CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (CHLND)

Question 1

What is  CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (CHLND)?

Accepted Answer

rare
autosomal recessive
mutation in the SLC33A1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kongenitale Katarakt-Schwerhörigkeit-Entwicklungsverzögerung-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614482

Question 4

Which enzymes are involved?

Accepted Answer

Acetyl-coenzyme A transporter 1

Disease	CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (CHLND)
OMIM	614482 OMIM = Online Mendelian Inheritance of Men
Orphanet	300313
Protein (UniProt)	Acetyl-coenzyme A transporter 1
Gene locus	3q25.31
ICD
Summary	rare autosomal recessive mutation in the SLC33A1 gene
Laboratory findings	Ceruloplasmin dec (serum) Copper dec (serum)
Symptoms	cataract cerebellar atrophy or hypoplasia cerebral atrophy defect of walking, running, rising or climbing early death hearing defect, deafness hypotonia MRI, brain, abnormalities [-] MRS, brain, abnormalities myelination, incomplete, hypomyelination nystagmus onset, infancy onset, neonatal psychomotor retardation seizures speech development, delayed, abnormal