MCID: MTL002
MIFTS: 30

Metal Metabolism Disorder

Categories: Metabolic diseases

Aliases & Classifications for Metal Metabolism Disorder

MalaCards integrated aliases for Metal Metabolism Disorder:

Name: Metal Metabolism Disorder 12 15 73
Metal Metabolism, Inborn Errors 44 73
Inborn Metal Metabolism Disorder 12

Classifications:



External Ids:

Disease Ontology 12 DOID:896
MeSH 44 D008664

Summaries for Metal Metabolism Disorder

Disease Ontology : 12 An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.

MalaCards based summary : Metal Metabolism Disorder, also known as metal metabolism, inborn errors, is related to hemochromatosis, type 1 and primary hypomagnesemia. An important gene associated with Metal Metabolism Disorder is HFE (Homeostatic Iron Regulator), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin receptor recycling. Related phenotypes are homeostasis/metabolism and growth/size/body region

Related Diseases for Metal Metabolism Disorder

Diseases related to Metal Metabolism Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 1 28.0 ATP7B CP HAMP HFE HJV SLC11A2
2 primary hypomagnesemia 10.9
3 iron overload in africa 10.8 HFE TF
4 hemochromatosis, type 3 10.7 HFE TFR2
5 hyperferritinemia with or without cataract 10.7 HFE TF
6 hemochromatosis, type 2a 10.7 HAMP HJV
7 hemochromatosis, type 4 10.6 SLC40A1 TFR2
8 swayback 10.5 CP HFE
9 periodic paralyses 10.5 CACNA1S SCN4A
10 folic acid deficiency anemia 10.4 TF TFRC
11 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.3 ATP7A ATP7B
12 hyperkalemic periodic paralysis 10.3 CACNA1S SCN4A
13 menkes disease 10.2 ATP7A ATP7B CP
14 familial periodic paralysis 10.2 CACNA1S SCN4A
15 immune system disease 10.2 HAMP TF TFRC
16 thalassemia 10.2 HFE TF TFRC
17 graves disease 1 10.2 CACNA1S SCN4A
18 ancylostomiasis 10.1 CP TF
19 osteitis fibrosa 10.0 GNAS PTH
20 porphyria cutanea tarda 10.0 HAMP HFE TF TFRC
21 hypochromic microcytic anemia 10.0 CP SLC11A2 TF
22 nutritional deficiency disease 10.0 HAMP HJV TF TFRC
23 siderosis 10.0 HFE SLC40A1 TF TFRC
24 hfe-associated hereditary hemochromatosis 9.9 HFE HJV SLC11A2 TFR2
25 microcytic anemia 9.9 SLC11A2 TF TFRC
26 hemochromatosis type 2 9.9 HAMP HFE HJV SLC40A1 TFR2
27 wilson disease 9.8 ATP7A ATP7B CP HFE TF
28 beta-thalassemia 9.8 HAMP HFE TF TFR2 TFRC
29 pseudopseudohypoparathyroidism 9.7 GNAS PTH STX16
30 phosphorus metabolism disease 9.7 GNAS PTH STX16
31 pseudohypoparathyroidism, type ib 9.7 GNAS PTH STX16
32 pseudohypoparathyroidism 9.7 GNAS PTH STX16
33 hyperphosphatemia 9.7 GNAS PTH STX16
34 albright's hereditary osteodystrophy 9.6 GNAS STX16
35 aceruloplasminemia 9.5 CP HAMP HFE HJV TF TFR2
36 inherited metabolic disorder 9.4 ATP7B GNAS HAMP HFE HJV TF
37 restless legs syndrome 9.3 PTH SLC11A2 TFRC
38 hemosiderosis 8.6 CP HAMP HFE SLC11A2 SLC40A1 TF
39 iron deficiency anemia 8.5 HAMP HFE HJV SLC11A2 SLC40A1 TF
40 iron metabolism disease 8.3 CP HFE HJV SLC11A2 SLC40A1 TF
41 atransferrinemia 8.0 CP HAMP HFE HJV SLC11A2 SLC40A1
42 deficiency anemia 8.0 CP HAMP HFE HJV SLC11A2 SLC40A1

Graphical network of the top 20 diseases related to Metal Metabolism Disorder:



Diseases related to Metal Metabolism Disorder

Symptoms & Phenotypes for Metal Metabolism Disorder

MGI Mouse Phenotypes related to Metal Metabolism Disorder:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 TF TFR2 TFRC CACNA1S HFE ATP7A
2 growth/size/body region MP:0005378 10.3 TF TFR2 TFRC GNAS ATP7B CACNA1S
3 cardiovascular system MP:0005385 10.24 TFRC GNAS CACNA1S ATP7A CP PTH
4 cellular MP:0005384 10.22 TFRC GNAS ATP7B CACNA1S ATP7A CP
5 behavior/neurological MP:0005386 10.21 STX16 GNAS ATP7B CACNA1S CP ATP7A
6 hematopoietic system MP:0005397 10.17 TFRC TF TFR2 GNAS ATP7B HFE
7 immune system MP:0005387 10.11 TFRC TFR2 GNAS ATP7B HFE ATP7A
8 integument MP:0010771 9.92 TFRC GNAS ATP7B CACNA1S ATP7A SLC40A1
9 liver/biliary system MP:0005370 9.9 TFR2 TFRC ATP7B HFE ATP7A CP
10 mortality/aging MP:0010768 9.77 TFRC TF GNAS ATP7B CACNA1S HFE
11 limbs/digits/tail MP:0005371 9.73 GNAS CACNA1S ATP7A PTH SLC40A1 HFE
12 nervous system MP:0003631 9.32 TFRC GNAS ATP7B CACNA1S CP ATP7A

Drugs & Therapeutics for Metal Metabolism Disorder

Search Clinical Trials , NIH Clinical Center for Metal Metabolism Disorder

Cochrane evidence based reviews: metal metabolism, inborn errors

Genetic Tests for Metal Metabolism Disorder

Anatomical Context for Metal Metabolism Disorder

Publications for Metal Metabolism Disorder

Variations for Metal Metabolism Disorder

Expression for Metal Metabolism Disorder

Search GEO for disease gene expression data for Metal Metabolism Disorder.

Pathways for Metal Metabolism Disorder

Pathways related to Metal Metabolism Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 ATP7A ATP7B CP GNAS SLC11A2 SLC39A4
2
Show member pathways
12.24 CP GNAS SLC11A2 SLC40A1 TF TFRC
3
Show member pathways
11.69 CP SLC11A2 SLC39A4 SLC40A1
4 11.45 CP TF TFRC
5 11.34 ATP7A ATP7B SLC11A2
6 11.26 ATP7A SLC11A2 SLC39A4 SLC40A1 TF
7 10.96 CP SLC11A2 SLC40A1 TF TFRC
8 10.28 HAMP HFE HJV
9 10.18 HAMP SLC11A2 SLC40A1 TF TFR2 TFRC

GO Terms for Metal Metabolism Disorder

Cellular components related to Metal Metabolism Disorder according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.97 ATP7B HFE SCN4A SLC11A2 SLC39A4 SLC40A1
2 apical plasma membrane GO:0016324 9.8 ATP7A GNAS SLC11A2 TF
3 cytoplasmic vesicle GO:0031410 9.76 ATP7B GNAS HFE SLC11A2 SLC39A4 TF
4 early endosome GO:0005769 9.73 HFE SLC11A2 TF TFRC
5 trans-Golgi network GO:0005802 9.72 ATP7A ATP7B STX16
6 basolateral plasma membrane GO:0016323 9.71 ATP7A ATP7B SLC40A1 TFRC
7 late endosome GO:0005770 9.7 ATP7A ATP7B TF
8 trans-Golgi network membrane GO:0032588 9.63 ATP7B GNAS STX16
9 recycling endosome GO:0055037 9.62 HFE SLC11A2 TF TFRC
10 perinuclear region of cytoplasm GO:0048471 9.56 ATP7A ATP7B GNAS HFE SLC11A2 STX16
11 basal part of cell GO:0045178 9.43 HFE SLC11A2 TF
12 HFE-transferrin receptor complex GO:1990712 9.02 HFE HJV TF TFR2 TFRC
13 integral component of membrane GO:0016021 10.26 ATP7A ATP7B CACNA1S HFE HJV SCN4A
14 plasma membrane GO:0005886 10.25 ATP7A CACNA1S GNAS HFE HJV SCN4A
15 extracellular space GO:0005615 10.08 CP HAMP HFE HJV PTH TF

Biological processes related to Metal Metabolism Disorder according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 ATP7A ATP7B CACNA1S CP HFE SCN4A
2 transferrin transport GO:0033572 9.78 HFE TF TFR2 TFRC
3 metal ion transport GO:0030001 9.76 ATP7A ATP7B SLC11A2 SLC39A4
4 response to iron ion GO:0010039 9.73 HAMP HFE SLC11A2 TFR2
5 acute-phase response GO:0006953 9.72 HAMP HFE TFR2
6 iron ion transport GO:0006826 9.71 SLC11A2 SLC40A1 TF TFR2
7 copper ion transport GO:0006825 9.67 ATP7A ATP7B CP SLC11A2
8 positive regulation of receptor-mediated endocytosis GO:0048260 9.62 HFE TF
9 response to lead ion GO:0010288 9.62 ATP7A PTH
10 multicellular organismal iron ion homeostasis GO:0060586 9.62 HAMP HFE SLC11A2 SLC40A1
11 response to copper ion GO:0046688 9.61 ATP7A ATP7B
12 cellular copper ion homeostasis GO:0006878 9.61 ATP7A ATP7B
13 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.6 GNAS PTH
14 positive regulation of peptide hormone secretion GO:0090277 9.59 HFE TFR2
15 copper ion import GO:0015677 9.58 ATP7A ATP7B
16 response to parathyroid hormone GO:0071107 9.58 GNAS PTH
17 copper ion transmembrane transport GO:0035434 9.57 ATP7B SLC11A2
18 iron ion import GO:0097286 9.56 TFR2 TFRC
19 cellular response to iron ion GO:0071281 9.56 ATP7A HFE TF TFR2
20 regulation of iron ion import GO:1900390 9.54 HFE TF
21 response to iron ion starvation GO:1990641 9.52 HAMP HFE
22 copper ion export GO:0060003 9.51 ATP7A ATP7B
23 negative regulation of iron ion transmembrane transport GO:0034760 9.49 ATP7A HAMP
24 iron ion homeostasis GO:0055072 9.43 HFE HJV SLC11A2 SLC40A1 TF TFR2
25 cellular iron ion homeostasis GO:0006879 9.28 CP HAMP HFE HJV SLC11A2 SLC40A1

Molecular functions related to Metal Metabolism Disorder according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.61 ATP7A ATP7B CP
2 metal ion transmembrane transporter activity GO:0046873 9.51 SLC11A2 SLC39A4
3 cation-transporting ATPase activity GO:0019829 9.49 ATP7A ATP7B
4 co-receptor binding GO:0039706 9.48 HFE TFR2
5 iron ion transmembrane transporter activity GO:0005381 9.46 SLC11A2 SLC40A1
6 ferrous iron transmembrane transporter activity GO:0015093 9.4 SLC11A2 SLC40A1
7 copper-exporting ATPase activity GO:0004008 9.37 ATP7A ATP7B
8 copper-transporting ATPase activity GO:0043682 9.32 ATP7A ATP7B
9 transferrin receptor activity GO:0004998 9.26 TFR2 TFRC
10 transferrin transmembrane transporter activity GO:0033570 9.16 TFR2 TFRC
11 transferrin receptor binding GO:1990459 9.13 HFE HJV TF
12 copper ion transmembrane transporter activity GO:0005375 8.8 ATP7A ATP7B SLC11A2

Sources for Metal Metabolism Disorder

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
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