MCID: PRM319
MIFTS: 14

Primary Bone Dysplasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Primary Bone Dysplasia

MalaCards integrated aliases for Primary Bone Dysplasia:

Name: Primary Bone Dysplasia 58
Primary Skeletal Dysplasia 58
Primary Osteodysplasia 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA364526

Summaries for Primary Bone Dysplasia

MalaCards based summary : Primary Bone Dysplasia, also known as primary skeletal dysplasia, is related to primary bone dysplasia with multiple joint dislocations and primary bone dysplasia with micromelia. An important gene associated with Primary Bone Dysplasia is SLC35B2 (Solute Carrier Family 35 Member B2). Affiliated tissues include bone and tongue.

Related Diseases for Primary Bone Dysplasia

Diseases related to Primary Bone Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 primary bone dysplasia with multiple joint dislocations 11.3
2 primary bone dysplasia with micromelia 11.1
3 primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments 11.1
4 primary bone dysplasia with defective bone mineralization 11.1
5 primary bone dysplasia with decreased bone density 11.1
6 primary bone dysplasia with increased bone density 11.1
7 primary bone dysplasia with disorganized development of skeletal components 11.1
8 dysplasia epiphysealis hemimelica with chondromas and osteochondromas 11.0
9 membranous cranial ossification, delayed 11.0
10 peripheral dysostosis 11.0
11 familial expansile osteolysis 11.0
12 spondyloepimetaphyseal dysplasia with hypotrichosis 11.0
13 ulna metaphyseal dysplasia syndrome 11.0
14 dyssegmental dysplasia, silverman-handmaker type 11.0
15 kenny-caffey syndrome, type 1 11.0
16 metaphyseal dysplasia, spahr type 11.0
17 ramon syndrome 11.0
18 rhizomelic syndrome 11.0
19 spondylometaepiphyseal dysplasia, short limb-hand type 11.0
20 spondyloperipheral dysplasia 11.0
21 thoracic dysplasia-hydrocephalus syndrome 11.0
22 spondyloepimetaphyseal dysplasia, x-linked 11.0
23 spondylometaphyseal dysplasia, x-linked 11.0
24 epiphyseal dysplasia, multiple, 2 11.0
25 rhizomelic dysplasia, patterson-lowry type 11.0
26 spondylometaphyseal dysplasia, type a4 11.0
27 czech dysplasia 11.0
28 spondyloepimetaphyseal dysplasia, genevieve type 11.0
29 handigodu joint disease 11.0
30 chondrodysplasia with joint dislocations, gpapp type 11.0
31 spondyloepimetaphyseal dysplasia with multiple dislocations 11.0
32 congenital disorder of glycosylation, type ia 9.9
33 congenital disorder of glycosylation, type in 9.9

Graphical network of the top 20 diseases related to Primary Bone Dysplasia:



Diseases related to Primary Bone Dysplasia

Symptoms & Phenotypes for Primary Bone Dysplasia

Drugs & Therapeutics for Primary Bone Dysplasia

Search Clinical Trials , NIH Clinical Center for Primary Bone Dysplasia

Genetic Tests for Primary Bone Dysplasia

Anatomical Context for Primary Bone Dysplasia

MalaCards organs/tissues related to Primary Bone Dysplasia:

40
Bone, Tongue

Publications for Primary Bone Dysplasia

Articles related to Primary Bone Dysplasia:

# Title Authors PMID Year
1
Craniofacial bone alterations in patients with neurofibromatosis type 1. 61
32583151 2020
2
Stüve-Wiedemann syndrome with multiple eruptive vellus hair cysts and clefted tongue. 61
31975458 2020
3
A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. 61
19766614 2009
4
Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia. 61
18203160 2008
5
Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not. 61
14597397 2003
6
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). 61
12939648 2003
7
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. 61
9083764 1997
8
The radiological spectrum of fibrodysplasia ossificans progressiva. 61
6811185 1982

Variations for Primary Bone Dysplasia

Expression for Primary Bone Dysplasia

Search GEO for disease gene expression data for Primary Bone Dysplasia.

Pathways for Primary Bone Dysplasia

GO Terms for Primary Bone Dysplasia

Sources for Primary Bone Dysplasia

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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