MCID: HYP292
MIFTS: 48

Hypophosphatasia, Infantile

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

Aliases & Classifications for Hypophosphatasia, Infantile

MalaCards integrated aliases for Hypophosphatasia, Infantile:

Name: Hypophosphatasia, Infantile 53 13 51
Infantile Hypophosphatasia 12 55 28 14 69
Phosphoethanolaminuria 53 12
Hops 53 12
Perinatal Lethal Phosphoethanolaminuria 55
Hypophosphatasia, Perinatal Lethal 69
Perinatal Lethal Hypophosphatasia 55
Perinatal Lethal Rathburn Disease 55
Infantile Phosphoethanolaminuria 55
Hypophosphatasia Infantile Type 71
Infantile Rathburn Disease 55
Hopsi 71

Characteristics:

Orphanet epidemiological data:

55
perinatal lethal hypophosphatasia
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;
infantile hypophosphatasia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

53
Miscellaneous:
fever of unknown origin
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

Inheritance:
autosomal recessive


HPO:

31
hypophosphatasia, infantile:
Mortality/Aging death in infancy stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypophosphatasia, Infantile

UniProtKB/Swiss-Prot : 71 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 and hypophosphatasia, adult, and has symptoms including constipation, fever and seizures. 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 Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone and skin.

OMIM : 53 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:

53
Abdomen Gastroin testinal:
constipation
vomiting
anorexia

Growth Other:
failure to thrive

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 RibsSternum 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

Neurologic Central Nervous System:
seizures
irritability
intracranial hemorrhage
hypotonia

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:

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

UMLS symptoms related to Hypophosphatasia, Infantile:


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

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 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 28 ALPL

Anatomical Context for Hypophosphatasia, Infantile

MalaCards organs/tissues related to Hypophosphatasia, Infantile:

38
Bone, Skin

Publications for Hypophosphatasia, Infantile

Articles related to Hypophosphatasia, Infantile:

(show all 49)
# Title Authors Year
1
Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report. ( 28802630 )
2017
2
A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia. ( 27777120 )
2017
3
[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis]. ( 28506345 )
2017
4
Successful Use of Enzyme Replacement Therapy in Infantile Hypophosphatasia. ( 28868782 )
2017
5
Perinatal and infantile hypophosphatasia: clinical features and treatment. ( 29405934 )
2017
6
Pyridoxine Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL gene. ( 27086862 )
2016
7
Bone mineralization-dependent craniosynostosis and craniofacial shape abnormalities in the mouse model of infantile hypophosphatasia. ( 26605996 )
2016
8
Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation. ( 27466191 )
2016
9
First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review. ( 27312557 )
2016
10
Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia. ( 26797772 )
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
Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization. ( 9152296 )
1997
28
Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia. ( 9056646 )
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
Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening. ( 2301398 )
1990
36
Infantile hypophosphatasia: autosomal recessive transmission to two related sibships. ( 2333903 )
1990
37
Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. ( 1689104 )
1990
38
Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia. ( 2079838 )
1990
39
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
40
Infantile hypophosphatasia--linkage with the RH locus. ( 3128473 )
1987
41
Infantile hypophosphatasia: enzymatic defect explored with alkaline phosphatase-deficient skin fibroblasts in culture. ( 3107777 )
1987
42
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
43
Normal activity of nucleoside triphosphate pyrophosphatase in alkaline phosphatase-deficient fibroblasts from patients with infantile hypophosphatasia. ( 3020080 )
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
Hyperparathyroidism and infantile hypophosphatasia: effect of prednisone and vitamin K therapy. ( 501490 )
1979
49
Skull scintigraphy in infantile hypophosphatasia. ( 536807 )
1979

Variations for Hypophosphatasia, Infantile

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

71
# 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 all 47)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALPL NM_000478.5(ALPL): c.535G> A (p.Ala179Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918000 GRCh37 Chromosome 1, 21890596: 21890596
2 ALPL NM_000478.5(ALPL): c.211C> T (p.Arg71Cys) single nucleotide variant Pathogenic rs121918001 GRCh37 Chromosome 1, 21887619: 21887619
3 ALPL NM_000478.5(ALPL): c.881A> C (p.Asp294Ala) single nucleotide variant Pathogenic rs121918002 GRCh37 Chromosome 1, 21900176: 21900176
4 ALPL NM_000478.5(ALPL): c.212G> C (p.Arg71Pro) single nucleotide variant Pathogenic rs121918003 GRCh37 Chromosome 1, 21887620: 21887620
5 ALPL NM_000478.5(ALPL): c.620A> C (p.Gln207Pro) single nucleotide variant Pathogenic rs121918004 GRCh37 Chromosome 1, 21890681: 21890681
6 ALPL NM_000478.5(ALPL): c.98C> T (p.Ala33Val) single nucleotide variant Pathogenic rs121918005 GRCh37 Chromosome 1, 21887155: 21887155
7 ALPL NM_000478.5(ALPL): c.1306T> C (p.Tyr436His) single nucleotide variant Pathogenic rs121918006 GRCh37 Chromosome 1, 21903131: 21903131
8 ALPL NM_000478.5(ALPL): c.892G> A (p.Glu298Lys) single nucleotide variant Pathogenic rs121918017 GRCh37 Chromosome 1, 21900187: 21900187
9 ALPL NM_000478.5(ALPL): c.571G> A (p.Glu191Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121918007 GRCh37 Chromosome 1, 21890632: 21890632
10 ALPL NM_000478.5(ALPL): c.1133A> T (p.Asp378Val) single nucleotide variant Pathogenic rs121918008 GRCh37 Chromosome 1, 21902361: 21902361
11 ALPL NM_000478.5(ALPL): c.1001G> A (p.Gly334Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121918009 GRCh37 Chromosome 1, 21902229: 21902229
12 ALPL NM_000478.5(ALPL): c.979T> C (p.Phe327Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121918010 GRCh37 Chromosome 1, 21900274: 21900274
13 ALPL NM_000478.5(ALPL): c.1559delT (p.Leu520Argfs) deletion Pathogenic rs387906525 GRCh37 Chromosome 1, 21904125: 21904125
14 ALPL NM_000478.5(ALPL): c.407G> A (p.Arg136His) single nucleotide variant Pathogenic/Likely pathogenic rs121918011 GRCh37 Chromosome 1, 21889712: 21889712
15 ALPL NM_000478.5(ALPL): c.346G> A (p.Ala116Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918013 GRCh37 Chromosome 1, 21889651: 21889651
16 ALPL NM_000478.5(ALPL): c.648+1G> A single nucleotide variant Pathogenic rs749544042 GRCh38 Chromosome 1, 21564217: 21564217
17 ALPL NM_000478.5(ALPL): c.1250A> G (p.Asn417Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121918014 GRCh37 Chromosome 1, 21903075: 21903075
18 ALPL NM_000478.5(ALPL): c.1366G> A (p.Gly456Arg) single nucleotide variant Pathogenic rs121918016 GRCh37 Chromosome 1, 21903932: 21903932
19 ALPL NM_000478.5(ALPL): c.526G> A (p.Ala176Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918019 GRCh37 Chromosome 1, 21890587: 21890587
20 ALPL NM_000478.5(ALPL): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs121918020 GRCh37 Chromosome 1, 21896819: 21896819
21 ALPL NM_000478.5(ALPL): c.215T> C (p.Ile72Thr) single nucleotide variant Likely pathogenic rs781264043 GRCh38 Chromosome 1, 21561130: 21561130
22 ALPL NM_000478.5(ALPL): c.400_401delACinsCA (p.Thr134His) indel Pathogenic/Likely pathogenic rs786204530 GRCh38 Chromosome 1, 21563212: 21563213
23 ALPL NM_000478.5(ALPL): c.542C> T (p.Ser181Leu) single nucleotide variant Likely pathogenic rs199590449 GRCh37 Chromosome 1, 21890603: 21890603
24 ALPL NM_000478.5(ALPL): c.667C> T (p.Arg223Trp) single nucleotide variant Likely pathogenic rs766076920 GRCh37 Chromosome 1, 21894615: 21894615
25 ALPL NM_000478.5(ALPL): c.791A> G (p.Lys264Arg) single nucleotide variant Likely pathogenic rs786204442 GRCh38 Chromosome 1, 21568246: 21568246
26 ALPL NM_000478.5(ALPL): c.809G> A (p.Trp270Ter) single nucleotide variant Likely pathogenic rs786204634 GRCh37 Chromosome 1, 21896814: 21896814
27 ALPL NM_000478.5(ALPL): c.871G> A (p.Glu291Lys) single nucleotide variant Likely pathogenic rs786204473 GRCh37 Chromosome 1, 21900166: 21900166
28 ALPL NM_000478.5(ALPL): c.891C> A (p.Tyr297Ter) single nucleotide variant Likely pathogenic rs755529290 GRCh37 Chromosome 1, 21900186: 21900186
29 ALPL NM_000478.5(ALPL): c.46_49delAACT (p.Asn16Profs) deletion Likely pathogenic rs1057516230 GRCh38 Chromosome 1, 21554127: 21554130
30 ALPL NM_000478.5(ALPL): c.61+2T> G single nucleotide variant Likely pathogenic rs764322898 GRCh37 Chromosome 1, 21880637: 21880637
31 ALPL NM_000478.5(ALPL): c.88C> T (p.Arg30Ter) single nucleotide variant Likely pathogenic rs1057516334 GRCh38 Chromosome 1, 21560652: 21560652
32 ALPL NM_000478.5(ALPL): c.114delA (p.Lys38Asnfs) deletion Likely pathogenic rs1057517321 GRCh38 Chromosome 1, 21560678: 21560678
33 ALPL NM_000478.5(ALPL): c.129delT (p.Gln44Argfs) deletion Likely pathogenic rs1057517122 GRCh37 Chromosome 1, 21887186: 21887186
34 ALPL NM_000478.5(ALPL): c.130C> T (p.Gln44Ter) single nucleotide variant Likely pathogenic rs1057516293 GRCh37 Chromosome 1, 21887187: 21887187
35 ALPL NM_000478.5(ALPL): c.297+2T> A single nucleotide variant Likely pathogenic rs1057517304 GRCh37 Chromosome 1, 21887707: 21887707
36 ALPL NM_000478.5(ALPL): c.522delC (p.Ser175Alafs) deletion Likely pathogenic rs1057516978 GRCh37 Chromosome 1, 21890583: 21890583
37 ALPL NM_000478.5(ALPL): c.662dupG (p.Gly222Trpfs) duplication Likely pathogenic rs1057516443 GRCh37 Chromosome 1, 21894610: 21894610
38 ALPL NM_000478.5(ALPL): c.841delC (p.His281Thrfs) deletion Likely pathogenic rs1057516526 GRCh38 Chromosome 1, 21570353: 21570353
39 ALPL NM_000478.5(ALPL): c.903delG (p.Asn302Thrfs) deletion Likely pathogenic rs1057516748 GRCh38 Chromosome 1, 21573705: 21573705
40 ALPL NM_000478.5(ALPL): c.928_929delTC (p.Ser310Argfs) deletion Likely pathogenic rs1057516702 GRCh38 Chromosome 1, 21573730: 21573731
41 ALPL NM_000478.5(ALPL): c.997+2T> G single nucleotide variant Pathogenic rs1057517391 GRCh37 Chromosome 1, 21900294: 21900294
42 ALPL NM_000478.5(ALPL): c.998-2A> G single nucleotide variant Likely pathogenic rs1057516622 GRCh38 Chromosome 1, 21575731: 21575731
43 ALPL NM_000478.5(ALPL): c.1088_1091dupGCAG (p.Ser364Argfs) duplication Likely pathogenic rs1057517322 GRCh37 Chromosome 1, 21902316: 21902319
44 ALPL NM_000478.5(ALPL): c.1144G> A (p.Val382Ile) single nucleotide variant Likely pathogenic rs771540767 GRCh37 Chromosome 1, 21902372: 21902372
45 ALPL NM_000478.5(ALPL): c.1363G> A (p.Gly455Ser) single nucleotide variant Likely pathogenic rs149889416 GRCh37 Chromosome 1, 21903929: 21903929
46 ALPL NM_000478.5(ALPL): c.1426G> T (p.Glu476Ter) single nucleotide variant Likely pathogenic rs1057517173 GRCh37 Chromosome 1, 21903992: 21903992
47 ALPL NM_000478.5(ALPL): c.1530_1549del20 (p.Leu512Profs) deletion Likely pathogenic rs1057517337 GRCh38 Chromosome 1, 21577603: 21577622

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 metabolic process GO:0008152 8.8 ALDH4A1 ALPL ALPP

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

# Name GO ID Score Top Affiliating Genes
1 phosphatase activity GO:0016791 8.96 ALPL ALPP
2 alkaline phosphatase activity GO:0004035 8.62 ALPL ALPP

Sources for Hypophosphatasia, Infantile

3 CDC
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10 dbSNP
11 DGIdb
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18 FMA
27 GO
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33 ICD10 via Orphanet
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36 KEGG
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42 MESH via Orphanet
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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