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Diseases
COMPLEX MOLECULE AND ORGANELLE METABOLISM
19 Disorders of organelle biogenesis, dynamics and interactions
19.6 Disorders of vesicular trafficking
19.6.3 Disorders of the adaptor protein complexes
AP3D1 deficiency
Hermansky-Pudlak syndrome type 10
X-linked recessive ocular albinism
Ocular albinism with late-onset sensorineural deafness
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Gene products
Pathways
Multimers
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About Online IMD
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Home
Diseases
COMPLEX MOLECULE AND ORGANELLE METABOLISM
19 Disorders of organelle biogenesis, dynamics and interactions
19.6 Disorders of vesicular trafficking
19.6.3 Disorders of the adaptor protein complexes
AP3D1 deficiency
Hermansky-Pudlak syndrome type 10
X-linked recessive ocular albinism
Ocular albinism with late-onset sensorineural deafness
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
AP3D1 deficiency
Type
Disease
External link(s)
IEMbase
Gene
AP3D1
/ adaptor related protein complex 3 delta 1 subunit
19p13.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Adaptor protein complex 3 subunit delta-1
Disease group(s)
19.6.3 Disorders of the adaptor protein complexes
Child entries
Hermansky-Pudlak syndrome type 10
X-linked recessive ocular albinism
Ocular albinism with late-onset sensorineural deafness