TUBEROUS SCLEROSIS 2

General Information (adopted from Orphanet):

Synonyms, Signs: TSC2 TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF, INCLUDED
Number of Symptoms 45
OrphanetNr:
OMIM Id: 613254
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0006772) Renal angiomyolipoma 4 / 7739
2
(HPO:0000107) Renal cyst 126 / 7739
3
(HPO:0005584) Renal cell carcinoma 13 / 7739
4
(HPO:0000169) Gingival fibromatosis 14 / 7739
5
(HPO:0009722) Dental enamel pits 5 / 7739
6
(HPO:0009720) Adenoma sebaceum 12 / 7739
7
(HPO:0009727) Achromatic retinal patches 3 / 7739
8
(HPO:0009592) Astrocytoma 15 / 7739
9
(HPO:0001250) Seizures 1245 / 7739
10
(HPO:0009717) Cortical tubers 4 / 7739
11
(HPO:0001328) Specific learning disability 114 / 7739
12
(HPO:0009716) Subependymal nodules 3 / 7739
13
(HPO:0009734) Optic glioma 7 / 7739
14
(HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
15
(HPO:0002888) Ependymoma 10 / 7739
16
(HPO:0000752) Hyperactivity 140 / 7739
17
(HPO:0012469) Infantile spasms 18 / 7739
18
(HPO:0001249) Intellectual disability 30 % [HPO:skoehler] 1089 / 7739
19
(HPO:0000717) Autism 108 / 7739
20
(HPO:0000826) Precocious puberty 42 / 7739
21
(HPO:0000821) Hypothyroidism 141 / 7739
22
(HPO:0010762) Chordoma 4 / 7739
23
(HPO:0002514) Cerebral calcification 89 / 7739
24
(HPO:0001482) Subcutaneous nodule 17 / 7739
25
(HPO:0009721) Shagreen patch 11 / 7739
26
(HPO:0009724) Subungual fibromas 3 / 7739
27
(HPO:0000957) Cafe-au-lait spot 84 / 7739
28
(HPO:0009729) Cardiac rhabdomyoma 5 / 7739
29
(HPO:0001716) Wolff-Parkinson-White syndrome 21 / 7739
30
(OMIM) Giant cell astrocytoma 2 / 7739
31
(OMIM) Intracranial calcification by x-ray or CT 2 / 7739
32
(OMIM) Multiple bilateral renal angiomyolipoma 2 / 7739
33
(OMIM) Increased frequency of premature centromere disjunction (PCD) in cultured fibroblasts, esp. chromosome 3 2 / 7739
34
(OMIM) Allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma 1 / 7739
35
(OMIM) Hamartomatous lesions of the brain 2 / 7739
36
(OMIM) Cystic areas of bone rarefaction, esp. phalanges 2 / 7739
37
(OMIM) Lymphangiomyomatosis, rare 2 / 7739
38
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
39
(OMIM) Benign tumors of the eye, heart, and lungs 2 / 7739
40
(OMIM) Myocardial rhabdomyoma 2 / 7739
41
(OMIM) Wolf-Parkinson-White syndrome 4 / 7739
42
(HPO:0003812) Phenotypic variability 129 / 7739
43
(OMIM) White ash leaf-shaped macules 2 / 7739
44
(OMIM) Retinal astrocytoma 2 / 7739
45
(OMIM) Tumors of the kidney (may progress to malignancy in less than 2%) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, ...
Clinical Description OMIM Kumar et al. (1995) reported a 2-year-old Caucasian female with tuberous sclerosis-2. At birth, she had a hypopigmented patch on her left ankle and multiple hypopigmented patches on her back and trunk. She later developed facial plaques on ...
Genotype-Phenotype Correlations OMIM Lewis et al. (2004) used validated tools measuring intellectual function, depression, anxiety, and autistic and behavioral disorders to study the relationships between genotype, seizures, mental retardation, and behaviors in a cohort of 92 patients with mutations in the ...
Molecular genetics OMIM Approximately 10 to 30% of tuberous sclerosis cases are due to TSC1 mutations, whereas the frequency of TSC2 mutations is consistently higher. TSC1 mutations account for 15 to 30% of familial cases and 10 to 15% of sporadic ...