MCID: HYP674
MIFTS: 28

Hyperostosis Cranialis Interna

Categories: Genetic diseases, Ear diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hyperostosis Cranialis Interna

MalaCards integrated aliases for Hyperostosis Cranialis Interna:

Name: Hyperostosis Cranialis Interna 57 59 6 73
Hyperostosis Cranalis Interna 57
Hcin 57

Characteristics:

Orphanet epidemiological data:

59
hyperostosis cranialis interna
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 family with 14 affected individuals (last curated may 2018)
onset of symptoms in second decade of life in most patients
facial nerve palsy is most frequent first symptom
intrafamilial clinical variability
symptoms may be precipitated or exacerbated by hormonal events (e.g., pregnancy, oral contraceptive use, ovulation)
early symptom onset is harbinger of severe progression
clinical progression generally ceases in fifth decade of life


HPO:

32
hyperostosis cranialis interna:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 144755
Orphanet 59 ORPHA443098
UMLS via Orphanet 74 C1840404
ICD10 via Orphanet 34 M85.2
MedGen 42 C1840404
SNOMED-CT via HPO 69 263681008 193093009 95666008
UMLS 73 C1840404

Summaries for Hyperostosis Cranialis Interna

OMIM : 57 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). (144755)

MalaCards based summary : Hyperostosis Cranialis Interna, also known as hyperostosis cranalis interna, is related to hyperostosis and diabetes mellitus. An important gene associated with Hyperostosis Cranialis Interna is SLC39A14 (Solute Carrier Family 39 Member 14), and among its related pathways/superpathways is Loss of Function of SMAD2/3 in Cancer. Affiliated tissues include bone, tongue and testes, and related phenotypes are facial palsy and calvarial hyperostosis

Related Diseases for Hyperostosis Cranialis Interna

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

# Related Disease Score Top Affiliating Genes
1 hyperostosis 10.7
2 diabetes mellitus 10.2
3 cerebritis 10.2

Symptoms & Phenotypes for Hyperostosis Cranialis Interna

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
reduced visual acuity
optic nerve atrophy
central scotomas
diffuse loss of peripheral visual acuity
epiphora (rare)
more
Head And Neck Face:
facial paresis or paralysis, recurrent
facial synkinesis (rare)
trigeminal facial pain
reduced sensation in trigeminal distribution

Head And Neck Mouth:
absent sense of taste (unilateral in some patients)
tongue numbness

Neurologic Central Nervous System:
entrapment/dysfunction of cranial nerves (i, ii, v, vii, and viii)
headaches, recurrent
chiari i malformation (rare)
brainstem herniation (rare)

Head And Neck Ears:
tinnitus
vestibular dysfunction
sensorineural hearing loss

Head And Neck Nose:
hyposmia or anosmia (intermittent in some patients)

Skeletal Skull:
hyperostosis of calvaria and skull base
osteosclerosis of calvaria and skull base
mastoiditis (rare)


Clinical features from OMIM:

144755

Human phenotypes related to Hyperostosis Cranialis Interna:

32
# Description HPO Frequency HPO Source Accession
1 facial palsy 32 HP:0010628
2 calvarial hyperostosis 32 HP:0004490
3 osteosclerosis of the base of the skull 32 HP:0005746
4 hyperostosis cranialis interna 32 HP:0005890

Drugs & Therapeutics for Hyperostosis Cranialis Interna

Search Clinical Trials , NIH Clinical Center for Hyperostosis Cranialis Interna

Genetic Tests for Hyperostosis Cranialis Interna

Anatomical Context for Hyperostosis Cranialis Interna

MalaCards organs/tissues related to Hyperostosis Cranialis Interna:

41
Bone, Tongue, Testes

Publications for Hyperostosis Cranialis Interna

Articles related to Hyperostosis Cranialis Interna:

(show all 12)
# Title Authors Year
1
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis. ( 29621230 )
2018
2
Genetic basis of hyperostosis cranialis interna. ( 24422132 )
2013
3
Localization of the gene for hyperostosis cranialis interna to chromosome 8p21 with analysis of three candidate genes. ( 23640157 )
2013
4
Neurophysiologic, audiometric and vestibular function tests in patients with hyperostosis cranialis interna. ( 23622937 )
2013
5
Imaging features and progression of hyperostosis cranialis interna. ( 22194361 )
2012
6
Cerebral vasospasm after auditory brainstem implantation in a patient with hyperostosis cranialis interna. ( 21665359 )
2011
7
Bone metabolic activity in hyperostosis cranialis interna measured with 18F-fluoride PET. ( 21079950 )
2011
8
Phenotypic manifestations and management of hyperostosis cranialis interna, a hereditary bone dysplasia affecting the calvaria and the skull base. ( 20140965 )
2010
9
Facial nerve decompression via middle fossa approach for hyperostosis cranialis interna: a feasible therapeutic approach. ( 19371457 )
2009
10
Eighth cranial nerve dysfunction in hyperostosis cranialis interna. ( 1575042 )
1992
11
Hyperostosis cranialis interna. A new hereditary syndrome with cranial-nerve entrapment. ( 2300107 )
1990
12
Hyperostosis cranialis interna; the Morgagni and Stewart-Morel syndromes; examination of females suffering from diabetes mellitus and other endocrine disorders as well as female epileptics. ( 18895758 )
1947

Variations for Hyperostosis Cranialis Interna

ClinVar genetic disease variations for Hyperostosis Cranialis Interna:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC39A14 NM_001351656.1(SLC39A14): c.1322T> G (p.Leu441Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 22275338: 22275338
2 SLC39A14 NM_001351656.1(SLC39A14): c.1322T> G (p.Leu441Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 22417825: 22417825

Expression for Hyperostosis Cranialis Interna

Search GEO for disease gene expression data for Hyperostosis Cranialis Interna.

Pathways for Hyperostosis Cranialis Interna

GO Terms for Hyperostosis Cranialis Interna

Molecular functions related to Hyperostosis Cranialis Interna according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metallopeptidase activity GO:0008237 8.96 ADAM28 BMP1
2 metalloendopeptidase activity GO:0004222 8.62 ADAM28 BMP1

Sources for Hyperostosis Cranialis Interna

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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