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Disease:
Bank Contact:
 
Mim number
Name of disease
ICD identifier
ICD name
anatomic origin
type of cells
Nb of persons
Bank Contact
Last update Date
 
 
602544
Parkin, Park2
G20
Parkinson Disease
Integumentary System
Fibroblasts
2
garavaglia@istituto-besta.it
2010-08-26
 
 
608309
PTEN-Induced Putative Kinase1; PINK1
G20
Parkinson Disease
Integumentary System
Fibroblasts
1
garavaglia@istituto-besta.it
2010-08-26
 
 
600225
GTP CycloHydrolase I; GCH1
G24
Dystonia
Integumentary System
Fibroblasts
2
garavaglia@istituto-besta.it
2010-08-26
 
 
604149
Sarcoglycan Epsilon; SCGE
G24
Dystonia
Integumentary System
Fibroblasts
2
garavaglia@istituto-besta.it
2010-08-26
 
 
261640
6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE; PTS
G24
Dystonia
Integumentary System
Fibroblasts
1
garavaglia@istituto-besta.it
2010-08-26
 
 
182125
SEPIAPTERIN REDUCTASE; SPR
G24
Dystonia
Integumentary System
Fibroblasts
1
garavaglia@istituto-besta.it
2010-08-26
 
 
606157
Pantothenate Kinase2; Pank2
G23.0
Hallervorden-Spatz Disease
Integumentary System
Fibroblasts
14
garavaglia@istituto-besta.it
2010-08-26
 
 
182600
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A,
G 11.4
Strumpell-Lorrain syndrome
Blood
Lymphocytes
51
mposada@isciii.es
2010-08-26
 
 
33303350
Hereditary spastic paraplegia
G 11.4
Hereditary spastic paraplegia
Blood
Lymphocytes
49
mposada@isciii.es
2010-08-26
 
 
231000
GAUCHER DISEASE, TYPE III
Gaucher, disease
Blood
Lymphocytes
3
mposada@isciii.es
2010-08-26
 
 
176270
PRADER-WILLI SYNDROME; PWS
Q 87.1
Prader Willi syndrome
Blood
Lymphocytes
1
mposada@isciii.es
2010-08-26
 
 
151800
LIPOMATOSIS, FAMILIAL BENIGN CERVICAL
E 88.8
Lipomatosis
Blood
Lymphocytes
1
mposada@isciii.es
2010-08-26
 
 
109650
Behcet SYNDROME
M 35.2
Behcet's Disease
Blood
Lymphocytes
25
mposada@isciii.es
2010-08-26
 
 
Chronic Fatigue Syndrome
G 93.3
Chronic Fatigue Syndrome
Blood
Lymphocytes
1
mposada@isciii.es
2010-08-26
 
 
260400
SHWACHMAN-DIAMOND SYNDROME; SDS
D61.0
Schwasman syndrome
Blood
Lymphocytes
2
mposada@isciii.es
2010-08-26
 
 
106100
ANGIOEDEMA, HEREDITARY; HAE/ANGIONEUROTIC EDEMA
D 84.1
C1-inhibidor deficiency
Blood
Lymphocytes
2
mposada@isciii.es
2010-08-26
 
 
608710
WEGENER GRANULOMATOSIS
E 31.3
Wegener's Granulomatosis
Blood
Lymphocytes
1
mposada@isciii.es
2010-08-26
 
 
151620 (Lichen Planus Familiar)
Lichen Planus Folicularis
Plane Liquen
Blood
Lymphocytes
1
mposada@isciii.es
2010-08-26
 
 
607685
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES
D72.1
Hypereosinophilic syndrome
Blood
Lymphocytes
1
mposada@isciii.es
2010-08-26
 
 
107400
ALPHA-1-ANTITRYPSIN DEFICIENCY
E 88.0
Alpha-1-antitrypsin deficit
Blood
Lymphocytes
1
mposada@isciii.es
2010-08-26
 
 
Polymyosistis
M 33.2
Polymyosistis
Blood
Lymphocytes
3
mposada@isciii.es
2010-08-26
 
 
201400
ACTH DEFICIENCY
E 27.1
ACTH deficiency
Blood
Lymphocytes
1
mposada@isciii.es
2010-08-26
 
 
143100
HUNTINGTON DISEASE; HD
G 10
Huntington’s Disease
Blood
Lymphocytes
2
mposada@isciii.es
2010-08-26
 
 
160900
Myotonic dystrophy type 1
G 71.1
Steinert Disease
Blood
Lymphocytes
7
mposada@isciii.es
2010-08-26
 
 
137580
GILLES DE LA TOURETTE SYNDROME; GTS
F 95.2
Tourette Syndrome
Blood
Lymphocytes
1
mposada@isciii.es
2010-08-26
 
Back to catalogue overview
Last updated on 2010/08/26