Table 4.

Selected Monogenic Disorders in the Differential Diagnosis of Cerebrotendinous Xanthomatosis

FeatureGenetic DisorderGene(s)MOI
Chronic
diarrhea 		Congenital diarrhea (OMIM PS214700) DGAT1
EPCAM
GUCY2C
MYO5B
NEUROG3
PERCC1
PLVAP
SLC26A3
SLC9A3
SPINT2
STX3
WNT2B 		AR
AD 1
Neonatal
cholestasis 2 		Alagille syndrome JAG1
NOTCH2 		AD
Dubin-Johnson syndrome (OMIM 237500) ABCC2 AR
Neonatal intrahepatic cholestasis caused by citrin deficiency SLC25A13 AR
Progressive familial intrahepatic cholestasis (see ATP8B1 deficiency & OMIM PS211600) ABCB4
ABCB11
ATP8B1
NR1H4
SLC51A
TJP2 		AR
Juvenile
cataracts 		Myotonic dystrophy type 1 DMPK AD
Xanthomas Sitosterolemia. Note: Tendon xanthomas or tuberous (i.e., planar) xanthomas can occur in childhood & in unusual locations (heels, knees, elbows, & buttocks). ABCG5
ABCG8 		AR
Familial hypercholesterolemia (FH). Note: Common locations of xanthomas incl around eyelids, tendons of elbows, hands, knees, & feet, particularly Achilles tendon. Interdigital xanthomas occur in persons w/homozygous FH. APOB
LDLR
PCSK9 		AD
Spastic
paraplegia 		See Hereditary Spastic Paraplegia Overview.>80 genesAD
AR
XL
Mat
Ataxia See Hereditary Ataxia Overview.>130 genesAD
AR
XL
Intellectual
disability 		See OMIM Autosomal Dominant, Autosomal Recessive, Nonsyndromic X-Linked, & Syndromic X-Linked Intellectual Developmental Disorder Phenotypic Series.>200 genesAD
AR
XL
Genetic
leukoenceph-
alopathies 		See Vanderver [2016].>100 genesAD
AR
XL
Mat

AD = autosomal dominant; AR = autosomal recessive; Mat = maternal; MOI = mode of inheritance; XL = X-linked

1.

Inheritance is autosomal recessive with the exception of GUCY2C-related diarrhea, which is inherited in an autosomal dominant manner.

2.

From: Cerebrotendinous Xanthomatosis

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