Dk1-cdg

Description

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 de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

Clinical Features

Top most frequent phenotypes and symptoms related to Dk1-cdg

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Nystagmus
  • Failure to thrive
  • Strabismus
  • Muscle weakness
  • Muscular hypotonia

And another 55 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Dk1-cdg Is also known as cdg-im, cdg im, hypotonia and ichthyosis due to dolichol phosphate deficiency, cdg syndrome type im, congenital disorder of glycosylation type im, congenital disorder of glycosylation type 1m, cdgim, dk1 deficiency, cdg1m, carbohydrate deficient glycoprotein syndr.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Dk1-cdg Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Disorders of Glycosylation Panel.

By Baylor Miraca Genetics Laboratories (United States).

SLC35A1, ALG9, ALG1, ATP6V0A2, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DPAGT1, DPM1, DPM3, RFT1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
DOLK Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

DOLK
Specificity
100 %
Genes
100 %
DOLK Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

DOLK
Specificity
100 %
Genes
100 %
DOLK Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

DOLK
Specificity
100 %
Genes
100 %
DOLK Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

DOLK
Specificity
100 %
Genes
100 %
DOLK Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

DOLK
Specificity
100 %
Genes
100 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %

We have 59 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6 AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3 HYPOTRICHOSIS 1; HYPT1 CONGENITAL SHORT BOWEL SYNDROME; CSBS

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