Disease

Arthrogryposis

About the Disease
Alkuraya-Kucinskas Syndrome, also known as alkkucs, is related to distal arthrogryposis and spastic paraplegia 39, autosomal recessive, and has symptoms including arthralgia, metatarsalgia and muscle cramp. An important gene associated with Alkuraya-Kucinskas Syndrome is BLTP1 (Bridge-Like Lipid Transfer Protein Family Member 1), and among its related pathways/superpathways are Vesicle-mediated transport and Rab regulation of trafficking. The drugs Tolvaptan and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and liver, and related phenotypes are pericardial effusion and seizure

Common Targets
MUSK | PIEZO2 | RIPK4 | LGI4 | SCYL2 | MYO18B | UNC50 | CHRNG | TNNI2 | VPS8 | FBN2 | GLE1 | BICD2 | HOXA11 | USP14 | MID1IP1 | MYL11 | ZC4H2 | ERCC2 | ADCY6 | TNNT3 | PI4KA | ADGRG6 | CUL3 | KLHL3 | MYH14 | MYH3 | ADAMTS15 | LMNA | SCN1A | ERGIC1 | SCN9A | TTN | MAGEL2 | LIFR | KLHL7 | ECEL1 | GLDN | ACTC1 | LMOD3 | MYBPC1 | MYH7B | COL6A3 | BEST3 | POLR3A | TPM2 | MYBPC2 | NALCN | TOR1A | CNTNAP1 | ERCC5 | COL25A1 | NEB

疾病靶点研报
Arthrogryposis

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