CDD
MCID: CRN220
MIFTS: 31

Craniodiaphyseal Dysplasia, Autosomal Dominant (CDD)

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

Aliases & Classifications for Craniodiaphyseal Dysplasia, Autosomal Dominant

MalaCards integrated aliases for Craniodiaphyseal Dysplasia, Autosomal Dominant:

Name: Craniodiaphyseal Dysplasia, Autosomal Dominant 58 30 13 6
Schaefer Stein Oshman Syndrome 76 74
Cdd 58 76
Craniodiaphyseal Dysplasia Autosomal Dominant 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
progressive disorder
often results in death in childhood


HPO:

33
craniodiaphyseal dysplasia, autosomal dominant:
Onset and clinical course infantile onset progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Craniodiaphyseal Dysplasia, Autosomal Dominant

OMIM : 58 Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011). (122860)

MalaCards based summary : Craniodiaphyseal Dysplasia, Autosomal Dominant, also known as schaefer stein oshman syndrome, is related to schaefer stein oshman syndrome and craniodiaphyseal dysplasia. An important gene associated with Craniodiaphyseal Dysplasia, Autosomal Dominant is SOST (Sclerostin). Affiliated tissues include bone, kidney and heart, and related phenotypes are macrocephaly and hypertelorism

UniProtKB/Swiss-Prot : 76 Craniodiaphyseal dysplasia autosomal dominant: A severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine faces) and the bone deposition results in progressive stenosis of craniofacial foramina. Respiratory obstruction due to choanal stenosis compromises the clinical outcomes of affected patients.

Related Diseases for Craniodiaphyseal Dysplasia, Autosomal Dominant

Diseases in the Craniodiaphyseal Dysplasia family:

Craniodiaphyseal Dysplasia, Autosomal Dominant

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

# Related Disease Score Top Affiliating Genes
1 schaefer stein oshman syndrome 12.7
2 craniodiaphyseal dysplasia 12.1
3 childhood disintegrative disease 11.5
4 diarrhea 10.1
5 charles bonnet syndrome 10.1

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



Diseases related to Craniodiaphyseal Dysplasia, Autosomal Dominant

Symptoms & Phenotypes for Craniodiaphyseal Dysplasia, Autosomal Dominant

Human phenotypes related to Craniodiaphyseal Dysplasia, Autosomal Dominant:

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 hypertelorism 33 HP:0000316
3 mandibular prognathia 33 HP:0000303
4 hearing impairment 33 HP:0000365
5 increased intracranial pressure 33 HP:0002516
6 craniofacial hyperostosis 33 HP:0004493
7 depressed nasal bridge 33 HP:0005280
8 wide nasal bridge 33 HP:0000431
9 optic atrophy 33 HP:0000648
10 short stature 33 HP:0004322
11 concave nasal ridge 33 HP:0011120
12 progressive visual loss 33 HP:0000529
13 headache 33 HP:0002315
14 elevated circulating parathyroid hormone level 33 HP:0003165
15 papilledema 33 HP:0001085
16 facial diplegia 33 HP:0001349
17 choanal stenosis 33 HP:0000452
18 elevated alkaline phosphatase 33 HP:0003155
19 craniofacial osteosclerosis 33 HP:0005464
20 diaphyseal sclerosis 33 HP:0003034
21 thickened ribs 33 HP:0000900
22 cortical sclerosis 33 HP:0005652

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
increased intracranial pressure
headaches

Skeletal:
hyperostosis
increased bone mineral density

Head And Neck Face:
facial diplegia
prominent mandible
leonine facies

Skeletal Limbs:
diaphyseal sclerosis
undertubulation of the long bones of the legs

Head And Neck Ears:
hearing loss, progressive

Chest Ribs Sternum Clavicles And Scapulae:
thickened ribs
sclerotic ribs

Head And Neck Eyes:
hypertelorism
papilledema
optic nerve atrophy
visual loss, progressive

Growth Height:
short stature

Skeletal Skull:
hyperostosis
osteosclerosis
facial bone hyperplasia
obliteration of the sinuses, middle ear cavities, internal acoustic canals, and optic nerve canals
cortical sclerosis of facial bones
more
Head And Neck Nose:
choanal stenosis
saddle nose
broad flat nasal bridge

Laboratory Abnormalities:
increased serum parathyroid hormone
increased serum alkaline phosphatase

Respiratory Nasopharynx:
difficulty breathing through the nostrils
respiratory obstruction

Clinical features from OMIM:

122860

Drugs & Therapeutics for Craniodiaphyseal Dysplasia, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Craniodiaphyseal Dysplasia, Autosomal Dominant

Genetic Tests for Craniodiaphyseal Dysplasia, Autosomal Dominant

Genetic tests related to Craniodiaphyseal Dysplasia, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Craniodiaphyseal Dysplasia, Autosomal Dominant 30 SOST

Anatomical Context for Craniodiaphyseal Dysplasia, Autosomal Dominant

MalaCards organs/tissues related to Craniodiaphyseal Dysplasia, Autosomal Dominant:

42
Bone, Kidney, Heart, Breast, Pituitary, Monocytes, Cortex

Publications for Craniodiaphyseal Dysplasia, Autosomal Dominant

Articles related to Craniodiaphyseal Dysplasia, Autosomal Dominant:

(show top 50) (show all 59)
# Title Authors Year
1
Ethylene-independent promotion of photomorphogenesis in the dark by cytokinin requires COP1 and the CDD complex. ( 30272197 )
2019
2
Construction of Mycobacterium tuberculosis cdd knockout and evaluation of invasion and growth in macrophages. ( 29091140 )
2017
3
The CDD System in Computed Tomographic Diagnosis of Diverticular Disease. ( 28651260 )
2017
4
CDD/SPARCLE: functional classification of proteins via subfamily domain architectures. ( 27899674 )
2017
5
Chemoprotection of murine hematopoietic cells by combined gene transfer of cytidine deaminase (CDD) and multidrug resistance 1 gene (MDR1). ( 26651614 )
2015
6
CDD: NCBI's conserved domain database. ( 25414356 )
2015
7
Familial aggregation of chronic diarrhea disease (CDD) in rhesus macaques (Macaca mulatta). ( 24532180 )
2014
8
The Collaborative Drug Discovery (CDD) database. ( 23568469 )
2013
9
CDD: conserved domains and protein three-dimensional structure. ( 23197659 )
2013
10
A CDD polymorphism as predictor of capecitabine-induced hand-foot syndrome--letter. ( 22215908 )
2012
11
The selective M1 muscarinic cholinergic agonist CDD-0102A enhances working memory and cognitive flexibility. ( 22135384 )
2012
12
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. ( 21221996 )
2011
13
CDD: a Conserved Domain Database for the functional annotation of proteins. ( 21109532 )
2011
14
CDD: specific functional annotation with the Conserved Domain Database. ( 18984618 )
2009
15
A boy with severe craniodiaphyseal dysplasia and apparently normal mother. ( 17853455 )
2007
16
CDD: a conserved domain database for interactive domain family analysis. ( 17135202 )
2007
17
Design and synthesis of novel derivatives of the muscarinic agonist tetra(ethylene glycol)(3-methoxy-1,2,5-thiadiazol-4-yl) [3-(1-methyl-1,2,5,6-tetrahydropyrid-3-yl)-1,2,5-thiadiazol-4-yl] ether (CDD-0304): effects of structural modifications on the binding and activity at muscarinic receptor subtypes and chimeras. ( 17149881 )
2006
18
Arabidopsis CULLIN4 Forms an E3 Ubiquitin Ligase with RBX1 and the CDD Complex in Mediating Light Control of Development. ( 16844902 )
2006
19
Early work on the ubiquitin proteasome system, an interview with Aaron Ciechanover. Interview by CDD. ( 16094393 )
2005
20
Early work on the ubiquitin proteasome system, an interview with Irwin Rose. Interview by CDD. ( 16094392 )
2005
21
Early work on the ubiquitin proteasome system, an interview with Avram Hershko. Interview by CDD. ( 16094391 )
2005
22
The processing of the selective M1 agonist CDD-0102-J by human hepatic drug metabolizing enzymes. ( 16041192 )
2005
23
Metal-mediated chlorinated dibenzo-p-dioxin (CDD) and dibenzofuran (CDF) formation from phenols. ( 15639270 )
2005
24
CDD: a Conserved Domain Database for protein classification. ( 15608175 )
2005
25
CDD: a curated Entrez database of conserved domain alignments. ( 12520028 )
2003
26
Predicting gene ontology functions from ProDom and CDD protein domains. ( 11932249 )
2002
27
CDD: a database of conserved domain alignments with links to domain three-dimensional structure. ( 11752315 )
2002
28
Mono- to tri-chlorinated dibenzodioxin (CDD) and dibenzofuran (CDF) congeners/homologues as indicators of CDD and CDF emissions from municipal waste and waste/coal combustion. ( 10739040 )
2000
29
