GenTIGSA Gene Database on Rare Genetic Disorders
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