CDD
MCID: CRN013
MIFTS: 42

Craniodiaphyseal Dysplasia (CDD) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Craniodiaphyseal Dysplasia

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Sources:
11Disease Ontology, 13DISEASES, 24GeneTests, 31ICD10 via Orphanet, 48NIH Rare Diseases, 54Orphanet, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Craniodiaphyseal Dysplasia:

Name: Craniodiaphyseal Dysplasia 11 48 24 54 13
 
Cdd 24

Characteristics:

Orphanet epidemiological data:

54
craniodiaphyseal dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

Disease Ontology11 DOID:0080032
Orphanet54 ORPHA1513
UMLS via Orphanet69 C0410539
ICD10 via Orphanet31 M85.2

Summaries for Craniodiaphyseal Dysplasia

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Disease Ontology:11 An osteosclerosis that results in increased calcium concentration located in skull which decreases the size of cranium foramina and cervical spinal canal.

MalaCards based summary: Craniodiaphyseal Dysplasia, also known as CDD, is related to craniodiaphyseal dysplasia, autosomal dominant and childhood disintegrative disease, and has symptoms including Array, Array and Array. An important gene associated with Craniodiaphyseal Dysplasia is SOST (Sclerostin), and among its related pathways are Dopaminergic Neurogenesis and Regulation of FZD by ubiquitination. Affiliated tissues include skull which decreases the size of cranium foramina and bone, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Wikipedia:71 Craniodiaphyseal dysplasia (also known as CDD or lionitis) is an extremely rare autosomal recessive bone... more...

Related Diseases for Craniodiaphyseal Dysplasia

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Graphical network of the top 20 diseases related to Craniodiaphyseal Dysplasia:



Diseases related to craniodiaphyseal dysplasia

Symptoms & Phenotypes for Craniodiaphyseal Dysplasia

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Human phenotypes related to Craniodiaphyseal Dysplasia:

 54 64 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly64 54 Very frequent (99-80%) HP:0000256
2 coarse facial features64 54 Very frequent (99-80%) HP:0000280
3 stenosis of the external auditory canal64 54 Frequent (79-30%) HP:0000402
4 conductive hearing impairment64 54 Frequent (79-30%) HP:0000405
5 wide nasal bridge64 54 Very frequent (99-80%) HP:0000431
6 optic atrophy64 54 Occasional (29-5%) HP:0000648
7 abnormality of the ribs64 54 Very frequent (99-80%) HP:0000772
8 intellectual disability64 54 Very frequent (99-80%) HP:0001249
9 frontal bossing64 54 Very frequent (99-80%) HP:0002007
10 short stature64 54 Very frequent (99-80%) HP:0004322
11 craniofacial hyperostosis64 54 Very frequent (99-80%) HP:0004493
12 diaphyseal thickening64 54 Very frequent (99-80%) HP:0005019
13 depressed nasal bridge64 54 Very frequent (99-80%) HP:0005280

MGI Mouse Phenotypes related to Craniodiaphyseal Dysplasia according to GeneCards Suite gene sharing:

41 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2CTNNB1, LRP6, WNT1, WNT3A
2MP:00053719.0CTNNB1, LRP5, LRP6, SOST, WNT3A
3MP:00053708.7CTNNB1, LDLR, LRP5, LRP6, TGFB1
4MP:00053818.7CTNNB1, LDLR, LRP6, TGFB1, WNT3A
5MP:00053888.7CTNNB1, LRP6, TGFB1, WNT1, WNT3A
6MP:00053698.6CTNNB1, LDLR, TGFB1, WNT1, WNT3A
7MP:00053828.4CTNNB1, LRP5, LRP6, TGFB1, WNT1, WNT3A
8MP:00053808.4CTNNB1, LRP5, LRP6, TGFB1, WNT1, WNT3A
9MP:00053788.0CTNNB1, LDLR, LRP5, LRP6, SOST, TGFB1
10MP:00053908.0CTNNB1, LRP5, LRP6, SOST, TGFB1, WNT1
11MP:00053917.9CTNNB1, LDLR, LRP5, LRP6, TGFB1
12MP:00053867.9CTNNB1, LDLR, LRP5, LRP6, TGFB1, WNT1
13MP:00036317.8CTNNB1, LDLR, LRP5, LRP6, TGFB1, WNT1

Drugs & Therapeutics for Craniodiaphyseal Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Craniodiaphyseal Dysplasia

Genetic Tests for Craniodiaphyseal Dysplasia

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Genetic tests related to Craniodiaphyseal Dysplasia:

id Genetic test Affiliating Genes
1 Craniodiaphyseal Dysplasia24

Anatomical Context for Craniodiaphyseal Dysplasia

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MalaCards organs/tissues related to Craniodiaphyseal Dysplasia:

36
Bone

FMA organs/tissues related to Craniodiaphyseal Dysplasia:

17
Skull which decreases the size of cranium foramina

Publications for Craniodiaphyseal Dysplasia

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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
Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management. (8733453)
1996
9
Craniodiaphyseal dysplasia; another cause of difficult intubation. (8732615)
1996
10
Intracranial and extracranial reduction osteoplasty for craniodiaphyseal dysplasia. (8827383)
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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Search GEO for disease gene expression data for Craniodiaphyseal Dysplasia.

Pathways for genes affiliated with Craniodiaphyseal Dysplasia

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Pathways related to Craniodiaphyseal Dysplasia according to GeneCards Suite gene sharing:

(show all 40)
idSuper pathwaysScoreTop Affiliating Genes
19.5TGFB1, WNT1
2
Show member pathways
9.3LRP5, LRP6, WNT3A
39.3CTNNB1, LRP5
49.2CTNNB1, WNT1
59.1TGFB1, WNT1, WNT3A
6
Show member pathways
9.0LRP5, LRP6, SOST, WNT3A
7
Show member pathways
9.0CALCA, WNT1, WNT3A
88.9CTNNB1, LRP5, LRP6
9
Show member pathways
8.9LRP5, LRP6, WNT1, WNT3A
108.9LRP5, LRP6, WNT1, WNT3A
118.8CTNNB1, LRP6, WNT1
12
Show member pathways
8.8CTNNB1, WNT1, WNT3A
138.8CTNNB1, WNT1, WNT3A
148.8CTNNB1, WNT1, WNT3A
158.8CTNNB1, WNT1, WNT3A
16
Show member pathways
8.8CTNNB1, WNT1, WNT3A
178.8CTNNB1, WNT1, WNT3A
188.7CTNNB1, TGFB1, WNT3A
19
Show member pathways
8.7CTNNB1, TGFB1, WNT1
208.7CTNNB1, TGFB1, WNT1
218.5CTNNB1, LRP5, LRP6, WNT1
228.5CTNNB1, LRP5, LRP6, WNT1
238.3CTNNB1, TGFB1, WNT1, WNT3A
24
Show member pathways
8.3CTNNB1, TGFB1, WNT1, WNT3A
258.3CTNNB1, TGFB1, WNT1, WNT3A
268.3CTNNB1, TGFB1, WNT1, WNT3A
27
Show member pathways
8.3CTNNB1, TGFB1, WNT1, WNT3A
288.3CTNNB1, TGFB1, WNT1, WNT3A
29
Show member pathways
8.1CTNNB1, LRP5, LRP6, WNT1, WNT3A
308.1CTNNB1, LRP5, LRP6, WNT1, WNT3A
31
Show member pathways
8.1CTNNB1, LRP5, LRP6, WNT1, WNT3A
32
Show member pathways
8.0CTNNB1, LRP5, LRP6, TGFB1, WNT3A
338.0CTNNB1, LRP5, LRP6, TGFB1, WNT3A
348.0CTNNB1, LRP5, LRP6, TGFB1, WNT1
35
Show member pathways
7.7CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A
36
Show member pathways
7.7CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A
377.7CTNNB1, LDLR, TGFB1, WNT1, WNT3A
387.5CTNNB1, LRP5, LRP6, TGFB1, WNT1, WNT3A
39
Show member pathways
7.2CTNNB1, LDLR, LRP5, LRP6, SOST, WNT1
40
Show member pathways
6.1CALCA, CTNNB1, LDLR, LRP5, LRP6, SOST

GO Terms for genes affiliated with Craniodiaphyseal Dysplasia

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Cellular components related to Craniodiaphyseal Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:00057969.7TGFB1, WNT1, WNT3A
2receptor complexGO:00432359.5LDLR, LRP5, LRP6
3Wnt-Frizzled-LRP5/6 complexGO:19908519.3LRP5, LRP6, WNT3A
4proteinaceous extracellular matrixGO:00055789.3SOST, TGFB1, WNT1, WNT3A
5Wnt signalosomeGO:19909099.0CTNNB1, LRP5, LRP6
6cell surfaceGO:00099869.0LDLR, LRP6, TGFB1, WNT1, WNT3A
7extracellular regionGO:00055768.5CALCA, LRP6, SOST, TGFB1, WNT1, WNT3A
8extracellular spaceGO:00056158.3CALCA, LDLR, SOST, TGFB1, WNT1, WNT3A

Biological processes related to Craniodiaphyseal Dysplasia according to GeneCards Suite gene sharing:

(show top 50)    (show all 55)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of protein serine/threonine kinase activityGO:007190110.5LRP5, LRP6
2axis elongation involved in somitogenesisGO:009024510.5LRP6, WNT3A
3negative regulation of BMP signaling pathwayGO:003051410.5SOST, WNT1
4dopaminergic neuron differentiationGO:007154210.4LRP6, WNT1
5midbrain-hindbrain boundary developmentGO:003091710.4LRP6, WNT1
6regulation of canonical Wnt signaling pathwayGO:006082810.4LRP5, LRP6
7cell proliferation in midbrainGO:003327810.4WNT1, WNT3A
8positive regulation of dermatome developmentGO:006118410.4WNT1, WNT3A
9positive regulation of receptor activityGO:200027310.4WNT1, WNT3A
10face morphogenesisGO:006032510.4LRP6, TGFB1
11mammary gland developmentGO:003087910.3TGFB1, WNT3A
12positive regulation of cardiac muscle cell differentiationGO:200072710.3TGFB1, WNT3A
13animal organ regenerationGO:003110010.3TGFB1, WNT1
14negative regulation of cell-cell adhesionGO:002240810.3TGFB1, WNT1
15positive regulation of fibroblast proliferationGO:004814610.3TGFB1, WNT1
16receptor-mediated endocytosis involved in cholesterol transportGO:009011810.3LDLR, LRP6
17response to radiationGO:000931410.2LRP5, TGFB1
18spinal cord association neuron differentiationGO:002152710.2WNT1, WNT3A
19gastrulation with mouth forming secondGO:000170210.1CTNNB1, LRP5
20positive regulation of mesenchymal cell proliferationGO:000205310.1CTNNB1, LRP5
21endocytosisGO:000689710.0LDLR, LRP5, LRP6
22positive regulation of canonical Wnt signaling pathwayGO:009026310.0LRP6, WNT1, WNT3A
23positive regulation of core promoter bindingGO:190479810.0CTNNB1, WNT3A
24positive regulation of skeletal muscle tissue developmentGO:004864310.0CTNNB1, WNT3A
25branching involved in ureteric bud morphogenesisGO:000165810.0CTNNB1, WNT1
26canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiationGO:190495410.0CTNNB1, WNT1
27canonical Wnt signaling pathway involved in negative regulation of apoptotic processGO:004433610.0CTNNB1, WNT1
28embryonic axis specificationGO:000057810.0CTNNB1, WNT1
29embryonic brain developmentGO:199040310.0CTNNB1, WNT1
30negative regulation of oxidative stress-induced neuron deathGO:190320410.0CTNNB1, WNT1
31epithelial to mesenchymal transitionGO:00018379.9CTNNB1, TGFB1
32Wnt signaling pathway involved in dorsal/ventral axis specificationGO:00443329.9LRP5, LRP6
33positive regulation of epithelial to mesenchymal transitionGO:00107189.9CTNNB1, TGFB1
34regulation of cell differentiationGO:00455959.9CTNNB1, WNT3A
35negative regulation of fat cell differentiationGO:00455999.9TGFB1, WNT1, WNT3A
36positive regulation of protein phosphorylationGO:00019349.8TGFB1, WNT1, WNT3A
37negative regulation of osteoclast differentiationGO:00456719.8CALCA, CTNNB1
38T cell differentiation in thymusGO:00330779.8CTNNB1, WNT1
39negative regulation of ossificationGO:00302799.8CALCA, SOST, TGFB1
40T cell differentiationGO:00302179.7CTNNB1, TGFB1
41midbrain dopaminergic neuron differentiationGO:19049489.6CTNNB1, LRP6, WNT1
42midbrain developmentGO:00309019.6CTNNB1, WNT1, WNT3A
43negative regulation of cell differentiationGO:00455969.5CTNNB1, TGFB1, WNT1
44regulation of apoptotic processGO:00429819.4CTNNB1, LRP5, TGFB1
45negative regulation of gene expressionGO:00106299.4CTNNB1, LDLR, TGFB1
46vasculature developmentGO:00019449.3CALCA, CTNNB1, LRP5
47Wnt signaling pathway involved in midbrain dopaminergic neuron differentiationGO:19049539.2LRP6, WNT1, WNT3A
48positive regulation of gene expressionGO:00106289.0CTNNB1, LDLR, TGFB1, WNT3A
49beta-catenin destruction complex disassemblyGO:19048868.9CTNNB1, LRP5, LRP6, WNT1, WNT3A
50canonical Wnt signaling pathwayGO:00600708.9CTNNB1, LRP5, LRP6, WNT1, WNT3A

Molecular functions related to Craniodiaphyseal Dysplasia according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1coreceptor activity involved in canonical Wnt signaling pathwayGO:190492810.4LRP5, LRP6
2coreceptor activity involved in Wnt signaling pathwayGO:007193610.4LRP5, LRP6
3receptor agonist activityGO:004801810.3WNT1, WNT3A
4low-density lipoprotein receptor activityGO:000504110.2LDLR, LRP6
5toxin transporter activityGO:001953410.2LRP5, LRP6
6Wnt-activated receptor activityGO:004281310.2LRP5, LRP6
7frizzled bindingGO:00051099.9LRP6, WNT1, WNT3A
8Wnt-protein bindingGO:00171479.8LRP5, LRP6
9receptor bindingGO:00051029.1CALCA, LRP6, WNT1, WNT3A

Sources for Craniodiaphyseal Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet