MCID: HML042
MIFTS: 30

Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy

Categories: Genetic diseases, Neuronal diseases, Blood diseases, Rare diseases, Immune 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 75 29 13 6 73
Hacd59 57 75
Anemia, Hemolytic, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy 40
Cd59-Mediated Hemolytic Anemia with or Without Immune-Mediated Polyneuropathy 75
Hemolytic Anemia, Cd59-Mediated, with or Without Polyneuropathy 75
Primary Cd59 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
primary cd59 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612300
Orphanet 59 ORPHA169464
ICD10 via Orphanet 34 D84.1
MedGen 42 C2676767
MeSH 44 D000745
UMLS 73 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)

MalaCards based summary : Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy, also known as cd59 deficiency, is related to acute promyelocytic leukemia and leukemia, 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 endothelial, and related phenotypes are areflexia and generalized hypotonia

UniProtKB/Swiss-Prot : 75 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 15)
# Related Disease Score Top Affiliating Genes
1 acute promyelocytic leukemia 9.8
2 leukemia 9.8
3 polyneuropathy 9.8
4 myasthenia gravis 9.7
5 glomerulonephritis 9.7
6 paroxysmal nocturnal hemoglobinuria 9.7
7 crescentic glomerulonephritis 9.7
8 retinitis 9.7
9 retinal disease 9.7
10 hemoglobinuria 9.7
11 axonal neuropathy 9.7
12 neuropathy 9.7
13 c1q nephropathy 9.7
14 myasthenia gravis congenital 9.7
15 endotheliitis 9.7

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...

Symptoms via clinical synopsis from OMIM:

57
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:
hypotonia
muscle weakness, upper and lower limbs
muscle atrophy, progressive
hand and foot weakness


Clinical features from OMIM:

612300

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 areflexia 32 HP:0001284
2 generalized hypotonia 32 HP:0001290
3 hemolytic anemia 32 HP:0001878
4 increased csf protein 32 HP:0002922
5 skeletal muscle atrophy 32 HP:0003202
6 limb muscle weakness 32 HP:0003690
7 paroxysmal nocturnal hemoglobinuria 32 HP:0004818

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 Deficiency 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:

41
Skeletal Muscle, Brain, 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 12)
# Title Authors Year
1
CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vessels. ( 29843966 )
2018
2
Neonatal-Onset Recurrent Guillain-BarrAc Syndrome-Like Disease: Clues for Inherited CD59 Deficiency. ( 28800659 )
2017
3
Early-onset chronic axonal neuropathy, strokes, and hemolysis: Inherited CD59 deficiency. ( 25716358 )
2015
4
C1q nephropathy and isolated CD59 deficiency manifesting as necrotizing crescentic glomerulonephritis: A rare association of two diseases. ( 26586072 )
2015
5
Devastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiency. ( 26233519 )
2015
6
Targeted therapy with eculizumab for inherited CD59 deficiency. ( 24382084 )
2014
7
CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy. ( 23149847 )
2013
8
[Acute promyelocytic leukemia with CD59 deficiency]. ( 21129240 )
2010
9
CD55 and CD59 deficiency in transplant patient populations: possible association with paroxysmal nocturnal hemoglobinuria-like symptoms in Campath-treated patients. ( 16908271 )
2006
10
Complement regulator CD59 deficiency fails to augment susceptibility to actively induced experimental autoimmune myasthenia gravis. ( 17056125 )
2006
11
Protease-modified erythrocytes: CD55 and CD59 deficient PNH-like cells. ( 7539403 )
1995
12
Acute promyelocytic leukemia with CD59 deficiency. ( 7692187 )
1993

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

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

75
# Symbol AA change Variation ID SNP ID
1 CD59 p.Cys89Tyr VAR_070124 rs397514767

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CD59 CD59, 1-BP DEL, CODON 16 deletion Pathogenic
2 CD59 NM_203330.2(CD59): c.266G> A (p.Cys89Tyr) single nucleotide variant Pathogenic rs397514767 GRCh37 Chromosome 11, 33731793: 33731793
3 CD59 NM_203330.2(CD59): c.266G> A (p.Cys89Tyr) single nucleotide variant Pathogenic rs397514767 GRCh38 Chromosome 11, 33710247: 33710247
4 CD59 NM_203330.2(CD59): c.146delA (p.Asp49Valfs) deletion Pathogenic rs587777149 GRCh38 Chromosome 11, 33717393: 33717393
5 CD59 NM_203330.2(CD59): c.146delA (p.Asp49Valfs) deletion Pathogenic rs587777149 GRCh37 Chromosome 11, 33738939: 33738939

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...

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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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