HPPC
MCID: HYP596
MIFTS: 48
|
Hypophosphatasia, Childhood (HPPC)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
|
|
|
MalaCards integrated aliases for Hypophosphatasia, Childhood:
Characteristics:Inheritance:
Hypophosphatasia, Childhood:
Autosomal recessive 57
Childhood-Onset Hypophosphatasia:
Autosomal dominant,Autosomal recessive 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
waddling gait delayed onset of walking presentation after 6 months Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Oral diseases
ICD10:
32
Orphanet: 58
![]() ![]() ![]() |
GARD: 19 Childhood hypophosphatasia is a form of hypophosphatasia, a rare condition that affects the bones. Symptoms vary but may include delayed motor milestones; low bone mineral density for age; early loss of baby teeth (before age 5); bone and joint pain; short stature; a waddling gait; skeletal malformations; and/or unexplained broken bones. The forms of hypophosphatasia that develop during childhood are generally more mild than those that appear in infancy. Childhood hypophosphatasia is caused by changes in the ALPL gene and can be inherited in an autosomal dominant or autosomal recessive manner. MalaCards based summary: Hypophosphatasia, Childhood, also known as childhood hypophosphatasia, is related to hypophosphatasia and hypophosphatasia, adult, and has symptoms including waddling gait and seizures. An important gene associated with Hypophosphatasia, Childhood is ALPL (Alkaline Phosphatase, Biomineralization Associated), and among its related pathways/superpathways are Netrin-UNC5B signaling pathway and OSX and miRNAs in tooth development. Affiliated tissues include bone, skin and placenta, and related phenotypes are seizure and frontal bossing OMIM®: 57 Hypophosphatasia (HPP) is an inborn error of metabolism characterized clinically by defective bone mineralization and biochemically by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. Fraser (1957) classified forms of hypophosphatasia according to age of onset: perinatal (see 241500), infantile (241500), childhood, and adult (146300). Whyte (1988) indicated a fifth form of hypophosphatasia with primarily only dental manifestations, referred to as odontohypophosphatasia (see 241500). All of these forms are allelic. (241510) (Updated 08-Dec-2022) Orphanet: 58 A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait. UniProtKB/Swiss-Prot: 73 A bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Disease Ontology: 11 A hypophosphatasia that has material basis in an autosomal recessive mutation of ALPL on chromosome 1p36.12. |
Human phenotypes related to Hypophosphatasia, Childhood:30 (show all 17)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:241510 (Updated 08-Dec-2022)UMLS symptoms related to Hypophosphatasia, Childhood:waddling gait; seizures MGI Mouse Phenotypes related to Hypophosphatasia, Childhood:45
|
Interventional clinical trials:
|
Organs/tissues related to Hypophosphatasia, Childhood:
MalaCards :
Bone,
Skin,
Placenta,
Bone Marrow,
Smooth Muscle,
Endothelial,
Liver
|
Articles related to Hypophosphatasia, Childhood:(show top 50) (show all 98)
|
ClinVar genetic disease variations for Hypophosphatasia, Childhood:5 (show top 50) (show all 56)
UniProtKB/Swiss-Prot genetic disease variations for Hypophosphatasia, Childhood:73
|
Search
GEO
for disease gene expression data for Hypophosphatasia, Childhood.
|
Cellular components related to Hypophosphatasia, Childhood according to GeneCards Suite gene sharing:
Biological processes related to Hypophosphatasia, Childhood according to GeneCards Suite gene sharing:
Molecular functions related to Hypophosphatasia, Childhood according to GeneCards Suite gene sharing:
|
|