Bcard syndrome

Preferred Label : Bcard syndrome;

Symbol : BCARD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lysyl hydroxylase 3 deficiency; Lh3 deficiency; Bone abnormalities, cataract, arterial rupture, and deafness;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 gene (PLOD3, 603066.0001);

Laboratory abnormalities : Abnormal urinary collagen-derived pyridinium crosslinks (absent Glc-Gal-PYD); Decreased serum glucosyltransferase (GGT) activity;

Prefixed ID : #612394;

Détails

Origin ID

612394;

UMLS CUI

C2676285;

Automatic exact mappings (from CISMeF team)
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- bone fragility with contractures, arterial rupture, and deafness [MeSH concept]
- bone fragility with contractures, arterial rupture, and deafness [MeSH Supplementary Concept]
Genes related to phenotype
- Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Anteverted nares [HPO term]
- Arterial rupture [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Cataract [HPO term]
- Coarse hair [HPO term]
- Decreased palmar creases [HPO term]
- Diaphragmatic eventration [HPO term]
- Dilatation of the cerebral artery [HPO term]
- Downturned corners of mouth [HPO term]
- Elbow flexion contracture [HPO term]
- Flat face [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hypoplasia of the capital femoral epiphysis [HPO term]
- Intrauterine growth retardation [HPO term]
- J-shaped sella turcica [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Myopia [HPO term]
- Nail dysplasia [HPO term]
- Osteopenia [HPO term]
- Pathologic fracture [HPO term]
- Platyspondyly [HPO term]
- Poorly formed pinnae [HPO term]
- Postnatal growth retardation [HPO term]
- Scoliosis [HPO term]
- Shallow orbits [HPO term]
- Short nose [HPO term]
- Talipes equinovarus [HPO term]
- Thenar muscle atrophy [HPO term]
Not associated HPO term(s)
- Abnormality of the dentition [HPO term]
ORDO concept(s)
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency [ORDO Disease]
- bone fragility with contractures, arterial rupture, and deafness [MeSH Supplementary Concept]
- bone fragility with contractures, arterial rupture, and deafness [MeSH concept]

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