Disease #01811 (GO (geroderma osteodysplasticum), OMIM:231070)

Official abbreviation GO
Name geroderma osteodysplasticum
OMIM ID 231070
Human Phenotype Ontology Project (HPO) HPO
Inheritance Isolated Cases (Sporadic)
Individuals reported having this disease 20
Phenotype entries for this disease 20
Associated with 1 gene GORAB
Associated tissues -
Disease features typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands and abdomen when assuming sitting position), decreased bone density
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2023-04-17 18:21:09 +02:00 (CEST)


Individuals

20 entries on 1 page. Showing entries 1 - 20.
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00434915 OA PubMed: Hennies 2008 family - - Oman - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability - GORAB 1 1 Johan den Dunnen
00434916 P1 PubMed: Hennies 2008 family - - Pakistan - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability - GORAB 1 1 Johan den Dunnen
00434917 P2 PubMed: Hennies 2008 family - - Pakistan - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability - GORAB 1 1 Johan den Dunnen
00434918 GT1 PubMed: Hennies 2008 family - - Germany - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability - GORAB 2 1 Johan den Dunnen
00434919 LS PubMed: Hennies 2008 family - - Libya - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability - GORAB 1 1 Johan den Dunnen
00434920 IG Pico 1993, PubMed: Hennies 2008 patient - - Italy - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability - GORAB 1 1 Johan den Dunnen
00434921 GT2 PubMed: Hennies 2008 2-generation family, 4 affected (3F, M), unaffected heterozygous parents F;M yes Germany Mennonite - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability - GORAB 1 4 Johan den Dunnen
00434922 GD1 PubMed: Hennies 2008 2-generation family, 4 affected (3F, M), unaffected heterozygous parents F;M yes Germany Mennonite - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability - GORAB 1 4 Johan den Dunnen
00434923 FamI;FamCD1 PubMed: Hunter 1978, PubMed: Hennies 2008 5-generation family, 4 affected (2F, 2M), unaffected heterozygous parents F;M yes Canada Mennonite - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability - GORAB 1 4 Johan den Dunnen
00434924 MP PubMed: Hennies 2008 2-generation family, 3 affected (F, 2M), unaffected heterozygous parents F;M yes Mexico Mennonite - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability - GORAB 1 3 Johan den Dunnen
00434925 UR42 PubMed: Hennies 2008 - - - United States - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability - GORAB 2 1 Johan den Dunnen
00434926 IR PubMed: Hennies 2008 - - - Italy - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability - GORAB 1 1 Johan den Dunnen
00434927 UT PubMed: Hennies 2008 - - - United States - - - - - GO wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability - GORAB 1 1 Johan den Dunnen
00434983 Fam1Pat1 PubMed: Al-Dosari 2009 4-generation family, affected sister/brother, unaffected heterozygous parents/relatives M yes Saudi Arabia - - - - - GO typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position), radiology normal bone density; congenital dislocation hip GORAB GORAB 1 2 Johan den Dunnen
00434984 Fam1Pat2 PubMed: Al-Dosari 2009 older brother M - Saudi Arabia - - - - - GO typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position), reduced bone density; radiology kyphoscoliosis, cod-fish vertebrae, low Z score; recurrent fractures GORAB GORAB 1 1 Johan den Dunnen
00434985 Fam2Pat3 PubMed: Al-Dosari 2009 5-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives F yes Saudi Arabia - - - - - GO typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position), radiology minimally reduced bone density; one fracture, delayed closure of anterior fontanelle GORAB GORAB 1 2 Johan den Dunnen
00434986 Fam4Pat6 PubMed: Al-Dosari 2009 4-generation family, 2 affected sisters, unaffected heterozygous parents/relatives F yes Saudi Arabia - - - - - GO typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); short stature; radiology minimal reduction in bone density GORAB GORAB 1 2 Johan den Dunnen
00434987 Fam3Pat5 PubMed: Al-Dosari 2009 4-generation family, 1 affected, unaffected heterozygous parents/relatives F yes Saudi Arabia - - - - - GO typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); congenital dislocation hip, recurrent fractures; radiology low Z score, abnormal cephalometric measurements GORAB GORAB 1 1 Johan den Dunnen
00434988 Fam4Pat7 PubMed: Al-Dosari 2009 sister F yes Saudi Arabia - - - - - GO typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); recurrent fracture; radiology low Z score, abnormal cephalometric measurements GORAB GORAB 1 1 Johan den Dunnen
00434989 Fam2Pat4 PubMed: Al-Dosari 2009 cousin M yes Saudi Arabia - - - - - GO typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); fractures in childhood; radiology reduced bone density GORAB GORAB 1 1 Johan den Dunnen
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