MCID: CRN013
MIFTS: 42

Craniodiaphyseal Dysplasia

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

Aliases & Classifications for Craniodiaphyseal Dysplasia

MalaCards integrated aliases for Craniodiaphyseal Dysplasia:

Name: Craniodiaphyseal Dysplasia 12 50 24 56 14
Cdd 24

Characteristics:

Orphanet epidemiological data:

56
craniodiaphyseal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

Disease Ontology 12 DOID:0080032
Orphanet 56 ORPHA1513
UMLS via Orphanet 70 C0410539
ICD10 via Orphanet 34 M85.2

Summaries for Craniodiaphyseal Dysplasia

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 1513disease definitioncraniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.visit the orphanet disease page for more resources. last updated: 9/27/2014

MalaCards based summary : Craniodiaphyseal Dysplasia, also known as cdd, is related to craniodiaphyseal dysplasia, autosomal dominant and childhood disintegrative disease, and has symptoms including short stature, optic atrophy and depressed nasal bridge. An important gene associated with Craniodiaphyseal Dysplasia is SOST (Sclerostin), and among its related pathways/superpathways are Signaling by GPCR and Signaling by Wnt. Affiliated tissues include bone, and related phenotypes are behavior/neurological and growth/size/body region

Disease Ontology : 12 An osteosclerosis that results_in increased calcium concentration located in skull which decreases the size of cranium foramina and cervical spinal canal.

Wikipedia : 72 Craniodiaphyseal dysplasia (also known as CDD or lionitis) is an extremely rare autosomal recessive bone... more...

Related Diseases for Craniodiaphyseal Dysplasia

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



Diseases related to Craniodiaphyseal Dysplasia

Symptoms & Phenotypes for Craniodiaphyseal Dysplasia

Human phenotypes related to Craniodiaphyseal Dysplasia:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
3 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
4 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
5 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
6 macrocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000256
7 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
8 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
9 diaphyseal thickening 56 32 hallmark (90%) Very frequent (99-80%) HP:0005019
10 craniofacial hyperostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0004493
11 conductive hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000405
12 abnormality of the ribs 56 32 hallmark (90%) Very frequent (99-80%) HP:0000772
13 stenosis of the external auditory canal 56 32 frequent (33%) Frequent (79-30%) HP:0000402

MGI Mouse Phenotypes related to Craniodiaphyseal Dysplasia:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 WNT3A CTNNB1 LDLR LRP5 LRP6 TGFB1
2 growth/size/body region MP:0005378 10 CTNNB1 LDLR LRP5 LRP6 SOST TGFB1
3 craniofacial MP:0005382 9.99 LRP5 LRP6 TGFB1 WNT1 WNT3A CTNNB1
4 embryo MP:0005380 9.95 CTNNB1 LRP5 LRP6 TGFB1 WNT1 WNT3A
5 digestive/alimentary MP:0005381 9.89 CTNNB1 LDLR LRP6 TGFB1 WNT3A
6 limbs/digits/tail MP:0005371 9.8 CTNNB1 LRP5 LRP6 SOST WNT3A
7 nervous system MP:0003631 9.8 CTNNB1 LDLR LRP5 LRP6 TGFB1 WNT1
8 liver/biliary system MP:0005370 9.77 CTNNB1 LDLR LRP5 LRP6 TGFB1
9 hearing/vestibular/ear MP:0005377 9.73 CTNNB1 LRP6 WNT1 WNT3A
10 muscle MP:0005369 9.72 WNT1 WNT3A CTNNB1 LDLR TGFB1
11 respiratory system MP:0005388 9.55 CTNNB1 LRP6 TGFB1 WNT1 WNT3A
12 skeleton MP:0005390 9.5 CTNNB1 LRP5 LRP6 SOST TGFB1 WNT1
13 vision/eye MP:0005391 9.02 CTNNB1 LDLR LRP5 LRP6 TGFB1

Drugs & Therapeutics for Craniodiaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Craniodiaphyseal Dysplasia

Genetic Tests for Craniodiaphyseal Dysplasia

Genetic tests related to Craniodiaphyseal Dysplasia:

id Genetic test Affiliating Genes
1 Craniodiaphyseal Dysplasia 24

Anatomical Context for Craniodiaphyseal Dysplasia

MalaCards organs/tissues related to Craniodiaphyseal Dysplasia:

39
Bone

Publications for Craniodiaphyseal Dysplasia

Articles related to Craniodiaphyseal Dysplasia:

(show all 20)
id Title Authors Year
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
Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management. ( 8733453 )
1996
10
Craniodiaphyseal dysplasia; another cause of difficult intubation. ( 8732615 )
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

Expression for Craniodiaphyseal Dysplasia

Search GEO for disease gene expression data for Craniodiaphyseal Dysplasia.

