Disease #00189 (TSC2 (tuberous sclerosis, type 2), OMIM:613254)

Official abbreviation TSC2
Name tuberous sclerosis, type 2
OMIM ID 613254
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 20
Phenotype entries for this disease 23
Associated with 2 genes IFNG, TSC2
Associated tissues -
Disease features -
Remarks -
Date created 2013-09-05 22:00:33 +02:00 (CEST)
Date last edited 2022-08-19 09:49:18 +02:00 (CEST)


Individuals

20 entries on 1 page. Showing entries 1 - 20.
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00117945 - - - M no - - - - - - TSC2 endocannabinoid system alterations FAAH2 FAAH2 1 1 Casper Shyr
00228189 - - - - - - - - - - - TSC2 - TSC2 TSC2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00271536 - - - - - - - - - - - TSC2 - TSC2 TSC2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00275524 Pat2 PubMed: Xu 2018 - - - China - - - - - TSC2 19m-developmental delay, facial dysmorphism, craniostenosis (corrected by plastic surgery), normal cardiac echocardiogram DMD DMD 1 1 Johan den Dunnen
00305930 28 - - M - China - - - - - TSC2 - TSC2 TSC2 1 1 Sha Hong
00324567 P13 - - M - Poland - - - - - TSC2 - TSC1, TSC2 TSC2 1 1 Katarzyna Bąbol-Pokora
00324568 P16 - - F - Poland - - - - - TSC2 - TSC1, TSC2 TSC2 1 1 Katarzyna Bąbol-Pokora
00324569 P21 - - F - Poland - - - - - TSC2 - TSC1, TSC2 TSC2 1 1 Katarzyna Bąbol-Pokora
00331604 - - - F - China Asian >35y - - - TSC2 - TSC2 TSC2 1 1 Chenchen Zhang
00359556 Pat3 Morgan 2021, submitted - F - Australia - - - - - TSC2 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 SETBP1 SETBP1 1 1 Angela Morgan
00359557 Pat4 Morgan 2021, submitted - M - Australia - - - - - TSC2 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 SETBP1 SETBP1 1 1 Angela Morgan
00359558 Pat10 Morgan 2021, submitted - M - Australia - - - - - TSC2 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 SETBP1 SETBP1 1 1 Angela Morgan
00359559 Pat15 Morgan 2021, submitted - M - Australia - - - - - TSC2 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 SETBP1 SETBP1 1 1 Angela Morgan
00359560 Pat22 Morgan 2021, submitted - F - Australia - - - - - TSC2 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 SETBP1 SETBP1 1 1 Angela Morgan
00359561 Pat24 Morgan 2021, submitted - M - Australia - - - - - TSC2 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 SETBP1 SETBP1 1 1 Angela Morgan
00359562 Pat25 Morgan 2021, submitted - M - Australia - - - - - TSC2 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 SETBP1 SETBP1 1 1 Angela Morgan
00363895 179432 - - F - Germany - - - - - TSC2 clinical TSC TSC2 TSC2 1 1 Andreas Laner
00445386 proband PubMed: Barbosa 2024 patient with TSC and KBG syndrome F - - - - - - - KBGS, TSC2 Patient also has Hypotonia (HP:0001252), Short stature (HP:0004322), and Dysmorphic features - TSC2 1 1 Tatiana Maroilley
00458175 312582 - - F no Germany - - - - - PKD2, TSC2 neurodevelopmental delay, polycystic kidney dysplasia, arachnoid cyst, migraine without aura; arachnoid cysts (HP:0100702); renal cysts (HP:0000107) PKD2 - - 1 Andreas Laner
00458176 312582 - - F - Germany - - - - - PKD1, TSC2 kidney disease, chronic (HP:0012622); neurodevelopmental delay, polycystic kidney dysplasia, Arachnoid cyst, migraine without aura; renal cysts (HP:0000107); arachnoid cysts (HP:0100702), Neurodevelopmental delay, Polycystic kidney dysplasia, Arachnoid cyst, Migraine without aura PKD1, TSC2 PKD1, TSC2 2 1 Andreas Laner
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