CDD
MCID: CRN013
MIFTS: 42

Craniodiaphyseal Dysplasia (CDD) malady

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

Aliases & Classifications for Craniodiaphyseal Dysplasia

Aliases & Descriptions 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

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.

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, frontal bossing and intellectual disability. An important gene associated with Craniodiaphyseal Dysplasia is SOST (Sclerostin), and among its related pathways/superpathways are Signaling by GPCR and Glioma. Affiliated tissues include bone and skull which decreases the size of cranium foramina, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 71 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 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
2 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
3 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
4 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
5 craniofacial hyperostosis 56 32 Very frequent (99-80%) HP:0004493
6 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
7 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
8 optic atrophy 56 32 Occasional (29-5%) HP:0000648
9 short stature 56 32 Very frequent (99-80%) HP:0004322
10 diaphyseal thickening 56 32 Very frequent (99-80%) HP:0005019
11 conductive hearing impairment 56 32 Frequent (79-30%) HP:0000405
12 abnormality of the ribs 56 32 Very frequent (99-80%) HP:0000772
13 stenosis of the external auditory canal 56 32 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 CTNNB1 LDLR LRP5 LRP6 TGFB1 WNT1
2 growth/size/body region MP:0005378 10 CTNNB1 LDLR LRP5 LRP6 SOST TGFB1
3 craniofacial MP:0005382 9.99 CTNNB1 LRP5 LRP6 TGFB1 WNT1 WNT3A
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 LRP5 LRP6 TGFB1 CTNNB1 LDLR
9 hearing/vestibular/ear MP:0005377 9.73 CTNNB1 LRP6 WNT1 WNT3A
10 muscle MP:0005369 9.72 CTNNB1 LDLR TGFB1 WNT1 WNT3A
11 respiratory system MP:0005388 9.55 CTNNB1 LRP6 TGFB1 WNT1 WNT3A
12 skeleton MP:0005390 9.5 WNT1 WNT3A CTNNB1 LRP5 LRP6 SOST
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

The Foundational Model of Anatomy Ontology organs/tissues related to Craniodiaphyseal Dysplasia:

18
Skull Which Decreases The Size Of Cranium Foramina

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
Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management. ( 8733453 )
1996
9
Craniodiaphyseal dysplasia; another cause of difficult intubation. ( 8732615 )
1996
10
Intracranial and extracranial reduction osteoplasty for craniodiaphyseal dysplasia. ( 8827383 )
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
13.95 CALCA CTNNB1 LDLR LRP5 LRP6 SOST
2
Show member pathways
12.9 CTNNB1 LRP5 LRP6 WNT1 WNT3A
3
Show member pathways
12.73 CTNNB1 LRP5 LRP6 SOST WNT1 WNT3A
4 12.55 CTNNB1 TGFB1 WNT1 WNT3A
5
Show member pathways
12.42 CTNNB1 LRP5 LRP6 WNT1 WNT3A
6
Show member pathways
12.41 LRP5 LRP6 WNT1 WNT3A
7
Show member pathways
12.38 CTNNB1 TGFB1 WNT1 WNT3A
8 12.34 CTNNB1 TGFB1 WNT1 WNT3A
9 12.31 CTNNB1 LRP5 LRP6 WNT1 WNT3A
10
Show member pathways
12.26 CALCA WNT1 WNT3A
11
Show member pathways
12.21 CTNNB1 WNT1 WNT3A
12 12.2 CTNNB1 TGFB1 WNT1 WNT3A
13 12.13 CTNNB1 LRP5 LRP6 TGFB1 WNT3A
14 12.06 CTNNB1 TGFB1 WNT1 WNT3A
15
Show member pathways
12.06 CTNNB1 LRP5 LRP6 TGFB1 WNT3A
16
Show member pathways
12.01 CTNNB1 TGFB1 WNT1 WNT3A
17 11.99 CTNNB1 WNT1 WNT3A
18 11.98 CTNNB1 WNT1 WNT3A
19 11.96 CTNNB1 TGFB1 WNT1
20 11.89 CTNNB1 LDLR TGFB1 WNT1 WNT3A
21 11.87 CTNNB1 LRP5 LRP6 WNT1
22
Show member pathways
11.86 CTNNB1 LRP5 LRP6 SOST WNT1 WNT3A
23 11.84 CTNNB1 WNT1 WNT3A
24
Show member pathways
11.67 CTNNB1 LDLR LRP5 LRP6 SOST WNT1
25 11.65 CTNNB1 LRP5 LRP6 TGFB1 WNT1 WNT3A
26 11.58 CTNNB1 WNT1 WNT3A
27 11.56 CTNNB1 TGFB1 WNT1
28
Show member pathways
11.53 CTNNB1 WNT1 WNT3A
29 11.52 CTNNB1 LRP5 LRP6 TGFB1 WNT1
30 11.51 CTNNB1 LRP5 LRP6
31 11.46 TGFB1 WNT1 WNT3A
32 11.42 CTNNB1 LRP6 WNT1
33
Show member pathways
11.23 LRP5 LRP6 WNT3A
34 11.19 CTNNB1 LRP5
35 11.19 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 9.73 CALCA LDLR SOST TGFB1 WNT1 WNT3A
3 proteinaceous extracellular matrix GO:0005578 9.62 SOST TGFB1 WNT1 WNT3A
4 receptor complex GO:0043235 9.58 LDLR LRP5 LRP6
5 cell surface GO:0009986 9.55 LDLR LRP6 TGFB1 WNT1 WNT3A
6 Golgi lumen GO:0005796 9.54 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 55)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.97 CTNNB1 LRP5 LRP6 TGFB1 WNT1 WNT3A
2 positive regulation of gene expression GO:0010628 9.94 CTNNB1 LDLR TGFB1 WNT3A
3 positive regulation of cell proliferation GO:0008284 9.91 CTNNB1 LRP5 TGFB1 WNT1 WNT3A
4 regulation of apoptotic process GO:0042981 9.88 CTNNB1 LRP5 TGFB1
5 positive regulation of transcription, DNA-templated GO:0045893 9.87 CTNNB1 LRP5 LRP6 SOST TGFB1 WNT1
6 endocytosis GO:0006897 9.85 LDLR LRP5 LRP6
7 negative regulation of gene expression GO:0010629 9.85 CTNNB1 LDLR TGFB1
8 positive regulation of protein phosphorylation GO:0001934 9.84 TGFB1 WNT1 WNT3A
9 positive regulation of canonical Wnt signaling pathway GO:0090263 9.83 LRP6 WNT1 WNT3A
10 negative regulation of cell differentiation GO:0045596 9.76 CTNNB1 TGFB1 WNT1
11 positive regulation of fibroblast proliferation GO:0048146 9.72 TGFB1 WNT1
12 animal organ regeneration GO:0031100 9.72 TGFB1 WNT1
13 negative regulation of BMP signaling pathway GO:0030514 9.71 SOST WNT1
14 branching involved in ureteric bud morphogenesis GO:0001658 9.71 CTNNB1 WNT1
15 regulation of cell differentiation GO:0045595 9.71 CTNNB1 WNT3A
16 epithelial to mesenchymal transition GO:0001837 9.71 CTNNB1 TGFB1
17 T cell differentiation GO:0030217 9.71 CTNNB1 TGFB1
18 positive regulation of epithelial to mesenchymal transition GO:0010718 9.7 CTNNB1 TGFB1
19 response to radiation GO:0009314 9.7 LRP5 TGFB1
20 positive regulation of receptor activity GO:2000273 9.7 WNT1 WNT3A
21 negative regulation of fat cell differentiation GO:0045599 9.7 TGFB1 WNT1 WNT3A
22 face morphogenesis GO:0060325 9.69 LRP6 TGFB1
23 mammary gland development GO:0030879 9.69 TGFB1 WNT3A
24 T cell differentiation in thymus GO:0033077 9.69 CTNNB1 WNT1
25 positive regulation of mesenchymal cell proliferation GO:0002053 9.68 CTNNB1 LRP5
26 negative regulation of protein serine/threonine kinase activity GO:0071901 9.68 LRP5 LRP6
27 dopaminergic neuron differentiation GO:0071542 9.68 LRP6 WNT1
28 regulation of canonical Wnt signaling pathway GO:0060828 9.68 LRP5 LRP6
29 negative regulation of osteoclast differentiation GO:0045671 9.67 CALCA CTNNB1
30 gastrulation with mouth forming second GO:0001702 9.66 CTNNB1 LRP5
31 negative regulation of cell-cell adhesion GO:0022408 9.65 TGFB1 WNT1
32 spinal cord association neuron differentiation GO:0021527 9.65 WNT1 WNT3A
33 midbrain development GO:0030901 9.65 CTNNB1 WNT1 WNT3A
34 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.65 CTNNB1 LRP5 LRP6 WNT1 WNT3A
35 negative regulation of oxidative stress-induced neuron death GO:1903204 9.64 CTNNB1 WNT1
36 positive regulation of cardiac muscle cell differentiation GO:2000727 9.63 TGFB1 WNT3A
37 embryonic brain development GO:1990403 9.63 CTNNB1 WNT1
38 vasculature development GO:0001944 9.63 CALCA CTNNB1 LRP5
39 positive regulation of skeletal muscle tissue development GO:0048643 9.62 CTNNB1 WNT3A
40 embryonic axis specification GO:0000578 9.62 CTNNB1 WNT1
41 positive regulation of core promoter binding GO:1904798 9.61 CTNNB1 WNT3A
42 cell proliferation in midbrain GO:0033278 9.61 WNT1 WNT3A
43 negative regulation of ossification GO:0030279 9.61 CALCA SOST TGFB1
44 Wnt signaling pathway involved in dorsal/ventral axis specification GO:0044332 9.6 LRP5 LRP6
45 midbrain-hindbrain boundary development GO:0030917 9.59 LRP6 WNT1
46 canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904954 9.58 CTNNB1 WNT1
47 midbrain dopaminergic neuron differentiation GO:1904948 9.58 CTNNB1 LRP6 WNT1
48 receptor-mediated endocytosis involved in cholesterol transport GO:0090118 9.57 LDLR LRP6
49 axis elongation involved in somitogenesis GO:0090245 9.56 LRP6 WNT3A
50 canonical Wnt signaling pathway involved in negative regulation of apoptotic process GO:0044336 9.55 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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