MCID: CRN013
MIFTS: 46

Craniodiaphyseal Dysplasia malady

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

Aliases & Classifications for Craniodiaphyseal Dysplasia

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Craniodiaphyseal Dysplasia:

Name: Craniodiaphyseal Dysplasia 10 45 22 12 51
 
Cdd 22

Characteristics:

Orphanet epidemiological data:

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

Classifications:



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 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, bone and breast, and related mouse phenotypes are limbs/digits/tail and embryo.

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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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, Breast

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
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6CTNNB1, LRP5, LRP6, SOST, WNT3A
2MP:00053808.6CTNNB1, LRP5, LRP6, WNT1, WNT3A
3MP:00028738.5CTNNB1, LDLR, LRP5, LRP6, SOST
4MP:00053778.3CTNNB1, LRP6, WNT1, WNT3A
5MP:00053828.2CTNNB1, LRP5, LRP6, WNT1, WNT3A
6MP:00053907.8CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A
7MP:00053867.7CTNNB1, LDLR, LRP5, LRP6, WNT1, WNT3A
8MP:00036317.7CTNNB1, 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
7
Show member pathways
9.0CTNNB1, WNT1, WNT3A
8
Show member pathways
9.0CTNNB1, WNT1, WNT3A
99.0CTNNB1, 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
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
20
Show member pathways
8.7CALCA, WNT1, WNT3A
218.6CTNNB1, LRP5, LRP6, WNT1
228.4CTNNB1, LDLR, WNT1, WNT3A
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
1endoplasmic reticulum lumenGO:00057889.5WNT1, WNT3A
2basolateral plasma membraneGO:00163239.3CTNNB1, LDLR

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1gastrulation with mouth forming secondGO:000170210.2CTNNB1, LRP5
2Wnt signaling pathway involved in midbrain dopaminergic neuron differentiationGO:190495310.2WNT1, WNT3A
3cell proliferation in midbrainGO:003327810.1WNT1, WNT3A
4positive regulation of dermatome developmentGO:006118410.1WNT1, WNT3A
5anterior/posterior pattern specificationGO:000995210.1LRP5, WNT3A
6embryonic digit morphogenesisGO:004273310.1CTNNB1, LRP5
7bone developmentGO:006034810.1LRP5, WNT1
8cholesterol metabolic processGO:000820310.0LDLR, LRP5
9embryonic brain developmentGO:199040310.0CTNNB1, WNT1
10negative regulation of fat cell differentiationGO:004559910.0WNT1, WNT3A
11positive regulation of sequence-specific DNA binding transcription factor activityGO:005109110.0CTNNB1, LRP6
12hemopoiesisGO:003009710.0CTNNB1, WNT3A
13regulation of cell differentiationGO:004559510.0CTNNB1, WNT3A
14T cell differentiation in thymusGO:003307710.0CTNNB1, WNT1
15cellular protein localizationGO:003461310.0CTNNB1, WNT3A
16negative regulation of protein serine/threonine kinase activityGO:00719019.8LRP5, LRP6
17inner ear morphogenesisGO:00424729.8WNT1, WNT3A
18neurogenesisGO:00220089.7WNT1, WNT3A
19negative regulation of osteoclast differentiationGO:00456719.6CALCA, CTNNB1
20vasculature developmentGO:00019449.6CALCA, LRP5
21dopaminergic neuron differentiationGO:00715429.5CTNNB1, LRP6, WNT1
22neuron differentiationGO:00301829.4CTNNB1, WNT1, WNT3A
23positive regulation of transcription, DNA-templatedGO:00458939.4CTNNB1, WNT1, WNT3A
24positive regulation of canonical Wnt signaling pathwayGO:00902639.2LRP6, WNT1, WNT3A
25positive regulation of cell proliferationGO:00082849.2LRP5, WNT1, WNT3A
26midbrain developmentGO:00309019.2CTNNB1, LRP6, WNT1, WNT3A
27beta-catenin destruction complex disassemblyGO:19048868.6CTNNB1, LRP5, LRP6, WNT1, WNT3A
28canonical Wnt signaling pathwayGO:00600708.5CTNNB1, LRP5, LRP6, WNT1, WNT3A
29positive regulation of transcription from RNA polymerase II promoterGO:00459448.4LRP5, LRP6, WNT1, WNT3A
30Wnt signaling pathwayGO:00160558.4LRP5, LRP6, SOST, WNT1, WNT3A

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

idNameGO IDScoreTop Affiliating Genes
1toxin transporter activityGO:00195349.7LRP5, LRP6

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