MCID: HML042
MIFTS: 28

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

Categories: Genetic diseases, Immune diseases, Neuronal diseases, Blood 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 53
Cd59 Deficiency 53 71 28 13 69
Hacd59 53 71
Cd59-Mediated Hemolytic Anemia with or Without Immune-Mediated Polyneuropathy 71
Hemolytic Anemia, Cd59-Mediated, with or Without Polyneuropathy 71
Primary Cd59 Deficiency 55

Characteristics:

Orphanet epidemiological data:

55
primary cd59 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
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:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 612300
Orphanet 55 ORPHA169464
ICD10 via Orphanet 33 D84.1
MedGen 39 C2676767
MeSH 41 D000745
UMLS 69 C2676767

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

OMIM : 53 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 skeletal muscle atrophy, hemolytic anemia and areflexia. 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.

UniProtKB/Swiss-Prot : 71 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 myasthenia gravis 9.7
4 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
5 glomerulonephritis 9.7
6 paroxysmal nocturnal hemoglobinuria 9.7
7 crescentic glomerulonephritis 9.7
8 polyneuropathy 9.7
9 retinitis 9.7
10 retinal disease 9.7
11 hemoglobinuria 9.7
12 axonal neuropathy 9.7
13 neuropathy 9.7
14 c1q nephropathy 9.7
15 myasthenia gravis congenital 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:

53
Muscle Soft Tissue:
hand and foot weakness
hypotonia
muscle weakness, upper and lower limbs
muscle atrophy, progressive

Neurologic Peripheral Nervous System:
areflexia
limb weakness
chronic immune-mediated polyneuropathy
limb paralysis
sensory and motor demyelination seen on sural nerve biopsy
more
Hematology:
hemolytic anemia

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


Clinical features from OMIM:

612300

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

31 (show all 7)
# 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 generalized hypotonia 31 HP:0001290
6 increased csf protein 31 HP:0002922
7 paroxysmal nocturnal hemoglobinuria 31 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 28 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:

38
Skeletal Muscle

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

71
# 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.146delA (p.Asp49Valfs) deletion Pathogenic rs587777149 GRCh38 Chromosome 11, 33717393: 33717393

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
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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