MCID: CLV004
MIFTS: 31

Calvarial Hyperostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Calvarial Hyperostosis

MalaCards integrated aliases for Calvarial Hyperostosis:

Name: Calvarial Hyperostosis 57 53 29 73
Isolated Hyperostosis of the Calvarium 53
X-Linked Calvarial Hyperostosis 59

Characteristics:

Orphanet epidemiological data:

59
x-linked calvarial hyperostosis
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
calvarial hyperostosis:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 302030
Orphanet 59 ORPHA391327
ICD10 via Orphanet 34 M85.2
MedGen 42 C1863351
SNOMED-CT via HPO 69 263934009
UMLS 73 C1863351

Summaries for Calvarial Hyperostosis

OMIM : 57 Calvarial hyperostosis is a benign X-linked disorder that affects only the skull. Symptoms are prominent frontoparietal bones, flat nasal root, short upturned nose, high forehead with ridging of the metopic and sagittal sutures, and lateral frontal prominences. Radiographs of the skull show increased bone thickness at the sagittal suture line and prominent lateral frontal horns. Increased intracranial pressure and cranial nerve entrapment do not occur (summary by Borra et al., 2014). (302030)

MalaCards based summary : Calvarial Hyperostosis, also known as isolated hyperostosis of the calvarium, is related to exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis and weismann-netter syndrome. An important gene associated with Calvarial Hyperostosis is COX4I2 (Cytochrome C Oxidase Subunit 4I2), and among its related pathways/superpathways are AMPK Enzyme Complex Pathway and Cardiac muscle contraction. Affiliated tissues include bone and brain, and related phenotypes are depressed nasal bridge and abnormality of metabolism/homeostasis

Related Diseases for Calvarial Hyperostosis

Diseases related to Calvarial Hyperostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 12.7
2 weismann-netter syndrome 11.3
3 hyperostosis 10.6
4 hydrocephalus 10.2
5 osteopetrosis 10.2
6 meningioma, familial 10.0
7 brain meningioma 10.0
8 exocrine pancreatic insufficiency 10.0
9 spinal meningioma 10.0
10 obstructive hydrocephalus 10.0
11 secretory meningioma 10.0
12 exophthalmos 10.0
13 degos 'en cocarde' erythrokeratoderma 10.0

Graphical network of the top 20 diseases related to Calvarial Hyperostosis:



Diseases related to Calvarial Hyperostosis

Symptoms & Phenotypes for Calvarial Hyperostosis

Symptoms via clinical synopsis from OMIM:

57
Skeletal Skull:
calvarial hyperostosis
prominent lateral frontal horns
increased bone thickness at the sagittal suture line

Head And Neck Face:
high forehead with ridging of metopic and sagittal sutures
lateral frontal prominences

Head And Neck Nose:
short, upturned nose
flat nasal root


Clinical features from OMIM:

302030

Human phenotypes related to Calvarial Hyperostosis:

32
# Description HPO Frequency HPO Source Accession
1 depressed nasal bridge 32 HP:0005280
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 high forehead 32 HP:0000348
4 calvarial hyperostosis 32 HP:0004490

Drugs & Therapeutics for Calvarial Hyperostosis

Search Clinical Trials , NIH Clinical Center for Calvarial Hyperostosis

Genetic Tests for Calvarial Hyperostosis

Genetic tests related to Calvarial Hyperostosis:

# Genetic test Affiliating Genes
1 Calvarial Hyperostosis 29

Anatomical Context for Calvarial Hyperostosis

MalaCards organs/tissues related to Calvarial Hyperostosis:

41
Bone, Brain

Publications for Calvarial Hyperostosis

Articles related to Calvarial Hyperostosis:

(show all 14)
# Title Authors Year
1
Images in Neuroscience: Calvarial hyperostosis associated with multiple intracranial tumours. ( 29428264 )
2018
2
Giant Bilateral Calvarial Hyperostosis Secondary to Small Unilateral Frontal Meningioma. ( 30271067 )
2018
3
Dural calcification and calvarial hyperostosis: a rare cause of obstructive hydrocephalus in 'malignant' osteopetrosis. ( 26338250 )
2015
4
What is your diagnosis? Idiopathic calvarial hyperostosis. ( 25970214 )
2015
5
Rare giant bilateral calvarial hyperostosis across the superior sagittal sinus secondary to brain meningioma: A case report. ( 24959261 )
2014
6
Localization of the gene for X-linked calvarial hyperostosis to chromosome Xq27.3-Xqter. ( 24145306 )
2014
7
Calvarial hyperostosis presenting as unilateral exophthalmos in a female English Springer Spaniel. ( 22192474 )
2012
8
Computed tomographic analysis of calvarial hyperostosis in captive lions. ( 20166390 )
2010
9
Autosomal recessive osteopetrosis as an unusual cause of hydrocephalus, extensive calcification of tentorium cerebelli, and calvarial hyperostosis. ( 20367351 )
2010
10
Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. ( 19268275 )
2009
11
Giant calvarial hyperostosis with biparasagittal en plaque meningioma. ( 16804274 )
2006
12
What is your diagnosis? Idiopathic calvarial hyperostosis. ( 16842039 )
2006
13
Calvarial hyperostosis syndrome in two bullmastiffs. ( 16429988 )
2006
14
Calvarial hyperostosis: a benign X-linked recessive disorder. ( 3512133 )
1986

Variations for Calvarial Hyperostosis

Expression for Calvarial Hyperostosis

Search GEO for disease gene expression data for Calvarial Hyperostosis.

Pathways for Calvarial Hyperostosis

Pathways related to Calvarial Hyperostosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.19 COX4I1 COX4I2
2 10.52 COX4I1 COX4I2

GO Terms for Calvarial Hyperostosis

Cellular components related to Calvarial Hyperostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.16 COX4I1 COX4I2
2 mitochondrial membrane GO:0031966 8.96 COX4I1 COX4I2
3 mitochondrial respiratory chain complex IV GO:0005751 8.62 COX4I1 COX4I2

Biological processes related to Calvarial Hyperostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.26 COX4I1 COX4I2
2 electron transport chain GO:0022900 9.16 COX4I1 COX4I2
3 generation of precursor metabolites and energy GO:0006091 8.96 COX4I1 COX4I2
4 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.62 COX4I1 COX4I2

Molecular functions related to Calvarial Hyperostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytochrome-c oxidase activity GO:0004129 8.62 COX4I1 COX4I2

Sources for Calvarial Hyperostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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