MCID: HYP596
MIFTS: 31

Hypophosphatasia, Childhood

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Hypophosphatasia, Childhood

MalaCards integrated aliases for Hypophosphatasia, Childhood:

Name: Hypophosphatasia, Childhood 54 13 52
Childhood Hypophosphatasia 12 50 29 14 69
Childhood-Onset Phosphoethanolaminuria 50 56
Childhood-Onset Hypophosphatasia 50 56
Childhood-Onset Rathburn Disease 50 56
Hypophosphatasia Childhood Type 71
Hopsc 71

Characteristics:

Orphanet epidemiological data:

56
childhood-onset hypophosphatasia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
waddling gait
delayed onset of walking
presentation after 6 months


HPO:

32
hypophosphatasia, childhood:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypophosphatasia, Childhood

NIH Rare Diseases : 50 childhood hypophosphatasia is a form of hypophosphatasia, a rare condition that affects the bones. childhood hypophosphatasia, specifically, is generally diagnosed when the condition develops after six months of age but before adulthood. signs and 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 (mutations) in the alpl gene and can be inherited in an autosomal dominant or autosomal recessive manner. treatment is supportive and based on the signs and symptoms present in each person. recently an enzyme replacement therapy (ert) called asfotase alfa has been show to improve bone symptoms in people with childhood hypophosphatasia and has been approved by the fda. last updated: 3/22/2016

MalaCards based summary : Hypophosphatasia, Childhood, also known as childhood hypophosphatasia, is related to hypophosphatasia and hypophosphatasia, infantile, and has symptoms including short stature, seizures and proptosis. An important gene associated with Hypophosphatasia, Childhood is ALPL (Alkaline Phosphatase, Liver/Bone/Kidney). Affiliated tissues include bone and skin.

UniProtKB/Swiss-Prot : 71 Hypophosphatasia childhood type: A bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase.

OMIM : 54
Hypophosphatasia 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)

Disease Ontology : 12 A hypophosphatasia that has material basis in an autosomal recessive mutation of ALPL on chromosome 1p36.12.

Related Diseases for Hypophosphatasia, Childhood

Diseases related to Hypophosphatasia, Childhood via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hypophosphatasia 11.4
2 hypophosphatasia, infantile 9.5 ALPL SPTA1
3 hypophosphatasia, adult 9.4 ALPL SPTA1
4 acute frontal sinusitis 9.2 ALPL SPTA1

Symptoms & Phenotypes for Hypophosphatasia, Childhood

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Eyes:
proptosis

Head And Neck- Teeth:
dental caries
premature deciduous tooth loss (less than five years of age)

Skeletal- Limbs:
bowed legs
characteristic metaphyseal radiolucency

Skin Nails & Hair- Skin:
skin dimple over apex of long bone angulation

Skeletal:
rachitic skeletal changes

Neurologic- Central Nervous System:
seizures
myopathy

Head And Neck- Face:
frontal bossing

Head And Neck- Head:
dolichocephaly
craniostenosis

Chest- Ribs Sternum Clavicles And Scapulae:
rachitic rosary

Laboratory- Abnormalities:
low alkaline phosphatase
phosphoethanolaminuria
elevated plasma and urine inorganic pyrophosphate (ppi)


Clinical features from OMIM:

241510

Human phenotypes related to Hypophosphatasia, Childhood:

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 seizures 32 HP:0001250
3 proptosis 32 HP:0000520
4 frontal bossing 32 HP:0002007
5 myopathy 32 HP:0003198
6 waddling gait 32 HP:0002515
7 craniosynostosis 32 HP:0001363
8 dolichocephaly 32 HP:0000268
9 carious teeth 32 HP:0000670
10 bowing of the legs 32 HP:0002979
11 rachitic rosary 32 HP:0000897
12 premature loss of primary teeth 32 HP:0006323
13 skin dimple over apex of long bone angulation 32 HP:0001024
14 low alkaline phosphatase 32 HP:0003282
15 phosphoethanolaminuria 32 HP:0003239
16 elevated urine pyrophosphate 32 HP:0003491
17 elevated plasma pyrophosphate 32 HP:0011864

UMLS symptoms related to Hypophosphatasia, Childhood:


seizures, waddling gait

Drugs & Therapeutics for Hypophosphatasia, Childhood

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
2 Characterisation of Adult-Onset Hypophosphatasia Not yet recruiting NCT02796885
3 Health Burden of Hypophosphatasia Not yet recruiting NCT02751801

Search NIH Clinical Center for Hypophosphatasia, Childhood

Genetic Tests for Hypophosphatasia, Childhood

Genetic tests related to Hypophosphatasia, Childhood:

id Genetic test Affiliating Genes
1 Childhood Hypophosphatasia 29

Anatomical Context for Hypophosphatasia, Childhood

MalaCards organs/tissues related to Hypophosphatasia, Childhood:

39
Bone, Skin

Publications for Hypophosphatasia, Childhood

Variations for Hypophosphatasia, Childhood

UniProtKB/Swiss-Prot genetic disease variations for Hypophosphatasia, Childhood:

71
id Symbol AA change Variation ID SNP ID
1 ALPL p.Ala177Thr VAR_006155 rs199669988
2 ALPL p.Arg223Trp VAR_013986 rs766076920
3 ALPL p.Thr68Met VAR_025907
4 ALPL p.Arg71Ser VAR_025908 rs121918001
5 ALPL p.Leu275Pro VAR_025923
6 ALPL p.Arg391His VAR_025934

ClinVar genetic disease variations for Hypophosphatasia, Childhood:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ALPL NM_000478.5(ALPL): c.881A> C (p.Asp294Ala) single nucleotide variant Pathogenic rs121918002 GRCh37 Chromosome 1, 21900176: 21900176
2 ALPL NM_000478.5(ALPL): c.571G> A (p.Glu191Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121918007 GRCh37 Chromosome 1, 21890632: 21890632
3 ALPL NM_000478.5(ALPL): c.407G> A (p.Arg136His) single nucleotide variant Pathogenic/Likely pathogenic rs121918011 GRCh37 Chromosome 1, 21889712: 21889712
4 ALPL NM_000478.5(ALPL): c.485G> T (p.Gly162Val) single nucleotide variant Pathogenic rs121918012 GRCh37 Chromosome 1, 21890546: 21890546
5 ALPL NM_000478.5(ALPL): c.346G> A (p.Ala116Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918013 GRCh37 Chromosome 1, 21889651: 21889651
6 ALPL NM_000478.5(ALPL): c.746G> T (p.Gly249Val) single nucleotide variant Pathogenic rs121918018 GRCh37 Chromosome 1, 21894694: 21894694
7 ALPL NM_000478.5(ALPL): c.526G> A (p.Ala176Thr) single nucleotide variant Pathogenic rs121918019 GRCh37 Chromosome 1, 21890587: 21890587
8 ALPL NM_000478.5(ALPL): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs121918020 GRCh37 Chromosome 1, 21896819: 21896819

Expression for Hypophosphatasia, Childhood

Search GEO for disease gene expression data for Hypophosphatasia, Childhood.

Pathways for Hypophosphatasia, Childhood

GO Terms for Hypophosphatasia, Childhood

Sources for Hypophosphatasia, Childhood

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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