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;

Details

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)
- Absent middle phalanx of 2nd finger [HPO term]
- Absent middle phalanx of 5th finger [HPO term]
- Accessory oral frenulum [HPO term]
- Acute kidney injury [HPO term]
- Anemia [HPO term]
- Ataxia [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Broad metacarpals [HPO term]
- Cataract [HPO term]
- Childhood onset [HPO term]
- Cholangitis [HPO term]
- Cholestasis [HPO term]
- Chronic renal failure [HPO term]
- Clinodactyly of the 2nd finger [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cognitive impairment [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Cone-shaped epiphysis [HPO term]
- Congenital hepatic fibrosis [HPO term]
- Congenital onset [HPO term]
- Craniosynostosis [HPO term]
- Cutis laxa [HPO term]
- Depressed nasal bridge [HPO term]
- Edema [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Fair hair [HPO term]
- Frontal bossing [HPO term]
- Frontal upsweep of hair [HPO term]
- Full cheeks [HPO term]
- Global developmental delay [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypertension [HPO term]
- Hypoplasia of the capital femoral epiphysis [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, mild [HPO term]
- Low-set ears [HPO term]
- Macroglossia [HPO term]
- Macular degeneration [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Micrognathia [HPO term]
- Narrow chest [HPO term]
- Narrow forehead [HPO term]
- Nephronophthisis [HPO term]
- Nephropathy [HPO term]
- Nystagmus [HPO term]
- Osteopenia [HPO term]
- Pancreatic cysts [HPO term]
- Peripheral visual field loss [HPO term]
- Persistent head lag [HPO term]
- Phalangeal cone-shaped epiphyses [HPO term]
- Poor head control [HPO term]
- Postaxial hand polydactyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent forehead [HPO term]
- Prominent metopic ridge [HPO term]
- Recurrent respiratory infections [HPO term]
- Reduced renal corticomedullary differentiation [HPO term]
- Renal cyst [HPO term]
- Renal dysplasia [HPO term]
- Retinal dystrophy [HPO term]
- Rhizomelia [HPO term]
- Rod-cone dystrophy [HPO term]
- Scaphocephaly [HPO term]
- Seizure [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short metatarsal [HPO term]
- Short middle phalanx of finger [HPO term]
- Short neck [HPO term]
- Short phalanx of finger [HPO term]
- Short ribs [HPO term]
- Short stature [HPO term]
- Short thorax [HPO term]
- Short toe [HPO term]
- Smooth philtrum [HPO term]
- Sparse scalp hair [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Thin skin [HPO term]
- Thoracic hypoplasia [HPO term]
- Trigonocephaly [HPO term]
- Umbilical hernia [HPO term]
- Undetectable electroretinogram [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ureteral duplication [HPO term]
- Ventriculomegaly [HPO term]
- Visual loss [HPO term]
- Wide anterior fontanel [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [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]

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