ORPHA:369837
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Also known as: Congenital disorder of glycosylation due to PIGT deficiency · MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3 · PIGT-CDG
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
518
Trials
0
Interventional, condition-specific
Researchers
306
Distinct authors in sample
Gene link
PIGT
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of glycosylation characterized by , global development delay, developmental regress and severe to profound , onset that are initially associated with febrile episodes with subsequent transition to unprovoked , impaired vision with esotropia and nystagmus, cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial . Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.
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:0014165
- MeSH:C566367
- OMIM:603530
- OMIM:615398
- UMLS:C3809356
Additional Mondo synonyms (6)
LFSS · PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability · congenital disorder of glycosylation due to PIGT deficiency · multiple congenital anomalies-hypotonia-seizures syndrome 3 · multiple congenital anomalies-hypotonia-seizures syndrome type 3 · multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT
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.”
3/6 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 — PIGT
- LiteraturePresent
518 matched papers (365 in last 10 years) Source
- Phenotype characterisedPresent
125 HPO annotations (e.g. Short nose; Babinski sign; Delayed skeletal maturation) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (PIGT).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
125
Associated phenotypes · MONDO:0014165
- Short nose
- Babinski sign
- Delayed skeletal maturation
- Ankle clonus
- Deep philtrum
Showing 5 of 125 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
518
518 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
518 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
365 in the last 10 years · low confidence
Phrase hits: 34 · MeSH hits: 0
Who's working on it?
306
Distinct author names in 34 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.
- 01Kinoshita T5 papers · 2023
WPI Immunology Frontier Research Center and Research Institute for Microbial Diseases, Osaka University.
Papers in Europe PMC - 02Morava E5 papers · 2024
Department of Clinical Genomics, Laboratory of Medicine and Pathology, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, United States.
Papers in Europe PMC - 03Murakami Y4 papers · 2023
Research Institute for Microbial Diseases and World Premier International Immunology Frontier Research Center, Osaka University, Suita, Osaka 565-0871, Japan.
Papers in Europe PMC - 04Jezela-Stanek A3 papers · 2021
Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
Papers in Europe PMC - 05Knaus A3 papers · 2020
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany. Electronic address: knausa@uni-bonn.de.
Papers in Europe PMC - 06Lam C3 papers · 2024
Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
Papers in Europe PMC - 07Adams DR2 papers · 2016
NIH Undiagnosed Diseases Network, Common Fund, Office of the Director and the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Papers in Europe PMC - 08Bayat A2 papers · 2021
Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Papers in Europe PMC - 09Clement E2 papers · 2019
Department of Clinical Genetics, North East Thames RegionalGenetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
Papers in Europe PMC - 10Edmondson AC2 papers · 2024
Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome — check Associations / patient organisations on that page.
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.
("Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome" OR "Congenital disorder of glycosylation due to PIGT deficiency" OR "Congenital disorder of the glycosylation due to PIGT deficiency" OR "MCAHS type 3" OR "Multiple congenital anomalies-hypotonia-seizures syndrome type 3" OR "PIGT-CDG" OR "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability" OR "multiple congenital anomalies-hypotonia-seizures syndrome 3" OR "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT") OR (MESH:"Light Fixation Seizure Syndrome") OR ("PIGT" OR "PIGT syndrome" OR "PIGT-related")MeSH descriptor terms unioned into the query: Light Fixation Seizure Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome" OR "Congenital disorder of glycosylation due to PIGT deficiency" OR "Congenital disorder of the glycosylation due to PIGT deficiency" OR "MCAHS type 3" OR "Multiple congenital anomalies-hypotonia-seizures syndrome type 3" OR "PIGT-CDG" OR "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability" OR "multiple congenital anomalies-hypotonia-seizures syndrome 3" OR "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT" OR "Light Fixation Seizure Syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: LFSS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (518) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T14:48:21.059Z