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ORPHA:91131

DK1-CDG

low confidenceDisorder

Also known as: CDG syndrome type Im · CDG-Im · CDG1M · Carbohydrate deficient glycoprotein syndrome type Im · Congenital disorder of glycosylation type 1m · Congenital disorder of glycosylation type Im · Dolichol kinase deficiency · Hypotonia and ichthyosis due to dolichol phosphate deficiency

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

5,099

Trials

0

Interventional, condition-specific

Researchers

1,399

Distinct authors in sample

Gene link

DOLK

Definitive

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

DK1-CDG is characterised by muscular and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated . The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an 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.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (6)

DK1-congenital disorder of glycosylation · carbohydrate deficient glycoprotein syndrome type Im · congenital disorder of glycosylation type 1m · congenital disorder of glycosylation type Im · dolichol kinase deficiency · hypotonia and ichthyosis due to dolichol phosphate deficiency

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — DOLK

  2. LiteraturePresent

    5,099 matched papers (2,855 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (DOLK).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

5,099

5,099 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

5,099 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

2,855 in the last 10 years · low confidence

Phrase hits: 5,099 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,399

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Zhang Y12 papers · 2026

    Department of Infectious Diseases, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.

    Papers in Europe PMC
  2. 02
    Li X8 papers · 2026

    School of Electronic and Information Engineering, Wuyi University, China.

    Papers in Europe PMC
  3. 03
    Li Y8 papers · 2026

    Department of Infectious Diseases, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.

    Papers in Europe PMC
  4. 04
    Li Z7 papers · 2026

    Department of Gastroenterology, Qilu Hospital of Shandong University, Jinan, China.

    Papers in Europe PMC
  5. 05
    Wang C7 papers · 2026

    Department of Epidemiology, State Key Laboratory Cultivation Base of Biomarkers for Cancer Precision Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, School of Public Health, Nanjing Medical University, Nanjing, China.

    Papers in Europe PMC
  6. 06
    Wang X6 papers · 2026

    Clinical Laboratory, The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, 410007, China.

    Papers in Europe PMC
  7. 07
    Wang Y6 papers · 2026

    Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China; Department of Neurosurgery, Fujian Medical University Union Hospital, Fuzhou, Fujian, China.

    Papers in Europe PMC
  8. 08
    Li J5 papers · 2026

    Pingshan County Hospital of Traditional Chinese Medicine, Yibin 645350, China.

    Papers in Europe PMC
  9. 09
    Liu J5 papers · 2026

    Department of Neurosurgery, Sichuan Clinical Research Center for Cancer, Sichuan Cancer Hospital & Institute, Sichuan Cancer Center, University of Electronic Science and Technology of China, Chengdu, China.

    Papers in Europe PMC
  10. 10
    Wang Q5 papers · 2026

    Computer Vision Institute, College of Computer Science and Software, Shenzhen University, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

low confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"DK1-CDG" OR "CDG syndrome type Im" OR "CDG-Im" OR "CDG1M" OR "Carbohydrate deficient glycoprotein syndrome type Im" OR "Congenital disorder of glycosylation type 1m" OR "Congenital disorder of the glycosylation type 1m" OR "Congenital disorder of glycosylation type Im" OR "Congenital disorder of the glycosylation type Im" OR "Dolichol kinase deficiency" OR "Hypotonia and ichthyosis due to dolichol phosphate deficiency" OR "DK1-congenital disorder of glycosylation" OR "DK1-congenital disorder of the glycosylation"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Congenital Disorder Of Glycosylation, Type Im

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"DK1-CDG" OR "CDG syndrome type Im" OR "CDG-Im" OR "CDG1M" OR "Carbohydrate deficient glycoprotein syndrome type Im" OR "Congenital disorder of glycosylation type 1m" OR "Congenital disorder of the glycosylation type 1m" OR "Congenital disorder of glycosylation type Im" OR "Congenital disorder of the glycosylation type Im" OR "Dolichol kinase deficiency" OR "Hypotonia and ichthyosis due to dolichol phosphate deficiency" OR "DK1-congenital disorder of glycosylation" OR "DK1-congenital disorder of the glycosylation" OR "Congenital Disorder Of Glycosylation, Type Im" OR "DOLK"

Recall-expansion terms: DOLK

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (5099) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T03:56:47.070Z