Disease #01510

Official abbreviation KNDLRS
Name syndrome, Kindler's (KNDLRS)
OMIM ID 173650
Human Phenotype Ontology Project (HPO) HPO
Inheritance AR
Individuals reported having this disease 169
Phenotype entries for this disease 163
Associated with 1 gene FERMT1
Associated tissues -
Disease features -
Remarks -


Individuals

169 entries on 2 pages. Showing entries 1 - 100.
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00247519 Pat3 PubMed: Has 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - 0 - - KNDLRS - FERMT1 FERMT1 2 1 -
00247520 patient PubMed: de Almeida 2013 - F no Brazil mulato - 0 - - KNDLRS Skin fragility; blisters; mucosal involvement FERMT1 FERMT1 2 1 Hiram de Almeida
00247521 Pat4 PubMed: Has 2006 - F - Italy Calabria - 0 - - KNDLRS - FERMT1 FERMT1 2 1 -
00247522 Fam2 PubMed: Fuchs-Telem 2014 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Israel Druze - 0 - - KNDLRS skin fragility and blistering located over areas exposed to pressure; atrophic and hyperpigmented skin areas, mainly involving sun‐exposed sites; severe dental caries;anal stenosis and phimosis (treated with recurrent catheterization) FERMT1 FERMT1 1 4 -
00247523 Pat2 PubMed: Has 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - 0 - - KNDLRS see paper; ... FERMT1 FERMT1 1 1 -
00247524 patient PubMed: Zhuo 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes China - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247525 Pat3 PubMed: Has 2006 - F - Italy Calabria - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247526 Pat1 PubMed: Has 2006 - F - Italy Calabria - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247527 Pat2 PubMed: Has 2006 - F - Italy Calabria - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247528 - - - M - Italy - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247529 Pat3 PubMed: Has 2011 - M - Turkey - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247530 Pat7 PubMed: Has 2011 - M - Turkey - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247531 Pat2 PubMed: Has 2008 - F - Bulgaria - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247532 Pat1 PubMed: Has 2008 - M - Bulgaria - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247533 Pat3 PubMed: Has 2008 - F - Bulgaria - 58y 0 - - KNDLRS Two squamous cell carcinoma of the hands and squamous cell carcinoma of the lower lip FERMT1 FERMT1 1 1 -
00247534 Pat1 PubMed: Has 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes India - - 0 - - KNDLRS - FERMT1 FERMT1 1 2 -
00247535 - PubMed: Sadler 2006 - F - Turkey - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247536 - PubMed: Techanukul 2011 - M - India - - 0 - - KNDLRS - FERMT1 FERMT1 2 1 -
00247537 Pat6 PubMed: Has 2006 - F - Italy Sardinia - 0 - - KNDLRS Squamous cell carcinoma of the lower lip FERMT1 FERMT1 1 1 -
00247538 Fam1 PubMed: Fuchs-Telem 2014 4-generation family, 6 affected (F, 5M), unaffected heterozygous carrier parents/relatives F;M yes Israel Arab Moslem - 0 - - KNDLRS childhood atrophic and fragile hypo‐ and hyperpigmented skin, brachydactyly, syndactyly, nail dystrophy, dental caries; PatIII4 37y-invasive transitional cell carcinoma bladder FERMT1 FERMT1 1 6 -
00247539 - PubMed: Techanukul 2011 - F - Australia - - 0 - - KNDLRS - FERMT1 FERMT1 2 1 -
00247540 - - - F - Italy - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247541 - PubMed: Mansur 2007 - M - Turkey - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247542 - - - M ? Turkey - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247543 - PubMed: Siegel 2003 - - - Jordan - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247544 - PubMed: Siegel 2003 - - - Jordan - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247545 Pat51 PubMed: Has 2011 - M - France - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247546 - PubMed: Has 2009 - M - Switzerland - - 0 - - KNDLRS Actinic keratoses FERMT1 FERMT1 1 1 -
00247547 - PubMed: Has 2009 - M - - - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247548 - Has ., Dermatology, 2010 - F - Switzerland - - 0 - - KNDLRS Squamous cell carcinoma of the hand FERMT1 FERMT1 1 1 -
00247549 - PubMed: Lai-Cheong 2009 PubMed: Emanuel 2006 - M - United States Hispanic - 0 - - KNDLRS Squamous carcinoma of the left hand, recurrence, amputation FERMT1 FERMT1 1 1 -
00247550 Fam7 Journal: Youssefian 2015, PubMed: Youssefian 2015 4-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M yes Iran - - 0 - - KNDLRS Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; Constipation; Severe desquamative gingivitis ; Acrokeratosis FERMT1 FERMT1 1 3 Leila Youssefian
00247551 - PubMed: Almeida 2013 - F - Brazil - - 0 - - KNDLRS widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. FERMT1 FERMT1 2 1 -
00247552 - - - F - Belgium - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247553 - PubMed: Lai-Cheong 2007 - F - India - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247554 Pat9 PubMed: Has 2006 - M - Italy - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247555 - PubMed: Siegel 2003 - - - Italy - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247556 - PubMed: Techanukul 2011 - F - India - - 0 - - KNDLRS - FERMT1 FERMT1 2 1 -
00247557 - - - F - Germany - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247558 FamAPat9 PubMed: Jobard 2003 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F - Algeria - - 0 - - KNDLRS - FERMT1 FERMT1 1 3 -
00247559 FamAPat5 PubMed: Jobard 2003 older brother M - Algeria - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247560 FamAPat4 PubMed: Jobard 2003 older sister F - Algeria - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247561 - PubMed: Has 2009 - M yes Germany - - 0 - - KNDLRS squamous cell carcioma of the lip at the age of 28y; Revertant mosaicism FERMT1 FERMT1 1 1 -
00247562 FamEPat3 PubMed: Jobard 2003 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - Algeria - - 0 - - KNDLRS - FERMT1 FERMT1 1 2 -
