Disorder "Susceptibility To Human Immunodeficiency Virus Type 1"
Found 2 records
Disorder information
Disorder name:
Susceptibility To Human Immunodeficiency Virus Type 1
Disoder ID:
OMIM_609423
OMIM entry:
Definition:
A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has material basis in Human immunodeficiency virus 1 or has material basis in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
2
Effect type:
Penetrance(2)
Modifier effect:
Altered incidence(1)
,Prevention of disease(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| KIR3DL1 | KIR3DL1:c.202A>G(p.Ile47Val) | Penetrance | Altered incidence | Assessment of genotype–phenotype associations | The variant (rs643347A/G) is a significant modifier of B*57 protection.more | more |
| CCR5 | CCR5:32-base-pairdeletion | Penetrance | Prevention of disease | Chisq=15.1, P<0.0005 | Resistance to HIV1 infection and progressionmore | more |
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