DK1-CDG

DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the <i>de novo</i> biosynthesis of dolichol phosphate. The mutations identified in the <i>DK1</i> gene led to a 96 to 98% reduction in DK activity.



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Narrow down the case reports



Total: 3 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(22.8%)		 24144945
(3909743)
 Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.
Lieu MT, Ng BG, Rush JS, Wood T, Basehore MJ, Hegde M, Chang RC, Abdenur JE, Freeze HH, Wang RY.
Mol Genet Metab. 2013;110(4):484-9.
Seizure Talipes equinovarus
DOLK TF
p|SUB|Q|483|K;RS#:727503904
Amino Acid Sequence Cardiomyopathy, Dilated Congenital Disorders of Glycosylation Dolichols Fatal Outcome Homo sapiens Homozygote Infant, Newborn Lipid Metabolism Male Mutation Phosphotransferases (Alcohol Group Acceptor)
2
(4.0%)		 23890587
 Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.
Helander A, Stodberg T, Jaeken J, Matthijs G, Eriksson M, Eggertsen G.
Mol Genet Metab. 2013;110(3):342-4.
Autism
DOLK PMM2
c|SUB|T|2|C;RS#:587777137 rs587777137
Child Congenital Disorders of Glycosylation Females Genotype Homo sapiens Infant Male Mutation Phosphotransferases (Alcohol Group Acceptor) Sibling Transferrin
2
(4.0%)		 22240719
 SRD5A3-CDG: a patient with a novel mutation.
Kasapkara CS, Tumer L, Ezgu FS, Hasanoglu A, Race V, Matthijs G, Jaeken J.
Eur J Paediatr Neurol. 2012;16(5):554-6.
Visual impairment
DHDDS SRD5A3
Cerebellar Ataxia Cerebellum Child, Preschool Congenital Disorders of Glycosylation Homo sapiens Homozygote Male Membrane Proteins Mutation Psychomotor Disorders Testosterone 5-alpha-Reductase
        

Phenotype(s) retrieved from Orphanet

    Total: 13

HPO ID Term Frequency
HP:0000958 Dry skin Very frequent (99-80%)
HP:0006709 Aplasia/Hypoplasia of the nipples Very frequent (99-80%)
HP:0008064 Ichthyosis Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)
HP:0100578 Lipoatrophy Very frequent (99-80%)
HP:0001744 Splenomegaly Frequent (79-30%)
HP:0001928 Abnormality of coagulation Frequent (79-30%)
HP:0002120 Cerebral cortical atrophy Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0003326 Myalgia Frequent (79-30%)
HP:0002612 Congenital hepatic fibrosis Occasional (29-5%)
HP:0002910 Elevated hepatic transaminase Occasional (29-5%)
HP:0009776 Adactyly Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
DOLK dolichol kinase 22845