IEMbase 0775: ADAR-related RNA-specific adenosine deaminase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 775 |
| Nosology | 16.3.07.01 |
| Nosology code | IEM0032 |
| Gene | ADAR |
| External IDs | OMIM:615010; ORPHA:41 |
| Generated mapping | AMBIGUOUS; Aicardi_Goutieres_Syndrome and subtype Aicardi-Goutieres syndrome 6 |
| Candidate DisMech targets | Aicardi_Goutieres_Syndrome.yaml subtype Aicardi-Goutieres syndrome 6 |
| Review date | 2026-07-08 |
IEMbase phenotype signal
IEMbase labels this autosomal recessive record as ADAR-related AGS6. The source signal includes cognitive dysfunction, seizures, feeding difficulty, hepatosplenomegaly, sterile pyrexia, chilblains, cerebral atrophy, intracerebral calcifications, leukodystrophy, microcephaly, dystonia, exaggerated startle, irritability, sleep disturbance, spasticity, and an ADAR-relevant bilateral striatal degeneration row. Laboratory rows include transaminases, CSF neopterin, CSF lymphocytes, autoantibodies, CSF interferon-alpha, and interferon-stimulated gene signature.
DisMech phenotype coverage
Aicardi_Goutieres_Syndrome.yaml includes an explicit Aicardi-Goutieres
syndrome 6 subtype with ADAR and MONDO:0014007. The shared local AGS phenotype
set covers the major neurologic, inflammatory, cutaneous, and imaging signal:
spasticity, developmental delay/regression, seizures, dystonia, microcephaly,
leukodystrophy, cerebral calcification, brain atrophy, chilblains, fevers,
hepatosplenomegaly, CSF lymphocytosis, increased CSF interferon-alpha, and
autoimmunity. The local mechanistic hypotheses specifically include ADAR1
RNA-editing and MDA5-dependent immune activation, and the dystonia phenotype
description notes ADAR-associated striatal necrosis.
Concordance and completeness
Judgement: exact subtype coverage; generated ambiguity reflects disease-level and subtype-level matches.
The disease identity, gene, OMIM, inheritance, and canonical AGS phenotype are concordant. IEMbase is useful for making the ADAR-specific striatal signal more visible: bilateral striatal degeneration is not a standalone local phenotype row even though ADAR-associated striatal necrosis is mentioned in the dystonia description and mechanism discussion.
Curation actions
- Treat
Aicardi_Goutieres_Syndrome.yamlsubtype Aicardi-Goutieres syndrome 6 as exact local coverage for IEMbase 0775. - Consider promoting ADAR-associated bilateral striatal degeneration/striatal necrosis to a discrete phenotype row if local evidence supports it.
- Preserve CSF neopterin, feeding difficulty, sleep disturbance, startle response, and optional cardiopulmonary/ocular rows as future prompts.