LEOPARD SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: LENTIGINOSIS, CARDIOMYOPATHIC
MULTIPLE LENTIGINES SYNDROME
Number of Symptoms 51
OrphanetNr:
OMIM Id: 151100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Comment:

LEOPARD SYNDROME 1 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:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000122) Unilateral renal agenesis 24 / 7739
3
(HPO:0000047) Hypospadias 250 / 7739
4
(HPO:0008689) Bilateral cryptorchidism 38 / 7739
5
(HPO:0000054) Micropenis 257 / 7739
6
(HPO:0008724) Hypoplasia of the ovary 6 / 7739
7
(HPO:0000470) Short neck 345 / 7739
8
(HPO:0000465) Webbed neck 81 / 7739
9
(HPO:0000175) Cleft palate 349 / 7739
10
(HPO:0000303) Mandibular prognathia 179 / 7739
11
(HPO:0000242) Parietal bossing 11 / 7739
12
(HPO:0000286) Epicanthus 371 / 7739
13
(HPO:0000316) Hypertelorism 644 / 7739
14
(HPO:0000325) Triangular face 91 / 7739
15
(HPO:0004409) Hyposmia 16 / 7739
16
(HPO:0000486) Strabismus 576 / 7739
17
(HPO:0000508) Ptosis 459 / 7739
18
(HPO:0000411) Protruding ear 140 / 7739
19
(HPO:0000358) Posteriorly rotated ears 163 / 7739
20
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
21
(HPO:0000369) Low-set ears 372 / 7739
22
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
23
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
24
(HPO:0001256) Intellectual disability, mild 141 / 7739
25
(HPO:0000823) Delayed puberty 65 / 7739
26
(HPO:0003691) Scapular winging 51 / 7739
27
(HPO:0002996) Limited elbow movement 16 / 7739
28
(HPO:0003298) Spina bifida occulta 67 / 7739
29
(HPO:0002751) Kyphoscoliosis 131 / 7739
30
(HPO:0002967) Cubitus valgus 49 / 7739
31
(HPO:0000768) Pectus carinatum 136 / 7739
32
(HPO:0000767) Pectus excavatum 244 / 7739
33
(HPO:0000921) Missing ribs 62 / 7739
34
(HPO:0004322) Short stature 1232 / 7739
35
(HPO:0001510) Growth delay 295 / 7739
36
(HPO:0000957) Cafe-au-lait spot 84 / 7739
37
(HPO:0011710) Bundle branch block 14 / 7739
38
(HPO:0004971) Pulmonary artery hypoplasia 15 / 7739
39
(HPO:0001642) Pulmonic stenosis 89 / 7739
40
(HPO:0004415) Pulmonary artery stenosis 25 / 7739
41
(HPO:0001682) Subaortic stenosis 17 / 7739
42
(HPO:0001709) Third degree atrioventricular block 3 / 7739
43
(HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
44
(OMIM) Late menarche 1 / 7739
45
(OMIM) cafe-noir spots (trunk) 1 / 7739
46
(OMIM) Lentigines may be congenital or develop in first months to years of life 1 / 7739
47
(OMIM) 1-5mm dark lentigines (especially neck and trunk) 1 / 7739
48
(OMIM) Superior EKG axis (-60 degrees to -120 degrees) 1 / 7739
49
(OMIM) Lentigines may be absent 1 / 7739
50
(OMIM) Absent ovaries 2 / 7739
51
(OMIM) Broad flat nose 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness.

- Genetic ...

Clinical Description OMIM Walther et al. (1966) found asymptomatic cardiac changes associated with generalized lentigo in a mother and her son and daughter. The electrocardiogram in the son suggested myocardial infarction. The mother was shown by cardiac catheterization to have mild ...
Genotype-Phenotype Correlations OMIM Limongelli et al. (2008) studied 24 LEOPARD syndrome patients, 16 with mutations in the PTPN11 gene, 2 with mutations in the RAF1 gene, and 6 in whom no mutation had been found. Patients without PTPN11 mutations showed a ...
Molecular genetics OMIM Digilio et al. (2002) screened for mutations in the PTPN11 gene, known to be mutated in Noonan syndrome, in 9 patients with LEOPARD syndrome (including a mother-daughter pair) and 2 children with Noonan syndrome who had multiple cafe-au-lait ...