METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

METACHROMATIC LEUKODYSTROPHY DUE TO CEREBROSIDE SULFATASE ACTIVATOR DEFICIENCY

http://purl.bioontology.org/ontology/OMIM/249900

METACHROMATIC LEUKODYSTROPHY DUE TO CEREBROSIDE SULFATASE ACTIVATOR DEFICIENCY

MLDSAPB

SAPOSIN B DEFICIENCY

C0268262

10q22.1

PSAPD

PSAP

SAP1

PARK24

http://purl.bioontology.org/ontology/OMIM/MTHU000474

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU001672

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU020670

http://purl.bioontology.org/ontology/OMIM/MTHU004473

http://purl.bioontology.org/ontology/OMIM/MTHU036392

http://purl.bioontology.org/ontology/OMIM/MTHU032261

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU002306

http://purl.bioontology.org/ontology/OMIM/MTHU023238

http://purl.bioontology.org/ontology/OMIM/MTHU036428

http://purl.bioontology.org/ontology/OMIM/MTHU023236

http://purl.bioontology.org/ontology/OMIM/MTHU023234

http://purl.bioontology.org/ontology/OMIM/MTHU000700

http://purl.bioontology.org/ontology/OMIM/MTHU003009

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU036555

http://purl.bioontology.org/ontology/OMIM/MTHU011421

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU023235

http://purl.bioontology.org/ontology/OMIM/MTHU023237

Phenotype description, molecular basis known.

249900

3

pound

METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

Caused by mutation in the prosaposin gene (PSAP, 176801.0001) [MOLECULAR BASIS]

Variable severity [MISCELLANEOUS]

Disease course depends on age at onset [MISCELLANEOUS]

Variable age at onset (infant to adult) [MISCELLANEOUS]

T047