Lhermitte-Duclos disease

General Information (adopted from Orphanet):

Synonyms, Signs: MULTIPLE HAMARTOMA SYNDROME
LHERMITTE-DUCLOS DISEASE, INCLUDED
MHAM DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDED
CPD6, INCLUDED
PROTEUS-LIKE SYNDROME, INCLUDED
LDD, INCLUDED
CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY, INCLUDED
CEREBELLOPARENCHYMAL DISORDER VI, INCLUDED
CWS1
CS
LDD
CD
Dysplastic gangliocytoma of the cerebellum
Number of Symptoms 69
OrphanetNr: 65285
OMIM Id: 158350
ICD-10: Q04.8
UMLs: C0391826
C1266181
MeSH:
MedDRA:
Snomed: 128791005
67944007

Prevalence, inheritance and age of onset:

Prevalence: 220 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with a cerebellar malformation as major feature
 -Rare genetic disease
Mixed neuronal-glial tumor
 -Rare neurologic disease
 -Rare oncologic disease
Syndrome with a cerebellar malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0100677) Vulval varicose vein 3 / 7739
2
(HPO:0000034) Hydrocele testis 18 / 7739
3
(HPO:0006740) Transitional cell carcinoma of the bladder 7 / 7739
4
(HPO:0100673) Vaginal hydrocele 8 / 7739
5
(HPO:0100615) Ovarian neoplasm 25 / 7739
6
(HPO:0000138) Ovarian cyst 25 / 7739
7
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
8
(HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
9
(HPO:0000160) Narrow mouth 188 / 7739
10
(HPO:0000221) Furrowed tongue 24 / 7739
11
(HPO:0000347) Micrognathia 426 / 7739
12
(HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
13
(HPO:0004481) Progressive macrocephaly 8 / 7739
14
(HPO:0000218) High palate 356 / 7739
15
(HPO:0001102) Angioid streaks of the retina 11 / 7739
16
(HPO:0000518) Cataract 454 / 7739
17
(HPO:0000545) Myopia 286 / 7739
18
(HPO:0000365) Hearing impairment 539 / 7739
19
(HPO:0002080) Intention tremor 44 / 7739
20
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
21
(HPO:0002516) Increased intracranial pressure Very frequent [Orphanet] 47 / 7739
22
(HPO:0002315) Headache Very frequent [Orphanet] 175 / 7739
23
(HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
24
(HPO:0100006) Neoplasm of the central nervous system Very frequent [Orphanet] 34 / 7739
25
(HPO:0002858) Meningioma 22 / 7739
26
(HPO:0003002) Breast carcinoma 23 / 7739
27
(HPO:0000854) Thyroid adenoma 6 / 7739
28
(HPO:0100646) Thyroiditis 11 / 7739
29
(HPO:0000821) Hypothyroidism 141 / 7739
30
(HPO:0000853) Goiter 39 / 7739
31
(HPO:0000836) Hyperthyroidism 25 / 7739
32
(HPO:0000767) Pectus excavatum 244 / 7739
33
(HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
34
(HPO:0002808) Kyphosis 289 / 7739
35
(HPO:0001829) Foot polydactyly Very frequent [Orphanet] 41 / 7739
36
(HPO:0002650) Scoliosis 705 / 7739
37
(HPO:0002253) Colonic diverticula 12 / 7739
38
(HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
39
(HPO:0004390) Hamartomatous polyposis 9 / 7739
40
(HPO:0000098) Tall stature Occasional [Orphanet] 74 / 7739
41
(HPO:0001031) Subcutaneous lipoma 112 / 7739
42
(HPO:0100026) Arteriovenous malformation 38 / 7739
43
(OMIM) Uterine adenocarcinoma 2 / 7739
44
(OMIM) Mental retardation, mild to moderate 33 / 7739
45
(OMIM) Mucosal neuromas 2 / 7739
46
(MedDRA:10066474) Thyroid cancer 6 / 7739
47
(OMIM) Multiple skin tags 2 / 7739
48
(OMIM) Multiple facial papules 2 / 7739
49
(OMIM) Enhanced insulin sensitivity 2 / 7739
50
(MedDRA:10024184) Leiomyoma 2 / 7739
51
(HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739
52
(OMIM) Gynecomastia in males 2 / 7739
53
(OMIM) Breast fibroadenomas 2 / 7739
54
(OMIM) Vulvar cysts 2 / 7739
55
(OMIM) Obesity, increased risk of 2 / 7739
56
(OMIM) 'Birdlike' facies (uncommon) 2 / 7739
57
(MedDRA:10068322) Oral papilloma 2 / 7739
58
(OMIM) Acral keratoses 2 / 7739
59
(OMIM) Intracranial developmental venous anomalies 2 / 7739
60
(OMIM) Virginal hyperplasia 2 / 7739
61
(HPO:0002536) Abnormal cortical gyration Very frequent [Orphanet] 72 / 7739
62
(MedDRA:10046900) Vaginal cyst 2 / 7739
63
(OMIM) Cerebellar gangliocytoma manifesting as seizure and tremor 2 / 7739
64
(OMIM) Facial trichilemmomas 2 / 7739
65
(OMIM) Lhermitte-Duclos disease 2 / 7739
66
(OMIM) Psychomotor delay, mild to moderate 2 / 7739
67
(MedDRA:10016621) Fibrocystic breast disease 2 / 7739
68
(HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
69
(OMIM) Cervical carcinoma 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome (BRRS; 153480) share clinical characteristics such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms. Furthermore, both conditions and several other distinctive phenotypes are caused by mutations ...
Diagnosis OMIM Pilarski and Eng (2004) reviewed the International Cowden Consortium operational criteria for the diagnosis of Cowden syndrome (2000 version) and the PTEN mutation spectrum in this and related disorders.

Pilarski et al. (2011) reported the clinical ...

Clinical Description OMIM Multiple hamartomatous lesions, especially of the skin, mucous membranes, breast and thyroid, are encountered. Verrucous skin lesions of the face and limbs, cobblestone-like papules of the gingiva and buccal mucosa, and multiple facial trichilemmomas are leading findings (Brownstein ...
Molecular genetics OMIM The chromosomal region containing the Cowden disease gene was known to contain a tumor suppressor gene (PTEN; 601728) that had been found to be mutated in sporadic brain, breast, and prostate cancer. Liaw et al. (1997) found germline ...
Population genetics OMIM Nelen et al. (1999) estimated that the prevalence of Cowden disease is 1 in 200,000 to 250,000 in the Dutch population.