KEGG   DISEASE: Eiken dysplasia
Entry
H00495                      Disease                                
Name
Eiken dysplasia
Description
Eiken dysplasia is an extremely rare form of multiple epiphyseal dysplasia. It is caused by a homozygous nonsense mutation in the PTHR1 gene.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00495  Eiken dysplasia
Pathway
hsa04928  Parathyroid hormone synthesis, secretion and action
hsa04961  Endocrine and other factor-regulated calcium reabsorption
hsa04080  Neuroactive ligand-receptor interaction
Gene
PTHR1 [HSA:5745] [KO:K04585]
Other DBs
ICD-11: LD24.6
MeSH: C564010
OMIM: 600002
Reference
PMID:15525660
  Authors
Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C
  Title
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.
  Journal
Hum Mol Genet 14:1-5 (2005)
DOI:10.1093/hmg/ddi001

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