PENDRED SYNDROME (PDS)

Question 1

What is  PENDRED SYNDROME (PDS)?

Accepted Answer

rare (7.5-10:100000)
autosomal recessive
mutation in the SLC26A4 gene
most common cause of syndromic deafness

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Pendred-Syndrom; Kropf - Schwerhörigkeit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 274600

Question 4

Which enzymes are involved?

Accepted Answer

abnormal chloride-iodide transport protein (pendrin)

Disease	PENDRED SYNDROME (PDS)
Synonym	THYROID HORMONOGENESIS, GENETIC DEFECT IN, IIB THYROID HORMONE ORGANIFICATION DEFECT IIB DEAFNESS WITH GOITER GOITER-
OMIM	274600 OMIM = Online Mendelian Inheritance of Men
Orphanet	705
Protein (UniProt)	abnormal chloride-iodide transport protein (pendrin)
Gene locus	7q22.3
ICD	E07.1
Summary	rare (7.5-10:100000) autosomal recessive mutation in the SLC26A4 gene most common cause of syndromic deafness
Laboratory findings	Thyroid-stimulating hormone (TSH) inc (serum)
Symptoms	contractures, joints ear anomalies (pits, creases) edema goiter hearing defect, deafness hypothyroidism onset, infancy onset, neonatal short stature