00247563 FamEPat2 PubMed: Jobard 2003 older brother M - Algeria - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247564 - PubMed: Lai-Cheong 2007 - M - India - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247565 - PubMed: Lai-Cheong 2007 - F - India - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247566 Fam1 Journal: Youssefian 2015, PubMed: Youssefian 2015 6-generation family, 9 affected (3F, 6M), unaffected heterozygous carrier parents/relatives F yes Iran - - 0 - - KNDLRS Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; FERMT1 FERMT1 1 9 Leila Youssefian
00247567 - PubMed: Siegel 2003 - - - Pakistan - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247568 Fam4 Journal: Youssefian 2015, PubMed: Youssefian 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F yes Iran - - 0 - - KNDLRS Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; Constipation; Acrokeratosis; FERMT1 FERMT1 1 3 Leila Youssefian
00247569 - - - F - Turkey - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247570 - - - F - Albania - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247571 - PubMed: Kern 2007 - F - Albania - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247572 - PubMed: Mansur 2007 - F - Albania - 24y 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247573 - PubMed: Techanukul 2011 - M - India - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247574 - PubMed: Techanukul 2011 - M - Yugoslavia Serbian - 0 - - KNDLRS Squamous cell carcinoma of the upper lip at 43y and squamous cell carcinoma of the penis at 45y FERMT1 FERMT1 1 1 -
00247575 - PubMed: Techanukul 2011 - M - Yugoslavia Serbian - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247576 - PubMed: Martignago 2007 - M - Brazil Italian ? 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247577 - PubMed: Martignago 2007 - F - Brazil Italian - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247578 - PubMed: Martignago 2007 - F - Brazil Italian - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247579 - PubMed: Martignago 2007 - M - Brazil Italian - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247580 - PubMed: Martignago 2007 - M - Brazil Italian - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247581 - PubMed: Martignago 2007 - M - Brazil Italian - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247582 - PubMed: Martignago 2007 - F - Brazil Italian ? 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247583 - PubMed: Martignago 2007 - F - Brazil Italian - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247584 - - - M - - - - 0 - - KNDLRS - FERMT1 FERMT1 2 1 -
00247585 - - - M yes United Kingdom (Great Britain) - - 0 - - KNDLRS Revertant mosaicism FERMT1 FERMT1 1 1 -
00247586 - - - F - Pakistan - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247587 - - - M - Pakistan - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247588 - - - F - Pakistan - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247589 - - - M - Pakistan - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247590 - - - F yes Pakistan - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247591 - - - F yes Pakistan - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247592 - - - M yes Pakistan - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247593 - - - F ? Romania - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247594 Fam11 Journal: Youssefian 2015, PubMed: Youssefian 2015 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Iran - - 0 - - KNDLRS Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; Severe desquamative gingivitis ; Acrokeratosis; FERMT1 FERMT1 1 1 Leila Youssefian
00247595 - PubMed: Techanukul 2011 - F - Israel Jewish-Kurdish 42y 0 - - KNDLRS Squamous cell carcinoma of the hard palate at the age of 34y FERMT1 FERMT1 1 3 -
00247596 FamCPat4 PubMed: Jobard 2003 sister F - Senegal - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247597 FamCPat3 PubMed: Jobard 2003 brother M - Senegal - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247598 FamCPat5 PubMed: Jobard 2003 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F - Senegal - - 0 - - KNDLRS - FERMT1 FERMT1 1 3 -
00247599 - - - F - Canada - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247600 - Siegel , 2003; Penagos , 2004 - F - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247601 - Siegel , 2003; Penagos , 2004 - F - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247602 - Siegel , 2003; Penagos , 2004 - F - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247603 - Siegel , 2003; Penagos , 2004 - M - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247604 - Siegel , 2003; Penagos , 2004 - F - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247605 - Siegel , 2003; Penagos , 2004 - M - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247606 - Siegel , 2003; Penagos , 2004 - M - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247607 - Siegel , 2003; Penagos , 2004 - M - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247608 - Siegel , 2003; Penagos , 2004 - F - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247609 - Siegel , 2003; Penagos , 2004 - M - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247610 - Siegel , 2003; Penagos , 2004 - F - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247611 - Siegel , 2003; Penagos , 2004 - F - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247612 - Siegel , 2003; Penagos , 2004 - M - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247613 - Siegel , 2003; Penagos , 2004 - M - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247614 - Siegel , 2003; Penagos , 2004 - M - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247615 - Siegel , 2003; Penagos , 2004 - F - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247616 - Siegel , 2003; Penagos , 2004 - F - Panama - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
00247617 - PubMed: Burch 2006 - M - United States - - 0 - - KNDLRS - FERMT1 FERMT1 2 1 -
00247618 - PubMed: Siegel 2003 - - - United Kingdom (Great Britain) - - 0 - - KNDLRS - FERMT1 FERMT1 1 1 -
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