HYPOPHOSPHATASIA, ADULT ; ODONTOHYPOPHOSPHATASIA

Question 1

What is  HYPOPHOSPHATASIA, ADULT ; ODONTOHYPOPHOSPHATASIA?

Accepted Answer

rare
autosomal dominant
autosomal recessive
mutations in the tissue nonspecific ALP gene (TNSALP)
Hypophosphatasia may be present in infancy, childhood or adulthood:
- infantile type (MIM 241500)
- childhood type (MIM 241510)
- adult type (MIM 146300)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hypophosphatasie des Erwachsenen; Phosphoethanolaminurie, adulte; Rathburn-Krankheit, adulte

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 146300

Question 4

Which enzymes are involved?

Accepted Answer

Alkaline phosphatase, tissue-nonspecific isozyme

Disease	HYPOPHOSPHATASIA, ADULT ; ODONTOHYPOPHOSPHATASIA
Synonym	HYPOPHOSPHATASIA, MILD
OMIM	146300 OMIM = Online Mendelian Inheritance of Men
Orphanet	247676
Protein (UniProt)	Alkaline phosphatase, tissue-nonspecific isozyme
ExPASy	3.1.3.1
Gene locus	1p16.12
ICD	E83.8
Summary	rare autosomal dominant autosomal recessive mutations in the tissue nonspecific ALP gene (TNSALP) Hypophosphatasia may be present in infancy, childhood or adulthood: - infantile type (MIM 241500) - childhood type (MIM 241510) - adult type (MIM 146300)
Laboratory findings	Phosphatase, alkaline dec (serum) Phosphoethanolamine inc (urine) Pyridoxal-5-phosphate inc (serum)
Symptoms	dental caries no clinical symptoms (probably) onset, adolescent onset, childhood skeletal changes, skeletal abnormalities Teeth: generalized defect or abnormalities Teeth: premature loss of primary and/or secondary teeth