ORPHA:300496
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Also known as: MCAHS type 2
Publications
83
59.2th percentile
Trials
1
Interventional, condition-specific
Researchers
829
Distinct authors in sample
Gene link
PIGA
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, lethal, neurometabolic syndrome characterized by multiple, variable, cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with , early-onset epileptic , and myoclonic . Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, ) are also observed.
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:0010466
- OMIM:300868
- UMLS:C3275508
Additional Mondo synonyms (11)
DEE20 · GPIBD4 · MCAHS2 · PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability · developmental and epileptic encephalopathy 20 · epileptic encephalopathy, early infantile, 20 · glycosylphosphatidylinositol biosynthesis defect 4 · multiple congenital anomalies-hypotonia-seizures syndrome 2 · multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive · multiple congenital anomalies-hypotonia-seizures syndrome type 2 · multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — PIGA
- LiteraturePresent
83 matched papers (67 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 trialPresent
1 matched on ClinicalTrials.gov
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 (PIGA).
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?
83
83 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.
83 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).
67 in the last 10 years · high confidence · 59.2th percentile (publications denominator)
Phrase hits: 83 · MeSH hits: 0
Who's working on it?
829
Distinct author names in 83 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Brodsky RA5 papers · 2017
Johns Hopkins Division of Hematology, Baltimore, MD, USA.
Papers in Europe PMC - 02Helbig I4 papers · 2022
Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany
Papers in Europe PMC - 03Jezela-Stanek A4 papers · 2021
Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
Papers in Europe PMC - 04Kinoshita T4 papers · 2016
Department of Immunoregulation, Research Institute for Microbial Diseases, and World Premier International Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan.
Papers in Europe PMC - 05Knaus A4 papers · 2024
Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin, 13353, Berlin, Germany.
Papers in Europe PMC - 06
- 07Berkovic SF3 papers · 2022
Epilepsy Research Centre, Department of Medicine, University of Melbourne (Austin Health), Heidelberg, VIC, Australia
Papers in Europe PMC - 08Chen X3 papers · 2026
Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, 300134, Tianjin, China.
Papers in Europe PMC - 09Francisco R3 papers · 2023
UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisboa, Portugal.
Papers in Europe PMC - 10Jaeken J3 papers · 2023
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
"Multiple congenital anomalies-hypotonia-seizures syndrome type 2" OR "MCAHS type 2" OR "DEE20" OR "GPIBD4" OR "MCAHS2" OR "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability" OR "developmental and epileptic encephalopathy 20" OR "epileptic encephalopathy, early infantile, 20" OR "glycosylphosphatidylinositol biosynthesis defect 4" OR "multiple congenital anomalies-hypotonia-seizures syndrome 2" OR "multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive" OR "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Multiple congenital anomalies-hypotonia-seizures syndrome type 2" OR "MCAHS type 2" OR "DEE20" OR "GPIBD4" OR "MCAHS2" OR "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability" OR "developmental and epileptic encephalopathy 20" OR "epileptic encephalopathy, early infantile, 20" OR "glycosylphosphatidylinositol biosynthesis defect 4" OR "multiple congenital anomalies-hypotonia-seizures syndrome 2" OR "multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive" OR "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA" OR "PIGA"
Recall-expansion terms: PIGA
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T12:40:51.814Z