IMD54
MCID: IMM177
MIFTS: 23
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Immunodeficiency 54 (IMD54)
Categories:
Blood diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases
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MalaCards integrated aliases for Immunodeficiency 54:
Characteristics:Orphanet epidemiological data:59
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
growth retardation onset in utero glucocorticoid deficiency occurs in mid-childhood founder effect in irish traveler population HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Infectious diseases Anatomical: Blood diseases Immune diseases Endocrine diseases
ICD10:
34
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OMIM
:
57
Immunodeficiency-54 is an autosomal recessive primary immunodeficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer (NK) cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer. Laboratory studies of patient cells showed a DNA repair defect (summary by Gineau et al., 2012). (609981)
MalaCards based summary : Immunodeficiency 54, is also known as natural killer cell and glucocorticoid deficiency with dna repair defect. An important gene associated with Immunodeficiency 54 is MCM4 (Minichromosome Maintenance Complex Component 4). Affiliated tissues include nk cells and lung, and related phenotypes are global developmental delay and splenomegaly UniProtKB/Swiss-Prot : 75 Immunodeficiency 54: An autosomal recessive disorder characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer. |
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:609981Human phenotypes related to Immunodeficiency 54:32 (show all 12)
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MalaCards organs/tissues related to Immunodeficiency 54:41
Nk Cells,
Lung
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ClinVar genetic disease variations for Immunodeficiency 54:6 (show top 50) (show all 137)
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Search
GEO
for disease gene expression data for Immunodeficiency 54.
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