MCID: ALK019
MIFTS: 18

Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1

Categories: Genetic diseases

Aliases & Classifications for Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus...

MalaCards integrated aliases for Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1:

Name: Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1 56
Alkaline Phosphatase, Elevated Serum 56 54
Hyperphosphatasemia, Benign Familial 56
Alpqtl1 56

Characteristics:

OMIM:

56
Inheritance:
? autosomal dominant


HPO:

31
alkaline phosphatase, plasma level of, quantitative trait locus 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 171720
MedGen 41 C1868387
SNOMED-CT via HPO 68 263681008

Summaries for Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus...

MalaCards based summary : Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1, also known as alkaline phosphatase, elevated serum, is related to parenteral nutrition-associated cholestasis and cholestasis. An important gene associated with Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1 is ALPQTL1 (Alkaline Phosphatase, Plasma Level Of, QTL1). Affiliated tissues include liver, bone and neutrophil, and related phenotype is elevated alkaline phosphatase.

More information from OMIM: 171720

Related Diseases for Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus...

Graphical network of the top 20 diseases related to Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1:



Diseases related to Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1

Symptoms & Phenotypes for Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus...

Human phenotypes related to Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1:

31
# Description HPO Frequency HPO Source Accession
1 elevated alkaline phosphatase 31 HP:0003155

Symptoms via clinical synopsis from OMIM:

56
Lab:
elevated serum alkaline phosphatase with no disease

Clinical features from OMIM:

171720

Drugs & Therapeutics for Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus...

Search Clinical Trials , NIH Clinical Center for Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1

Genetic Tests for Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus...

Anatomical Context for Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus...

MalaCards organs/tissues related to Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1:

40
Liver, Bone, Neutrophil

Publications for Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus...

Articles related to Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1:

(show all 29)
# Title Authors PMID Year
1
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. 56
22001757 2011
2
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. 56
18940312 2008
3
Benign familial hyperphosphatasemia. 56
2915457 1989
4
Inherited isolated hyperphosphatasemia. 56
6673484 1983
5
Raised serum alkaline phosphatase activity in one family. 56
7053722 1982
6
Inherited raised alkaline phosphatase activity in the absence of disease. 56
6113343 1981
7
Family with raised serum alkaline phosphatase activity in the absence of disease. 56
6784810 1981
8
Asymptomatic familial elevation of serum alkaline phosphatase levels. 56
7435471 1980
9
Inherited elevation of alkaline phosphatase activity in the absence of disease. 56
492229 1979
10
An update on AIDS-related cholangiopathy. 54
19212310 2009
11
Increased bone alkaline phosphatase and isolated subcortical bone uptake of technetium-99m hydroxymethylene diphosphonate in the lower extremities in a patient with Graves' disease: a distinctly unusual variant of Graves' acropachy. 54
19014329 2008
12
Therapy with zoledronic acid, 5 mg, for a patient with Paget disease of bone. 54
18753106 2008
13
Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defects. 54
17284635 2007
14
Systemic inflammatory mediators and bone homeostasis in intestinal failure. 61
17308255 2007
15
Acute laryngotracheobronchitis and associated transient hyperphosphatasemia: a new case of transient hyperphosphatasemia in early childhood. 54
16509919 2006
16
Oral retinoid therapy for disorders of keratinization: single-centre retrospective 25 years' experience on 23 patients. 54
16433796 2006
17
Bezafibrate treatment: a new medical approach for PBC patients? 54
12825134 2003
18
[Histopathological features of 27 cases of primary biliary cirrhosis]. 54
12392610 2002
19
Calvarial "doughnut lesions": clinical spectrum of the syndrome, report on a case, and review of the literature. 54
11241496 2001
20
Benign transient hyperphosphatasemia of infancy and childhood. 54
11142449 2000
21
[A clinical study on active vitamin D pulse therapy in hemodialysis patients with secondary hyperparathyroidism]. 54
10806572 2000
22
Extended right hepatic lobectomy with resection of inferior vena cava and portal vein for intrahepatic cholangiocarcinoma. 54
11180893 2000
23
Severe, diffuse osteosclerosis: A new manifestation of transitional cell carcinoma of the urinary bladder. 54
9817940 1998
24
Persistent non-familial asymptomatic hyperphosphatasemia: a report on three cases. 54
7780263 1995
25
[The development of serum alkaline phosphatase and gamma-glutamyl transpeptidase in early stages of primary biliary cirrhosis]. 54
7723166 1995
26
Prognostic factors in anal carcinoma. 54
8265098 1994
27
[A case of primary biliary cirrhosis with negative anti-mitochondrial antibody anteceded by rheumatoid arthritis]. 54
1559653 1992
28
[So-called Ph1-negative chronic myelogenous leukemia with a mosaic pattern of trisomy 8 and normal karyotypes--report of 2 cases]. 61
2769971 1989
29
Chronic neutrophilic leukemia. Report of two cases and review of the literature. 61
289288 1979

Variations for Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus...

Expression for Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus...

Search GEO for disease gene expression data for Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1.

Pathways for Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus...

GO Terms for Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus...

Sources for Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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