MCID: HYP292
MIFTS: 49

Hypophosphatasia, Infantile

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

Aliases & Classifications for Hypophosphatasia, Infantile

MalaCards integrated aliases for Hypophosphatasia, Infantile:

Name: Hypophosphatasia, Infantile 57 13 55 40
Infantile Hypophosphatasia 12 59 29 6 15 73
Hypophosphatasia, Perinatal Lethal 6 73
Phosphoethanolaminuria 57 12
Hops 57 12
Perinatal Lethal Phosphoethanolaminuria 59
Perinatal Lethal Hypophosphatasia 59
Perinatal Lethal Rathburn Disease 59
Infantile Phosphoethanolaminuria 59
Hypophosphatasia Infantile Type 75
Infantile Rathburn Disease 59
Hopsi 75

Characteristics:

Orphanet epidemiological data:

59
perinatal lethal hypophosphatasia
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;
infantile hypophosphatasia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
stillborn or infantile death usual in prenatal form
four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form
death frequent in severe infantile form
severe infantile form presents before 6 months
fever of unknown origin


HPO:

32
hypophosphatasia, infantile:
Mortality/Aging death in infancy stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypophosphatasia, Infantile

UniProtKB/Swiss-Prot : 75 Hypophosphatasia infantile type: A severe bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Three more or less distinct types of infantile hypophosphatasia can be identified: (1) type 1 with onset in utero or in early postnatal life, craniostenosis, severe skeletal abnormalities, hypercalcemia, and death in the first year or so of life; (2) type 2 with later, more gradual development of symptoms, moderately severe 'rachitic' skeletal changes and premature loss of teeth; (3) type 3 with no symptoms, the condition being determined on routine studies.

MalaCards based summary : Hypophosphatasia, Infantile, also known as infantile hypophosphatasia, is related to hypophosphatasia, adult and hypophosphatasia, childhood, and has symptoms including apnea, constipation and fever of unknown origin. An important gene associated with Hypophosphatasia, Infantile is ALPL (Alkaline Phosphatase, Liver/Bone/Kidney), and among its related pathways/superpathways are NAD metabolism and Post-translational modification- synthesis of GPI-anchored proteins. The drugs Antibodies and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and kidney, and related phenotypes are seizures and muscular hypotonia

OMIM : 57 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, infantile, childhood (241510), and adult (146300). Whyte (1988) indicated a fifth form of hypophosphatasia with primarily only dental manifestations, referred to as odontohypophosphatasia (see 146300). All of these forms are allelic. (241500)

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

Related Diseases for Hypophosphatasia, Infantile

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



Diseases related to Hypophosphatasia, Infantile

Symptoms & Phenotypes for Hypophosphatasia, Infantile

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
irritability
intracranial hemorrhage
hypotonia

Abdomen Gastrointestinal:
constipation
vomiting
anorexia

Skeletal Spine:
platyspondyly
vertebral bodies often unossified
vertebral clefts

Laboratory Abnormalities:
hypercalciuria
hypercalcemia
phosphoethanolaminuria
elevated plasma and urine inorganic pyrophosphate (ppi)
decreased tissue and serum alkaline phosphatase
more
Genitourinary Kidneys:
nephrocalcinosis

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
rachitic rosary
small thoracic cage
rib fractures
clavicles least affected bone

Growth Height:
short limb dwarfism

Head And Neck Teeth:
poorly formed teeth

Voice:
high pitched cry

Prenatal Manifestations Delivery:
stillborn or infantile death usual in prenatal form

Growth Other:
failure to thrive

Respiratory:
recurrent respiratory infections
apnea

Skeletal Limbs:
micromelia
metaphyseal cupping
osteogenesis defect
bowed, short lower extremities
'spurs' in midshaft of ulna and fibula

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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

Skeletal:
fractures
lack of ossification
marked retardation of infantile form

Head And Neck Eyes:
blue sclera

Skeletal Skull:
poorly mineralized cranium
widened cranial sutures
craniosynostosis in infantile form

Hematology:
myelophthisic anemia


Clinical features from OMIM:

241500

Human phenotypes related to Hypophosphatasia, Infantile:

