Catel Manzke syndrome

Summary
Synonym
  • Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
  • Micrognathia digital syndrome
Definition
A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32.
Super Class
bone disease
Disease Ontology
DOID:0081122
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23483 TGDS TDP-glucose 4,6-dehydratase
The Human Phenotype Ontology
Displaying entries 21 - 30 of 63 in total
HPO ID HPO Term
HP:0000767 Pectus excavatum
HP:0002650 Scoliosis
HP:0000316 Hypertelorism
HP:0009467 Radial deviation of the 2nd finger
HP:0001629 Ventricular septal defect
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000028 Cryptorchidism
HP:0000160 Narrow mouth
HP:0000193 Bifid uvula
Displaying 1 entry
Gene ID Gene Symbol Description
23483 TGDS TDP-glucose 4,6-dehydratase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024