ORPHA:300313
Congenital cataract-hearing loss-severe developmental delay syndrome
Also known as: Congenital cataract-deafness-severe developmental delay syndrome · Huppke-Brendel syndrome · Lethal neurodegenerative disorder due to copper transport defect
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
30
40.6th percentile
Trials
0
Interventional, condition-specific
Researchers
237
Distinct authors in sample
Gene link
SLC33A1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
cataract-hearing loss-severe syndrome is a rare, genetic, lethal, neurometabolic disease characterized by cataracts, sensorineural hearing loss, severe psychomotor , severe, generalized muscular , and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and have also been reported.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013772
- OMIM:614482
- UMLS:C4751114
Additional Mondo synonyms (4)
acetyl CoA transporter deficiency · congenital cataract-deafness-severe developmental delay syndrome · congenital cataracts, hearing loss, and neurodegeneration · lethal neurodegenerative disorder due to copper transport defect
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 — SLC33A1
- LiteraturePresent
30 matched papers (25 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 (SLC33A1).
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?
30
30 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.
30 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).
25 in the last 10 years · high confidence · 40.6th percentile (publications denominator)
Phrase hits: 30 · MeSH hits: 0
Who's working on it?
237
Distinct author names in 30 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.
- 01Ferreira CR3 papers · 2022
Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA.
Papers in Europe PMC - 02Barić I2 papers · 2024
Department of Pediatrics University Hospital Center Zagreb Zagreb Croatia.
Papers in Europe PMC - 03Chiplunkar S2 papers · 2016
Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Papers in Europe PMC - 04Fumić K2 papers · 2024
Department of Laboratory Diagnostics University Hospital Centre Zagreb Zagreb Croatia.
Papers in Europe PMC - 05Govindaraj P2 papers · 2016
Neuromuscular Lab-Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Papers in Europe PMC - 06Kaler SG2 papers · 2014
Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA. Electronic address: kalers@mail.nih.gov.
Papers in Europe PMC - 07Litwin T2 papers · 2026
2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
Papers in Europe PMC - 08Nagappa M2 papers · 2016
Neuromuscular Lab-Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Papers in Europe PMC - 09Peters TMA2 papers · 2024
Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center Nijmegen The Netherlands.
Papers in Europe PMC - 10Šikić K2 papers · 2024
Department of Pediatrics University Hospital Center Zagreb Zagreb Croatia.
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.
high 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 2026-07-26This 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.
"Congenital cataract-hearing loss-severe developmental delay syndrome" OR "Congenital cataract-deafness-severe developmental delay syndrome" OR "Huppke-Brendel syndrome" OR "Lethal neurodegenerative disorder due to copper transport defect" OR "acetyl CoA transporter deficiency" OR "congenital cataracts, hearing loss, and neurodegeneration"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital cataract-hearing loss-severe developmental delay syndrome" OR "Congenital cataract-deafness-severe developmental delay syndrome" OR "Huppke-Brendel syndrome" OR "Lethal neurodegenerative disorder due to copper transport defect" OR "acetyl CoA transporter deficiency" OR "congenital cataracts, hearing loss, and neurodegeneration" OR "SLC33A1"
Recall-expansion terms: SLC33A1
Study-type breakdown: 0 interventional · 0 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T12:39:06.235Z