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DDD
MCID: DWL001
MIFTS: 44

Dowling-Degos Disease (DDD)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Dowling-Degos Disease

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MalaCards integrated aliases for Dowling-Degos Disease:

Name: Dowling-Degos Disease 12 20 43 58 36 44 15 70
Reticular Pigment Anomaly of Flexures 12 20 43 58
Reticulate Acropigmentation of Kitamura 20 70
Dark Dot Disease 12 43
Reticular Pigmented Anomaly of Flexures 43
Kitamura Reticulate Acropigmentation 20
Dowling-Degos Kitamura Disease 20
Dowling-Degos-Kitamura Disease 43
Ddd 43

Characteristics:

Orphanet epidemiological data:

58
dowling-degos disease
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060256
KEGG 36 H00944
MeSH 44 C562924
SNOMED-CT 67 239133004
ICD10 via Orphanet 33 L81.8
UMLS via Orphanet 71 C3714534
Orphanet 58 ORPHA79145
UMLS 70 C0406811 C3714534
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Summaries for Dowling-Degos Disease

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MedlinePlus Genetics : 43 Dowling-Degos disease is a skin condition characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), particularly in the body's folds and creases. These skin changes typically first appear in the armpits and groin area and can later spread to other skin folds such as the crook of the elbow, back of the knee, and under the breasts. Less commonly, pigmentation changes can also occur on the neck, wrists, back of the hands, face, scalp, scrotum, and vulva. These areas of hyperpigmentation typically cause no health problems.Individuals with Dowling-Degos disease may also have dark spots (lesions) on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, or pitted scars on the face similar to acne scars but with no history of acne. Fluid-filled sacs within the hair follicle (pilar cysts) may develop, most commonly on the scalp. Rarely, affected individuals have patches of skin that are unusually light in color (hypopigmented).In rare cases, individuals with Dowling-Degos disease experience itching (pruritus) or burning sensations on the skin. These feelings can be triggered by UV light, sweating, or friction on the skin.The pigmentation changes characteristic of Dowling-Degos disease typically begin in late childhood or in adolescence, although in some individuals, features of the condition do not appear until adulthood. New areas of hyperpigmentation tend to develop over time, and the other skin lesions tend to increase in number as well. While the skin changes associated with Dowling-Degos disease may cause distress or anxiety, they typically cause no other health problems.A condition called Galli-Galli disease has signs and symptoms similar to those of Dowling-Degos disease. In addition to pigmentation changes, individuals with Galli-Galli disease also have a breakdown of cells in the outer layer of skin (acantholysis). Acantholysis can cause skin irritation and itchiness and lead to reddened or missing patches of skin (erosions). These conditions used to be considered two separate disorders, but Galli-Galli disease and Dowling-Degos disease are now regarded as the same condition.

MalaCards based summary : Dowling-Degos Disease, also known as reticular pigment anomaly of flexures, is related to dowling-degos disease 1 and reticulate acropigmentation of kitamura. An important gene associated with Dowling-Degos Disease is POGLUT1 (Protein O-Glucosyltransferase 1), and among its related pathways/superpathways are Other types of O-glycan biosynthesis and Developmental Biology. Affiliated tissues include skin, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.

GARD : 20 Dowling-Degos disease is characterized by a lacy or net-like (reticulate) pattern of abnormally dark skin coloring (hyperpigmentation) in the body's folds and creases. Other features may include abnormal growths and pus-filled swellings in the armpits, back, and neck. Symptoms typically develop in late childhood or in adolescence and progress over time. The classic form of Dowling-Degos disease occurs when the KRT5 gene is not working correctly. This condition is inherited in an autosomal dominant pattern. The skin changes caused by Dowling-Degos disease can be distressing, but they typically don't cause health problems.

KEGG : 36 Dowling-Degos disease is a rare pigmented skin disorder caused by mutations in keratin 5 and protein O-fucosyltransferase 1. Small hyperpigmented macules appear in a clustered or reticulated pattern at flexural sites, such as the neck, axilla, and anticubital fossa. There may be comedo-like papules on the back and pitted scars on perioral or facial regions.

