CDD
MCID: CRN013
MIFTS: 43

Craniodiaphyseal Dysplasia (CDD)

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

Aliases & Classifications for Craniodiaphyseal Dysplasia

MalaCards integrated aliases for Craniodiaphyseal Dysplasia:

Name: Craniodiaphyseal Dysplasia 57 12 73 20 58 44 15
Cdd 57

Characteristics:

Orphanet epidemiological data:

58
craniodiaphyseal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
craniodiaphyseal dysplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080032
OMIM® 57 218300
MeSH 44 C562940
ICD10 via Orphanet 33 M85.2
UMLS via Orphanet 71 C0410539
Orphanet 58 ORPHA1513
MedGen 41 C0410539

Summaries for Craniodiaphyseal Dysplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1513 Definition Craniodiaphyseal 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.

MalaCards based summary : Craniodiaphyseal Dysplasia, also known as cdd, is related to hyperostosis and sclerosteosis. An important gene associated with Craniodiaphyseal Dysplasia is SOST (Sclerostin), and among its related pathways/superpathways are Signaling by Wnt and mTOR signaling pathway (KEGG). Affiliated tissues include skull which decreases the size of cranium foramina, bone and brain, and related phenotypes are macrocephaly and intellectual disability

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 : 73 Craniodiaphyseal dysplasia (CDD), also known as lionitis, is an extremely rare autosomal recessive bone... more...

More information from OMIM: 218300

Related Diseases for Craniodiaphyseal Dysplasia

Diseases in the Craniodiaphyseal Dysplasia family:

Craniodiaphyseal Dysplasia, Autosomal Dominant

Diseases related to Craniodiaphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 hyperostosis 30.6 SOST PTDSS1 LRP5 ANKH
2 sclerosteosis 30.3 SOST LRP5 DKK1
3 camurati-engelmann disease 30.3 LRP5 ANKH
4 van buchem disease 30.2 SOST LRP5 DKK1
5 bone disease 29.5 SOST LRP5 DKK1 CLCN7 ANKH
6 craniometaphyseal dysplasia, autosomal dominant 29.1 TCIRG1 SOST SNX10 PLEKHM1 CLCN7 ANKH
7 craniodiaphyseal dysplasia, autosomal dominant 11.7
8 schaefer stein oshman syndrome 11.3
9 childhood disintegrative disease 11.2
10 lenz-majewski hyperostotic dwarfism 11.1
11 pervasive developmental disorder 10.9
12 overgrowth syndrome 10.2
13 slate pneumoconiosis 10.2 PTDSS1 LRP5
14 cenani-lenz syndactyly syndrome 10.2 SOST LRP5
15 hydrocephalus 10.1
16 sost-related sclerosing bone dysplasias 10.1
17 facial nerve disease 10.1 SOST LRP5 ANKH
18 facial paralysis 10.1 SOST LRP5 ANKH
19 kummell's disease 10.1 SOST DKK1
20 osteopetrosis, autosomal dominant 1 10.1 LRP5 CLCN7
21 central centrifugal cicatricial alopecia 10.1
22 sclerosteosis 2 10.0 SOST RSPO2 LRP5
23 axial osteomalacia 10.0 TCIRG1 CLCN7
24 fibrogenesis imperfecta ossium 10.0 TCIRG1 CLCN7
25 osteopetrosis, autosomal recessive 1 10.0 TCIRG1 CLCN7
26 sclerosteosis 1 10.0 SOST LRP5 DKK1
27 osteopetrosis, autosomal dominant 2 10.0 TCIRG1 CLCN7
28 yemenite deaf-blind hypopigmentation syndrome 10.0
29 bone mineral density quantitative trait locus 1 10.0
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
31 brain compression 10.0
32 hyperparathyroidism 10.0
33 papilledema 10.0
34 dacryoadenitis 10.0
35 dacryocystitis 10.0
36 primary bone dysplasia with increased bone density 10.0
37 osteopetrosis, autosomal recessive 4 10.0 TCIRG1 CLCN7
38 osteoporosis-pseudoglioma syndrome 10.0 SOST LRP5 DKK1
39 osteopetrosis, autosomal recessive 7 10.0 TCIRG1 CLCN7
40 osteoporosis, juvenile 10.0 SOST LRP5 DKK1
41 bone resorption disease 10.0 SOST LRP5 DKK1
42 ischemic bone disease 9.9 SOST DKK1
43 brittle bone disorder 9.9 SOST LRP5 DKK1
44 leukemia, acute myeloid 9.9
45 diarrhea 9.9
46 cdkl5 deficiency disorder 9.9
47 encephalopathy 9.9
48 nail disorder, nonsyndromic congenital, 4 9.9 RSPO4 RSPO2
49 osteopetrosis, autosomal recessive 5 9.9 TCIRG1 LRP5 CLCN7
50 autosomal recessive malignant osteopetrosis 9.9 TCIRG1 SNX10 CLCN7

