A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency. [ Orphanet:423470 https://orcid.org/0000-0001-5208-3432 ]
Synonyms: GNPTG-mucolipidosis ML 3 gamma mucolipidosis type 3 gamma mucolipidosis type III gamma ML III gamma
Term information
- OMIM:252605 (Orphanet:423470/e)
- GARD:17705 (Orphanet:423470)
- UMLS:C1854896 (Orphanet:423470)
- Orphanet:423470 (OMIM:252605)
- NCIT:C129978 (MONDO:equivalentTo)
- DOID:0080678 (MONDO:equivalentTo)
- MESH:C565367 (MONDO:equivalentTo)
gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen
https://github.com/monarch-initiative/mondo/issues/4948
https://github.com/monarch-initiative/mondo/issues/6021
https://omim.org/entry/252605
http://purl.obolibrary.org/obo/DOID_0080678
http://linkedlifedata.com/resource/umls/id/C1854896
http://www.orpha.net/ORDO/Orphanet_423470
http://identifiers.org/mesh/C565367
http://purl.obolibrary.org/obo/NCIT_C129978
ML 3C
mucolipidosis 3C
mucolipidosis 3 gamma
mucolipidosis III, variant form
mucolipidosis III, complementation group C
mucolipidosis III gamma
mucolipidosis III, Iranian variant form