MCID: SCH063
MIFTS: 51

Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases categories

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, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all 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 65 67
Sebaceous Nevus Syndrome Linear 45 22
Nevus Sebaceus of Jadassohn 45 67
Epidermal Nevus 23 24
Sfm Syndrome 45 67
Jnp 45 67
Schimmelpenning Feuerstein Mims Syndrome 45
Schimmelpenning-Feuerstein-Mims Syndrome 67
 
Linear Nevus Sebaceous Syndrome 45
Linear Sebaceous Nevus Syndrome 67
Nevus, Sebaceous of Jadassohn 65
Epidermal Hamartoma Syndrome 51
Schimmelpenning Syndrome 67
Epidermal Naevus 23
Solomon Syndrome 67
Sfms 22
Sfm 67
Ss 67


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

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

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 epidermal nevus, somatic and urethral syndrome, and has symptoms including prominent occiput, narrow forehead and telecanthus. An important gene associated with Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic is NRAS (Neuroblastoma RAS Viral (V-Ras) Oncogene Homolog), and among its related pathways are Agrin Interactions at Neuromuscular Junction and Negative regulation of MAPK pathway. Affiliated tissues include skin, eye and tongue, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

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 339)
idRelated DiseaseScoreTop Affiliating Genes
1epidermal nevus, somatic30.1FGFR3, HRAS, KRAS, NRAS
2urethral syndrome30.1KRAS, NRAS
3gastrointestinal system disease29.8HRAS, KRAS, NRAS
4syringocystadenoma papilliferum10.8
5lupus erythematosus10.6
6adenoma10.6
7choristoma10.6
8psoriasis10.6
9congenital heart block10.6
10rickets10.5
11hemimegalencephaly10.5
12megalencephaly10.5
13hemihypertrophy10.5
14systemic lupus erythematosus10.5
15cutaneous lupus erythematosus10.5
16epidermodysplasia verruciformis10.4
17apocrine adenoma10.4
18nodular hidradenoma10.4
19ceruminoma10.4
20basal cell carcinoma10.4
21hidradenoma10.4
22linear nevus sebaceus syndrome10.4
23lipoma10.4
24inflammatory linear verrucous epidermal nevus10.4
25subacute cutaneous lupus erythematosus10.4
26precocious puberty10.4
27epidermolytic hyperkeratosis10.4
28hypophosphatemic rickets10.4
29hemangioma10.4
30sinusitis10.4
31coloboma10.4
32choroiditis10.4
33cone dystrophy10.4
34cerebritis10.4
35porencephaly10.4
36gingivitis10.4
37acanthoma10.3
38epidermal nevus vitamin d resistant rickets10.3
39segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus10.3
40sickle cell disease10.3
41central precocious puberty10.3
42premature ejaculation10.3
43clear cell acanthoma10.2
44hypertrichosis10.2
45linear and whorled nevoid hypermelanosis10.2
46sickle cell anemia10.2
47arthritis10.2
48sjogren's syndrome10.2
49sarcoma10.2
50rectosigmoid junction neoplasm10.2KRAS, NRAS

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 56)
id Description Frequency HPO Source Accession
1 prominent occiput hallmark (90%) HP:0000269
2 narrow forehead hallmark (90%) HP:0000341
3 telecanthus hallmark (90%) HP:0000506
4 iris coloboma hallmark (90%) HP:0000612
5 melanocytic nevus hallmark (90%) HP:0000995
6 cavernous hemangioma hallmark (90%) HP:0001048
7 seizures hallmark (90%) HP:0001250
8 muscular hypotonia hallmark (90%) HP:0001252
9 reduced tendon reflexes hallmark (90%) HP:0001315
10 hyperreflexia hallmark (90%) HP:0001347
11 frontal bossing hallmark (90%) HP:0002007
12 eeg abnormality hallmark (90%) HP:0002353
13 genu recurvatum hallmark (90%) HP:0002816
14 vertebral segmentation defect hallmark (90%) HP:0003422
15 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
16 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
17 adenoma sebaceum hallmark (90%) HP:0009720
18 abnormal hair quantity hallmark (90%) HP:0011362
19 cognitive impairment hallmark (90%) HP:0100543
20 asymmetric growth hallmark (90%) HP:0100555
21 facial asymmetry typical (50%) HP:0000324
22 plagiocephaly typical (50%) HP:0001357
23 porencephaly typical (50%) HP:0002132
24 irregular hyperpigmentation typical (50%) HP:0007400
25 dandy-walker malformation occasional (7.5%) HP:0001305
26 cerebral calcification occasional (7.5%) HP:0002514
27 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
28 ophthalmoplegia rare (5%) HP:0000602
29 precocious puberty rare (5%) HP:0000826
30 hyperphosphaturia rare (5%) HP:0003109
31 corneal opacity rare (5%) HP:0007957
32 horseshoe kidney HP:0000085
33 cranial asymmetry HP:0000267
34 coloboma HP:0000589
35 osteopenia HP:0000938
36 hypopigmentation of the skin HP:0001010
37 hemangioma HP:0001028
38 abnormality of finger HP:0001167
39 intellectual disability HP:0001249
40 seizures HP:0001250
41 somatic mosaicism HP:0001442
42 overgrowth HP:0001548
43 alopecia HP:0001596
44 coarctation of aorta HP:0001680
45 abnormality of toe HP:0001780
46 basal cell carcinoma HP:0002671
47 kyphoscoliosis HP:0002751
48 recurrent fractures HP:0002757
49 sporadic HP:0003745
50 short stature HP:0004322
51 hypophosphatemic rickets HP:0004912
52 abnormality of dental morphology HP:0006482
53 hemimegalencephaly HP:0007206
54 ichthyosis HP:0008064
55 nevus sebaceous HP:0010815
56 abnormality of dental color HP:0011073

