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Disease LEOPARD Syndrome

Name LEOPARD Syndrome
Synonyms Cardio Cutaneous Syndrome | Cardio-Cutaneous Syndrome | Cardio-Cutaneous Syndromes | Cardiomyopathic Lentiginoses | Cardiomyopathic Lentiginoses, Progressive | Cardiomyopathic Lentiginosis | Cardiomyopathic, Lentiginosis | Cardiomyopathic Lentiginosis, Progressive | Cardiomyopathics, Lentiginosis | Lentigines Syndrome, Multiple | Lentigines Syndromes, Multiple | Lentiginoses, Cardiomyopathic | Lentiginoses, Progressive Cardiomyopathic | Lentiginosis Cardiomyopathic | Lentiginosis, Cardiomyopathic | Lentiginosis Cardiomyopathics | Lentiginosis, Progressive Cardiomyopathic | Leopard Syndrome 1 | LEOPARD Syndrome, 1 | Leopard Syndrome 1s | LEOPARD Syndromes | LEOPARD Syndromes, 1 | LPRD1 | Multiple Lentigines Syndrome | Multiple Lentigines Syndromes | 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
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.
Categories Cardiovascular disease | Congenital abnormality | Musculoskeletal disease | Skin disease
MeSH® ID D044542
OMIM® ID 151100
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Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references LEOPARD Syndrome Has associated chemicals Has associated genes
2. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Cardiovascular Abnormalities Has associated chemicals Has associated genes Has associated exposure references Heart Defects, Congenital Has associated chemicals Has associated genes Has associated exposure references LEOPARD Syndrome Has associated chemicals Has associated genes
3. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Heart Diseases Has associated chemicals Has associated genes Has associated exposure references Heart Defects, Congenital Has associated chemicals Has associated genes Has associated exposure references LEOPARD Syndrome Has associated chemicals Has associated genes
4. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Heart Diseases Has associated chemicals Has associated genes Has associated exposure references Heart Valve Diseases Has associated chemicals Has associated genes Has associated exposure references Pulmonary Valve Stenosis Has associated chemicals Has associated genes Has associated exposure references LEOPARD Syndrome Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes LEOPARD Syndrome Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Cardiovascular Abnormalities Has associated chemicals Has associated genes Has associated exposure references Heart Defects, Congenital Has associated chemicals Has associated genes Has associated exposure references LEOPARD Syndrome Has associated chemicals Has associated genes
7. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references LEOPARD Syndrome Has associated chemicals Has associated genes
8. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Pigmentation Disorders Has associated chemicals Has associated genes Has associated exposure references Hyperpigmentation Has associated chemicals Has associated genes Has associated exposure references Melanosis Has associated chemicals Has associated genes Has associated exposure references Lentigo Has associated chemicals Has associated genes LEOPARD Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

LEOPARD Syndrome Has associated chemicals Has associated genes
  LEOPARD syndrome, 2 Has associated chemicals Has associated genes
  LEOPARD SYNDROME 3 Has associated chemicals Has associated genes