3 HRAS NRAS
20 melanocytic nevus syndrome, congenital, somatic 10.3 HRAS NRAS
21 olfactory neural tumor 10.3 HRAS NRAS
22 nephrolithiasis 10.3 HRAS NRAS
23 vaginal yolk sac tumor 10.3 HRAS NRAS
24 malignant skin fibrous histiocytoma 10.3 HRAS KRAS
25 limb ischemia 10.3 HRAS KRAS
26 hydrarthrosis 10.3 HRAS NRAS
27 severe pre-eclampsia 10.3 HRAS KRAS
28 bone marrow cancer 10.3 HRAS NRAS
29 gastric papillary adenocarcinoma 10.2 HRAS KRAS
30 adenocarcinoma in situ 10.2 HRAS KRAS
31 seminal vesicle chronic gonorrhea 10.2 HRAS KRAS
32 breast adenoid cystic carcinoma 10.2 HRAS KRAS
33 spindle epithelial tumor with thymus-like differentiation tumor 10.2 HRAS KRAS
34 tabes dorsalis 10.2 HRAS KRAS
35 rheumatic pulmonary valve disease 10.2 HRAS KRAS
36 appendix adenocarcinoma 10.2 HRAS KRAS
37 lupus erythematosus 10.2
38 phacomatosis pigmentokeratotica 10.2
39 diffuse pulmonary fibrosis 10.2 HRAS KRAS
40 uterine corpus adenofibroma 10.2 HRAS KRAS
41 extramedullary plasmacytoma 10.2 HRAS KRAS
42 acinar cell cystadenocarcinoma 10.2 HRAS KRAS
43 radioulnar synostosis 10.2 HRAS KRAS
44 migraine with aura 10.2 HRAS KRAS
45 hypersensitivity reaction type iii disease 10.2 HRAS KRAS
46 advanced sleep phase syndrome 10.2 HRAS KRAS
47 heavy chain disease 10.2 HRAS NRAS
48 adenoma 10.2
49 anuria 10.2 HRAS KRAS
50 growth restriction, severe, with distinctive facies 10.1 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 via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Growth- Other:
growth retardation
asymmetric overgrowth

Neoplasia:
basal cell carcinoma
syringocystadenoma papilliferum
central giant cell granuloma
trichoblastoma

Head And Neck- Eyes:
lid lipodermoid
coloboma of eyelids, iris, and choroid
ophthalmoplegia (in some)
corneal clouding (in some)

Cardiovascular- Vascular:
coarctation of aorta

Skeletal:
osteopenia
recurrent fractures
bone deformities

Skeletal- Feet:
toe abnormalities

Skin Nails & Hair- Hair:
alopecia within lesion

Laboratory- Abnormalities:
phosphaturia (in some)
phosphaturia may disappear after a long period of time

Neurologic- Central Nervous System:
mental retardation
seizures
neurologic abnormalities in about 7%
hemimegalencephaly

Skeletal- Spine:
kyphoscoliosis

Head And Neck- Head:
cranial asymmetry

Head And Neck- Teeth:
pigmented, malformed teeth

Genitourinary- Kidneys:
horseshoe kidney

Skeletal- Hands:
finger abnormalities

Skin Nails & Hair- Skin:
linear nevus sebaceous, often in midfacial area
lesions follow the lines of blaschko
ichthyosis hystrix
nevus unius lateris
hemangioma
more
Endocrine Features:
hypophosphatemic vitamin d-resistant rickets (in some)
precocious puberty (less common)


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 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
2 hyperreflexia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001347
3 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 alopecia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001596
5 microphthalmia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000568
6 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
7 global developmental delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001263
8 iris coloboma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000612
9 telecanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000506
10 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
11 areflexia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001284
12 osteopenia 56 32 very rare (1%) Very rare (<4-1%) HP:0000938
13 dandy-walker malformation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001305
14 spinal cord compression 56 32 frequent (33%) Frequent (79-30%) HP:0002176
15 astigmatism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000483
16 plagiocephaly 56 32 frequent (33%) Frequent (79-30%) HP:0001357
17 prominent occiput 56 32 hallmark (90%) Very frequent (99-80%) HP:0000269
18 facial asymmetry 56 32 frequent (33%) Frequent (79-30%) HP:0000324
19 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
20 rhabdomyosarcoma 56 32 very rare (1%) Very rare (<4-1%) HP:0002859
21 babinski sign 56 32 occasional (7.5%) Occasional (29-5%) HP:0003487
22 thoracolumbar scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002944
23 cerebral calcification 56 32 occasional (7.5%) Occasional (29-5%) HP:0002514
24 vitamin d deficiency 56 32 very rare (1%) Very rare (<4-1%) HP:0100512
25 spinal canal stenosis 56 32 frequent (33%) Frequent (79-30%) HP:0003416
26 genu recurvatum 56 32 hallmark (90%) Very frequent (99-80%) HP:0002816
27 porencephaly 56 32 frequent (33%) Frequent (79-30%) HP:0002132
28 cavernous hemangioma 56 32 hallmark (90%) Very frequent (99-80%) HP:0001048
29 delayed speech and language development 56 32 occasional (7.5%) Occasional (29-5%) HP:0000750
30 growth delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0001510
31 lipoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0012032
32 biparietal narrowing 56 32 hallmark (90%) Very frequent (99-80%) HP:0004422
33 pain 56 32 frequent (33%) Frequent (79-30%) HP:0012531
34 polycystic kidney dysplasia 56 32 very rare (1%) Very rare (<4-1%) HP:0000113
35 irregular hyperpigmentation 56 32 frequent (33%) Frequent (79-30%) HP:0007400
36 eeg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0002353
37 abnormal facial shape 56 32 very rare (1%) Very rare (<4-1%) HP:0001999
38 abnormality of vision 56 32 frequent (33%) Frequent (79-30%) HP:0000504
39 melanocytic nevus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000995
40 nevus 56 32 hallmark (90%) Very frequent (99-80%) HP:0003764
41 reduced tendon reflexes 56 32 hallmark (90%) Very frequent (99-80%) HP:0001315
42 aplasia/hypoplasia of the cerebellum 56 32 hallmark (90%) Very frequent (99-80%) HP:0007360
43 vertebral segmentation defect 56 32 hallmark (90%) Very frequent (99-80%) HP:0003422
44 adenoma sebaceum 56 32 hallmark (90%) Very frequent (99-80%) HP:0009720
45 aplasia/hypoplasia of the corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0007370
46 asymmetric growth 56 32 hallmark (90%) Very frequent (99-80%) HP:0100555
47 spinal cord tumor 56 32 occasional (7.5%) Occasional (29-5%) HP:0010302
48 progressive spastic paraparesis 56 32 frequent (33%) Frequent (79-30%) HP:0007199
49 hyperpigmentation of the skin 56 32 frequent (33%) Frequent (79-30%) HP:0000953
50 hypopigmentation of the skin 56 32 frequent (33%) Frequent (79-30%) HP:0001010

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 HRAS KRAS
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 FGFR3 KRAS NRAS
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 growth/size/body region MP:0005378 9.8 FGF23 FGFR3 HRAS KRAS NRAS
2 integument MP:0010771 9.77 FGF23 FGFR3 HRAS KRAS NRAS
3 craniofacial MP:0005382 9.76 FGFR3 HRAS KRAS NRAS
4 digestive/alimentary MP:0005381 9.73 FGF23 FGFR3 KRAS NRAS
5 limbs/digits/tail MP:0005371 9.62 FGF23 FGFR3 KRAS NRAS
6 neoplasm MP:0002006 9.56 FGFR3 HRAS KRAS NRAS
7 no phenotypic analysis MP:0003012 9.46 FGFR3 HRAS KRAS NRAS
8 renal/urinary system MP:0005367 9.26 FGF23 FGFR3 HRAS KRAS
9 respiratory system MP:0005388 8.92 FGF23 FGFR3 HRAS KRAS

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

Search Clinical Trials , 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, Skin, Tongue, 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:

71
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 121)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 FGF23 FGFR3 HRAS KRAS NRAS
2
Show member pathways
13.65 FGF23 FGFR3 HRAS KRAS NRAS
3
Show member pathways
13.65 FGF23 FGFR3 HRAS KRAS NRAS
4
Show member pathways
13.54 FGF23 FGFR3 HRAS KRAS NRAS
5
Show member pathways
13.54 FGF23 FGFR3 HRAS KRAS NRAS
6
Show member pathways
13.39 FGF23 FGFR3 HRAS KRAS NRAS
7
Show member pathways
13.37 FGF23 FGFR3 HRAS KRAS NRAS
8
Show member pathways
13.33 FGF23 FGFR3 HRAS KRAS NRAS
9
Show member pathways
13.28 FGF23 FGFR3 HRAS KRAS NRAS
10
Show member pathways
13.24 FGF23 FGFR3 HRAS KRAS NRAS
11
Show member pathways
13.2 FGF23 FGFR3 HRAS KRAS NRAS
12
Show member pathways
13.16 FGF23 FGFR3 HRAS KRAS NRAS
13
Show member pathways
13.14 FGF23 FGFR3 HRAS KRAS NRAS
14
Show member pathways
13.12 FGF23 FGFR3 HRAS KRAS NRAS
15
Show member pathways
12.93 FGF23 FGFR3 HRAS KRAS NRAS
16
Show member pathways
12.91 FGF23 FGFR3 HRAS KRAS NRAS
17
Show member pathways
12.77 FGFR3 HRAS KRAS NRAS
18
Show member pathways
12.75 HRAS KRAS NRAS
19
Show member pathways
12.74 HRAS KRAS NRAS
20
Show member pathways
12.74 HRAS KRAS NRAS
21
Show member pathways
12.73 HRAS KRAS NRAS
22
Show member pathways
12.73 HRAS KRAS NRAS
23
Show member pathways
12.72 HRAS KRAS NRAS
24
Show member pathways
12.7 FGF23 FGFR3 HRAS KRAS NRAS
25
Show member pathways
12.69 HRAS KRAS NRAS
26
Show member pathways
12.67 HRAS KRAS NRAS
27
Show member pathways
12.66 HRAS KRAS NRAS
28
Show member pathways
12.66 HRAS KRAS NRAS
29
Show member pathways
12.64 HRAS KRAS NRAS
30
Show member pathways
12.63 HRAS KRAS NRAS
31
Show member pathways
12.57 FGF23 FGFR3 HRAS KRAS NRAS
32
Show member pathways
12.56 HRAS KRAS NRAS
33
Show member pathways
12.56 FGF23 FGFR3 HRAS KRAS NRAS
34
Show member pathways
12.55 HRAS KRAS NRAS
35 12.54 FGF23 FGFR3 HRAS KRAS NRAS
36 12.54 FGF23 FGFR3 HRAS KRAS NRAS
37
Show member pathways
12.49 HRAS KRAS NRAS
38
Show member pathways
12.49 HRAS KRAS NRAS
39 12.47 FGF23 FGFR3 HRAS KRAS NRAS
40
Show member pathways
12.44 HRAS KRAS NRAS
41 12.44 FGFR3 HRAS KRAS NRAS
42
Show member pathways
12.43 HRAS KRAS NRAS
43
Show member pathways
12.42 FGFR3 HRAS KRAS NRAS
44
Show member pathways
12.41 HRAS KRAS NRAS
45
Show member pathways
12.4 FGF23 FGFR3 HRAS KRAS NRAS
46 12.39 FGF23 FGFR3 HRAS KRAS NRAS
47
Show member pathways
12.36 HRAS KRAS NRAS
48
Show member pathways
12.36 HRAS KRAS NRAS
49 12.36 HRAS KRAS NRAS
50
Show member pathways
12.36 FGFR3 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 17)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.71 FGFR3 HRAS KRAS
2 leukocyte migration GO:0050900 9.67 HRAS KRAS NRAS
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.63 FGF23 FGFR3 HRAS
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 9.57 FGFR3 HRAS
7 fibroblast growth factor receptor signaling pathway GO:0008543 9.56 FGF23 FGFR3
8 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.55 FGF23 FGFR3
9 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.54 HRAS KRAS NRAS
10 positive regulation of MAP kinase activity GO:0043406 9.52 HRAS KRAS
11 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.51 FGF23 FGFR3
12 regulation of long-term neuronal synaptic plasticity GO:0048169 9.48 HRAS KRAS
13 Ras protein signal transduction GO:0007265 9.43 HRAS KRAS NRAS
14 epidermal growth factor receptor signaling pathway GO:0007173 9.33 HRAS KRAS NRAS
15 response to isolation stress GO:0035900 9.32 HRAS KRAS
16 ERBB2 signaling pathway GO:0038128 9.13 HRAS KRAS NRAS
17 MAPK cascade GO:0000165 9.02 FGF23 FGFR3 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 9.43 HRAS KRAS NRAS
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.37 FGF23 FGFR3
3 GDP binding GO:0019003 9.32 HRAS KRAS
4 1-phosphatidylinositol-3-kinase activity GO:0016303 9.16 FGF23 FGFR3
5 GTPase activity GO:0003924 9.13 HRAS KRAS NRAS
6 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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