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Related Diseases for Dowling-Degos Disease

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Diseases in the Dowling-Degos Disease family:

Dowling-Degos Disease 1 Dowling-Degos Disease 2
Dowling-Degos Disease 3 Dowling-Degos Disease 4

Diseases related to Dowling-Degos Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 159)
# Related Disease Score Top Affiliating Genes
1 dowling-degos disease 1 33.0 KRT5 ADAM10
2 reticulate acropigmentation of kitamura 31.0 POGLUT1 POFUT1 KRT5 KRT4 ADAR ADAM10
3 dyschromatosis universalis hereditaria 30.8 KRT5 KRT4 ADAR
4 anal canal squamous cell carcinoma 30.5 PSENEN NCSTN KRT5
5 dowling-degos disease 2 11.9
6 dowling-degos disease 4 11.8
7 acne inversa, familial, 2, with or without dowling-degos disease 11.8
8 dowling-degos disease 3 11.4
9 dense deposit disease 11.4
10 malignant atrophic papulosis 11.2
11 erythrokeratoderma ''en cocardes'' 11.2
12 c3 glomerulopathy 11.1
13 membranoproliferative glomerulonephritis 11.1
14 degenerative disc disease 10.9
15 complement factor h deficiency 10.9
16 hidradenitis suppurativa 10.9
17 hidradenitis 10.8
18 atrioventricular block 10.7
19 sick sinus syndrome 10.6
20 acne 10.6
21 rare genetic skin disease 10.5
22 adrenal cortical carcinoma 10.5
23 keratosis 10.5
24 acanthosis nigricans 10.4
25 epidermolysis bullosa simplex 10.4
26 adrenocortical carcinoma, hereditary 10.4
27 adrenal cortical adenocarcinoma 10.4
28 epidermoid cysts 10.4
29 alzheimer disease 10.3
30 dyschromatosis symmetrica hereditaria 10.3
31 cloacogenic carcinoma 10.3 KRT5 KRT4
32 lentigines 10.3
33 keratosis, seborrheic 10.3
34 melanoma 10.3
35 skin disease 10.3
36 pustulosis of palm and sole 10.3
37 inverted follicular keratosis 10.3
38 psoriasis 10.3
39 syncope 10.3
40 atrial standstill 1 10.3
41 adrenal carcinoma 10.2
42 sweat gland disease 10.2 PSENEN NCSTN KRT5
43 sinoatrial node disease 10.2
44 hypertrophic cardiomyopathy 10.2
45 pigmentation disease 10.2 POGLUT1 POFUT1 ADAR
46 adult liposarcoma 10.2 NOTCH1 ADAR
47 mitral valve insufficiency 10.2
48 nodular regenerative hyperplasia 10.2 NOTCH2 NOTCH1
49 progressive familial heart block, type ia 10.1
50 hydronephrosis 10.1

Graphical network of the top 20 diseases related to Dowling-Degos Disease:



Diseases related to Dowling-Degos Disease
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Symptoms & Phenotypes for Dowling-Degos Disease

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GenomeRNAi Phenotypes related to Dowling-Degos Disease according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.55 MFNG
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 9.55 KRT4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.55 MFNG
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.55 NOTCH2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-188 9.55 KRT4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 9.55 NOTCH2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.55 MFNG
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-208 9.55 POFUT1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.55 MFNG
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 9.55 MFNG
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-56 9.55 NOTCH2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.55 KRT4 MFNG
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-67 9.55 KRT4
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.55 NOTCH2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-92 9.55 NOTCH2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 9.55 POFUT1

MGI Mouse Phenotypes related to Dowling-Degos Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10 ADAM10 ADAR GXYLT1 LFNG MFNG NCSTN
2 growth/size/body region MP:0005378 10 ADAM10 ADAR B3GNT2 GXYLT1 KRT4 KRT5
3 craniofacial MP:0005382 9.92 ADAM10 B3GNT2 KRT4 KRT5 NCSTN NOTCH1
4 integument MP:0010771 9.61 ADAM10 GXYLT1 KRT4 KRT5 NCSTN NOTCH1
5 mortality/aging MP:0010768 9.5 ADAM10 ADAR EOGT GXYLT1 KRT4 KRT5
Sources

Drugs & Therapeutics for Dowling-Degos Disease

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Search Clinical Trials , NIH Clinical Center for Dowling-Degos Disease

Cochrane evidence based reviews: dowling-degos disease

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Genetic Tests for Dowling-Degos Disease

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Anatomical Context for Dowling-Degos Disease

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MalaCards organs/tissues related to Dowling-Degos Disease:

40
Skin
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Publications for Dowling-Degos Disease

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Articles related to Dowling-Degos Disease:

(show top 50) (show all 182)
# Title Authors PMID Year
1
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. 61 6
24387993 2014
2
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. 6 61
23684010 2013
3
[Galli-Galli disease. Clinical and histopathological investigation using a case series of 18 patients]. 61 6
21971768 2011
4
Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. 61 6
20222933 2010
5
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. 6 61
16465624 2006
6
[Dowling-Degos disease--an autosomal dominant genetic dermatosis]. 6 61
3188604 1988
7
Generalized solar lentigines in a patient with a history of radon exposure. 6
20664185 2010
8
Enhanced cytoplasmic expression of desmocollin 3 in epidermal rete ridges of Dowling-Degos syndrome. 6
14674915 2003
9
Co-occurrence of Dowling-Degos disease and pemphigus vulgaris. 61
33660255 2021
10
Multiomics Integration in Skin Diseases with Alterations in Notch Signaling Pathway: PlatOMICs Phase 1 Deployment. 61
33546374 2021
11
Comorbid acne inversa and Dowling-Degos disease due to a single NCSTN mutation: is there enough evidence? 61
32894577 2021
12
Comorbid acne inversa and Dowling-Degos disease due to a single NCSTN mutation: is there enough evidence? Reply from the authors. 61
32895925 2021
13
A novel mutation in POFUT1 gene associated with Dowling-Degos disease and hidradenitis suppurativa. 61
32767357 2021
14
Structure, function, and pathology of protein O-glucosyltransferases. 61
33436558 2021
15
PSENEN Mutation in Coexistent Hidradenitis Suppurativa and Dowling-Degos Disease. 61
33768038 2021
16
Hidradenitis Suppurativa Associated with Galli-Galli Disease: Extending the Link with Dowling-Degos Disease. 61
33488918 2020
17
Dowling-Degos disease: a review. 61
33368260 2020
18
Diseases related to Notch glycosylation. 61
33341260 2020
19
The deregulation of NOTCH pathway, inflammatory cytokines, and keratinization genes in two Dowling-Degos disease patients with hidradenitis suppurativa. 61
33200913 2020
20
Scrotal Dowling-Degos disease caused by a novel frameshift variant in gamma-secretase subunit presenile enhancer gene. 61
32478413 2020
21
Novel nicastrin mutation in hidradenitis suppurativa-Dowling-Degos disease clinical phenotype: more than just clinical overlap? 61
32282940 2020
22
Coexistence of acne inversa with psoriasis and Dowling-Degos disease harboring impaired PSENEN-Notch signaling. 61
32852387 2020
23
[Vulvar Dowling-Degos disease]. 61
32600663 2020
24
Dowling-Degos Disease with Follicular Involvement Associated with Hidradenitis Suppurativa: A Manifestation of Follicular Occlusion Phenomenon? 61
32831371 2020
25
Atypical Disseminated Variant of Galli-Galli Disease: A Review of the Literature. 61
31449063 2020
26
Dermoscopy of Follicular Dowling-Degos Disease. 61
32831370 2020
27
Pleiotropic Role of Notch Signaling in Human Skin Diseases. 61
32545758 2020
28
Epidermal keratin 5 expression and distribution is under dermal influence. 61
31692218 2020
29
Dowling-Degos Disease with Hidradenitis Suppurativa and Inflammatory Arthritis in Two Generations. 61
32695705 2020
30
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions. 61
31566882 2019
31
Mast cell activation in Dowling-Degos disease. 61
31206596 2019
32
A familial case of Dowling-Degos disease on the vulva. 61
30666695 2019
33
A case of hidradenitis suppurativa linked to trisomy 1q. 61
31535764 2019
34
Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature. 61
31120546 2019
35
Dowling-Degos Disease - A Novel Presentation of An Uncommon Disease. 61
31544084 2019
36
Classic dowling degos disease: a rare genodermatosis. 61
31195785 2019
37
Full ablative versus fractional ablative laser therapy for Dowling-Degos disease. 61
30281812 2019
38
Dowling-Degos Disease Presenting Primarily with Comedones and Atrophic Scarring. 61
31700856 2019
39
Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis. 61
30414910 2019
40
Hidradenitis suppurativa of the nape: Description of an atypical phenotype related to severe early-onset disease in men. 61
30561771 2019
41
Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update. 61
30692041 2019
42
Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1. 61
29797344 2018
43
A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease. 61
29569780 2018
44
A case of co-occurence of Dowling-Degos disease and psoriasis: association or a rarely-seen coincidence? 61
30518180 2018
45
Dowling-Degos Disease Localized on Vulva Mimicking Condyloma Acuminata. 61
30504986 2018
46
Vesicular variant of Dowling-Degos disease. 61
29931677 2018
47
Whole exome sequencing in a multi-generation family from India reveals a genetic variation c.10C>T (p.Gln4Ter) in keratin 5 gene associated with Dowling-Degos disease. 61
29600799 2018
48
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features. 61
29452367 2018
49
Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from the authors. 61
29274076 2018
50
Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder. 61
29274243 2018
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Variations for Dowling-Degos Disease

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ClinVar genetic disease variations for Dowling-Degos Disease:

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POGLUT1 NM_152305.3(POGLUT1):c.11G>A (p.Trp4Ter) SNV Pathogenic 126528 rs587777293 GRCh37: 3:119187879-119187879
GRCh38: 3:119469032-119469032
2 POGLUT1 NM_152305.3(POGLUT1):c.652C>T (p.Arg218Ter) SNV Pathogenic 126529 rs587777294 GRCh37: 3:119205693-119205693
GRCh38: 3:119486846-119486846
3 POGLUT1 NM_152305.3(POGLUT1):c.798-2A>C SNV Pathogenic 126530 rs587777295 GRCh37: 3:119209396-119209396
GRCh38: 3:119490549-119490549
4 POGLUT1 NM_152305.3(POGLUT1):c.835dup (p.Arg279fs) Duplication Pathogenic 126531 rs587777296 GRCh37: 3:119209433-119209434
GRCh38: 3:119490586-119490587
5 POGLUT1 NM_152305.3(POGLUT1):c.835C>T (p.Arg279Trp) SNV Pathogenic 126532 rs587777297 GRCh37: 3:119209435-119209435
GRCh38: 3:119490588-119490588
6 POFUT1 NM_015352.2(POFUT1):c.430G>T (p.Glu144Ter) SNV Pathogenic 56808 rs398123038 GRCh37: 20:30804412-30804412
GRCh38: 20:32216609-32216609
7 POFUT1 NM_015352.2(POFUT1):c.482del (p.Lys161fs) Deletion Pathogenic 56809 rs886041033 GRCh37: 20:30804463-30804463
GRCh38: 20:32216660-32216660
8 POFUT1 NM_015352.2(POFUT1):c.289C>T (p.Gln97Ter) SNV Pathogenic 574378 rs1569152303 GRCh37: 20:30803114-30803114
GRCh38: 20:32215311-32215311
9 KRT5 NM_000424.4(KRT5):c.14C>A (p.Ser5Ter) SNV Pathogenic 14647 rs58751565 GRCh37: 12:52914067-52914067
GRCh38: 12:52520283-52520283
10 KRT5 NM_000424.4(KRT5):c.418dup (p.Ile140fs) Duplication Pathogenic 66235 rs61348424 GRCh37: 12:52913662-52913663
GRCh38: 12:52519878-52519879
11 KRT5 NM_000424.4(KRT5):c.980T>C (p.Met327Thr) SNV Pathogenic 14641 rs58072617 GRCh37: 12:52911486-52911486
GRCh38: 12:52517702-52517702
12 POGLUT1 NM_152305.3(POGLUT1):c.394C>T (p.Arg132Ter) SNV Pathogenic 1029190 GRCh37: 3:119196233-119196233
GRCh38: 3:119477386-119477386
13 POFUT1 NM_015352.2(POFUT1):c.784A>G (p.Met262Val) SNV Uncertain significance 1046967 GRCh37: 20:30818670-30818670
GRCh38: 20:32230867-32230867
14 POFUT1 NM_015352.2(POFUT1):c.90C>G (p.Asp30Glu) SNV Uncertain significance 570946 rs368413950 GRCh37: 20:30795834-30795834
GRCh38: 20:32208031-32208031
15 POFUT1 NM_015352.2(POFUT1):c.637G>C (p.Val213Leu) SNV Uncertain significance 940614 GRCh37: 20:30816160-30816160
GRCh38: 20:32228357-32228357
16 KRT5 NM_000424.4(KRT5):c.224C>A (p.Ser75Tyr) SNV Uncertain significance 982659 GRCh37: 12:52913857-52913857
GRCh38: 12:52520073-52520073
17 POFUT1 NM_015352.2(POFUT1):c.1155G>A (p.Arg385=) SNV Likely benign 541310 rs780991231 GRCh37: 20:30822452-30822452
GRCh38: 20:32234649-32234649
18 POFUT1 NM_015352.2(POFUT1):c.900G>A (p.Ser300=) SNV Benign 710154 rs78861748 GRCh37: 20:30818786-30818786
GRCh38: 20:32230983-32230983
19 POFUT1 NM_015352.2(POFUT1):c.751A>G (p.Met251Val) SNV Benign 719060 rs79984831 GRCh37: 20:30818637-30818637
GRCh38: 20:32230834-32230834
20 POFUT1 NM_015352.2(POFUT1):c.937G>A (p.Glu313Lys) SNV Benign 774965 rs35968884 GRCh37: 20:30818823-30818823
GRCh38: 20:32231020-32231020
21 POFUT1 NM_015352.2(POFUT1):c.1158C>T (p.Asp386=) SNV Benign 778880 rs7263390 GRCh37: 20:30822455-30822455
GRCh38: 20:32234652-32234652
22 POFUT1 NM_015352.2(POFUT1):c.588A>G (p.Pro196=) SNV Benign 474295 rs6579005 GRCh37: 20:30816111-30816111
GRCh38: 20:32228308-32228308
23 POFUT1 NM_015352.2(POFUT1):c.964C>T (p.Leu322Phe) SNV Benign 474296 rs17268666 GRCh37: 20:30818850-30818850
GRCh38: 20:32231047-32231047
Sources

