eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pyle disease |
| Comorbidity | C0035334|cone-rod dystrophy |
| Sentences | 6 |
| PubMedID- 20141353 | Purpose: to report on the clinical ophthalmologic and radiographic findings in spondylometaphyseal dysplasia with cone-rod dystrophy. |
| PubMedID- 25178427 | Boucher-neuhauser/gordon holmes syndrome (pnpla6), pharc syndrome (abhd12), hereditary spastic paraplegia type 28, 54 and 56 (hsp28, ddhd1; hsp54, ddhd2; hsp56, cyp2u1), lenz majewski syndrome (ptdss1), spondylometaphyseal dysplasia with cone-rod dystrophy (pcyt1a), atypical haemolytic-uremic syndrome due to dgke deficiency (dgke). |
| PubMedID- 21412974 | We report on a boy of a unique form of spondylometaphyseal dysplasia associated with cone-rod dystrophy. |
| PubMedID- 24387990 | Mutations in pcyt1a, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. |
| PubMedID- 24387991 | Mutations in pcyt1a cause spondylometaphyseal dysplasia with cone-rod dystrophy. |
| PubMedID- 24476460 | Novel mutations in pcyt1a are responsible for spondylometaphyseal dysplasia with cone-rod dystrophy. |
Page: 1