RETINITIS PIGMENTOSA 59 (CDG)

Question 1

What is  RETINITIS PIGMENTOSA 59 (CDG)?

Accepted Answer

rare
autosomal recessive
mutation in the DHDDS gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Retinitis pigmentosa

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613861

Question 4

Which enzymes are involved?

Accepted Answer

Dehydrodolichyl diphosphate synthase complex subunit DHDDS

Disease	RETINITIS PIGMENTOSA 59 (CDG)
Synonym	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ibb, INCLUDED; DHDDS-CDG
OMIM	613861 OMIM = Online Mendelian Inheritance of Men
Orphanet	791
Protein (UniProt)	Dehydrodolichyl diphosphate synthase complex subunit DHDDS
ExPASy	2.5.1.87
Gene locus	1p36.11
ICD	H35.5
Summary	rare autosomal recessive mutation in the DHDDS gene
Laboratory findings	Dolichol inc (plasma) Dolichol inc (urine) IEF of serum transferrin (serum)
Symptoms	cryptorchism epilepsy failure to thrive growth retardation, poor growth hearing defect, deafness hepatomegaly (large liver) hypertonia, spasticity hypotonia micropenis night blindness onset, infancy onset, neonatal renal failure, acute/chronic retinitis pigmentosa seizures