Hyperostosis Cranialis Interna disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hyperostosis Cranialis Interna

MalaCards integrated aliases for Hyperostosis Cranialis Interna:

Name: Hyperostosis Cranialis Interna ⁵⁷ ⁵⁸ ⁷³ ²⁹ ⁶ ³⁹ ⁷¹

Hcin ⁵⁷ ⁷³

Hyperostosis Cranalis Interna ⁵⁷

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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:

³¹

hyperostosis cranialis interna:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Ear diseases Bone diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the musculoskeletal system and connective tissue

Disorders of bone density and structure

Other disorders of bone density and structure

Hyperostosis of skull

Orphanet: ⁵⁸

Rare otorhinolaryngological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 144755

MeSH ⁴⁴ D015576

ICD10 via Orphanet ³³ M85.2

UMLS via Orphanet ⁷² C1840404

Orphanet ⁵⁸ ORPHA443098

MedGen ⁴¹ C1840404

SNOMED-CT via HPO ⁶⁸ 112222000 13164000 162349004 more

UMLS ⁷¹ C1840404

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Summaries for Hyperostosis Cranialis Interna

UniProtKB/Swiss-Prot : ⁷³ 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 overgrowth syndrome. 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 hypertension

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) (Updated 05-Mar-2021)

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Related Diseases for Hyperostosis Cranialis Interna

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

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	hyperostosis	30.3	SLC39A14 BMP1
2	overgrowth syndrome	10.5
3	primary bone dysplasia with increased bone density	10.4
4	bone disease	10.3
5	craniometaphyseal dysplasia, autosomal dominant	10.2
6	camurati-engelmann disease	10.2
7	van buchem disease	10.2
8	branchiootic syndrome 1	10.2
9	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.2
10	sclerosteosis	10.2
11	sensorineural hearing loss	10.2
12	facial paralysis	10.2

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

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Symptoms & Phenotypes for Hyperostosis Cranialis Interna

Human phenotypes related to Hyperostosis Cranialis Interna:

³¹ (show all 16)

#	Description	HPO Frequency	HPO Source Accession
1	proptosis ³¹	very rare (1%)	HP:0000520
2	ocular hypertension ³¹	very rare (1%)	HP:0007906
3	arnold-chiari type i malformation ³¹	very rare (1%)	HP:0007099
4	epiphora ³¹	very rare (1%)	HP:0009926
5	ocular pain ³¹	very rare (1%)	HP:0200026
6	mastoiditis ³¹	very rare (1%)	HP:0000265
7	facial palsy ³¹		HP:0010628
8	sensorineural hearing impairment ³¹		HP:0000407
9	optic atrophy ³¹		HP:0000648
10	reduced visual acuity ³¹		HP:0007663
11	hyposmia ³¹		HP:0004409
12	calvarial hyperostosis ³¹		HP:0004490
13	tinnitus ³¹		HP:0000360
14	vestibular dysfunction ³¹		HP:0001751
15	osteosclerosis of the base of the skull ³¹		HP:0005746
16	hyperostosis cranialis interna ³¹		HP:0005890

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Head And Neck Eyes:
reduced visual acuity
optic nerve atrophy
central scotomas
diffuse loss of peripheral visual acuity
epiphora (rare)
more

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

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)

Head And Neck Ears:
tinnitus
vestibular dysfunction
sensorineural hearing loss

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

Clinical features from OMIM®:

144755 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Hyperostosis Cranialis Interna

Search Clinical Trials , NIH Clinical Center for Hyperostosis Cranialis Interna

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Genetic Tests for Hyperostosis Cranialis Interna

Genetic tests related to Hyperostosis Cranialis Interna:

#	Genetic test	Affiliating Genes
1	Hyperostosis Cranialis Interna ²⁹	SLC39A14

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Anatomical Context for Hyperostosis Cranialis Interna

MalaCards organs/tissues related to Hyperostosis Cranialis Interna:

⁴⁰

Bone, Tongue, Cervix

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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. ⁶¹ ⁵⁷ ⁶	Hendrickx G...Van Hul W	29621230	2018
2	Hyperostosis cranialis interna. A new hereditary syndrome with cranial-nerve entrapment. ⁵⁷ ⁶ ⁶¹	Manni JJ...Verhagen WI	2300107	1990
3	Localization of the gene for hyperostosis cranialis interna to chromosome 8p21 with analysis of three candidate genes. ⁵⁷ ⁶¹	Borra VM...Van Hul W	23640157	2013
4	Phenotypic manifestations and management of hyperostosis cranialis interna, a hereditary bone dysplasia affecting the calvaria and the skull base. ⁶¹ ⁵⁷	Waterval JJ...Manni JJ	20140965	2010
5	Preparation of a calcium carbonate-based bone substitute with cinnamaldehyde crosslinking agent with potential anti-inflammatory properties. ⁶¹	Dewi AH...Jansen J	28028917	2017
6	Neurophysiologic, audiometric and vestibular function tests in patients with hyperostosis cranialis interna. ⁶¹	Waterval JJ...Manni JJ	23622937	2013
7	Genetic basis of hyperostosis cranialis interna. ⁶¹		24422132	2013
8	Imaging features and progression of hyperostosis cranialis interna. ⁶¹	Waterval JJ...Manni JJ	22194361	2012
9	Cerebral vasospasm after auditory brainstem implantation in a patient with hyperostosis cranialis interna. ⁶¹	Waterval JJ...Manni JJ	21665359	2011
10	Bone metabolic activity in hyperostosis cranialis interna measured with 18F-fluoride PET. ⁶¹	Waterval JJ...Manni JJ	21079950	2011
11	Facial nerve decompression via middle fossa approach for hyperostosis cranialis interna: a feasible therapeutic approach. ⁶¹	Waterval JJ...Manni JJ	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. ⁶¹	Cini R...Hursthouse MB	17592742	2007
13	PRb2/p130, p107 and p53 expression in precancerous lesions and squamous cell carcinoma of the uterine cervix. ⁶¹	Cenci M...Vecchione A	16158962	2005
14	Subtyping borderline nuclear changes: is it of value in predicting high-grade cervical intraepithelial neoplasia on histology? ⁶¹	Shanbhag S...Wadehra V	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. ⁶¹	Gill JC...Schwartz B	12032528	2002
16	HPV infection and microsatellite instability in squamous lesions of the uterine cervix. ⁶¹	French D...Vecchione A	11131642	2000
17	Uneven distribution of HPV 16 E6 prototype and variant (L83V) oncoprotein in cervical neoplastic lesions. ⁶¹	Andersson S...Wilander E	10917543	2000
18	Eighth cranial nerve dysfunction in hyperostosis cranialis interna. ⁶¹	Manni JJ...Kuijpers W	1575042	1992
19	[Hyperostosis cranialis interna; a new syndrome with autosomal dominant inheritance]. ⁶¹	Manni JJ...Verhagen WI	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. ⁶¹	PEDERSEN J	18895758	1947

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Genes for Hyperostosis Cranialis Interna

Genes related to Hyperostosis Cranialis Interna (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SLC39A14	Solute Carrier Family 39 Member 14	Protein Coding	1377.18	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Publications Variants (show sections)	2300107 29621230
2	ADAM28	ADAM Metallopeptidase Domain 28	Protein Coding	7.3	GeneCards inferred via : Publications (show sections)
3	BMP1	Bone Morphogenetic Protein 1	Protein Coding	7.3	GeneCards inferred via : Publications (show sections)
4	LOXL2	Lysyl Oxidase Like 2	Protein Coding	7.3	GeneCards inferred via : Publications (show sections)

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Variations for Hyperostosis Cranialis Interna

ClinVar genetic disease variations for Hyperostosis Cranialis Interna:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SLC39A14	NM_001128431.4(SLC39A14):c.1322T>G (p.Leu441Arg)	SNV	Pathogenic	523143	rs1554520924	8:22275338-22275338	8:22417825-22417825

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

⁷³

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

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Expression for Hyperostosis Cranialis Interna

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

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Pathways for Hyperostosis Cranialis Interna

Pathways related to Hyperostosis Cranialis Interna according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Loss of Function of SMAD2/3 in Cancer ⁶⁵ Show member pathways BMP Signalling Pathway ¹ Canonical and Non-Canonical TGF-B signaling ¹ Loss of Function of SMAD4 in Cancer ⁶⁵ Loss of Function of TGFBR1 in Cancer ⁶⁵ Loss of Function of TGFBR2 in Cancer ⁶⁵ SMAD2/3 MH2 Domain Mutants in Cancer ⁶⁵ SMAD2/3 Phosphorylation Motif Mutants in Cancer ⁶⁵ SMAD4 MH2 Domain Mutants in Cancer ⁶⁵ TGFBR1 KD Mutants in Cancer ⁶⁵ TGFBR1 LBD Mutants in Cancer ⁶⁵ TGFBR2 Kinase Domain Mutants in Cancer ⁶⁵ TGFBR2 MSI Frameshift Mutants in Cancer ⁶⁵	10.51	LOXL2 BMP1

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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

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Sources for Hyperostosis Cranialis Interna

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Hyperostosis Cranialis Interna (HCIN)

Aliases & Classifications for Hyperostosis Cranialis Interna

MalaCards integrated aliases for Hyperostosis Cranialis Interna:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Hyperostosis Cranialis Interna

Related Diseases for Hyperostosis Cranialis Interna

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

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

Symptoms & Phenotypes for Hyperostosis Cranialis Interna

Human phenotypes related to Hyperostosis Cranialis Interna:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Hyperostosis Cranialis Interna

Genetic Tests for Hyperostosis Cranialis Interna

Genetic tests related to Hyperostosis Cranialis Interna:

Anatomical Context for Hyperostosis Cranialis Interna

MalaCards organs/tissues related to Hyperostosis Cranialis Interna:

Publications for Hyperostosis Cranialis Interna

Articles related to Hyperostosis Cranialis Interna:

Genes for Hyperostosis Cranialis Interna

Genes related to Hyperostosis Cranialis Interna (1 elite genes):

Variations for Hyperostosis Cranialis Interna

ClinVar genetic disease variations for Hyperostosis Cranialis Interna:

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

Expression for Hyperostosis Cranialis Interna

Pathways for Hyperostosis Cranialis Interna

Pathways related to Hyperostosis Cranialis Interna according to GeneCards Suite gene sharing:

GO Terms for Hyperostosis Cranialis Interna

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

Sources for Hyperostosis Cranialis Interna