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MCID: SCH078
MIFTS: 59
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Schimmelpenning-Feuerstein-Mims Syndrome
Categories:
Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases
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MalaCards integrated aliases for Schimmelpenning-Feuerstein-Mims Syndrome:
Characteristics:Orphanet epidemiological data:59
linear nevus sebaceus syndrome
Inheritance: Not applicable; Age of onset: Childhood; Age of death: any age; OMIM:57
Inheritance:
somatic mosaicism
Miscellaneous:
onset of skin lesions at birth extracutaneous manifestations are variable secondary tumors develop within the skin lesions HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Skin diseases
ICD10:
34
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NIH Rare Diseases
:
53
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.
MalaCards based summary : Schimmelpenning-Feuerstein-Mims Syndrome, also known as nevus sebaceus of jadassohn, is related to nevus, epidermal and segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, and has symptoms including seizures An important gene associated with Schimmelpenning-Feuerstein-Mims Syndrome is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Cytokine Signaling in Immune system and CREB Pathway. The drugs Antibodies and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and brain, and related phenotypes are frontal bossing and intellectual disability OMIM : 57 Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001). (163200) UniProtKB/Swiss-Prot : 75 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. Wikipedia : 76 Nevus sebaceus or sebaceous nevus (the first term is its Latin name, the second term is its name in... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:163200Human phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome:59 32 (show top 50) (show all 56)
UMLS symptoms related to Schimmelpenning-Feuerstein-Mims Syndrome:seizures GenomeRNAi Phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome according to GeneCards Suite gene sharing:26 (show all 29)
MGI Mouse Phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome:46
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Drugs for Schimmelpenning-Feuerstein-Mims Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: nevus, sebaceous of jadassohn |
MalaCards organs/tissues related to Schimmelpenning-Feuerstein-Mims Syndrome:41
Bone,
Eye,
Brain,
Heart,
Tongue,
Skin,
Cerebellum
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Articles related to Schimmelpenning-Feuerstein-Mims Syndrome:(show all 25)
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Genes related to Schimmelpenning-Feuerstein-Mims Syndrome (3 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Schimmelpenning-Feuerstein-Mims Syndrome:75
ClinVar genetic disease variations for Schimmelpenning-Feuerstein-Mims Syndrome:6
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Search
GEO
for disease gene expression data for Schimmelpenning-Feuerstein-Mims Syndrome.
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Pathways related to Schimmelpenning-Feuerstein-Mims Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 126)
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Biological processes related to Schimmelpenning-Feuerstein-Mims Syndrome according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Schimmelpenning-Feuerstein-Mims Syndrome according to GeneCards Suite gene sharing:
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