Primary CD59 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: HACD59
CD59 DEFICIENCY
Number of Symptoms 19
OrphanetNr: 169464
OMIM Id: 612300
ICD-10: D84.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease
Rare constitutional hemolytic anemia due to a red cell membrane anomaly
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0004818) Paroxysmal nocturnal hemoglobinuria 1699124 IBIS 4 / 7739
2
 (HPO:0001284) Areflexia 198 / 7739
3
 (HPO:0002922) Increased CSF protein 27 / 7739
4
 (HPO:0001878) Hemolytic anemia 83 / 7739
5
 (HPO:0001252) Muscular hypotonia 990 / 7739
6
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
7
 (HPO:0003690) Limb muscle weakness 41 / 7739
8
 (HPO:0001324) Muscle weakness 859 / 7739
9
 (HPO:0010547) Muscle flaccidity 466 / 7739
10
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
11
 (OMIM) Muscle atrophy, progressive 2 / 7739
12
 (OMIM) Secondary axonal damage 1 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Limb paralysis 1 / 7739
15
 (OMIM) Chronic immune-mediated polyneuropathy 1 / 7739
16
 (OMIM) Sensory and motor demyelination seen on sural nerve biopsy 1 / 7739
17
 (OMIM) Hand and foot weakness 1 / 7739
18
 (OMIM) Limb muscle weakness, upper and lower 3 / 7739
19
 (OMIM) Absence of CD59 expression on red cells 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 Description OMIM Yamashina et al. (1990) found that the erythrocytes from a patient thought to have paroxysmal nocturnal hemoglobinuria (PNH; 300818) were devoid of HRF20 (CD59) and that those of his parents were deficient in the protein, compatible with the ...
Molecular genetics OMIM Motoyama et al. (1992) identified a homozygous single-nucleotide deletion in the CD59 gene (107271.0001) in the patient with CD59 deficiency and hemolytic anemia reported by Yamashina et al. (1990) and Ono et al. (1990).

In 5 ...