CATARACT 47 (CTRCT47)

Question 1

What is  CATARACT 47 (CTRCT47)?

Accepted Answer

very rare

autosomal dominant

mutation in the SLC16A12 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 612018

Question 3

Which enzymes are involved?

Accepted Answer

Monocarboxylate transporter 12

Disease	CATARACT 47 (CTRCT47)
Synonym	SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 12; SLC16A12
OMIM	612018 OMIM = Online Mendelian Inheritance of Men
Orphanet	247794
Protein (UniProt)	Monocarboxylate transporter 12
Gene locus	10q23.31
ICD
Summary	very rare autosomal dominant mutation in the SLC16A12 gene
Laboratory findings	Guanidinoacetic acid / Guanidinoacetate inc (urine) D-Glucose inc (urine)
Symptoms	cataract glucosuria microcornea onset, childhood