HCIN
MCID: HYP674
MIFTS: 32

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 57 59 74 6 72
Hcin 57 74
Hyperostosis Cranalis Interna 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
MeSH 44 D015576
ICD10 via Orphanet 34 M85.2
UMLS via Orphanet 73 C1840404
Orphanet 59 ORPHA443098
MedGen 42 C1840404
UMLS 72 C1840404

Summaries for Hyperostosis Cranialis Interna

UniProtKB/Swiss-Prot : 74 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 endosteal hyperostosis, autosomal dominant. 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 cervix, and related phenotypes are proptosis and ocular pain

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)

Related Diseases for Hyperostosis Cranialis Interna

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 hyperostosis 10.9
2 endosteal hyperostosis, autosomal dominant 10.7
3 overgrowth syndrome 10.6
4 primary bone dysplasia with increased bone density 10.5
5 bone disease 10.5
6 craniometaphyseal dysplasia, autosomal dominant 10.3
7 camurati-engelmann disease 10.3
8 van buchem disease 10.3
9 branchiootic syndrome 1 10.3
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
11 sclerosteosis 10.3
12 sensorineural hearing loss 10.3
13 facial paralysis 10.3

Graphical network of the top 20 diseases related to Hyperostosis Cranialis Interna:



Diseases related to Hyperostosis Cranialis Interna

Symptoms & Phenotypes for Hyperostosis Cranialis Interna

Human phenotypes related to Hyperostosis Cranialis Interna:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 proptosis 32 very rare (1%) HP:0000520
2 ocular pain 32 very rare (1%) HP:0200026
3 arnold-chiari type i malformation 32 very rare (1%) HP:0007099
4 ocular hypertension 32 very rare (1%) HP:0007906
5 epiphora 32 very rare (1%) HP:0009926
6 mastoiditis 32 very rare (1%) HP:0000265
7 facial palsy 32 HP:0010628
8 sensorineural hearing impairment 32 HP:0000407
9 optic atrophy 32 HP:0000648
10 reduced visual acuity 32 HP:0007663
11 tinnitus 32 HP:0000360
12 calvarial hyperostosis 32 HP:0004490
13 vestibular dysfunction 32 HP:0001751
14 osteosclerosis of the base of the skull 32 HP:0005746
15 hyperostosis cranialis interna 32 HP:0005890

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

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, Cervix, Testes

Publications for Hyperostosis Cranialis Interna

Articles related to Hyperostosis Cranialis Interna:

(show all 20)
# Title Authors PMID Year
1
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis. 38 8 71
29621230 2018
2
Hyperostosis cranialis interna. A new hereditary syndrome with cranial-nerve entrapment. 38 8 71
2300107 1990
3
Localization of the gene for hyperostosis cranialis interna to chromosome 8p21 with analysis of three candidate genes. 38 8
23640157 2013
4
Phenotypic manifestations and management of hyperostosis cranialis interna, a hereditary bone dysplasia affecting the calvaria and the skull base. 38 8
20140965 2010
5
Preparation of a calcium carbonate-based bone substitute with cinnamaldehyde crosslinking agent with potential anti-inflammatory properties. 38
28028917 2017
6
Neurophysiologic, audiometric and vestibular function tests in patients with hyperostosis cranialis interna. 38
23622937 2013
7
Genetic basis of hyperostosis cranialis interna. 38
24422132 2013
8
Imaging features and progression of hyperostosis cranialis interna. 38
22194361 2012
9
Cerebral vasospasm after auditory brainstem implantation in a patient with hyperostosis cranialis interna. 38
21665359 2011
10
Bone metabolic activity in hyperostosis cranialis interna measured with 18F-fluoride PET. 38
21079950 2011
11
Facial nerve decompression via middle fossa approach for hyperostosis cranialis interna: a feasible therapeutic approach. 38
19371457 2009
12
Unusual coordinating behavior by three non-steroidal anti-inflammatory drugs from the oxicam family towards copper(II). Synthesis, X-ray structure for copper(II)-isoxicam, -meloxicam and -cinnoxicam-derivative complexes, and cytotoxic activity for a copper(II)-piroxicam complex. 38
17592742 2007
13
PRb2/p130, p107 and p53 expression in precancerous lesions and squamous cell carcinoma of the uterine cervix. 38
16158962 2005
14
Subtyping borderline nuclear changes: is it of value in predicting high-grade cervical intraepithelial neoplasia on histology? 38
14510887 2003
15
Evaluation of high concentration intranasal and intravenous desmopressin in pediatric patients with mild hemophilia A or mild-to-moderate type 1 von Willebrand disease. 38
12032528 2002
16
HPV infection and microsatellite instability in squamous lesions of the uterine cervix. 38
11131642 2000
17
Uneven distribution of HPV 16 E6 prototype and variant (L83V) oncoprotein in cervical neoplastic lesions. 38
10917543 2000
18
Eighth cranial nerve dysfunction in hyperostosis cranialis interna. 38
1575042 1992
19
[Hyperostosis cranialis interna; a new syndrome with autosomal dominant inheritance]. 38
2215719 1990
20
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. 38
18895758 1947

Variations for Hyperostosis Cranialis Interna

ClinVar genetic disease variations for Hyperostosis Cranialis Interna:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC39A14 NM_001351656.2(SLC39A14): c.1322T> G (p.Leu441Arg) single nucleotide variant Pathogenic rs1554520924 8:22275338-22275338 8:22417825-22417825

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

74
# Symbol AA change Variation ID SNP ID
1 SLC39A14 p.Leu441Arg VAR_080794 rs155452092

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 BMP1 ADAM28
2 metalloendopeptidase activity GO:0004222 8.62 BMP1 ADAM28

Sources for Hyperostosis Cranialis Interna

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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