Pyle disease - CISMeF

Preferred Label : Pyle disease;

Symbol : PYL;

CISMeF acronym : PYL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Metaphyseal dysplasia, pyle type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the secreted frizzled-related protein-4 gene (SFRP4, 606570.0001);

Laboratory abnormalities : Elevated bone-specific alkaline phosphatase; Elevated osteocalcin; Elevated procollagen type 1 N-terminal propeptide (P1NP);

Prefixed ID : #265900;

Details

Origin ID

265900;

UMLS CUI

C0265294;

Automatic exact mappings (from CISMeF team)
- PYL(a) [MeSH Supplementary Concept]
- PYL(a) [MeSH concept]
- Pyle metaphyseal dysplasia [PASCAL descriptor]
- SFRP4 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Metaphyseal dysplasia [ICD-10 Sub-category]
- Metaphyseal dysplasia [ICD-10 Sub-category (who)]
- Metaphyseal dysplasia [HPO term]
- Metaphyseal dysplasia [MedDRA Preferred Term]
- Pyle disease [ICD-11 More detail]
- Pyle disease [MeSH concept]
- Pyle disease [ORDO Disease]
- Pyle metaphyseal dysplasia (disorder) [SNOMED CT concept]
- Pyle's disease [MedDRA LLT]
- metaphyseal dysplasia [Disease (Nov.)]
- metaphyseal dysplasia [DO Concept]
- pyle disease [MeSH Supplementary Concept]
- pyle metaphyseal dysplasia [SNOMED Notion]
Genes related to phenotype
- Secreted frizzled-related protein 4 [OMIM gene]
HPO term(s)
- Abnormal thorax morphology [HPO term]
- Absent paranasal sinuses [HPO term]
- Arthralgia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carious teeth [HPO term]
- Delayed eruption of teeth [HPO term]
- Genu valgum [HPO term]
- Hypoplastic frontal sinuses [HPO term]
- Limited elbow extension [HPO term]
- Mandibular prognathia [HPO term]
- Metaphyseal dysplasia [HPO term]
- Metaphyseal widening [HPO term]
- Muscle weakness [HPO term]
- Platyspondyly [HPO term]
- Reduced bone mineral density [HPO term]
- Scoliosis [HPO term]
- Thickened calvaria [HPO term]
ORDO concept(s)
- Pyle disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metaphyseal dysplasia [MedDRA Preferred Term]
- Metaphyseal dysplasia [ICD-10 Sub-category (who)]
- Metaphyseal dysplasia [ICD-10 Sub-category]
- Metaphyseal dysplasia [HPO term]
- Pyle disease [MeSH concept]
- Pyle disease [ORDO Disease]
- Pyle disease [ICD-11 More detail]
- Pyle metaphyseal dysplasia (disorder) [SNOMED CT concept]
- Pyle's disease [MedDRA LLT]
- metaphyseal dysplasia [DO Concept]
- metaphyseal dysplasia [Disease (Nov.)]
- pyle disease [MeSH Supplementary Concept]
- pyle metaphyseal dysplasia [SNOMED Notion]

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