MCID: ATS421
MIFTS: 13

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to...

MalaCards integrated aliases for Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect:

Name: Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to...

MalaCards based summary : Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect An important gene associated with Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect is SCO2 (Synthesis Of Cytochrome C Oxidase 2). Affiliated tissues include skin, and related phenotypes are ptosis and dysarthria

Related Diseases for Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to...

Symptoms & Phenotypes for Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to...

Human phenotypes related to Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
2 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
3 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
4 areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001284
5 increased serum lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002151
6 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
7 fasciculations 58 31 frequent (33%) Frequent (79-30%) HP:0002380
8 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
9 facial diplegia 58 31 frequent (33%) Frequent (79-30%) HP:0001349
10 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
11 generalized limb muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009055
12 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
13 impaired vibration sensation in the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002166
14 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
15 steppage gait 58 31 frequent (33%) Frequent (79-30%) HP:0003376
16 exotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000577
17 motor polyneuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007178
18 emg: chronic denervation signs 58 31 frequent (33%) Frequent (79-30%) HP:0003444
19 abnormal circulating copper concentration 31 frequent (33%) HP:0010836
20 cardiomyopathy 58 Excluded (0%)
21 abnormal levels of creatine kinase in blood 58 Excluded (0%)
22 abnormality of copper homeostasis 58 Frequent (79-30%)

Drugs & Therapeutics for Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to...

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

Genetic Tests for Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to...

Anatomical Context for Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to...

MalaCards organs/tissues related to Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect:

40
Skin

Publications for Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to...

Variations for Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to...

Expression for Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to...

Search GEO for disease gene expression data for Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect.

Pathways for Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to...

GO Terms for Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to...

Sources for Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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