32 (show all 38)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 muscular hypotonia 32 HP:0001252
3 failure to thrive 32 HP:0001508
4 constipation 32 HP:0002019
5 recurrent respiratory infections 32 HP:0002205
6 abnormality of the dentition 32 HP:0000164
7 fever 32 HP:0001945
8 vomiting 32 HP:0002013
9 anemia 32 HP:0001903
10 irritability 32 HP:0000737
11 platyspondyly 32 HP:0000926
12 micromelia 32 HP:0002983
13 anorexia 32 HP:0002039
14 apnea 32 HP:0002104
15 hypercalciuria 32 HP:0002150
16 abnormality of the voice 32 HP:0001608
17 polyhydramnios 32 HP:0001561
18 nephrocalcinosis 32 HP:0000121
19 hypercalcemia 32 HP:0003072
20 intracranial hemorrhage 32 HP:0002170
21 disproportionate short-limb short stature 32 HP:0008873
22 skin dimple over apex of long bone angulation 32 HP:0001024
23 craniosynostosis 32 HP:0001363
24 blue sclerae 32 HP:0000592
25 decreased calvarial ossification 32 HP:0005474
26 short lower limbs 32 HP:0006385
27 generalized hypotonia 32 HP:0001290
28 increased susceptibility to fractures 32 HP:0002659
29 vertebral clefting 32 HP:0008428
30 bowing of the legs 32 HP:0002979
31 widely patent fontanelles and sutures 32 HP:0004492
32 short ribs 32 HP:0000773
33 metaphyseal cupping 32 HP:0003021
34 rachitic rosary 32 HP:0000897
35 unossified vertebral bodies 32 HP:0004606
36 phosphoethanolaminuria 32 HP:0003239
37 elevated urine pyrophosphate 32 HP:0003491
38 elevated plasma pyrophosphate 32 HP:0011864

UMLS symptoms related to Hypophosphatasia, Infantile:


apnea, constipation, fever of unknown origin, seizures, vomiting

Drugs & Therapeutics for Hypophosphatasia, Infantile

Drugs for Hypophosphatasia, Infantile (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 1, Phase 2
2 Immunoglobulin G Phase 1, Phase 2
3 Immunoglobulins Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy Study of Asfotase Alfa in Severely Affected Infants With Hypophosphatasia (HPP) Completed NCT00744042 Phase 1, Phase 2
2 A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP) Completed NCT01419028
3 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Hypophosphatasia, Infantile

Genetic Tests for Hypophosphatasia, Infantile

Genetic tests related to Hypophosphatasia, Infantile:

# Genetic test Affiliating Genes
1 Infantile Hypophosphatasia 29 ALPL

Anatomical Context for Hypophosphatasia, Infantile

MalaCards organs/tissues related to Hypophosphatasia, Infantile:

41
Bone, Skin, Kidney, Liver, Testes, Bone Marrow

Publications for Hypophosphatasia, Infantile

Articles related to Hypophosphatasia, Infantile:

(show all 49)
# Title Authors Year
1
Perinatal and infantile hypophosphatasia: clinical features and treatment. ( 29405934 )
2017
2
Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report. ( 28802630 )
2017
3
A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia. ( 27777120 )
2017
4
[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis]. ( 28506345 )
2017
5
Successful Use of Enzyme Replacement Therapy in Infantile Hypophosphatasia. ( 28868782 )
2017
6
Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation. ( 27466191 )
2016
7
Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia. ( 26797772 )
2016
8
Bone mineralization-dependent craniosynostosis and craniofacial shape abnormalities in the mouse model of infantile hypophosphatasia. ( 26605996 )
2016
9
Pyridoxine Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL gene. ( 27086862 )
2016
10
First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review. ( 27312557 )
2016
11
Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia. ( 26529632 )
2015
12
Postnatal Pancraniosynostosis in a Patient With Infantile Hypophosphatasia. ( 26171568 )
2015
13
Tissue-nonspecific alkaline phosphatase deficiency causes abnormal craniofacial bone development in the Alpl(-/-) mouse model of infantile hypophosphatasia. ( 25014884 )
2014
14
Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures. ( 23479201 )
2013
15
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures. ( 24100244 )
2013
16
Ex vivo gene therapy of severe infantile hypophosphatasia model mice using lentiviral transduced bone marrow cells. ( 24134992 )
2012
17
Rescue of severe infantile hypophosphatasia mice by AAV-mediated sustained expression of soluble alkaline phosphatase. ( 21388343 )
2011
18
Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain? ( 18523927 )
2009
19
Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. ( 17395561 )
2007
20
Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts. ( 17519318 )
2007
21
Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. ( 16769381 )
2006
22
Marrow cell transplantation for infantile hypophosphatasia. ( 12674323 )
2003
23
Infantile hypophosphatasia: disappointing results of treatment. ( 10914973 )
2000
24
Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene. ( 10834525 )
2000
25
Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. ( 10620060 )
1999
26
Infantile hypophosphatasia. ( 17277537 )
1999
27
Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia. ( 9056646 )
1997
28
Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization. ( 9152296 )
1997
29
First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family. ( 8809899 )
1996
30
Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations. ( 8606878 )
1995
31
[Molecular cloning of liver/bone/kidney-type alkaline phosphatase complementary and genomic DNA: analyses of its deficiency, infantile hypophosphatasia]. ( 8096553 )
1993
32
Carrier diagnosis by RFLP analysis in a family affected with infantile hypophosphatasia: case report. ( 1687418 )
1991
33
Computer assisted analysis of hand radiographs in infantile hypophosphatasia carriers. ( 2047163 )
1991
34
Prenatal diagnosis of infantile hypophosphatasia. ( 1680232 )
1991
35
Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. ( 1689104 )
1990
36
Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia. ( 2079838 )
1990
37
Infantile hypophosphatasia: autosomal recessive transmission to two related sibships. ( 2333903 )
1990
38
Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening. ( 2301398 )
1990
39
Infantile hypophosphatasia--linkage with the RH locus. ( 3128473 )
1987
40
Infantile hypophosphatasia fibroblasts proliferate normally in culture: evidence against a role for alkaline phosphatase (tissue nonspecific isoenzyme) in the regulation of cell growth and differentiation. ( 3103894 )
1987
41
Infantile hypophosphatasia: enzymatic defect explored with alkaline phosphatase-deficient skin fibroblasts in culture. ( 3107777 )
1987
42
Normal activity of nucleoside triphosphate pyrophosphatase in alkaline phosphatase-deficient fibroblasts from patients with infantile hypophosphatasia. ( 3020080 )
1986
43
Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase. ( 3944698 )
1986
44
Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients. ( 6502342 )
1984
45
Isoenzymes of alkaline phosphatase in infantile hypophosphatasia. ( 6854132 )
1983
46
Infantile hypophosphatasia diagnosed at 4 months and surviving at 2 years. ( 7085329 )
1982
47
Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease. ( 7108657 )
1982
48
Skull scintigraphy in infantile hypophosphatasia. ( 536807 )
1979
49
Hyperparathyroidism and infantile hypophosphatasia: effect of prednisone and vitamin K therapy. ( 501490 )
1979

Variations for Hypophosphatasia, Infantile

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

75
# Symbol AA change Variation ID SNP ID
1 ALPL p.Phe327Leu VAR_006165 rs121918010
2 ALPL p.Lys224Glu VAR_011084
3 ALPL p.Gly426Cys VAR_011089
4 ALPL p.Gly456Arg VAR_011091 rs121918016
5 ALPL p.Tyr28Cys VAR_013972
6 ALPL p.Val459Met VAR_013998 rs1054159992Hypophosphatasia
7 ALPL p.Glu298Lys VAR_025928 rs121918017

ClinVar genetic disease variations for Hypophosphatasia, Infantile:

6
(show top 50) (show all 96)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALPL NM_000478.5(ALPL): c.648+1G> A single nucleotide variant Pathogenic rs749544042 GRCh37 Chromosome 1, 21890710: 21890710
2 ALPL NM_000478.5(ALPL): c.535G> A (p.Ala179Thr) single nucleotide variant Likely pathogenic rs121918000 GRCh37 Chromosome 1, 21890596: 21890596
3 ALPL NM_000478.5(ALPL): c.535G> A (p.Ala179Thr) single nucleotide variant Likely pathogenic rs121918000 GRCh38 Chromosome 1, 21564103: 21564103
4 ALPL NM_000478.5(ALPL): c.211C> T (p.Arg71Cys) single nucleotide variant Pathogenic rs121918001 GRCh37 Chromosome 1, 21887619: 21887619
5 ALPL NM_000478.5(ALPL): c.211C> T (p.Arg71Cys) single nucleotide variant Pathogenic rs121918001 GRCh38 Chromosome 1, 21561126: 21561126
6 ALPL NM_000478.5(ALPL): c.881A> C (p.Asp294Ala) single nucleotide variant Pathogenic rs121918002 GRCh37 Chromosome 1, 21900176: 21900176
7 ALPL NM_000478.5(ALPL): c.881A> C (p.Asp294Ala) single nucleotide variant Pathogenic rs121918002 GRCh38 Chromosome 1, 21573683: 21573683
8 ALPL NM_000478.5(ALPL): c.212G> C (p.Arg71Pro) single nucleotide variant Pathogenic rs121918003 GRCh37 Chromosome 1, 21887620: 21887620
9 ALPL NM_000478.5(ALPL): c.212G> C (p.Arg71Pro) single nucleotide variant Pathogenic rs121918003 GRCh38 Chromosome 1, 21561127: 21561127
10 ALPL NM_000478.5(ALPL): c.620A> C (p.Gln207Pro) single nucleotide variant Pathogenic rs121918004 GRCh37 Chromosome 1, 21890681: 21890681
11 ALPL NM_000478.5(ALPL): c.1133A> T (p.Asp378Val) single nucleotide variant Pathogenic rs121918008 GRCh37 Chromosome 1, 21902361: 21902361
12 ALPL NM_000478.5(ALPL): c.1133A> T (p.Asp378Val) single nucleotide variant Pathogenic rs121918008 GRCh38 Chromosome 1, 21575868: 21575868
13 ALPL NM_000478.5(ALPL): c.1001G> A (p.Gly334Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121918009 GRCh37 Chromosome 1, 21902229: 21902229
14 ALPL NM_000478.5(ALPL): c.1001G> A (p.Gly334Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121918009 GRCh38 Chromosome 1, 21575736: 21575736
15 ALPL NM_000478.5(ALPL): c.620A> C (p.Gln207Pro) single nucleotide variant Pathogenic rs121918004 GRCh38 Chromosome 1, 21564188: 21564188
16 ALPL NM_000478.5(ALPL): c.98C> T (p.Ala33Val) single nucleotide variant Pathogenic rs121918005 GRCh37 Chromosome 1, 21887155: 21887155
17 ALPL NM_000478.5(ALPL): c.98C> T (p.Ala33Val) single nucleotide variant Pathogenic rs121918005 GRCh38 Chromosome 1, 21560662: 21560662
18 ALPL NM_000478.5(ALPL): c.1306T> C (p.Tyr436His) single nucleotide variant Pathogenic rs121918006 GRCh37 Chromosome 1, 21903131: 21903131
19 ALPL NM_000478.5(ALPL): c.1306T> C (p.Tyr436His) single nucleotide variant Pathogenic rs121918006 GRCh38 Chromosome 1, 21576638: 21576638
20 ALPL NM_000478.5(ALPL): c.892G> A (p.Glu298Lys) single nucleotide variant Pathogenic rs121918017 GRCh37 Chromosome 1, 21900187: 21900187
21 ALPL NM_000478.5(ALPL): c.892G> A (p.Glu298Lys) single nucleotide variant Pathogenic rs121918017 GRCh38 Chromosome 1, 21573694: 21573694
22 ALPL NM_000478.5(ALPL): c.571G> A (p.Glu191Lys) single nucleotide variant Pathogenic rs121918007 GRCh37 Chromosome 1, 21890632: 21890632
23 ALPL NM_000478.5(ALPL): c.571G> A (p.Glu191Lys) single nucleotide variant Pathogenic rs121918007 GRCh38 Chromosome 1, 21564139: 21564139
24 ALPL NM_000478.5(ALPL): c.979T> C (p.Phe327Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121918010 GRCh37 Chromosome 1, 21900274: 21900274
25 ALPL NM_000478.5(ALPL): c.979T> C (p.Phe327Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121918010 GRCh38 Chromosome 1, 21573781: 21573781
26 ALPL NM_000478.5(ALPL): c.1559delT (p.Leu520Argfs) deletion Pathogenic rs387906525 GRCh37 Chromosome 1, 21904125: 21904125
27 ALPL NM_000478.5(ALPL): c.1559delT (p.Leu520Argfs) deletion Pathogenic rs387906525 GRCh38 Chromosome 1, 21577632: 21577632
28 ALPL NM_000478.5(ALPL): c.407G> A (p.Arg136His) single nucleotide variant Pathogenic/Likely pathogenic rs121918011 GRCh37 Chromosome 1, 21889712: 21889712
29 ALPL NM_000478.5(ALPL): c.407G> A (p.Arg136His) single nucleotide variant Pathogenic/Likely pathogenic rs121918011 GRCh38 Chromosome 1, 21563219: 21563219
30 ALPL NM_000478.5(ALPL): c.346G> A (p.Ala116Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918013 GRCh37 Chromosome 1, 21889651: 21889651
31 ALPL NM_000478.5(ALPL): c.346G> A (p.Ala116Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918013 GRCh38 Chromosome 1, 21563158: 21563158
32 ALPL NM_000478.5(ALPL): c.648+1G> A single nucleotide variant Pathogenic rs749544042 GRCh38 Chromosome 1, 21564217: 21564217
33 ALPL NM_000478.5(ALPL): c.1250A> G (p.Asn417Ser) single nucleotide variant Likely pathogenic rs121918014 GRCh37 Chromosome 1, 21903075: 21903075
34 ALPL NM_000478.5(ALPL): c.1250A> G (p.Asn417Ser) single nucleotide variant Likely pathogenic rs121918014 GRCh38 Chromosome 1, 21576582: 21576582
35 ALPL NM_000478.5(ALPL): c.1366G> A (p.Gly456Arg) single nucleotide variant Pathogenic rs121918016 GRCh37 Chromosome 1, 21903932: 21903932
36 ALPL NM_000478.5(ALPL): c.1366G> A (p.Gly456Arg) single nucleotide variant Pathogenic rs121918016 GRCh38 Chromosome 1, 21577439: 21577439
37 ALPL NM_000478.5(ALPL): c.526G> A (p.Ala176Thr) single nucleotide variant Likely pathogenic rs121918019 GRCh37 Chromosome 1, 21890587: 21890587
38 ALPL NM_000478.5(ALPL): c.526G> A (p.Ala176Thr) single nucleotide variant Likely pathogenic rs121918019 GRCh38 Chromosome 1, 21564094: 21564094
39 ALPL NM_000478.5(ALPL): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs121918020 GRCh37 Chromosome 1, 21896819: 21896819
40 ALPL NM_000478.5(ALPL): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs121918020 GRCh38 Chromosome 1, 21570326: 21570326
41 ALPL NM_000478.5(ALPL): c.215T> C (p.Ile72Thr) single nucleotide variant Likely pathogenic rs781264043 GRCh38 Chromosome 1, 21561130: 21561130
42 ALPL NM_000478.5(ALPL): c.215T> C (p.Ile72Thr) single nucleotide variant Likely pathogenic rs781264043 GRCh37 Chromosome 1, 21887623: 21887623
43 ALPL NM_000478.5(ALPL): c.400_401delACinsCA (p.Thr134His) indel Pathogenic/Likely pathogenic rs786204530 GRCh38 Chromosome 1, 21563212: 21563213
44 ALPL NM_000478.5(ALPL): c.400_401delACinsCA (p.Thr134His) indel Pathogenic/Likely pathogenic rs786204530 GRCh37 Chromosome 1, 21889705: 21889706
45 ALPL NM_000478.5(ALPL): c.542C> T (p.Ser181Leu) single nucleotide variant Likely pathogenic rs199590449 GRCh38 Chromosome 1, 21564110: 21564110
46 ALPL NM_000478.5(ALPL): c.542C> T (p.Ser181Leu) single nucleotide variant Likely pathogenic rs199590449 GRCh37 Chromosome 1, 21890603: 21890603
47 ALPL NM_000478.5(ALPL): c.667C> T (p.Arg223Trp) single nucleotide variant Likely pathogenic rs766076920 GRCh37 Chromosome 1, 21894615: 21894615
48 ALPL NM_000478.5(ALPL): c.667C> T (p.Arg223Trp) single nucleotide variant Likely pathogenic rs766076920 GRCh38 Chromosome 1, 21568122: 21568122
49 ALPL NM_000478.5(ALPL): c.791A> G (p.Lys264Arg) single nucleotide variant Likely pathogenic rs786204442 GRCh38 Chromosome 1, 21568246: 21568246
50 ALPL NM_000478.5(ALPL): c.791A> G (p.Lys264Arg) single nucleotide variant Likely pathogenic rs786204442 GRCh37 Chromosome 1, 21894739: 21894739

Expression for Hypophosphatasia, Infantile

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

Pathways for Hypophosphatasia, Infantile

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.56 ALPL ALPP
2
Show member pathways
11.25 ALPL PIGV
3
Show member pathways
10.62 ALPL ALPP
4 10.16 ALPL ALPP
5
Show member pathways
9.66 ALPP PNPO

GO Terms for Hypophosphatasia, Infantile

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

# Name GO ID Score Top Affiliating Genes
1 anchored component of membrane GO:0031225 8.62 ALPL ALPP

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

# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 8.96 ALPL ALPP
2 actin filament organization GO:0007015 8.62 MYBPC1 SPTA1

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.16 MYBPC1 SPTA1
2 phosphatase activity GO:0016791 8.96 ALPL ALPP
3 alkaline phosphatase activity GO:0004035 8.62 ALPL ALPP

Sources for Hypophosphatasia, Infantile

3 CDC
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11 DGIdb
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64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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