MCID: ATS421
MIFTS: 17

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 60

Classifications:



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 (SCO Cytochrome C Oxidase Assembly Protein 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:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
2 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
3 pes planus 60 33 frequent (33%) Frequent (79-30%) HP:0001763
4 increased serum lactate 60 33 frequent (33%) Frequent (79-30%) HP:0002151
5 motor delay 60 33 frequent (33%) Frequent (79-30%) HP:0001270
6 areflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001284
7 fasciculations 60 33 frequent (33%) Frequent (79-30%) HP:0002380
8 clumsiness 60 33 frequent (33%) Frequent (79-30%) HP:0002312
9 facial diplegia 60 33 frequent (33%) Frequent (79-30%) HP:0001349
10 foot dorsiflexor weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009027
11 generalized limb muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0009055
12 lower limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0007340
13 impaired vibration sensation in the lower limbs 60 33 frequent (33%) Frequent (79-30%) HP:0002166
14 frequent falls 60 33 frequent (33%) Frequent (79-30%) HP:0002359
15 steppage gait 60 33 frequent (33%) Frequent (79-30%) HP:0003376
16 exotropia 60 33 frequent (33%) Frequent (79-30%) HP:0000577
17 motor polyneuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0007178
18 emg: chronic denervation signs 60 33 frequent (33%) Frequent (79-30%) HP:0003444
19 abnormal circulating copper concentration 33 frequent (33%) HP:0010836
20 cardiomyopathy 60 Excluded (0%)
21 abnormal levels of creatine kinase in blood 60 Excluded (0%)
22 abnormality of copper homeostasis 60 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:

42
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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