Phenotypes for disease #00189 (TSC2 (tuberous sclerosis, type 2), OMIM:613254)

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Diagnosis/Initial: initial diagnosis, before molecular testing

TSC/Features: select all features that apply
All options:

? = unknown
angiofibromas = angiofibromas (≥3, HP:0010615) or fibrous cephalic plaque
angiofibromas facial= facial angiofibromas (HP:0009720)
angiomyolipomas = angiomyolipomas (≥2, HP:0006772)
astrocytoma = subependymal giant cell astrocytoma (HP:0009718)
ADHD = attention deficit hyperactivity disorder (HP:0007018
autism = autism spectrum disorder (HP:0000729)
cysts renal = multiple renal cysts (HP:0000107)
cortical tubers = cortical tubers (HP:0009717)
dysplasias cortical = cortical dysplasias (HP:0002539, incl. tubers and cerebral white matter radial migration lines)
dysplasia renal= renal dysplasia (HP:0000110)
dental pits = dental enamel pits (>3, HP:0009722)
epilepsy = epilepsy (HP:0001250)
fibromas ungual = ungual fibromas (≥2, HP:0100804)
fibromas intraoral = intraoral fibromas (≥2)
hamartomas renal = renal hamartomas (HP:0008696)
hamartomas non-renal = non-renal hamartomas
hamartomas retinal = multiple retinal hamartomas (HP:0009594)
lymphangioleiomyomatosis = lymphangioleiomyomatosis (LAM, HP:0012798)
macules hypomelanotic = hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719)
nodules = subependymal nodules (HP:0009716)
renal cell carcinoma = renal cell carcinoma (HP:0005584)
retinal achromatic patch = retinal achromatic patch (HP:0009727)
rhabdomyoma cardiac = cardiac rhabdomyoma (HP:0009729)
sclerotic bone lesions = sclerotic bone lesions
Shagreen patch = Shagreen patch (HP:0009721)
skin lesions = 'confetti' skin lesions (HP:0007449)
spasm = infantile spasms (HP:0012469)

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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\|	Numeric	23\|24	all entries exactly matching 23 or 24
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<	Numeric	<23	all entries lower than 23
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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23 entries on 1 page. Showing entries 1 - 23.

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Phenotype ID	Diagnosis/Initial	TSC/Features	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000093323	-	-	-	endocannabinoid system alterations	Familial, X-linked recessive	-	-	-	-	-	Casper Shyr	00117945
0000201775	definite tuberous sclerosis	angiofibromas facial	TSC2	intellectual disability (HP:0001249)	Isolated (sporadic)	-	-	-	-	-	Lang He	00263419
0000201776	definite tuberous sclerosis	angiofibromas facial	-	intellectual disability (HP:0001249)	Isolated (sporadic)	-	-	-	-	-	Lang He	00263420
0000201777	definite tuberous sclerosis	cortical tubers	-	mild intellectual disability (HP:0001256)	Isolated (sporadic)	-	-	-	-	-	Lang He	00263421
0000201778	definite tuberous sclerosis	angiofibromas facial	TSC2	intellectual disability (HP:0001249)	Isolated (sporadic)	-	-	-	-	-	Lang He	00263422
0000201780	definite tuberous sclerosis	angiofibromas	TSC2	intellectual disability (HP:0001249)	Isolated (sporadic)	-	-	-	-	-	Lang He	00263424
0000201782	definite tuberous sclerosis	angiofibromas	TSC2	intellectual disability (HP:0001249)	Isolated (sporadic)	-	-	-	-	-	Lang He	00263426
0000201783	definite tuberous sclerosis	cortical tubers	TSC2	intellectual disability (HP:0001249)	Isolated (sporadic)	-	-	-	-	-	Lang He	00263427
0000201786	definite tuberous sclerosis	-	-	-	Familial	-	-	-	-	-	Lang He	00263430
0000201787	definite tuberous sclerosis	-	TSC2	-	Isolated (sporadic)	-	-	-	-	-	Lang He	00263431
0000210145	developmental delay	-	-	19m-developmental delay, facial dysmorphism, craniostenosis (corrected by plastic surgery), normal cardiac echocardiogram	Unknown	-	-	-	-	-	Johan den Dunnen	00275524
0000231780	-	-	-	-	Unknown	-	-	-	-	-	Sha Hong	00305930
0000254811	-	-	-	see paper; ..., feeding difficulties; speech therapy; fine motor ability Mod. Low (Vineland Adaptive Behaviour Scale); gross motor ability Mod. Low (Vineland Adaptive Behaviour Scale); receives occupational therapy, receives physiotherapy; no attention deficit hyperactivity disorder, no attention deficits; spoken words not yet achieved, short sentences not yet achieved, minimally verbal, childhood apraxia of speech, language ability low expressive, language ability moderate-low receptivelanguage ability adequate social	Isolated (sporadic)	2y11m	-	-	-	-	Angela Morgan	00359556
0000254812	-	-	-	see paper; ..., feeding difficulties; speech therapy; fine motor ability Mod. Low (Vineland Adaptive Behaviour Scale); gross motor ability Mod. Low (Vineland Adaptive Behaviour Scale); receives no occupational therapy, receives no physiotherapy; no attention deficit hyperactivity disorder, no attention deficits; 15-18m-spoken words, short sentences not yet achieved, minimally verbal, language ability low expressive, language ability moderate-low receptive, language ability moderate-low written, language ability moderate-low social	Isolated (sporadic)	3y2m	-	-	-	-	Angela Morgan	00359557
0000254813	-	-	-	see paper; ..., feeding difficulties; moderate intellectual disability; speech therapy; fine motor ability Mod. Low (Vineland Adaptive Behaviour Scale); gross motor ability Mod. Low (Vineland Adaptive Behaviour Scale); receives occupational therapy, receives physiotherapy; no attention deficit hyperactivity disorder, no attention deficits; 15-18m-spoken words, 4-5y-short sentences, phonological disorder, childhood apraxia of speech, language ability low expressive, language ability adequate receptive, language ability low written, language ability adequate social	Isolated (sporadic)	6y1m	-	-	-	-	Angela Morgan	00359558
0000254814	-	-	-	see paper; ..., feeding difficulties; mild-moderate intellectual disability; speech therapy; fine motor ability Mod. Low (Vineland Adaptive Behaviour Scale); gross motor ability Mod. Low (Vineland Adaptive Behaviour Scale); receives occupational therapy, receives physiotherapy; no attention deficit hyperactivity disorder, no attention deficits; >18m-spoken words, 4-5y-short sentences, phonological disorder, childhood apraxia of speech, dysfluencylanguage ability low expressive, language ability moderate-low receptive, language ability low written, language ability moderate-low social	Isolated (sporadic)	7y6m	-	-	-	-	Angela Morgan	00359559
0000254815	-	-	-	see paper; ..., feeding difficulties; mild intellectual disability; speech therapy; fine motor ability Mod. Low (Vineland Adaptive Behaviour Scale); gross motor ability Mod. Low (Vineland Adaptive Behaviour Scale); receives occupational therapy, receives physiotherapy; attention deficit hyperactivity disorde; 15-18m-spoken words, 6-7y-short sentences, articulation disorder, phonological disorder, childhood apraxia of speech, language ability adequate expressive, language ability moderate-low receptive, language ability low written, language ability adequate social	Isolated (sporadic)	12y0m	-	-	-	-	Angela Morgan	00359560
0000254816	-	-	-	see paper; ..., no feeding difficulties; moderate intellectual disability; speech therapy; fine motor ability; receives no occupational therapy, receives no physiotherapy; no attention deficit hyperactivity disorder, no attention deficits; spoken words not yet achieved, short sentences not yet achieved, minimally verbal, articulation disorder, childhood apraxia of speechlanguage ability severe expressive	Isolated (sporadic)	13y0m	-	-	-	-	Angela Morgan	00359561
0000254817	-	-	-	see paper; ..., no feeding difficulties; severe intellectual disability; speech therapy; fine motor ability Low (Vineland Adaptive Behaviour Scale); fine motor ability adequate; receives no occupational therapy, receives no physiotherapy; no attention deficit hyperactivity disorder, no attention deficits; spoken words not yet achieved, short sentences not yet achieved, minimally verbal, childhood apraxia of speech, language ability low expressive, language ability moderate-low receptivelanguage ability low written	Isolated (sporadic)	13y5m	-	-	-	-	Angela Morgan	00359562
0000259233	-	angiofibromas facial;cortical tubers	42y	clinical TSC	Unknown	-	-	-	-	-	Andreas Laner	00363895
0000310148	Tuberous sclerosis complex	angiomyolipomas;cortical tubers;epilepsy;nodules;rhabdomyoma cardiac;spasm	TSC	mild intellectual disability (HP:0001256)	Isolated (sporadic)	-	-	-	-	-	Clara Chung	00418682
0000342145	definite tuberous sclerosis	angiofibromas;angiomyolipomas;cortical tubers;epilepsy;hamartomas retinal;macules hypomelanotic;nodules;rhabdomyoma cardiac;spasm	TSC-2	hypotonia (HP:0001252), short stature (HP:0004322), dysmorphic features; moderate intellectual disability (HP:0002342)	Unknown	-	-	-	-	-	Rosemary Ekong	00445386
0000346613	-	autism;cysts renal	-	neurodevelopmental delay, polycystic kidney dysplasia, arachnoid cyst, migraine without aura; intellectual disability (HP:0001249)	Isolated (sporadic)	13y	-	-	-	-	Andreas Laner	00458176

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Global Variome shared LOVD

SBDS (Shwachman-Bodian-Diamond syndrome)