Expression for Dowling-Degos Disease

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Search GEO for disease gene expression data for Dowling-Degos Disease.
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Pathways for Dowling-Degos Disease

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Pathways related to Dowling-Degos Disease according to KEGG:

36
# Name Kegg Source Accession
1 Other types of O-glycan biosynthesis hsa00514

Pathways related to Dowling-Degos Disease according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Developmental Biology 65
Show member pathways
 13.32 SPRR2D PSENEN NOTCH1 NCSTN KRT5 KRT4
2
PI3K-Akt signaling pathway 36
Show member pathways
 12.81 RFNG NOTCH2 NOTCH1 MFNG LFNG
3
Signaling by NOTCH1 65
Show member pathways
 12.76 RFNG PSENEN POGLUT1 POFUT1 NOTCH2 NOTCH1
4
Notch Signaling Pathway (WikiPathways) 1
Show member pathways
 12.42 RFNG PSENEN POFUT1 NOTCH2 NOTCH1 NCSTN
5
Neuroscience 4
12.39 PSENEN NOTCH2 NOTCH1 NCSTN
6
Wnt / Hedgehog / Notch 4
12.14 PSENEN NOTCH2 NOTCH1 NCSTN LFNG
7
Development NOTCH1-mediated pathway for NF-KB activity modulation 23
Show member pathways
 12.11 RFNG PSENEN NOTCH1 NCSTN MFNG LFNG
8
NOTCH2 Activation and Transmission of Signal to the Nucleus 65
Show member pathways
 12.01 PSENEN NOTCH2 NOTCH1 NCSTN ADAM10
9
Pre-NOTCH Expression and Processing 65
Show member pathways
 12.01 RFNG POGLUT1 POFUT1 NOTCH2 NOTCH1 MFNG
10
Presenilin-Mediated Signaling 63
11.98 PSENEN NOTCH2 NOTCH1 NCSTN
11
Mucin type O-glycan biosynthesis 36
Show member pathways
 11.57 XXYLT1 RFNG POGLUT1 POFUT1 MFNG LFNG
12
Presenilin action in Notch and Wnt signaling 1
11.4 PSENEN NOTCH1 NCSTN ADAM10
13
Canonical and Non-canonical Notch signaling 1
11.12 NOTCH2 NOTCH1 ADAM10
14
Notch Signaling 63
11.11 RFNG NOTCH2 NOTCH1 NCSTN MFNG LFNG
15
A-beta Pathways: Plaque Formation and APP Metabolism 64
11.03 PSENEN NCSTN ADAM10
16
Notch Signaling Pathway (sino) 66
11 RFNG PSENEN POFUT1 NOTCH2 NOTCH1 MFNG
17
Syndecan-3-mediated signaling events 1
10.78 PSENEN NCSTN
18
Gene regulatory network modelling somitogenesis 1
10.58 NOTCH1 LFNG
Sources

