Disease #04050 (DDD4 (disease, Dowling-Degos, type 4 (DDD4)), OMIM:615696)

Official abbreviation DDD4
Name disease, Dowling-Degos, type 4 (DDD4)
OMIM ID 615696
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 27
Phenotype entries for this disease 27
Associated with 1 gene POGLUT1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2020-06-29 18:29:56 +02:00 (CEST)


Individuals

27 entries on 1 page. Showing entries 1 - 27.
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00395545 patient PubMed: Hanneken 2011, PubMed: Basmanav 2014 patient - - Germany - - - - - DDD4 - POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395546 patient PubMed: Basmanav 2014 patient - - Denmark - - - - - DDD4 - POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395547 patient PubMed: Basmanav 2014 patient - - Switzerland - - - - - DDD4 - POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395548 patient PubMed: Basmanav 2014 patient - - Germany - - - - - DDD4 - POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395549 patient PubMed: Basmanav 2014 patient - - Germany - - - - - DDD4 - POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395550 FamGPatI1/II1 PubMed: Hanneken 2011, PubMed: Basmanav 2014 2-generation family, affected father/son M - Germany - - - - - DDD4 - POGLUT1 POGLUT1 1 2 Johan den Dunnen
00395551 patient PubMed: Basmanav 2014 patient - - Germany - - - - - DDD4 - POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395552 patient PubMed: Basmanav 2014 patient - - Germany - - - - - DDD4 - POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395553 FamHPatI1/II1/II2 PubMed: Hanneken 2011, PubMed: Basmanav 2014 2-generation family, affected mother/2 daughters F - Germany - - - - - DDD4 - POGLUT1 POGLUT1 1 3 Johan den Dunnen
00395554 patient PubMed: Basmanav 2014 patient - - Germany - - - - - DDD4 - POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395555 patient PubMed: Mauerer 2010, PubMed: Basmanav 2014 patient F - Germany - - - - - DDD4 - POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395556 patient PubMed: Basmanav 2014 patient - - Germany - - - - - DDD4 - - - - 1 Johan den Dunnen
00395557 patient PubMed: Basmanav 2014 patient - - Germany - - - - - DDD4 - - - - 1 Johan den Dunnen
00395639 - PubMed: Ralser 2019 - F - - white - - - - DDD4 no hyperpigmentation face, neck; hyperpigmentation trunk, axillae, extremeties, inframammary region, hands, feet, elbows, wrists, inguinal folds, genitals POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395640 - PubMed: Ralser 2019 - - - - - - - - - DDD4 hyperpigmentation POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395641 - PubMed: Ralser 2019 - - - - - - - - - DDD4 hyperpigmentation POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395642 - PubMed: Ralser 2019 - F - - white - - - - DDD4 no hyperpigmentation axillae, inframammary region, feet, elbows, wrists, inguinal folds, genitals; hyperpigmentation face, neck, extremeties, hands POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395643 - PubMed: Ralser 2019 - - - - - - - - - DDD4 hyperpigmentation POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395644 - PubMed: Ralser 2019 - F - - white - - - - DDD4 no hyperpigmentation face, neck, hands, feet, elbows, wrists; hyperpigmentation trunk, axillae, extremeties, inframammary region, inguinal folds, genitals POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395645 - PubMed: Ralser 2019 - F - - white - - - - DDD4 no hyperpigmentation face, neck, hands, feet, genitals; hyperpigmentation trunk, axillae, extremeties, inframammary region, elbows, wrists, inguinal folds POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395646 - PubMed: Ralser 2019 - - - - - - - - - DDD4 hyperpigmentation POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395647 - PubMed: Ralser 2019 - M - Turkey - - - - - DDD4 no hyperpigmentation axillae, axillae, inframammary region, elbows, wrists, inguinal folds, genitals; hyperpigmentation face, neck, extremeties, hands, feet POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395648 - PubMed: Ralser 2019 - F - - white - - - - DDD4 no hyperpigmentation face, neck, axillae, hands, feet, elbows, wrists, genitals; hyperpigmentation trunk, extremeties, inframammary region, inguinal folds POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395649 - PubMed: Ralser 2019 - - - - - - - - - DDD4 hyperpigmentation POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395650 - PubMed: Ralser 2019 - F - - white - - - - DDD4 no hyperpigmentation face, neck, axillae, inframammary region, hands, feet, elbows, wrists, inguinal folds, genitals; hyperpigmentation trunk, extremeties POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395651 - PubMed: Ralser 2019 - F - - white - - - - DDD4 no hyperpigmentation trunk, trunk, axillae, hands, feet, elbows, wrists, inguinal folds, genitals; hyperpigmentation face, neck, extremeties, inframammary region POGLUT1 POGLUT1 1 1 Johan den Dunnen
00395652 - PubMed: Ralser 2019 - M - - white - - - - DDD4 no hyperpigmentation face, neck, axillae, hands, feet, elbows, inguinal folds, genitals; hyperpigmentation trunk, extremeties, inframammary region, wrists POGLUT1 POGLUT1 1 1 Johan den Dunnen
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