GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Mucolipidosis Type IV  
Disease Aliases (20)

Berman syndrome

Deficiency disease, ganglioside sialidase

Ganglioside sialidase deficiency disease

Ganglioside neuraminidase deficiency

Ganglioside sialidase deficiency

Ml 4

Ml iv

Ml4

Mliv

Mucolipidoses, type iv

Mucolipidosis type 4

Mucolipidosis type iv

Mucolipidosis, type iv

Sialolipidosis

Sialolipidoses

Type iv mucolipidoses

Type iv mucolipidosis

Mucolipidosis 4

Mucolipidosis iv

Mucolipidosis iv; ml4

Associated Genes (1)
 

NCBI-RefSeq:  MCOLN1   (Mucolipin TRP cation channel 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Mucolipidosis type IV OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations