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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00108 | Autoimmune lymphoproliferative syndromes | ... gene (ALPS Type Ia) make up the majority of identified cases. However, other mutations, namely of the FasL gene (ALPS Type Ib) and the caspase 8 and 10 genes (ALPS Type II) are occasionally detected, whereas ... | Primary immunodeficiency |
(ALPS1A) FAS [HSA:355] [KO:K04390] (ALPS1B) FASLG [HSA:356] [KO:K04389] (ALPS2A) CASP10 [HSA:843] [KO:K04400] (ALPS2B) CASP8 [HSA:841] [KO:K04398] (ALPS3) PRKCD [HSA:5580] [KO:K06068] (ALPS4/RALD) NRAS [HSA:4893] [KO:K07828] (ALPS4/RALD) KRAS [HSA:3845] [KO:K07827] (ALPS5) CTLA4 [HSA:1493] [KO:K06538] |
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| H00394 | Measles | Measles is a highly contagious infectious disease caused by the measles virus, a morbillivirus in the Paramyxoviridae family of -ssRNA viruses. The disease may have existed for thousands of years. The ... | Viral infectious disease | hsa05162 Measles | |
| H00395 | Rubella | Rubella, also known as German measles, is an infection caused by the rubella virus in the Rubivirus genus, the Togaviridae family of +ssRNA viruses. Congenital rubella syndrome can occur in a developing ... | Viral infectious disease | ||
| H00998 | Alternating hemiplegia of childhood | ... attacks of hemiplegia lasting minutes to days, abnormal ocular movements, and autonomic disturbances. A characteristic feature of AHC is the disappearance of all abnormalities when the child falls asleep. | Nervous system disease |
(AHC1) ATP1A2 [HSA:477] [KO:K01539] (AHC2) ATP1A3 [HSA:478] [KO:K01539] |
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| H01028 |
Argininosuccinic aciduria Argininosuccinate lyase deficiency |
Arginosuccinicaciduria (ARGINSA) is an autosomal recessive disorder of the urea cycle that is caused by defects in argininosuccinate lyase. ARGINSA is characterized by mental and physical retardation, ... | Inherited metabolic disorder | ASL [HSA:435] [KO:K01755] | |
| H01398 | Primary hyperammonemia (Urea cycle disorders) | Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia in the blood, and may result in irreversible brain damage if not treated early and thoroughly. Hyperammonemia can be ... | Inherited metabolic disorder |
NAGS [HSA:162417] [KO:K11067] CPS1 [HSA:1373] [KO:K01948] OTC [HSA:5009] [KO:K00611] ASS1 [HSA:445] [KO:K01940] ASL [HSA:435] [KO:K01755] ARG1 [HSA:383] [KO:K01476] SLC25A15 [HSA:10166] [KO:K15101] SLC25A13 [HSA:10165] [KO:K15105] |
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| H01647 |
Subacute thyroiditis Subacute granulomatous thyroiditis De Quervain thyroiditis |
... upper respiratory tract infection and occurs concurrently with outbreaks of viral diseases (mumps, measles, influenza). However, the exact etiology is unknown. Clinically, it presents with acute onset of ... | Endocrine and metabolic disease | ||
| H01696 | Subacute sclerosing panencephalitis | ... childhood and early adolescence. It is caused by a persistent infection of the brain by an aberrant measles virus. Signs attributable to subacute sclerosing panencephalitis usually develop 4-8 years after ... | Neurodegenerative disease; Viral infectious disease | ||
| H01741 |
Autoinflammation lipodystrophy and dermatosis syndrome Proteasome associated autoinflammatory syndromes (PRAAS) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) Japanese autoinflammatory syndrome with lipodystrophy (JASL) |
... lipodystrophy (JMP) syndrome, Nakajo-Nishimura syndrome, Japanese autoinflammatory syndrome with lipodystrophy (JASL), and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) ... | Immune system disease | PSMB8 [HSA:5696] [KO:K02740] |
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