Tuberous sclerosis

General Information (adopted from Orphanet):

Synonyms, Signs: Tuberous sclerosis complex
Bourneville syndrome
Number of Symptoms 70
OrphanetNr: 805
OMIM Id: 191100
613254
ICD-10: Q85.1
UMLs: C0041341
MeSH: D014402
MedDRA: 10045138
Snomed: 7199000

Prevalence, inheritance and age of onset:

Prevalence: 8.8 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Eyebrow/eyelashes pigmentation anomaly
 -Rare eye disease
 -Rare genetic disease
Familial cystic renal disease
 -Rare genetic disease
 -Rare renal disease
Genetic mixed dermis disorder
 -Rare genetic disease
Inherited nervous system cancer-predisposing syndrome
 -Rare neurologic disease
Inherited renal cell cancer-predisposing syndrome
 -Rare genetic disease
 -Rare oncologic disease
 -Rare renal disease
Malformation syndrome with hamartosis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Mixed dermis disorder
 -Rare skin disease
Neurocutaneous syndrome with epilepsy
 -Rare genetic disease
 -Rare neurologic disease
Phakomatosis with eye involvement
 -Rare eye disease
 -Rare genetic disease
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease
Rare disease with autism
 -Rare genetic disease
 -Rare neurologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Rare skin tumor or hamartoma
 -Rare oncologic disease
 -Rare skin disease
Syndromic lymphedema
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0006772) Renal angiomyolipoma 4 / 7739
2
 (HPO:0000107) Renal cyst 126 / 7739
3
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
4
 (HPO:0005584) Renal cell carcinoma 13 / 7739
5
 (HPO:0009726) Renal neoplasm Occasional [Orphanet] 20 / 7739
6
 (HPO:0000113) Polycystic kidney dysplasia Occasional [Orphanet] 75 / 7739
7
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
8
 (HPO:0000230) Gingivitis Occasional [Orphanet] 31 / 7739
9
 (HPO:0009554) Projection of scalp hair onto lateral cheek 2 / 7739
10
 (HPO:0009722) Dental enamel pits 5 / 7739
11
 (HPO:0000269) Prominent occiput Very frequent [Orphanet] 43 / 7739
12
 (HPO:0000169) Gingival fibromatosis 14 / 7739
13
 (HPO:0009720) Adenoma sebaceum Very frequent [Orphanet] 12 / 7739
14
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
15
 (HPO:0009727) Achromatic retinal patches 3 / 7739
16
 (HPO:0009594) Retinal hamartoma Frequent [Orphanet] 5 / 7739
17
 (HPO:0009592) Astrocytoma 15 / 7739
18
 (HPO:0009716) Subependymal nodules 3 / 7739
19
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
20
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
21
 (HPO:0100006) Neoplasm of the central nervous system Very frequent [Orphanet] 34 / 7739
22
 (HPO:0001249) Intellectual disability 30 % [HPO:skoehler] 1089 / 7739
23
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
24
 (HPO:0009734) Optic glioma 7 / 7739
25
 (HPO:0001328) Specific learning disability 114 / 7739
26
 (HPO:0009717) Cortical tubers 4 / 7739
27
 (HPO:0002888) Ependymoma 10 / 7739
28
 (HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
29
 (HPO:0002516) Increased intracranial pressure Occasional [Orphanet] 47 / 7739
30
 (HPO:0000717) Autism 108 / 7739
31
 (HPO:0012469) Infantile spasms 18 / 7739
32
 (HPO:0000826) Precocious puberty Occasional [Orphanet] 42 / 7739
33
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
34
 (HPO:0100746) Macrodactyly of finger Occasional [Orphanet] 5 / 7739
35
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
36
 (HPO:0010762) Chordoma 4 / 7739
37
 (HPO:0001080) Biliary tract abnormality Occasional [Orphanet] 26 / 7739
38
 (HPO:0012090) Abnormality of pancreas morphology Occasional [Orphanet] 31 / 7739
39
 (HPO:0100761) Visceral angiomatosis Occasional [Orphanet] 21 / 7739
40
 (HPO:0100804) Ungual fibroma Frequent [Orphanet] 2 / 7739
41
 (HPO:0001031) Subcutaneous lipoma Frequent [Orphanet] 112 / 7739
42
 (HPO:0009719) Hypomelanotic macule 4 / 7739
43
 (HPO:0001482) Subcutaneous nodule 17 / 7739
44
 (HPO:0001052) Nevus flammeus Frequent [Orphanet] 88 / 7739
45
 (HPO:0009724) Subungual fibromas 3 / 7739
46
 (HPO:0000957) Cafe-au-lait spot Frequent [Orphanet] 84 / 7739
47
 (HPO:0001053) Hypopigmented skin patches Frequent [Orphanet] 80 / 7739
48
 (HPO:0009721) Shagreen patch 11 / 7739
49
 (HPO:0010609) Skin tags Very frequent [Orphanet] 12 / 7739
50
 (HPO:0100544) Neoplasm of the heart Occasional [Orphanet] 7 / 7739
51
 (HPO:0009729) Cardiac rhabdomyoma 5 / 7739
52
 (HPO:0002617) Aneurysm Occasional [Orphanet] 34 / 7739
53
 (HPO:0001716) Wolff-Parkinson-White syndrome 21 / 7739
54
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
55
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
56
 (HPO:0200024) Premature chromatid separation 3 / 7739
57
 (HPO:0012252) Abnormal respiratory system morphology Occasional [Orphanet] 14 / 7739
58
 (HPO:0002086) Abnormality of the respiratory system 17 / 7739
59
 (HPO:0002097) Emphysema Occasional [Orphanet] 40 / 7739
60
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
61
 (HPO:0002103) Abnormality of the pleura Occasional [Orphanet] 58 / 7739
62
 (HPO:0010614) Fibroma Very frequent [Orphanet] 10 / 7739
63
 (HPO:0100764) Lymphangioma Occasional [Orphanet] 11 / 7739
64
 (MedDRA:10025421) Macule Frequent [Orphanet] 55 / 7739
65
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
66
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
67
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
68
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
69
 (HPO:0003812) Phenotypic variability 129 / 7739
70
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: