CDL
MCID: CLV014
MIFTS: 23

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 57
Doughnut Lesions of Skull, Familial 57 6
Calvarial Doughnut Lesions with Bone Fragility with or Without Spondylometaphyseal Dysplasia 57
Calvarial Doughnut Lesions-Bone Fragility Syndrome 59
Familial Doughnut Lesions of Skull 59
Cdl 57

Characteristics:

Orphanet epidemiological data:

59
calvarial doughnut lesions-bone fragility syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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:

32
calvarial doughnut lesions with bone fragility:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 126550
ICD10 via Orphanet 34 M85.8
UMLS via Orphanet 73 C1852022
Orphanet 59 ORPHA85192
MedGen 42 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)

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 related phenotypes are carious teeth and recurrent fractures

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 dental caries 10.1
11 acute pancreatitis 10.1
12 pancreatitis 10.1
13 chronic kidney disease 10.1
14 microcephaly 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:

32
# Description HPO Frequency HPO Source Accession
1 carious teeth 32 HP:0000670
2 recurrent fractures 32 HP:0002757
3 elevated alkaline phosphatase 32 HP:0003155

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8 71
30779713 2019
2
Calvarial doughnut lesions and osteoporosis: a new three-generation family and review. 8 71
19839042 2009
3
Calvarial "doughnut lesions": clinical spectrum of the syndrome, report on a case, and review of the literature. 8
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. 8
8958616 1996
5
Calvarial doughnut lesions with osteoporosis, multiple fractures, dentinogenesis imperfecta and tumorous changes in the jaws. (Report of a case). 8
6517811 1984
6
Familial "doughnut" lesions of the skull. A benign, hereditary dysplasia. 8
1265267 1976

Variations for Calvarial Doughnut Lesions with Bone Fragility

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SGMS2 NM_152621.5(SGMS2): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic 4:108816857-108816857 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

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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