HACD59
MCID: HML042
MIFTS: 33

Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy (HACD59)

Categories: Blood diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated...

MalaCards integrated aliases for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy:

Name: Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy 57
Cd59 Deficiency 57 73 13 71
Cd59-Mediated Hemolytic Anemia with or Without Immune-Mediated Polyneuropathy 73 29 6
Hacd59 57 73
Anemia, Hemolytic, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy 39
Hemolytic Anemia, Cd59-Mediated, with or Without Polyneuropathy 73
Primary Cd59 Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
primary cd59 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy (3 to 7 months)
exacerbations during infection
relapsing-remitting course
immunosuppressive therapy may be beneficial


HPO:

31
hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare haematological diseases
Rare immunological diseases


External Ids:

OMIM® 57 612300
MeSH 44 D000745
ICD10 via Orphanet 33 D84.1
Orphanet 58 ORPHA169464
MedGen 41 C2676767
UMLS 71 C2676767

Summaries for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated...

OMIM® : 57 CD59-mediated hemolytic anemia with immune-mediated polyneuropathy is an autosomal recessive disorder characterized by infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia. Immunosuppressive treatment may result in some clinical improvement (summary by Nevo et al., 2013). (612300) (Updated 05-Mar-2021)

MalaCards based summary : Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy, also known as cd59 deficiency, is related to chronic inflammatory demyelinating polyradiculoneuropathy and paroxysmal nocturnal hemoglobinuria, and has symptoms including hand and foot weakness An important gene associated with Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy is CD59 (CD59 Molecule (CD59 Blood Group)). Affiliated tissues include skeletal muscle, brain and bone marrow, and related phenotypes are skeletal muscle atrophy and hemolytic anemia

UniProtKB/Swiss-Prot : 73 Hemolytic anemia, CD59-mediated, with or without polyneuropathy: An autosomal recessive disorder characterized by infantile onset of chronic hemolysis and a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifested as hypotonia, limb muscle weakness, and hyporeflexia.

Related Diseases for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated...

Diseases related to Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 chronic inflammatory demyelinating polyradiculoneuropathy 10.2
2 paroxysmal nocturnal hemoglobinuria 10.1
3 guillain-barre syndrome 10.1
4 polyneuropathy 10.1
5 hemoglobinuria 10.1
6 demyelinating polyneuropathy 10.1
7 acute promyelocytic leukemia 10.0
8 polyradiculoneuropathy 10.0
9 peripheral nervous system disease 10.0
10 hemolytic anemia 10.0
11 neuropathy 10.0
12 systemic lupus erythematosus 9.8
13 myasthenia gravis 9.8
14 leukemia, acute myeloid 9.8
15 proteinuria, chronic benign 9.8
16 exanthem 9.8
17 disseminated intravascular coagulation 9.8
18 quadriplegia 9.8
19 crescentic glomerulonephritis 9.8
20 angioedema 9.8
21 glomerulonephritis 9.8
22 demyelinating disease 9.8
23 myelitis 9.8
24 retinal disease 9.8
25 lymphopenia 9.8
26 axonal neuropathy 9.8
27 lupus erythematosus 9.8
28 c1q nephropathy 9.8
29 paresthesia 9.8

Graphical network of the top 20 diseases related to Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy:



Diseases related to Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy

Symptoms & Phenotypes for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated...

Human phenotypes related to Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 skeletal muscle atrophy 31 HP:0003202
2 hemolytic anemia 31 HP:0001878
3 areflexia 31 HP:0001284
4 limb muscle weakness 31 HP:0003690
5 polyneuropathy 31 HP:0001271
6 generalized hypotonia 31 HP:0001290
7 paralysis 31 HP:0003470
8 increased csf protein 31 HP:0002922
9 paroxysmal nocturnal hemoglobinuria 31 HP:0004818

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Hematology:
hemolytic anemia

Laboratory Abnormalities:
increased csf protein
absence of cd59 expression on red cells

Neurologic Peripheral Nervous System:
areflexia
limb weakness
chronic immune-mediated polyneuropathy
limb paralysis
sensory and motor demyelination seen on sural nerve biopsy
more
Muscle Soft Tissue:
hand and foot weakness
hypotonia
muscle weakness, upper and lower limbs
muscle atrophy, progressive

Clinical features from OMIM®:

612300 (Updated 05-Mar-2021)

UMLS symptoms related to Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy:


hand and foot weakness

Drugs & Therapeutics for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open Label Study of the Effects of Eculizumab in CD59 Deficiency Unknown status NCT01579838 Phase 1, Phase 2 Eculizumab

Search NIH Clinical Center for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy

Genetic Tests for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated...

