Disease #01330 (FOP (fibrodysplasia ossificans progressiva (FOP)), OMIM:135100)

Official abbreviation FOP
Name fibrodysplasia ossificans progressiva (FOP)
OMIM ID 135100
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 75
Phenotype entries for this disease 75
Associated with 1 gene ACVR1
Associated tissues -
Disease features -
Remarks -


Individuals

75 entries on 1 page. Showing entries 1 - 75.
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00204342 - - - - - - - - 0 - - FOP, Healthy/Control - ACVR1 ACVR1 1 16 LOVD
00204343 - - - F - - - - 0 - - FOP Absence of great toes malformation; delayed onset of Heterotopic Ossificaion (HO); defined as FOP-variant; caucasian mother &Sikh father ACVR1 ACVR1 1 1 LOVD
00204344 - - - F - - - - 0 - - FOP Normal or minimal changes in the great toes ACVR1 ACVR1 1 1 LOVD
00204345 - - - F - - - - 0 - - FOP Monolateral malformation of the great toe; relatively late onset, de novo ACVR1 ACVR1 1 1 LOVD
00204346 Fam1;FamA PubMed: Feldman 2000, PubMed: Shore 2006 3-generation family, 4 affected (2F, 2M) F - United States - - 0 - - FOP postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes ACVR1 ACVR1 1 4 LOVD
00204347 - - - - - - - - 0 - - FOP Thumbs malformation ACVR1 ACVR1 1 2 LOVD
00204348 - - - - - - - - 0 - - FOP - ACVR1 ACVR1 1 6 LOVD
00204349 - - - - - - - - 0 - - FOP - ACVR1 ACVR1 1 3 LOVD
00204352 - - - F - El Salvador - - 0 - - FOP FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); reduction malformation of the digits; mild cognitive impairment ACVR1 ACVR1 1 1 LOVD
00204353 - - - - - - - - 0 - - FOP FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); reduction malformation of the digits; mild cognitive impairment ACVR1 ACVR1 1 2 LOVD
00204354 - - - - - - - - 0 - - FOP FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); reduction malformation of the digits; mild cognitive impairment ACVR1 ACVR1 1 1 LOVD
00204355 - - - - - - - - 0 - - FOP FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); reduction malformation of the digits; mild cognitive impairment ACVR1 ACVR1 1 3 LOVD
00204356 - - - - - - - - 0 - - FOP FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); Reduction malformation of the digits; mild cognitive impairment; diffuse scalp hair thinning ACVR1 ACVR1 1 2 LOVD
00204358 - - - - - - - - 0 - - FOP - ACVR1 ACVR1 1 6 LOVD
00204359 - - - F - - - - 0 - - FOP Normal great toes ACVR1 ACVR1 1 1 LOVD
00395244 - - - F no Japan - - - - - FOP - ACVR1 ACVR1 1 1 Kosei Hasegawa
00395245 Fam2;FamB PubMed: Feldman 2000, PubMed: Shore 2006 3-generation family, 5 affected (4F, M) - - United Kingdom (Great Britain) - - 0 - - FOP postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes ACVR1 ACVR1 1 5 Johan den Dunnen
00395246 Fam4;FamC PubMed: Feldman 2000, PubMed: Shore 2006 2-generation family, affected father/daughter - - United States - - 0 - - FOP postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes ACVR1 ACVR1 1 2 Johan den Dunnen
00395247 FamD PubMed: Shore 2006 2-generation family, affected father/2 daughters - - United States - - 0 - - FOP postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes ACVR1 ACVR1 1 3 Johan den Dunnen
00395248 FamE PubMed: Shore 2006 2-generation family, affected father/son/daughters - - United States - - 0 - - FOP postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes ACVR1 ACVR1 1 3 Johan den Dunnen
00395249 FamF PubMed: Shore 2006 family - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395250 FamG PubMed: Shore 2006 family - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395251 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395252 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395253 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395254 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395255 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395256 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395257 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395258 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395259 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395260 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395261 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395262 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395263 