MCID: CRN013
MIFTS: 21

Craniodiaphyseal Dysplasia malady

Summaries for Craniodiaphyseal Dysplasia

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Disease Ontology:8 An osteosclerosis that results in increased calcium concentration located in skull which decreases the size of cranium foramina and cervical spinal canal.

MalaCards: Craniodiaphyseal Dysplasia is related to camurati-engelmann disease and craniodiaphyseal dysplasia, autosomal dominant. An important gene associated with Craniodiaphyseal Dysplasia is SOST (sclerostin), and among its related pathways are TGF-beta Signaling Pathway and Colorectal Cancer Metastasis. The compounds 1,25 dihydroxy vitamin d3 and vitamin d have been mentioned in the context of this disorder. Affiliated tissues include skull which decreases the size of cranium foramina.

Wikipedia:64 Craniodiaphyseal dysplasia (also known as CDD or lionitis) is an extremely rare autosomal recessive bone... more...

Aliases & Classifications for Craniodiaphyseal Dysplasia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests
See all sources

Aliases & Descriptions:

craniodiaphyseal dysplasia 8 43 20


External Ids:

Disease Ontology8 DOID:0080032

Related Diseases for Craniodiaphyseal Dysplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Craniodiaphyseal Dysplasia:



Diseases related to craniodiaphyseal dysplasia

Clinical Features for Craniodiaphyseal Dysplasia

Drugs & Therapeutics for Craniodiaphyseal Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Craniodiaphyseal Dysplasia

Drug clinical trials:

Search ClinicalTrials for Craniodiaphyseal Dysplasia

Search NIH Clinical Center for Craniodiaphyseal Dysplasia

Search CenterWatch for Craniodiaphyseal Dysplasia

Genetic Tests for Craniodiaphyseal Dysplasia

Sources:
20GeneTests
See all sources

Genetic tests related to Craniodiaphyseal Dysplasia:

id Genetic test Affiliating Genes
1 Craniodiaphyseal Dysplasia20

Anatomical Context for Craniodiaphyseal Dysplasia

Sources:
14FMA
See all sources

FMA organs/tissues related to Craniodiaphyseal Dysplasia:

14
Skull which decreases the size of cranium foramina

Animal Models for Craniodiaphyseal Dysplasia or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Craniodiaphyseal Dysplasia

Sources:
51PubMed
See all sources

Articles related to Craniodiaphyseal Dysplasia:

(show all 20)
idTitleAuthorsYear
1
Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother. (23295610)
2012
2
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. (21221996)
2011
3
A boy with severe craniodiaphyseal dysplasia and apparently normal mother. (17853455)
2007
4
Craniodiaphyseal dysplasia: an unusual cause of recurrent dacryocystitis. (17456942)
2007
5
MR imaging features of craniodiaphyseal dysplasia. (14530887)
2004
6
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia? (14564212)
2003
7
Stenosis of the cervical canal in craniodiaphyseal dysplasia. (11341413)
2001
8
Intracranial and extracranial reduction osteoplasty for craniodiaphyseal dysplasia. (8827383)
1996
9
Craniodiaphyseal dysplasia; another cause of difficult intubation. (8732615)
1996
10
Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management. (8733453)
1996
11
Nasolacrimal obstruction and facial bone histopathology in craniodiaphyseal dysplasia. (8060945)
1994
12
Temporal bone findings in craniodiaphyseal dysplasia. (8172537)
1993
13
Management and outcome of two pregnancies in a woman with craniodiaphyseal dysplasia. (1987972)
1991
14
Craniodiaphyseal dysplasia. (2277386)
1990
15
Craniodiaphyseal dysplasia. Partial suppression of osteoblastic activity in the severe progressive form with calcitonin therapy. (3450859)
1987
16
Dominantly inherited craniodiaphyseal dysplasia: a new craniotubular dysplasia. (3802557)
1986
17
Camurati-Engelmann disease (progressive hereditary craniodiaphyseal dysplasia). Case report. (619016)
1978
18
Histologic, microradiographic and electron microscopic investigations of bone tissue in a case of craniodiaphyseal dysplasia. (139752)
1977
19
Craniodiaphyseal dysplasia. (1201347)
1975
20
Craniodiaphyseal dysplasia, a disease or group of diseases? (4823202)
1974

Genetic Variations for Craniodiaphyseal Dysplasia

Expression for genes affiliated with Craniodiaphyseal Dysplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Craniodiaphyseal Dysplasia

Search GEO for disease gene expression data for Craniodiaphyseal Dysplasia.

Pathways for genes affiliated with Craniodiaphyseal Dysplasia

Sources:
56SinoBiological, 52QIAGEN, 38NCBI BioSystems Database, 30KEGG, 53R&D Systems
See all sources

Pathways related to Craniodiaphyseal Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3TGFB1, SOST
29.1TGFB1, LRP5
39.1TGFB1, LRP5
4
Hide members
9.0LRP5, SOST

Compounds for genes affiliated with Craniodiaphyseal Dysplasia

Sources:
45Novoseek
See all sources

Compounds related to Craniodiaphyseal Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
11,25 dihydroxy vitamin d3459.1TGFB1, LRP5
2vitamin d458.4TGFB1, LRP5, SOST
3estrogen458.2TGFB1, LRP5, SOST

GO Terms for genes affiliated with Craniodiaphyseal Dysplasia

Sources:
16Gene Ontology
See all sources

Cellular components related to Craniodiaphyseal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055789.3TGFB1, SOST

Biological processes related to Craniodiaphyseal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of ossificationGO:0302799.2TGFB1, SOST
2Wnt receptor signaling pathwayGO:0160559.0LRP5, SOST
3positive regulation of transcription, DNA-dependentGO:0458938.2TGFB1, LRP5, SOST

Products for genes affiliated with Craniodiaphyseal Dysplasia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Craniodiaphyseal Dysplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet