Schwartz-jampel syndrome, type 1

Preferred Label : Schwartz-jampel syndrome, type 1;

Symbol : SJS1;

CISMeF acronym : SJS; SJS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities; Chondrodystrophic myotonia; Schwartz-jampel-aberfeld syndrome; Sja syndrome; Schwartz-jampel syndrome; SJS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the perlecan gene (HSPG2, 142461.0001);

Prefixed ID : #255800;

Details

Origin ID

255800;

UMLS CUI

C4551479;

Automatic exact mappings (from CISMeF team)
- Chondrodystrophic myotonia [ICD-11 Subcategory]
- HSPG2 wt Allele [NCIt concept]
- STEVENS JOHNSON SYNDROME [WHO-ART Preferred Term]
- Schwartz Jampel syndrome [MedDRA Preferred Term]
- Schwartz-Jampel dwarfism [PASCAL descriptor]
- Schwartz-Jampel syndrome 1 [DO Concept]
- Stevens Johnson reaction [MedDRA LLT]
- Stevens-Johnson syndrome [MeSH concept]
- osteochondrodysplasias [MeSH Descriptor]
- stevens-johnson syndrome [MeSH Descriptor]
- stevens-johnson syndrome [SNOMED Notion]
- symbol withdrawn SJS1 [HGNC gene]
Currated CISMeF NLP mapping
- Myotonic chondrodystrophy [MeSH concept]
- Schwartz syndrome (disorder) [Inactive SNOMED CT concept]
- Schwartz-Jampel Syndrome [NCIt concept]
- Schwartz-Jampel syndrome [ORDO Disease]
- Schwartz-Jampel syndrome (disorder) [SNOMED CT concept]
- chondrodystrophic myotonia [Disease (Nov.)]
- schwartz syndrome [SNOMED Notion]
- schwartz-jampel syndrome [SNOMED Notion]
DO Cross reference
- Schwartz-Jampel syndrome 1 [DO Concept]
Genes related to phenotype
- Heparan sulfate proteoglycan of basement membrane [OMIM gene]
HPO term(s)
- Abnormality of femoral epiphysis [HPO term]
- Anterior bowing of long bones [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Cataract [HPO term]
- Congenital hip dislocation [HPO term]
- Coronal cleft vertebrae [HPO term]
- Coxa valga [HPO term]
- Coxa vara [HPO term]
- Decreased testicular size [HPO term]
- Delayed skeletal maturation [HPO term]
- Flat face [HPO term]
- Flexion contracture of toe [HPO term]
- Full cheeks [HPO term]
- Generalized hirsutism [HPO term]
- High pitched voice [HPO term]
- Hip contracture [HPO term]
- Hyporeflexia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Joint contracture of the hand [HPO term]
- Kyphoscoliosis [HPO term]
- Long eyelashes in irregular rows [HPO term]
- Low-set ears [HPO term]
- Lumbar hyperlordosis [HPO term]
- Malar flattening [HPO term]
- Malignant hyperthermia [HPO term]
- Metaphyseal widening [HPO term]
- Microcornea [HPO term]
- Micrognathia [HPO term]
- Muscle weakness [HPO term]
- Myopia [HPO term]
- Myotonia [HPO term]
- Narrow mouth [HPO term]
- Narrow palpebral fissure [HPO term]
- Osteoporosis [HPO term]
- Overfolded helix [HPO term]
- Pectus carinatum [HPO term]
- Pes planus [HPO term]
- Platyspondyly [HPO term]
- Ptosis [HPO term]
- Pursed lips [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Shoulder flexion contracture [HPO term]
- Skeletal muscle atrophy [HPO term]
- Skeletal muscle hypertrophy [HPO term]
- Talipes equinovarus [HPO term]
- Umbilical hernia [HPO term]
- Weak voice [HPO term]
- Weak, high-pitched voice [HPO term]
- Wrist flexion contracture [HPO term]
- contractures of the toes [HPO term]
ORDO concept(s)
- Schwartz-Jampel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myotonic chondrodystrophy [MeSH concept]
- Myotonic chondrodystrophy [ICD-9 code]
- Schwartz syndrome (disorder) [Inactive SNOMED CT concept]
- Schwartz-Jampel Syndrome [NCIt concept]
- Schwartz-Jampel syndrome [ORDO Disease]
- Schwartz-Jampel syndrome (disorder) [SNOMED CT concept]
- chondrodystrophic myotonia [Disease (Nov.)]
- schwartz syndrome [SNOMED Notion]
- schwartz-jampel syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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