Aceruloplasminemia
Description
Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
Clinical Features
Top most frequent phenotypes and symptoms related to Aceruloplasminemia
- Ataxia
- Spasticity
- Cognitive impairment
- Anemia
- Delayed speech and language development
- Dysarthria
- Tremor
- Fatigue
- Respiratory distress
- Congestive heart failure
And another 36 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available ACERULOPLASMINEMIA have a estimated prevalence of 0.09 per 100k in Europe.— No data available about the known clinical features onset.
Alternative names
Aceruloplasminemia Is also known as hereditary ceruloplasmin deficiency.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Aceruloplasminemia Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)
View the complete list with 57 more genes
Specificity
2 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
BLK, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, NEUROG3, IER3IP1, RFX6, CP, PTF1A, CISD2, GLIS3, EIF2AK3, AKT2, GATA6, GCK, HNF4A, ABCC8, INS , (...)
View the complete list with 5 more genes
Specificity
4 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)
View the complete list with 72 more genes
Specificity
2 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
CP
Specificity
100 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
CP
Specificity
100 %
Genes
100 % |
You can get up to 55 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYOCLONIC-ATONIC EPILEPSY; MAE TREHALASE DEFICIENCY GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1; HGPPS1 CATARACT 12, MULTIPLE TYPES; CTRCT12 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7