Primary Hypertrophic Osteoarthropathy malady

NIH Rare Diseases: Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers and toes; thickening of the skin of the face (pachyderma); excessive sweating (hyperhidrosis); and new bone formation associated with joint pain. Other features may include congenital heart disease and delayed closure of fontanelles. This condition typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years. Both autosomal dominant and autosomal recessive inheritance has been reported. Mutations in the HPGD gene have been found in those with the autosomal recessive form of this condition.³⁰

MalaCards: Primary Hypertrophic Osteoarthropathy, also known as pachydermoperiostosis, is related to boomerang dysplasia and secondary hypertrophic osteoarthropathy. An important gene associated with Primary Hypertrophic Osteoarthropathy is HPGD (hydroxyprostaglandin dehydrogenase 15-(NAD)). The compounds nad+ and nadh have been mentioned in the context of this disorder. Affiliated tissues include heart and skin.

Wikipedia: A periosteal reaction is the formation of new bone in response to injury or other stimuli of the...⁴⁴ more...

Aliases & Descriptions:

primary hypertrophic osteoarthropathy 6 30 8 pachydermoperiostosis 30 32 pachydermoperiostosis syndrome (disorder) 6 pachydermoperiostosis of nail (disorder) 6 idiopathic hypertrophic osteoarthropathy 30

osteoarthropathy, primary hypertrophic 43 touraine solente gole syndrome 30 pachydermoperiostosis of nail 6 pdp 30

Diseases related to primary hypertrophic osteoarthropathy by text searches and GeneDecks gene sharing:

(show all 50)

id	Related Disease	Score	Top Affiliating Genes
1	boomerang dysplasia	12.3	HPGD, MATN3
2	secondary hypertrophic osteoarthropathy	11.9	SLCO2A1, MATN3
3	patent ductus arteriosus	11.8	SLCO2A1, HPGD
4	primary hypertrophic osteoarthropathy, autosomal recessive	8.4
5	reginato shiapachasse syndrome	7.6
6	malaria	7.4
7	insulin resistance	7.4
8	pyruvate dehydrogenase phosphatase deficiency	7.1
9	sarcosinemia	6.5
10	stomatitis	6.5
11	ataxia	6.5
12	tuberculosis	6.5
13	cystic fibrosis	6.5
14	dementia	6.5
15	fibrosis	6.5
16	homocysteine	6.5
17	hepatitis	6.5
18	hyperprolactinemia	6.5
19	hyperandrogenism	6.5
20	hyperglycemia	6.5
21	lactic acidosis	6.5
22	neurodegeneration	6.5
23	ovarian disease	6.5
24	phenylketonuria	6.5
25	primary biliary cirrhosis	6.5
26	alexia	5.9
27	cerebritis	5.9
28	frey syndrome	5.9
29	ischemia	5.9
30	leigh disease	5.9
31	lupus erythematosus	5.9
32	mumps	5.9
33	obesity	5.9
34	pasteurellosis	5.9
35	sepsis	5.9
36	myelofibrosis	5.8
37	hypoxia	5.0
38	lung cancer	5.0
39	liver disease	5.0
40	myocardial infarction	5.0
41	mycobacterium tuberculosis	5.0
42	neuroblastoma	5.0
43	pedophilia	5.0
44	pancreatitis	5.0
45	prostate cancer	5.0
46	prostatitis	5.0
47	squamous cell carcinoma	5.0
48	alzheimer's disease	5.0
49	carcinoma	5.0
50	diabetes mellitus	5.0

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to primary hypertrophic osteoarthropathy:

²²

Articles related to primary hypertrophic osteoarthropathy:

id	Title	Authors	Year	Affiliating Genes
1	Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. (22197487)	Zhang Z.... Liu Y.	2012	SLCO2A1
2	Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. (22331663)	Seifert W.... Horn D.	2012	SLCO2A1
3	Primary hypertrophic osteoarthropathy with digital cl ubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function m utations. (21426412)	Bergmann C.... Hamm H.	2011	HPGD
4	A novel homozygous splice site mutation in the HPGD g ene causes mild primary hypertrophic osteoarthropathy. (20406614)	Sinibaldi L.... Dallapiccola B.	2010	HPGD
5	Common and recurrent HPGD mutations in Caucasian indi viduals with primary hypertrophic osteoarthropathy. (20299379)	Diggle C.P.... Bonthron D.T.	2010	HPGD
6	Homozygous mutations in the 15-hydroxyprostaglandin d ehydrogenase gene in patients with primary hypertrophic osteoarthropathy. (19306095)	YA1ksel-Konuk B.... Tekin M.	2009	HPGD
7	Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. (18500342)	Uppal S.... Bonthron D.T.	2008	HPGD

Genes related to primary hypertrophic osteoarthropathy according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	HPGD	hydroxyprostaglandin dehydrogenase 15-(NAD)	11.0	Publications, Disorders
2	MATN3	matrilin 3	11.0
3	SLCO2A1	solute carrier organic anion transporter family, member 2A1	11.0	Publications, Disorders
4	PDP1	pyruvate dehyrogenase phosphatase catalytic subunit 1	11.0	Disorders

Compounds related to primary hypertrophic osteoarthropathy according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	nad+32	9.4	PDP1, HPGD
2	nadh32 9 18 9	12.4	HPGD, PDP1
3	(+-)-pgf2-alpha32	9.3	HPGD, SLCO2A1
4	prostaglandin f2alpha32	9.2	HPGD, SLCO2A1
5	pge132	9.2	HPGD, SLCO2A1
6	prostaglandin32	9.0	HPGD, SLCO2A1
7	indomethacin32 9 9	10.8	HPGD, SLCO2A1