CDL
MCID: CLV014
MIFTS: 34

Calvarial Doughnut Lesions with Bone Fragility (CDL)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Calvarial Doughnut Lesions with Bone Fragility

MalaCards integrated aliases for Calvarial Doughnut Lesions with Bone Fragility:

Name: Calvarial Doughnut Lesions with Bone Fragility 57 11 73 14
Calvarial Doughnut Lesions with Bone Fragility with or Without Spondylometaphyseal Dysplasia 57 28 5 38
Calvarial Doughnut Lesions-Bone Fragility Syndrome 58 28 5 75
Calvarial Doughnut Lesions with Bone Fragility and Spondylometaphyseal Dysplasia 73 5
Doughnut Lesions of Skull, Familial 57 73
Cdl 57 73
Familial Doughnut Lesions of Skull 58
Cdlsmd 73

Characteristics:


Inheritance:

Calvarial Doughnut Lesions with Bone Fragility: Autosomal dominant 57
Calvarial Doughnut Lesions-Bone Fragility Syndrome: Autosomal dominant 58

Prevelance:

Calvarial Doughnut Lesions-Bone Fragility Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Calvarial Doughnut Lesions-Bone Fragility Syndrome: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
patients with gain-of-function mutations exhibit a more severe phenotype, including fractures at birth, severe short stature, and spondylometaphyseal dysplasia


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0080721
OMIM® 57 126550
MeSH 43 D001847
ICD10 via Orphanet 32 M85.8
UMLS via Orphanet 72 C1852022
Orphanet 58 ORPHA85192
MedGen 40 C1852022

Summaries for Calvarial Doughnut Lesions with Bone Fragility

OMIM®: 57 Calvarial doughnut lesions with bone fragility (CDL) is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. Some more severely affected individuals exhibit neonatal onset of fractures, severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia (CDLSMD) (Pekkinen et al., 2019). (126550) (Updated 08-Dec-2022)

MalaCards based summary: Calvarial Doughnut Lesions with Bone Fragility, also known as calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, is related to cornelia de lange syndrome 1 and bone mineral density quantitative trait locus 3. An important gene associated with Calvarial Doughnut Lesions with Bone Fragility is SGMS2 (Sphingomyelin Synthase 2), and among its related pathways/superpathways is Glycerolipids and glycerophospholipids. Affiliated tissues include bone, and related phenotypes are motor delay and platyspondyly

UniProtKB/Swiss-Prot 73 Calvarial doughnut lesions with bone fragility: A rare autosomal dominant bone disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. Patients present with childhood onset of primary osteoporosis and typical sclerotic doughnut-shaped lesions in the cranial bones.

Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia: A severe form of calvarial doughnut lesions with bone fragility, a rare autosomal dominant disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. CDLSMD patients show neonatal onset of fractures, severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia.

Orphanet: 58 A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia.

Disease Ontology: 11 An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones.

Wikipedia: 75 Calvarial doughnut lesions-bone fragility syndrome, also known as Familial calvarial doughnut lesions,... more...

Related Diseases for Calvarial Doughnut Lesions with Bone Fragility

Diseases related to Calvarial Doughnut Lesions with Bone Fragility via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 1 11.0
2 bone mineral density quantitative trait locus 3 10.3
3 dental caries 10.0
4 acute pancreatitis 10.0
5 turner syndrome 10.0
6 pancreatitis 10.0
7 chronic kidney disease 10.0
8 spondylometaphyseal dysplasia with cone-rod dystrophy 9.8 SGMS2 PTDSS1 PCYT1A
9 lenz-majewski hyperostotic dwarfism 9.7 SGMS2 PTDSS1 PCYT1A
10 spondylometaphyseal dysplasia, corner fracture type 9.7 PTDSS1 CYP26C1

Graphical network of the top 20 diseases related to Calvarial Doughnut Lesions with Bone Fragility:



Diseases related to Calvarial Doughnut Lesions with Bone Fragility

Symptoms & Phenotypes for Calvarial Doughnut Lesions with Bone Fragility

Human phenotypes related to Calvarial Doughnut Lesions with Bone Fragility:

30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 motor delay 30 Very rare (1%) HP:0001270
2 platyspondyly 30 Very rare (1%) HP:0000926
3 severe short stature 30 Very rare (1%) HP:0003510
4 femoral bowing 30 Very rare (1%) HP:0002980
5 mixed hearing impairment 30 Very rare (1%) HP:0000410
6 scoliosis 30 HP:0002650
7 osteopenia 30 HP:0000938
8 carious teeth 30 HP:0000670
9 thickened calvaria 30 HP:0002684
10 osteoporosis 30 HP:0000939
11 recurrent fractures 30 HP:0002757
12 elevated circulating alkaline phosphatase concentration 30 HP:0003155

