HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRDS

Question 1

What is  HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRDS?

Accepted Answer

rare
autosomal reessive
mutation in the TBCE gene
mostly reported from Middle East countries

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hypoparathyreoidismus, familiärer isolierter; HRDS

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 241410

Question 4

Which enzymes are involved?

Accepted Answer

Tubulin-specific chaperone E

Disease	HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRDS
Synonym	SANJAD-SAKATI SYNDROME
OMIM	241410 OMIM = Online Mendelian Inheritance of Men
Orphanet	2323
Protein (UniProt)	Tubulin-specific chaperone E
Gene locus	1q42.3
ICD	Q87.1
Summary	rare autosomal reessive mutation in the TBCE gene mostly reported from Middle East countries
Laboratory findings	Calcium dec (serum) Parathyroid hormone (PTH) dec (serum) Phosphate inc (serum)
Symptoms	cryptorchism CT, brain, abnormalities [-] dysmorphism EEG abnormalities [-] epilepsy growth retardation, poor growth infections (severe or recurrent) intrauterine growth retardation low set ears mental retardation microcephaly (<2 SD for age) micropenis microphthalmus onset, infancy psychomotor retardation seizures tetany