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HPPC
MCID: HYP596
MIFTS: 48

Hypophosphatasia, Childhood (HPPC)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
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Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Hypophosphatasia, Childhood

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MalaCards integrated aliases for Hypophosphatasia, Childhood:

Name: Hypophosphatasia, Childhood 57 73 12 53 38
Childhood Hypophosphatasia 11 19 28 5 14 71
Childhood-Onset Hypophosphatasia 19 58 16
Childhood-Onset Phosphoethanolaminuria 19 58
Hppc 57 73
Childhood-Onset Rathburn Disease 19
Childhood-Onset Rathbun Disease 58

Characteristics:


Inheritance:

Hypophosphatasia, Childhood: Autosomal recessive 57
Childhood-Onset Hypophosphatasia: Autosomal dominant,Autosomal recessive 58

Age Of Onset:

Childhood-Onset Hypophosphatasia: Childhood,Infancy 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
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

Disease Ontology 11 DOID:0110915
OMIM® 57 241510
MeSH 43 D007014
ICD10 via Orphanet 32 E83.3
UMLS via Orphanet 72 C0220743
Orphanet 58 ORPHA247667
MedGen 40 C0220743
UMLS 71 C0220743
Sources

Summaries for Hypophosphatasia, Childhood

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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.
Sources

Related Diseases for Hypophosphatasia, Childhood

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 hypophosphatasia 31.1 SOST PHOSPHO1 ENPP1 ALPL
2 hypophosphatasia, adult 30.8 PHOSPHO1 ENPP1 ALPL
3 osteomalacia 29.6 SOST ENPP1 ALPL
4 bone disease 29.5 SOST COL1A1 ALPL
5 endosteal hyperostosis, autosomal dominant 29.2 SOST COL1A1
6 hypophosphatasia, infantile 10.2
7 rickets 10.1
8 periarthritis 10.1 PHOSPHO1 ALPL
9 hypercementosis 10.1 ENPP1 ALPL
10 calcification of joints and arteries 10.1 ENPP1 ALPL
11 chondrocalcinosis 10.1 ENPP1 ALPL
12 primary bone dysplasia 10.1 COL1A1 ALPL
13 osteogenesis imperfecta, type ii 10.0 COL1A1 ALPL
14 muscular dystrophy, duchenne type 10.0
15 focal segmental glomerulosclerosis 10.0
16 muscular dystrophy 10.0
17 arterial calcification of infancy 10.0 PHOSPHO1 ENPP1 ALPL
18 cleidocranial dysplasia 1 9.9 COL1A1 ALPL
19 pectus excavatum 9.9
20 chronic recurrent multifocal osteomyelitis 9.9
21 scoliosis 9.9
22 osteomyelitis 9.9
23 craniosynostosis 9.9
24 myopathy 9.9
25 intracranial hypertension 9.9
26 diffuse idiopathic skeletal hyperostosis 9.8 SOST ENPP1
27 spondyloarthropathy 9.8 SOST MRAP
28 osteogenesis imperfecta, type vii 9.8 SOST COL1A1
29 osteogenesis imperfecta, type vi 9.8 SOST COL1A1
30 van buchem disease 9.8 SOST COL1A1
31 mineral metabolism disease 9.8 SOST ENPP1
32 osteogenesis imperfecta, type i 9.8 SOST COL1A1
33 sclerosteosis 9.7 SOST COL1A1
34 enthesopathy 9.7 SOST ENPP1 ALPL
35 phosphorus metabolism disease 9.7 SOST ENPP1 ALPL
36 hypophosphatemic rickets, x-linked dominant 9.7 SOST ENPP1 ALPL
37 hypophosphatemia 9.7 SOST ENPP1
38 osteogenesis imperfecta, type iv 9.7 SOST COL1A1
39 osteoporosis, juvenile 9.7 SOST COL1A1 ALPL
40 bone development disease 9.7 SOST COL1A1 ALPL
41 hyperostosis 9.7 SOST COL1A1 ALPL
42 bone remodeling disease 9.6 SOST COL1A1 ALPL
43 chronic kidney disease 9.6 SOST ENPP1 ALPL
44 ankylosis 9.5 SOST PHOSPHO1 ENPP1 ALPL
45 craniometaphyseal dysplasia, autosomal dominant 9.5 SOST PHOSPHO1 ENPP1 ALPL
46 primary hyperparathyroidism 9.5 SOST COL1A1
47 brittle bone disorder 9.5 SOST ENPP1 COL1A1 ALPL
48 osteoporosis 9.5 SOST ENPP1 COL1A1 ALPL
49 osteochondrodysplasia 9.4 SOST ENPP1 COL1A1 ALPL

