Rare diseases · Sign or symptom
Brain atrophy
Brain degeneration
HP:0012444
What it means
Partial or complete wasting (loss) of brain tissue that was once present.
Rare diseases that can present with this45
Very common80–99%
4Common30–79%
15- Aicardi-Goutières syndrome
- Allan-Herndon-Dudley syndrome
- Atypical juvenile parkinsonism
- Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
- CAMOS syndrome
- Cockayne syndrome type 3
- Hemiparkinsonism-hemiatrophy syndrome
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Infantile osteopetrosis with neuroaxonal dysplasia
- Methylcobalamin deficiency type cblE
- Paternal uniparental disomy of chromosome 1 syndrome
- Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- Severe X-linked intellectual disability, Gustavson type
- Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- Subacute sclerosing leukoencephalitis
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Brain wasting
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.