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal:
osteopenia
osteoporosis

Growth Height:
short stature, severe (in some patients)

Skeletal Spine:
multiple vertebral fractures
platyspondyly (in some patients)
scoliosis, mild to severe

Skeletal Hands:
carpal fractures
metacarpal fractures

Neurologic Peripheral Nervous System:
cranial nerve palsies, recurrent (in some patients)

Skeletal Skull:
calvarial thickening
multiple hyperostotic or osteosclerotic lesions of calvarium
lytic lesions of calvarium
'doughnut' lesions of skull
thickened skull base

Head And Neck Ears:
hearing loss, mixed (in some patients)

Skeletal Limbs:
multiple fractures (low-energy)
femoral bowing (in some patients)

Neurologic Central Nervous System:
motor delay (in some patients)

Clinical features from OMIM®:

126550 (Updated 08-Dec-2022)

Drugs & Therapeutics for Calvarial Doughnut Lesions with Bone Fragility

Search Clinical Trials, NIH Clinical Center for Calvarial Doughnut Lesions with Bone Fragility

Genetic Tests for Calvarial Doughnut Lesions with Bone Fragility

Genetic tests related to Calvarial Doughnut Lesions with Bone Fragility:

# Genetic test Affiliating Genes
1 Calvarial Doughnut Lesions-Bone Fragility Syndrome 28 SGMS2
2 Calvarial Doughnut Lesions with Bone Fragility with or Without Spondylometaphyseal Dysplasia 28

Anatomical Context for Calvarial Doughnut Lesions with Bone Fragility

Organs/tissues related to Calvarial Doughnut Lesions with Bone Fragility:

MalaCards : Bone

Publications for Calvarial Doughnut Lesions with Bone Fragility

Articles related to Calvarial Doughnut Lesions with Bone Fragility:

# Title Authors PMID Year
1
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. 57 5
30779713 2019
2
Calvarial doughnut lesions and osteoporosis: a new three-generation family and review. 57 5
19839042 2009
3
Calvarial "doughnut lesions": clinical spectrum of the syndrome, report on a case, and review of the literature. 57
11241496 2001
4
Fragile bone syndrome associated with craniognathic fibro-osseous lesions and abnormal modeling of the tubular bones: report of two cases and review of the literature. 57
8958616 1996
5
Calvarial doughnut lesions with osteoporosis, multiple fractures, dentinogenesis imperfecta and tumorous changes in the jaws. (Report of a case). 57
6517811 1984
6
Familial "doughnut" lesions of the skull. A benign, hereditary dysplasia. 57
1265267 1976
7
Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature. 62
34504906 2021

Variations for Calvarial Doughnut Lesions with Bone Fragility

ClinVar genetic disease variations for Calvarial Doughnut Lesions with Bone Fragility:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP2U1-AS1, SGMS2 NM_001375905.1(SGMS2):c.185T>G (p.Ile62Ser) SNV Pathogenic
635286 rs1560667512 GRCh37: 4:108816894-108816894
GRCh38: 4:107895738-107895738
2 CYP2U1-AS1, SGMS2 NM_001375905.1(SGMS2):c.191T>G (p.Met64Arg) SNV Pathogenic
635287 rs1560667521 GRCh37: 4:108816900-108816900
GRCh38: 4:107895744-107895744
3 CYP2U1-AS1, SGMS2 NM_001375905.1(SGMS2):c.148C>T (p.Arg50Ter) SNV Pathogenic
Pathogenic
635285 rs1560667389 GRCh37: 4:108816857-108816857
GRCh38: 4:107895701-107895701

Expression for Calvarial Doughnut Lesions with Bone Fragility

Search GEO for disease gene expression data for Calvarial Doughnut Lesions with Bone Fragility.

Pathways for Calvarial Doughnut Lesions with Bone Fragility

Pathways related to Calvarial Doughnut Lesions with Bone Fragility according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.95 PTDSS1 PCYT1A

GO Terms for Calvarial Doughnut Lesions with Bone Fragility

Biological processes related to Calvarial Doughnut Lesions with Bone Fragility according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.26 SGMS2 PTDSS1 PCYT1A CYP26C1
2 phospholipid biosynthetic process GO:0008654 8.62 PTDSS1 PCYT1A

Sources for Calvarial Doughnut Lesions with Bone Fragility

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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