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IEMbase 0779: ABCC6-related generalized arterial calcification of infancy type 2

Scope

Field Value
IEMbase ID 779
Nosology 16.3.11.01
Nosology code IEM0036
Gene ABCC6
External IDs OMIM:614473; ORPHA:51608
Generated mapping AMBIGUOUS; Arterial_Calcification_of_Infancy and subtype ABCC6-related
Candidate DisMech targets Arterial_Calcification_of_Infancy.yaml subtype ABCC6-related
Review date 2026-07-08

IEMbase phenotype signal

IEMbase labels this autosomal recessive record as ABCC6-related generalized arterial calcification of infancy type 2, abbreviation GACI2. The source signal includes arterial calcification, renal artery calcification, calcification of cardiac valve rings and aorta, hypertension, cardiac failure, coronary artery disease, myocardial infarction, early death, joint calcifications, and optional childhood/adolescent rickets and nephrocalcinosis.

DisMech phenotype coverage

Arterial_Calcification_of_Infancy.yaml is the correct local target. It has an explicit ABCC6-related subtype, describes biallelic ABCC6 variants as a smaller fraction of GACI, and models ENPP1/ABCC6 disruption of extracellular pyrophosphate anti-mineralization, arterial calcification and stenosis, hypertension, and congestive heart failure. The local genetic section includes ABCC6 as the causal gene for the ABCC6-related subtype.

Concordance and completeness

Judgement: exact subtype coverage; generated ambiguity reflects disease-level and subtype-level matches.

The gene, OMIM identity, recessive inheritance, GACI disease identity, and core arterial calcification/stenosis/cardiac-compromise phenotype are concordant. IEMbase is more granular for vascular territories and downstream consequences: renal artery calcification, cardiac valve/aortic ring calcification, coronary artery disease, myocardial infarction, and joint calcifications are not all separate local phenotype rows. IEMbase also lists rickets and nephrocalcinosis as optional ABCC6 rows; DisMech currently localizes the strong hypophosphatemic-rickets phenotype to the ENPP1-related subtype, with ABCC6 only a low-frequency context in cited natural-history evidence.

Curation actions

  • Treat Arterial_Calcification_of_Infancy.yaml subtype ABCC6-related as exact local coverage for IEMbase 0779.
  • Preserve the ABCC6-vs-ENPP1 subtype distinction; do not transfer the ENPP1-dominant rickets model to ABCC6 without evidence.
  • Consider future phenotype granularity for renal artery, coronary, myocardial infarction, valve/aortic-ring, joint calcification, nephrocalcinosis, and low-frequency ABCC6 rickets.