Details of Disease

General Information of Disease (ID: DIS4J3C3)

Disease Name Eiken syndrome
Synonyms bone modeling defect of hands and feet; Eiken skeletal dysplasia; bone modelling defect of hands and feet; Eiken syndrome
Definition
Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.
Disease Hierarchy
DIS5Z8U6: Skeletal dysplasia
DIS4J3C3: Eiken syndrome
Disease Identifiers
MONDO ID
MONDO_0010803
MESH ID
C564010
UMLS CUI
C1838779
OMIM ID
600002
MedGen ID
325097
Orphanet ID
79106
SNOMED CT ID
720863002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PTH1R TTFPD47 Limited Genetic Variation [1]
PTH1R TTFPD47 Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PTH1R OTQF5ZAK Strong Autosomal recessive [2]
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References

1 Report of second case and clinical and molecular characterization of Eiken syndrome.Clin Genet. 2018 Nov;94(5):457-460. doi: 10.1111/cge.13413. Epub 2018 Jul 27.
2 Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum Mol Genet. 2005 Jan 1;14(1):1-5. doi: 10.1093/hmg/ddi001. Epub 2004 Nov 3.