Hyperostosis Cranialis Interna

Description

Hyperostosis cranialis interna is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval et al., 2010).

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperostosis Cranialis Interna

  • Hearing impairment
  • Sensorineural hearing impairment
  • Optic atrophy
  • Reduced visual acuity
  • Proptosis
  • Facial palsy
  • Overgrowth
  • Increased bone mineral density
  • Tinnitus
  • Epiphora

And another 8 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hyperostosis Cranialis Interna Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC20A2, SLC6A3, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TARDBP, TWNK, TH, GIGYF2, UCHL1, XPR1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, CHCHD10 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
Dystonia.

By Asper Biogene Asper Biogene LLC (Estonia).

SGCE, SLC25A1, SLC2A1, SLC6A3, SPR, TAF1, TBCE, TH, TIMM8A, ACTB, CACNA1B, ANO3, PANK2, TUBB4A, THAP1, SLC39A14, COL6A3, ADCY5, SLC30A10, KCTD17 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.

By NBIA Testing Center Oregon Health & Science University (United States).

SCP2, SQSTM1, KMT2B, PANK2, TRIM32, VPS13A, MECR, SLC39A14, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
6 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication.

By NBIA Testing Center Oregon Health & Science University (United States).

SCP2, SQSTM1, KMT2B, PANK2, TRIM32, VPS13A, MECR, SLC39A14, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
6 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication.

By NBIA Testing Center Oregon Health & Science University (United States).

SQSTM1, PANK2, TRIM32, VPS13A, SLC39A14, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
7 %
Genes
100 %
SLC39A14.

By Fulgent Genetics Fulgent Genetics (United States).

SLC39A14
Specificity
100 %
Genes
100 %
SLC39A14-Related Early-Onset Dystonia-Parkinsonism: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada).

SLC39A14
Specificity
100 %
Genes
100 %

You can get up to 0 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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