HYPOPHOSPHATASIA, INFANTILE

Question 1

What is  HYPOPHOSPHATASIA, INFANTILE?

Accepted Answer

rare (1:100000)
autosomal recessive
loss-of-function mutation(s) of the ALPL (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; Phosphoethanolaminurie; Rathbun-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 241500

Question 4

Which enzymes are involved?

Accepted Answer

Alkaline phosphatase, tissue-nonspecific isozyme

Disease	HYPOPHOSPHATASIA, INFANTILE
Synonym	HYPOPHOSPHATASIA, INFANTILE ; HYPOPHOSPHATASIA, CHILDHOOD; HYPOPHOSPHATASIA, ADULT TYPE
OMIM	241500 OMIM = Online Mendelian Inheritance of Men
Orphanet	436
Protein (UniProt)	Alkaline phosphatase, tissue-nonspecific isozyme
ExPASy	3.1.3.1
Gene locus	1p36.12
ICD	E83.38
Summary	rare (1:100000) autosomal recessive loss-of-function mutation(s) of the ALPL (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) Calcium inc (urine) Calcium normal/inc (serum) Osteocalcin dec (serum) Phosphate dec (serum) Phosphoethanolamine inc (urine) Pyridoxal-5-phosphate inc (plasma)
Symptoms	anemia anorexia apnea bone fractures dental abnormalities failure to thrive fever high pitched cry hypotonia infections (severe or recurrent) irritability muscle weakness nephrocalcinosis onset, infancy pain, muscle pigmentation, skin and sclera polyhydramnion (maternal) rickets sclerae, blue or bluish screaming or crying, abnormal seizures Teeth: generalized defect or abnormalities Teeth: premature loss of primary and/or secondary teeth vomiting