MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND

Question 1

What is  MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND?

Accepted Answer

rare
autosomal recessive
mutation in the AP1S1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

MEDNIK-Syndrom; Intelligenzminderung - Enteropathie - Schwerhörigkeit - periphere Neuropathie - Ichthyose - Keratodermi

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 609313

Question 4

Which enzymes are involved?

Accepted Answer

AP-1 complex subunit sigma-1A

Disease	MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND
Synonym	ERYTHROKERATODERMIA VARIABILIS, KAMOURASKA TYPE; MEDNIK
OMIM	609313 OMIM = Online Mendelian Inheritance of Men
Orphanet	171851
Protein (UniProt)	AP-1 complex subunit sigma-1A
Gene locus	7q22.1
ICD
Summary	rare autosomal recessive mutation in the AP1S1 gene
Laboratory findings	Ceruloplasmin dec (serum) Copper (serum) Transaminases (ASAT/ALAT) inc (serum) Very-long-chain fatty acids inc (serum)
Symptoms	cataract cholestasis cirrhosis or fibrosis of liver developmental delay diarrhea erythema growth retardation, poor growth hearing defect, deafness hyperkeratosis hypotonia ichthyosis liver involvement or dysfunction mental retardation onset, neonatal peripheral neuropathy