MCID: CRN013
MIFTS: 48

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 53 12 72 49 55 14
Cdd 53

Characteristics:

Orphanet epidemiological data:

55
craniodiaphyseal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
craniodiaphyseal dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 218300
Disease Ontology 12 DOID:0080032
Orphanet 55 ORPHA1513
UMLS via Orphanet 70 C0410539
ICD10 via Orphanet 33 M85.2
MedGen 39 C0410539

Summaries for Craniodiaphyseal Dysplasia

NIH Rare Diseases : 49 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 camurati-engelmann disease and hyperostosis, 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 Signaling by Wnt. Affiliated tissues include bone and skull which decreases the size of cranium foramina, and related phenotypes are behavior/neurological and cellular

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...

Description from OMIM: 218300

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

Symptoms via clinical synopsis from OMIM:

53
Skull:
cranial hyperostosis

HEENT:
facial hyperostosis

Radiology:
diaphyses generally expanded

Limbs:
diaphyseal dysplasia
diaphyseal sclerosis
no metaphyseal flaring in distinction to craniometaphyseal dysplasia

Neuro:
mental retardation


Clinical features from OMIM:

218300

Human phenotypes related to Craniodiaphyseal Dysplasia:

55 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
4 coarse facial features 55 31 hallmark (90%) Very frequent (99-80%) HP:0000280
5 craniofacial hyperostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004493
6 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
7 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
8 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
9 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
10 diaphyseal thickening 55 31 hallmark (90%) Very frequent (99-80%) HP:0005019
11 conductive hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000405
12 abnormality of the ribs 55 31 hallmark (90%) Very frequent (99-80%) HP:0000772
13 stenosis of the external auditory canal 55 31 frequent (33%) Frequent (79-30%) HP:0000402
14 diaphyseal dysplasia 31 HP:0100252
15 facial hyperostosis 31 HP:0005465
16 diaphyseal sclerosis 31 HP:0003034

MGI Mouse Phenotypes related to Craniodiaphyseal Dysplasia:

43 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.08 TGFB1 LRP5 CTNNB1 LRP6 LDLR WNT1
2 cellular MP:0005384 10.07 TGFB1 LRP5 CTNNB1 LRP6 LDLR SOST
3 growth/size/body region MP:0005378 10 SOST LDLR LRP5 CTNNB1 LRP6 WNT3A
4 craniofacial MP:0005382 9.99 TGFB1 LRP5 CTNNB1 LRP6 WNT1 WNT3A
5 embryo MP:0005380 9.95 TGFB1 LRP5 CTNNB1 LRP6 WNT1 WNT3A
6 digestive/alimentary MP:0005381 9.89 CTNNB1 LRP6 LDLR WNT3A TGFB1
7 limbs/digits/tail MP:0005371 9.8 LRP5 CTNNB1 LRP6 SOST WNT3A
8 nervous system MP:0003631 9.8 TGFB1 LRP5 CTNNB1 LRP6 LDLR WNT1
9 liver/biliary system MP:0005370 9.77 TGFB1 LRP5 CTNNB1 LRP6 LDLR
10 hearing/vestibular/ear MP:0005377 9.73 CTNNB1 LRP6 WNT3A WNT1
11 muscle MP:0005369 9.72 CTNNB1 LDLR WNT3A TGFB1 WNT1
12 respiratory system MP:0005388 9.55 CTNNB1 LRP6 WNT3A TGFB1 WNT1
13 skeleton MP:0005390 9.5 TGFB1 LRP5 CTNNB1 LRP6 SOST WNT1
14 vision/eye MP:0005391 9.02 LDLR LRP5 CTNNB1 LRP6 TGFB1

Drugs & Therapeutics for Craniodiaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Craniodiaphyseal Dysplasia

Genetic Tests for Craniodiaphyseal Dysplasia

Anatomical Context for Craniodiaphyseal Dysplasia

MalaCards organs/tissues related to Craniodiaphyseal Dysplasia:

38
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 21)
# Title Authors Year
1
Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia. ( 28973168 )
2017
2
Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother. ( 23295610 )
2012
3
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. ( 21221996 )
2011
4
Craniodiaphyseal dysplasia: an unusual cause of recurrent dacryocystitis. ( 17456942 )
2007
5
A boy with severe craniodiaphyseal dysplasia and apparently normal mother. ( 17853455 )
2007
6
MR imaging features of craniodiaphyseal dysplasia. ( 14530887 )
2004
7
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia? ( 14564212 )
2003
8
Stenosis of the cervical canal in craniodiaphyseal dysplasia. ( 11341413 )
2001
9
Craniodiaphyseal dysplasia; another cause of difficult intubation. ( 8732615 )
1996
10
Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management. ( 8733453 )
1996
11
Intracranial and extracranial reduction osteoplasty for craniodiaphyseal dysplasia. ( 8827383 )
1996
12
Nasolacrimal obstruction and facial bone histopathology in craniodiaphyseal dysplasia. ( 8060945 )
1994
13
Temporal bone findings in craniodiaphyseal dysplasia. ( 8172537 )
1993
14
Management and outcome of two pregnancies in a woman with craniodiaphyseal dysplasia. ( 1987972 )
1991
15
Craniodiaphyseal dysplasia. ( 2277386 )
1990
16
Craniodiaphyseal dysplasia. Partial suppression of osteoblastic activity in the severe progressive form with calcitonin therapy. ( 3450859 )
1987
17
Dominantly inherited craniodiaphyseal dysplasia: a new craniotubular dysplasia. ( 3802557 )
1986
18
Camurati-Engelmann disease (progressive hereditary craniodiaphyseal dysplasia). Case report. ( 619016 )
1978
19
Histologic, microradiographic and electron microscopic investigations of bone tissue in a case of craniodiaphyseal dysplasia. ( 139752 )
1977
20
Craniodiaphyseal dysplasia. ( 1201347 )
1975
21
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 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.97 CALCA CTNNB1 LDLR LRP5 LRP6 SOST
2
Show member pathways
12.76 CTNNB1 LRP5 LRP6 SOST WNT1 WNT3A
3 12.71 CTNNB1 LRP5 LRP6 TGFB1 WNT1 WNT3A
4
Show member pathways
12.64 CTNNB1 LRP5 LRP6 TGFB1 WNT1 WNT3A
5
Show member pathways
12.44 CTNNB1 LRP5 LRP6 WNT1 WNT3A
6
Show member pathways
12.41 LRP5 LRP6 WNT1 WNT3A
7
Show member pathways
12.39 CTNNB1 TGFB1 WNT1 WNT3A
8 12.35 CTNNB1 TGFB1 WNT1 WNT3A
9
Show member pathways
12.34 CTNNB1 TGFB1 WNT3A
10 12.33 CTNNB1 LRP5 LRP6 WNT1 WNT3A
11
Show member pathways
12.26 CALCA WNT1 WNT3A
12
Show member pathways
12.22 CTNNB1 WNT1 WNT3A
13 12.21 CTNNB1 TGFB1 WNT1 WNT3A
14 12.14 CTNNB1 LRP5 LRP6 TGFB1 WNT3A
15 12.08 CTNNB1 TGFB1 WNT1 WNT3A
16
Show member pathways
12.06 CTNNB1 LRP5 LRP6 TGFB1 WNT3A
17
Show member pathways
12.03 CTNNB1 TGFB1 WNT1 WNT3A
18 11.99 CTNNB1 WNT1 WNT3A
19 11.98 CTNNB1 WNT1 WNT3A
20 11.96 CTNNB1 TGFB1 WNT1
21 11.89 CTNNB1 LRP5 LRP6 WNT1
22 11.89 CTNNB1 LDLR TGFB1 WNT1 WNT3A
23
Show member pathways
11.86 CTNNB1 LRP5 LRP6 SOST WNT1 WNT3A
24 11.84 CTNNB1 WNT1 WNT3A
25
Show member pathways
11.67 CTNNB1 LDLR LRP5 LRP6 SOST WNT1
26 11.65 CTNNB1 LRP5 LRP6 TGFB1 WNT1 WNT3A
27 11.58 CTNNB1 TGFB1 WNT1
28
Show member pathways
11.55 CTNNB1 WNT1 WNT3A
29 11.53 CTNNB1 LRP5 LRP6
30 11.52 CTNNB1 LRP5 LRP6 TGFB1 WNT1
31 11.5 CTNNB1 WNT1 WNT3A
32 11.47 TGFB1 WNT1 WNT3A
33 11.44 CTNNB1 LRP6 WNT1
34 11.4 CTNNB1 TGFB1
35
Show member pathways
11.24 LRP5 LRP6 WNT3A
36 11.21 CTNNB1 TGFB1 WNT3A
37 11.19 CTNNB1 LRP5
38 11.15 TGFB1 WNT1
39 11.15 LRP5 LRP6 WNT1 WNT3A
40 11.05 CTNNB1 LRP5 LRP6 WNT1
41
Show member pathways
10.94 LRP5 LRP6 SOST WNT3A
42 10.92 CTNNB1 WNT1

