MCID: SCH063
MIFTS: 51

Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic malady

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

Summaries for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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OMIM:47 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:43 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

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

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 49Orphanet, 62UMLS, 28ICD10 via Orphanet
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Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic, Aliases & Descriptions:

Name: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 47
Linear Nevus Sebaceus Syndrome 43 49
Sfm Syndrome, Somatic Mosaic 47 11
Organoid Nevus Phakomatosis 43 62
Nevus Sebaceus of Jadassohn 43 49
Schimmelpenning Syndrome 43 49
Nevus Sebaceus Syndrome 43 49
Organoid Nevus Syndrome 43 49
Solomon Syndrome 43 49
 
Schimmelpenning Feuerstein Mims Syndrome 43
Schimmelpenning-Feuerstein-Mims Syndrome 47
Sebaceous Nevus Syndrome Linear 43
Linear Nevus Sebaceous Syndrome 43
Naevus Sebaceus of Jadassohn 62
Jadassohn Nevus Phakomatosis 43
Benign Melanocytic Nevus 62
Sfm Syndrome 43
Jnp 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
linear nevus sebaceus syndrome:
Inheritance: Not applicable; Age of onset: Childhood; Age of death: any age


External Ids:

OMIM47 163200
Orphanet49 2612
ICD10 via Orphanet28 Q85.8

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/GeneDecks gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma30.6KRAS, 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
13lennox-gastaut syndrome10.4
14hypophosphatemic rickets10.3
15hemangioma10.3
16sinusitis10.3
17choroiditis10.3
18coloboma10.3
19cerebritis10.3
20porencephaly10.3
21gingivitis10.3
22arteriovenous malformation10.3
23intracranial arteriovenous malformation10.3
24didymosis aplasticosebacea10.3
25retinoblastoma10.2
26retinal detachment10.2
27retinitis10.2
28thyroid cancer10.0HRAS
29cardiofaciocutaneous syndrome10.0KRAS
30thyroid carcinoma, follicular10.0HRAS, NRAS
31bone marrow cancer10.0KRAS, NRAS
32lynch syndrome10.0KRAS, NRAS
33cholangiocarcinoma10.0KRAS, NRAS
34costello syndrome10.0KRAS, HRAS
35adenomatous polyposis coli10.0NRAS, KRAS
36large cell carcinoma10.0HRAS, KRAS
37myelodysplastic syndrome10.0KRAS, NRAS
38neurofibromatosis10.0KRAS, HRAS
39colon adenocarcinoma10.0KRAS, HRAS
40lung benign neoplasm10.0KRAS, HRAS
41lung cancer susceptibility 310.0HRAS, KRAS
42hepatitis b10.0KRAS, HRAS
43acute leukemia10.0KRAS, HRAS
44leukemia, acute lymphoblastic10.0HRAS, KRAS
45colorectal cancer10.0KRAS, HRAS
46exanthem10.0KRAS, HRAS, NRAS
47leukemia, juvenile myelomonocytic10.0HRAS, KRAS, NRAS
48bladder cancer, somatic10.0KRAS, HRAS
49gallbladder cancer10.0KRAS, NRAS, HRAS
50noonan syndrome 110.0NRAS, 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 for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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Symptoms by clinical synopsis from OMIM:

163200

Clinical features from OMIM:

163200

Symptoms:

 49 (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:

33
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:

37
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:

64
id Symbol AA change Variation ID SNP ID
1HRASp.Gly13ArgVAR_068817

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

7
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:

8
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/GeneDecks:

(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 network38
ErbB signaling pathway38
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 events38
8.5NRAS, HRAS, KRAS
98.5NRAS, HRAS, KRAS
10
Show member pathways
8.5NRAS, KRAS, HRAS
11
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
8.5NRAS, KRAS, HRAS
12
Show member pathways
Signaling Pathways in Glioblastoma38
8.5HRAS, KRAS, NRAS
13
Show member pathways
8.5NRAS, KRAS, HRAS
14
Show member pathways
Immune response CD16 signaling in NK cells60
8.5NRAS, KRAS, HRAS
15
Show member pathways
BCR signaling pathway38
TCR Signaling Pathway38
8.5HRAS, KRAS, NRAS
16
Show member pathways
8.5HRAS, KRAS, NRAS
17
Show member pathways
Prolactin Signaling Pathway38
Development Prolactin receptor signaling60
Leptin signaling pathway38
8.5KRAS, NRAS, HRAS
18
Show member pathways
8.5KRAS, NRAS, HRAS
19
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
8.5HRAS, KRAS, NRAS
20
Show member pathways
Toll-like receptor signaling pathway38
Regulation of toll-like receptor signaling pathway38
8.5HRAS, KRAS, NRAS
21
Show member pathways
8.5KRAS, NRAS, HRAS
228.5HRAS, KRAS, NRAS
23
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
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 pathway60
Fc-epsilon receptor I signaling in mast cells38
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 Cascade38
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway38
8.5HRAS, KRAS, NRAS
40
Show member pathways
Signal transduction cAMP signaling60
8.5KRAS, HRAS, NRAS
41
Show member pathways
8.5NRAS, KRAS, HRAS
42
Show member pathways
PLK2 and PLK4 events38
Polo-like kinase signaling events in the cell cycle38
8.5HRAS, KRAS, NRAS
438.5NRAS, KRAS, HRAS
44
Show member pathways
Signal transduction PTEN pathway60
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:
45Novoseek, 30IUPHAR, 13DrugBank, 51PharmGKB, 26HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1farnesyl diphosphate45 30 1311.2HRAS, KRAS
2crcs459.1HRAS, KRAS
3valine459.0HRAS, KRAS
4agar459.0HRAS, NRAS
5paclitaxel45 51 1311.0HRAS, KRAS
6Guanosine triphosphate268.7HRAS, KRAS, NRAS
7oligonucleotide458.6NRAS, KRAS, HRAS
8tyrosine458.4NRAS, 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/GeneDecks:

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

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

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

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
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet