MCID: CRN013
MIFTS: 41

Craniodiaphyseal Dysplasia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Craniodiaphyseal Dysplasia

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
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Aliases & Descriptions for Craniodiaphyseal Dysplasia:

Name: Craniodiaphyseal Dysplasia 10 45 22 12 51
 
Cdd 22


Classifications:



Characteristics (Orphanet epidemiological data):

51
craniodiaphyseal dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Disease Ontology10 DOID:0080032
Orphanet51 1513
ICD10 via Orphanet28 M85.2
UMLS via Orphanet66 C0410539

Summaries for Craniodiaphyseal Dysplasia

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Disease Ontology:10 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 pigmentation and liver/biliary system.

Wikipedia:68 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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Diseases in the Craniodiaphyseal Dysplasia family:

Craniodiaphyseal Dysplasia, Autosomal Dominant

Diseases related to Craniodiaphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1craniodiaphyseal dysplasia, autosomal dominant10.7
2childhood disintegrative disease10.4
3schaefer stein oshman syndrome10.4
4camurati-engelmann disease10.2
5cervicitis10.2
6dacryocystitis10.2
7weill-marchesani syndrome 2, dominant10.1LRP5, SOST
8ichthyosis with confetti10.1LRP5, SOST
9hyperparathyroidism10.1LRP5, SOST
10glucocorticoid therapy, response to10.0
11multiple myeloma10.0
12peripheral vascular disease10.0
13hematologic cancer10.0
14extramedullary plasmacytoma10.0
15refractory plasma cell neoplasm10.0
16central nervous system hematologic cancer10.0
17autonomic nervous system disease10.0
18autonomic nervous system neoplasm10.0
19blood protein disease10.0
20central nervous system cancer10.0
21hypersensitivity reaction type iv disease10.0
22myeloma10.0
23nervous system cancer10.0
24peripheral nervous system neoplasm10.0
25pervasive developmental disorder10.0
26plasma cell neoplasm10.0
27plasmacytoma10.0
28refractory hematologic cancer10.0
29vascular cancer10.0
30vascular hemostatic disease10.0
31factor v leiden thrombophilia10.0
32anaplastic plasmacytoma10.0
33sclerocornea10.0LRP5, LRP6, SOST
34ichthyosiform erythroderma, corneal involvement, deafness9.9LRP5, WNT3A
35ureter inverted papilloma9.8CALCA, LRP5
36spastic cerebral palsy9.8LRP5, LRP6, SOST, WNT3A
37osteoporosis-pseudoglioma syndrome9.8CTNNB1, LDLR, LRP5
38bone resorption disease9.8CALCA, LRP5, SOST
39bone structure disease9.6CALCA, CTNNB1, LRP5, SOST
40duane retraction syndrome9.6CALCA, LRP5, WNT1, WNT3A
41osteoporosis9.2CALCA, CTNNB1, LRP5, LRP6, SOST, WNT1
42pleural tuberculosis8.8CALCA, CTNNB1, LDLR, LRP5, LRP6, SOST

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



Diseases related to craniodiaphyseal dysplasia

Symptoms for Craniodiaphyseal Dysplasia

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Symptoms:

 51 (show all 15)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • frontal bossing/prominent forehead
  • coarse face
  • enlargment of jaw/large jaw
  • broad nose/nasal bridge
  • depressed nasal bridge
  • rib structure anomalies
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • enlarged diaphysis/diaphyses
  • short stature/dwarfism/nanism
  • external auditory canal atresia/stenosis/agenesis
  • conductive deafness/hearing loss
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • autosomal dominant inheritance

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 Dysplasia22

Anatomical Context for Craniodiaphyseal Dysplasia

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MalaCards organs/tissues related to Craniodiaphyseal Dysplasia:

33
Bone

FMA organs/tissues related to Craniodiaphyseal Dysplasia:

16
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:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5CTNNB1, LDLR, LRP5
2MP:00053708.9CTNNB1, LDLR, LRP5, LRP6
3MP:00053718.7CTNNB1, LRP5, LRP6, SOST, WNT3A
4MP:00053828.6CTNNB1, LRP5, LRP6, WNT1, WNT3A
5MP:00053778.1CALCA, CTNNB1, LRP6, WNT1, WNT3A
6MP:00053787.9CTNNB1, LDLR, LRP5, LRP6, SOST, WNT3A
7MP:00053887.8CALCA, CTNNB1, LRP6, WNT1, WNT3A
8MP:00028737.8CALCA, CTNNB1, LDLR, LRP5, LRP6, SOST
9MP:00053807.6CALCA, CTNNB1, LRP5, LRP6, WNT1, WNT3A
10MP:00053907.4CALCA, CTNNB1, LRP5, LRP6, SOST, WNT1
11MP:00107686.9CALCA, CTNNB1, LDLR, LRP5, LRP6, WNT1
12MP:00036316.7CALCA, CTNNB1, LDLR, LRP5, LRP6, WNT1
13MP:00053866.4CALCA, CTNNB1, LDLR, LRP5, LRP6, WNT1

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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Clinvar genetic disease variations for Craniodiaphyseal Dysplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SOSTNM_025237.2(SOST): c.61G> A (p.Val21Met)single nucleotide variantPathogenicrs387907169GRCh37Chr 17, 41836049: 41836049
2SOSTSOST, VAL21LEUsingle nucleotide variantPathogenic

