TUBEROUS SCLEROSIS 1

General Information (adopted from Orphanet):

Synonyms, Signs: TUBEROUS SCLEROSIS COMPLEX
TUBEROSE SCLEROSIS
TSC
TSC1
TS
Number of Symptoms 39
OrphanetNr:
OMIM Id: 191100
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:0000107) Renal cyst 126 / 7739
2
(HPO:0005584) Renal cell carcinoma 13 / 7739
3
(HPO:0009722) Dental enamel pits 5 / 7739
4
(HPO:0000169) Gingival fibromatosis 14 / 7739
5
(HPO:0009720) Adenoma sebaceum 12 / 7739
6
(HPO:0009727) Achromatic retinal patches 3 / 7739
7
(HPO:0009717) Cortical tubers 4 / 7739
8
(HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
9
(HPO:0009716) Subependymal nodules 3 / 7739
10
(HPO:0001250) Seizures 1245 / 7739
11
(HPO:0001328) Specific learning disability 114 / 7739
12
(HPO:0000752) Hyperactivity 140 / 7739
13
(HPO:0009734) Optic glioma 7 / 7739
14
(HPO:0012469) Infantile spasms 18 / 7739
15
(HPO:0000717) Autism 108 / 7739
16
(HPO:0001249) Intellectual disability 1089 / 7739
17
(HPO:0002888) Ependymoma 10 / 7739
18
(HPO:0000821) Hypothyroidism 141 / 7739
19
(HPO:0000826) Precocious puberty 42 / 7739
20
(HPO:0010762) Chordoma 4 / 7739
21
(HPO:0009721) Shagreen patch 11 / 7739
22
(HPO:0001482) Subcutaneous nodule 17 / 7739
23
(HPO:0000957) Cafe-au-lait spot 84 / 7739
24
(HPO:0009724) Subungual fibromas 3 / 7739
25
(HPO:0009729) Cardiac rhabdomyoma 5 / 7739
26
(OMIM) Giant cell astrocytoma 2 / 7739
27
(OMIM) Tumors of the kidney (may progress to malignancy in less than 2%) 2 / 7739
28
(OMIM) Wolf-Parkinson-White syndrome 4 / 7739
29
(OMIM) White ash leaf-shaped macules 2 / 7739
30
(OMIM) Retinal astrocytoma 2 / 7739
31
(OMIM) Loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas 1 / 7739
32
(OMIM) Increased frequency of premature centromere disjunction (PCD) in cultured fibroblasts, esp. chromosome 3 2 / 7739
33
(OMIM) Multiple bilateral renal angiomyolipoma 2 / 7739
34
(OMIM) Hamartomatous lesions of the brain 2 / 7739
35
(OMIM) Cystic areas of bone rarefaction, esp. phalanges 2 / 7739
36
(OMIM) Myocardial rhabdomyoma 2 / 7739
37
(OMIM) Lymphangiomyomatosis, rare 2 / 7739
38
(OMIM) Benign tumors of the eye, heart, and lungs 2 / 7739
39
(OMIM) Intracranial calcification by x-ray or CT 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. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal ...
Clinical Description OMIM - Skin Manifestations

Fitzpatrick et al. (1968) described white macules shaped like the leaf of a mountain ash in patients with tuberous sclerosis. The white macules, which may be evident only under Wood light, are present ...

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 ...
Population genetics OMIM The reported birth rate of tuberous sclerosis is 1 in 6,000. Frequency estimates for the disorder in children under 10 range from 1 in 12,000 to 1 in 14,000 (Curatolo et al., 2008).

Hunt and Lindenbaum ...