GenTIGSA Gene Database on Rare Genetic Disorders
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Ehlers-Danlos Syndrome, Musculocontractural Type  
Disease Aliases (38)

Adducted thumb, clubfoot, and progressive joint and skin laxity syndrome

Adducted thumb-clubfoot syndrome

Arthrogryposis, distal, with peculiar facies and hydronephrosis

Atcs

Adducted thumb - clubfoot syndrome

Adducted thumb clubfoot syndrome

Adducted thumbs - arthrogryposis, dundar type

Adducted thumbs dundar type

Autosomal recessive adducted thumb-club foot syndrome

Chst14-related eds

Chst14-related ehlers-danlos syndrome

D4st1-deficient eds

D4st1-deficient ehlers-danlos syndrome

Dundar syndrome

Distal arthrogryposis with peculiar facies and hydronephrosis

Dündar syndrome

Eds, kosho type

Eds, arthrogryposic type

Eds, musculocontractural type

Eds6b, formerly

Edsmc

Edsmc1

Ehlers-danlos syndrome, type vib, formerly

Ehlers-danlos syndrome, kosho type

Ehlers-danlos syndrome, arthrogryposic type

Ehlers-danlos syndrome, musculocontractural type

Ehlers-danlos syndrome, musculocontractural type 1

Ehlers-danlos syndrome, musculocontractural type 1; edsmc1

Ehlers-danlos syndrome, musculocontractural type, 1

Ehlers-danlos syndrome, musculocontractural type, 1; edsmc1

Ehlers-danlos syndrome, type vib

Kosho type

Mceds

Musculocontractural eds

Musculocontractural ehlers-danlos syndrome

Adducted thumb-club foot syndrome

Adducted thumbs-arthrogryposis syndrome, dundar type

Associated Genes (2)
 

NCBI-RefSeq:  DSE   (Dermatan sulfate epimerase)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CHST14   (Carbohydrate sulfotransferase 14)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Ehlers-Danlos syndrome, musculocontractural type OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations