Table 3. [Multisystem Disorders in the Differential Diagnosis of EPG5-Related Disorder]. - GeneReviews®

Gene(s)	Differential Disorder	MOI	Phenotype
AP3B1 AP3D1	Hermansky-Pudlak syndrome types 2 (AP3B1) & 10 (AP3D1)	AR	Primary immunodeficiency w/(oculo-)cutaneous hypopigmentation, DD, seizures, & failure to gain weight Not assoc w/ACC or cardiomyopathy
CTDP1	Congenital cataracts, facial dysmorphism, & neuropathy	AR	Cataracts, myopathy, neuropathy, DD, brain malformation Not assoc w/cardiomyopathy, immunodeficiency, or hypopigmentation
LAMTOR2	LAMTOR2-associated primary immunodeficiency (OMIM 610798)	AR	Primary immunodeficiency w/↓ of memory B cells, cutaneous hypopigmentation, coarse facies, short stature Not assoc w/neurologic features (DD, mvmt disorders) or brain malformations
LYST	Chediak-Higashi syndrome	AR	Primary immunodeficiency w/hemophagocytic lymphohistiocytosis, oculocutaneous albinism, failure to gain weight, delayed myelination, cortical atrophy, mvmt disorder, myopathy Not assoc w/ACC or cardiomyopathy
PI4K2A ¹ PI4KA ²	PI4 kinase deficiency (See PI4KA-Related Disorder.)	AR	Neurodevelopmental disabilities, dysplastic corpus callosum, immunodeficiency
RAB27A	Griscelli syndrome type 2 (OMIM 607624)	AR	Primary immunodeficiency w/hemophagocytic lymphohistiocytosis, cutaneous albinism, mvmt disorder Not assoc w/ACC or cardiomyopathy
RAB3GAP1 RAB3GAP2 RAB18 TBC1D20	Warburg micro syndrome (See RAB18 Deficiency.)	AR	Dysgenesis of corpus callosum, DD, mvmt disorder, microcephaly Not assoc w/immunodeficiency or hypopigmentation
SIL1	Marinesco-Sjögren syndrome	AR	DD, cataracts, myopathy, neuropathy, mvmt disorder, skeletal deformities Not assoc w/cardiomyopathy, immunodeficiency, or hypopigmentation
SNAP29	SNAP29-associated cerebral dysgenesis (OMIM 609528)	AR	Dysgenesis of corpus callosum, neuronal migration abnormalities, progressive microcephaly, DD, ichthyosis, palmoplantar keratoderma Not assoc w/immunodeficiency or cardiomyopathy
VPS45	VPS45-associated immunodeficiency (OMIM 615285)	AR	Primary immunodeficiency w/failure to gain weight & DD Not assoc w/hypopigmentation or brain malformations

Gene(s)

Differential Disorder

MOI

Phenotype

AP3B1
AP3D1

Hermansky-Pudlak syndrome types 2 (AP3B1) & 10 (AP3D1)

Primary immunodeficiency w/(oculo-)cutaneous hypopigmentation, DD, seizures, & failure to gain weight
Not assoc w/ACC or cardiomyopathy

CTDP1

Congenital cataracts, facial dysmorphism, & neuropathy

Cataracts, myopathy, neuropathy, DD, brain malformation
Not assoc w/cardiomyopathy, immunodeficiency, or hypopigmentation

LAMTOR2

LAMTOR2-associated primary immunodeficiency (OMIM 610798)

Primary immunodeficiency w/↓ of memory B cells, cutaneous hypopigmentation, coarse facies, short stature
Not assoc w/neurologic features (DD, mvmt disorders) or brain malformations

LYST

Chediak-Higashi syndrome

Primary immunodeficiency w/hemophagocytic lymphohistiocytosis, oculocutaneous albinism, failure to gain weight, delayed myelination, cortical atrophy, mvmt disorder, myopathy
Not assoc w/ACC or cardiomyopathy

PI4K2A ¹
PI4KA ²

PI4 kinase deficiency (See PI4KA-Related Disorder.)

Neurodevelopmental disabilities, dysplastic corpus callosum, immunodeficiency

RAB27A

Griscelli syndrome type 2 (OMIM 607624)

Primary immunodeficiency w/hemophagocytic lymphohistiocytosis, cutaneous albinism, mvmt disorder
Not assoc w/ACC or cardiomyopathy

RAB3GAP1
RAB3GAP2
RAB18
TBC1D20

Warburg micro syndrome (See RAB18 Deficiency.)

Dysgenesis of corpus callosum, DD, mvmt disorder, microcephaly
Not assoc w/immunodeficiency or hypopigmentation

SIL1

Marinesco-Sjögren syndrome

DD, cataracts, myopathy, neuropathy, mvmt disorder, skeletal deformities
Not assoc w/cardiomyopathy, immunodeficiency, or hypopigmentation

SNAP29

SNAP29-associated cerebral dysgenesis (OMIM 609528)

Dysgenesis of corpus callosum, neuronal migration abnormalities, progressive microcephaly, DD, ichthyosis, palmoplantar keratoderma
Not assoc w/immunodeficiency or cardiomyopathy

VPS45

VPS45-associated immunodeficiency (OMIM 615285)

Primary immunodeficiency w/failure to gain weight & DD
Not assoc w/hypopigmentation or brain malformations

From: EPG5-Related Disorder

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