TANGIER DISEASE (TGD)

Question 1

What is  TANGIER DISEASE (TGD)?

Accepted Answer

rare
autosomal recessive
mutation in the ABCA1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Tangier-Krankheit; ATP-binding cassette-Transporter A1-Defekt; Analphalipoproteinämie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 205400

Question 4

Which enzymes are involved?

Accepted Answer

ATP-binding cassette sub-family A member 1; Apolipoprotein A-I

Disease	TANGIER DISEASE (TGD)
Synonym	TGD
OMIM	205400 OMIM = Online Mendelian Inheritance of Men
Orphanet	31150
Protein (UniProt)	ATP-binding cassette sub-family A member 1; Apolipoprotein A-I
Gene locus	9q31.1
ICD	E78.6
Summary	rare autosomal recessive mutation in the ABCA1 gene
Laboratory findings	Apolipoprotein A-I dec (serum) HDL-Cholesterol dec (plasma) Triglycerides n/i (serum)
Symptoms	blindness, visual loss, visual impairment cataract corneal clouding corneal deposits coronary heart disease hepatomegaly (large liver) onset, childhood onset, infancy onset, neonatal peripheral neuropathy splenomegaly (large spleen) thrombopenia, thrombocytopenia tonsils, enlarged