|
HCIN
MCID: HYP674
MIFTS: 30
|
Hyperostosis Cranialis Interna (HCIN)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Hyperostosis Cranialis Interna:
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:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Ear diseases Bone diseases Neuronal diseases
ICD10:
34
Orphanet: 59
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
|
|
UniProtKB/Swiss-Prot
:
75
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), 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 sensorineural hearing impairment 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) |
Diseases related to Hyperostosis Cranialis Interna via text searches within MalaCards or GeneCards Suite gene sharing:
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:144755Human phenotypes related to Hyperostosis Cranialis Interna:32 (show all 14)
|
|
|
MalaCards organs/tissues related to Hyperostosis Cranialis Interna:41
Bone,
Tongue,
Testes
|
Articles related to Hyperostosis Cranialis Interna:(show all 12)
|
Genes related to Hyperostosis Cranialis Interna (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
UniProtKB/Swiss-Prot genetic disease variations for Hyperostosis Cranialis Interna:75
ClinVar genetic disease variations for Hyperostosis Cranialis Interna:6
|
|
Search
GEO
for disease gene expression data for Hyperostosis Cranialis Interna.
|
Molecular functions related to Hyperostosis Cranialis Interna according to GeneCards Suite gene sharing:
|
|