Graphical network of the top 20 diseases related to Hypophosphatasia, Childhood:



Diseases related to Hypophosphatasia, Childhood
Sources

Symptoms & Phenotypes for Hypophosphatasia, Childhood

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Human phenotypes related to Hypophosphatasia, Childhood:

30 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 HP:0001250
2 frontal bossing 30 HP:0002007
3 carious teeth 30 HP:0000670
4 short stature 30 HP:0004322
5 myopathy 30 HP:0003198
6 waddling gait 30 HP:0002515
7 dolichocephaly 30 HP:0000268
8 proptosis 30 HP:0000520
9 skin dimple over apex of long bone angulation 30 HP:0001024
10 craniosynostosis 30 HP:0001363
11 premature loss of primary teeth 30 HP:0006323
12 bowing of the legs 30 HP:0002979
13 low alkaline phosphatase 30 HP:0003282
14 rachitic rosary 30 HP:0000897
15 phosphoethanolaminuria 30 HP:0003239
16 elevated urine pyrophosphate 30 HP:0003491
17 elevated plasma pyrophosphate 30 HP:0011864

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Face:
frontal bossing

Neurologic Central Nervous System:
myopathy
seizures

Head And Neck Eyes:
proptosis

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

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

Skeletal:
rachitic skeletal changes

Growth Height:
short stature

Head And Neck Head:
dolichocephaly
craniostenosis

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

Chest Ribs Sternum Clavicles And Scapulae:
rachitic rosary

Skeletal Limbs:
bowed legs
characteristic metaphyseal radiolucency

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
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.55 ALPL COL1A1 ENPP1 PHOSPHO1 SOST
2 behavior/neurological MP:0005386 9.5 ALPL BCL7B COL1A1 ENPP1 MRAP NSMF
3 skeleton MP:0005390 9.1 ALPL COL1A1 ENPP1 MRAP PHOSPHO1 SOST
Sources

Drugs & Therapeutics for Hypophosphatasia, Childhood

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Hypophosphatasia, Childhood

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Genetic Tests for Hypophosphatasia, Childhood

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Genetic tests related to Hypophosphatasia, Childhood:

# Genetic test Affiliating Genes
1 Childhood Hypophosphatasia 28 ALPL
Sources

Anatomical Context for Hypophosphatasia, Childhood

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Organs/tissues related to Hypophosphatasia, Childhood:

MalaCards : Bone, Skin, Placenta, Bone Marrow, Smooth Muscle, Endothelial, Liver
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Publications for Hypophosphatasia, Childhood

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Articles related to Hypophosphatasia, Childhood:

(show top 50) (show all 98)
# Title Authors PMID Year
1
A molecular approach to dominance in hypophosphatasia. 57 5
11479741 2001
2
Characterization of a family with dominant hypophosphatasia. 57 5
10872988 2000
3
Correlations of genotype and phenotype in hypophosphatasia. 57 5
10332035 1999
4
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. 57 5
1409720 1992
5
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. 62 5
19335222 2009
6
Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa. 57
33814268 2021
7
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia. 5
32160374 2020
8
Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice. 5
29159075 2018
9
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia. 5
28763161 2017
10
Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth. 5
28580391 2016
11
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. 5
25731960 2015
12
Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. 5
24569605 2014
13
Enzyme-replacement therapy in life-threatening hypophosphatasia. 5
22397652 2012
14
Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review). 5
21713987 2011
15
Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia. 5
20739387 2010
16
Genetic etiology and dental pulp cell deficiency of hypophosphatasia. 5
20924064 2010
17
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. 5
19500388 2009
18
Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. 5
18559907 2008
19
A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. 5
18340466 2008
20
A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. 5
17922851 2008
21
Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia. 5
17719863 2007
22
Adult hypophosphatasia treated with teriparatide. 5
17213282 2007
23
Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene. 5
12920074 2003
24
Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients. 5
12357339 2002
25
Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. 5
11760847 2001
26
Mild autosomal dominant hypophosphatasia: in utero presentation in two families. 5
10508980 1999
27
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online. 5
10094560 1999
28
Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia. 5
8675582 1996
29
Hypophosphatasia. 57
13410963 1957
30
Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene. 53 62
15671102 2005
31
G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family. 53 62
12638946 2002
32
Bone metabolism and bone mineral density in childhood hypophosphatasia. 53 62
10495141 1999
33
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. 53 62
9781036 1998
34
In situ growth of CoNi bimetallic alloys inside polyetheretherketone-derived hierarchical porous carbon as a broadband and efficient electromagnetic wave absorber. 62
36326158 2022
35
Reprogramming of Hypophosphatasia patient cells to generate a new human iPSC cell line (UOMi009-A). 62
36152425 2022
36
Novel Therapeutic Agents for Rare Diseases of Calcium and Phosphate Metabolism. 62
36049757 2022
37
Mechanism of hyperproteinemia-induced blood cell homeostasis imbalance in an animal model. 62
35312240 2022
38
Sub-brow skin excision Combined with retro-orbicularis fat resection: A Technique for upper eyelid bulkiness and laxity correction. 62
34949571 2022
39
Lithium-ion battery aging dataset based on electric vehicle real-driving profiles. 62
35252504 2022
40
Screening for hypophosphatasia: does biochemistry lead the way? 62
34551461 2022
41
Using Admission Karnofsky Performance Status as a Guide for Palliative Care Discharge Needs. 62
33524302 2021
42
Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials. 62
32983894 2020
43
Structure activity relationship exploration of 5-hydroxy-2-(3-phenylpropyl)chromones as a unique 5-HT2B receptor antagonist scaffold. 62
32853682 2020
44
Hypoxia-Preconditioned Placenta-Derived Mesenchymal Stem Cells Rescue Optic Nerve Axons Via Differential Roles of Vascular Endothelial Growth Factor in an Optic Nerve Compression Animal Model. 62
32524519 2020
45
Hyperbranched poly(β-amino ester) based polyplex nanopaticles for delivery of CRISPR/Cas9 system and treatment of HPV infection associated cervical cancer. 62
32114092 2020
46
Self-Renewal Capability of Hepatocytic Parental Progenitor Cells Derived From Adult Rat Liver Is Maintained Long Term When Cultured on Laminin 111 in Serum-Free Medium. 62
31909353 2020
47
Selective and effective separation of five condensed arenes from a high-temperature coal tar by extraction combined with high pressure preparative chromatography. 62
31272732 2019
48
Biowaste-based porous carbon for supercapacitor: The influence of preparation processes on structure and performance. 62
30316114 2019
49
Reappearance of hypomineralized bone after discontinuation of asfotase alfa treatment for severe childhood hypophosphatasia. 62
29967930 2018
50
Childhood hypophosphatasia: to treat or not to treat. 62
30012160 2018
Sources

Variations for Hypophosphatasia, Childhood

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ClinVar genetic disease variations for Hypophosphatasia, Childhood:

5 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALPL NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) SNV Pathogenic
 13677 rs121918013 GRCh37: 1:21889651-21889651
GRCh38: 1:21563158-21563158
2 ALPL NM_000478.6(ALPL):c.485G>T (p.Gly162Val) SNV Pathogenic
 13676 rs121918012 GRCh37: 1:21890546-21890546
GRCh38: 1:21564053-21564053
3 ALPL NM_000478.6(ALPL):c.746G>T (p.Gly249Val) SNV Pathogenic
 13682 rs121918018 GRCh37: 1:21894694-21894694
GRCh38: 1:21568201-21568201
4 ALPL NM_000478.6(ALPL):c.1479C>A (p.Asn493Lys) SNV Pathogenic
 1327508 GRCh37: 1:21904045-21904045
GRCh38: 1:21577552-21577552
5 ALPL NM_000478.6(ALPL):c.814C>T (p.Arg272Cys) SNV Pathogenic
 13684 rs121918020 GRCh37: 1:21896819-21896819
GRCh38: 1:21570326-21570326
6 ALPL NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) INDEL Pathogenic
 188877 rs786204530 GRCh37: 1:21889705-21889706
GRCh38: 1:21563212-21563213
7 ALPL NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) SNV Pathogenic
 551446 rs1413274209 GRCh37: 1:21904037-21904037
GRCh38: 1:21577544-21577544
8 ALPL NM_000478.6(ALPL):c.1182dup (p.Ile395fs) DUP Pathogenic
 632629 rs754826836 GRCh37: 1:21902409-21902410
GRCh38: 1:21575916-21575917
9 ALPL NM_000478.6(ALPL):c.1172G>A (p.Arg391His) SNV Pathogenic
 550626 rs1442918125 GRCh37: 1:21902400-21902400
GRCh38: 1:21575907-21575907
10 ALPL NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) SNV Pathogenic
 13664 rs121918002 GRCh37: 1:21900176-21900176
GRCh38: 1:21573683-21573683
11 ALPL NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) SNV Pathogenic
Likely Pathogenic
 13683 rs121918019 GRCh37: 1:21890587-21890587
GRCh38: 1:21564094-21564094
12 ALPL NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) SNV Pathogenic
Likely Pathogenic
 550442 rs371243939 GRCh37: 1:21902399-21902399
GRCh38: 1:21575906-21575906
13 ALPL NM_000478.6(ALPL):c.1171del (p.Arg391fs) DEL Pathogenic
 632628 rs751404811 GRCh37: 1:21902394-21902394
GRCh38: 1:21575901-21575901
14 ALPL NM_000478.6(ALPL):c.997+1G>T SNV Pathogenic
 853798 rs1292415045 GRCh37: 1:21900293-21900293
GRCh38: 1:21573800-21573800
15 ALPL NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) SNV Pathogenic
Pathogenic
 13670 rs121918007 GRCh37: 1:21890632-21890632
GRCh38: 1:21564139-21564139
16 ALPL NM_000478.6(ALPL):c.407G>A (p.Arg136His) SNV Pathogenic
 13675 rs121918011 GRCh37: 1:21889712-21889712
GRCh38: 1:21563219-21563219
17 ALPL NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) SNV Pathogenic
 13672 rs121918009 GRCh37: 1:21902229-21902229
GRCh38: 1:21575736-21575736
18 ALPL NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) SNV Pathogenic
Pathogenic
 13671 rs121918008 GRCh37: 1:21902361-21902361
GRCh38: 1:21575868-21575868
19 ALPL NM_000478.6(ALPL):c.1460C>T (p.Ala487Val) SNV Pathogenic
 556895 rs1229517379 GRCh37: 1:21904026-21904026
GRCh38: 1:21577533-21577533
20 ALPL NM_000478.6(ALPL):c.406C>T (p.Arg136Cys) SNV Likely Pathogenic
 964572 rs747762186 GRCh37: 1:21889711-21889711
GRCh38: 1:21563218-21563218
21 ALPL NM_000478.6(ALPL):c.799del (p.His267fs) DEL Likely Pathogenic
 1723967 GRCh37: 1:21896802-21896802
GRCh38: 1:21570309-21570309
22 ALPL NM_000478.6(ALPL):c.434_437del (p.Asn145fs) DEL Likely Pathogenic
 1725911 GRCh37: 1:21889737-21889740
GRCh38: 1:21563244-21563247
23 ALPL NM_000478.6(ALPL):c.1051G>T (p.Glu351Ter) SNV Likely Pathogenic
 1725008 GRCh37: 1:21902279-21902279
GRCh38: 1:21575786-21575786
24 ALPL NM_000478.6(ALPL):c.567_568del (p.Asp189fs) DEL Likely Pathogenic
 1725271 GRCh37: 1:21890627-21890628
GRCh38: 1:21564134-21564135
25 ALPL NM_000478.6(ALPL):c.907_908insCACG (p.Asn303fs) INSERT Likely Pathogenic
 1725345 GRCh37: 1:21900202-21900203
GRCh38: 1:21573709-21573710
26 ALPL NM_000478.6(ALPL):c.394del (p.Ala132fs) DEL Likely Pathogenic
 1725441 GRCh37: 1:21889699-21889699
GRCh38: 1:21563206-21563206
27 ALPL NM_000478.6(ALPL):c.581_582del (p.Pro194fs) DEL Likely Pathogenic
 1724538 GRCh37: 1:21890642-21890643
GRCh38: 1:21564149-21564150
28 ALPL NM_000478.6(ALPL):c.750_751del (p.Asp251fs) DEL Likely Pathogenic
 1724770 GRCh37: 1:21894698-21894699
GRCh38: 1:21568205-21568206
29 ALPL NM_000478.6(ALPL):c.716_719delinsTAATGT (p.Asp239fs) INDEL Likely Pathogenic
 1726767 GRCh37: 1:21894664-21894667
GRCh38: 1:21568171-21568174
30 ALPL NM_000478.6(ALPL):c.511del (p.His171fs) DEL Likely Pathogenic
 1726895 GRCh37: 1:21890571-21890571
GRCh38: 1:21564078-21564078
31 ALPL NM_000478.6(ALPL):c.283G>A (p.Val95Met) SNV Likely Pathogenic
Likely Pathogenic
 427763 rs139811782 GRCh37: 1:21887691-21887691
GRCh38: 1:21561198-21561198
32 ALPL NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) SNV Likely Pathogenic
 371400 rs149889416 GRCh37: 1:21903929-21903929
GRCh38: 1:21577436-21577436
33 ALPL NM_000478.6(ALPL):c.1328C>T (p.Ala443Val) SNV Likely Pathogenic
 1030812 rs768053120 GRCh37: 1:21903894-21903894
GRCh38: 1:21577401-21577401
34 ALPL NM_000478.6(ALPL):c.109C>T (p.Leu37=) SNV Uncertain Significance
 876666 rs1205971311 GRCh37: 1:21887166-21887166
GRCh38: 1:21560673-21560673
35 ALPL NM_000478.6(ALPL):c.98C>T (p.Ala33Val) SNV Uncertain Significance
 13667 rs121918005 GRCh37: 1:21887155-21887155
GRCh38: 1:21560662-21560662
36 ALPL NM_000478.6(ALPL):c.547G>A (p.Asp183Asn) SNV Uncertain Significance
 1334158 GRCh37: 1:21890608-21890608
GRCh38: 1:21564115-21564115
37 ALPL NM_000478.6(ALPL):c.582T>C (p.Pro194=) SNV Likely Benign
 1115861 GRCh37: 1:21890643-21890643
GRCh38: 1:21564150-21564150
38 ALPL NM_000478.6(ALPL):c.862+20G>T SNV Benign
 256233 rs2275377 GRCh37: 1:21896887-21896887
GRCh38: 1:21570394-21570394
39 ALPL NM_000478.6(ALPL):c.863-12C>G SNV Benign
 256234 rs75829132 GRCh37: 1:21900146-21900146
GRCh38: 1:21573653-21573653
40 ALPL NM_000478.6(ALPL):c.863-7T>C SNV Benign
 256237 rs74063111 GRCh37: 1:21900151-21900151
GRCh38: 1:21573658-21573658
41 ALPL NM_000478.6(ALPL):c.330T>C (p.Ser110=) SNV Benign
 197678 rs1780316 GRCh37: 1:21889635-21889635
GRCh38: 1:21563142-21563142
42 ALPL NM_000478.6(ALPL):c.792+76T>C SNV Benign
 1177588 GRCh37: 1:21894816-21894816
GRCh38: 1:21568323-21568323
43 ALPL NM_000478.6(ALPL):c.793-31C>T SNV Benign
 256232 rs1256328 GRCh37: 1:21896767-21896767
GRCh38: 1:21570274-21570274
44 ALPL NM_000478.6(ALPL):c.862+51G>A SNV Benign
 1177589 GRCh37: 1:21896918-21896918
GRCh38: 1:21570425-21570425
45 ALPL NM_000478.6(ALPL):c.862+58C>T SNV Benign
 1177590 GRCh37: 1:21896925-21896925
GRCh38: 1:21570432-21570432
46 ALPL NM_000478.6(ALPL):c.863-46G>A SNV Benign
 256236 rs74063110 GRCh37: 1:21900112-21900112
GRCh38: 1:21573619-21573619
47 ALPL NM_000478.6(ALPL):c.1190-65C>A SNV Benign
 1177605 GRCh37: 1:21902950-21902950
GRCh38: 1:21576457-21576457
48 ALPL NM_000478.6(ALPL):c.1309+46C>T SNV Benign
 256227 rs4654760 GRCh37: 1:21903180-21903180
GRCh38: 1:21576687-21576687
49 ALPL NM_000478.6(ALPL):c.298-97C>T SNV Benign
 1177624 GRCh37: 1:21889506-21889506
GRCh38: 1:21563013-21563013
50 ALPL NM_000478.6(ALPL):c.473-70A>G SNV Benign
 1177630 GRCh37: 1:21890464-21890464
GRCh38: 1:21563971-21563971

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

73
# 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 rs1237252052
6 ALPL p.Arg391His VAR_025934 rs1442918125

Sources

Expression for Hypophosphatasia, Childhood

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

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Pathways related to Hypophosphatasia, Childhood according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Netrin-UNC5B signaling pathway 74
10.87 COL1A1 ALPL
2
OSX and miRNAs in tooth development 74
10.47 SOST ALPL
Sources

GO Terms for Hypophosphatasia, Childhood

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Cellular components related to Hypophosphatasia, Childhood according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular membrane-bounded organelle GO:0065010 8.8 PHOSPHO1 ALPL

Biological processes related to Hypophosphatasia, Childhood according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 bone mineralization GO:0030282 9.63 PHOSPHO1 ENPP1 ALPL
2 regulation of bone mineralization GO:0030500 9.62 PHOSPHO1 ENPP1
3 phosphate ion homeostasis GO:0055062 9.56 ENPP1 ALPL
4 biomineral tissue development GO:0031214 9.37 ENPP1 ALPL
5 endochondral ossification GO:0001958 9.1 PHOSPHO1 COL1A1 ALPL
6 obsolete biomineralization GO:0110148 8.96 ENPP1 ALPL

Molecular functions related to Hypophosphatasia, Childhood according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatase activity GO:0016791 9.55 PHOSPHO1 ENPP1 ALPL
2 pyrophosphatase activity GO:0016462 9.26 PHOSPHO1 ALPL
3 phosphoethanolamine phosphatase activity GO:0052732 8.92 PHOSPHO1 ALPL
Sources

Sources for Hypophosphatasia, Childhood

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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