ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY; SIDBA2

Question 1

What is  ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY; SIDBA2?

Accepted Answer

rare
autosomal recessive
mutation in the SLC25A38 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Sideroblastische Anämie, autosomal-rezessiv

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 205950

Question 4

Which enzymes are involved?

Accepted Answer

Solute carrier family 25 member 38

Disease	ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY; SIDBA2
OMIM	205950 OMIM = Online Mendelian Inheritance of Men
Orphanet	260305
Protein (UniProt)	Solute carrier family 25 member 38
Gene locus	3p22.1
ICD	D64.0
Summary	rare autosomal recessive mutation in the SLC25A38 gene
Laboratory findings	Ferritin inc (serum)
Symptoms	anemia hepatomegaly (large liver) onset, infancy sideroblastic anemia splenomegaly (large spleen)