MCID: CRN013
MIFTS: 42

Craniodiaphyseal Dysplasia malady

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

Aliases & Classifications for Craniodiaphyseal Dysplasia

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 29ICD10 via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Craniodiaphyseal Dysplasia:

Name: Craniodiaphyseal Dysplasia 11 46 23 13 52
 
Cdd 23

Characteristics:

Orphanet epidemiological data:

52
craniodiaphyseal dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

Disease Ontology11 DOID:0080032
Orphanet52 ORPHA1513
ICD10 via Orphanet29 M85.2
UMLS via Orphanet67 C0410539

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 schaefer stein oshman syndrome, and has symptoms including macrocephaly, abnormality of the mandible and coarse facial features. An important gene associated with Craniodiaphyseal Dysplasia is SOST (Sclerostin), and among its related pathways are N-cadherin signaling events and TGF Beta Signaling Pathway. Affiliated tissues include skull which decreases the size of cranium foramina and bone, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Wikipedia:69 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 diseases related to Craniodiaphyseal Dysplasia:



Diseases related to craniodiaphyseal dysplasia

Symptoms for Craniodiaphyseal Dysplasia

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Symptoms:

 52 (show all 13)
  • macrocephaly
  • coarse facial features
  • stenosis of the external auditory canal
  • conductive hearing impairment
  • wide nasal bridge
  • optic atrophy
  • abnormality of the ribs
  • intellectual disability
  • frontal bossing
  • short stature
  • craniofacial hyperostosis
  • diaphyseal thickening
  • depressed nasal bridge

HPO human phenotypes related to Craniodiaphyseal Dysplasia:

(show all 12)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 abnormality of the mandible hallmark (90%) HP:0000277
3 coarse facial features hallmark (90%) HP:0000280
4 abnormality of the ribs hallmark (90%) HP:0000772
5 frontal bossing hallmark (90%) HP:0002007
6 short stature hallmark (90%) HP:0004322
7 craniofacial hyperostosis hallmark (90%) HP:0004493
8 depressed nasal bridge hallmark (90%) HP:0005280
9 cognitive impairment hallmark (90%) HP:0100543
10 conductive hearing impairment typical (50%) HP:0000405
11 atresia of the external auditory canal typical (50%) HP:0000413
12 optic atrophy occasional (7.5%) HP:0000648

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 Dysplasia23

Anatomical Context for Craniodiaphyseal Dysplasia

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MalaCards organs/tissues related to Craniodiaphyseal Dysplasia:

34
Bone

FMA organs/tissues related to Craniodiaphyseal Dysplasia:

17
Skull which decreases the size of cranium foramina

Animal Models for Craniodiaphyseal Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Craniodiaphyseal Dysplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0CTNNB1, LRP6, WNT1, WNT3A
2MP:00053828.6CTNNB1, LRP5, LRP6, WNT1, WNT3A
3MP:00053808.4CTNNB1, LRP5, LRP6, WNT1, WNT3A
4MP:00028738.2CTNNB1, LDLR, LRP5, LRP6, SOST
5MP:00053718.1CTNNB1, LRP5, LRP6, SOST, WNT3A
6MP:00053907.8CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A
7MP:00036317.6CTNNB1, LDLR, LRP5, LRP6, WNT1, WNT3A
8MP:00053867.5CTNNB1, LDLR, LRP5, LRP6, WNT1, WNT3A

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
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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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 30)
idSuper pathwaysScoreTop Affiliating Genes
19.6CTNNB1, LRP5
29.4CTNNB1, WNT1
3
Show member pathways
9.2LRP5, LRP6, WNT3A
4
Show member pathways
9.1CTNNB1, SOST, WNT1
59.0CTNNB1, LRP6, WNT1
6
Show member pathways
9.0CTNNB1, WNT1, WNT3A
79.0CTNNB1, WNT1, WNT3A
89.0CTNNB1, WNT1, WNT3A
99.0CTNNB1, WNT1, WNT3A
10
Show member pathways
9.0CTNNB1, WNT1, WNT3A
11
Show member pathways
9.0CTNNB1, WNT1, WNT3A
129.0CTNNB1, WNT1, WNT3A
139.0CTNNB1, WNT1, WNT3A
149.0CTNNB1, WNT1, WNT3A
15
Show member pathways
9.0CTNNB1, WNT1, WNT3A
16
Show member pathways
8.9LRP5, LRP6, SOST, WNT3A
178.7LRP5, LRP6, WNT1, WNT3A
188.7CTNNB1, LRP5, LRP6, WNT3A
198.7CTNNB1, LRP5, LRP6, WNT3A
20
Show member pathways
8.7CTNNB1, LRP5, LRP6, WNT3A
21
Show member pathways
8.7CALCA, WNT1, WNT3A
228.6CTNNB1, LRP5, LRP6, WNT1
238.2CTNNB1, LRP5, LRP6, WNT1, WNT3A
24
Show member pathways
8.2CTNNB1, LRP5, LRP6, WNT1, WNT3A
258.2CTNNB1, LRP5, LRP6, WNT1, WNT3A
26
Show member pathways
7.8CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A
27
Show member pathways
7.8CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A
28
Show member pathways
7.8CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A
29
Show member pathways
7.6CTNNB1, LDLR, LRP5, LRP6, WNT1, WNT3A
30
Show member pathways
6.4CALCA, 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
1Wnt-Frizzled-LRP5/6 complexGO:19908519.9LRP5, LRP6, WNT3A
2endocytic vesicle membraneGO:00306669.8WNT1, WNT3A
3Wnt signalosomeGO:19909099.7CTNNB1, LRP5, LRP6
4receptor complexGO:00432359.5LDLR, LRP5, LRP6
5proteinaceous extracellular matrixGO:00055789.4SOST, WNT1, WNT3A
6cell surfaceGO:00099868.2LDLR, LRP6, WNT1, WNT3A
7extracellular regionGO:00055767.9CALCA, LRP6, SOST, WNT1, WNT3A

