Brachyolmia type 1, hobaek type

Preferred Label : Brachyolmia type 1, hobaek type;

Symbol : BCYM1A;

CISMeF acronym : BCYM1A;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Spondylodysplasia with pure brachyolmia; Brachyolmia, recessive type of hobaek;

Description : Rock et al. (2008) provided an overview of the brachyolmias, a heterogeneous group of skeletal dysplasias that affect primarily the spine. Type 1 brachyolmia includes the Hobaek and Toledo (271630) forms and is inherited in an autosomal recessive fashion. Both forms of type 1 are characterized by scoliosis, platyspondyly with rectangular and elongated vertebral bodies, overfaced pedicles, and irregular, narrow intervertebral spaces. The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Type 2 brachyolmia (613678), sometimes referred to as the Maroteaux type, is also an autosomal recessive disorder, primarily distinguished from type 1 by rounded vertebral bodies and less overfaced pedicles. Some cases are associated with precocious calcification of the falx cerebri. Type 3 brachyolmia (113500) is an autosomal dominant form, caused by mutation in the TRPV4 gene (605427), with severe kyphoscoliosis and flattened, irregular cervical vertebrae. Paradoxically, although the limbs are mildly shortened in all types of brachyolmia, they show minimal epiphyseal and metaphyseal abnormalities on radiographs. Type 4 brachyolmia (612847) is an autosomal recessive form, caused by mutation in the PAPSS2 gene (603005), with mild epiphyseal and metaphyseal changes.;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Elevated urine unsulfated chondroitin sulfate; Irregular distribution of chondrocytes, enlarged chondrocyte lacunae, excessive fibrous matrix, perilacunar loss of glycosaminoglycan, excessive collagen aggregation;

Prefixed ID : %271530;

Details

Origin ID

271530;

UMLS CUI

C1849055;

Automatic exact mappings (from CISMeF team)
- Brachyolmia type 1, Hobaek type [MedDRA LLT]
CISMeF manual mappings
- Brachyolmia - Hobaek type (disorder) [Inactive SNOMED CT concept]
Currated CISMeF NLP mapping
- Brachyolmia type 1, Hobaek type [ICD-11 More detail]
- Brachyolmia type 1, Hobaek type [ORDO Disease]
- brachyolmia type 1 Hobaek type [Disease (Nov.)]
- brachyolmia, recessive hobaek type [MeSH concept]
- brachyolmia, recessive hobaek type [MeSH Supplementary Concept]
DO Cross reference
- brachyolmia [DO Concept]
HPO term(s)
- Abnormality of the eye [HPO term]
- Autosomal recessive inheritance [HPO term]
- Back pain [HPO term]
- Corneal opacity [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Flat acetabular roof [HPO term]
- Flattened proximal radial epiphyses [HPO term]
- Horizontal acetabular roof [HPO term]
- Intervertebral space narrowing [HPO term]
- Kyphosis [HPO term]
- Mild osteopenia [HPO term]
- Osteopenia [HPO term]
- Pectus carinatum [HPO term]
- Sclerotic foci of metaphyses of the elbow [HPO term]
- Scoliosis [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short iliac bones [HPO term]
- Short long bone [HPO term]
- Short neck [HPO term]
- Short trunk [HPO term]
- Squared-off platyspondyly [HPO term]
- slightly short long bones [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
- Opacification of the corneal stroma [HPO term]
ORDO concept(s)
- Autosomal recessive brachyolmia [ORDO Disease]
- Brachyolmia type 1, Hobaek type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachyolmia type 1, Hobaek type [ORDO Disease]
- Brachyolmia type 1, Hobaek type [MedDRA LLT]
- brachyolmia type 1 Hobaek type [Disease (Nov.)]
- brachyolmia, recessive hobaek type [MeSH Supplementary Concept]
- brachyolmia, recessive hobaek type [MeSH concept]

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