Genetic tests related to Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy:

# Genetic test Affiliating Genes
1 Cd59-Mediated Hemolytic Anemia with or Without Immune-Mediated Polyneuropathy 29 CD59

Anatomical Context for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated...

MalaCards organs/tissues related to Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy:

40
Skeletal Muscle, Brain, Bone Marrow, Bone, Kidney, Endothelial

Publications for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated...

Articles related to Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy:

(show all 48)
# Title Authors PMID Year
1
Targeted therapy with eculizumab for inherited CD59 deficiency. 61 6 57
24382084 2014
2
CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy. 57 6 61
23149847 2013
3
Paroxysmal nocturnal hemoglobinuria due to hereditary nucleotide deletion in the HRF20 (CD59) gene. 57 6
1382994 1992
4
Targeted deletion of the CD59 gene causes spontaneous intravascular hemolysis and hemoglobinuria. 57
11435315 2001
5
Localization of the human CD59 gene by fluorescence in situ hybridization and pulsed-field gel electrophoresis. 57
7683594 1993
6
Inherited complete deficiency of 20-kilodalton homologous restriction factor (CD59) as a cause of paroxysmal nocturnal hemoglobinuria. 57
1699124 1990
7
Recurrent angioedema, Guillain-Barré, and myelitis in a girl with systemic lupus erythematosus and CD59 deficiency syndrome. 61
32612799 2020
8
Recurrent Demyelinating Episodes as Sole Manifestation of Inherited CD59 Deficiency. 61
31752029 2020
9
Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management. 61
31421540 2019
10
An update on the CD59 blood group system. 61
30908070 2019
11
Molecular pathogenesis of human CD59 deficiency. 61
30533526 2018
12
Uncontrolled inflammation of the nervous system: Inherited CD59 deficiency. 61
30564502 2018
13
CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vessels. 61
29843966 2018
14
CD59 is a potential biomarker of esophageal squamous cell carcinoma radioresistance by affecting DNA repair. 61
30166523 2018
15
Neonatal-Onset Recurrent Guillain-Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency. 61
28800659 2017
16
Expression pattern of CD55 and CD59 on red blood cells in sickle cell disease. 61
27667587 2017
17
Altered Expression Pattern of CD55 and CD59 on Red Blood Cells in Anemia of Chronic Kidney Disease. 61
28957817 2017
18
Clinico-Haematological Features of Paroxysmal Nocturnal Haemoglobinuria. 61
28292372 2017
19
Devastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiency. 61
26233519 2015
20
C1q nephropathy and isolated CD59 deficiency manifesting as necrotizing crescentic glomerulonephritis: A rare association of two diseases. 61
26586072 2015
21
Paroxysmal nocturnal hemoglobinuria (PNH) and primary p.Cys89Tyr mutation in CD59: Differences and similarities. 61
25818314 2015
22
Congenital CD59 Deficiency. 61
26043388 2015
23
Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency. 61
25716358 2015
24
Necrotizing Fasciitis in Paroxysmal Nocturnal Hemoglobinuria. 61
26347833 2015
25
A new blood group antigen is defined by anti-CD59, detected in a CD59-deficient patient. 61
24383981 2014
26
The presence of CD55- and/or CD59-deficient erythrocytic populations in patients with rheumatic diseases reflects an immune-mediated bone-marrow derived phenomenon. 61
24463881 2014
27
Isolated central retinal artery occlusion as an initial presentation of paroxysmal nocturnal hemoglobinuria and successful long-term prevention of systemic thrombosis with eculizumab. 61
23765390 2013
28
Prevalence of paroxysmal nocturnal hemoglobinuria in Chinese patients with Budd-Chiari syndrome or portal vein thrombosis. 61
23020629 2013
29
[Acute promyelocytic leukemia with CD59 deficiency]. 61
21129240 2010
30
Clinical significance of complement deficiencies. 61
19758139 2009
31
CD59 but not DAF deficiency accelerates atherosclerosis in female ApoE knockout mice. 61
19297024 2009
32
PNH revisited: Clinical profile, laboratory diagnosis and follow-up. 61
19136777 2009
33
Brief report: accelerated atherosclerosis in low-density lipoprotein receptor-deficient mice lacking the membrane-bound complement regulator CD59. 61
18617646 2008
34
Reduction of CD55 and/or CD59 in red blood cells of patients with HIV infection. 61
18443552 2008
35
Detection of CD55- and CD59-deficient granulocytic populations in patients with myelodysplastic syndrome. 61
18158579 2008
36
Complement regulator CD59 deficiency fails to augment susceptibility to actively induced experimental autoimmune myasthenia gravis. 61
17056125 2006
37
Heterogeneity in the molecular pathogenesis of paroxysmal nocturnal hemoglobinuria (PNH) syndromes and expansion mechanism of a PNH clone. 61
16926129 2006
38
CD55 and CD59 deficiency in transplant patient populations: possible association with paroxysmal nocturnal hemoglobinuria-like symptoms in Campath-treated patients. 61
16908271 2006
39
Protection of erythrocytes from human complement-mediated lysis by membrane-targeted recombinant soluble CD59: a new approach to PNH therapy. 61
16322479 2006
40
Critical protection from renal ischemia reperfusion injury by CD55 and CD59. 61
15004194 2004
41
Deficiency of red cell bound CD55 and CD59 in patients with systemic lupus erythematosus. 61
12880676 2003
42
Red cells with paroxysmal nocturnal hemoglobinuria-phenotype in patients with acute leukemia. 61
12186694 2002
43
Detection of CD55- and/or CD59-deficient red cell populations in patients with plasma cell dyscrasias. 61
11843289 2002
44
A standardized flow cytometric method for screening paroxysmal nocturnal haemoglobinuria (PNH) measuring CD55 and CD59 expression on erythrocytes and granulocytes. 61
11488846 2001
45
CD59-deficient blood cells and PIG-A gene abnormalities in Japanese patients with aplastic anaemia. 61
10086790 1999
46
Complement sensitivity of erythrocytes in a patient with inherited complete deficiency of CD59 or with the Inab phenotype. 61
10050712 1999
47
Mechanisms by which the surface expression of the glycosyl-phosphatidylinositol-anchored complement regulatory proteins decay-accelerating factor (CD55) and CD59 is lost in human leukaemia cell lines. 61
8615796 1996
48
Acute promyelocytic leukemia with CD59 deficiency. 61
7692187 1993

Variations for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated...

ClinVar genetic disease variations for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CD59 CD59, 1-BP DEL, CODON 16 Deletion Pathogenic 18052
2 CD59 NM_203330.2(CD59):c.266G>A (p.Cys89Tyr) SNV Pathogenic 64690 rs397514767 11:33731793-33731793 11:33710247-33710247
3 CD59 NM_203330.2(CD59):c.146del (p.Asp49fs) Deletion Pathogenic 100766 rs587777149 11:33738939-33738939 11:33717393-33717393
4 CD59 NM_203330.2(CD59):c.190T>G (p.Cys64Gly) SNV Uncertain significance 522723 rs1554939509 11:33731869-33731869 11:33710323-33710323
5 CD59 NM_203330.2(CD59):c.85T>G (p.Tyr29Asp) SNV Uncertain significance 634643 rs1564972905 11:33739000-33739000 11:33717454-33717454

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy:

73
# Symbol AA change Variation ID SNP ID
1 CD59 p.Cys89Tyr VAR_070124 rs397514767

Expression for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated...

Search GEO for disease gene expression data for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy.

Pathways for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated...

GO Terms for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated...

Sources for Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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