MCID: SCH063
MIFTS: 44

Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic malady

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

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

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 48Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

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

Name: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 46
Linear Nevus Sebaceus Syndrome 42 48
Sfm Syndrome, Somatic Mosaic 46 9
Organoid Nevus Phakomatosis 42 61
Nevus Sebaceus of Jadassohn 42 48
Schimmelpenning Syndrome 42 48
Nevus Sebaceus Syndrome 42 48
Organoid Nevus Syndrome 42 48
Solomon Syndrome 42 48
 
Schimmelpenning Feuerstein Mims Syndrome 42
Schimmelpenning-Feuerstein-Mims Syndrome 46
Sebaceous Nevus Syndrome Linear 42
Linear Nevus Sebaceous Syndrome 42
Nevus, Sebaceous of Jadassohn 61
Jadassohn Nevus Phakomatosis 42
Sfm Syndrome 42
Jnp 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
linear nevus sebaceus syndrome:
Inheritance: Not applicable; Age of onset: Childhood; Age of death: any age


External Ids:

OMIM46 163200
Orphanet48 2612
ICD10 via Orphanet26 Q85.8

Summaries for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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OMIM:46 Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous... (163200) more...

MalaCards based summary: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic, also known as linear nevus sebaceus syndrome, is related to adenoma and syringocystadenoma papilliferum, and has symptoms including prominent occiput, narrow forehead and telecanthus. An important gene associated with Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic is HRAS (Harvey rat sarcoma viral oncogene homolog), and among its related pathways are Thyroid hormone signaling pathway and Sorafenib Pharmacodynamics. The compounds farnesyl diphosphate and crcs have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and brain, and related mouse phenotypes are tumorigenesis and cardiovascular system.

NIH Rare Diseases:42 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

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 61)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma30.3KRAS, HRAS, NRAS
2syringocystadenoma papilliferum10.8
3choristoma10.6
4rickets10.5
5hemimegalencephaly10.5
6epidermodysplasia verruciformis10.4
7spiradenoma10.4
8nodular hidradenoma10.4
9mucoepidermoid carcinoma10.4
10apocrine adenoma10.4
11basal cell carcinoma10.4
12hidradenoma10.4
13epidermal nevus, somatic10.4
14lennox-gastaut syndrome10.4
15hypophosphatemic rickets10.3
16hemangioma10.3
17sinusitis10.3
18choroiditis10.3
19coloboma10.3
20cerebritis10.3
21porencephaly10.3
22gingivitis10.3
23thyroid cancer10.3HRAS
24cardiofaciocutaneous syndrome10.3KRAS
25arteriovenous malformation10.3
26intracranial arteriovenous malformation10.3
27didymosis aplasticosebacea10.3
28retinoblastoma10.2
29retinal detachment10.2
30retinitis10.2
31thyroid carcinoma, follicular10.1HRAS, NRAS
32bone marrow cancer10.0KRAS, NRAS
33lynch syndrome10.0KRAS, NRAS
34cholangiocarcinoma10.0KRAS, NRAS
35costello syndrome10.0KRAS, HRAS
36adenomatous polyposis coli10.0NRAS, KRAS
37large cell carcinoma10.0HRAS, KRAS
38myelodysplastic syndrome10.0KRAS, NRAS
39neurofibromatosis10.0KRAS, HRAS
40colon adenocarcinoma9.9KRAS, HRAS
41lung benign neoplasm9.9KRAS, HRAS
42lung cancer susceptibility 39.9HRAS, KRAS
43hepatitis b9.9KRAS, HRAS
44acute leukemia9.9KRAS, HRAS
45leukemia, acute lymphoblastic9.8HRAS, KRAS
46colorectal cancer9.8KRAS, HRAS
47exanthem9.8KRAS, HRAS, NRAS
48leukemia, juvenile myelomonocytic9.8HRAS, KRAS, NRAS
49bladder cancer, somatic9.8KRAS, HRAS
50gallbladder cancer9.8KRAS, NRAS, 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 for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Symptoms by clinical synopsis from OMIM:

163200

Clinical features from OMIM:

163200

Symptoms:

 48 (show all 31)
  • prominent occiput/occipital bossing
  • frontal bossing/prominent forehead
  • narrow forehead
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • coloboma of iris
  • telecanthus/canthal dystopy
  • vertebral segmentation anomaly/hemivertebrae
  • genu recurvatum
  • pigmented naevi/naevus pigmentosus/lentigo
  • cavernous/tuberous hemangioma
  • adenoma sebaceum
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • dilated cerebral ventricles without hydrocephaly
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • eeg anomalies
  • hypotonia
  • areflexia/hyporeflexia
  • hypereflexia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • plagiocephaly
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • anomalies of eyes and vision
  • irregular/in bands/reticular skin hyperpigmentation
  • porencephaly
  • dandy-walker anomaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • intracranial/cerebral calcifications
  • failure to thrive/difficulties for feeding in infancy/growth delay

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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Drug clinical trials:

Search ClinicalTrials for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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

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

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

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

31
Eye, Skin, Brain, Heart, Cerebellum, Kidney

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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.5HRAS, KRAS, NRAS
2MP:00053858.5HRAS, KRAS, NRAS
3MP:00107718.4HRAS, KRAS, NRAS
4MP:00028738.2NRAS, KRAS, HRAS

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:

63
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 variantPathogenic, drug responsers121913529GRCh37Chr 12, 25398284: 25398284
2HRASNM_005343.2(HRAS): c.37G> C (p.Gly13Arg)single nucleotide variantPathogenicrs104894228GRCh37Chr 11, 534286: 534286

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

6
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

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 90)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.5NRAS, HRAS, KRAS
2
Show member pathways
8.5NRAS, HRAS, KRAS
3
Show member pathways
8.5NRAS, HRAS, KRAS
4
Show member pathways
8.5NRAS, HRAS, KRAS
5
Show member pathways
ErbB receptor signaling network36
ErbB signaling pathway36
8.5NRAS, HRAS, KRAS
6
Show member pathways
8.5NRAS, HRAS, KRAS
7
Show member pathways
8.5NRAS, HRAS, KRAS
8
Show member pathways
EGFR-dependent Endothelin signaling events36
8.5NRAS, HRAS, KRAS
98.5NRAS, HRAS, KRAS
10
Show member pathways
8.5NRAS, KRAS, HRAS
11
Show member pathways
Development EGFR signaling via PIP359
Development PDGF signaling via MAPK cascades59
Apoptosis and survival Anti apoptotic action of membrane bound ESR159
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases59
Development Neurotrophin family signaling59
Apoptosis and survival NGF signaling pathway59
Apoptosis and survival Role of CDK5 in neuronal death and survival59
8.5NRAS, KRAS, HRAS
12
Show member pathways
Signaling Pathways in Glioblastoma36
8.5HRAS, KRAS, NRAS
13
Show member pathways
8.5NRAS, KRAS, HRAS
14
Show member pathways
Immune response CD16 signaling in NK cells59
8.5NRAS, KRAS, HRAS
15
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
8.5HRAS, KRAS, NRAS
16
Show member pathways
8.5HRAS, KRAS, NRAS
17
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling59
Leptin signaling pathway36
8.5KRAS, NRAS, HRAS
18
Show member pathways
8.5KRAS, NRAS, HRAS
19
Show member pathways
Cytoskeleton remodeling FAK signaling59
Development Endothelin 1 EDNRA transactivation of EGFR59
8.5HRAS, KRAS, NRAS
20
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
8.5HRAS, KRAS, NRAS
21
Show member pathways
8.5KRAS, NRAS, HRAS
228.5HRAS, KRAS, NRAS
23
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
8.5KRAS, NRAS, HRAS
24
Show member pathways
8.5HRAS, KRAS, NRAS
258.5KRAS, HRAS, NRAS
268.5HRAS, KRAS, NRAS
27
Show member pathways
8.5NRAS, KRAS, HRAS
28
Show member pathways
Immune response BCR pathway59
Fc-epsilon receptor I signaling in mast cells36
8.5NRAS, KRAS, HRAS
298.5NRAS, KRAS, HRAS
308.5HRAS, KRAS, NRAS
31
Show member pathways
8.5NRAS, KRAS, HRAS
32
Show member pathways
8.5NRAS, KRAS, HRAS
33
Show member pathways
8.5NRAS, KRAS, HRAS
34
Show member pathways
8.5HRAS, KRAS, NRAS
358.5KRAS, NRAS, HRAS
36
Show member pathways
8.5KRAS, NRAS, HRAS
37
Show member pathways
8.5NRAS, KRAS, HRAS
388.5NRAS, KRAS, HRAS
39
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells59
Oncostatin M Signaling Pathway36
8.5HRAS, KRAS, NRAS
40
Show member pathways
Signal transduction cAMP signaling59
8.5KRAS, HRAS, NRAS
41
Show member pathways
8.5NRAS, KRAS, HRAS
42
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
8.5HRAS, KRAS, NRAS
438.5NRAS, KRAS, HRAS
44
Show member pathways
Signal transduction PTEN pathway59
8.5HRAS, NRAS, KRAS
458.5HRAS, NRAS, KRAS
468.5HRAS, NRAS, KRAS
47
Show member pathways
8.5HRAS, NRAS, KRAS
48
Show member pathways
8.5HRAS, NRAS, KRAS
49
Show member pathways
8.5HRAS, NRAS, KRAS
508.5HRAS, NRAS, KRAS

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

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 50PharmGKB, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1farnesyl diphosphate44 28 1111.2HRAS, KRAS
2crcs449.1HRAS, KRAS
3valine449.0HRAS, KRAS
4agar449.0HRAS, NRAS
5paclitaxel44 50 1111.0HRAS, KRAS
6Guanosine triphosphate248.7HRAS, KRAS, NRAS
7oligonucleotide448.6NRAS, KRAS, HRAS
8tyrosine448.4NRAS, KRAS, HRAS

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 25)
idNameGO IDScoreTop Affiliating Genes
1social behaviorGO:00351769.0KRAS, HRAS
2positive regulation of protein phosphorylationGO:00019349.0KRAS, HRAS
3positive regulation of Rac protein signal transductionGO:00350228.9NRAS, HRAS, KRAS
4regulation of synaptic transmission, GABAergicGO:00322288.9KRAS, NRAS, HRAS
5striated muscle cell differentiationGO:00511468.9HRAS, KRAS, NRAS
6regulation of long-term neuronal synaptic plasticityGO:00481698.9KRAS, NRAS, HRAS
7visual learningGO:00085428.9HRAS, KRAS, NRAS
8activation of MAPKK activityGO:00001868.8NRAS, KRAS, HRAS
9MAPK cascadeGO:00001658.8NRAS, KRAS, HRAS
10Ras protein signal transductionGO:00072658.8KRAS, NRAS, HRAS
11leukocyte migrationGO:00509008.8NRAS, KRAS, HRAS
12negative regulation of neuron apoptotic processGO:00435248.8NRAS, HRAS, KRAS
13GTP catabolic processGO:00061848.8KRAS, HRAS, NRAS
14actin cytoskeleton organizationGO:00300368.8KRAS, NRAS, HRAS
15insulin receptor signaling pathwayGO:00082868.8NRAS, HRAS, KRAS
16fibroblast growth factor receptor signaling pathwayGO:00085438.8NRAS, KRAS, HRAS
17Fc-epsilon receptor signaling pathwayGO:00380958.7HRAS, NRAS, KRAS
18positive regulation of MAP kinase activityGO:00434068.7HRAS, KRAS
19epidermal growth factor receptor signaling pathwayGO:00071738.7NRAS, KRAS, HRAS
20neurotrophin TRK receptor signaling pathwayGO:00480118.7KRAS, NRAS, HRAS
21small GTPase mediated signal transductionGO:00072648.7NRAS, KRAS, HRAS
22axon guidanceGO:00074118.7HRAS, KRAS, NRAS
23positive regulation of cell proliferationGO:00082848.6NRAS, HRAS, KRAS
24blood coagulationGO:00075968.6NRAS, KRAS, HRAS
25innate immune responseGO:00450878.4HRAS, KRAS, NRAS

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

idNameGO IDScoreTop Affiliating Genes
1protein complex bindingGO:00324039.1KRAS, NRAS
2GTP bindingGO:00055258.2HRAS, KRAS, NRAS

Sources for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet