Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Hereditary leiomyomatosis and renal cell cancer

Synonyms

Familial leiomyomatosis cutis et uteri

Reed syndrome

Hereditary multiple cutaneous leiomyomas

HLRCC

Hereditary leiomyomatosis

Hereditary leiomyomatosis with renal carcinoma

MCUL

Multiple cutaneous and uterine leiomyomas

Familial multiple cutaneous leiomyomas

Familial leiomyomatosis and renal cell cancer

Familial leiomyomatosis with renal carcinoma

Definitions

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.

ID

http://www.orpha.net/ORDO/Orphanet_523

alternative_term

Familial leiomyomatosis cutis et uteri

Reed syndrome

Hereditary multiple cutaneous leiomyomas

HLRCC

Hereditary leiomyomatosis

Hereditary leiomyomatosis with renal carcinoma

MCUL

Multiple cutaneous and uterine leiomyomas

Familial multiple cutaneous leiomyomas

Familial leiomyomatosis and renal cell cancer

Familial leiomyomatosis with renal carcinoma

definition

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=523

has_age_of_onset

Adolescent

Adult

Elderly

has_inheritance

Autosomal dominant

hasDbXref

OMIM:150800

UMLS:C1708350

ICD-11:2C90.Y

MeSH:C535516

ICD-10:C64

label

Hereditary leiomyomatosis and renal cell cancer

notation

ORPHA:523

part_of

http://www.orpha.net/ORDO/Orphanet_79386

http://www.orpha.net/ORDO/Orphanet_183487

http://www.orpha.net/ORDO/Orphanet_319328

http://www.orpha.net/ORDO/Orphanet_589746

prefixIRI

ORDO:Orphanet_523

prefLabel

Hereditary leiomyomatosis and renal cell cancer

present_in

Worldwide AND has_cases/families_value : 200.0 (Case)

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_79386

http://www.orpha.net/ORDO/Orphanet_183487

http://www.orpha.net/ORDO/Orphanet_319328

http://www.orpha.net/ORDO/Orphanet_589746

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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