Rare diseases · Sign or symptom
Cachexia
Wasting syndrome
HP:0004326
What it means
Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
Rare diseases that can present with this62
Very common80–99%
30- 19q13.11microdeletion syndrome
- AREDYLD syndrome
- Autosomal dominant congenital benign spinal muscular atrophy
- Camurati-Engelmann disease
- Christianson syndrome
- Cockayne syndrome
- Cortical blindness-intellectual disability-polydactyly syndrome
- Deafness-small bowel diverticulosis-neuropathy syndrome
- Diencephalic syndrome
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- Fryns-Smeets-Thiry syndrome
- Laryngotracheoesophageal cleft type 4
- Lipodystrophy due to peptidic growth factors deficiency
- Majeed syndrome
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Mitochondrial neurogastrointestinal encephalomyopathy
- Mulibrey nanism
- Multicentric carpo-tarsal osteolysis with or without nephropathy
- Nijmegen breakage syndrome
- Oculogastrointestinal muscular dystrophy
- Pallister-Killian syndrome
- Pelizaeus-Merzbacher disease
- Proteus syndrome
- Renpenning syndrome
- Ring chromosome 10 syndrome
- Seckel syndrome
- Silver-Russell syndrome
- Trisomy 18 syndrome
- Whipple disease
- Xeroderma pigmentosum-Cockayne syndrome complex
Common30–79%
12- AIDS wasting syndrome
- Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
- Cronkhite-Canada syndrome
- Flynn-Aird syndrome
- Hypotonia-speech impairment-severe cognitive delay syndrome
- Juvenile polyposis of infancy
- McDonough syndrome
- Pellagra
- Tropical endomyocardial fibrosis
- Wolman disease
- X-linked creatine transporter deficiency
- X-linked intellectual disability, Cabezas type
Sometimes5–29%
18- Alexander disease type I
- Amyotrophic lateral sclerosis
- Bannayan-Riley-Ruvalcaba syndrome
- Congenital muscular dystrophy due to LMNA mutation
- Desmoplastic small round cell tumor
- Idiopathic bronchiectasis
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
- Infantile Krabbe disease
and 10 more in this range
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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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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.