Rare diseases · Sign or symptom
Abnormality of metabolism/homeostasis
Laboratory abnormality
HP:0001939
Rare diseases that can present with this32
Very common80–99%
22- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Adult Refsum disease
- Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
- Atypical hemolytic uremic syndrome
- Autosomal recessive malignant osteopetrosis
- Bartter syndrome
- Calciphylaxis
- Carnitine palmitoyl transferase 1A deficiency
- Dimethylglycine dehydrogenase deficiency
- Hereditary angioedema type 1
- Hereditary hyperferritinemia-cataract syndrome
- Krabbe disease
- Laminin subunit alpha 2-related congenital muscular dystrophy
- Macular corneal dystrophy
- Microcephaly-brain defect-spasticity-hypernatremia syndrome
- Mitochondrial myopathy and sideroblastic anemia
- Multifocal infantile hemangioma with extracutenous involvement
- Neonatal adrenoleukodystrophy
- Peroxisomal acyl-CoA oxidase deficiency
- Sialuria
- Succinic semialdehyde dehydrogenase deficiency
- X-linked adrenoleukodystrophy
Common30–79%
4Sometimes5–29%
5The 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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Metabolism abnormality
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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.