Bruck syndrome 1

Preferred Label : Bruck syndrome 1;

Symbol : BRKS1;

CISMeF acronym : BRKS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Arthrogryposis-like disorder; Kuskokwim disease;

Description : Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997). - Genetic Heterogeneity of Bruck Syndrome Bruck syndrome-2 (609220) is caused by homozygous mutation in the PLOD2 gene (601865) on chromosome 3q23-q24. Van der Slot et al. (2003) stated that they were unaware of any phenotypic differences between the 2 forms of Bruck syndrome.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the FK506-binding protein 10 gene (FKBP10, 607093.0002);

Prefixed ID : #259450;

Details

Origin ID

259450;

UMLS CUI

C1850168;

Automatic exact mappings (from CISMeF team)
- Bruck syndrome [ORDO Disease]
- Kuskokwim disease [MeSH concept]
- Kuskokwim syndrome [ORDO Disease]
- kuskokwim disease [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Bruck syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Bruck syndrome 1 [MeSH concept]
- bruck syndrome 1 [MeSH Supplementary Concept]
DO Cross reference
- Bruck syndrome [DO Concept]
Genes related to phenotype
- Fk506-binding protein 10 [OMIM gene]
HPO term(s)
- Ankle flexion contracture [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coxa vara [HPO term]
- Elbow flexion contracture [HPO term]
- Hip contracture [HPO term]
- Increased susceptibility to fractures [HPO term]
- Joint laxity [HPO term]
- Knee flexion contracture [HPO term]
- Kyphosis [HPO term]
- Osteoporosis [HPO term]
- Pectus carinatum [HPO term]
- Platyspondyly [HPO term]
- Protrusio acetabuli [HPO term]
- Pterygium [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Talipes equinovarus [HPO term]
- Vertebral wedging [HPO term]
Not associated HPO term(s)
- Abnormal sclera morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Hearing abnormality [HPO term]
ORDO concept(s)
- Bruck syndrome [ORDO Disease]
- Kuskokwim syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bruck syndrome 1 [MeSH concept]
- bruck syndrome 1 [MeSH Supplementary Concept]

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