MCID: CRN013
MIFTS: 40

Craniodiaphyseal Dysplasia 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 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 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 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:

 64 54 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000256
2 abnormality of the mandible64 hallmark (90%) HP:0000277
3 coarse facial features64 54 hallmark (90%) Very frequent (99-80%) HP:0000280
4 abnormality of the ribs64 54 hallmark (90%) Very frequent (99-80%) HP:0000772
5 frontal bossing64 54 hallmark (90%) Very frequent (99-80%) HP:0002007
6 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
7 craniofacial hyperostosis64 54 hallmark (90%) Very frequent (99-80%) HP:0004493
8 depressed nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0005280
9 cognitive impairment64 hallmark (90%) HP:0100543
10 conductive hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000405
11 atresia of the external auditory canal64 typical (50%) HP:0000413
12 optic atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0000648
13 stenosis of the external auditory canal54 Frequent (79-30%)
14 wide nasal bridge54 Very frequent (99-80%)
15 intellectual disability54 Very frequent (99-80%)
16 diaphyseal thickening54 Very frequent (99-80%)

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4CTNNB1, LRP6, WNT1, WNT3A
2MP:00053719.2CTNNB1, LRP5, LRP6, SOST, WNT3A
3MP:00053829.0CTNNB1, LRP5, LRP6, WNT1, WNT3A
4MP:00053809.0CTNNB1, LRP5, LRP6, WNT1, WNT3A
5MP:00028738.9CTNNB1, LDLR, LRP5, LRP6, SOST
6MP:00053868.4CTNNB1, LDLR, LRP5, LRP6, WNT1, WNT3A
7MP:00036318.3CTNNB1, LDLR, LRP5, LRP6, WNT1, WNT3A
8MP:00053907.8CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A

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
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 25)
idSuper pathwaysScoreTop Affiliating Genes
19.6CTNNB1, LRP5
29.4CTNNB1, WNT1
3
Show member pathways
9.2LRP5, LRP6, WNT3A
49.1CTNNB1, SOST, WNT1
59.0CTNNB1, LRP6, WNT1
6
Show member pathways
9.0CTNNB1, WNT1, WNT3A
79.0CTNNB1, WNT1, WNT3A
89.0CTNNB1, WNT1, WNT3A
9
Show member pathways
9.0CTNNB1, WNT1, WNT3A
109.0CTNNB1, WNT1, WNT3A
119.0CTNNB1, WNT1, WNT3A
129.0CTNNB1, WNT1, WNT3A
139.0CTNNB1, WNT1, WNT3A
14
Show member pathways
9.0CTNNB1, WNT1, WNT3A
15
Show member pathways
8.9LRP5, LRP6, SOST, WNT3A
168.7LRP5, LRP6, WNT1, WNT3A
17
Show member pathways
8.7CTNNB1, LRP5, LRP6, WNT3A
188.7CTNNB1, LRP5, LRP6, WNT3A
198.7CTNNB1, LRP5, LRP6, WNT3A
20
Show member pathways
8.7CALCA, WNT1, WNT3A
218.6CTNNB1, LRP5, LRP6, WNT1
228.2CTNNB1, LRP5, LRP6, WNT1, WNT3A
238.2CTNNB1, LRP5, LRP6, WNT1, WNT3A
24
Show member pathways
7.8CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A
25
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
1endocytic vesicle membraneGO:003066610.3WNT1, WNT3A
2proteinaceous extracellular matrixGO:00055789.7SOST, WNT1, WNT3A
3receptor complexGO:00432359.4LDLR, LRP5, LRP6
4Wnt signalosomeGO:19909099.3CTNNB1, LRP5, LRP6
5Wnt-Frizzled-LRP5/6 complexGO:19908519.2LRP5, LRP6, WNT3A
6cell surfaceGO:00099869.2LDLR, LRP6, WNT1, WNT3A
7extracellular regionGO:00055768.6CALCA, LRP6, SOST, WNT1, WNT3A

