Details of Disease

General Information of Disease (ID: DISXRSJE)

Disease Name Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Synonyms spondylometaphyseal dysplasia with cone-rod dystrophy; SMDCRD; SmD-CRD; spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Definition
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.
Disease Hierarchy
DISDTAJK: Spondylometaphyseal dysplasia
DISXRSJE: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Disease Identifiers
MONDO ID
MONDO_0012160
MESH ID
C563825
UMLS CUI
C1837073
OMIM ID
608940
MedGen ID
324684
Orphanet ID
85167

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
PCYT1A DEQYXD4 Limited Biomarker [1]
PCYT1A DEQYXD4 Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PCYT1A OTMH0YLN Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.Proc Natl Acad Sci U S A. 2014 Jun 17;111(24):8901-6. doi: 10.1073/pnas.1408523111. Epub 2014 Jun 2.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.