Retinitis pigmentosa with or without skeletal anomalies

Preferred Label : Retinitis pigmentosa with or without skeletal anomalies;

Symbol : RPSKA;

CISMeF acronym : RPSKA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Metaphyseal chondrodysplasia with retinitis pigmentosa;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CWC27 spliceosome-associated cyclophilin gene (CWC27, 617170.0001);

Prefixed ID : #250410;

Details

Origin ID

250410;

UMLS CUI

C1855188;

Currated CISMeF NLP mapping
- Brachydactyly-short stature-retinitis pigmentosa syndrome [ORDO Disease]
- metaphyseal chondrodysplasia with retinitis pigmentosa [MeSH concept]
- metaphyseal chondrodysplasia with retinitis pigmentosa [MeSH Supplementary Concept]
Genes related to phenotype
- Cwc27 spliceosome-associated cyclophilin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad columella [HPO term]
- Cafe-au-lait spot [HPO term]
- Craniosynostosis [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Feeding difficulties [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- High anterior hairline [HPO term]
- Horseshoe kidney [HPO term]
- Hypoautofluorescent retinal lesion [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Macrotia [HPO term]
- Metaphyseal chondrodysplasia [HPO term]
- Metaphyseal dysplasia [HPO term]
- Micrognathia [HPO term]
- Nyctalopia [HPO term]
- Peripheral visual field loss [HPO term]
- Psychomotor retardation [HPO term]
- Renal cyst [HPO term]
- Retinal degeneration [HPO term]
- Rod-cone dystrophy [HPO term]
- Short distal phalanx of finger [HPO term]
- Short metacarpal [HPO term]
- Short stature [HPO term]
- Small nail [HPO term]
- Sparse eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Thick vermilion border [HPO term]
- Underdeveloped nasal alae [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Brachydactyly-short stature-retinitis pigmentosa syndrome [ORDO Disease]
See also inter- (CISMeF)
- Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly-short stature-retinitis pigmentosa syndrome [ORDO Disease]
- metaphyseal chondrodysplasia with retinitis pigmentosa [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia with retinitis pigmentosa [MeSH concept]

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