ATRANSFERRINEMIA

Question 1

What is  ATRANSFERRINEMIA?

Accepted Answer

very rare
autosomal recessive
mutation in the transferrin gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Atransferrinämie; Hypotransferrinämie, kongenitale

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 209300

Question 4

Which enzymes are involved?

Accepted Answer

Serotransferrin

Disease	ATRANSFERRINEMIA
Synonym	HYPOTRANSFERRINEMIA, FAMILIAL
OMIM	209300 OMIM = Online Mendelian Inheritance of Men
Orphanet	1195
Protein (UniProt)	Serotransferrin
Gene locus	3q22.1
ICD	E88.0
Summary	very rare autosomal recessive mutation in the transferrin gene
Laboratory findings	Iron inc (liver) Transferrin dec (serum)
Symptoms	anemia growth retardation, poor growth heart failure, cardiac failure hemosiderosis infections (severe or recurrent) onset, childhood onset, infancy