Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Alias:
Hlrcc
Multiple Cutaneous and Uterine Leiomyomata
Leiomyomatosis and Renal Cell Cancer
Lrcc
Mcul
Mcl
Hereditary Leiomyomatosis with Renal Carcinoma
Familial Leiomyomatosis and Renal Cell Cancer
Familial Leiomyomatosis with Renal Carcinoma
Multiple Cutaneous and Uterine Leiomyomas
Hereditary Multiple Cutaneous Leiomyomas
Familial Leiomyomatosis Cutis Et Uteri
Familial Multiple Cutaneous Leiomyomas
Hereditary Leiomyomatosis
Reed Syndrome
Mcul1
Multiple Cutaneous and Uterine Leiomyomata 1, with or Without Renal Cell Carcinoma
Multiple Cutaneous and Uterine Leiomyomata 1 with or Without Renal Cell Carcinoma
Hereditary Leiomyomatosis and Renal Cell Carcinoma
Leiomyomatosis and Renal Cell Cancer, Hereditary
Leiomyomatosis and Renal Cell Cancer Hereditary
Leiomyoma, Multiple Cutaneous
Multiple Cutaneous Leiomyomas
Multiple Cutaneous Leiomyoma
Leiomyoma Multiple Cutaneous
Reed's Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hereditary Leiomyomatosis and Renal Cell Cancer, also known as hlrcc, is related to renal cell carcinoma, papillary, 1 and fumarate hydratase deficiency, and has symptoms including flank pain An important gene associated with Hereditary Leiomyomatosis and Renal Cell Cancer is FH (Fumarate Hydratase), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and glycolysis (BioCyc). The drugs Acetylcholine and Atezolizumab have been mentioned in the context of this disorder. Affiliated tissues include kidney and skin, and related phenotypes are abnormality of the musculature and multiple cutaneous leiomyomas
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
--
5
49
55

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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