Neuroaxonal dystrophy renal tubular acidosis
diseaseOn this page
Also known as CNS disorder characterised by severe behavioural retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentrCNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentrMaccario Mena weir syndrome
Summary
Neuroaxonal dystrophy renal tubular acidosis (MONDO:0043075) is a disease. A subtype of renal tubular acidosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | neuroaxonal dystrophy renal tubular acidosis |
| Mondo ID | MONDO:0043075 |
| MeSH | C537386 |
| UMLS | C2931479 |
| MedGen | 419816 |
| GARD | 0000349 |
| Is cancer (heuristic) | no |
Also known as: CNS disorder characterised by severe behavioural retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr · CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr · Maccario Mena weir syndrome
Disease family
This is a subtype of renal tubular acidosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › disorder of acid-base balance › acidosis disorder › renal tubular acidosis › neuroaxonal dystrophy renal tubular acidosis
Related subtypes (4): proximal renal tubular acidosis, renal tubular acidosis 3, renal tubular acidosis, distal, 3, with or without sensorineural hearing loss, hyperkalemic renal tubular acidosis
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.