What is IMMUNODEFICIENCY 47 (IMD47); ATP6-CDG?

very rare X-linked recessive mutation in the ATP6AP1 gene

Which enzymes are involved?

V-type proton ATPase subunit S1

Disease	IMMUNODEFICIENCY 47 (IMD47); ATP6-CDG
Synonym	ATP6-CDG
OMIM	300972 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	V-type proton ATPase subunit S1
Gene locus	Xq28
ICD
Summary	very rare X-linked recessive mutation in the ATP6AP1 gene
Laboratory findings	Ceruloplasmin dec (serum) Copper dec (urine) Phosphatase, alkaline inc (serum) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	behavior, abnormal or bizarre, confusion cirrhosis or fibrosis of liver cutis laxa hearing defect, deafness hepatomegaly (large liver) immunodeficiency infections (severe or recurrent) intellectual disability/intellectual developmental disorder jaundice leukopenia liver involvement or dysfunction onset, childhood onset, infancy pain, abdominal pancreatic dysfunction, exocrine seizures splenomegaly (large spleen)