MCID: SCH063
MIFTS: 52

Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases

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

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Sources:
50OMIM, 23GeneTests, 68UniProtKB/Swiss-Prot, 46NIH Rare Diseases, 52Orphanet, 66UMLS, 25GTR, 37MeSH, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 50 23
Epidermal Nevus Syndrome 23 52 68 25
Jadassohn Nevus Phakomatosis 46 23 68
Organoid Nevus Phakomatosis 46 68 66
Nevus Sebaceus of Jadassohn 46 52 68
Sfm Syndrome 46 23 68
Schimmelpenning-Feuerstein-Mims Syndrome 50 68
Linear Sebaceous Nevus Syndrome 23 68
Schimmelpenning Syndrome 52 68
Solomon Syndrome 52 68
Jnp 46 68
 
Schimmelpenning Feuerstein Mims Syndrome 46
Sebaceous Nevus Syndrome Linear 46
Linear Nevus Sebaceous Syndrome 46
Linear Nevus Sebaceus Syndrome 52
Nevus, Sebaceous of Jadassohn 37
Epidermal Hamartoma Syndrome 52
Organoid Nevus Syndrome 52
Nevus Sebaceus Syndrome 52
Nevus Sebaceous 66
Sfm 68
Ss 68

Characteristics:

Orphanet epidemiological data:

52
nevus sebaceus of jadassohn:
Inheritance: Not applicable; Age of onset: Childhood; Age of death: any age
epidermal nevus syndrome:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal

HPO:

62
schimmelpenning-feuerstein-mims syndrome, somatic mosaic:
Inheritance: somatic mosaicism, sporadic


Classifications:



External Ids:

OMIM50 163200
ICD10 via Orphanet29 Q85.8
MESH via Orphanet38 C536114, D054000
UMLS via Orphanet67 C0334082
MedGen35 C0265318
MeSH37 D054000

Summaries for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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UniProtKB/Swiss-Prot:68 Schimmelpenning-Feuerstein-Mims syndrome: A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis.

MalaCards based summary: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic, also known as epidermal nevus syndrome, is related to epidermal nevus, somatic and melanoma, and has symptoms including prominent occiput, narrow forehead and telecanthus. An important gene associated with Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways are Signaling by PTK6 and G12-G13 in Cellular Signaling. Affiliated tissues include eye, skin and brain, and related mouse phenotypes are integument and craniofacial.

NIH Rare Diseases:46 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

OMIM:50 Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous... (163200) more...

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 192)
idRelated DiseaseScoreTop Affiliating Genes
1epidermal nevus, somatic31.4FGFR3, HRAS, KRAS, NRAS
2melanoma29.6HRAS, NRAS
3segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome12.1
4sickle cell anemia11.4
5didymosis aplasticosebacea11.1
6becker nevus syndrome11.1
7neutrophilic dermatosis, acute febrile10.9
8mental retardation-hypotonic facies syndrome, x-linked10.9
9mental retardation smith fineman myers type10.9
10inflammatory linear verrucous epidermal nevus10.6
11sjogren's syndrome10.5
12syringocystadenoma papilliferum10.5
13phacomatosis pigmentokeratotica10.4
14vagina sarcoma10.4HRAS, KRAS
15glomerulosclerosis10.3HRAS, KRAS
16gonococcal spondylitis10.3HRAS, KRAS
17lupus erythematosus10.3
18myxosarcoma10.3HRAS, KRAS
19seminal vesicle chronic gonorrhea10.3HRAS, KRAS
20ureter adenocarcinoma10.3HRAS, KRAS
21trachea adenoid cystic carcinoma10.3HRAS, KRAS
22breast papillary carcinoma10.3HRAS, KRAS
23spindle epithelial tumor with thymus-like differentiation tumor10.3HRAS, KRAS
24uterine ligament serous adenocarcinoma10.3HRAS, KRAS
25appendix mucinous cystadenocarcinoma10.3HRAS, KRAS
26tabes dorsalis10.3HRAS, KRAS
27acanthoma10.3HRAS, KRAS
28migraine with aura10.3HRAS, KRAS
29ovarian serous adenofibroma10.3HRAS, KRAS
30advanced sleep phase syndrome10.3HRAS, KRAS
31adenoma10.3
32papilloma10.3HRAS, KRAS
33rete testis neoplasm10.3HRAS, KRAS
34vibratory urticaria10.3HRAS, KRAS
35gastric adenocarcinoma10.3HRAS, KRAS
36epilepsy with generalized tonic-clonic seizures10.3HRAS, KRAS
37radioulnar synostosis10.3HRAS, KRAS
38pyoderma10.3HRAS, KRAS
39intrahepatic cholangiocarcinoma10.3HRAS, KRAS
40breast scirrhous carcinoma10.3HRAS, KRAS
41growth restriction, severe, with distinctive facies10.3HRAS, KRAS
42hemangioma of lung10.2HRAS, KRAS
43pterygium colli mental retardation digital anomalies10.2KRAS, NRAS
44early congenital syphilis10.2HRAS, KRAS
45rad51c-related fanconi anemia10.2KRAS, NRAS
46gastrointestinal neuroendocrine tumor10.2HRAS, KRAS
47periapical granuloma10.2HRAS, KRAS
48dental caries10.2HRAS, KRAS
49ovarian wilms' cancer10.2HRAS, KRAS
50pancreatic somatostatinoma10.2HRAS, 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:

