Short-rib thoracic dysplasia 9 with or without polydactyly

Preferred Label : Short-rib thoracic dysplasia 9 with or without polydactyly;

Symbol : SRTD9;

CISMeF acronym : SRTD9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mainzer-saldino syndrome; Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia; Conorenal syndrome; MZSDS;

Description : Mainzer-Saldino syndrome, or conorenal syndrome, is a multisystem disorder characterized by early-onset retinopathy, phalangeal cone-shaped epiphyses, and chronic renal disease. More variable features include short stature, craniosynostosis, small thorax, and hepatic fibrosis. It is considered a skeletal ciliopathy (summary by Perrault et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the intraflagellar transport 140 gene (IFT140, 614620.0001);

Prefixed ID : #266920;

Détails

Origin ID

266920;

UMLS CUI

C1849437;

Currated CISMeF NLP mapping
- Mainzer-Saldino Disease [MeSH concept]
- Mainzer-Saldino disease [MeSH Supplementary Concept]
- Saldino-Mainzer dysplasia (disorder) [SNOMED CT concept]
- Saldino-Mainzer syndrome [ICD-11 More detail]
- Saldino-Mainzer syndrome [ORDO Disease]
- short-rib thoracic dysplasia 9 with or without polydactyly [DO Concept]
DO Cross reference
- short-rib thoracic dysplasia 9 with or without polydactyly [DO Concept]
Genes related to phenotype
- Intraflagellar transport 140 [OMIM gene]
HPO term(s)
- Accessory oral frenulum [HPO term]
- Anemia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Cholestasis [HPO term]
- Chronic renal failure [HPO term]
- Cognitive impairment [HPO term]
- Cone-shaped epiphysis [HPO term]
- Craniosynostosis [HPO term]
- Frontal bossing [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- High palate [HPO term]
- Hypoplasia of the capital femoral epiphysis [HPO term]
- Infantile onset [HPO term]
- Macroglossia [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Narrow forehead [HPO term]
- Nephronophthisis [HPO term]
- Nephropathy [HPO term]
- Nystagmus [HPO term]
- Prominent forehead [HPO term]
- Renal cyst [HPO term]
- Renal dysplasia [HPO term]
- Rod-cone dystrophy [HPO term]
- Scaphocephaly [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short phalanx of finger [HPO term]
- Short ribs [HPO term]
- Short stature [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Trigonocephaly [HPO term]
- Visual loss [HPO term]
- Wide mouth [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Saldino-Mainzer syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mainzer-Saldino Disease [MeSH concept]
- Mainzer-Saldino disease [MeSH Supplementary Concept]
- Mainzer-Saldino syndrome [MedDRA Preferred Term]
- Saldino-Mainzer dysplasia (disorder) [SNOMED CT concept]
- Saldino-Mainzer syndrome [ORDO Disease]
- Saldino-Mainzer syndrome [ICD-11 More detail]
- short-rib thoracic dysplasia 9 with or without polydactyly [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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