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IEMbase 0390: TRIP11-related Achondrogenesis type IA (CDG)

Scope

Field Value
IEMbase ID 390
Nosology 19.6.09.01
Gene TRIP11
External IDs OMIM:200600; ORPHA:93299
Generated mapping UNMAPPED; low candidate Achondrogenesis_Type_II.yaml
Candidate DisMech targets No exact local target
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents autosomal recessive TRIP11-related achondrogenesis type IA, also listed as Husron-Harris type and GMAP210-CDG. The cached record is sparse: clinical rows include achondrogenesis type IA, deficient ossification, micromelia, stillbirth, early death, and macrocephaly due to soft-tissue edema. The only biochemical row is serum sialotransferrins without a directionality signal. There are no treatment rows.

DisMech phenotype coverage

There is no exact local DisMech target for TRIP11/GMAP210-CDG. The generated candidate Achondrogenesis_Type_II.yaml is a phenotype-neighbor false positive. Local achondrogenesis type II models COL2A1/type II collagenopathy with autosomal dominant or de novo inheritance, not TRIP11/GMAP210-related Golgi trafficking disease.

The local ACG2 file contains a deep-research reference title for achondrogenesis type IA/Houston-Harris, but that is not curated disease coverage and does not establish a TRIP11 target.

Concordance and completeness

Judgement: true TRIP11 achondrogenesis IA local gap; reject ACG2 as an exact mapping.

The IEMbase and local candidate share lethal skeletal dysplasia features such as micromelia, deficient ossification, and perinatal lethality. They differ in gene, inheritance, mechanism, and disease identity.

Curation actions

  • Keep this record unmapped until a TRIP11/GMAP210-CDG or achondrogenesis IA target exists.
  • Do not map to Achondrogenesis_Type_II.yaml.
  • If curated, preserve the lethal skeletal dysplasia features, deficient ossification, soft-tissue edema/macrocephaly, stillbirth/early-death signal, autosomal recessive inheritance, and TRIP11/GMAP210 Golgi-trafficking frame.