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)

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

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

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

Seizures: does individual have seizures (please specify)
All options:

no = no seizures (-HP:0001250)
seizures = seizures (HP:0001250)
absence = absence seizures (HP:0002121)
absence atypical = atypical absence seizures (HP:0007270)
absence with eyelid myoclonia = absence seizures with eyelid myoclonia (HP:0011149)
absence with special features = absence seizures with special features (HP:0011148)
atonic (drop/astatic/hypotonic) = atonic seizures (drop, astatic, hypotonic) (HP:0010819)
bilateral convulsive = bilateral convulsive seizures (HP:0007334)
complex febrile = complex febrile seizures (HP:0011172)
dacrystic = dacrystic seizures (HP:0010820)
developmental stagnation = developmental stagnation at onset of seizures (HP:0006834)
dialeptic = dialeptic seizures (HP:0011146)
early onset absence = early onset absence seizures (HP:0011152)
EEG = abnormal EEG (HP:0002353)
febrile = febrile seizures (HP:0002373)
focal = focal seizures (HP:0007359)
focal afebrile = seizures, focal (partial), afebrile (HP:0040168)
focal autonomic = focal autonomic seizures (HP:0011154)
focal autonomic altered responsiveness = focal autonomic seizures with altered responsiveness (HP:0011155)
focal autonomic no altered responsiveness = focal autonomic seizures without altered responsiveness (HP:0011156)
focal clonic = focal clonic seizures (HP:0002266)
focal complex = complex focal seizures with impairment of consciousness or awareness (HP:0002384)
focal motor = focal motor seizures (HP:0011153)
focal myoclonic = focal myoclonic seizures (HP:0011166)
focal simple = focal seizures without impairment of consciousness or awareness (HP:0002349)
focal tonic = focal tonic seizures (HP:0011167)
gelastic = gelastic seizures (HP:0010821)
generalized = generalized seizures (HP:0002197)
generalized clonic = generalized clonic seizures (HP:0011169)
generalized myoclonic = generalized myoclonic seizures (HP:0002123)
generalized recurrent = generalized seizures, recurrent (HP:0002197)
generalized tonic = generalized tonic seizures (HP:0010818)
generalized tonic-clonic = seizures, generalized, tonic-clonic (HP:0002069)
generalized tonic-clonic photosensitive = seizures, tonic-clonic, photosensitive (HP:0007207)
generalized tonic-clonic awakening = generalized tonic-clonic seizures on awakening (HP:0007193)
hemiclonic (unilateral clonic) = hemiclonic seizures (unilateral clonic) (HP:0006813)
hemifacial = hemifacial seizures (HP:0007332)
hyperkinetic = hyperkinetic seizures (HP:0011174)
hypocalcemic = hypocalcemic seizures (HP:0002199)
hypoglycemic = hypoglycemic seizures (HP:0002173)
hypokinetic = hypokinetic seizures (HP:0011173)
maternal = maternal seizures (HP:0100622)
multifocal = multifocal seizures (HP:0031165)
myoclonic atonic = myoclonic atonic seizures (HP:0011170)
petit mal = petit mal seizures (HP:0011147)
photomyoclonic = photomyoclonic seizures (HP:0001327)
salaam = salaam seizures (HP:0011097)
simple febrile = simple febrile seizures (HP:0011171)
simple partial occipital = simple partial occipital seizures (HP:0011165)
symptomatic = symptomatic seizures (HP:0011145)
versive = versive seizures (HP:0011175)
? = unknown
n/a = not analysed

Intellectual_dis: individual has intellectual disability (intellectual disability (mental retardation), HP:0001249,mental retardation); please specify
All options:

yes = intellectual disability (HP:0001249, IQ below 70)
borderline = intellectual disability, borderline (HP:0006889, IQ 70-79)
mild = intellectual disability, mild (HP:0001256, IQ 50-69)
moderate = intellectual disability, moderate (HP:0002342, IQ 35-49)
profound = intellectual disability, profound (HP:0002187, IQ below 20)
severe = intellectual disability, severe (HP:0010864, IQ 20-34)
progressive = intellectual disability, progressive (HP:0006887)
no = no intellectual disability (IQ above 79, -)
? = unknown
n/a = not analysed

Protein: result from protein staining

Cognitive/Impairment: does the individual have cognitive impairment (HPO_0100543)
All options:

normal (IQ >80)
- = absent (normal)
+ = present
undefined = IQ <80
borderline = IQ 70-80
normal-mild
mild = IQ 50-70
mild-moderate
moderate
moderate-severe = IQ <50
severe
? = unknown
n/a = not analysed

Hypertension: individual has hypertension (please specify)
All options:

episodic = episodic hypertension (HP:0000875)
extrahepatic = extrahepatic portal hypertension (HP:0004941)
hypertension = hypertension (HP:0000822)
maternal = maternal hypertension (HP:0008071)
pheochromocytoma = pheochromocytoma ass. hypertension (HP:0002640)
portal = portal hypertension (HP:0001409)
pulmonary = pulmonary hypertension (HP:0002092)
renovascular = renovascular hypertension (HP:0100817)
no = no hypertension
? = unknown
n/a = not applicable

