HCIN
MCID: HYP674
MIFTS: 31

Hyperostosis Cranialis Interna (HCIN)

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

Aliases & Classifications for Hyperostosis Cranialis Interna

MalaCards integrated aliases for Hyperostosis Cranialis Interna:

Name: Hyperostosis Cranialis Interna 58 60 76 6 74
Hcin 58 76
Hyperostosis Cranalis Interna 58

Characteristics:

Orphanet epidemiological data:

60
hyperostosis cranialis interna
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

OMIM:

58
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:

33
hyperostosis cranialis interna:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 144755
MeSH 45 D015576
ICD10 via Orphanet 35 M85.2
UMLS via Orphanet 75 C1840404
Orphanet 60 ORPHA443098
MedGen 43 C1840404
UMLS 74 C1840404

Summaries for Hyperostosis Cranialis Interna

UniProtKB/Swiss-Prot : 76 Hyperostosis cranialis interna: An autosomal dominant 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, its first symptoms often presenting during the second decade of life.

MalaCards based summary : Hyperostosis Cranialis Interna, also known as hcin, is related to hyperostosis and diabetes mellitus. An important gene associated with Hyperostosis Cranialis Interna is SLC39A14 (Solute Carrier Family 39 Member 14). Affiliated tissues include bone, tongue and testes, and related phenotypes are proptosis and ocular pain

OMIM : 58 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)

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 10.9
2 diabetes mellitus 10.3

Symptoms & Phenotypes for Hyperostosis Cranialis Interna

Human phenotypes related to Hyperostosis Cranialis Interna:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 proptosis 33 very rare (1%) HP:0000520
2 ocular pain 33 very rare (1%) HP:0200026
3 arnold-chiari type i malformation 33 very rare (1%) HP:0007099
4 epiphora 33 very rare (1%) HP:0009926
5 mastoiditis 33 very rare (1%) HP:0000265
6 facial palsy 33 HP:0010628
7 sensorineural hearing impairment 33 HP:0000407
8 optic atrophy 33 HP:0000648
9 reduced visual acuity 33 HP:0007663
10 tinnitus 33 HP:0000360
11 calvarial hyperostosis 33 HP:0004490
12 vestibular dysfunction 33 HP:0001751
13 osteosclerosis of the base of the skull 33 HP:0005746
14 hyperostosis cranialis interna 33 HP:0005890

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
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

UniProtKB/Swiss-Prot genetic disease variations for Hyperostosis Cranialis Interna:

76
# Symbol AA change Variation ID SNP ID
1 SLC39A14 p.Leu441Arg VAR_080794

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 rs1554520924 GRCh37 Chromosome 8, 22275338: 22275338
2 SLC39A14 NM_001351656.1(SLC39A14): c.1322T> G (p.Leu441Arg) single nucleotide variant Pathogenic rs1554520924 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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