Pathways for Craniodiaphyseal Dysplasia

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

(show all 40)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 CALCA CTNNB1 LDLR LRP5 LRP6 SOST
2
Show member pathways
12.73 CTNNB1 LRP5 LRP6 SOST WNT1 WNT3A
3 12.55 CTNNB1 TGFB1 WNT1 WNT3A
4
Show member pathways
12.41 LRP5 LRP6 WNT1 WNT3A
5
Show member pathways
12.41 CTNNB1 LRP5 LRP6 TGFB1 WNT1 WNT3A
6
Show member pathways
12.38 CTNNB1 TGFB1 WNT1 WNT3A
7 12.34 CTNNB1 TGFB1 WNT1 WNT3A
8 12.31 CTNNB1 LRP5 LRP6 WNT1 WNT3A
9
Show member pathways
12.25 CALCA WNT1 WNT3A
10
Show member pathways
12.21 CTNNB1 WNT1 WNT3A
11 12.2 CTNNB1 TGFB1 WNT1 WNT3A
12 12.13 CTNNB1 LRP5 LRP6 TGFB1 WNT3A
13 12.06 CTNNB1 TGFB1 WNT1 WNT3A
14
Show member pathways
12.06 CTNNB1 LRP5 LRP6 TGFB1 WNT3A
15
Show member pathways
12 CTNNB1 TGFB1 WNT1 WNT3A
16 11.99 CTNNB1 WNT1 WNT3A
17 11.98 CTNNB1 WNT1 WNT3A
18 11.95 CTNNB1 TGFB1 WNT1
19 11.89 CTNNB1 LDLR TGFB1 WNT1 WNT3A
20 11.86 CTNNB1 LRP5 LRP6 WNT1
21
Show member pathways
11.86 CTNNB1 LRP5 LRP6 SOST WNT1 WNT3A
22 11.83 CTNNB1 WNT1 WNT3A
23
Show member pathways
11.67 CTNNB1 LDLR LRP5 LRP6 SOST WNT1
24 11.65 CTNNB1 LRP5 LRP6 TGFB1 WNT1 WNT3A
25 11.57 CTNNB1 TGFB1 WNT1
26 11.56 CTNNB1 WNT1 WNT3A
27
Show member pathways
11.54 CTNNB1 WNT1 WNT3A
28 11.52 CTNNB1 LRP5 LRP6
29 11.52 CTNNB1 LRP5 LRP6 TGFB1 WNT1
30 11.46 TGFB1 WNT1 WNT3A
31 11.42 CTNNB1 LRP6 WNT1
32 11.39 CTNNB1 TGFB1
33
Show member pathways
11.22 LRP5 LRP6 WNT3A
34 11.19 CTNNB1 LRP5
35 11.18 CTNNB1 TGFB1 WNT3A
36 11.15 TGFB1 WNT1
37 11.15 LRP5 LRP6 WNT1 WNT3A
38 11.05 CTNNB1 LRP5 LRP6 WNT1
39
Show member pathways
10.94 LRP5 LRP6 SOST WNT3A
40 10.92 CTNNB1 WNT1

GO Terms for Craniodiaphyseal Dysplasia

Cellular components related to Craniodiaphyseal Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 CALCA LRP6 SOST TGFB1 WNT1 WNT3A
2 extracellular space GO:0005615 9.85 CALCA LDLR SOST TGFB1 WNT1 WNT3A
3 receptor complex GO:0043235 9.58 LDLR LRP5 LRP6
4 proteinaceous extracellular matrix GO:0005578 9.56 SOST TGFB1 WNT1 WNT3A
5 cell surface GO:0009986 9.55 LDLR LRP6 TGFB1 WNT1 WNT3A
6 Golgi lumen GO:0005796 9.5 TGFB1 WNT1 WNT3A
7 Wnt signalosome GO:1990909 9.13 CTNNB1 LRP5 LRP6
8 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.8 LRP5 LRP6 WNT3A

