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ORPHA:308684

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

low confidenceSubtype of disorder

Also known as: Glycogenosis type 4, childhood combined hepatic and myopathic form · Glycogenosis type IV, childhood combined hepatic and myopathic form · GBE deficiency, childhood combined hepatic and myopathic form · GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form · GSD type 4, childhood combined hepatic and myopathic form · GSDIV, childhood combined hepatic and myopathic form · Glycogen storage disease type 4, childhood combined hepatic and myopathic form · Glycogen storage disease type IV, childhood combined hepatic and myopathic form · Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

Query health: suspect — Source fetch failed for trials.

Publications

0

Trials

—

Interventional, condition-specific

Researchers

0

Distinct authors in sample

Gene link

—

Readiness

0/6

Stages with a signal

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

glycogen storage disease type 4, childhood combined hepatic and myopathic form · glycogen storage disease type IV, childhood combined hepatic and myopathic form · glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form · glycogenosis type 4, childhood combined hepatic and myopathic form · glycogenosis type IV, childhood combined hepatic and myopathic form

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.”

0/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteratureNot found

    No matched Europe PMC hits under our query rules Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialNot checked

    Trial fetch failed or incomplete

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

0

We found no papers under this exact name — work may still exist under another label.

0 in the last 10 years · low confidence

Phrase hits: 0 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

0

Distinct author names in 0 sampled papers.

Who's working on it?

No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.

Clinical research

Is a treatment being tested?

—

interventional trials for this specific condition

We could not load trial data for this condition right now.

Data as of 27 July 2026

low confidence

Recruiting interventional trials

From the matched ClinicalTrials.gov set

Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.

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 2026-07-26

Likely covered — the policy lists Glycogen storage disease type IV as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. 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.

"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" OR "Glycogenosis type 4, childhood combined hepatic and myopathic form" OR "Glycogenosis type IV, childhood combined hepatic and myopathic form" OR "GBE deficiency, childhood combined hepatic and myopathic form" OR "GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" OR "GSD type 4, childhood combined hepatic and myopathic form" OR "GSDIV, childhood combined hepatic and myopathic form" OR "Glycogen storage disease type 4, childhood combined hepatic and myopathic form" OR "Glycogen storage disease type IV, childhood combined hepatic and myopathic form" OR "Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

(empty)

Recall-expansion terms: disorder of glycogen metabolism

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: none

Parent literature probe: disorder of glycogen metabolism (MONDO:0002412) — 117 hits

Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22Glycogen%20storage%20disease%20due%20to%20glycogen%20branching%20enzyme%20deficiency%2C%20childhood%20combined%20hepatic%20and%20myopathic%20form%22%20OR%20%22Glycogenosis%20type%204%2C%20childhood%20combined%20hepatic%20and%20myopathic%20form%22%20OR%20%22Glycogenosis%20type%20IV%2C%20childhood%20combined%20hepatic%20and%20myopathic%20form%22%20OR%20%22GBE%20deficiency%2C%20childhood%20combined%20hepatic%20and%20myopathic%20form%22%20OR%20%22GSD%20due%20to%20glycogen%20branching%20enzyme%20deficiency%2C%20childhood%20combined%20hepatic%20and%20myopathic%20form%22%20OR%20%22GSD%20type%204%2C%20childhood%20combined%20hepatic%20and%20myopathic%20form%22%20OR%20%22GSDIV%2C%20childhood%20combined%20hepatic%20and%20myopathic%20form%22%20OR%20%22Glycogen%20storage%20disease%20type%204%2C%20childhood%20combined%20hepatic%20and%20myopathic%20form%22%20OR%20%22Glycogen%20storage%20disease%20type%20IV%2C%20childhood%20combined%20hepatic%20and%20myopathic%20form%22%20OR%20%22Glycogenosis%20due%20to%20glycogen%20branching%20enzyme%20deficiency%2C%20childhood%20combined%20hepatic%20and%20myopathic%20form%22%20OR%20%22disorder%20of%20glycogen%20metabolism%22&format=json&pageSize=100&countTotal=true

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Zero publications but parent term disorder of glycogen metabolism has 117 — literature likely indexed under a broader name

Ingested 2026-07-27T12:53:20.503Z · excluded from neglect metrics