LEOPARD SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr:
OMIM Id: 611554
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Comment:

LEOPARD SYNDROME 2 is a sub-type of Noonan syndrome with multiple lentigines. For symptom annotation please refer to Noonan syndrome with multiple lentigines.

Symptom Information: Sort by abundance 

1
 (HPO:0000303) Mandibular prognathia 17603483 IBIS 179 / 7739
2
 (HPO:0000268) Dolichocephaly 17603483 IBIS 144 / 7739
3
 (HPO:0000316) Hypertelorism 17603483 IBIS 644 / 7739
4
 (HPO:0000179) Thick lower lip vermilion 17603483 IBIS 72 / 7739
5
 (HPO:0000470) Short neck 17603483 IBIS 345 / 7739
6
 (HPO:0005280) Depressed nasal bridge 17603483 IBIS 381 / 7739
7
 (HPO:0000286) Epicanthus 17603483 IBIS 371 / 7739
8
 (HPO:0000465) Webbed neck 17603483 IBIS 81 / 7739
9
 (HPO:0000494) Downslanted palpebral fissures 17603483 IBIS 328 / 7739
10
 (HPO:0000369) Low-set ears 17603483 IBIS 372 / 7739
11
 (HPO:0002967) Cubitus valgus 17603483 IBIS 49 / 7739
12
 (HPO:0000766) Abnormality of the sternum 17603483 IBIS 31 / 7739
13
 (HPO:0004322) Short stature 17603483 IBIS 1232 / 7739
14
 (HPO:0000958) Dry skin 17603483 IBIS 152 / 7739
15
 (HPO:0002212) Curly hair 17603483 IBIS 21 / 7739
16
 (HPO:0001003) Multiple lentigines 17603483 IBIS 11 / 7739
17
 (HPO:0000957) Cafe-au-lait spot 17603483 IBIS 84 / 7739
18
 (HPO:0001639) Hypertrophic cardiomyopathy 17603483 IBIS 137 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Pandit et al. (2007) analyzed the RAF1 gene in 6 individuals with LEOPARD syndrome who did not have mutations in the PTPN11 gene, and they identified 2 different missense mutations in 2 unrelated patients, a 35-year-old woman and ...