What is CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ia (PMM2-CDG)?

rare (>300 patients) autosomal recessive mutations in PMM2; two subtypes: a neurological form with psychomotor retardation, strabismus, cerebellar hypoplasia, and retinitis pigmentosa, and a multivisceral form with neurological and extraneurological manifestations including liver, cardiac, renal, or gastrointestinal involvement [de Lonlay P et al. 2001]

Gibt es eine deutsche Bezeichnung?

CDG-Syndrom Typ Ia; Phosphomannomutase 2-Mangel

CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ia (PMM2-CDG)

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ia (PMM2-CDG)
Synonym	CDG1A; PMM2-CDG; JAEKEN SYNDROME
OMIM	212065 OMIM = Online Mendelian Inheritance of Men
Orphanet	79318
Protein (UniProt)	phosphomannomutase 2
ExPASy	5.4.2.8
Gene locus	16p13.2
ICD	E77.8
Summary	rare (>300 patients) autosomal recessive mutations in PMM2; two subtypes: a neurological form with psychomotor retardation, strabismus, cerebellar hypoplasia, and retinitis pigmentosa, and a multivisceral form with neurological and extraneurological manifestations including liver, cardiac, renal, or gastrointestinal involvement [de Lonlay P et al. 2001]
Laboratory findings	Albumin inc (serum) Antithrombin III (AT III) dec (plasma) Asialotransferrin inc (serum) Cholesterol dec (serum) Disialotransferrin inc (serum) IEF of serum transferrin, type 1 pattern (serum) Tetrasialotransferrin dec (serum) Tetrasialotransferrin dec (serum) Thyroxine binding globuline (TBG) normal/dec (serum) Transaminases (ASAT/ALAT) inc (serum) alpha1-Antitrypsine dec (serum) Carbohydrate-deficient transferrins inc (serum) D-Glucose normal/inc (serum) Haptoglobin dec (serum) Phosphomannomutase dec (fibroblasts) Transferrin normal/dec (serum)
Symptoms	cerebellar atrophy or hypoplasia anorexia ataxia behavior, anxiety behavior, autism or autistic-like cardiomyopathy contractures, joints demyelinisation dysmorphism dystonia epilepsy hypotonia inverted nipples liver involvement or dysfunction osteopenia psychomotor retardation retinitis pigmentosa retinopathy strabismus vomiting ascites cataract cirrhosis or fibrosis of liver clinodactyly Coagulopathy/Coagulation factors diarrhea dysostosis multiplex early death enteropathy, protein-loosing failure to thrive feeding difficulties, poor feeding growth retardation, poor growth heart involvement hepatomegaly (large liver) hydrops fetalis hyperinsulinism hypoglycemia hyporeflexia hypothyroidism intracranial hemorrhage, hematoma limb abnormalities, limb deformities lipodystrophia mental retardation motor retardation MRI, brain, abnormalities [-] nephromegaly nephrosis nephrotic syndrome nystagmus onset, childhood onset, infancy pericardial effusion peripheral neuropathy proteinuria renal cysts renal enlargement seizures skeletal changes, skeletal abnormalities strokelike episodes trichorrhexis nodosa