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

(show all 42)
idNameGO IDScoreTop Affiliating Genes
1Wnt signaling pathway involved in dorsal/ventral axis specificationGO:004433210.4LRP5, LRP6
2axis elongation involved in somitogenesisGO:009024510.3LRP6, WNT3A
3midbrain-hindbrain boundary developmentGO:003091710.2LRP6, WNT1
4response to peptide hormoneGO:004343410.2LRP5, LRP6
5negative regulation of protein serine/threonine kinase activityGO:007190110.2LRP5, LRP6
6cell proliferation in midbrainGO:003327810.2WNT1, WNT3A
7positive regulation of dermatome developmentGO:006118410.2WNT1, WNT3A
8bone developmentGO:006034810.2LRP5, WNT1
9spinal cord association neuron differentiationGO:002152710.2WNT1, WNT3A
10positive regulation of mesenchymal cell proliferationGO:000205310.1CTNNB1, LRP5
11embryonic digit morphogenesisGO:004273310.1CTNNB1, LRP5
12vasculature developmentGO:000194410.1CTNNB1, LRP5
13gastrulation with mouth forming secondGO:000170210.1CTNNB1, LRP5
14negative regulation of BMP signaling pathwayGO:003051410.0SOST, WNT1
15positive regulation of skeletal muscle tissue developmentGO:004864310.0CTNNB1, WNT3A
16regulation of cell differentiationGO:004559510.0CTNNB1, WNT3A
17neurogenesisGO:002200810.0WNT1, WNT3A
18dopaminergic neuron differentiationGO:007154210.0LRP6, WNT1
19negative regulation of fat cell differentiationGO:004559910.0WNT1, WNT3A
20canonical Wnt signaling pathway involved in negative regulation of apoptotic processGO:004433610.0CTNNB1, WNT1
21embryonic brain developmentGO:199040310.0CTNNB1, WNT1
22embryonic axis specificationGO:00005789.9CTNNB1, WNT1
23canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiationGO:19049549.9CTNNB1, WNT1
24cholesterol homeostasisGO:00426329.9LDLR, LRP5
25negative regulation of ossificationGO:00302799.9CALCA, SOST
26odontogenesis of dentin-containing toothGO:00424759.9CTNNB1, LRP6
27negative regulation of cell differentiationGO:00455969.8CTNNB1, WNT1
28cellular protein localizationGO:00346139.8CTNNB1, WNT3A
29branching involved in ureteric bud morphogenesisGO:00016589.8CTNNB1, WNT1
30Wnt signaling pathway involved in midbrain dopaminergic neuron differentiationGO:19049539.8LRP6, WNT1, WNT3A
31inner ear morphogenesisGO:00424729.7WNT1, WNT3A
32T cell differentiation in thymusGO:00330779.7CTNNB1, WNT1
33midbrain dopaminergic neuron differentiationGO:19049489.5CTNNB1, LRP6, WNT1
34midbrain developmentGO:00309019.4CTNNB1, WNT1, WNT3A
35positive regulation of canonical Wnt signaling pathwayGO:00902639.4LRP6, WNT1, WNT3A
36beta-catenin destruction complex disassemblyGO:19048868.7CTNNB1, LRP5, LRP6, WNT1, WNT3A
37positive regulation of sequence-specific DNA binding transcription factor activityGO:00510918.6CTNNB1, LRP5, LRP6, WNT1, WNT3A
38canonical Wnt signaling pathwayGO:00600708.5CTNNB1, LRP5, LRP6, WNT1, WNT3A
39positive regulation of cell proliferationGO:00082848.3CTNNB1, LRP5, WNT1, WNT3A
40positive regulation of transcription from RNA polymerase II promoterGO:00459448.2CTNNB1, LRP5, LRP6, WNT1, WNT3A
41positive regulation of transcription, DNA-templatedGO:00458938.1CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A
42Wnt signaling pathwayGO:00160557.8CTNNB1, LRP5, LRP6, SOST, 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:190492810.3LRP5, LRP6
2coreceptor activity involved in Wnt signaling pathwayGO:007193610.3LRP5, LRP6
3toxin transporter activityGO:001953410.3LRP5, LRP6
4Wnt-activated receptor activityGO:004281310.2LRP5, LRP6
5Wnt-protein bindingGO:001714710.0LRP5, LRP6
6receptor agonist activityGO:00480189.8WNT1, WNT3A
7low-density lipoprotein receptor activityGO:00050419.7LDLR, LRP6
8frizzled bindingGO:00051099.4LRP6, WNT1, WNT3A
9receptor bindingGO:00051028.8CALCA, LRP6, WNT3A

Sources for Craniodiaphyseal Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet