Schimmelpenning-feuerstein-mims syndrome

Preferred Label : Schimmelpenning-feuerstein-mims syndrome;

Symbol : SFM;

CISMeF acronym : SFM; JNP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Jadassohn nevus phakomatosis; Linear sebaceous nevus syndrome; Sebaceous nevus syndrome, linear; Nevus sebaceus of jadassohn; Organoid nevus phakomatosis; Sfm syndrome; Epidermal nevus syndrome; JNP;

Description : 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).;

Inheritance : Somatic mosaicism;

Molecular basis : Caused by somatic mosaic mutation in the HRAS protooncogene, GTPase, gene (HRAS, 190020.0017); Caused by somatic mosaic mutation in the KRAS protooncogene, GTPase, gene (KRAS, 190070.0005);

Neoplasia : Basal cell carcinoma; Syringocystadenoma papilliferum; Central giant cell granuloma; Trichoblastoma;

Laboratory abnormalities : Phosphaturia (in some); Phosphaturia may disappear after a long period of time;

Prefixed ID : #163200;

Details

Origin ID

163200;

UMLS CUI

C4552097;

Automatic exact mappings (from CISMeF team)
- Epidermal nevus syndrome [MedDRA LLT]
- Linear sebaceous nevus syndrome [PASCAL descriptor]
- Organoid naevus syndrome [ICD-11 More detail]
- linear nevus sebaceous syndrome [DO Concept]
Currated CISMeF NLP mapping
- Epidermal nevus syndrome [PASCAL descriptor]
- Epidermal nevus syndrome [ORDO Disease]
- Epidermal nevus syndrome (disorder) [SNOMED CT concept]
- Linear nevus sebaceus syndrome [ORDO Disease]
- Naevus sebaceous of Jadassohn [MedDRA LLT]
- Nevus sebaceous of Jadassohn [MedDRA LLT]
- Organoid Nevus [NCIt concept]
- epidermal nevus syndrome [Disease (Nov.)]
- nevus, sebaceous of jadassohn [MeSH Descriptor]
- nevus, sebaceous of jadassohn [MeSH concept]
- organoid nevus phakomatosis [MeSH concept]
DO Cross reference
- linear nevus sebaceous syndrome [DO Concept]
False automatic mappings
- Atomic Force Microscope [NCIt concept]
Genes related to phenotype
- Hras protooncogene, gtpase [OMIM gene]
- Kras protooncogene, gtpase [OMIM gene]
- Nras protooncogene, gtpase [OMIM gene]
HPO term(s)
- Abnormality of dental color [HPO term]
- Abnormality of dental morphology [HPO term]
- Abnormality of finger [HPO term]
- Abnormality of toe [HPO term]
- Alopecia [HPO term]
- Basal cell carcinoma [HPO term]
- Coarctation of aorta [HPO term]
- Coloboma [HPO term]
- Corneal opacity [HPO term]
- Cranial asymmetry [HPO term]
- Growth delay [HPO term]
- Hemangioma [HPO term]
- Hemihypertrophy [HPO term]
- Hemimegalencephaly [HPO term]
- Horseshoe kidney [HPO term]
- Hyperphosphaturia [HPO term]
- Hypophosphatemic rickets [HPO term]
- Hypopigmentation of the skin [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Kyphoscoliosis [HPO term]
- Linear nevus sebaceous [HPO term]
- Nevus [HPO term]
- Nevus sebaceous [HPO term]
- Ophthalmoplegia [HPO term]
- Osteopenia [HPO term]
- Overgrowth [HPO term]
- Precocious puberty [HPO term]
- Recurrent fractures [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Somatic mosaicism [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Linear nevus sebaceus syndrome [ORDO Disease]
See also inter- (CISMeF)
- Linear sebaceous nevus sequence (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermal nevus syndrome [PASCAL descriptor]
- Epidermal nevus syndrome (disorder) [SNOMED CT concept]
- Linear nevus sebaceous [HPO term]
- Linear nevus sebaceus syndrome [ORDO Disease]
- Linear sebaceous nevus sequence (disorder) [SNOMED CT concept]
- Naevus sebaceous [MedDRA LLT]
- Naevus sebaceous of Jadassohn [MedDRA LLT]
- Nevus sebaceous [HPO term]
- Nevus sebaceous [MedDRA LLT]
- Nevus sebaceous (disorder) [SNOMED CT concept]
- Nevus sebaceous of Jadassohn [MedDRA LLT]
- Organoid Nevus [NCIt concept]
- Sebaceous naevus [MedDRA Preferred Term]
- Sebaceous nevus [PASCAL descriptor]
- epidermal nevus syndrome [Disease (Nov.)]
- linear sebaceous nevus sequence [SNOMED Notion]
- nevus, sebaceous of jadassohn [MeSH Descriptor]

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