MCID: SCH063
MIFTS: 40

Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic malady

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

Summaries for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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48OMIM, 34MalaCards
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MalaCards: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic, also known as linear nevus sebaceus syndrome, is related to adenoma and retinoblastoma, and has symptoms including areflexia/hyporeflexia, dilated cerebral ventricles without hydrocephaly and telecanthus/canthal dystopy. 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 Apoptosis Pathway and Prolactin signaling pathway. The compounds farnesyl diphosphate and crcs have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and cerebellum.

Description from OMIM:48 163200

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

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48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
linear nevus sebaceus syndrome:
Inheritance: Sporadic; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

schimmelpenning-feuerstein-mims syndrome, somatic mosaic 48
linear nevus sebaceus syndrome 50
organoid nevus phakomatosis 63
nevus sebaceus of jadassohn 50
benign melanocytic nevus 63
schimmelpenning syndrome 50
nevus sebaceus syndrome 50
organoid nevus syndrome 50
solomon syndrome 50


External Ids:

OMIM48 163200
ICD10 via Orphanet27 Q85.8
SNOMED-CT via Orphanet60 52298009

Related Diseases for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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18GeneCards, 19GeneDecks
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Diseases related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma30.6KRAS, HRAS
2retinoblastoma30.3KRAS, HRAS
3syringocystadenoma papilliferum10.8
4spiradenoma10.4
5nodular hidradenoma10.4
6mucoepidermoid carcinoma10.4
7epidermodysplasia verruciformis10.4
8apocrine adenoma10.4
9basal cell carcinoma10.4
10hidradenoma10.4
11linear nevus sebaceous syndrome10.4
12rickets10.4
13lennox-gastaut syndrome10.4
14choristoma10.4
15arteriovenous malformation10.2
16intracranial arteriovenous malformation10.2
17epidermal nevus10.2
18didymosis aplasticosebacea10.2
19coloboma10.2
20retinal detachment10.2
21retinitis10.2
22cerebritis10.1
23cardiofaciocutaneous syndrome10.1KRAS
24costello syndrome10.0KRAS, HRAS
25exanthem10.0HRAS, KRAS
26juvenile myelomonocytic leukemia10.0HRAS, KRAS
27noonan syndrome10.0HRAS, KRAS
28gallbladder cancer10.0KRAS, HRAS
29large cell carcinoma10.0KRAS, HRAS
30neurofibromatosis10.0KRAS, HRAS
31pancreatitis10.0KRAS, HRAS
32colon adenocarcinoma10.0HRAS, KRAS
33lung benign neoplasm10.0HRAS, KRAS
34breast cancer10.0HRAS, KRAS
35endometrial carcinoma10.0HRAS, KRAS
36chronic myeloid leukemia10.0HRAS, KRAS
37lung adenocarcinoma10.0HRAS, KRAS
38hepatitis b10.0HRAS, KRAS
39acute leukemia10.0HRAS, KRAS
40acute lymphocytic leukemia10.0HRAS, KRAS
41bladder carcinoma10.0KRAS, HRAS
42sarcoma10.0HRAS, KRAS
43lung cancer10.0KRAS, HRAS
44colorectal cancer10.0HRAS, KRAS
45colon cancer10.0HRAS, KRAS
46non-small cell lung carcinoma10.0KRAS, HRAS
47pancreatic cancer9.9HRAS, 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 for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

163200

Clinical features from OMIM:

163200

Symptoms:

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

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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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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34MalaCards
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MalaCards organs/tissues related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

34
Eye, Skin, Cerebellum

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

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Publications for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Variations for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

65
id Symbol AA change Variation ID SNP ID
1HRASp.Gly13ArgVAR_068817

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

1
id Gene Name 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

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

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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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Sources:
51PathCards, 62Tocris Bioscience, 31KEGG, 39NCBI BioSystems Database, 61Thomson Reuters, 55R&D Systems, 54QIAGEN, 56Reactome, 52PharmGKB, 58SinoBiological
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Pathways related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic according to GeneCards/GeneDecks:

(show top 50)    (show all 67)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1HRAS, KRAS
2
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
9.1KRAS, HRAS
3
Show member pathways
IL-9 Signaling Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
9.1KRAS, HRAS
4
Show member pathways
9.1HRAS, KRAS
59.1HRAS, KRAS
6
Show member pathways
9.1HRAS, KRAS
79.1KRAS, HRAS
89.1KRAS, HRAS
99.1HRAS, KRAS
10
Show member pathways
9.1HRAS, KRAS
11
Show member pathways
PLK2 and PLK4 events39
Polo-like kinase signaling events in the cell cycle39
9.1KRAS, HRAS
12
Show member pathways
BCR signaling pathway39
TCR Signaling Pathway39
9.1KRAS, HRAS
13
Show member pathways
Signaling Pathways in Glioblastoma39
9.1HRAS, KRAS
14
Show member pathways
9.1HRAS, KRAS
15
Show member pathways
9.1KRAS, HRAS
16
Show member pathways
Development EDNRB signaling61
Development ACM2 and ACM4 activation of ERK61
Cell adhesion Integrin inside out signaling61
Development G Proteins mediated regulation MARK ERK signaling61
Signal transduction IP3 signaling61
Development Angiotensin signaling via PYK261
Development EPO induced MAPK pathway61
9.1KRAS, HRAS
179.1HRAS, KRAS
18
Show member pathways
Cytoskeleton remodeling FAK signaling61
Development Endothelin 1 EDNRA transactivation of EGFR61
9.1KRAS, HRAS
19
Show member pathways
9.1HRAS, KRAS
209.1KRAS, HRAS
21
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways61
Immune response IL 1 signaling pathway61
9.1KRAS, HRAS
22
Show member pathways
Development EGFR signaling via PIP361
Development PDGF signaling via MAPK cascades61
Apoptosis and survival Anti apoptotic action of membrane bound ESR161
Signaling of Hepatocyte Growth Factor Receptor39
Development EGFR signaling via small GTPases61
Development Neurotrophin family signaling61
Apoptosis and survival NGF signaling pathway61
Apoptosis and survival Role of CDK5 in neuronal death and survival61
9.1HRAS, KRAS
23
Show member pathways
Immune response CD16 signaling in NK cells61
9.1KRAS, HRAS
24
Show member pathways
Immune response BCR pathway61
Fc-epsilon receptor I signaling in mast cells39
9.1KRAS, HRAS
25
Show member pathways
Signal transduction PTEN pathway61
9.1KRAS, HRAS
26
Show member pathways
Signal transduction cAMP signaling61
9.1KRAS, HRAS
27
Show member pathways
9.1HRAS, KRAS
28
Show member pathways
9.1KRAS, HRAS
299.1HRAS, KRAS
30
Show member pathways
9.1HRAS, KRAS
319.1HRAS, KRAS
329.1HRAS, KRAS
33
Show member pathways
9.1HRAS, KRAS
349.1KRAS, HRAS
359.1HRAS, KRAS
36
Show member pathways
9.1KRAS, HRAS
37
Show member pathways
9.1KRAS, HRAS
38
Show member pathways
9.1KRAS, HRAS
39
Show member pathways
9.1KRAS, HRAS
409.1HRAS, KRAS
41
Show member pathways
ErbB receptor signaling network39
ErbB signaling pathway39
9.1KRAS, HRAS
42
Show member pathways
9.1KRAS, HRAS
439.1KRAS, HRAS
44
Show member pathways
9.1HRAS, KRAS
459.1HRAS, KRAS
46
Show member pathways
9.1KRAS, HRAS
47
Show member pathways
MAPK Cascade39
Immune response Oncostatin M signaling via MAPK in human cells61
Oncostatin M Signaling Pathway39
9.1HRAS, KRAS
48
Show member pathways
9.1KRAS, HRAS
49
Show member pathways
9.1KRAS, HRAS
50
Show member pathways
EGFR-dependent Endothelin signaling events39
9.1KRAS, HRAS

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

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46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 25HMDB, 62Tocris Bioscience
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Compounds related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1farnesyl diphosphate46 30 1211.4HRAS, KRAS
2crcs469.4HRAS, KRAS
3valine469.4HRAS, KRAS
4paclitaxel46 52 1211.3KRAS, HRAS
5rapamycin469.3HRAS, KRAS
6ly294002469.3HRAS, KRAS
7wortmannin469.2KRAS, HRAS
8phosphoinositide469.2HRAS, KRAS
9paraffin469.1HRAS, KRAS
10Guanosine triphosphate259.1HRAS, KRAS
11gtp46 3010.0KRAS, HRAS
12cisplatin46 52 62 1211.8HRAS, KRAS

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

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17Gene Ontology
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Biological processes related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic according to GeneCards/GeneDecks:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of Rac protein signal transductionGO:0350229.5HRAS, KRAS
2regulation of synaptic transmission, GABAergicGO:0322289.5HRAS, KRAS
3striated muscle cell differentiationGO:0511469.5HRAS, KRAS
4regulation of long-term neuronal synaptic plasticityGO:0481699.5KRAS, HRAS
5social behaviorGO:0351769.5HRAS, KRAS
6visual learningGO:0085429.5HRAS, KRAS
7positive regulation of MAP kinase activityGO:0434069.5KRAS, HRAS
8activation of MAPKK activityGO:0001869.4HRAS, KRAS
9MAPK cascadeGO:0001659.4HRAS, KRAS
10Ras protein signal transductionGO:0072659.4KRAS, HRAS
11positive regulation of protein phosphorylationGO:0019349.4HRAS, KRAS
12leukocyte migrationGO:0509009.4HRAS, KRAS
13negative regulation of neuron apoptotic processGO:0435249.4KRAS, HRAS
14GTP catabolic processGO:0061849.4HRAS, KRAS
15actin cytoskeleton organizationGO:0300369.4HRAS, KRAS
16insulin receptor signaling pathwayGO:0082869.3KRAS, HRAS
17fibroblast growth factor receptor signaling pathwayGO:0085439.3HRAS, KRAS
18Fc-epsilon receptor signaling pathwayGO:0380959.3HRAS, KRAS
19epidermal growth factor receptor signaling pathwayGO:0071739.2KRAS, HRAS
20neurotrophin TRK receptor signaling pathwayGO:0480119.2HRAS, KRAS
21small GTPase mediated signal transductionGO:0072649.1HRAS, KRAS
22blood coagulationGO:0075969.1HRAS, KRAS
23axon guidanceGO:0074119.0KRAS, HRAS
24positive regulation of cell proliferationGO:0082848.8HRAS, KRAS

Molecular functions related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1GTP bindingGO:0055259.1HRAS, KRAS

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

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Sources for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet