MCID: CLV004
MIFTS: 28

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 72
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 recessive inheritance


Classifications:



External Ids:

OMIM 57 302030
ICD10 via Orphanet 34 M85.2
Orphanet 59 ORPHA391327
MedGen 42 C1863351
UMLS 72 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

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



Diseases related to Calvarial Hyperostosis

Symptoms & Phenotypes for Calvarial Hyperostosis

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

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

Drugs & Therapeutics for Calvarial Hyperostosis

Search Clinical Trials , NIH Clinical Center for Calvarial Hyperostosis

Genetic Tests for Calvarial Hyperostosis

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 22)
# Title Authors PMID Year
1
Localization of the gene for X-linked calvarial hyperostosis to chromosome Xq27.3-Xqter. 38 8
24145306 2014
2
Calvarial hyperostosis: a benign X-linked recessive disorder. 38 8
3512133 1986
3
Giant Bilateral Calvarial Hyperostosis Secondary to Small Unilateral Frontal Meningioma. 38
30271067 2018
4
Rescue of Premature Coronal Suture Fusion with TGF-β2 Neutralizing Antibody in Rabbits with Delayed-Onset Synostosis. 38
27505182 2018
5
Images in Neuroscience: Calvarial hyperostosis associated with multiple intracranial tumours. 38
29428264 2018
6
Primary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly. 38
28469926 2017
7
Dural calcification and calvarial hyperostosis: a rare cause of obstructive hydrocephalus in 'malignant' osteopetrosis. 38
26338250 2015
8
What is your diagnosis? Idiopathic calvarial hyperostosis. 38
25970214 2015
9
Rare giant bilateral calvarial hyperostosis across the superior sagittal sinus secondary to brain meningioma: A case report. 38
24959261 2014
10
Calvarial hyperostosis presenting as unilateral exophthalmos in a female English Springer Spaniel. 38
22192474 2012
11
Idiopathic canine juvenile cranial hyperostosis in a Pit Bull Terrier. 38
21660851 2011
12
Extra-axial Hodgkin's lymphoma with bony hyperostosis mimicking meningioma. 38
21414788 2011
13
Osteopetrosis with Chiari I malformation: presentation and surgical management. 38
21456907 2011
14
Autosomal recessive osteopetrosis as an unusual cause of hydrocephalus, extensive calcification of tentorium cerebelli, and calvarial hyperostosis. 38
20367351 2010
15
Computed tomographic analysis of calvarial hyperostosis in captive lions. 38
20166390 2010
16
Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. 38
19268275 2009
17
A Japanese patient with a mild Lenz-Majewski syndrome. 38
17593321 2007
18
What is your diagnosis? Idiopathic calvarial hyperostosis. 38
16842039 2006
19
Giant calvarial hyperostosis with biparasagittal en plaque meningioma. 38
16804274 2006
20
Calvarial hyperostosis syndrome in two bullmastiffs. 38
16429988 2006
21
Multiple, juxtasutural, cranial hyperostoses and cardiac tumor: a new hamartomatous syndrome? 38
9217216 1997
22
Craniosynostosis update 1987. 38
3144990 1988

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 COX4I2 COX4I1
2 10.56 COX4I2 COX4I1

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 COX4I2 COX4I1
2 mitochondrial membrane GO:0031966 8.96 COX4I2 COX4I1
3 mitochondrial respiratory chain complex IV GO:0005751 8.62 COX4I2 COX4I1

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 COX4I2 COX4I1
2 electron transport chain GO:0022900 9.16 COX4I2 COX4I1
3 generation of precursor metabolites and energy GO:0006091 8.96 COX4I2 COX4I1
4 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.62 COX4I2 COX4I1

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 COX4I2 COX4I1

Sources for Calvarial Hyperostosis

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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