OCBMD
MCID: OST172
MIFTS: 17

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 57 72 29 6
Ocbmd 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
osteochondrodysplasia, brachydactyly, and overlapping malformed digits:
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM® : 57 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) (Updated 20-May-2021)

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). Related phenotypes are pectus excavatum and postaxial polydactyly

UniProtKB/Swiss-Prot : 72 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...

Human phenotypes related to Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits:

31 (showing 13, show less)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 31 very rare (1%) HP:0000767
2 postaxial polydactyly 31 very rare (1%) HP:0100259
3 scoliosis 31 HP:0002650
4 brachydactyly 31 HP:0001156
5 patellar dislocation 31 HP:0002999
6 adducted thumb 31 HP:0001181
7 hallux valgus 31 HP:0001822
8 short thumb 31 HP:0009778
9 short hallux 31 HP:0010109
10 short distal phalanx of finger 31 HP:0009882
11 overlapping fingers 31 HP:0010557
12 mild short stature 31 HP:0003502
13 broad hallux 31 HP:0010055

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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...

Genetic tests related to Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits:

# Genetic test Affiliating Genes
1 Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits 29 CHST11

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

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

Articles related to Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits:

(showing 2, show less)
# Title Authors PMID Year
1
Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly. 57 6
29514872 2018
2
Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. 57
26436107 2015

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

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

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHST11 NM_018413.6(CHST11):c.482_496del (p.Leu161_Asn165del) Deletion Pathogenic 559505 rs1566067709 GRCh37: 12:105151000-105151014
GRCh38: 12:104757222-104757236

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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