Potocki-shaffer Syndrome malady

NIH Rare Diseases: Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). The characteristic features of Potocki-Shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, and problems with vision. The features of Potocki-Shaffer syndrome result from the loss of several genes on the short arm of chromosome 11.³⁰

MalaCards: Potocki-shaffer Syndrome, also known as proximal 11p deletion syndrome, is related to diabetes mellitus and exostoses. An important gene associated with Potocki-shaffer Syndrome is ALX4 (ALX homeobox 4). Affiliated tissues include brain.

Genetics Home Reference: Potocki-Shaffer syndrome is a disorder that affects development of the bones, brain, and other organs. Most people with this condition have multiple non-cancerous (benign) bone tumors called exostoses. In rare instances, these tumors become cancerous. People with Potocki-Shaffer syndrome also have enlarged openings in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). These abnormal openings form extra "soft spots" on the head, in addition to the two that newborns normally have.¹⁷

potocki-shaffer syndrome 7 30 16 17 33 32 43 proximal 11p deletion syndrome 30 17 11p11.2 deletion 30 16 chromosome 11p11.2 deletion syndrome 17

deletion of chromosome 11p11.2 30 deletion abnormality 43 p11pds 17 pss 30

Diseases related to potocki-shaffer syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 126)

id	Related Disease	Score	Top Affiliating Genes
1	diabetes mellitus	12.3	ALX4, EXT2
2	exostoses	12.2	ALX4, EXT2
3	coronary heart disease	12.0	ALX4, EXT2
4	1p36 deletion syndrome	8.8
5	carcinoma	8.3
6	chromosome 3p deletion	8.3
7	16p11.2 deletion syndrome	8.0
8	cri-du-chat syndrome	8.0
9	chromosome 1p36 deletion syndrome	7.7
10	chromosome 9p deletion	7.6
11	wolf-hirschhorn syndrome	7.6
12	renal cell carcinoma	7.4
13	chromosome 17p deletion	7.4
14	lymphocytic leukemia	7.4
15	wagr syndrome	7.4
16	smith-magenis syndrome	7.1
17	chronic lymphocytic leukemia	7.1
18	chromosome 12p deletion	7.1
19	chromosome 16p13.3 deletion syndrome	7.1
20	chromosome 18p deletion syndrome	7.1
21	chromosome 8p deletion	7.1
22	acute lymphoblastic leukemia	6.8
23	chromosome 1p deletion	6.8
24	chromosome 4p deletion	6.8
25	chromosome 7p deletion	6.8
26	chromosome 8p23.1 deletion	6.8
27	lymphoblastic leukemia	6.8
28	sjogren's syndrome	6.5
29	systemic scleroderma	6.5
30	wilms tumor	6.5
31	aniridia	6.5
32	cervicitis	6.5
33	cervical carcinoma	6.5
34	cystinuria	6.5
35	hepatocellular carcinoma	6.5
36	leukemia	6.5
37	lung cancer	6.5
38	melanoma	6.5
39	meningioma	6.5
40	nonpapillary renal cell carcinoma	6.5
41	neuroblastoma	6.5
42	chromosome 2p16.1-p15 deletion syndrome	6.5
43	colorectal cancer	6.5
44	18p deletion syndrome	6.5
45	chromosome 10p deletion	6.5
46	chromosome 11p deletion	6.5
47	chromosome 16p deletion	6.5
48	chromosome 19p deletion	6.5
49	chromosome 20p deletion	6.5
50	chromosome 2p deletion	6.5

Approved drugs:

Drug clinical trials:

Genetic tests related to potocki-shaffer syndrome:

id	Genetic test	Affiliating Genes
1	Potocki-shaffer Syndrome clinical/research

MalaCards organs/tissues related to potocki-shaffer syndrome:

²²

Articles related to potocki-shaffer syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. (15852040)	Wakui K.... Shaffer L.G.	2005	ALX4
2	Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. (11903336)	Hall C.R.... Hecht J.T.	2001	EXT2, ALX4

Genes related to potocki-shaffer syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ALX4	ALX homeobox 4	11.1	Publications, Summaries
2	PSS	Potocki-Shaffer syndrome	11.1	Disorders, Aliases & Descriptions
3	EXT2	exostosin 2	11.0	Publications

Molecular functions related to potocki-shaffer syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein heterodimerization activity	GO:046982	9.3	ALX4, EXT2