ORPHA:79237
Galactokinase deficiency
Also known as: GALK deficiency · GALK deficiency galactosemia · Galactokinase deficiency galactosemia · Galactosemia type II · Type 2 galactosemia · Type II galactosemia · Galactosemia type 2
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
322
66.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,093
Distinct authors in sample
Gene link
GALK1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, although elevation of transaminases, bleeding diathesis and might be present in addition to cataract.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009255
- OMIM:230200
- UMLS:C0268155
- NCIT:C114767
Additional Mondo synonyms (5)
GALK-D · galactokinase deficiency · galactokinase deficiency galactosemia · galactokinase deficiency with cataracts · galactosemia type 2
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.
- Gene identifiedPresent
Definitive — GALK1
- LiteraturePresent
322 matched papers (99 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (GALK1).
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?
322
322 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
322 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).
99 in the last 10 years · medium confidence · 66.2th percentile (publications denominator)
Phrase hits: 322 · MeSH hits: 0
Who's working on it?
1,093
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.
- 01Timson DJ10 papers · 2021
School of Biological Sciences, Queen's University Belfast, Medical Biology Centre, 97 Lisburn Road, Belfast BT9 7BL, UK. Electronic address: d.timson@qub.ac.uk.
Papers in Europe PMC - 02Berry GT8 papers · 2021
Division of Biochemical Development & Molecular Diseases, Children's Hospital of Philadelphia, PA 19104, USA.
Papers in Europe PMC - 03Hejtmancik JF8 papers · 2017
Ophthalmic Genetics and Visual Function Branch National Eye Institute Rockville Maryland.
Papers in Europe PMC - 04Stambolian D8 papers · 2004
Department of Ophthalmology, Scheie Eye Institute, Philadelphia, Pennsylvania.
Papers in Europe PMC - 05Fridovich-Keil JL7 papers · 2017
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address: jfridov@emory.edu.
Papers in Europe PMC - 06Rubio-Gozalbo ME6 papers · 2024
Department of Pediatrics and Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands. estela.rubio@mumc.nl.
Papers in Europe PMC - 07Schulpis KH6 papers · 2005Papers in Europe PMC
- 08Shiels A6 papers · 2024
Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, MO 63110, USA. shiels@vision.wustl.edu
Papers in Europe PMC - 09Tsakiris S6 papers · 2005
Department of Experimental Physiology, University of Athens, Medical School, Athens, Greece. stsakir@cc.uoa.gr
Papers in Europe PMC - 10
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
medium 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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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 2026-07-26Likely covered — the policy lists Galactosemia as a category (Group 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 2 — long-term / lifelong lower-cost interventions
NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.
Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
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.
"Galactokinase deficiency" OR "GALK deficiency" OR "GALK deficiency galactosemia" OR "Galactokinase deficiency galactosemia" OR "Galactosemia type II" OR "Type 2 galactosemia" OR "Type II galactosemia" OR "Galactosemia type 2" OR "GALK-D" OR "galactokinase deficiency with cataracts"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Galactokinase deficiency" OR "GALK deficiency" OR "GALK deficiency galactosemia" OR "Galactokinase deficiency galactosemia" OR "Galactosemia type II" OR "Type 2 galactosemia" OR "Type II galactosemia" OR "Galactosemia type 2" OR "GALK-D" OR "galactokinase deficiency with cataracts" OR "GALK1"
Recall-expansion terms: GALK1
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, 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
Ingested 2026-07-27T02:06:40.612Z