Progressive osseous heteroplasia

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Progressive osseous heteroplasia
Classification and external resources
OMIM	166350
DiseasesDB	34694

Progressive osseous heteroplasia is a cutaneous condition characterized by cutaneous or subcutaneous ossification.^[1]

It is associated with GNAS.^[2]

Contents

1 See also
2 References
3 External links
- 3.1 Official websites

References

^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
^ Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ (July 2008). "Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification". Am. J. Med. Genet. A 146A (14): 1788–96. doi:10.1002/ajmg.a.32346. PMC 2564798. PMID 18553568. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2564798.

External links

Official websites

Progressive Osseous Heteroplasia Association

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Deficiencies of intracellular signaling peptides and proteins

GTP-binding protein regulators

GTPase-activating protein	Neurofibromatosis type I · Watson syndrome · Tuberous sclerosis

Guanine nucleotide exchange factor	Marinesco–Sjögren syndrome · Aarskog–Scott syndrome · Juvenile primary lateral sclerosis · X-Linked mental retardation 1

G protein

Heterotrimeic	cAMP/GNAS1: Pseudopseudohypoparathyroidism · Progressive osseous heteroplasia · Pseudohypoparathyroidism · Albright's hereditary osteodystrophy · McCune–Albright syndrome CGL 2

Monomeric	RAS: HRAS (Costello syndrome) · KRAS (Noonan syndrome 3, KRAS Cardiofaciocutaneous syndrome) RAB: RAB7 (Charcot–Marie–Tooth disease) · RAB23 (Carpenter syndrome) · RAB27 (Griscelli syndrome type 2) RHO: RAC2 (Neutrophil immunodeficiency syndrome) ARF: SAR1B (Chylomicron retention disease) ARL13B (Joubert syndrome 8) · ARL6 (Bardet–Biedl syndrome 3)

MAP kinase

Cardiofaciocutaneous syndrome

Other kinase/phosphatase

Tyrosine kinase	BTK (X-linked agammaglobulinemia) · ZAP70 (ZAP70 deficiency)

Serine/threonine kinase	RPS6KA3 (Coffin-Lowry syndrome) · CHEK2 (Li-Fraumeni syndrome 2) · IKBKG (Incontinentia pigmenti) · STK11 (Peutz–Jeghers syndrome) · DMPK (Myotonic dystrophy 1) · ATR (Seckel syndrome 1) · GRK1 (Oguchi disease 2) · WNK4/WNK1 (Pseudohypoaldosteronism 2)

Tyrosine phosphatase	PTEN (Bannayan–Riley–Ruvalcaba syndrome, Lhermitte–Duclos disease, Cowden syndrome, Proteus-like syndrome) · MTM1 (X-linked myotubular myopathy) · PTPN11 (Noonan syndrome 1, LEOPARD syndrome, Metachondromatosis)

Signal transducing adaptor proteins

EDARADD (EDARADD Hypohidrotic ectodermal dysplasia) · SH3BP2 (Cherubism) · LDB3 (Zaspopathy)

Other

NF2 (Neurofibromatosis type II) · NOTCH3 (CADASIL) · PRKAR1A (Carney complex) · PRKAG2 (Wolff–Parkinson–White syndrome) · PRKCSH (PRKCSH Polycystic liver disease) · XIAP (XIAP2)

see also intracellular signaling peptides and proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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