DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (DOORS)

Question 1

What is  DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (DOORS)?

Accepted Answer

rare
autosomal recessive
mutation in the TBC1D24 gene
2 types:
- organic acid abnormalities
- not accompanied with organic acid abnormalities

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

DOORS-Syndrom; Schwerhörigkeit - Onychodystrophie - Osteodystrophie - Intelligenzminderung

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 220500

Question 4

Which enzymes are involved?

Accepted Answer

TBC1 domain family member 24

Disease	DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (DOORS)
Synonym	DOOR SYNDROME
OMIM	220500 OMIM = Online Mendelian Inheritance of Men
Orphanet	79500
Protein (UniProt)	TBC1 domain family member 24
Gene locus	16p13.3
ICD	Q87.8
Summary	rare autosomal recessive mutation in the TBC1D24 gene 2 types: - organic acid abnormalities - not accompanied with organic acid abnormalities
Laboratory findings	Sedoheptulose-7-phosphate inc (urine) 2-Oxoglutaric acid inc (urine)
Symptoms	ataxia blindness, visual loss, visual impairment cataract cerebral atrophy coarse facial features congenital heart defect dermatoglyphic abnormalities developmental delay dysmorphism early death feeding difficulties, poor feeding hearing defect, deafness hyporeflexia hypotonia mental retardation microcephaly (<2 SD for age) MRI, brain, abnormalities [-] myopia onset, infancy onychodystrophy optic atrophy osteodystrophy peripheral neuropathy psychomotor retardation renal cysts seizures short stature