Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Blood diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Other immunodeficiencies

Defects in the complement system

Orphanet: ⁵⁹

Rare neurological diseases

Rare haematological diseases

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 612300

Orphanet ⁵⁹ ORPHA169464

ICD10 via Orphanet ³⁴ D84.1

MedGen ⁴² C2676767

MeSH ⁴⁴ D000745

SNOMED-CT via HPO ⁶⁹ 258211005 349006 37280007 more

UMLS ⁷³ C2676767

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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.

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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
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:

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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 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

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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

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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

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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

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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 )	Klemann C....Korinthenberg R.	2018
2	Neonatal-Onset Recurrent Guillain-BarrAc Syndrome-Like Disease: Clues for Inherited CD59 Deficiency. ( 28800659 )	Ardicli D....Topaloglu H.	2017
3	Early-onset chronic axonal neuropathy, strokes, and hemolysis: Inherited CD59 deficiency. ( 25716358 )	Haliloglu G....Topaloglu H.	2015
4	C1q nephropathy and isolated CD59 deficiency manifesting as necrotizing crescentic glomerulonephritis: A rare association of two diseases. ( 26586072 )	Gupta R....Dinda A.K.	2015
5	Devastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiency. ( 26233519 )	Ben-Zeev B....Mevorach D.	2015
6	Targeted therapy with eculizumab for inherited CD59 deficiency. ( 24382084 )	HAPchsmann B....Schrezenmeier H.	2014
7	CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy. ( 23149847 )	Nevo Y....Elpeleg O.	2013
8	[Acute promyelocytic leukemia with CD59 deficiency]. ( 21129240 )	Wei H....Wang J.X.	2010
9	CD55 and CD59 deficiency in transplant patient populations: possible association with paroxysmal nocturnal hemoglobinuria-like symptoms in Campath-treated patients. ( 16908271 )	Ruiz P....Tzakis A.	2006
10	Complement regulator CD59 deficiency fails to augment susceptibility to actively induced experimental autoimmune myasthenia gravis. ( 17056125 )	TA1zA1n E....Christadoss P.	2006
11	Protease-modified erythrocytes: CD55 and CD59 deficient PNH-like cells. ( 7539403 )	Yuan F.F....Fletcher A.	1995
12	Acute promyelocytic leukemia with CD59 deficiency. ( 7692187 )	Seya T....Masaoka T.	1993

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

Genes related to Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CD59	CD59 Molecule (CD59 Blood Group)	Protein Coding	1650	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹	1382994 23149847 24382084

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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

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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.

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

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

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