 52 (show all 56)
  • prominent occiput
  • facial asymmetry
  • abnormality of the eye
  • abnormality of vision
  • telecanthus
  • microphthalmos
  • iris coloboma
  • melanocytic nevus
  • cavernous hemangioma
  • intellectual disability
  • seizures
  • muscular hypotonia
  • dandy-walker malformation
  • reduced tendon reflexes
  • hyperreflexia
  • plagiocephaly
  • growth delay
  • alopecia
  • frontal bossing
  • ventriculomegaly
  • porencephaly
  • eeg abnormality
  • cerebral calcification
  • genu recurvatum
  • vertebral segmentation defect
  • biparietal narrowing
  • aplasia/hypoplasia of the cerebellum
  • aplasia/hypoplasia of the corpus callosum
  • irregular hyperpigmentation
  • adenoma sebaceum
  • asymmetric growth
  • nevus
  • hyperpigmentation of the skin
  • hypopigmentation of the skin
  • spinal cord compression
  • spinal canal stenosis
  • atrophy of the spinal cord
  • progressive spastic paraparesis
  • pain
  • astigmatism
  • visual impairment
  • delayed speech and language development
  • global developmental delay
  • hypertonia
  • areflexia
  • thoracolumbar scoliosis
  • babinski sign
  • weakness of long finger extensor muscles
  • spinal cord tumor
  • lipoma
  • abnormality of brain morphology
  • polycystic kidney dysplasia
  • osteopenia
  • abnormal facial shape
  • rhabdomyosarcoma
  • vitamin d deficiency

HPO human phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

(show all 54)
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 overgrowth HP:0001548
42 alopecia HP:0001596
43 coarctation of aorta HP:0001680
44 abnormality of toe HP:0001780
45 basal cell carcinoma HP:0002671
46 kyphoscoliosis HP:0002751
47 recurrent fractures HP:0002757
48 short stature HP:0004322
49 hypophosphatemic rickets HP:0004912
50 abnormality of dental morphology HP:0006482
51 hemimegalencephaly HP:0007206
52 ichthyosis HP:0008064
53 nevus sebaceous HP:0010815
54 abnormality of dental color HP:0011073

UMLS symptoms related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:


seizures

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of KRN23 in Adult Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)Active, not recruitingNCT02304367Phase 2
2A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus SyndromeNot yet recruitingNCT02722798Phase 2

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


Cochrane evidence based reviews: nevus, sebaceous of jadassohn

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

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Genetic tests related to Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic:

id Genetic test Affiliating Genes
1 Epidermal Nevus Syndrome25
2 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic23 HRAS, KRAS, NRAS

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

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

34
Eye, Skin, Brain, Heart, Bone, Tongue, Spinal cord

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.9FGFR3, HRAS, KRAS, NRAS
2MP:00053828.9FGFR3, HRAS, KRAS, NRAS
3MP:00020068.8FGFR3, HRAS, KRAS, NRAS
4MP:00030128.8FGFR3, HRAS, KRAS, NRAS
5MP:00053888.6FGFR3, GNL3, HRAS, KRAS
6MP:00053787.7FGFR3, GNL3, HRAS, KRAS, NRAS

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:

68
id Symbol AA change Variation ID SNP ID
1HRASp.Gly13ArgVAR_068817rs104894228

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 variantPathogenicrs121913529GRCh37Chr 12, 25398284: 25398284
2NM_005343.3(HRAS): c.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs104894229GRCh37Chr 11, 534289: 534289
3NM_005343.3(HRAS): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs104894230GRCh37Chr 11, 534288: 534288
4NM_005343.3(HRAS): c.34G> T (p.Gly12Cys)single nucleotide variantPathogenicrs104894229GRCh37Chr 11, 534289: 534289
5NRASNM_002524.4(NRAS): c.182A> G (p.Gln61Arg)single nucleotide variantPathogenicrs11554290GRCh37Chr 1, 115256529: 115256529
6NM_005343.3(HRAS): c.182A> G (p.Gln61Arg)single nucleotide variantPathogenicrs121913233GRCh38Chr 11, 533874: 533874
7FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
8NM_005343.3(HRAS): c.37G> C (p.Gly13Arg)single nucleotide variantPathogenicrs104894228GRCh37Chr 11, 534286: 534286
9NRASNM_002524.4(NRAS): c.101C> T (p.Pro34Leu)single nucleotide variantPathogenicrs397514553GRCh37Chr 1, 115258681: 115258681
10NRASNM_002524.4(NRAS): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs121913237GRCh37Chr 1, 115258747: 115258747