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
1Immunoglobulin GPhase 2167

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of KRN23 in Adult Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)RecruitingNCT02304367Phase 2

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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 HRAS, KRAS, NRAS
2 Epidermal Nevus24
3 Epidermal Nevus Syndrome24

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, Tongue, Heart, Brain, Bone, Cerebellum

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
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7FGF23, FGFR3, KRAS, NRAS
2MP:00053818.7FGF23, FGFR3, KRAS, NRAS
3MP:00020068.7FGFR3, HRAS, KRAS, NRAS
4MP:00053678.6FGF23, FGFR3, HRAS, KRAS
5MP:00107718.1FGF23, FGFR3, HRAS, KRAS, NRAS
6MP:00053887.9FGF23, FGFR3, GNL3, HRAS, KRAS
7MP:00107687.5FGF23, FGFR3, GNL3, HRAS, KRAS, NRAS
8MP:00053787.5FGF23, 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 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1KRASNM_033360.3(KRAS): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenic, drug responsers121913529GRCh37Chr 12, 25398284: 25398284
2NM_005343.2(HRAS): c.35G> T (p.Gly12Val)single nucleotide variantPathogenicrs104894230GRCh37Chr 11, 534288: 534288
3NM_005343.2(HRAS): c.34G> T (p.Gly12Cys)single nucleotide variantPathogenicrs104894229GRCh37Chr 11, 534289: 534289
4NRASNM_002524.4(NRAS): c.182A> G (p.Gln61Arg)single nucleotide variantPathogenicrs11554290GRCh37Chr 1, 115256529: 115256529
5NM_005343.2(HRAS): c.182A> G (p.Gln61Arg)single nucleotide variantPathogenicrs121913233GRCh38Chr 11, 533874: 533874
6FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)single nucleotide variantPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
7FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
8FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)single nucleotide variantPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
9FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)single nucleotide variantPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
10NM_005343.2(HRAS): c.37G> C (p.Gly13Arg)single nucleotide variantPathogenicrs104894228GRCh37Chr 11, 534286: 534286
11NRASNM_002524.4(NRAS): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs121913237GRCh37Chr 1, 115258747: 115258747

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

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1484HRASskin,scalp,other,nevus sebaceous3
213204HRASskin,scalp,other,nevus sebaceous3
3481HRASskin,face,other,nevus sebaceous3
4486HRASskin,scalp,other,nevus sebaceous3
5480HRASskin,scalp,other,nevus sebaceous3
6520KRASskin,scalp,other,nevus sebaceous3
7521KRASskin,face,other,nevus sebaceous3
835896FGFR3skin,mucosal,epidermal nevus,NS3
9714FGFR3skin,neck,epidermal nevus,common soft3
10764PIK3CAskin,scalp,epidermal nevus,common hard3

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 86)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1HRAS, KRAS, NRAS
2
Show member pathways
9.1HRAS, KRAS, NRAS
39.1HRAS, KRAS, NRAS
49.1HRAS, KRAS, NRAS
59.1HRAS, KRAS, NRAS
6
Show member pathways
9.1HRAS, KRAS, NRAS
7
VEGF Pathway (Tocris)
Show member pathways
9.1HRAS, KRAS, NRAS
8
Show member pathways
9.1HRAS, KRAS, NRAS
99.1HRAS, KRAS, NRAS
109.1HRAS, KRAS, NRAS
119.1HRAS, KRAS, NRAS
129.1HRAS, KRAS, NRAS
13
Show member pathways
9.1HRAS, KRAS, NRAS
14
TGF-beta Signaling Pathway (sino)
Show member pathways
9.1HRAS, KRAS, NRAS
15
Show member pathways
9.1HRAS, KRAS, NRAS
169.1HRAS, KRAS, NRAS
179.1HRAS, KRAS, NRAS
189.1HRAS, KRAS, NRAS
199.1HRAS, KRAS, NRAS
209.1HRAS, KRAS, NRAS
21
Show member pathways
9.1HRAS, KRAS, NRAS
229.1HRAS, KRAS, NRAS
23
Show member pathways
9.1HRAS, KRAS, NRAS
249.1HRAS, KRAS, NRAS
25
Show member pathways
9.1HRAS, KRAS, NRAS
269.1HRAS, KRAS, NRAS
279.1HRAS, KRAS, NRAS
28
Show member pathways
8.6FGF23, HRAS, KRAS, NRAS
298.3FGFR3, HRAS, KRAS, NRAS
308.3FGFR3, HRAS, KRAS, NRAS
318.3FGFR3, HRAS, KRAS, NRAS
328.3FGFR3, HRAS, KRAS, NRAS
338.3FGFR3, HRAS, KRAS, NRAS
34
Show member pathways
8.3FGFR3, HRAS, KRAS, NRAS
35
Show member pathways
8.3FGFR3, HRAS, KRAS, NRAS
36
Show member pathways
7.7FGF23, 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
417.7FGF23, FGFR3, HRAS, KRAS, NRAS
42
Show member pathways
7.7FGF23, FGFR3, HRAS, KRAS, NRAS
43
Show member pathways
7.7FGF23, FGFR3, HRAS, KRAS, NRAS
447.7FGF23, FGFR3, HRAS, KRAS, NRAS
45
Show member pathways
7.7FGF23, FGFR3, HRAS, KRAS, NRAS
46
Show member pathways
7.7FGF23, FGFR3, HRAS, KRAS, NRAS
47
Show member pathways
7.7FGF23, 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
1positive regulation of MAP kinase activityGO:004340610.0HRAS, KRAS
2social behaviorGO:003517610.0HRAS, KRAS
3positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:00900809.8FGF23, FGFR3
4stimulatory C-type lectin receptor signaling pathwayGO:00022239.6HRAS, KRAS, NRAS
5leukocyte migrationGO:00509009.6HRAS, KRAS, NRAS
6positive regulation of ERK1 and ERK2 cascadeGO:00703749.0FGF23, FGFR3, HRAS
7MAPK cascadeGO:00001658.1FGF23, FGFR3, HRAS, KRAS, NRAS
8activation of MAPKK activityGO:00001868.1FGF23, FGFR3, HRAS, KRAS, NRAS
9Ras protein signal transductionGO:00072658.1FGF23, FGFR3, HRAS, KRAS, NRAS
10insulin receptor signaling pathwayGO:00082868.1FGF23, FGFR3, HRAS, KRAS, NRAS
11fibroblast growth factor receptor signaling pathwayGO:00085438.1FGF23, FGFR3, HRAS, KRAS, NRAS
12Fc-epsilon receptor signaling pathwayGO:00380958.0FGF23, FGFR3, HRAS, KRAS, NRAS
13neurotrophin TRK receptor signaling pathwayGO:00480118.0FGF23, FGFR3, HRAS, KRAS, NRAS
14epidermal growth factor receptor signaling pathwayGO:00071737.9FGF23, FGFR3, HRAS, KRAS, NRAS
15axon guidanceGO:00074117.7FGF23, FGFR3, HRAS, KRAS, NRAS
16small GTPase mediated signal transductionGO:00072647.7FGF23, FGFR3, HRAS, KRAS, NRAS
17innate immune responseGO:00450877.6FGF23, FGFR3, HRAS, KRAS, NRAS
18vascular endothelial growth factor receptor signaling pathwayGO:00480107.4FGF23, FGFR3, HRAS, KRAS, NRAS

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

idNameGO IDScoreTop Affiliating Genes
1GTPase activityGO:00039248.8GNL3, HRAS, KRAS
2GTP bindingGO:00055258.5GNL3, 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