MCID: MTL002
MIFTS: 31

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 hypocalcemia, autosomal dominant 1 and hemochromatosis, type 1. 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. Affiliated tissues include kidney, and 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 top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 hypocalcemia, autosomal dominant 1 31.4 CASR GNAS PTH
2 hemochromatosis, type 1 30.2 ATP7B CASR CP HAMP HFE HJV
3 acrodermatitis enteropathica, zinc-deficiency type 11.1
4 primary hypomagnesemia 11.1
5 hyperferritinemia with or without cataract 10.3 HFE TF
6 hemochromatosis, type 2a 10.2 HAMP HJV
7 swayback 10.2 CP HFE
8 hemoglobinopathy 10.2 HAMP HFE TF
9 periodic paralyses 10.2 CACNA1S SCN4A
10 folic acid deficiency anemia 10.1 TF TFRC
11 hyperkalemic periodic paralysis 10.1 CACNA1S SCN4A
12 nutritional deficiency disease 10.1 CP HAMP TF
13 thalassemia 10.1 HFE TF TFRC
14 menkes disease 10.1 ATP7A ATP7B CP
15 hypothyroidism, congenital, nongoitrous, 1 10.1 GNAS STX16
16 familial periodic paralysis 10.1 CACNA1S SCN4A
17 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.1 ATP7A ATP7B
18 porphyria cutanea tarda 10.0 HAMP HFE TF TFRC
19 hypochromic microcytic anemia 10.0 CP SLC11A2 TF
20 siderosis 10.0 HFE SLC40A1 TF TFRC
21 beta-thalassemia 10.0 HFE TF TFR2 TFRC
22 hemochromatosis, type 3 10.0 HAMP HFE HJV SLC40A1 TFR2
23 pseudopseudohypoparathyroidism 10.0 GNAS PTH STX16
24 hfe-associated hereditary hemochromatosis 10.0 HFE HJV SLC11A2 TFR2
25 pseudohypoparathyroidism 10.0 GNAS PTH STX16
26 microcytic anemia 10.0 SLC11A2 TF TFRC
27 pseudohypoparathyroidism, type ib 10.0 GNAS PTH STX16
28 wilson disease 10.0 ATP7A ATP7B CP HFE TF
29 ancylostomiasis 10.0 CP TF
30 celiac disease 1 9.9 HFE PTH TFRC
31 hypocalciuric hypercalcemia, familial, type i 9.9 CASR PTH
32 hypocalciuric hypercalcemia, familial, type ii 9.9 CASR PTH
33 hypocalciuric hypercalcemia, familial, type iii 9.9 CASR PTH
34 hypoparathyroidism, familial isolated 9.9 CASR PTH
35 hemochromatosis, type 4 9.9 HAMP HFE HJV SLC40A1 TF TFR2
36 hemochromatosis type 2 9.9 HAMP HFE HJV SLC40A1 TF TFR2
37 calciphylaxis 9.9 CASR PTH
38 restless legs syndrome 9.9 PTH SLC11A2 TFRC
39 aceruloplasminemia 9.9 CP HAMP HFE HJV TF TFR2
40 osteitis fibrosa 9.9 CASR GNAS PTH
41 uremia 9.9 CASR PTH TF
42 hypercalcemia, infantile, 1 9.9 CASR PTH
43 multiple endocrine neoplasia, type i 9.9 CASR GNAS PTH
44 inherited metabolic disorder 9.8 ATP7B GNAS HAMP HFE HJV TF
45 familial isolated hyperparathyroidism 9.8 CASR PTH
46 phosphorus metabolism disease 9.7 CASR GNAS PTH STX16
47 hyperphosphatemia 9.7 CASR GNAS PTH STX16
48 hemosiderosis 9.6 CP HAMP HFE SLC11A2 SLC40A1 TF
49 iron deficiency anemia 9.6 HAMP HFE HJV SLC11A2 SLC40A1 TF
50 iron overload in africa 9.5 CASR HAMP HFE SLC40A1 TF TFR2

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 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.39 ATP7A ATP7B CACNA1S CASR CP GNAS
2 growth/size/body region MP:0005378 10.37 ATP7A ATP7B CACNA1S CASR GNAS HFE
3 cellular MP:0005384 10.29 ATP7A ATP7B CACNA1S CASR CP GNAS
4 behavior/neurological MP:0005386 10.28 ATP7A ATP7B CACNA1S CASR CP GNAS
5 cardiovascular system MP:0005385 10.26 ATP7A CACNA1S CP GNAS HJV PTH
6 hematopoietic system MP:0005397 10.26 ATP7B CASR CP GNAS HFE HJV
7 immune system MP:0005387 10.21 ATP7A ATP7B CASR CP GNAS HFE
8 mortality/aging MP:0010768 10.1 ATP7A ATP7B CACNA1S CASR GNAS HFE
9 integument MP:0010771 10.06 ATP7A ATP7B CACNA1S CASR GNAS HJV
10 liver/biliary system MP:0005370 10.06 ATP7A ATP7B CP GNAS HFE HJV
11 limbs/digits/tail MP:0005371 9.85 ATP7A CACNA1S GNAS HFE PTH SLC40A1
12 muscle MP:0005369 9.7 ATP7A ATP7B CACNA1S CASR GNAS SCN4A
13 nervous system MP:0003631 9.65 ATP7A ATP7B CACNA1S CP GNAS HFE
14 skeleton MP:0005390 9.28 ATP7A CACNA1S CASR GNAS HFE PTH

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

MalaCards organs/tissues related to Metal Metabolism Disorder:

41
Kidney

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 11.68 CASR GNAS PTH
5 11.45 CP TF TFRC
6 11.34 ATP7A ATP7B SLC11A2
7 11.26 ATP7A SLC11A2 SLC39A4 SLC40A1 TF
8 10.96 CP SLC11A2 SLC40A1 TF TFRC
9 10.28 HAMP HFE HJV
10 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 17)
# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.97 ATP7B CASR HFE SCN4A SLC11A2 SLC39A4
2 cell surface GO:0009986 9.92 CASR HJV SLC11A2 TF TFRC
3 early endosome GO:0005769 9.8 HFE SLC11A2 TF TFRC
4 basolateral plasma membrane GO:0016323 9.8 ATP7A ATP7B CASR SLC40A1 TFRC
5 cytoplasmic vesicle GO:0031410 9.76 ATP7B GNAS HFE SLC11A2 SLC39A4 TF
6 blood microparticle GO:0072562 9.74 CP TF TFRC
7 recycling endosome GO:0055037 9.73 HFE SLC11A2 TF TFRC
8 apical plasma membrane GO:0016324 9.73 ATP7A CASR GNAS SLC11A2 SLC39A4 TF
9 late endosome GO:0005770 9.72 ATP7A ATP7B TF
10 trans-Golgi network membrane GO:0032588 9.69 ATP7B GNAS STX16
11 perinuclear region of cytoplasm GO:0048471 9.56 ATP7A ATP7B GNAS HFE SLC11A2 STX16
12 basal part of cell GO:0045178 9.54 HFE SLC11A2 TF
13 HFE-transferrin receptor complex GO:1990712 9.02 HFE HJV TF TFR2 TFRC
14 membrane GO:0016020 10.38 ATP7A ATP7B CACNA1S CASR GNAS HFE
15 integral component of membrane GO:0016021 10.27 ATP7A ATP7B CACNA1S CASR HFE HJV
16 plasma membrane GO:0005886 10.26 ATP7A CACNA1S CASR GNAS HFE HJV
17 extracellular space GO:0005615 10.1 CP HAMP HFE HJV PTH TF

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

(show all 26)
# 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 calcium ion import GO:0070509 9.63 CACNA1S CASR
9 positive regulation of receptor-mediated endocytosis GO:0048260 9.62 HFE TF
10 response to lead ion GO:0010288 9.62 ATP7A PTH
11 multicellular organismal iron ion homeostasis GO:0060586 9.62 HAMP HFE SLC11A2 SLC40A1
12 response to copper ion GO:0046688 9.61 ATP7A ATP7B
13 cellular copper ion homeostasis GO:0006878 9.61 ATP7A ATP7B
14 positive regulation of peptide hormone secretion GO:0090277 9.6 HFE TFR2
15 response to fibroblast growth factor GO:0071774 9.59 CASR PTH
16 copper ion import GO:0015677 9.58 ATP7A ATP7B
17 copper ion transmembrane transport GO:0035434 9.58 ATP7B SLC11A2
18 response to parathyroid hormone GO:0071107 9.57 GNAS PTH
19 iron ion import GO:0097286 9.56 TFR2 TFRC
20 cellular response to iron ion GO:0071281 9.56 ATP7A HFE TF TFR2
21 regulation of iron ion import GO:1900390 9.54 HFE TF
22 response to iron ion starvation GO:1990641 9.52 HAMP HFE
23 copper ion export GO:0060003 9.51 ATP7A ATP7B
24 negative regulation of iron ion transmembrane transport GO:0034760 9.49 ATP7A HAMP
25 iron ion homeostasis GO:0055072 9.43 HFE HJV SLC11A2 SLC40A1 TF TFR2
26 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 metal ion transmembrane transporter activity GO:0046873 9.51 SLC11A2 SLC39A4
2 co-receptor binding GO:0039706 9.49 HFE TFR2
3 cation-transporting ATPase activity GO:0019829 9.48 ATP7A ATP7B
4 iron ion transmembrane transporter activity GO:0005381 9.46 SLC11A2 SLC40A1
5 copper ion binding GO:0005507 9.46 ATP7A ATP7B CP SLC11A2
6 ferrous iron transmembrane transporter activity GO:0015093 9.43 SLC11A2 SLC40A1
7 copper-exporting ATPase activity GO:0004008 9.4 ATP7A ATP7B
8 copper-transporting ATPase activity GO:0043682 9.37 ATP7A ATP7B
9 transferrin receptor activity GO:0004998 9.32 TFR2 TFRC
10 transferrin transmembrane transporter activity GO:0033570 9.26 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
Content
Loading form....