NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5 (WDR45)

Question 1

What is  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5 (WDR45)?

Accepted Answer

rare

X-linked dominant

mutation in the WDR45 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 300894

Question 3

Which enzymes are involved?

Accepted Answer

WD repeat domain phosphoinositide-interacting protein 4

Disease	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5 (WDR45)
Synonym	BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION; BPAN
OMIM	300894 OMIM = Online Mendelian Inheritance of Men
Orphanet	329284
Protein (UniProt)	WD repeat domain phosphoinositide-interacting protein 4
Gene locus	Xp11.23
ICD	G23.0
Summary	rare X-linked dominant mutation in the WDR45 gene
Laboratory findings	Neuron Specific Enolase (NSE) inc (serum)
Symptoms	behavior, aggressive cerebellar atrophy or hypoplasia cerebral atrophy dementia dystonia encephalopathy eye movements, abnormal intellectual disability/intellectual developmental disorder lethargy, drowsiness, apathy MRI, brain, abnormalities [-] onset, adolescent onset, childhood onset, infancy Parkinsonism psychomotor retardation seizures speech development, delayed, abnormal tremor or twitching