MCID: ALK019
MIFTS: 13

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 58
Alkaline Phosphatase, Elevated Serum 58 56
Hyperphosphatasemia, Benign Familial 58
Alpqtl1 58

Characteristics:

OMIM:

58
Inheritance:
? autosomal dominant


HPO:

33
alkaline phosphatase, plasma level of, quantitative trait locus 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 171720
MedGen 43 C1868387
SNOMED-CT via HPO 70 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 hepatic tuberculosis and obstructive jaundice. 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, and related phenotype is elevated alkaline phosphatase.

Description from OMIM: 171720

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

Diseases in the Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1 family:

Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 2 Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 3
Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 4

Diseases related to Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hepatic tuberculosis 9.7 ALPP GGT1
2 obstructive jaundice 9.7 ALPP GGT1
3 cholestasis 9.6 ALPP GGT1
4 liver disease 9.5 ALPP GGT1

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

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

33
# Description HPO Frequency HPO Source Accession
1 elevated alkaline phosphatase 33 HP:0003155

Symptoms via clinical synopsis from OMIM:

58
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:

42
Liver

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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