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:
24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 51 24
Epidermal Nevus Syndrome 24 53 69 26
Jadassohn Nevus Phakomatosis 47 24 69
Organoid Nevus Phakomatosis 47 69 67
Nevus Sebaceus of Jadassohn 47 53 69
Sfm Syndrome 47 24 69
Schimmelpenning-Feuerstein-Mims Syndrome 51 69
Linear Sebaceous Nevus Syndrome 24 69
Schimmelpenning Syndrome 53 69
Solomon Syndrome 53 69
Jnp 47 69
 
Schimmelpenning Feuerstein Mims Syndrome 47
Linear Nevus Sebaceous Syndrome 47
Sebaceous Nevus Syndrome Linear 47
Linear Nevus Sebaceus Syndrome 53
Nevus, Sebaceous of Jadassohn 38
Epidermal Hamartoma Syndrome 53
Nevus Sebaceus Syndrome 53
Organoid Nevus Syndrome 53
Nevus Sebaceous 67
Sfm 69
Ss 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
schimmelpenning-feuerstein-mims syndrome, somatic mosaic:
Inheritance: somatic mosaicism, sporadic

Classifications:



External Ids:

OMIM51 163200
ICD10 via Orphanet30 Q85.8
MESH via Orphanet39 C536114, D054000
UMLS via Orphanet68 C0334082
MedGen36 C0265318
MeSH38 D054000

Summaries for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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NIH Rare Diseases:47 Linear nevus sebaceous syndrome (LNSS) is a condition characterized by the association of a large, linear sebaceous nevus (type of birthmark) with a broad range of abnormalities that may affect every organ system, including the central nervous system (CNS). The nevus usually is located on the face, scalp, or neck. The most common CNS abnormalities are intellectual disability, seizures, and hemimegalencephaly (abnormal enlargement of one side of the brain). Various other CNS abnormalities have been reported. Other signs and symptoms may include various eye abnormalities; skeletal (bone) deformities; heart defects; urogenital abnormalities; and an increased risk of cancer with age. LNSS is not inherited (it is sporadic). It can be caused by a somatic mutation in any of several genes. Mutations that cause LNSS occur after fertilization and are only present in some body cells (mosaicism). Treatment is directed towards the specific symptoms in each person. Last updated: 1/4/2017

MalaCards based summary: Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic, also known as epidermal nevus syndrome, is related to epidermal nevus, somatic and segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, and has symptoms including prominent occiput, narrow forehead and telecanthus. An important gene associated with Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways are Ceramide Pathway and Negative regulation of MAPK pathway. Affiliated tissues include bone, eye and brain, and related mouse phenotypes are neoplasm and no phenotypic analysis.

UniProtKB/Swiss-Prot:69 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.

OMIM:51 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 135)
idRelated DiseaseScoreTop Affiliating Genes
1epidermal nevus, somatic30.3FGFR3, HRAS, KRAS, NRAS
2segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome12.0
3sickle cell anemia11.5
4sjogren's syndrome11.1
5didymosis aplasticosebacea11.0
6neutrophilic dermatosis, acute febrile10.8
7serotonin syndrome10.8
8mental retardation-hypotonic facies syndrome, x-linked10.8
9mental retardation smith fineman myers type10.8
10syringocystadenoma papilliferum10.4
11phacomatosis pigmentokeratotica10.3
12lupus erythematosus10.2
13adenoma10.2
14vagina sarcoma10.1HRAS, KRAS
15glomerulosclerosis10.1HRAS, KRAS
16gonococcal spondylitis10.1HRAS, KRAS
17myxosarcoma10.1HRAS, KRAS
18seminal vesicle chronic gonorrhea10.1HRAS, KRAS
19ureter adenocarcinoma10.1HRAS, KRAS
20trachea adenoid cystic carcinoma10.1HRAS, KRAS
21breast papillary carcinoma10.1HRAS, KRAS
22spindle epithelial tumor with thymus-like differentiation tumor10.1HRAS, KRAS
23uterine ligament serous adenocarcinoma10.1HRAS, KRAS
24appendix mucinous cystadenocarcinoma10.1HRAS, KRAS
25tabes dorsalis10.1HRAS, KRAS
26acanthoma10.1HRAS, KRAS
27migraine with aura10.1HRAS, KRAS
28ovarian serous adenofibroma10.1HRAS, KRAS
29advanced sleep phase syndrome10.1HRAS, KRAS
30papilloma10.1HRAS, KRAS
31rete testis neoplasm10.1HRAS, KRAS
32vibratory urticaria10.1HRAS, KRAS
33gastric adenocarcinoma10.1HRAS, KRAS
34epilepsy with generalized tonic-clonic seizures10.1HRAS, KRAS
35radioulnar synostosis10.1HRAS, KRAS
36pyoderma10.1HRAS, KRAS
37penis carcinoma in situ10.1FGFR3, HRAS
38intrahepatic cholangiocarcinoma10.1HRAS, KRAS
39breast scirrhous carcinoma10.1HRAS, KRAS
40growth restriction, severe, with distinctive facies10.1HRAS, KRAS
41hemangioma of lung10.1HRAS, KRAS
42early congenital syphilis10.1HRAS, KRAS
43gastrointestinal neuroendocrine tumor10.1HRAS, KRAS
44periapical granuloma10.0HRAS, KRAS
45systemic lupus erythematosus10.0
46cutaneous lupus erythematosus10.0
47dental caries10.0HRAS, KRAS
48ovarian wilms' cancer10.0HRAS, KRAS
49pancreatic somatostatinoma10.0HRAS, KRAS
50adult mesoblastic nephroma10.0FGFR3, HRAS

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

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

 63 53 (show all 82)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prominent occiput63 53 hallmark (90%) Very frequent (99-80%) HP:0000269
2 narrow forehead63 hallmark (90%) HP:0000341
3 telecanthus63 53 hallmark (90%) Very frequent (99-80%) HP:0000506
4 iris coloboma63 53 hallmark (90%) Very frequent (99-80%) HP:0000612
5 melanocytic nevus63 53 hallmark (90%) Very frequent (99-80%) HP:0000995
6 cavernous hemangioma63 53 hallmark (90%) Very frequent (99-80%) HP:0001048
7 seizures63 53 hallmark (90%) Very frequent (99-80%) HP:0001250
8 muscular hypotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001252
9 reduced tendon reflexes63 53 hallmark (90%) Very frequent (99-80%) HP:0001315
10 hyperreflexia63 53 hallmark (90%) Very frequent (99-80%) HP:0001347
11 frontal bossing63 53 hallmark (90%) Very frequent (99-80%) HP:0002007
12 eeg abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0002353
13 genu recurvatum63 53 hallmark (90%) Very frequent (99-80%) HP:0002816
14 vertebral segmentation defect63 53 hallmark (90%) Very frequent (99-80%) HP:0003422
15 aplasia/hypoplasia of the cerebellum63 53 hallmark (90%) Very frequent (99-80%) HP:0007360
16 aplasia/hypoplasia affecting the eye63 hallmark (90%) HP:0008056
17 adenoma sebaceum63 53 hallmark (90%) Very frequent (99-80%) HP:0009720
18 abnormal hair quantity63 hallmark (90%) HP:0011362
19 cognitive impairment63 hallmark (90%) HP:0100543
20 asymmetric growth63 53 hallmark (90%) Very frequent (99-80%) HP:0100555
21 facial asymmetry63 53 typical (50%) Frequent (79-30%) HP:0000324
22 plagiocephaly63 53 typical (50%) Frequent (79-30%) HP:0001357
23 porencephaly63 53 typical (50%) Frequent (79-30%) HP:0002132
24 irregular hyperpigmentation63 53 typical (50%) Frequent (79-30%) HP:0007400
25 dandy-walker malformation63 53 occasional (7.5%) Occasional (29-5%) HP:0001305
26 cerebral calcification63 53 occasional (7.5%) Occasional (29-5%) HP:0002514
27 aplasia/hypoplasia of the corpus callosum63 53 occasional (7.5%) Occasional (29-5%) HP:0007370
28 ophthalmoplegia63 rare (5%) HP:0000602
29 precocious puberty63 rare (5%) HP:0000826
30 hyperphosphaturia63 rare (5%) HP:0003109
31 corneal opacity63 rare (5%) HP:0007957
32 horseshoe kidney63 HP:0000085
33 cranial asymmetry63 HP:0000267
34 coloboma63 HP:0000589
35 osteopenia63 53 Very rare (<4-1%) HP:0000938
36 hypopigmentation of the skin63 53 Frequent (79-30%) HP:0001010
37 hemangioma63 HP:0001028
38 abnormality of finger63 HP:0001167
39 intellectual disability63 53 Very frequent (99-80%) HP:0001249
40 overgrowth63 HP:0001548
41 alopecia63 53 Very frequent (99-80%) HP:0001596
42 coarctation of aorta63 HP:0001680
43 abnormality of toe63 HP:0001780
44 basal cell carcinoma63 HP:0002671
45 kyphoscoliosis63 HP:0002751
46 recurrent fractures63 HP:0002757
47 short stature63 HP:0004322
48 hypophosphatemic rickets63 HP:0004912
49 abnormality of dental morphology63 HP:0006482
50 hemimegalencephaly63 HP:0007206
51 ichthyosis63 HP:0008064
52 nevus sebaceous63 HP:0010815
53 abnormality of dental color63 HP:0011073
54 abnormality of the eye53 Frequent (79-30%)
55 abnormality of vision53 Frequent (79-30%)
56 microphthalmia53 Very frequent (99-80%)
57 growth delay53 Occasional (29-5%)
58 ventriculomegaly53 Very frequent (99-80%)
59 biparietal narrowing53 Very frequent (99-80%)
60 nevus53 Very frequent (99-80%)
61 hyperpigmentation of the skin53 Frequent (79-30%)
62 spinal cord compression53 Frequent (79-30%)
63 spinal canal stenosis53 Frequent (79-30%)
64 atrophy of the spinal cord53 Frequent (79-30%)
65 progressive spastic paraparesis53 Frequent (79-30%)
66 pain53 Frequent (79-30%)
67 astigmatism53 Occasional (29-5%)
68 visual impairment53 Occasional (29-5%)
69 delayed speech and language development53 Occasional (29-5%)
70 global developmental delay53 Occasional (29-5%)
71 hypertonia53 Occasional (29-5%)
72 areflexia53 Occasional (29-5%)
73 thoracolumbar scoliosis53 Occasional (29-5%)
74 babinski sign53 Occasional (29-5%)
75 weakness of long finger extensor muscles53 Occasional (29-5%)
76 spinal cord tumor53 Occasional (29-5%)
77 lipoma53 Occasional (29-5%)
78 abnormality of brain morphology53 Occasional (29-5%)
79 polycystic kidney dysplasia53 Very rare (<4-1%)
80 abnormal facial shape53 Very rare (<4-1%)
81 rhabdomyosarcoma53 Very rare (<4-1%)
82 vitamin d deficiency53 Very rare (<4-1%)

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


seizures

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

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Drugs for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 21526
2ImmunoglobulinsPhase 26045
3Immunoglobulin GPhase 2265
4Antibodies, MonoclonalPhase 23795
5AntibodiesPhase 26045

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus SyndromeActive, not recruitingNCT02722798Phase 2
2Study of KRN23 in Adult Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)Active, not recruitingNCT02304367Phase 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 Syndrome26
2 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic24 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:

35
Bone, Eye, Brain, Tongue, Heart, Skin, 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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.4FGFR3, HRAS, KRAS, NRAS
2MP:00030128.4FGFR3, HRAS, KRAS, NRAS
3MP:00107718.3FGFR3, HRAS, KRAS, NRAS
4MP:00053828.3FGFR3, HRAS, KRAS, NRAS
5MP:00028738.3FGFR3, 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:

69
id Symbol AA change Variation ID SNP ID
1HRASp.Gly13ArgVAR_068817rs104894228

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

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1KRASNM_004985.4(KRAS): c.35G> A (p.Gly12Asp)SNVPathogenicrs121913529GRCh37Chr 12, 25398284: 25398284
2KRASNM_004985.4(KRAS): c.35G> T (p.Gly12Val)SNVPathogenicrs121913529GRCh37Chr 12, 25398284: 25398284
3HRASNM_005343.3(HRAS): c.35G> T (p.Gly12Val)SNVPathogenicrs104894230GRCh37Chr 11, 534288: 534288
4HRASNM_005343.3(HRAS): c.34G> A (p.Gly12Ser)SNVPathogenicrs104894229GRCh37Chr 11, 534289: 534289
5HRASNM_005343.3(HRAS): c.35G> A (p.Gly12Asp)SNVPathogenicrs104894230GRCh37Chr 11, 534288: 534288
6HRASNM_005343.3(HRAS): c.34G> T (p.Gly12Cys)SNVPathogenicrs104894229GRCh37Chr 11, 534289: 534289
7NRASNM_002524.4(NRAS): c.182A> G (p.Gln61Arg)SNVPathogenicrs11554290GRCh37Chr 1, 115256529: 115256529
8HRASNM_005343.3(HRAS): c.182A> G (p.Gln61Arg)SNVPathogenicrs121913233GRCh38Chr 11, 533874: 533874
9FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)SNVPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
10FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)SNV, HaplotypePathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
11FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)SNVPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
12HRASNM_005343.3(HRAS): c.37G> C (p.Gly13Arg)SNVPathogenicrs104894228GRCh37Chr 11, 534286: 534286
13NRASNM_002524.4(NRAS): c.101C> T (p.Pro34Leu)SNVPathogenicrs397514553GRCh37Chr 1, 115258681: 115258681
14NRASNM_002524.4(NRAS): c.35G> A (p.Gly12Asp)SNVPathogenicrs121913237GRCh37Chr 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 all 47)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.5HRAS, KRAS, NRAS
2
Show member pathways
8.5HRAS, KRAS, NRAS
38.5HRAS, KRAS, NRAS
48.5HRAS, KRAS, NRAS
58.5HRAS, KRAS, NRAS
6
Show member pathways
8.5HRAS, KRAS, NRAS
78.5HRAS, KRAS, NRAS
88.5HRAS, KRAS, NRAS
98.5HRAS, KRAS, NRAS
10
Show member pathways
8.5HRAS, KRAS, NRAS
118.5HRAS, KRAS, NRAS
128.5HRAS, KRAS, NRAS
13
Show member pathways
8.5HRAS, KRAS, NRAS
14
Show member pathways
8.5HRAS, KRAS, NRAS
15
Show member pathways
8.5HRAS, KRAS, NRAS
168.5HRAS, KRAS, NRAS
178.5HRAS, KRAS, NRAS
188.5HRAS, KRAS, NRAS
19
Show member pathways
8.5HRAS, KRAS, NRAS
20
Show member pathways
8.5HRAS, KRAS, NRAS
21
Show member pathways
8.5HRAS, KRAS, NRAS
228.5HRAS, KRAS, NRAS
238.5HRAS, KRAS, NRAS
248.5HRAS, KRAS, NRAS
25
Show member pathways
8.5HRAS, KRAS, NRAS
26
Show member pathways
8.5HRAS, KRAS, NRAS
27
Show member pathways
8.5HRAS, KRAS, NRAS
288.5HRAS, KRAS, NRAS
29
Show member pathways
8.5HRAS, KRAS, NRAS
308.5HRAS, KRAS, NRAS
31
Show member pathways
8.0FGFR3, HRAS, KRAS, NRAS
328.0FGFR3, HRAS, KRAS, NRAS
33
Show member pathways
8.0FGFR3, HRAS, KRAS, NRAS
34
Show member pathways
8.0FGFR3, HRAS, KRAS, NRAS
35
Show member pathways
8.0FGFR3, HRAS, KRAS, NRAS
368.0FGFR3, HRAS, KRAS, NRAS
378.0FGFR3, HRAS, KRAS, NRAS
388.0FGFR3, HRAS, KRAS, NRAS
398.0FGFR3, HRAS, KRAS, NRAS
408.0FGFR3, HRAS, KRAS, NRAS
418.0FGFR3, HRAS, KRAS, NRAS
42
Show member pathways
8.0FGFR3, HRAS, KRAS, NRAS
438.0FGFR3, HRAS, KRAS, NRAS
44
Show member pathways
8.0FGFR3, HRAS, KRAS, NRAS
458.0FGFR3, HRAS, KRAS, NRAS
46
Show member pathways
8.0FGFR3, HRAS, KRAS, NRAS
47
Show member pathways
8.0FGFR3, 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 MAPK cascadeGO:00434109.8FGFR3, HRAS
2positive regulation of MAP kinase activityGO:00434069.7HRAS, KRAS
3social behaviorGO:00351769.3HRAS, KRAS
4regulation of long-term neuronal synaptic plasticityGO:00481699.2HRAS, KRAS
5Fc-epsilon receptor signaling pathwayGO:00380959.0HRAS, KRAS, NRAS
6stimulatory C-type lectin receptor signaling pathwayGO:00022239.0HRAS, KRAS, NRAS
7ERBB2 signaling pathwayGO:00381289.0HRAS, KRAS, NRAS
8epidermal growth factor receptor signaling pathwayGO:00071738.9HRAS, KRAS, NRAS
9leukocyte migrationGO:00509008.8HRAS, KRAS, NRAS
10Ras protein signal transductionGO:00072658.7HRAS, KRAS, NRAS
11axon guidanceGO:00074118.6HRAS, KRAS, NRAS
12positive regulation of cell proliferationGO:00082848.5FGFR3, HRAS, KRAS
13MAPK cascadeGO:00001658.2FGFR3, HRAS, KRAS, NRAS

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

idNameGO IDScoreTop Affiliating Genes
1GTP bindingGO:00055258.5HRAS, KRAS, NRAS

Sources for Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet