MCID: PRM334
MIFTS: 17

Primary Bone Dysplasia with Increased Bone Density

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Primary Bone Dysplasia with Increased Bone Density

MalaCards integrated aliases for Primary Bone Dysplasia with Increased Bone Density:

Name: Primary Bone Dysplasia with Increased Bone Density 58
Primary Skeletal Dysplasia with Increased Bone Density 58
Primary Osteodysplasia with Increased Bone Density 58
Sclerosing Bone Dysplasia 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA93444

Summaries for Primary Bone Dysplasia with Increased Bone Density

MalaCards based summary : Primary Bone Dysplasia with Increased Bone Density, also known as primary skeletal dysplasia with increased bone density, is related to sost-related sclerosing bone dysplasias and van buchem disease. Affiliated tissues include bone, skin and eye.

Related Diseases for Primary Bone Dysplasia with Increased Bone Density

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 sost-related sclerosing bone dysplasias 12.5
2 van buchem disease 12.4
3 sclerosteosis 1 11.8
4 osteopathia striata with cranial sclerosis 11.8
5 endosteal hyperostosis, autosomal dominant 11.7
6 sclerosteosis 11.7
7 lenz-majewski hyperostotic dwarfism 11.6
8 sclerosteosis 2 11.5
9 van buchem disease, type 2 11.3
10 melorheostosis with osteopoikilosis 11.3
11 melorheostosis, isolated 10.3
12 osteopetrosis 10.3
13 melorheostosis 10.3
14 osteopoikilosis 10.3
15 hyperostosis 10.3
16 pycnodysostosis 10.3
17 camurati-engelmann disease 10.2
18 exophthalmos 10.2
19 bone resorption disease 10.1
20 facial paralysis 10.1
21 overgrowth syndrome 10.1
22 craniometaphyseal dysplasia, autosomal dominant 10.0
23 osteoporosis 10.0
24 chromosome 2q35 duplication syndrome 10.0
25 dysosteosclerosis 10.0
26 dysplasia epiphysealis hemimelica 9.9
27 laryngomalacia 9.9
28 buschke-ollendorff syndrome 9.9
29 strabismus 9.9
30 craniodiaphyseal dysplasia 9.9
31 myelofibrosis 9.9
32 3-methylglutaconic aciduria, type iii 9.9
33 raine syndrome 9.9
34 pyle disease 9.9
35 hypophosphatemic rickets, x-linked recessive 9.9
36 ribbing disease 9.9
37 bone mineral density quantitative trait locus 8 9.9
38 bone mineral density quantitative trait locus 15 9.9
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
40 sleep apnea 9.9
41 adrenal cortical adenoma 9.9
42 adenoid hypertrophy 9.9
43 tracheomalacia 9.9
44 sensorineural hearing loss 9.9
45 rickets 9.9
46 microphthalmia 9.9
47 microcephaly 9.9
48 bell's palsy 9.9
49 radiculopathy 9.9
50 erdheim-chester disease 9.9

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



Diseases related to Primary Bone Dysplasia with Increased Bone Density

Symptoms & Phenotypes for Primary Bone Dysplasia with Increased Bone Density

Drugs & Therapeutics for Primary Bone Dysplasia with Increased Bone Density

Search Clinical Trials , NIH Clinical Center for Primary Bone Dysplasia with Increased Bone Density

Genetic Tests for Primary Bone Dysplasia with Increased Bone Density

Anatomical Context for Primary Bone Dysplasia with Increased Bone Density

MalaCards organs/tissues related to Primary Bone Dysplasia with Increased Bone Density:

40
Bone, Skin, Eye, Testes

Publications for Primary Bone Dysplasia with Increased Bone Density

Articles related to Primary Bone Dysplasia with Increased Bone Density:

(show top 50) (show all 95)
# Title Authors PMID Year
1
An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia. 61
31970420 2020
2
Management of early-onset hip osteoarthritis in an adolescent patient with osteopetrosis tarda: a case report. 61
30585879 2019
3
Osteoma-like melorheostosis: a rare type of skeletal dysplasia depicted on FDG PET/CT. 61
30680447 2019
4
Melorheostosis: a rare sclerosing bone dysplasia. Usefulness of bone scintigraphy. 61
30975488 2019
5
Melorheostosis with an associated para-articular enhancing soft tissue mass. 61
30825667 2019
6
Remodelling of Humeral Fracture in a Child with Osteopetrosis Tarda following Conservative Management - A 7-year Follow-up: A Case Report. 61
31467651 2019
7
Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency. 61
31061753 2019
8
Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis. 61
30989250 2019
9
Camurati-Engelmann Disease. 61
30721323 2019
10
High bone mass in adults. 61
29407041 2018
11
Melorheostosis of a rib. 61
29997717 2018
12
Imaging features and differential diagnosis of multiple diaphyseal sclerosis: A case report and review of literature. 61
30113457 2018
13
Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features. 61
29885186 2018
14
Genetic and Molecular Insights Into Genotype-Phenotype Relationships in Osteopathia Striata With Cranial Sclerosis (OSCS) Through the Analysis of Novel Mouse Wtx Mutant Alleles. 61
29329488 2018
15
Melorheostosis: a Rare Sclerosing Bone Dysplasia. 61
28676968 2017
16
Autosomal recessive osteopetrosis with a unique imaging finding: multiple encephaloceles. 61
28233026 2017
17
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia. 61
25180662 2014
18
Pycnodysostosis: A bone dysplasia with unusual oral manifestation. 61
25565757 2014
19
Hyperostotic bone disease in a wombat (Vombatus ursinus). 61
24856454 2014
20
Osteomesopyknosis: a case report and review of sclerosing bone disorders. 61
24641920 2014
21
A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma. 61
24459086 2014
22
Neurophysiologic, audiometric and vestibular function tests in patients with hyperostosis cranialis interna. 61
23622937 2013
23
Localization of the gene for hyperostosis cranialis interna to chromosome 8p21 with analysis of three candidate genes. 61
23640157 2013
24
Inhibition of TGF-β signaling at the nuclear envelope: characterization of interactions between MAN1, Smad2 and Smad3, and PPM1A. 61
23779087 2013
25
[Intramedullary reaming in Ribbing disease]. 61
23746922 2013
26
Traumatic Fracture in a patient of Osteopoikilosis with Review of Literature. 61
27298900 2013
27
Familial osteopoikilosis. 61
23893138 2013
28
A novel sclerosing skeletal dysplasia with mixed sclerosing bone dysplasia, characteristic syndromic features, and clinical and radiographic evidence of male-male transmission. 61
22821701 2012
29
Imaging features and progression of hyperostosis cranialis interna. 61
22194361 2012
30
Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis. 61
22084176 2011
31
Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis. 61
20950377 2011
32
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. 61
21221996 2011
33
Osteopoikilosis associated with fibromyalgia and active myofascial trigger point in upper trapezius muscles. 61
22142715 2011
34
[Melorheostosis of the hand in a pediatric patient]. 61
21132236 2010
35
The WTX/AMER1 gene family: evolution, signature and function. 61
20843316 2010
36
A case report of dysosteosclerosis observed from the prenatal period. 61
23926380 2010
37
Expression patterns of the Wtx/Amer gene family during mouse embryonic development. 61
20503382 2010
38
Pediatric genitourinary tumors. 61
20168230 2010
39
A new familial sclerosing bone dysplasia. 61
20422625 2010
40
[Pleural empyema revealing osteopoikilosis]. 61
19953050 2009
41
Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. 61
19250384 2009
42
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. 61
19079258 2009
43
Glenoid labrum ossification and mechanical restriction of joint motion: extraosseous manifestations of melorheostosis. 61
18030463 2008
44
Orthopaedic management of the patient with osteopetrosis. 61
17989416 2007
45
Melorheostosis: report of two cases affecting the jaw. 61
17706442 2007
46
Osteopoikilosis in a patient with rheumatoid arthritis complicated with dry eyes. 61
17393171 2007
47
A Japanese patient with a mild Lenz-Majewski syndrome. 61
17593321 2007
48
Metaphyseal dysplasia of Braun-Tinschert type: report of a Japanese girl. 61
16691581 2006
49
Unusual case of mixed sclerosing bone dysplasia in a 3.5-year-old boy. 61
17338138 2006
50
Osteopoikilosis in an ancient skeleton: more than a medical curiosity. 61
15827685 2005

Variations for Primary Bone Dysplasia with Increased Bone Density

Expression for Primary Bone Dysplasia with Increased Bone Density

Search GEO for disease gene expression data for Primary Bone Dysplasia with Increased Bone Density.

Pathways for Primary Bone Dysplasia with Increased Bone Density

GO Terms for Primary Bone Dysplasia with Increased Bone Density

Sources for Primary Bone Dysplasia with Increased Bone Density

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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