Calvarial Doughnut Lesions with Bone Fragility disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the musculoskeletal system and connective tissue

Disorders of bone density and structure

Other disorders of bone density and structure

Other specified disorders of bone density and structure

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 126550

ICD10 via Orphanet ³⁴ M85.8

UMLS via Orphanet ⁷³ C1852022

Orphanet ⁵⁹ ORPHA85192

MedGen ⁴² C1852022

Sources

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

Sources

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
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:

Sources

Symptoms & Phenotypes for Calvarial Doughnut Lesions with Bone Fragility

Human phenotypes related to Calvarial Doughnut Lesions with Bone Fragility:

³²

#	Description	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

Sources

Drugs & Therapeutics for Calvarial Doughnut Lesions with Bone Fragility

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

Sources

Genetic Tests for Calvarial Doughnut Lesions with Bone Fragility

Sources

Anatomical Context for Calvarial Doughnut Lesions with Bone Fragility

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

⁴¹

Bone

Sources

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	Pekkinen M...Makitie O	30779713	2019
2	Calvarial doughnut lesions and osteoporosis: a new three-generation family and review. ⁸ ⁷¹	Jaakkola E...Makitie O	19839042	2009
3	Calvarial "doughnut lesions": clinical spectrum of the syndrome, report on a case, and review of the literature. ⁸	Baumgartner D...Steinmann B	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	Nishimura G...Yamato M	8958616	1996
5	Calvarial doughnut lesions with osteoporosis, multiple fractures, dentinogenesis imperfecta and tumorous changes in the jaws. (Report of a case). ⁸	Colavita N...Ricci R	6517811	1984
6	Familial "doughnut" lesions of the skull. A benign, hereditary dysplasia. ⁸	Bartlett JE...Kishore PR	1265267	1976

Sources

Genes for Calvarial Doughnut Lesions with Bone Fragility

Genes related to Calvarial Doughnut Lesions with Bone Fragility (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SGMS2	Sphingomyelin Synthase 2	Protein Coding	908.63	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	19839042 30779713
2	LOC101929595	Uncharacterized LOC101929595	RNA Gene	8.63	GeneCards inferred via : Variants (show sections)

Sources

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

Sources

Expression for Calvarial Doughnut Lesions with Bone Fragility

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

Sources

Pathways for Calvarial Doughnut Lesions with Bone Fragility

Sources

GO Terms for Calvarial Doughnut Lesions with Bone Fragility

Sources

Sources for Calvarial Doughnut Lesions with Bone Fragility

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Calvarial Doughnut Lesions with Bone Fragility (CDL)

Aliases & Classifications for Calvarial Doughnut Lesions with Bone Fragility

MalaCards integrated aliases for Calvarial Doughnut Lesions with Bone Fragility:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Calvarial Doughnut Lesions with Bone Fragility

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Publications for Calvarial Doughnut Lesions with Bone Fragility

Articles related to Calvarial Doughnut Lesions with Bone Fragility:

Genes for Calvarial Doughnut Lesions with Bone Fragility

Genes related to Calvarial Doughnut Lesions with Bone Fragility (1 elite genes):

Variations for Calvarial Doughnut Lesions with Bone Fragility

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

Expression 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