MCID: SCH063
MIFTS: 41

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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MalaCards based summary: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic, also known as linear nevus sebaceus syndrome, is related to adenoma and retinoblastoma, and has symptoms including prominent occiput/occipital bossing, frontal bossing/prominent forehead and narrow forehead. 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:46 163200

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

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Sources:
48Orphanet, 62UMLS, 46OMIM, 26ICD10 via Orphanet
See all sources

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

Name: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 46
Linear Nevus Sebaceus Syndrome 48
Naevus Sebaceus of Jadassohn 62
Organoid Nevus Phakomatosis 62
Nevus Sebaceus of Jadassohn 48
 
Schimmelpenning Syndrome 48
Benign Melanocytic Nevus 62
Organoid Nevus Syndrome 48
Nevus Sebaceus Syndrome 48
Solomon Syndrome 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
linear nevus sebaceus syndrome:
Inheritance: Sporadic; Age of onset: Childhood; Age of death: Any age


External Ids:

OMIM46 163200
ICD10 via Orphanet26 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 all 47)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma30.5KRAS, HRAS
2retinoblastoma30.2KRAS, HRAS
3syringocystadenoma papilliferum10.8
4choristoma10.6
5nodular hidradenoma10.4
6epidermodysplasia verruciformis10.4
7spiradenoma10.4
8mucoepidermoid carcinoma10.4
9apocrine adenoma10.4
10basal cell carcinoma10.4
11hidradenoma10.4
12linear nevus sebaceous syndrome10.4
13cardiofaciocutaneous syndrome10.4KRAS
14lennox-gastaut syndrome10.4
15rickets10.4
16arteriovenous malformation10.3
17intracranial arteriovenous malformation10.3
18epidermal nevus10.3
19didymosis aplasticosebacea10.3
20coloboma10.2
21retinal detachment10.2
22retinitis10.2
23cerebritis10.1
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 lymphoblastic leukemia10.0HRAS, KRAS
41bladder carcinoma10.0KRAS, HRAS
42sarcoma10.0HRAS, KRAS
43lung cancer9.9KRAS, HRAS
44colorectal cancer9.9HRAS, KRAS
45colonic benign neoplasm9.9HRAS, KRAS
46non-small cell lung carcinoma9.8KRAS, HRAS
47pancreatic cancer9.8HRAS, 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:

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:

32
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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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:

6
id Gene Name Type Significance SNP ID Assembly Location
1KRASNM_033360.3(KRAS): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs121913529GRCh37Chr 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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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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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 Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
9.1HRAS, KRAS
3
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
9.1KRAS, HRAS
4
Show member pathways
9.1HRAS, KRAS
59.1HRAS, KRAS
6
Show member pathways
9.1KRAS, HRAS
79.1HRAS, KRAS
89.1HRAS, KRAS
9
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.1KRAS, HRAS
10
Show member pathways
9.1KRAS, HRAS
119.1KRAS, HRAS
12
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
9.1KRAS, HRAS
13
Show member pathways
Signaling Pathways in Glioblastoma37
9.1HRAS, KRAS
14
Show member pathways
9.1KRAS, HRAS
15
Show member pathways
9.1HRAS, KRAS
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
9.1HRAS, KRAS
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
9.1HRAS, KRAS
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 Receptor37
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
9.1KRAS, HRAS
23
Show member pathways
Immune response CD16 signaling in NK cells60
9.1HRAS, KRAS
24
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells37
9.1HRAS, KRAS
25
Show member pathways
Signal transduction PTEN pathway60
9.1KRAS, HRAS
26
Show member pathways
Signal transduction cAMP signaling60
9.1HRAS, KRAS
279.1KRAS, HRAS
28
Show member pathways
9.1HRAS, KRAS
29
Show member pathways
9.1KRAS, HRAS
30
Show member pathways
9.1HRAS, KRAS
319.1HRAS, KRAS
329.1KRAS, HRAS
33
Show member pathways
9.1HRAS, KRAS
349.1HRAS, KRAS
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
9.1HRAS, KRAS
409.1HRAS, KRAS
41
Show member pathways
ErbB receptor signaling network37
ErbB signaling pathway37
9.1HRAS, KRAS
42
Show member pathways
9.1KRAS, HRAS
439.1HRAS, KRAS
44
Show member pathways
9.1KRAS, HRAS
459.1HRAS, KRAS
46
Show member pathways
9.1HRAS, KRAS
47
Show member pathways
9.1KRAS, HRAS
48
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
9.1KRAS, HRAS
49
Show member pathways
9.1HRAS, KRAS
50
Show member pathways
EGFR-dependent Endothelin signaling events37
9.1HRAS, KRAS

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

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

(show all 12)
idCompoundScoreTop Affiliating Genes
1farnesyl diphosphate44 28 1111.4HRAS, KRAS
2crcs449.4HRAS, KRAS
3valine449.4HRAS, KRAS
4paclitaxel44 50 1111.3KRAS, HRAS
5rapamycin449.3HRAS, KRAS
6ly294002449.3HRAS, KRAS
7wortmannin449.2KRAS, HRAS
8phosphoinositide449.2HRAS, KRAS
9paraffin449.1HRAS, KRAS
10Guanosine triphosphate249.1HRAS, KRAS
11gtp44 2810.0KRAS, HRAS
12cisplatin44 50 61 1111.8HRAS, KRAS

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 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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25ICD10
26ICD10 via Orphanet
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