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

(show all 42)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of protein serine/threonine kinase activityGO:007190110.5LRP5, LRP6
2axis elongation involved in somitogenesisGO:009024510.4LRP6, WNT3A
3negative regulation of BMP signaling pathwayGO:003051410.4SOST, WNT1
4bone developmentGO:006034810.4LRP5, WNT1
5embryonic digit morphogenesisGO:004273310.3CTNNB1, LRP5
6gastrulation with mouth forming secondGO:000170210.3CTNNB1, LRP5
7positive regulation of mesenchymal cell proliferationGO:000205310.3CTNNB1, LRP5
8dopaminergic neuron differentiationGO:007154210.3LRP6, WNT1
9midbrain-hindbrain boundary developmentGO:003091710.3LRP6, WNT1
10response to peptide hormoneGO:004343410.3LRP5, LRP6
11odontogenesis of dentin-containing toothGO:004247510.3CTNNB1, LRP6
12cell proliferation in midbrainGO:003327810.3WNT1, WNT3A
13cellular protein localizationGO:003461310.3CTNNB1, WNT3A
14inner ear morphogenesisGO:004247210.3WNT1, WNT3A
15negative regulation of fat cell differentiationGO:004559910.3WNT1, WNT3A
16neurogenesisGO:002200810.3WNT1, WNT3A
17cholesterol homeostasisGO:004263210.2LDLR, LRP5
18positive regulation of dermatome developmentGO:006118410.2WNT1, WNT3A
19positive regulation of skeletal muscle tissue developmentGO:004864310.2CTNNB1, WNT3A
20branching involved in ureteric bud morphogenesisGO:000165810.2CTNNB1, WNT1
21canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiationGO:190495410.2CTNNB1, WNT1
22canonical Wnt signaling pathway involved in negative regulation of apoptotic processGO:004433610.2CTNNB1, WNT1
23embryonic axis specificationGO:000057810.2CTNNB1, WNT1
24embryonic brain developmentGO:199040310.2CTNNB1, WNT1
25negative regulation of cell differentiationGO:004559610.2CTNNB1, WNT1
26vasculature developmentGO:000194410.2CTNNB1, LRP5
27regulation of cell differentiationGO:004559510.1CTNNB1, WNT3A
28spinal cord association neuron differentiationGO:002152710.1WNT1, WNT3A
29negative regulation of ossificationGO:003027910.1CALCA, SOST
30T cell differentiation in thymusGO:003307710.0CTNNB1, WNT1
31Wnt signaling pathway involved in dorsal/ventral axis specificationGO:00443329.9LRP5, LRP6
32positive regulation of canonical Wnt signaling pathwayGO:00902639.8LRP6, WNT1, WNT3A
33midbrain dopaminergic neuron differentiationGO:19049489.8CTNNB1, LRP6, WNT1
34midbrain developmentGO:00309019.7CTNNB1, WNT1, WNT3A
35positive regulation of cell proliferationGO:00082849.3CTNNB1, LRP5, WNT1, WNT3A
36Wnt signaling pathway involved in midbrain dopaminergic neuron differentiationGO:19049539.1LRP6, WNT1, WNT3A
37beta-catenin destruction complex disassemblyGO:19048869.0CTNNB1, LRP5, LRP6, WNT1, WNT3A
38canonical Wnt signaling pathwayGO:00600709.0CTNNB1, LRP5, LRP6, WNT1, WNT3A
39positive regulation of sequence-specific DNA binding transcription factor activityGO:00510918.9CTNNB1, LRP5, LRP6, WNT1, WNT3A
40positive regulation of transcription from RNA polymerase II promoterGO:00459448.9CTNNB1, LRP5, LRP6, WNT1, WNT3A
41positive regulation of transcription, DNA-templatedGO:00458938.5CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A
42Wnt signaling pathwayGO:00160558.1CTNNB1, 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:190492810.4LRP5, LRP6
2coreceptor activity involved in Wnt signaling pathwayGO:007193610.4LRP5, LRP6
3toxin transporter activityGO:001953410.2LRP5, LRP6
4receptor agonist activityGO:004801810.1WNT1, WNT3A
5Wnt-activated receptor activityGO:004281310.1LRP5, LRP6
6low-density lipoprotein receptor activityGO:000504110.1LDLR, LRP6
7frizzled bindingGO:00051099.7LRP6, WNT1, WNT3A
8Wnt-protein bindingGO:00171479.7LRP5, LRP6
9receptor bindingGO:00051029.3CALCA, LRP6, 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