Hypophosphatasia

rare

Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).

Identifiers: MONDO:0018570 Orphanet:436
Causal genes: ALPL
Part of: Developmental anomaly of metabolic origin Inborn errors of metabolism
Also known as: deficiency of alkaline phosphatase (disorder) [ambiguous] · HPP · phosphoethanol-aminuria · phosphoethanolaminuria · Rathburn disease

Subtypes

All diseases Rare only

Disease	ID	Subtypes
ALPL-related autosomal recessive hypophosphatasia	MONDO:0100609	2
ALPL-related autosomal dominant hypophosphatasia	MONDO:0100608	1
Childhood hypophosphatasia	MONDO:1010168
Infantile hypophosphatasia	MONDO:1010169
Moderate hypophosphatasia	MONDO:0600010
Odontohypophosphatasia	MONDO:0016607
Prenatal benign hypophosphatasia	MONDO:0700424

Rare disease

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