temtamy preaxial brachydactyly syndrome

Summary
Synonym
  • PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
Definition
A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.
Super Class
autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:0050814
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
22856 CHSY1 chondroitin sulfate synthase 1
23483 TGDS TDP-glucose 4,6-dehydratase
Displaying 1 entry
Gene ID Gene Symbol Description Source
269941 Chsy1 chondroitin sulfate synthase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
292999 Chsy1 chondroitin sulfate synthase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
32497 Chsy Chondroitin sulfate synthase
Displaying 1 entry
Gene ID Gene Symbol Description Source
324407 chsy1 chondroitin sulfate synthase 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
100036707 chsy1 chondroitin sulfate synthase 1 Xenopus tropicalis (tropical clawed frog)
108711484 chsy1.L chondroitin sulfate synthase 1 L homeolog Xenopus laevis (African clawed frog)
108712816 chsy1.S chondroitin sulfate synthase 1 S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
172851 sqv-5 Chondroitin sulfate synthase sqv-5;Hexosyltransferase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q86X52 Chondroitin sulfate synthase 1
The Human Phenotype Ontology
Displaying entries 31 - 40 of 61 in total
HPO ID HPO Term
HP:0008625 Severe sensorineural hearing impairment
HP:0009466 Radial deviation of finger
HP:0009608 Complete duplication of proximal phalanx of the thumb
HP:0009942 Duplication of thumb phalanx
HP:0009944 Partial duplication of thumb phalanx
HP:0009966 Complete duplication of the middle phalanx of the 3rd finger
HP:0009970 Partial duplication of the proximal phalanx of the 3rd finger
HP:0010109 Short hallux
HP:0010554 Cutaneous finger syndactyly
HP:0011078 Abnormality of canine
Displaying 1 entry
Gene ID Gene Symbol Description
22856 CHSY1 chondroitin sulfate synthase 1

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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: August 19, 2024