Table 2. [Pediatric Genetic Cholestatic Liver Diseases:...]. - GeneReviews®

Gene ^1, 2	Disorder	Laboratory Findings	Clinical Features / Comments
AKR1D1 ³	CBAS2 (OMIM 235555)	↑ AST/ALT; ↑ GGTP	No pruritus; HSM
AMACR ³	CBAS4 (OMIM 214950)	↓ serum bile acids	Motor neuropathy in adult-onset phenotype
BAAT ⁴	Bile acid conjugation defect 1 (OMIM 619232)	↑ or normal AST/ALT	Possible ESLD; high carrier frequency of BAAT-related genetic cholestatic liver disease in Lancaster County Old Order Amish community ⁵
CYP7B1 ³	CBAS3 (OMIM 613812)	↑ AST/ALT; ↓ or normal GGTP	HSM, synthetic dysfunction
CYP27A1 ⁶	Cerebrotendinous xanthomatosis	Cholestasis w/↓ or normal bile acids	Neonatal onset; neurologic findings & diarrhea
HSD3B7 ³	CBAS1 (OMIM 607765)	↑ AST/ALT; ↓ or normal GGTP; ↓ serum bile acids	Most common defect; similar clinically to PFIC1 (see ATP8B1 deficiency in Table 1) but w/o pruritus or HSM

Gene ^1, 2

Disorder

Laboratory Findings

Clinical Features / Comments

AKR1D1 ³

CBAS2 (OMIM 235555)

↑ AST/ALT; ↑ GGTP

No pruritus; HSM

AMACR ³

CBAS4 (OMIM 214950)

↓ serum bile acids

Motor neuropathy in adult-onset phenotype

BAAT ⁴

Bile acid conjugation defect 1 (OMIM 619232)

↑ or normal AST/ALT

Possible ESLD; high carrier frequency of BAAT-related genetic cholestatic liver disease in Lancaster County Old Order Amish community ⁵

CYP7B1 ³

CBAS3 (OMIM 613812)

↑ AST/ALT; ↓ or normal GGTP

HSM, synthetic dysfunction

CYP27A1 ⁶

Cerebrotendinous xanthomatosis

Cholestasis w/↓ or normal bile acids

Neonatal onset; neurologic findings & diarrhea

HSD3B7 ³

CBAS1 (OMIM 607765)

↑ AST/ALT; ↓ or normal GGTP; ↓ serum bile acids

Most common defect; similar clinically to PFIC1 (see ATP8B1 deficiency in Table 1) but w/o pruritus or HSM

From: Pediatric Genetic Cholestatic Liver Disease Overview

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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