MCID: SCH063
MIFTS: 40

Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic malady

Genetic diseases, Eye diseases, Skin diseases, Fetal diseases, Cancer diseases, Rare diseases categories
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Summaries for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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47OMIM, 33MalaCards
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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:47 163200

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

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47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
linear nevus sebaceus syndrome:
Inheritance: Sporadic; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

schimmelpenning-feuerstein-mims syndrome, somatic mosaic 47
linear nevus sebaceus syndrome 49
organoid nevus phakomatosis 62
nevus sebaceus of jadassohn 49
benign melanocytic nevus 62
schimmelpenning syndrome 49
nevus sebaceus syndrome 49
organoid nevus syndrome 49
solomon syndrome 49


External Ids:

OMIM47 163200
ICD10 via Orphanet26 Q85.8
SNOMED-CT via Orphanet59 52298009

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

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

163200

Clinical features from OMIM:

163200

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

33
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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64UniProtKB/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:

64
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, 15Gene 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:
50PathCards, 61Tocris Bioscience, 30KEGG, 38NCBI BioSystems Database, 60Thomson Reuters, 54R&D Systems, 53QIAGEN, 55Reactome, 51PharmGKB, 57SinoBiological
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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 Pathway38
Development Prolactin receptor signaling60
Leptin signaling pathway38
9.1KRAS, HRAS
3
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
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 events38
Polo-like kinase signaling events in the cell cycle38
9.1KRAS, HRAS
12
Show member pathways
BCR signaling pathway38
TCR Signaling Pathway38
9.1KRAS, HRAS
13
Show member pathways
Signaling Pathways in Glioblastoma38
9.1HRAS, KRAS
14
Show member pathways
9.1HRAS, KRAS
15
Show member pathways
9.1KRAS, HRAS
16
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.1KRAS, HRAS
179.1HRAS, KRAS
18
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
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 pathways60
Immune response IL 1 signaling pathway60
9.1KRAS, HRAS
22
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor38
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
9.1HRAS, KRAS
23
Show member pathways
Immune response CD16 signaling in NK cells60
9.1KRAS, HRAS
24
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells38
9.1KRAS, HRAS
25
Show member pathways
Signal transduction PTEN pathway60
9.1KRAS, HRAS
26
Show member pathways
Signal transduction cAMP signaling60
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 network38
ErbB signaling pathway38
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 Cascade38
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway38
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 events38
9.1KRAS, HRAS

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

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45Novoseek, 29IUPHAR, 11DrugBank, 51PharmGKB, 24HMDB, 61Tocris 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 diphosphate45 29 1111.4HRAS, KRAS
2crcs459.4HRAS, KRAS
3valine459.4HRAS, KRAS
4paclitaxel45 51 1111.3KRAS, HRAS
5rapamycin459.3HRAS, KRAS
6ly294002459.3HRAS, KRAS
7wortmannin459.2KRAS, HRAS
8phosphoinositide459.2HRAS, KRAS
9paraffin459.1HRAS, KRAS
10Guanosine triphosphate249.1HRAS, KRAS
11gtp45 2910.0KRAS, HRAS
12cisplatin45 51 61 1111.8HRAS, KRAS

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

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16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet