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 70
Metal Metabolism, Inborn Errors 44 70
Inborn Metal Metabolism Disorder 12

Classifications:



External Ids:

Disease Ontology 12 DOID:896
MeSH 44 D008664
UMLS 70 C0025534 C0596916

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 occipital horn syndrome and atransferrinemia. 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. The drug Iron has been mentioned in the context of this disorder. Related phenotypes are Decreased viability and Decreased viability

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 65)
# Related Disease Score Top Affiliating Genes
1 occipital horn syndrome 32.3 CP ATP7B ATP7A ATOX1
2 atransferrinemia 31.9 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
3 hemochromatosis, type 1 31.5 TMPRSS6 TFRC TFR2 SLC40A1 SLC39A4 SLC11A2
4 acrodermatitis enteropathica, zinc-deficiency type 11.1
5 hypocalcemia, autosomal dominant 1 11.1
6 primary hypomagnesemia 11.1
7 hypermanganesemia with dystonia 11.1
8 disorder of copper metabolism 10.5 ATP7B ATP7A
9 hemochromatosis, type 5 10.5 TFR2 HJV HFE
10 disorders of gnas inactivation 10.4 STX16 GNAS
11 folic acid deficiency anemia 10.4 TFRC HAMP
12 periodic paralyses 10.4 SCN4A CACNA1S
13 anemia, congenital dyserythropoietic, type ia 10.4 TFRC HJV HAMP
14 chromosome 2q37 deletion syndrome 10.4 STX16 PTH GNAS
15 spinal muscular atrophy, distal, x-linked 3 10.4 CP ATP7B ATP7A ATOX1
16 graves disease 1 10.4 SCN4A PTH CACNA1S
17 pseudopseudohypoparathyroidism 10.4 STX16 PTH GNAS
18 pseudohypoparathyroidism 10.4 STX16 PTH GNAS
19 erythrocytosis, familial, 2 10.4 SLC11A2 HAMP CYBRD1
20 mineral metabolism disease 10.4 PTH HFE HAMP
21 iron-refractory iron deficiency anemia 10.4 TMPRSS6 HJV
22 phosphorus metabolism disease 10.4 STX16 PTH GNAS
23 hypothyroidism, congenital, nongoitrous, 1 10.4 STX16 PTH GNAS
24 menkes disease 10.4 CP ATP7B ATP7A ATOX1
25 hemochromatosis, type 2a 10.4 HJV HAMP
26 pseudohypoparathyroidism, type ia 10.4 STX16 PTH GNAS
27 congenital dyserythropoietic anemia 10.4 TFRC HFE HAMP
28 rare hereditary hemochromatosis 10.4 TFR2 SLC40A1 HJV HFE HAMP
29 acrodysostosis 10.4 STX16 PTH GNAS
30 osseous heteroplasia, progressive 10.4 STX16 PTH GNAS
31 siderosis 10.4 TFRC SLC40A1 HFE HAMP CP
32 multinodular goiter 10.4 PTH GNAS CP
33 bladder diverticulum 10.4 CP ATP7A
34 pseudohypoparathyroidism, type ib 10.4 STX16 PTH GNAS
35 hemoglobinopathy 10.4 TFRC TFR2 HJV HFE HAMP
36 neuropathy, hereditary sensory and autonomic, type vii 10.4 SCN4A CACNA1S
37 sideroblastic anemia 10.4 TFR2 SLC40A1 HAMP
38 wilson disease 10.4 HFE CP ATP7B ATP7A ATOX1
39 hyperphosphatemia 10.3 STX16 PTH GNAS
40 nutritional deficiency disease 10.3 TMPRSS6 TFRC HJV HAMP CP
41 restless legs syndrome 10.3 TFRC SLC11A2 PTH HAMP
42 hyperferritinemia with or without cataract 10.3 TFR2 SLC40A1 SLC11A2 HJV HFE HAMP
43 iron overload in africa 10.3 TFR2 SLC40A1 HJV HFE HEPH HAMP
44 arthropathy 10.3 HJV HFE HAMP
45 beta-thalassemia 10.3 TMPRSS6 TFRC TFR2 HJV HFE HAMP
46 osteitis fibrosa 10.3 PTH GNAS
47 hypochromic microcytic anemia 10.3 TMPRSS6 TFRC SLC11A2 HJV HAMP CP
48 retinitis pigmentosa 50 10.3 HEPH CYBRD1
49 inherited metabolic disorder 10.3 TFR2 HJV HFE HAMP CP ATP7B
50 cutaneous porphyria 10.3 HFE HAMP

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



Diseases related to Metal Metabolism Disorder

Symptoms & Phenotypes for Metal Metabolism Disorder

GenomeRNAi Phenotypes related to Metal Metabolism Disorder according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.64 CYBRD1 TFRC TMPRSS6
2 Decreased viability GR00249-S 9.64 ATP7A CP SCN4A SLC11A2 TMPRSS6
3 Decreased viability GR00381-A-1 9.64 GNAS TFR2 TMPRSS6
4 Decreased viability GR00386-A-1 9.64 ATOX1 ATP7A CACNA1S GNAS TFR2
5 Decreased viability GR00402-S-2 9.64 HAMP HJV SLC11A2 SLC39A4 TFRC

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 ATOX1 ATP7A ATP7B CACNA1S CP CYBRD1
2 growth/size/body region MP:0005378 10.38 ATOX1 ATP7A ATP7B CACNA1S GNAS HFE
3 cardiovascular system MP:0005385 10.37 ATOX1 ATP7A CACNA1S CP CYBRD1 GNAS
4 behavior/neurological MP:0005386 10.31 ATOX1 ATP7A ATP7B CACNA1S CP GNAS
5 hematopoietic system MP:0005397 10.27 ATP7A ATP7B CP GNAS HEPH HFE
6 cellular MP:0005384 10.25 ATP7A ATP7B CACNA1S CP GNAS HFE
7 immune system MP:0005387 10.22 ATP7A ATP7B CP GNAS HEPH HFE
8 liver/biliary system MP:0005370 10.2 ATOX1 ATP7A ATP7B CP CYBRD1 GNAS
9 integument MP:0010771 10.11 ATOX1 ATP7A ATP7B CACNA1S GNAS HEPH
10 digestive/alimentary MP:0005381 10.1 ATP7A CACNA1S HEPH HFE SLC39A4 SLC40A1
11 mortality/aging MP:0010768 10.1 ATOX1 ATP7A ATP7B CACNA1S GNAS HFE
12 nervous system MP:0003631 10 ATOX1 ATP7A ATP7B CACNA1S CP GNAS
13 pigmentation MP:0001186 9.43 ATOX1 ATP7A ATP7B CP HEPH TMPRSS6
14 skeleton MP:0005390 9.28 ATP7A CACNA1S GNAS HFE PTH SLC39A4

Drugs & Therapeutics for Metal Metabolism Disorder

Drugs for Metal Metabolism Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 2, Phase 3 7439-89-6 23925 29936

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dose Escalating Study to Evaluate Pharmacokinetics, Efficacy and Safety of Apotransferrin in Atransferrinemia Patients Recruiting NCT01797055 Phase 2, Phase 3 Human apotransferrin
2 A Phase 2/3, Multicenter, Multinational, Open Label Study to Evaluate the Efficacy and Safety of ORGN001 (Formerly ALXN1101) in Neonates, Infants and Children With Molybdenum Cofactor Deficiency (MOCD) Type A Recruiting NCT02629393 Phase 2, Phase 3 ORGN001 (formerly ALXN1101)
3 A Phase 2, Multicenter, Multinational, Open-Label, Dose-Escalation Study to Evaluate the Safety and Efficacy of ORGN001 (Formerly ALXN1101) in Pediatric Patients With Molybdenum Cofactor Deficiency (MoCD) Type A Currently Treated With Recombinant Escherichia Coli-derived Cyclic Pyranopterin Monophosphate (rcPMP) Active, not recruiting NCT02047461 Phase 2 ORGN001 (formerly ALXN1101)
4 A Multicenter, Open-Label Study of the Safety, Tolerability, and Pharmacodynamics of Intravenously Administered cPMP (Precursor Z) in Patients With Molybdenum Cofactor Deficiency Type A Withdrawn NCT00957749 Phase 1, Phase 2 cPMP
5 A Retrospective, Observational, Noninterventional Data Collection Study for Patients With Molybdenum Cofactor Deficiency Who Have Been Previously Treated With Cyclic Pyranopterin Monophosphate (cPMP) Completed NCT01640717

Search 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
13.2 TFRC SLC40A1 SLC39A4 SLC11A2 HEPH GNAS
2
Show member pathways
12.25 TFRC SLC40A1 SLC11A2 HEPH GNAS CYBRD1
3
Show member pathways
11.7 SLC40A1 SLC39A4 SLC11A2 HEPH CP
4 11.47 SLC11A2 ATP7B ATP7A ATOX1
5 11.32 TFRC SLC40A1 SLC11A2 CP
6 11 SLC40A1 SLC39A4 SLC11A2 HEPH CYBRD1 ATP7B
7 10.43 TFRC TFR2 SLC40A1 SLC11A2 HAMP
8 10.3 TMPRSS6 HJV HFE HAMP

GO Terms for Metal Metabolism Disorder

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.38 TMPRSS6 TFRC TFR2 STX16 SLC40A1 SLC39A4
2 plasma membrane GO:0005886 10.13 TMPRSS6 TFRC TFR2 SLC40A1 SLC39A4 SLC11A2
3 integral component of membrane GO:0016021 10.06 TMPRSS6 TFRC TFR2 STX16 SLC40A1 SLC39A4
4 integral component of plasma membrane GO:0005887 10.01 TFRC TFR2 SLC40A1 SLC39A4 SLC11A2 SCN4A
5 cytoplasmic vesicle GO:0031410 9.91 TFRC TFR2 SLC39A4 SLC11A2 HFE GNAS
6 trans-Golgi network GO:0005802 9.73 STX16 SLC11A2 ATP7B ATP7A
7 basolateral plasma membrane GO:0016323 9.72 TFRC SLC40A1 HEPH ATP7B ATP7A
8 trans-Golgi network membrane GO:0032588 9.67 STX16 GNAS ATP7B
9 brush border membrane GO:0031526 9.63 SLC11A2 CYBRD1 ATP7A
10 perinuclear region of cytoplasm GO:0048471 9.56 TFRC STX16 SLC11A2 HFE HEPH GNAS
11 basal part of cell GO:0045178 9.51 SLC11A2 HFE
12 HFE-transferrin receptor complex GO:1990712 8.92 TFRC TFR2 HJV HFE

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 10 SLC40A1 SLC39A4 SLC11A2 SCN4A HFE HEPH
2 metal ion transport GO:0030001 9.83 SLC39A4 SLC11A2 ATP7B ATP7A ATOX1
3 iron ion transport GO:0006826 9.8 TFRC TFR2 SLC11A2 HEPH CP
4 female pregnancy GO:0007565 9.79 HFE GNAS ATP7A
5 acute-phase response GO:0006953 9.74 TFR2 HFE HAMP
6 transferrin transport GO:0033572 9.73 TFRC TFR2 HFE
7 response to iron ion GO:0010039 9.72 TFR2 SLC11A2 HFE HAMP CYBRD1
8 inorganic cation transmembrane transport GO:0098662 9.7 SLC40A1 ATP7B ATP7A
9 cellular copper ion homeostasis GO:0006878 9.69 ATP7B ATP7A ATOX1
10 cellular response to iron ion GO:0071281 9.67 TFR2 HFE ATP7A
11 divalent inorganic cation transport GO:0072511 9.67 SLC40A1 SLC11A2 ATP7B ATP7A
12 multicellular organismal iron ion homeostasis GO:0060586 9.65 SLC40A1 SLC11A2 HAMP
13 copper ion export GO:0060003 9.63 ATP7B ATP7A ATOX1
14 copper ion transport GO:0006825 9.63 SLC11A2 HEPH CP ATP7B ATP7A ATOX1
15 response to lead ion GO:0010288 9.62 PTH ATP7A
16 response to copper ion GO:0046688 9.62 ATP7B ATP7A
17 positive regulation of peptide hormone secretion GO:0090277 9.61 TFR2 HFE
18 iron ion homeostasis GO:0055072 9.61 TMPRSS6 TFR2 SLC40A1 SLC11A2 HJV HFE
19 iron ion transmembrane transport GO:0034755 9.6 SLC40A1 SLC11A2
20 copper ion import GO:0015677 9.59 ATP7B ATP7A
21 response to parathyroid hormone GO:0071107 9.58 PTH GNAS
22 copper ion transmembrane transport GO:0035434 9.58 SLC11A2 ATP7B
23 response to iron ion starvation GO:1990641 9.55 HFE HAMP
24 negative regulation of iron ion transmembrane transport GO:0034760 9.54 HAMP ATP7A
25 cellular iron ion homeostasis GO:0006879 9.36 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV

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 SLC39A4 SLC11A2
2 cation-transporting ATPase activity GO:0019829 9.49 ATP7B ATP7A
3 co-receptor binding GO:0039706 9.48 TFR2 HFE
4 transferrin receptor binding GO:1990459 9.46 HJV HFE
5 iron ion transmembrane transporter activity GO:0005381 9.43 SLC40A1 SLC11A2
6 ferroxidase activity GO:0004322 9.4 HEPH CP
7 ferrous iron transmembrane transporter activity GO:0015093 9.37 SLC40A1 SLC11A2
8 copper-dependent protein binding GO:0032767 9.32 ATP7A ATOX1
9 copper-transporting ATPase activity GO:0043682 9.26 ATP7B ATP7A
10 transferrin receptor activity GO:0004998 9.16 TFRC TFR2
11 copper ion transmembrane transporter activity GO:0005375 9.13 SLC11A2 ATP7B ATP7A
12 copper ion binding GO:0005507 9.1 HEPH HAMP CP ATP7B ATP7A ATOX1

Sources for Metal Metabolism Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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