GO Terms for Dowling-Degos Disease

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Cellular components related to Dowling-Degos Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.22 XXYLT1 RFNG PSENEN POFUT1 NOTCH2 NOTCH1
2 integral component of membrane GO:0016021 10.18 XXYLT1 RFNG PSENEN NOTCH2 NOTCH1 NCSTN
3 endoplasmic reticulum GO:0005783 9.95 XXYLT1 PSENEN POGLUT1 POFUT1 NOTCH1 NCSTN
4 Golgi membrane GO:0000139 9.5 RFNG NOTCH2 NOTCH1 MFNG LFNG B3GNT2
5 integral component of Golgi membrane GO:0030173 9.43 RFNG MFNG LFNG
6 Golgi apparatus GO:0005794 9.28 RFNG PSENEN NOTCH1 NCSTN MFNG LFNG
7 gamma-secretase complex GO:0070765 9.16 PSENEN NCSTN

Biological processes related to Dowling-Degos Disease according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.12 RFNG POGLUT1 NOTCH2 NOTCH1 MFNG LFNG
2 positive regulation of apoptotic process GO:0043065 9.93 PSENEN NOTCH2 NOTCH1 NCSTN ADAM10
3 protein glycosylation GO:0006486 9.85 POGLUT1 POFUT1 FUT5 B3GNT2
4 cornification GO:0070268 9.8 SPRR2D KRT5 KRT4
5 epidermis development GO:0008544 9.8 SPRR2D NOTCH1 KRT5
6 protein processing GO:0016485 9.76 PSENEN NCSTN ADAM10
7 pattern specification process GO:0007389 9.74 RFNG MFNG LFNG
8 O-glycan processing GO:0016266 9.71 XXYLT1 POFUT1 GXYLT1 B3GNT2
9 somitogenesis GO:0001756 9.7 POGLUT1 POFUT1 LFNG
10 protein O-linked glycosylation GO:0006493 9.67 POGLUT1 POFUT1 EOGT
11 positive regulation of Notch signaling pathway GO:0045747 9.67 RFNG POGLUT1 NOTCH1 MFNG
12 inflammatory response to antigenic stimulus GO:0002437 9.64 NOTCH2 NOTCH1
13 membrane protein intracellular domain proteolysis GO:0031293 9.63 PSENEN NCSTN
14 membrane protein ectodomain proteolysis GO:0006509 9.63 PSENEN NCSTN ADAM10
15 pulmonary valve morphogenesis GO:0003184 9.62 NOTCH2 NOTCH1
16 positive regulation of endopeptidase activity GO:0010950 9.61 PSENEN NCSTN
17 left/right axis specification GO:0070986 9.61 NOTCH2 NOTCH1
18 amyloid precursor protein catabolic process GO:0042987 9.61 PSENEN NCSTN ADAM10
19 Notch signaling involved in heart development GO:0061314 9.6 NOTCH2 NOTCH1
20 amyloid precursor protein metabolic process GO:0042982 9.59 PSENEN NCSTN
21 Notch receptor processing GO:0007220 9.58 PSENEN NCSTN
22 regulation of somitogenesis GO:0014807 9.56 NOTCH1 LFNG
23 regulation of developmental process GO:0050793 9.51 NOTCH2 NOTCH1
24 amyloid-beta formation GO:0034205 9.5 PSENEN NCSTN ADAM10
25 negative regulation of growth rate GO:0045967 9.48 NOTCH2 NOTCH1
26 marginal zone B cell differentiation GO:0002315 9.43 NOTCH2 MFNG LFNG
27 Notch signaling pathway GO:0007219 9.43 PSENEN POFUT1 NOTCH2 NOTCH1 NCSTN ADAM10
28 Notch receptor processing, ligand-dependent GO:0035333 9.33 PSENEN NCSTN ADAM10
29 regulation of Notch signaling pathway GO:0008593 9.17 RFNG POGLUT1 POFUT1 NOTCH1 MFNG LFNG

Molecular functions related to Dowling-Degos Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.02 XXYLT1 RFNG POGLUT1 POFUT1 MFNG LFNG
2 acetylglucosaminyltransferase activity GO:0008375 9.46 RFNG MFNG LFNG B3GNT2
3 UDP-xylosyltransferase activity GO:0035252 9.43 XXYLT1 POGLUT1 GXYLT1
4 fucosyltransferase activity GO:0008417 9.37 POFUT1 FUT5
5 transferase activity, transferring glycosyl groups GO:0016757 9.32 XXYLT1 RFNG POGLUT1 POFUT1 MFNG LFNG
6 O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity GO:0033829 9.13 RFNG MFNG LFNG
Sources

Sources for Dowling-Degos Disease

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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