Noonan Syndrome 1 malady

NIH Rare Diseases: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Characteristics of the syndrome include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the specific, mutated gene that causes the syndrome in an affected individual. It is typically inherited in an autosomal dominant manner, although in many individuals with Noonan syndrome, the mutation occurs for the first time and neither of the parents has the condition.³⁰

MalaCards: Noonan Syndrome 1, also known as noonan syndrome, is related to noonan syndrome and hepatitis. An important gene associated with Noonan Syndrome 1 is PTPN11 (protein tyrosine phosphatase, non-receptor type 11). Affiliated tissues include heart.

OMIM: 163950

noonan syndrome 1 30 33 noonan syndrome 43

ns1 30

Disease types for noonan syndrome family:

noonan syndrome 1	noonan syndrome 2
noonan syndrome 3	noonan syndrome 4
noonan syndrome 5	noonan syndrome 6

Diseases related to noonan syndrome 1 by text searches and GeneDecks gene sharing:

(show top 50)    (show all 174)

id	Related Disease	Score	Top Affiliating Genes
1	noonan syndrome	12.4
2	hepatitis	10.9
3	hepatitis c	10.8
4	influenza	10.6
5	neurofibromatosis-noonan syndrome	8.7
6	leukemia	8.5
7	noonan syndrome 6	8.4
8	noonan syndrome 2	8.4
9	noonan syndrome 3	8.4
10	noonan syndrome 4	8.4
11	noonan syndrome 5	8.4
12	neurofibromatosis	8.2
13	encephalitis	7.9
14	braf-related noonan syndrome	7.8
15	kras-related noonan syndrome	7.8
16	nras-related noonan syndrome	7.8
17	raf1-related noonan syndrome	7.8
18	sos1-related noonan syndrome	7.8
19	ptpn11-related noonan syndrome	7.5
20	saldino-noonan syndrome	7.5
21	hepatocellular carcinoma	7.4
22	japanese encephalitis	7.4
23	avian influenza	7.2
24	short stature	7.1
25	was-related disorders	7.1
26	costello syndrome	7.1
27	juvenile myelomonocytic leukemia	7.1
28	leopard syndrome	7.1
29	map2k1-related noonan syndrome	7.1
30	myelomonocytic leukemia	7.1
31	noonan-like/multiple giant cell lesion syndrome	7.1
32	noonan syndrome-like disorder	7.1
33	alzheimer's disease	7.1
34	lung cancer	7.1
35	neuronitis	7.1
36	prostate cancer	7.1
37	myeloma	6.9
38	pancreatitis	6.6
39	rheumatoid arthritis	6.6
40	arthritis	6.6
41	acute myeloid leukemia	6.6
42	cardiomyopathy	6.6
43	myeloid leukemia	6.6
44	noonan/ costello/ leopard/ cardiofaciocutaneous syndrome(s) (ras/mapk pathway) multi-gene panels	6.6
45	colon cancer	6.3
46	cerebritis	6.3
47	esophageal cancer	6.3
48	liver disease	6.3
49	neuroblastoma	6.3
50	osteoporosis	6.0

Clinical features from OMIM: 163950

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to noonan syndrome 1:

²²

Genes related to noonan syndrome 1 according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	PTPN11	protein tyrosine phosphatase, non-receptor type 11	11.1	Disorders, Aliases & Descriptions