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:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
4 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
5 craniofacial hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004493
6 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
7 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
8 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
9 diaphyseal thickening 58 31 hallmark (90%) Very frequent (99-80%) HP:0005019
10 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
11 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
12 stenosis of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000402
13 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
14 diaphyseal dysplasia 31 HP:0100252
15 facial hyperostosis 31 HP:0005465
16 diaphyseal sclerosis 31 HP:0003034

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skull:
cranial hyperostosis

H E E N T:
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Craniodiaphyseal Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 ANKH AXIN2 CLCN7 DKK1 LRP5 PLEKHM1
2 growth/size/body region MP:0005378 10.02 ANKH AXIN2 CLCN7 DKK1 LRP5 RSPO2
3 craniofacial MP:0005382 10.01 ANKH AXIN2 CLCN7 DKK1 LRP5 RSPO2
4 homeostasis/metabolism MP:0005376 9.97 ANKH CLCN7 DKK1 LRP5 PTDSS1 RSPO2
5 limbs/digits/tail MP:0005371 9.96 ANKH AXIN2 CLCN7 DKK1 LRP5 PLEKHM1
6 mortality/aging MP:0010768 9.81 ANKH AXIN2 CLCN7 DKK1 LRP5 PTDSS1
7 normal MP:0002873 9.43 AXIN2 CLCN7 LRP5 PLEKHM1 SOST TCIRG1
8 skeleton MP:0005390 9.32 ANKH AXIN2 CLCN7 DKK1 LRP5 PLEKHM1

Drugs & Therapeutics for Craniodiaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Craniodiaphyseal Dysplasia

Cochrane evidence based reviews: craniodiaphyseal dysplasia

Genetic Tests for Craniodiaphyseal Dysplasia

Anatomical Context for Craniodiaphyseal Dysplasia

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

19
Skull Which Decreases The Size Of Cranium Foramina

MalaCards organs/tissues related to Craniodiaphyseal Dysplasia:

40
Bone, Brain, Myeloid, Skin

Publications for Craniodiaphyseal Dysplasia

Articles related to Craniodiaphyseal Dysplasia:

