Rare diseases · Sign or symptom
Decreased circulating vitamin D concentration
Deficient in vitamin D
HP:0100512
What it means
The concentration of vitamin D in the blood circulation is below the lower limit of normal.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this19
Common30–79%
9- Abetalipoproteinemia
- Autosomal dominant hypophosphatemic rickets
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- Autosomal recessive polycystic kidney disease
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Oculocerebrorenal syndrome of Lowe
- Pancreatic triacylglycerol lipase deficiency
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Shwachman-Diamond syndrome
Sometimes5–29%
9- Autosomal dominant cutis laxa
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- Classic galactosemia
- Congenital erythropoietic porphyria
- Juvenile nephropathic cystinosis
- Lead poisoning
- Mucopolysaccharidosis type 3
- Primary intestinal lymphangiectasia
and 1 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
Also called: Low levels of vitamin D · Vitamin D deficiency
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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.