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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

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: ⁵⁹

Rare otorhinolaryngological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

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

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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

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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:

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

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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 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

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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

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Anatomical Context for Hyperostosis Cranialis Interna

MalaCards organs/tissues related to Hyperostosis Cranialis Interna:

⁴¹

Bone, Tongue, Testes

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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 )	Hendrickx G....Van Hul W.	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 )	Borra V.M....Van Hul W.	2013
4	Neurophysiologic, audiometric and vestibular function tests in patients with hyperostosis cranialis interna. ( 23622937 )	Waterval J.J....Manni J.J.	2013
5	Imaging features and progression of hyperostosis cranialis interna. ( 22194361 )	Waterval J.J....Manni J.J.	2012
6	Cerebral vasospasm after auditory brainstem implantation in a patient with hyperostosis cranialis interna. ( 21665359 )	Waterval J.J....Manni J.J.	2011
7	Bone metabolic activity in hyperostosis cranialis interna measured with 18F-fluoride PET. ( 21079950 )	Waterval J.J....Manni J.J.	2011
8	Phenotypic manifestations and management of hyperostosis cranialis interna, a hereditary bone dysplasia affecting the calvaria and the skull base. ( 20140965 )	Waterval J.J....Manni J.J.	2010
9	Facial nerve decompression via middle fossa approach for hyperostosis cranialis interna: a feasible therapeutic approach. ( 19371457 )	Waterval J.J....Manni J.J.	2009
10	Eighth cranial nerve dysfunction in hyperostosis cranialis interna. ( 1575042 )	Manni J.J....Kuijpers W.	1992
11	Hyperostosis cranialis interna. A new hereditary syndrome with cranial-nerve entrapment. ( 2300107 )	Manni J.J....Verhagen W.I.	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 )	Pedersen J.	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	PubmedIds
1	SLC39A14	Solute Carrier Family 39 Member 14	Protein Coding	950	Molecular basis known ⁵⁷ Pathogenic ⁶ Unconfirmed association ⁵⁷	2300107 29621230
2	BMP1	Bone Morphogenetic Protein 1	Protein Coding	17.82	GeneCards inferred via : Publications (show sections)
3	LOXL2	Lysyl Oxidase Like 2	Protein Coding	17.82	GeneCards inferred via : Publications (show sections)
4	ADAM28	ADAM Metallopeptidase Domain 28	Protein Coding	7.82	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	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

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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 ⁶⁶ Show member pathways BMP Signalling Pathway ¹ Canonical and Non-Canonical TGF-B signaling ¹ Loss of Function of SMAD4 in Cancer ⁶⁶ Loss of Function of TGFBR1 in Cancer ⁶⁶ Loss of Function of TGFBR2 in Cancer ⁶⁶ SMAD2/3 MH2 Domain Mutants in Cancer ⁶⁶ SMAD2/3 Phosphorylation Motif Mutants in Cancer ⁶⁶ SMAD4 MH2 Domain Mutants in Cancer ⁶⁶ TGFBR1 KD Mutants in Cancer ⁶⁶ TGFBR1 LBD Mutants in Cancer ⁶⁶ TGFBR2 Kinase Domain Mutants in Cancer ⁶⁶ TGFBR2 MSI Frameshift Mutants in Cancer ⁶⁶	10.51	BMP1 LOXL2

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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	ADAM28 BMP1
2	metalloendopeptidase activity	GO:0004222	8.62	ADAM28 BMP1

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Sources for Hyperostosis Cranialis Interna

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⁷⁶ Wikipedia