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395264 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395265 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395266 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395267 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395268 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395269 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395270 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395271 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395272 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395273 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395274 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395275 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395276 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395277 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395278 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395279 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395280 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395281 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395282 patient PubMed: Shore 2006 patient - - United States - - 0 - - FOP - ACVR1 ACVR1 1 1 Johan den Dunnen
00395283 patient PubMed: Lin 2006 2-generation family, 1 affected, unaffected non-carrier parent F - Taiwan - - 0 - - FOP see paper; ... ACVR1 ACVR1 1 1 Johan den Dunnen
00395284 FOP1 PubMed: Nakajima 2007 2-generation family, 1 affected, unaffected non-carrier parent M - Japan - - 0 - - FOP see paper; ..., abnormal great toe, short thumb ACVR1 ACVR1 1 1 Johan den Dunnen
00395285 FOP2 PubMed: Nakajima 2007 2-generation family, 1 affected, unaffected non-carrier parent M - Japan - - 0 - - FOP see paper; ..., scalp baldness, abnormal great toe ACVR1 ACVR1 1 1 Johan den Dunnen
00395286 FOP3 PubMed: Nakajima 2007 2-generation family, 1 affected, unaffected non-carrier parent F - Japan - - 0 - - FOP see paper; ..., short broad femoral neck, abnormal great toe, short thumb ACVR1 ACVR1 1 1 Johan den Dunnen
00395287 FOP1 PubMed: Bocciardi 2009 - M - Italy - - 0 - - FOP great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395288 FOP2 PubMed: Bocciardi 2009 - M - Italy - - 0 - - FOP 15m-onset ossification, great toe malformation, hydrocephalus secondary to posterior bulbar expansive lesion of unknown origin (surgical correction) ACVR1 ACVR1 1 1 Johan den Dunnen
00395289 FOP3 PubMed: Bocciardi 2009 - F - Italy - - 0 - - FOP 4y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395290 FOP4 PubMed: Bocciardi 2009 - F - Italy - - 0 - - FOP 20m-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395291 FOP5 PubMed: Bocciardi 2009 - M - Italy - - 0 - - FOP 8y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395292 FOP6 PubMed: Bocciardi 2009 - F - Italy - - 0 - - FOP 6y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395293 FOP7 PubMed: Bocciardi 2009 - F - Italy - - 0 - - FOP 11y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395294 FOP8 PubMed: Bocciardi 2009 - F - Italy - - 0 - - FOP 11y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395295 FOP9 PubMed: Bocciardi 2009 - M - Italy - - 0 - - FOP 3y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395296 FOP10 PubMed: Bocciardi 2009 - M - Italy - - 0 - - FOP 14y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395297 FOP11 PubMed: Bocciardi 2009 - M - Italy - - 0 - - FOP 6m-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395298 FOP12 PubMed: Bocciardi 2009 - F - Italy - - 0 - - FOP 4y-onset ossification, no great toe malformation ACVR1 ACVR1 2 1 Johan den Dunnen
00395299 FOP13 PubMed: Bocciardi 2009 - M - Italy - - 0 - - FOP 5y-onset ossification, great toe malformation, episodic seizures ACVR1 ACVR1 1 1 Johan den Dunnen
00395300 FOP14 PubMed: Bocciardi 2009 - M - Italy - - 0 - - FOP 4y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395301 FOP15 PubMed: Bocciardi 2009 - M - Italy - - 0 - - FOP 6y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395302 FOP16 PubMed: Bocciardi 2009 - F - Italy - - 0 - - FOP great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
00395303 FOP17 PubMed: Bocciardi 2009 - F - Italy - - 0 - - FOP 14y-onset ossification, great toe malformation ACVR1 ACVR1 1 1 Johan den Dunnen
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