spondylometaphyseal dysplasia with cone-rod dystrophy

Summary
Synonym
  • SMD-CRD
  • SMDCRD
  • spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Definition
A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29.
Super Class
autosomal recessive disease spondylometaphyseal dysplasia
External Links
Disease Ontology
DOID:0112300
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
The Human Phenotype Ontology
Displaying entries 31 - 40 of 59 in total
HPO ID HPO Term
HP:0009803 Short phalanx of finger
HP:0000887 Cupped ribs
HP:0005054 Metaphyseal spurs
HP:0000568 Microphthalmia
HP:0003026 Short long bone
HP:0007688 Undetectable light- and dark-adapted electroretinogram
HP:0001132 Lens subluxation
HP:0000007 Autosomal recessive inheritance
HP:0000403 Recurrent otitis media
HP:0000529 Progressive visual loss
Displaying 1 entry
Gene ID Gene Symbol Description
5130 PCYT1A phosphate cytidylyltransferase 1A, choline

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024