Catel-manzke syndrome

Preferred Label : Catel-manzke syndrome;

Symbol : CATMANS;

CISMeF acronym : CATMANS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Palatodigital syndrome, catel-manzke type; Index finger anomaly with pierre robin syndrome; Micrognathia digital syndrome; Hyperphalangy-clinodactyly of index finger with pierre robin syndrome; Pierre robin syndrome with hyperphalangy and clinodactyly;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the TDP-glucose 4,6-dehydratase gene (TGDS, 616146.0001);

Prefixed ID : #616145;

Details

Origin ID

616145;

UMLS CUI

C1844887;

Automatic exact mappings (from CISMeF team)
- Catel-Manzke syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Catel Manzke syndrome [MeSH concept]
- Catel Manzke syndrome (disorder) [SNOMED CT concept]
- Catel-Manzke syndrome [ORDO Disease]
- catel manzke syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Tdp-glucose 4,6-dehydratase [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coarctation of aorta [HPO term]
- Cryptorchidism [HPO term]
- Cystic hygroma [HPO term]
- Dextrocardia [HPO term]
- Global developmental delay [HPO term]
- Glossoptosis [HPO term]
- High palate [HPO term]
- Hyperphalangy of the 2nd finger [HPO term]
- Inguinal hernia [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint dislocation [HPO term]
- Joint laxity [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Overriding aorta [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Postnatal growth retardation [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Single transverse palmar crease [HPO term]
- Talipes equinovarus [HPO term]
- Ulnar deviation of the 2nd finger [HPO term]
- Umbilical hernia [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Catel-Manzke syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Catel Manzke syndrome [MeSH concept]
- Catel Manzke syndrome [MedDRA Preferred Term]
- Catel Manzke syndrome (disorder) [SNOMED CT concept]
- Catel-Manzke syndrome [ORDO Disease]
- catel manzke syndrome [MeSH Supplementary Concept]

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