CDL
MCID: CLV014
MIFTS: 27

Calvarial Doughnut Lesions with Bone Fragility (CDL)

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

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 56 73
Doughnut Lesions of Skull, Familial 56 73 6
Calvarial Doughnut Lesions with Bone Fragility and Spondylometaphyseal Dysplasia 73 6
Cdl 56 73
Calvarial Doughnut Lesions with Bone Fragility with or Without Spondylometaphyseal Dysplasia 56
Calvarial Doughnut Lesions-Bone Fragility Syndrome 58
Familial Doughnut Lesions of Skull 58
Cdlsmd 73

Characteristics:

Orphanet epidemiological data:

58
calvarial doughnut lesions-bone fragility syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
patients with gain-of-function mutations exhibit a more severe phenotype, including fractures at birth, severe short stature, and spondylometaphyseal dysplasia


HPO:

31
calvarial doughnut lesions with bone fragility:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 126550
MeSH 43 D001847
ICD10 via Orphanet 33 M85.8
UMLS via Orphanet 72 C1852022
Orphanet 58 ORPHA85192
MedGen 41 C1852022

Summaries for Calvarial Doughnut Lesions with Bone Fragility

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.

MalaCards based summary : Calvarial Doughnut Lesions with Bone Fragility, also known as doughnut lesions of skull, familial, is related to cornelia de lange syndrome and cornelia de lange syndrome 1. An important gene associated with Calvarial Doughnut Lesions with Bone Fragility is SGMS2 (Sphingomyelin Synthase 2). Affiliated tissues include bone and kidney, and related phenotypes are platyspondyly and motor delay

OMIM : 56 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)

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:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 12.4
2 cornelia de lange syndrome 1 12.3
3 cornelia de lange syndrome 2 11.2
4 retinitis pigmentosa 11 10.4
5 kbg syndrome 10.3
6 cornelia de lange syndrome 3 10.3
7 alacrima, achalasia, and mental retardation syndrome 10.3
8 polyhydramnios 10.3
9 trichorhinophalangeal syndrome 10.3
10 microcephaly 10.1
11 dental caries 10.1
12 acute pancreatitis 10.1
13 pancreatitis 10.1
14 chronic kidney disease 10.1

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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 platyspondyly 31 very rare (1%) HP:0000926
2 motor delay 31 very rare (1%) HP:0001270
3 severe short stature 31 very rare (1%) HP:0003510
4 femoral bowing 31 very rare (1%) HP:0002980
5 mixed hearing impairment 31 very rare (1%) HP:0000410
6 scoliosis 31 HP:0002650
7 osteopenia 31 HP:0000938
8 carious teeth 31 HP:0000670
9 thickened calvaria 31 HP:0002684
10 osteoporosis 31 HP:0000939
11 recurrent fractures 31 HP:0002757
12 elevated alkaline phosphatase 31 HP:0003155

Symptoms via clinical synopsis from OMIM:

56
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

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

Anatomical Context for Calvarial Doughnut Lesions with Bone Fragility

MalaCards organs/tissues related to Calvarial Doughnut Lesions with Bone Fragility:

40
Bone, Kidney

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. 56 6
30779713 2019
2
Calvarial doughnut lesions and osteoporosis: a new three-generation family and review. 56 6
19839042 2009
3
Calvarial "doughnut lesions": clinical spectrum of the syndrome, report on a case, and review of the literature. 56
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. 56
8958616 1996
5
Calvarial doughnut lesions with osteoporosis, multiple fractures, dentinogenesis imperfecta and tumorous changes in the jaws. (Report of a case). 56
6517811 1984
6
Familial "doughnut" lesions of the skull. A benign, hereditary dysplasia. 56
1265267 1976

Variations for Calvarial Doughnut Lesions with Bone Fragility

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

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SGMS2 NM_152621.5(SGMS2):c.148C>T (p.Arg50Ter)SNV Pathogenic 635285 rs1560667389 4:108816857-108816857 4:107895701-107895701
2 SGMS2 NM_152621.5(SGMS2):c.185T>G (p.Ile62Ser)SNV Pathogenic 635286 rs1560667512 4:108816894-108816894 4:107895738-107895738
3 SGMS2 NM_152621.5(SGMS2):c.191T>G (p.Met64Arg)SNV Pathogenic 635287 rs1560667521 4:108816900-108816900 4:107895744-107895744

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

GO Terms for Calvarial Doughnut Lesions with Bone Fragility

Sources for Calvarial Doughnut Lesions with Bone Fragility

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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