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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00290 | Aicardi-Goutieres syndrome | ... progressive neurological dysfunction resulting in a failure of development of expected physical and social skills. AGS presents in infancy and is lethal in ~40% of cases. It can be caused by mutations in the ... | Immune system disease |
(AGS1) TREX1 [HSA:11277] [KO:K10790] (AGS2) RNASEH2B [HSA:79621] [KO:K10744] (AGS3) RNASEH2C [HSA:84153] [KO:K10745] (AGS4) RNASEH2A [HSA:10535] [KO:K10743] (AGS5) SAMHD1 [HSA:25939] [KO:K22544] (AGS6) ADAR [HSA:103] [KO:K12968] (AGS7) IFIH1 [HSA:64135] [KO:K12647] (AGS8) LSM11 [HSA:134353] [KO:K25592] (AGS9) RNU7-1 [HSA:100147744] |
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| H00860 | Benign hereditary chorea | ... dysmorphic features, broadly normal intellectual development with no regression or loss of cognitive skills, absence of other significant neurologic disturbances, and, with the exception of chorea, normal ... | Nervous system disease | TTF1 [HSA:7270] [KO:K15225] | |
| H00925 |
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency HSD10 mitochondrial disease |
... deficiency is a recently described X-linked inborn error in the metabolism of isoleucine. This disorder is characterized by normal early development followed by progressive loss of mental and motor skills. | Inherited metabolic disorder | HSD17B10 [HSA:3028] [KO:K08683] | |
| H01022 | Diseases of the tricarboxylic acid cycle | ... highly variable and can include Leigh syndrome, leukodystrophy, cardiomyopathy and mental and motor skill deterioration. The alpha-ketoglutarate dehydrogenase deficiency is extremely rare and characterised ... | Inherited metabolic disorder |
(FMRD) FH [HSA:2271] [KO:K01679] (MC2DN1) SDHA [HSA:6389] [KO:K00234] (OGDHD) OGDH [HSA:4967] [KO:K00164] |
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| H01349 |
Methacrylic aciduria 3-Hydroxy-isobutyryl-CoA hydrolase deficiency |
... HIBCH is a mitochondrial enzyme of valine catabolism. Patients demonstrated delayed development of motor skills, hypotonia, initial poor feeding, and a deterioration in neurological function during the first ... | Inherited metabolic disorder, Mitochondrial disease | HIBCH [HSA:26275] [KO:K05605] | |
| H02275 |
Batten disease Spielmeyer-Vogt disease Juvenile neuronal ceroid lipofuscinoses |
... with vision loss, followed by seizures and progressive neurodegeneration, robbing children of motor skills, speech and cognition, and eventually leading to death in the second or third decade of life. ... | Inherited metabolic disorder, Lysosomal disease | CLN3 [HSA:1201] [KO:K12389] | |
| H02614 | Snijders Blok-Campeau syndrome | ... characterized by intellectual disability, developmental delays, macrocephaly, impaired speech and language skills, and characteristic facial features. It has been reported that mutations in CHD3 cause this disease ... | Congenital malformation | CHD3 [HSA:1107] [KO:K11642] |
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