Rare diseases · Sign or symptom
Malabsorption
Intestinal malabsorption
HP:0002024
What it means
Impaired ability to absorb one or more nutrients from the intestine.
Rare diseases that can present with this82
Very common80–99%
22- Acrodermatitis enteropathica
- Alpha-heavy chain disease
- Chronic granulomatous disease
- Congenital bile acid synthesis defect type 1
- Congenital lethal erythroderma
- Congenital tufting enteropathy
- Cronkhite-Canada syndrome
- Cystic fibrosis
- Deafness-small bowel diverticulosis-neuropathy syndrome
- Dermatitis herpetiformis
- Enteric anendocrinosis
- Fabry disease
- Familial colorectal cancer Type X
- Hennekam syndrome
- Infantile systemic hyalinosis
- Johanson-Blizzard syndrome
- Lynch syndrome
- Mucopolysaccharidosis type 3
- Neuronal intestinal pseudoobstruction
- Oculogastrointestinal muscular dystrophy
- Progressive familial intrahepatic cholestasis
- Whipple disease
Common30–79%
27- AA amyloidosis
- Aggressive systemic mastocytosis
- AIDS wasting syndrome
- AL amyloidosis
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- Autosomal recessive hypophosphatemic rickets
- Baller-Gerold syndrome
- Cartilage-hair hypoplasia
- Chronic diarrhea due to glucoamylase deficiency
- Desmoid tumor
- Diffuse cutaneous systemic sclerosis
- Dyskeratosis congenita
- Eosinophilic gastroenteritis
- Hartnup disease
- Hypermobile Ehlers-Danlos syndrome
- ICF syndrome
- Menkes disease
- Mucopolysaccharidosis type 1
- Pellagra
- Refractory celiac disease
- Reticular dysgenesis
- Secondary intestinal lymphangiectasia
- Secondary short bowel syndrome
- Toxic epidermal necrolysis
- VIPoma
- X-linked lissencephaly with abnormal genitalia
- Zellweger syndrome
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.