OCBMD
MCID: OST172
MIFTS: 13

Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits (OCBMD)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed...

MalaCards integrated aliases for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits:

Name: Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits 58 76 6
Ocbmd 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
based on report of a large consanguineous pakistani pedigree (last curated october 2018)


Classifications:



External Ids:

OMIM 58 618167
MeSH 45 D010009

Summaries for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed...

OMIM : 58 Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018). (618167)

MalaCards based summary : Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits, is also known as ocbmd. An important gene associated with Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits is CHST11 (Carbohydrate Sulfotransferase 11). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 76 Osteochondrodysplasia, brachydactyly, and overlapping malformed digits: An autosomal recessive disorder characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum.

Related Diseases for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed...

Symptoms & Phenotypes for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed...

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis

Skeletal Feet:
brachydactyly
hallux valgus
short halluces
broad halluces
postaxial polydactyly (in some patients)
more
Chest External Features:
pectus excavatum (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
prominent clavicles (in some patients)

Skeletal Hands:
brachydactyly
adducted thumb
short thumb
hypoplastic distal phalanges
overlapping fingers (primarily third and fourth fingers)
more
Growth Height:
short stature, mild

Skeletal Limbs:
dislocated patellae
short distal long bones of lower limbs
short radii and ulnae
thinning of tibiae and fibulae
lateroventral displacement of fibulae

Clinical features from OMIM:

618167

Drugs & Therapeutics for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed...

Search Clinical Trials , NIH Clinical Center for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits

Genetic Tests for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed...

Anatomical Context for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed...

MalaCards organs/tissues related to Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits:

42
Bone

Publications for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed...

Variations for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed...

ClinVar genetic disease variations for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHST11 NM_001173982.1(CHST11): c.467_481del (p.Leu156_Asn160del) deletion Conflicting interpretations of pathogenicity GRCh37 Chromosome 12, 105151004: 105151018
2 CHST11 NM_001173982.1(CHST11): c.467_481del (p.Leu156_Asn160del) deletion Conflicting interpretations of pathogenicity GRCh38 Chromosome 12, 104757226: 104757240

Expression for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed...

Search GEO for disease gene expression data for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits.

Pathways for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed...

GO Terms for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed...

Sources for Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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