MCID: CRN013
MIFTS: 31

Craniodiaphyseal Dysplasia malady

Genetic diseases, Rare diseases, Bone diseases categories

Summaries for Craniodiaphyseal Dysplasia

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9Disease Ontology, 66Wikipedia, 34MalaCards
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Disease Ontology:9 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 Wnt Signaling Pathway. 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 and bone, and related mouse phenotypes are homeostasis/metabolism and growth/size/body.

Wikipedia:66 Craniodiaphyseal dysplasia (also known as CDD or lionitis) is an extremely rare autosomal recessive bone... more...

Aliases & Classifications for Craniodiaphyseal Dysplasia

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9Disease Ontology, 44NIH Rare Diseases, 21GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases


Aliases & Descriptions:

craniodiaphyseal dysplasia 9 44 21


External Ids:

Disease Ontology9 DOID:0080032

Related Diseases for Craniodiaphyseal Dysplasia

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Craniodiaphyseal Dysplasia:



Diseases related to craniodiaphyseal dysplasia

Symptoms for Craniodiaphyseal Dysplasia

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Drugs & Therapeutics for Craniodiaphyseal Dysplasia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Craniodiaphyseal Dysplasia

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21GeneTests
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Genetic tests related to Craniodiaphyseal Dysplasia:

id Genetic test Affiliating Genes
1 Craniodiaphyseal Dysplasia21

Anatomical Context for Craniodiaphyseal Dysplasia

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34MalaCards, 15FMA
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MalaCards organs/tissues related to Craniodiaphyseal Dysplasia:

34
Bone

FMA organs/tissues related to Craniodiaphyseal Dysplasia:

15
Skull which decreases the size of cranium foramina

Animal Models for Craniodiaphyseal Dysplasia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Craniodiaphyseal Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.5SOST, TGFB1, LRP5
2MP:00053788.2SOST, TGFB1, LRP5

Publications for Craniodiaphyseal Dysplasia

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53PubMed
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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

Variations for Craniodiaphyseal Dysplasia

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Expression for genes affiliated with Craniodiaphyseal Dysplasia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Craniodiaphyseal Dysplasia

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Pathways for genes affiliated with Craniodiaphyseal Dysplasia

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51PathCards, 58SinoBiological, 39NCBI BioSystems Database, 54QIAGEN, 55R&D Systems, 31KEGG
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Pathways related to Craniodiaphyseal Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3SOST, TGFB1
2
Show member pathways
DNA damage response (only ATM dependent)39
Wnt Signaling Pathway and Pluripotency39
9.1TGFB1, LRP5
39.1LRP5, TGFB1
49.1TGFB1, LRP5
5
Show member pathways
Wnt Signaling Pathway NetPath39
9.0SOST, LRP5

Compounds for genes affiliated with Craniodiaphyseal Dysplasia

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46Novoseek
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Compounds related to Craniodiaphyseal Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
11,25 dihydroxy vitamin d3469.1TGFB1, LRP5
2vitamin d468.4SOST, TGFB1, LRP5
3estrogen468.2SOST, TGFB1, LRP5

GO Terms for genes affiliated with Craniodiaphyseal Dysplasia

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17Gene Ontology
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Cellular components related to Craniodiaphyseal Dysplasia according to GeneCards/GeneDecks:

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

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of ossificationGO:0302799.4SOST, TGFB1
2positive regulation of transcription from RNA polymerase II promoterGO:0459449.1TGFB1, LRP5
3Wnt signaling pathwayGO:0160558.9LRP5, SOST
4positive regulation of cell proliferationGO:0082848.8TGFB1, LRP5
5positive regulation of transcription, DNA-templatedGO:0458938.5SOST, TGFB1, LRP5

Products for genes affiliated with Craniodiaphyseal Dysplasia

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Sources for Craniodiaphyseal Dysplasia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet