ORPHA:457375
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
Also known as: Martsolf-like syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
16
33.9th percentile
Trials
0
Interventional, condition-specific
Researchers
218
Distinct authors in sample
Gene link
ITPA
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, neurometabolic disease characterized by early onset with microcephaly, severe global development delay, , , feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and cerebral atrophy. The disease is typically fatal.
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:0014719
- OMIM:616647
- UMLS:C4225256
Additional Mondo synonyms (5)
DEE35 · EIEE35 · developmental and epileptic encephalopathy 35 · epileptic encephalopathy, early infantile, 35 · epileptic encephalopathy, early infantile, type 35
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
Strong — ITPA
- LiteraturePresent
16 matched papers (16 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 (ITPA).
GenCC classification: Strong.
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?
16
16 papers have ever been indexed 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.
16 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).
16 in the last 10 years · high confidence · 33.9th percentile (publications denominator)
Phrase hits: 16 · MeSH hits: 0
Who's working on it?
218
Distinct author names in 16 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.
- 01Bhat V2 papers · 2024
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 02Burgis NE2 papers · 2024
Department of Chemistry, Biochemistry & Physics, Eastern Washington University, Cheney, WA, 99004, USA. nburgis@ewu.edu.
Papers in Europe PMC - 03Ciara E2 papers · 2026
Department of Medical Genetics, The Children’s Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland; (B.C.); (P.H.-W.); (P.S.); (D.J.); (D.P.-A.); (M.G.); (J.P.); (A.C.); (D.W.); (K.C.); (A.M.-P.)
Papers in Europe PMC - 04Girisha KM2 papers · 2024
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 05Pande S2 papers · 2026
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 06Piekutowska-Abramczuk D2 papers · 2026
Department of Medical Genetics, The Children’s Memorial Health Institute, Member of the European Reference Network ITHACA, 04-730 Warsaw, Poland; (B.C.); (P.H.-W.); (P.S.); (D.J.); (D.P.-A.); (M.G.); (J.P.); (A.C.); (D.W.); (K.C.); (A.M.-P.)
Papers in Europe PMC - 07Shukla A2 papers · 2024
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 08VanWormer K2 papers · 2024
Department of Chemistry, Biochemistry & Physics, Eastern Washington University, Cheney, WA, 99004, USA.
Papers in Europe PMC - 09Abolhassani N1 paper · 2020
Division of Neurofunctional Genomics, Department of Immunobiology and Neuroscience, Medical Institute of Bioregulation, and.
Papers in Europe PMC - 10Ahmad S1 paper · 2025
Molecular Biology & Genetics, Institute of Basic Medical Science, Khyber Medical University, Peshawar, Pakistan.
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. 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.
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.
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.
Recruiting or not-yet-recruiting
- NCT06092346·RECRUITING·A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Conditions: AMPD3, OMIM*102772, AMP Deaminase Deficiency · AK1, OMIM *103000, Adenylate Kinase Deficiency · AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency · TPMT, OMIM *187680, Thoipurines, Poor Metabolism of·Matched via name phrase
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.
"ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement" OR "Martsolf-like syndrome" OR "DEE35" OR "EIEE35" OR "developmental and epileptic encephalopathy 35" OR "epileptic encephalopathy, early infantile, 35" OR "epileptic encephalopathy, early infantile, type 35"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement" OR "Martsolf-like syndrome" OR "DEE35" OR "EIEE35" OR "developmental and epileptic encephalopathy 35" OR "epileptic encephalopathy, early infantile, 35" OR "epileptic encephalopathy, early infantile, type 35" OR "ITPA"
Recall-expansion terms: ITPA
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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T16:51:05.208Z