(show all 36)
# Title Authors PMID Year
1
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. 61 6
21221996 2011
2
A boy with severe craniodiaphyseal dysplasia and apparently normal mother. 6 61
17853455 2007
3
Craniodiaphyseal dysplasia. 61 57
2277386 1990
4
Craniodiaphyseal dysplasia, a disease or group of diseases? 57 61
4823202 1974
5
A rare case of bone dystrophy. 57
18135657 1949
6
Craniodiaphyseal dysplasia: A Rare And Successful Bone-Anchored Hearing Aid Implantation. 61
31132523 2019
7
Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia. 61
28973168 2017
8
Sclerostin: Intracellular mechanisms of action and its role in the pathogenesis of skeletal and vascular disorders. 61
29264888 2017
9
Reversing LRP5-dependent osteoporosis and SOST deficiency-induced sclerosing bone disorders by altering WNT signaling activity. 61
23901037 2014
10
Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother. 61
23295610 2012
11
Acquired Chiari malformation secondary to hyperostosis of the skull: a case report and literature review. 61
18514293 2009
12
The Erlenmeyer flask bone deformity in the skeletal dysplasias. 61
19444897 2009
13
Craniodiaphyseal dysplasia: an unusual cause of recurrent dacryocystitis. 61
17456942 2007
14
MR imaging features of craniodiaphyseal dysplasia. 61
14530887 2004
15
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia? 61
14564212 2003
16
Stenosis of the cervical canal in craniodiaphyseal dysplasia. 61
11341413 2001
17
[Craniodiaphyseal dysplasia, Lenz-Majewski type]. 61
11462541 2001
18
[Craniodiaphyseal dysplasia]. 61
11462540 2001
19
Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-like syndrome. 61
9215775 1997
20
Intracranial and extracranial reduction osteoplasty for craniodiaphyseal dysplasia. 61
8827383 1996
21
Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management. 61
8733453 1996
22
Craniodiaphyseal dysplasia; another cause of difficult intubation. 61
8732615 1996
23
Nasolacrimal obstruction and facial bone histopathology in craniodiaphyseal dysplasia. 61
8060945 1994
24
Bone scan findings in craniometaphyseal dysplasia. 61
8432058 1993
25
Temporal bone findings in craniodiaphyseal dysplasia. 61
8172537 1993
26
Management and outcome of two pregnancies in a woman with craniodiaphyseal dysplasia. 61
1987972 1991
27
Sclerosing bone dysplasias--a target-site approach. 61
1776023 1991
28
[A case of craniodiaphyseal dysplasia]. 61
2910334 1989
29
Craniodiaphyseal dysplasia. Partial suppression of osteoblastic activity in the severe progressive form with calcitonin therapy. 61
3450859 1987
30
Dominantly inherited craniodiaphyseal dysplasia: a new craniotubular dysplasia. 61
3802557 1986
31
[Hydrocephalus and craniodiaphyseal dysplasia (author's transl)]. 61
550201 1979
32
"Osteopetrosis" in the Fairbank Collection. 61
342533 1978
33
Camurati-Engelmann disease (progressive hereditary craniodiaphyseal dysplasia). Case report. 61
619016 1978
34
Histologic, microradiographic and electron microscopic investigations of bone tissue in a case of craniodiaphyseal dysplasia. 61
139752 1977
35
The skull in metaphyseal chondrodysplasia type Jansen. 61
1233427 1975
36
Craniodiaphyseal dysplasia. 61
1201347 1975

Variations for Craniodiaphyseal Dysplasia

ClinVar genetic disease variations for Craniodiaphyseal Dysplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOST NM_025237.3(SOST):c.61G>T (p.Val21Leu) SNV Pathogenic 31593 rs387907169 GRCh37: 17:41836049-41836049
GRCh38: 17:43758681-43758681
2 SOST NM_025237.3(SOST):c.61G>A (p.Val21Met) SNV Pathogenic 31592 rs387907169 GRCh37: 17:41836049-41836049
GRCh38: 17:43758681-43758681

Expression for Craniodiaphyseal Dysplasia

Search GEO for disease gene expression data for Craniodiaphyseal Dysplasia.

Pathways for Craniodiaphyseal Dysplasia

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 endosome membrane GO:0010008 8.8 TCIRG1 SNX10 PLEKHM1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of Wnt signaling pathway GO:0030178 9.54 SOST DKK1
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.54 SOST DKK1 AXIN2
3 negative regulation of osteoblast differentiation GO:0045668 9.52 LRP5 AXIN2
4 positive regulation of cell death GO:0010942 9.51 DKK1 AXIN2
5 limb development GO:0060173 9.49 RSPO2 DKK1
6 bone mineralization GO:0030282 9.48 RSPO2 AXIN2
7 positive regulation of Wnt signaling pathway GO:0030177 9.46 RSPO4 RSPO2
8 odontogenesis GO:0042476 9.43 TCIRG1 AXIN2
9 osteoclast differentiation GO:0030316 9.4 TCIRG1 SNX10
10 bone resorption GO:0045453 9.32 TCIRG1 SNX10
11 negative regulation of ossification GO:0030279 9.26 SOST DKK1
12 bone remodeling GO:0046849 9.16 SNX10 LRP5
13 Wnt signaling pathway GO:0016055 9.1 SOST RSPO4 RSPO2 LRP5 DKK1 AXIN2
14 tooth eruption GO:0044691 8.96 TCIRG1 SNX10

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 8.8 SOST RSPO4 RSPO2

Sources for Craniodiaphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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