ALPORT SYNDROME

Question 1

What is  ALPORT SYNDROME?

Accepted Answer

rare
X-linked dominant
mutation in the collagen, type IV, alpha-5 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Alport-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 301050

Question 4

Which enzymes are involved?

Accepted Answer

Collagen alpha-5(IV) chain

Disease	ALPORT SYNDROME
Synonym	ALPORT SYNDROME; NEPHROPATHY AND DEAFNESS, X-LINKED
OMIM	301050 OMIM = Online Mendelian Inheritance of Men
Orphanet	63
Protein (UniProt)	Collagen alpha-5(IV) chain
Gene locus	Xq22.3
ICD	Q87.8
Summary	rare X-linked dominant mutation in the collagen, type IV, alpha-5 gene
Laboratory findings	Erythrocytes inc (urine) Protein inc (urine) Thrombocytes, Platelets normal/dec (blood)
Symptoms	cataract DNA eye defect beginning in infancy or childhood hearing defect, deafness hematuria hypertension ichthyosis myopia nephritis nephropathy nephrotic syndrome onset, adolescent onset, adulthood onset, childhood proteinuria renal failure, acute/chronic thrombopenia, thrombocytopenia