MCID: CRN013
MIFTS: 35

Craniodiaphyseal Dysplasia malady

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

Summaries for Craniodiaphyseal Dysplasia

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Disease Ontology:9 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 is related to camurati-engelmann disease and craniodiaphyseal dysplasia, autosomal dominant, 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 TGF-beta Signaling Pathway and Wnt Signaling Pathway. The compounds 1,25 dihydroxy vitamin d3 and vitamin d have been mentioned in the context of this disorder. Affiliated tissues include skull which decreases the size of cranium foramina and bone, and related mouse phenotypes are homeostasis/metabolism and growth/size/body.

Wikipedia:63 Craniodiaphyseal dysplasia (also known as CDD or lionitis) is an extremely rare autosomal recessive bone... more...

Aliases & Classifications for Craniodiaphyseal Dysplasia

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Craniodiaphyseal Dysplasia, Aliases & Descriptions:

Name: Craniodiaphyseal Dysplasia 9 41 20 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

47
craniodiaphyseal dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:0080032
Orphanet47 1513
ICD10 via Orphanet26 M85.2
UMLS via Orphanet61 C0410539

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:

 47 (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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Drug clinical trials:

Search ClinicalTrials for Craniodiaphyseal Dysplasia

Search 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 Dysplasia20

Anatomical Context for Craniodiaphyseal Dysplasia

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MalaCards organs/tissues related to Craniodiaphyseal Dysplasia:

31
Bone

FMA organs/tissues related to Craniodiaphyseal Dysplasia:

14
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.5SOST, TGFB1, LRP5
2MP:00053788.2SOST, TGFB1, LRP5

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:

6
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:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3SOST, TGFB1
2
Show member pathways
DNA damage response (only ATM dependent)36
Wnt Signaling Pathway and Pluripotency36
9.1TGFB1, LRP5
39.1LRP5, TGFB1
49.1TGFB1, LRP5
5
Show member pathways
Wnt Signaling Pathway NetPath36
9.0SOST, LRP5

Compounds for genes affiliated with Craniodiaphyseal Dysplasia

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Sources:
43Novoseek
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Compounds related to Craniodiaphyseal Dysplasia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
11,25 dihydroxy vitamin d3439.1TGFB1, LRP5
2vitamin d438.4SOST, TGFB1, LRP5
3estrogen438.2SOST, TGFB1, LRP5

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
1proteinaceous extracellular matrixGO:00055789.3SOST, TGFB1

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of ossificationGO:00302799.4SOST, TGFB1
2positive regulation of transcription from RNA polymerase II promoterGO:00459449.1TGFB1, LRP5
3Wnt signaling pathwayGO:00160558.9LRP5, SOST
4positive regulation of cell proliferationGO:00082848.8TGFB1, LRP5
5positive regulation of transcription, DNA-templatedGO:00458938.5SOST, TGFB1, LRP5

Products for genes affiliated with Craniodiaphyseal Dysplasia

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  • Antibodies
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Sources for Craniodiaphyseal Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet