Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised 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.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(21.2%)		 28272537
(5392360)
 Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.
Testa F, Filippelli M, Brunetti-Pierri R, Di Fruscio G, Di Iorio V, Pizzo M, Torella A, Barillari MR, Nigro V, Brunetti-Pierri N, Simonelli F, Banfi S.
Eur J Hum Genet. 2017;25(5):651-655.
Skeletal dysplasia
rs587777189
Child Choline-Phosphate Cytidylyltransferase Females Homo sapiens Male Mutation Phenotype Retinal Dystrophies
        

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0000548 Cone/cone-rod dystrophy Very frequent (99-80%)
HP:0000926 Platyspondyly Very frequent (99-80%)
HP:0001510 Growth delay Very frequent (99-80%)
HP:0002657 Spondylometaphyseal dysplasia Very frequent (99-80%)
HP:0003021 Metaphyseal cupping Very frequent (99-80%)
HP:0003184 Decreased hip abduction Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0006487 Bowing of the long bones Very frequent (99-80%)
HP:0007730 Iris hypopigmentation Very frequent (99-80%)
HP:0008905 Rhizomelia Very frequent (99-80%)
HP:0000483 Astigmatism Frequent (79-30%)
HP:0000545 Myopia Frequent (79-30%)
HP:0000551 Color vision defect Frequent (79-30%)
HP:0000572 Visual loss Frequent (79-30%)
HP:0000613 Photophobia Frequent (79-30%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0000662 Nyctalopia Frequent (79-30%)
HP:0000772 Abnormality of the ribs Frequent (79-30%)
HP:0001129 Large central visual field defect Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0003307 Hyperlordosis Frequent (79-30%)
HP:0007994 Peripheral visual field loss Frequent (79-30%)
HP:0008499 High hypermetropia Frequent (79-30%)
HP:0002996 Limited elbow movement Occasional (29-5%)
HP:0004279 Short palm Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0009125 Lipodystrophy 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
PCYT1A phosphate cytidylyltransferase 1, choline, alpha 5130