MCID: CRN013
MIFTS: 42

Craniodiaphyseal Dysplasia malady

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

Aliases & Classifications for Craniodiaphyseal Dysplasia

About this section
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

About this section
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 and bone, 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

About this section

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



Diseases related to craniodiaphyseal dysplasia

Symptoms for Craniodiaphyseal Dysplasia

About this section

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

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Craniodiaphyseal Dysplasia

Genetic Tests for Craniodiaphyseal Dysplasia

About this section

Genetic tests related to Craniodiaphyseal Dysplasia:

id Genetic test Affiliating Genes
1 Craniodiaphyseal Dysplasia22

Anatomical Context for Craniodiaphyseal Dysplasia

About this section

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

About this section

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

About this section

Articles related to Craniodiaphyseal Dysplasia:

(show all 20)
idTitleAuthorsYear
1
A novel homozygous mutation in the EC1/EC2 interaction domain of the gap junction complex connexon 26 leads to profound hearing impairment. (24551843)
2014
2
FOXM1 targets NBS1 to regulate DNA damage-induced senescence and epirubicin resistance. (24141789)
2014
3
Proposed modification of the seventh american joint committee on cancer staging system for esophageal squamous cell carcinoma in chinese patients. (24046121)
2014
4
Impact of T3 thoracoscopic sympathectomy on pupillary function: a cause of partial Horner's syndrome? (22044979)
2012
5
Selective inhibition of the tumor marker AKR1B10 by antiinflammatory N-phenylanthranilic acids and glycyrrhetic acid. (20460771)
2010
6
Primary cardiac lymphoma presenting with cardiac tamponade. (20354959)
2009
7
Association of matrix metalloproteinases-9 gene polymorphisms with genetic susceptibility to esophageal squamous cell carcinoma. (18680431)
2008
8
Evolutionary modification of mouth position in deuterostomes. (17656139)
2007
9
Familial hypercholesterolemia with coarctation of aorta. (17699994)
2007
10
Cytosolic accumulation of HSP60 during apoptosis with or without apparent mitochondrial release: evidence that its pro-apoptotic or pro-survival functions involve differential interactions with caspase-3. (17823127)
2007
11
Interactive effects of anger expression and ET-1 Lys198Asn polymorphism on vasoconstriction reactivity to behavioral stress. (16097909)
2005
12
Electrically neutral microheterogeneity of human plasma transthyretin (prealbumin) detected by isoelectric focusing in urea gradients. (10424456)
1999
13
Desquamative inflammatory vaginitis. (18476103)
1996
14
Correspondence re: Brandwein M, Nuovo G, Ramer M, Orlowski W, Miller L: Epstein-Barr virus reactivation in hairy leukoplakia. Mod Pathol 9:298, 1996. (8871932)
1996
15
Axillary cystic lymphangioma in pregnancy. (7781881)
1995
16
Subarachnoid-pleural fistula after resection of a pancoast tumor with hyponatremia. (7677501)
1995
17
Somatostatin in the management of gastrointestinal fistulas. A multicenter trial. (1346491)
1992
18
Sensitivity of melanoma cell lines to natural killer cells: a role for oncogene-modulated HLA class I expression? (1912519)
1991
19
Fetal urinary tract obstruction: experimental pathophysiology. (3898387)
1985
20
Familial bilateral essential iris atrophy (Group 2). (13870206)
1962

Variations for Craniodiaphyseal Dysplasia

About this section

Expression for genes affiliated with Craniodiaphyseal Dysplasia

About this section
Search GEO for disease gene expression data for Craniodiaphyseal Dysplasia.

Pathways for genes affiliated with Craniodiaphyseal Dysplasia

About this section

Pathways related to Craniodiaphyseal Dysplasia according to GeneCards Suite gene sharing:

(show all 31)
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
9
Show member pathways
9.0CTNNB1, WNT1, WNT3A
10
Show member pathways
9.0CTNNB1, WNT1, WNT3A
119.0CTNNB1, 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
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
25
Show member pathways
8.2CTNNB1, LRP5, LRP6, WNT1, WNT3A
268.2CTNNB1, LRP5, LRP6, WNT1, WNT3A
27
Show member pathways
7.8CTNNB1, LRP5, LRP6, WNT1, WNT3A
28
Show member pathways
7.8CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A
29
Show member pathways
7.8CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A
30
Show member pathways
7.6CTNNB1, LRP5, LRP6, SOST, WNT1, WNT3A
31
Show member pathways
6.4CALCA, CTNNB1, LDLR, LRP5, LRP6, SOST

GO Terms for genes affiliated with Craniodiaphyseal Dysplasia

About this section

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

About this section
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