BCYM1A
MCID: BRC114
MIFTS: 17

Brachyolmia Type 1, Hobaek Type (BCYM1A)

Categories: Bone diseases

Aliases & Classifications for Brachyolmia Type 1, Hobaek Type

MalaCards integrated aliases for Brachyolmia Type 1, Hobaek Type:

Name: Brachyolmia Type 1, Hobaek Type 57
Spondylodysplasia with Pure Brachyolmia 57
Brachyolmia, Recessive Type of Hobaek 57
Brachyolmia, Recessive Hobaek Type 70
Bcym1a 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
brachyolmia type 1, hobaek type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Brachyolmia Type 1, Hobaek Type

OMIM® : 57 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 (BCYM1B; 271630) forms, which are 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 (BCYM2; 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 (BCYM3; 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 (BCYM4; 612847) is an autosomal recessive form, caused by mutation in the PAPSS2 gene (603005), with mild epiphyseal and metaphyseal changes. (271530) (Updated 05-Apr-2021)

MalaCards based summary : Brachyolmia Type 1, Hobaek Type, is also known as spondylodysplasia with pure brachyolmia. Affiliated tissues include eye and bone, and related phenotypes are scoliosis and kyphosis

Related Diseases for Brachyolmia Type 1, Hobaek Type

Symptoms & Phenotypes for Brachyolmia Type 1, Hobaek Type

Human phenotypes related to Brachyolmia Type 1, Hobaek Type:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 kyphosis 31 HP:0002808
3 short neck 31 HP:0000470
4 osteopenia 31 HP:0000938
5 pectus carinatum 31 HP:0000768
6 disproportionate short-trunk short stature 31 HP:0003521
7 back pain 31 HP:0003418
8 abnormality of the eye 31 HP:0000478
9 short long bone 31 HP:0003026
10 flat acetabular roof 31 HP:0003180
11 short femoral neck 31 HP:0100864
12 short iliac bones 31 HP:0100866
13 intervertebral space narrowing 31 HP:0002945
14 sclerotic foci of metaphyses of the elbow 31 HP:0003952
15 flattened proximal radial epiphyses 31 HP:0005004
16 squared-off platyspondyly 31 HP:0008418

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis
squared-off platyspondyly (infancy)
lateral extension of vertebral bodies beyond the pedicles
irregular vertebral end plates
more
Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Skeletal Limbs:
flattened proximal radial epiphyses
vertical linear mixed lucent and sclerotic pattern of metaphyses (distal radii and ulnae, femoral necks)
slightly short long bones

Skeletal:
mild osteopenia

Laboratory Abnormalities:
elevated urine unsulfated chondroitin sulfate
irregular distribution of chondrocytes, enlarged chondrocyte lacunae, excessive fibrous matrix, perilacunar loss of glycosaminoglycan, excessive collagen aggregation

Head And Neck Neck:
short neck

Skeletal Pelvis:
short femoral neck
short iliac bones
horizontal acetabular roof (puberty)

Growth Height:
normal birth length
short stature, disproportionate (short trunk), identifiable late childhood-early puberty

Head And Neck Eyes:
no corneal opacities

Clinical features from OMIM®:

271530 (Updated 05-Apr-2021)

Drugs & Therapeutics for Brachyolmia Type 1, Hobaek Type

Search Clinical Trials , NIH Clinical Center for Brachyolmia Type 1, Hobaek Type

Genetic Tests for Brachyolmia Type 1, Hobaek Type

Anatomical Context for Brachyolmia Type 1, Hobaek Type

MalaCards organs/tissues related to Brachyolmia Type 1, Hobaek Type:

40
Eye, Bone

Publications for Brachyolmia Type 1, Hobaek Type

Articles related to Brachyolmia Type 1, Hobaek Type:

# Title Authors PMID Year
1
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. 57
18587396 2008
2
Brachyolmia and spinal stenosis. 57
12833413 2003
3
Two sibs with brachyolmia type Hobaek: five year follow-up through puberty. 57
12476457 2003
4
Brachyolmia: radiographic and genetic evidence of heterogeneity. 57
2669482 1989
5
Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study. 57
6650565 1983
6
[Pure spondylar dysplasia or brachyolmy. Apropos of a case]. 57
816327 1975

Variations for Brachyolmia Type 1, Hobaek Type

Expression for Brachyolmia Type 1, Hobaek Type

Search GEO for disease gene expression data for Brachyolmia Type 1, Hobaek Type.

Pathways for Brachyolmia Type 1, Hobaek Type

GO Terms for Brachyolmia Type 1, Hobaek Type

Sources for Brachyolmia Type 1, Hobaek Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....