MCID: ALK019
MIFTS: 14

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 57
Alkaline Phosphatase, Elevated Serum 57 55
Hyperphosphatasemia, Benign Familial 57
Alpqtl1 57

Characteristics:

OMIM:

57
Inheritance:
? autosomal dominant


Classifications:



External Ids:

OMIM 57 171720
MedGen 42 C1868387

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 9.8 ALPP GGT1
2 obstructive jaundice 9.8 ALPP GGT1
3 cholestasis 9.8 ALPP GGT1
4 primary biliary cirrhosis 9.8 ALPP GGT1
5 liver disease 9.7 ALPP GGT1

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...

Symptoms via clinical synopsis from OMIM:

57
Lab:
elevated serum alkaline phosphatase with no disease


Clinical features from OMIM:

171720

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

32
# Description HPO Frequency HPO Source Accession
1 elevated alkaline phosphatase 32 HP:0003155

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....