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 pathways (with members indented)ScoreTop 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
69.0CTNNB1, WNT1, WNT3A
7
Show member pathways
9.0CTNNB1, WNT1, WNT3A
8
Show member pathways
9.0CTNNB1, WNT1, WNT3A
99.0CTNNB1, WNT1, WNT3A
109.0CTNNB1, WNT1, WNT3A
11
Show member pathways
9.0CTNNB1, WNT1, WNT3A
129.0CTNNB1, WNT1, WNT3A
139.0CTNNB1, WNT1, WNT3A
14
Show member pathways
9.0CTNNB1, WNT1, WNT3A
159.0CTNNB1, WNT1, WNT3A
16
Show member pathways
8.9LRP5, LRP6, SOST, WNT3A
178.7LRP5, LRP6, WNT1, WNT3A
18
Show member pathways
8.7CTNNB1, LRP5, LRP6, WNT3A
198.7CTNNB1, LRP5, LRP6, WNT3A
208.7CTNNB1, LRP5, LRP6, WNT3A
21
Show member pathways
8.7CALCA, WNT1, WNT3A
228.6CTNNB1, LRP5, LRP6, WNT1
238.4CTNNB1, LDLR, WNT1, WNT3A
24
Show member pathways
8.2CTNNB1, LRP5, LRP6, WNT1, WNT3A
258.2CTNNB1, LRP5, LRP6, WNT1, WNT3A
268.2CTNNB1, LRP5, LRP6, WNT1, WNT3A
27
Show member pathways
7.8CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A
28
Wnt signaling pathway (KEGG)
Show member pathways
7.8CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A
29
Wnt Signaling Pathway (WikiPathways)
Show member pathways
7.6CTNNB1, LRP5, LRP6, SOST, 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
1endocytic vesicle membraneGO:003066610.0WNT1, WNT3A
2receptor complexGO:00432359.4LDLR, LRP5, LRP6
3proteinaceous extracellular matrixGO:00055789.2SOST, WNT1, WNT3A
4cell surfaceGO:00099868.2LDLR, LRP6, WNT1, WNT3A
5extracellular regionGO:00055767.9CALCA, LRP6, SOST, WNT1, WNT3A

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

(show all 37)
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
4positive regulation of dermatome developmentGO:006118410.2WNT1, WNT3A
5positive regulation of mesenchymal cell proliferationGO:000205310.2CTNNB1, LRP5
6positive regulation of skeletal muscle tissue developmentGO:004864310.2CTNNB1, WNT3A
7negative regulation of protein serine/threonine kinase activityGO:007190110.2LRP5, LRP6
8gastrulation with mouth forming secondGO:000170210.2CTNNB1, LRP5
9midbrain developmentGO:003090110.2LRP6, WNT1
10spinal cord association neuron differentiationGO:002152710.2WNT1, WNT3A
11negative regulation of fat cell differentiationGO:004559910.1WNT1, WNT3A
12negative regulation of BMP signaling pathwayGO:003051410.1SOST, WNT1
13regulation of cell differentiationGO:004559510.1CTNNB1, WNT3A
14canonical Wnt signaling pathway involved in negative regulation of apoptotic processGO:004433610.1CTNNB1, WNT1
15embryonic digit morphogenesisGO:004273310.1CTNNB1, LRP5
16cholesterol homeostasisGO:004263210.0LDLR, LRP5
17T cell differentiation in thymusGO:00330779.9CTNNB1, WNT1
18negative regulation of cell differentiationGO:00455969.9CTNNB1, WNT1
19embryonic axis specificationGO:00005789.9CTNNB1, WNT1
20branching involved in ureteric bud morphogenesisGO:00016589.9CTNNB1, WNT1
21odontogenesis of dentin-containing toothGO:00424759.8CTNNB1, LRP6
22negative regulation of ossificationGO:00302799.8CALCA, SOST
23cholesterol metabolic processGO:00082039.7LDLR, LRP5
24negative regulation of osteoclast differentiationGO:00456719.7CALCA, CTNNB1
25regulation of blood pressureGO:00082179.6CALCA, LRP5
26inner ear morphogenesisGO:00424729.5WNT1, WNT3A
27bone developmentGO:00603489.5LRP5, WNT1
28negative regulation of canonical Wnt signaling pathwayGO:00900909.4LRP6, SOST, WNT3A
29vasculature developmentGO:00019449.3CALCA, CTNNB1, LRP5
30positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.2LRP5, LRP6, WNT1, WNT3A
31cellular protein localizationGO:00346139.2CTNNB1, WNT3A
32canonical Wnt signaling pathwayGO:00600708.7CTNNB1, LRP5, LRP6, WNT1, WNT3A
33positive regulation of cell proliferationGO:00082848.7CTNNB1, LRP5, WNT1, WNT3A
34positive regulation of canonical Wnt signaling pathwayGO:00902638.5CTNNB1, LRP5, LRP6, WNT1, WNT3A
35positive regulation of transcription from RNA polymerase II promoterGO:00459448.2CTNNB1, LRP5, LRP6, WNT1, WNT3A
36positive regulation of transcription, DNA-templatedGO:00458938.1CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A
37Wnt signaling pathwayGO:00160558.0CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1toxin transporter activityGO:001953410.3LRP5, LRP6
2Wnt-activated receptor activityGO:004281310.2LRP5, LRP6
3receptor agonist activityGO:00480189.9WNT1, WNT3A
4Wnt-protein bindingGO:00171479.9LRP5, LRP6
5low-density lipoprotein receptor activityGO:00050419.6LDLR, LRP6
6frizzled bindingGO:00051099.3LRP6, WNT1, WNT3A
7receptor bindingGO:00051028.3CALCA, LRP6, WNT1, WNT3A

Sources for Craniodiaphyseal Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet