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Entry Name Description Category Pathway Gene
H02634 Deafness, cataract, impaired intellectual development, and polyneuropathy ... polyneuropathy (DCIDP) is a novel autosomal recessive syndrome with varying degrees of neurosensorial dysfunctions. DCIDP is caused by mutations in PSMC3 gene, encoding the proteasome ATPase subunit Rpt5 ... Nervous system disease PSMC3 [HSA:5702] [KO:K03065]
H02636 Sinoatrial node dysfunction and deafness Sinoatrial node dysfunction and deafness (SANDD) is a genetic disease characterized by a low heart beat and severe-to-profound deafness. A mutation of CACNA1D, encoding the Cav1.3 protein, has been identified ... Cardiovascular disease; Nervous system disease CACNA1D [HSA:776] [KO:K04851]
H02662 Sulfide quinone oxidoreductase deficiency ... ganglia. It has been reported that mutations in SQOR cause this disease. SQOR catabolize hydrogen sulfide. SQOR dysfunction can result in hydrogen sulfide accumulation that inhibits mitochondrial complex IV. Inherited metabolic disorder SQOR [HSA:58472] [KO:K22470]
H02686 Developmental delay with dysmorphic facies and dental anomalies ... dysmorphic facies and dental anomalies (DEFDA) is a neurodevelopmental disorder associated with SATB1 dysfunction. SATB1 encodes a transcription factor with crucial roles in development and maturation of ... Congenital malformation (DEFDA/DHDBV) SATB1 [HSA:6304] [KO:K23225]
H02695 Fibrosis, neurodegeneration, and cerebral angiomatosis ... cerebropulmonary symptoms, malabsorption, growth failure, recurrent infections, hemolytic anemia, liver dysfunction, and lung fibrosis that leads to respiratory failure and death. It has been reported that ... Congenital malformation NHLRC2 [HSA:374354]
H02698 Trichohepatoneurodevelopmental syndrome Trichohepatoneurodevelopmental syndrome (THNS) is a rare autosomal recessive disease characterized by woolly hair, liver dysfunction, dysmorphic features, hypotonia, and global developmental delay. It has been reported that ... Congenital malformation CCDC47 [HSA:57003] [KO:K24962]
H02705 Neurodevelopmental disorder with glutamatergic synapse dysfunction Glutamate is the major excitatory neurotransmitter in the central nervous system (CNS) and mediates its actions via activation of both ionotropic and metabotropic receptor families. Recent studies have ... Nervous system disease (NEDLIB) GRIA2 [HSA:2891] [KO:K05198]
(NEDSGA) GRIA4 [HSA:2893] [KO:K05200]
(NDHMSD/NDHMSR) GRIN1 [HSA:2902] [KO:K05208]
(NEDSHBA) GRM7 [HSA:2917] [KO:K04609]
(NEDHISB) GNAI1 [HSA:2770] [KO:K04630]
(NEDHYDF) GNB2 [HSA:2783] [KO:K04537]
H02727 Triokinase and FMN cyclase deficiency syndrome ... deficiency syndrome (TKFCD) is a multisystem disease variably including cataracts, developmental delay, liver dysfunction, cerebellar hypoplasia, and fatal cardiomyopathy with lactic acidosis. TKFC encodes a bifunctional ... Inherited metabolic disorder TKFC [HSA:26007] [KO:K00863]
H02753 Vertebral anomalies and variable endocrine and T-cell dysfunction Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) is a new multisystem malformation disorder caused by mutations in TBX2. Common clinical manifestations include congenital cardiac ... Congenital malformation TBX2 [HSA:6909] [KO:K10176]
121 to 129 of 129 Prev 1 2 3 4
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