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

(show top 50) (show all 54)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.95 CTNNB1 LRP5 TGFB1 WNT1 WNT3A
2 positive regulation of gene expression GO:0010628 9.93 CTNNB1 LDLR TGFB1 WNT3A
3 regulation of apoptotic process GO:0042981 9.89 CTNNB1 LRP5 TGFB1
4 negative regulation of gene expression GO:0010629 9.86 CTNNB1 LDLR TGFB1
5 endocytosis GO:0006897 9.85 LDLR LRP5 LRP6
6 positive regulation of protein phosphorylation GO:0001934 9.84 TGFB1 WNT1 WNT3A
7 positive regulation of canonical Wnt signaling pathway GO:0090263 9.83 LRP6 WNT1 WNT3A
8 positive regulation of transcription, DNA-templated GO:0045893 9.8 CTNNB1 LRP5 LRP6 SOST TGFB1 WNT1
9 negative regulation of cell differentiation GO:0045596 9.77 CTNNB1 TGFB1 WNT1
10 negative regulation of fat cell differentiation GO:0045599 9.74 TGFB1 WNT1 WNT3A
11 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.72 CTNNB1 LRP5 LRP6 WNT1 WNT3A
12 cellular protein localization GO:0034613 9.71 CTNNB1 WNT3A
13 negative regulation of BMP signaling pathway GO:0030514 9.71 SOST WNT1
14 animal organ regeneration GO:0031100 9.71 TGFB1 WNT1
15 positive regulation of epithelial to mesenchymal transition GO:0010718 9.71 CTNNB1 TGFB1
16 branching involved in ureteric bud morphogenesis GO:0001658 9.71 CTNNB1 WNT1
17 regulation of cell differentiation GO:0045595 9.7 CTNNB1 WNT3A
18 response to radiation GO:0009314 9.7 LRP5 TGFB1
19 epithelial to mesenchymal transition GO:0001837 9.7 CTNNB1 TGFB1
20 T cell differentiation GO:0030217 9.7 CTNNB1 TGFB1
21 mammary gland development GO:0030879 9.69 TGFB1 WNT3A
22 face morphogenesis GO:0060325 9.69 LRP6 TGFB1
23 T cell differentiation in thymus GO:0033077 9.69 CTNNB1 WNT1
24 positive regulation of mesenchymal cell proliferation GO:0002053 9.68 CTNNB1 LRP5
25 negative regulation of protein serine/threonine kinase activity GO:0071901 9.68 LRP5 LRP6
26 dopaminergic neuron differentiation GO:0071542 9.68 LRP6 WNT1
27 regulation of canonical Wnt signaling pathway GO:0060828 9.67 LRP5 LRP6
28 negative regulation of osteoclast differentiation GO:0045671 9.67 CALCA CTNNB1
29 gastrulation with mouth forming second GO:0001702 9.66 CTNNB1 LRP5
30 negative regulation of cell-cell adhesion GO:0022408 9.65 TGFB1 WNT1
31 spinal cord association neuron differentiation GO:0021527 9.65 WNT1 WNT3A
32 midbrain development GO:0030901 9.65 CTNNB1 WNT1 WNT3A
33 positive regulation of cardiac muscle cell differentiation GO:2000727 9.64 TGFB1 WNT3A
34 negative regulation of oxidative stress-induced neuron death GO:1903204 9.64 CTNNB1 WNT1
35 positive regulation of skeletal muscle tissue development GO:0048643 9.63 CTNNB1 WNT3A
36 vasculature development GO:0001944 9.63 CALCA CTNNB1 LRP5
37 embryonic brain development GO:1990403 9.62 CTNNB1 WNT1
38 embryonic axis specification GO:0000578 9.62 CTNNB1 WNT1
39 positive regulation of core promoter binding GO:1904798 9.61 CTNNB1 WNT3A
40 cell proliferation in midbrain GO:0033278 9.61 WNT1 WNT3A
41 negative regulation of ossification GO:0030279 9.61 CALCA SOST TGFB1
42 Wnt signaling pathway involved in dorsal/ventral axis specification GO:0044332 9.59 LRP5 LRP6
43 midbrain-hindbrain boundary development GO:0030917 9.58 LRP6 WNT1
44 canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904954 9.58 CTNNB1 WNT1
45 midbrain dopaminergic neuron differentiation GO:1904948 9.58 CTNNB1 LRP6 WNT1
46 canonical Wnt signaling pathway GO:0060070 9.55 CTNNB1 LRP5 LRP6 WNT1 WNT3A
47 axis elongation involved in somitogenesis GO:0090245 9.54 LRP6 WNT3A
48 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904953 9.54 LRP6 WNT1 WNT3A
49 receptor-mediated endocytosis involved in cholesterol transport GO:0090118 9.52 LDLR LRP6
50 canonical Wnt signaling pathway involved in negative regulation of apoptotic process GO:0044336 9.51 CTNNB1 WNT1

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

id Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.62 CALCA LRP6 WNT1 WNT3A
2 Wnt-protein binding GO:0017147 9.46 LRP5 LRP6
3 receptor agonist activity GO:0048018 9.43 WNT1 WNT3A
4 Wnt-activated receptor activity GO:0042813 9.4 LRP5 LRP6
5 low-density lipoprotein receptor activity GO:0005041 9.37 LDLR LRP6
6 frizzled binding GO:0005109 9.33 LRP6 WNT1 WNT3A
7 toxin transporter activity GO:0019534 9.26 LRP5 LRP6
8 coreceptor activity involved in Wnt signaling pathway GO:0071936 8.96 LRP5 LRP6
9 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 8.62 LRP5 LRP6

Sources for Craniodiaphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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