IMD9
MCID: IMM066
MIFTS: 23
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Immunodeficiency 9 (IMD9)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Rare diseases
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MalaCards integrated aliases for Immunodeficiency 9:
Characteristics:Orphanet epidemiological data:59
combined immunodeficiency due to orai1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in the neonatal period early death may occur without bone marrow transplant HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Immune diseases
ICD10:
34
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UniProtKB/Swiss-Prot
:
75
Immunodeficiency 9: An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, and normal lymphocytes counts and serum immunoglobulin levels. In surviving patients ectodermal dysplasia with anhidrosis and non-progressive myopathy may be observed.
MalaCards based summary : Immunodeficiency 9, also known as immune dysfunction with t-cell inactivation due to calcium entry defect 1, is related to autoimmune lymphoproliferative syndrome, type iii. An important gene associated with Immunodeficiency 9 is ORAI1 (ORAI Calcium Release-Activated Calcium Modulator 1). Affiliated tissues include t cells, bone and bone marrow, and related phenotypes are muscular hypotonia and failure to thrive OMIM : 57 Immunodeficiency-9 is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel (summary by McCarl et al., 2009). (612782) |
Diseases related to Immunodeficiency 9 via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:612782Human phenotypes related to Immunodeficiency 9:32 (show all 14)
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MalaCards organs/tissues related to Immunodeficiency 9:41
T Cells,
Bone,
Bone Marrow
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UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 9:75
ClinVar genetic disease variations for Immunodeficiency 9:6 (show all 38)
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Search
GEO
for disease gene expression data for Immunodeficiency 9.
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