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LEOPARD Syndrome (CUI C0175704) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0175704

NCI Thesaurus Code: C84820  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

Semantic Type: Disease or Syndrome

NCIt Definition: A genetic syndrome caused by mutations in the PTPN11 and RAF1 genes. It is characterized by the following abnormalities: multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities in genitalia, growth retardation, and deafness.

GARD Definition: LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the characteristic features associated with this condition: (L)entigines (multiple dark spots on the skin);
(E)lectrocardiographic conduction defects (abnormalities of the electrical activity of the heart); (O)cular hypertelorism (widely spaced eyes); (P)ulmonary stenosis (obstruction of the normal outflow of blood from the right ventricle of the heart); (A)bnormalities of the genitalia; (R)etarded growth resulting in short stature; and (D)eafness or hearing loss.

There are three types of LEOPARD syndrome, which are distinguished by their underlying genetic cause. LEOPARD syndrome type 1 is caused by mutations in the PTPN11 gene; type 2 is caused by mutations in the RAF1 gene; and type 3 is caused by mutations in the BRAF gene. Most cases are inherited from a parent in an autosomal dominant pattern. Less often, LEOPARD syndrome occurs in people without a family history of the condition due to a new gene mutation. - this information is from GARD/ORDR/NCATS.

NICHD Definition: A genetic syndrome caused by mutation(s) in the PTPN11, RAF1, or the BRAF genes, encoding tyrosine-protein phosphatase non-receptor type 11 and RAF proto-oncogene serine/threonine-protein kinase, and serine/threonine-protein kinase B-raf, respectively. Affected male individuals may exhibit unilateral or bilateral cryptorchidism, small penis, and/or hypospadias (urinary meatus on the dorsal side of the penis). Affected female individuals may have ovarian hypoplasia or agenesis. Primary hypogonadism in both female and male individuals may result in delayed puberty.

MSH Definition: An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.

Synonyms & Abbreviations: (see Synonym Details)
Cardio Cutaneous Syndrome
Cardio-Cutaneous Syndromes
Cardio-Cutaneous Syndrome
Cardiomyopathic Lentiginoses, Progressive
Cardiomyopathic Lentiginoses
Cardiomyopathic Lentiginosis, Progressive
Cardiomyopathic lentiginosis
Cardiomyopathic, Lentiginosis
Cardiomyopathics, Lentiginosis
Familial multiple lentigines syndrome
Generalised lentiginosis
Generalized lentiginosis (disorder)
Generalized lentiginosis
Lentigines Syndrome, Multiple
Lentigines Syndromes, Multiple
Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, Deafnes
Lentigines, Electrocardiographic Conduction Defects, 0cular Hypertelorism, Pulmonary Stenosis, Abnormalities of the Genitals, Retarded Growth, Deafness
Lentiginoses, Cardiomyopathic
Lentiginoses, Progressive Cardiomyopathic
Lentiginosis Cardiomyopathics
Lentiginosis Cardiomyopathic
Lentiginosis, Cardiomyopathic
Lentiginosis, Progressive Cardiomyopathic
Leopard Syndrome 1s
Leopard Syndrome 1
LEOPARD Syndrome [Disease/Finding]
Leopard syndrome lentiginosis
LEOPARD Syndrome, 1
LEOPARD Syndromes, 1
LEOPARD Syndromes
LEOPARD syndrome
LPRD1
Multiple lentigines syndrome (disorder)
Multiple Lentigines Syndromes
Multiple lentigines syndrome
Noonan Syndrome with Multiple Lentigines
Progressive Cardiomyopathic Lentiginoses
Progressive Cardiomyopathic Lentiginosis
Syndrome, Cardio-Cutaneous
Syndrome, LEOPARD
Syndrome, Multiple Lentigines
Syndromes, 1 LEOPARD
Syndromes, Cardio-Cutaneous
Syndromes, LEOPARD
Syndromes, Multiple Lentigines

External Source Codes: 
NCI Thesaurus Code C84820 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID X50Js SNOMEDCT_US
CTV3ID XUZrJ SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 0723-1051 CSP
DID 0944-7801 CSP
DID 1254-7727 CSP
DID 2328-1390 CSP
DISEASE_IDENTIFIER_ID 33190 GARD
DISEASE_IDENTIFIER_ID 7875 GARD
DISEASE_IDENTIFIER_ID 7876 GARD
DISEASE_IDENTIFIER_ID 7877 GARD
DX 20040101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EFFECTIVE_TIME 20030731 SNOMEDCT_US
FX D009456 MSH
FX D009634 MSH
GENELOCUS ,1,2,q,2,4,.,1, OMIM
GENESYMBOL JMML OMIM
GENESYMBOL METCDS OMIM
GENESYMBOL NS1 OMIM
GENESYMBOL PTP2C OMIM
GENESYMBOL PTPN11 OMIM
GENESYMBOL SHP2 OMIM
HAS_GARD_PAGE true GARD
HN 2004; use NEUROFIBROMATOSIS 1 2002 -2003 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-01-13T00:00:00 GARD
MDA 20030709 MSH
MESH_DEFINITION An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES. NDFRT
MESH_DUI D044542 NDFRT
MESH_NAME LEOPARD Syndrome NDFRT
MESH_UI M0374986 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20160701 MSH
MN C05.660.207.525 MSH
MN C14.240.400.695 MSH
MN C14.280.400.695 MSH
MN C14.280.484.716.525 MSH
MN C16.131.077.525 MSH
MN C16.131.240.400.685 MSH
MN C16.131.621.207.525 MSH
MN C17.800.621.430.530.550.525 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term LEOPARD Syndrome NCI
NUI N0000010971 NDFRT
PM 2004; see NEUROFIBROMATOSIS 1 2002 -2003 MSH
PRIMARY_PATH 10062901$10040834$10040789$10010331$Multiple lentigines syndrome$Skin and subcutaneous tissue disorders congenital NEC$Skin and subcutaneous tissue disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/1100/leopard-syndrome/resources/1 GARD
RXAUI 3186072 RXNORM
RXAUI 3186073 RXNORM
RXAUI 3200089 RXNORM
RXAUI 5039570 RXNORM
RXAUI 5039571 RXNORM
RXAUI 5930508 RXNORM
RXAUI 5930509 RXNORM
RXAUI 5931322 RXNORM
RXAUI 5931793 RXNORM
RXAUI 5932058 RXNORM
RXCUI 1027266 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 12.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_STATUS I MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 111306001 NDFRT
SNOMED_CID 403537000 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS L81.4 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~L81.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS L81.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q82.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~L81.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q82.8 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X50Js SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUZrJ SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T431506 MSH
TERMUI T532190 MSH
TERMUI T812080 MSH
TERMUI T825009 MSH
TERMUI T834015 MSH
TERMUI T834016 MSH
TERMUI T842084 MSH
TERMUI T842086 MSH
TERMUI T842087 MSH
TH GHR (2014) MSH
TH NLM (2002) MSH
TH NLM (2004) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0175704

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