GO Terms for Craniodiaphyseal Dysplasia

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

# 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 56)
# Name GO ID Score Top Affiliating Genes
1 regulation of receptor activity GO:0010469 9.96 CALCA TGFB1 WNT1 WNT3A
2 positive regulation of gene expression GO:0010628 9.93 CTNNB1 LDLR TGFB1 WNT3A
3 positive regulation of cell proliferation GO:0008284 9.93 CTNNB1 LRP5 TGFB1 WNT1 WNT3A
4 regulation of apoptotic process GO:0042981 9.89 CTNNB1 LRP5 TGFB1
5 negative regulation of gene expression GO:0010629 9.87 CTNNB1 LDLR TGFB1
6 endocytosis GO:0006897 9.85 LDLR LRP5 LRP6
7 positive regulation of protein phosphorylation GO:0001934 9.84 TGFB1 WNT1 WNT3A
8 positive regulation of canonical Wnt signaling pathway GO:0090263 9.83 LRP6 WNT1 WNT3A
9 positive regulation of transcription, DNA-templated GO:0045893 9.8 CTNNB1 LRP5 LRP6 SOST TGFB1 WNT1
10 negative regulation of cell differentiation GO:0045596 9.77 CTNNB1 TGFB1 WNT1
11 negative regulation of fat cell differentiation GO:0045599 9.73 TGFB1 WNT1 WNT3A
12 positive regulation of fibroblast proliferation GO:0048146 9.72 TGFB1 WNT1
13 negative regulation of BMP signaling pathway GO:0030514 9.72 SOST WNT1
14 positive regulation of DNA binding transcription factor activity GO:0051091 9.72 CTNNB1 LRP5 LRP6 WNT1 WNT3A
15 cellular protein localization GO:0034613 9.71 CTNNB1 WNT3A
16 positive regulation of epithelial to mesenchymal transition GO:0010718 9.71 CTNNB1 TGFB1
17 animal organ regeneration GO:0031100 9.71 TGFB1 WNT1
18 branching involved in ureteric bud morphogenesis GO:0001658 9.71 CTNNB1 WNT1
19 regulation of cell differentiation GO:0045595 9.71 CTNNB1 WNT3A
20 epithelial to mesenchymal transition GO:0001837 9.7 CTNNB1 TGFB1
21 response to radiation GO:0009314 9.7 LRP5 TGFB1
22 T cell differentiation GO:0030217 9.7 CTNNB1 TGFB1
23 mammary gland development GO:0030879 9.7 TGFB1 WNT3A
24 face morphogenesis GO:0060325 9.69 LRP6 TGFB1
25 negative regulation of protein serine/threonine kinase activity GO:0071901 9.69 LRP5 LRP6
26 T cell differentiation in thymus GO:0033077 9.68 CTNNB1 WNT1
27 positive regulation of mesenchymal cell proliferation GO:0002053 9.68 CTNNB1 LRP5
28 regulation of canonical Wnt signaling pathway GO:0060828 9.68 LRP5 LRP6
29 dopaminergic neuron differentiation GO:0071542 9.68 LRP6 WNT1
30 negative regulation of osteoclast differentiation GO:0045671 9.67 CALCA CTNNB1
31 gastrulation with mouth forming second GO:0001702 9.66 CTNNB1 LRP5
32 negative regulation of cell-cell adhesion GO:0022408 9.65 TGFB1 WNT1
33 spinal cord association neuron differentiation GO:0021527 9.65 WNT1 WNT3A
34 midbrain development GO:0030901 9.65 CTNNB1 WNT1 WNT3A
35 positive regulation of cardiac muscle cell differentiation GO:2000727 9.64 TGFB1 WNT3A
36 negative regulation of oxidative stress-induced neuron death GO:1903204 9.64 CTNNB1 WNT1
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 9.59 LRP5 LRP6
45 midbrain-hindbrain boundary development GO:0030917 9.58 LRP6 WNT1
46 canonical Wnt signaling pathway involved in negative regulation of apoptotic process GO:0044336 9.58 CTNNB1 WNT1
47 midbrain dopaminergic neuron differentiation GO:1904948 9.58 CTNNB1 LRP6 WNT1
48 canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904954 9.57 CTNNB1 WNT1
49 canonical Wnt signaling pathway GO:0060070 9.55 CTNNB1 LRP5 LRP6 WNT1 WNT3A
50 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904953 9.54 LRP6 WNT1 WNT3A

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

# 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 ligand 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 transmembrane transporter activity GO:0019534 9.26 LRP5 LRP6
8 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 8.96 LRP5 LRP6
9 coreceptor activity involved in Wnt signaling pathway GO:0071936 8.62 LRP5 LRP6

Sources for Craniodiaphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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