ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (ASAT)

Question 1

What is  ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (ASAT)?

Accepted Answer

rare

X-linked recessive

mutation in the ABCB7 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 301310

Question 3

Which enzymes are involved?

Accepted Answer

ATP-binding cassette sub-family B member 7, mitochondrial

Disease	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (ASAT)
OMIM	301310 OMIM = Online Mendelian Inheritance of Men
Orphanet	2802
Protein (UniProt)	ATP-binding cassette sub-family B member 7, mitochondrial
Gene locus	Xq13.3
ICD	D64.0
Summary	rare X-linked recessive mutation in the ABCB7 gene
Laboratory findings	Hemoglobine dec (blood)
Symptoms	anemia ataxia dysarthria hyperreflexia myoclonus onset, childhood onset, infancy sideroblastic anemia tremor or twitching