Ribosomal -1 frameshifting during decoding of Bacillus subtilis cdd occurs at the sequence CGA AAG. ( 10217788 )
1999
30
A rearrangement of the CDD gene at the 5' UTR produces two types of transcripts that contain a natural antisense region. ( 9870609 )
1998
31
A combination of three mutations, dcd, pyrH, and cdd, establishes thymidine (Deoxyuridine) auxotrophy in thyA+ strains of Salmonella typhimurium. ( 9811646 )
1998
32
Isolation of the Bacillus subtilis cdd downstream region and analysis of genetic structure around the cdd vicinity. ( 9387153 )
1997
33
Pituitary adenylate cyclase-activating polypeptide stimulates cardiodilatin/atrial natriuretic peptide (CDD/ANP-(99-126) secretion from cultured neonatal rat myocardiocytes. ( 8719418 )
1995
34
Diarrhoeal disease control (CDD) programme. Health facility survey. ( 8018516 )
1994
35
Diarrhoeal Disease Control (CDD) programme. Health worker performance in interpersonal communication skills. ( 7841029 )
1994
36
Diarrhoeal disease control (CDD) and acute respiratory infections (ARI). Combined CDD/ARI/breast-feeding survey, 1992. ( 8485040 )
1993
37
Cloning of a functional cDNA for human cytidine deaminase (CDD) and its use as a marker of monocyte/macrophage differentiation. ( 8422236 )
1993
38
Development and application of a urodilatin (CDD/ANP-95-126)-specific radioimmunoassay. ( 8351194 )
1993
39
Diarrhoeal Disease Control (CDD) Programme. ( 8280583 )
1993
40
Ewing's tumor X mouse hybrids expressing the MIC2 antigen: analyses using fluorescence CDD-banding and non-isotopic ISH. ( 1733829 )
1992
41
The cAMP-CRP/CytR nucleoprotein complex in Escherichia coli: two pairs of closely linked binding sites for the cAMP-CRP activator complex are involved in combinatorial regulation of the cdd promoter. ( 1327747 )
1992
42
Diarrhoeal disease control (CDD) programme. ( 1931579 )
1991
43
Large inversion in Escherichia coli K-12 1485IN between inversely oriented IS3 elements near lac and cdd. ( 1661252 )
1991
44
Demonstration of the storage form of cardiac hormones by the use of segment-specific antibodies against human cardiodilatin/human atrial natriuretic peptide (CDD/hANP). ( 2150445 )
1990
45
Localization of atrial natriuretic peptide/cardiodilatin (ANP/CDD)-immunoreactivity in the lacrimal gland of the domestic pig. ( 2138565 )
1990
46
Cooperation between health programmers and health professionals: a CDD experience. ( 2077465 )
1990
47
Breastfeeding as an intervention within diarrheal diseases control programs: WHO/CDD activities. ( 1972071 )
1990
48
Mutual benefits of linking CDD and Nutrition Programs. ( 2812829 )
1989
49
CRP/cAMP- and CytR-regulated promoters in Escherichia coli K12: the cdd promoter. ( 2575702 )
1989
50
Phosphorylation and dephosphorylation of the natriuretic peptide urodilatin (CDD-/ANP-95-126) and the effect on biological activity. ( 2528951 )
1989

Variations for Craniodiaphyseal Dysplasia, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Craniodiaphyseal Dysplasia, Autosomal Dominant:

76
# Symbol AA change Variation ID SNP ID
1 SOST p.Val21Leu VAR_065766
2 SOST p.Val21Met VAR_065767 rs387907169

ClinVar genetic disease variations for Craniodiaphyseal Dysplasia, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SOST SOST, VAL21LEU single nucleotide variant Pathogenic
2 SOST NM_025237.2(SOST): c.61G> A (p.Val21Met) single nucleotide variant Pathogenic rs387907169 GRCh38 Chromosome 17, 43758681: 43758681
3 SOST NM_025237.2(SOST): c.61G> A (p.Val21Met) single nucleotide variant Pathogenic rs387907169 GRCh37 Chromosome 17, 41836049: 41836049

Expression for Craniodiaphyseal Dysplasia, Autosomal Dominant

Search GEO for disease gene expression data for Craniodiaphyseal Dysplasia, Autosomal Dominant.

Pathways for Craniodiaphyseal Dysplasia, Autosomal Dominant

GO Terms for Craniodiaphyseal Dysplasia, Autosomal Dominant

Sources for Craniodiaphyseal Dysplasia, Autosomal Dominant

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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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