Development: individual has developmental (psychomotor) delay; please specify (global, cognitive, language/speech, mental, motor, social/emotional)
All options:

global = global developmental delay (+, HP:0001263)
global mild = mild global developmental delay (HP:0011342)
global moderate = moderate global developmental delay (HP:0011343)
global profound = profound global developmental delay (HP:0012736)
global severe = severe global developmental delay (HP:0011344)
motor = motor delay (HP:0001270)
no motor = no motor delay (HP:0001270)
motor fine = delay fine motor development (HP:0010862)
motor gross = delay gross motor development (HP:0002194)
neurodevelopmental = neurodevelopmental delay (HP:0012758)
regression = developmental regression (HP:0002376)
stagnation = developmental stagnation (HP:0007281)
stagnation seizures = developmental stagnation at onset seizures (HP:0006834)
social = delayed social development (HP:0012434)
speech/language = delayed speech/language development (HP:0000750)
no = no developmental delay (-)
? = unknown
n/a = not analysed

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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	Inheritance	Phenotype details	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Seizures	Intellectual_dis	Protein	Cognitive/Impairment	Hypertension	Development	Owner	Individual ID
0000093323	-	-	-	Familial, X-linked recessive	endocannabinoid system alterations	-	-	-	-	-	-	-	-	-	-	Casper Shyr	00117945
0000201775	definite tuberous sclerosis	angiofibromas facial	TSC2	Isolated (sporadic)	-	-	-	-	-	-	yes	-	-	-	-	Lang He	00263419
0000201776	definite tuberous sclerosis	angiofibromas facial	-	Isolated (sporadic)	-	-	-	-	-	seizures	yes	-	-	-	-	Lang He	00263420
0000201777	definite tuberous sclerosis	cortical tubers	-	Isolated (sporadic)	-	-	-	-	-	seizures	mild	-	-	-	-	Lang He	00263421
0000201778	definite tuberous sclerosis	angiofibromas facial	TSC2	Isolated (sporadic)	-	-	-	-	-	seizures	yes	-	-	-	-	Lang He	00263422
0000201780	definite tuberous sclerosis	angiofibromas	TSC2	Isolated (sporadic)	-	-	-	-	-	seizures	yes	-	-	-	-	Lang He	00263424
0000201782	definite tuberous sclerosis	angiofibromas	TSC2	Isolated (sporadic)	-	-	-	-	-	seizures	yes	-	-	-	-	Lang He	00263426
0000201783	definite tuberous sclerosis	cortical tubers	TSC2	Isolated (sporadic)	-	-	-	-	-	seizures	yes	-	-	-	-	Lang He	00263427
0000201786	definite tuberous sclerosis	-	-	Familial	-	-	-	-	-	-	-	-	-	-	-	Lang He	00263430
0000201787	definite tuberous sclerosis	-	TSC2	Isolated (sporadic)	-	-	-	-	-	-	-	-	-	-	-	Lang He	00263431
0000210145	developmental delay	-	-	Unknown	19m-developmental delay, facial dysmorphism, craniostenosis (corrected by plastic surgery), normal cardiac echocardiogram	-	-	-	-	-	-	-	-	-	-	Johan den Dunnen	00275524
0000231780	-	-	-	Unknown	-	-	-	-	-	-	-	-	-	-	-	Sha Hong	00305930
0000254811	-	-	-	Isolated (sporadic)	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	2y11m	-	-	-	-	-	-	-	-	-	Angela Morgan	00359556
0000254812	-	-	-	Isolated (sporadic)	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	3y2m	-	-	-	-	-	-	-	-	-	Angela Morgan	00359557
0000254813	-	-	-	Isolated (sporadic)	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	6y1m	-	-	-	-	-	-	-	-	-	Angela Morgan	00359558
0000254814	-	-	-	Isolated (sporadic)	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	7y6m	-	-	-	-	-	-	-	-	-	Angela Morgan	00359559
0000254815	-	-	-	Isolated (sporadic)	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	12y0m	-	-	-	-	-	-	-	-	-	Angela Morgan	00359560
0000254816	-	-	-	Isolated (sporadic)	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	13y0m	-	-	-	-	-	-	-	-	-	Angela Morgan	00359561
0000254817	-	-	-	Isolated (sporadic)	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	13y5m	-	-	-	-	-	-	-	-	-	Angela Morgan	00359562
0000259233	-	angiofibromas facial;cortical tubers	42y	Unknown	clinical TSC	-	-	-	-	no	n/a	-	n/a	-	?	Andreas Laner	00363895
0000310148	Tuberous sclerosis complex	angiomyolipomas;cortical tubers;epilepsy;nodules;rhabdomyoma cardiac;spasm	TSC	Isolated (sporadic)	-	-	-	-	-	-	mild	-	-	-	global mild	Clara Chung	00418682
0000342145	definite tuberous sclerosis	angiofibromas;angiomyolipomas;cortical tubers;epilepsy;hamartomas retinal;macules hypomelanotic;nodules;rhabdomyoma cardiac;spasm	TSC-2	Unknown	Patient also has Hypotonia (HP:0001252), Short stature (HP:0004322), and Dysmorphic features	-	-	-	-	-	moderate;severe	-	-	-	-	Rosemary Ekong	00445386
0000346613	-	autism;cysts renal	-	Isolated (sporadic)	Neurodevelopmental delay, Polycystic kidney dysplasia, Arachnoid cyst, Migraine without aura	13y	-	-	-	no	yes	-	-	-	global	Andreas Laner	00458176

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Global Variome shared LOVD

FGA (fibrinogen alpha chain)