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 101)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.9HRAS, KRAS, NRAS
28.9HRAS, KRAS, NRAS
3
Show member pathways
8.9HRAS, KRAS, NRAS
4
Show member pathways
8.9HRAS, KRAS, NRAS
58.9HRAS, KRAS, NRAS
68.9HRAS, KRAS, NRAS
7
Show member pathways
8.9HRAS, KRAS, NRAS
88.9HRAS, KRAS, NRAS
9
Show member pathways
8.9HRAS, KRAS, NRAS
108.9HRAS, KRAS, NRAS
118.9HRAS, KRAS, NRAS
128.9HRAS, KRAS, NRAS
13
Show member pathways
8.9HRAS, KRAS, NRAS
148.9HRAS, KRAS, NRAS
15
Show member pathways
8.9HRAS, KRAS, NRAS
168.9HRAS, KRAS, NRAS
178.9HRAS, KRAS, NRAS
188.9HRAS, KRAS, NRAS
198.9HRAS, KRAS, NRAS
20
Show member pathways
8.9HRAS, KRAS, NRAS
218.9HRAS, KRAS, NRAS
22
Show member pathways
8.9HRAS, KRAS, NRAS
23
Show member pathways
8.9HRAS, KRAS, NRAS
248.9HRAS, KRAS, NRAS
258.9HRAS, KRAS, NRAS
26
Show member pathways
8.9HRAS, KRAS, NRAS
27
Show member pathways
8.9HRAS, KRAS, NRAS
288.9HRAS, KRAS, NRAS
298.9HRAS, KRAS, NRAS
30
Show member pathways
8.9HRAS, KRAS, NRAS
31
Show member pathways
8.9HRAS, KRAS, NRAS
32
Show member pathways
8.9HRAS, KRAS, NRAS
33
Show member pathways
8.4FGFR3, HRAS, KRAS, NRAS
348.4FGFR3, HRAS, KRAS, NRAS
35
Show member pathways
8.4FGFR3, HRAS, KRAS, NRAS
36
Show member pathways
8.4FGFR3, HRAS, KRAS, NRAS
37
Show member pathways
8.4FGFR3, HRAS, KRAS, NRAS
388.4FGFR3, HRAS, KRAS, NRAS
39
Show member pathways
8.4FGFR3, HRAS, KRAS, NRAS
408.4FGFR3, HRAS, KRAS, NRAS
418.4FGFR3, HRAS, KRAS, NRAS
42
Show member pathways
8.4FGFR3, HRAS, KRAS, NRAS
438.4FGFR3, HRAS, KRAS, NRAS
448.4FGFR3, HRAS, KRAS, NRAS
458.4FGFR3, HRAS, KRAS, NRAS
46
Show member pathways
8.4FGFR3, HRAS, KRAS, NRAS
47
Show member pathways
8.4FGFR3, HRAS, KRAS, NRAS
488.4FGFR3, HRAS, KRAS, NRAS
498.4FGFR3, HRAS, KRAS, NRAS
50
Show member pathways
8.4FGFR3, HRAS, KRAS, NRAS

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 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAP kinase activityGO:00434069.9HRAS, KRAS
2positive regulation of MAPK cascadeGO:00434109.8FGFR3, HRAS
3regulation of long-term neuronal synaptic plasticityGO:00481699.6HRAS, KRAS
4Fc-epsilon receptor signaling pathwayGO:00380959.4HRAS, KRAS, NRAS
5stimulatory C-type lectin receptor signaling pathwayGO:00022239.3HRAS, KRAS, NRAS
6ERBB2 signaling pathwayGO:00381289.3HRAS, KRAS, NRAS
7epidermal growth factor receptor signaling pathwayGO:00071739.3HRAS, KRAS, NRAS
8social behaviorGO:00351769.2HRAS, KRAS
9leukocyte migrationGO:00509009.1HRAS, KRAS, NRAS
10Ras protein signal transductionGO:00072659.0HRAS, KRAS, NRAS
11positive regulation of cell proliferationGO:00082849.0FGFR3, HRAS, KRAS
12axon guidanceGO:00074118.9HRAS, KRAS, NRAS
13MAPK cascadeGO:00001658.7FGFR3, HRAS, KRAS, NRAS

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

idNameGO IDScoreTop Affiliating Genes
1GTPase activityGO:00039248.7GNL3, HRAS, KRAS
2GTP bindingGO:00055258.1GNL3, HRAS, KRAS, NRAS

Sources for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet