Disease #01482 (GDD (dysplasia, gnathodiaphyseal (GDD)), OMIM:166260)

Official abbreviation GDD
Name dysplasia, gnathodiaphyseal (GDD)
OMIM ID 166260
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 15
Phenotype entries for this disease 15
Associated with 1 gene ANO5
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Disease features -
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Individuals

15 entries on 1 page. Showing entries 1 - 15.
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00073766 27068316-FamPatII2 PubMed: Duong 2016, Journal: Duong 2016 3-generation family, 8 affetecds (4F, 4M), case 1 (PatII2) M - Germany;Italy - >41y 0 - - GDD mandibular osteomyelitis (HP:0007626), increased susceptibility to fractures (HP:0002659), ... ANO5 ANO5 1 8 Pieter Klap
00074345 - Fichna ESHG2016 P10.20 - - no Poland - - 0 - - GDD - ANO5 ANO5 2 1 Johan den Dunnen
00074346 - Fichna ESHG2016 P10.20 - - no Poland - - 0 - - GDD - ANO5, DYSF ANO5, DYSF 3 1 Johan den Dunnen
00074347 - Fichna ESHG2016 P10.20 - - no Poland - - 0 - - GDD - ANO5, DYSF ANO5, DYSF 3 1 Johan den Dunnen
00074348 - Fichna ESHG2016 P10.20 - - no Poland - - 0 - - GDD - ANO5, CAV3 ANO5, CAV3 2 1 Johan den Dunnen
00074349 - Fichna ESHG2016 P10.20 - - no Poland - - 0 - - GDD - ANO5 ANO5 1 1 Johan den Dunnen
00074350 - Fichna ESHG2016 P10.20 - - no Poland - - 0 - - GDD - ANO5 ANO5 1 1 Johan den Dunnen
00078730 - PubMed: Akasaka 1969 4-generation family 17 affecteds - - Japan - - 0 - - GDD frequent bone fractures, propensity jaw infection, often suffer from purulent osteomyelitis-like symptoms (swelling of/pus discharge from gums, mobility teeth, insufficient healing after tooth extraction, exposure lesions into oral cavity), extragnathic skeletal changes (generalized coarse bony trabeculae, gross thickening diaphyseal cortices long bones) ANO5 ANO5 1 17 Johan den Dunnen
00078731 - PubMed: Tsutsumi 2004 father of 15124103_AAs M - United States African American - 0 - - GDD - ANO5 ANO5 1 1 Johan den Dunnen
00078732 - PubMed: Tsutsumi 2004 son of 15124103_AAf M - United States African American - 0 - - GDD - ANO5 ANO5 1 1 Johan den Dunnen
00078805 - PubMed: Marconi 2012 6-generation family, 15 affecteds F - Italy - >41y 0 - - GDD cemento-osseous lesions jaw bones, inferior arch sclerosis, bilateral periodontopathy, bones thickening areas, jaw bones sclerosis, right jaw angle structural rearrangement, jaw odontoid cystis with included tooth purulent osteomyelitis; raised CPK (HP:0003236) 809 mU/ml ANO5 ANO5 1 11 Johan den Dunnen
00078806 - PubMed: Marconi 2012 6-generation family, 15 affecteds M - Italy - >42y 0 - - GDD spontaneous fractures vertebras, fibula, thighbones, radius/ulna, III right metatarsus, right iliac wing, hallux, healing problems after extraction wisdom teeth, cotton-wool-like pattern bony structure mandible, bone thickening jaws, areas cotton-wool-like pattern of alveolar region; raised CPK (HP:0003236) 112 mU/ml ANO5 ANO5 1 1 Johan den Dunnen
00078807 - PubMed: Marconi 2012 6-generation family, 15 affecteds M - Italy - >76y 0 - - GDD cemento-osseous lesions jaw bones, purulent osteomyelitis, bilateral osteolysis, jaw structural rearrangement, slow-healing fractured right knee/V left finger; raised CPK (HP:0003236) 89 mU/ml ANO5 ANO5 1 1 Johan den Dunnen
00078808 - PubMed: Marconi 2012 6-generation family, 15 affecteds F - Italy - >70y 0 - - GDD cemento-osseous lesions jaw bones, purulent osteomyelitis, no slow-healing fractured bones ANO5 ANO5 1 1 Johan den Dunnen
00078809 - PubMed: Marconi 2012 6-generation family, 15 affecteds F - Italy - >75y 0 - - GDD cemento-osseous lesions jaw bones, inferior arch sclerosis, bilateral periodontopathy, bones thickening areas, slow-healing fractured thighbones/humerus; raised CPK (HP:0003236) 132 mU/ml ANO5 ANO5 1 1 Johan den Dunnen
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