DDD
MCID: DWL001
MIFTS: 42

Dowling-Degos Disease (DDD)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dowling-Degos Disease

MalaCards integrated aliases for Dowling-Degos Disease:

Name: Dowling-Degos Disease 12 52 25 58 36 43 15 71
Reticular Pigment Anomaly of Flexures 12 52 25 58
Reticulate Acropigmentation of Kitamura 52 71
Dark Dot Disease 12 25
Reticular Pigmented Anomaly of Flexures 25
Kitamura Reticulate Acropigmentation 52
Dowling-Degos Kitamura Disease 52
Dowling-Degos-Kitamura Disease 25
Ddd 25

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060256
KEGG 36 H00944
MeSH 43 C562924
SNOMED-CT 67 239133004
ICD10 via Orphanet 33 L81.8
UMLS via Orphanet 72 C3714534
Orphanet 58 ORPHA79145
UMLS 71 C0406811 C3714534

Summaries for Dowling-Degos Disease

Genetics Home Reference : 25 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 hidradenitis suppurativa and hidradenitis. 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, breast and liver, 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.

NIH Rare Diseases : 52 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. Other features may include dark lesions on the face and back that resemble blackheads, red bumps around the mouth that resemble acne, depressed or pitted scars on the face similar to acne scars but with no history of acne, cysts within hair follicles (pilar cysts ) on the scalp, and rarely, patches of skin that are unusually light in color (hypopigmented). Symptoms typically develop in late childhood or in adolescence and progress over time. While the skin changes caused by Dowling-Degos disease can be bothersome, they typically don't cause health problems. Dowling-Degos disease is caused by mutations in the KRT5 gene . This condition is inherited in an autosomal dominant pattern.

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.

Related Diseases for Dowling-Degos Disease

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 187)
# Related Disease Score Top Affiliating Genes
1 hidradenitis suppurativa 31.8 PSENEN NCSTN KRT14
2 hidradenitis 31.8 PSENEN NCSTN KRT14
3 dyschromatosis universalis hereditaria 31.2 KRT5 KRT4 ADAR ADAM10
4 anal canal squamous cell carcinoma 31.1 PSENEN NCSTN KRT5
5 reticulate acropigmentation of kitamura 31.1 POGLUT1 POFUT1 KRT5 KRT4 KRT14 ADAR
6 dowling-degos disease 2 13.1
7 dowling-degos disease 4 13.1
8 dowling-degos disease 1 13.1
9 acne inversa, familial, 2, with or without dowling-degos disease 13.0
10 dowling-degos disease 3 12.6
11 dense deposit disease 12.1
12 c3 glomerulopathy 11.7
13 membranoproliferative glomerulonephritis 11.7
14 degenerative disc disease 11.5
15 malignant atrophic papulosis 11.4
16 erythrokeratoderma ''en cocardes'' 11.4
17 atrioventricular block 10.8
18 sick sinus syndrome 10.7
19 neurofibromatosis, type ii 10.7
20 keratosis 10.7
21 rare genetic skin disease 10.7
22 adrenal cortical carcinoma 10.6
23 acanthosis nigricans 10.6
24 epidermolysis bullosa simplex 10.6
25 adrenocortical carcinoma, hereditary 10.6
26 adrenal cortical adenocarcinoma 10.6
27 cloacogenic carcinoma 10.5 KRT5 KRT4
28 epidermoid cysts 10.5
29 lentigines 10.5
30 keratosis, seborrheic 10.5
31 inverted follicular keratosis 10.5
32 47,xyy 10.5
33 adult liposarcoma 10.4 NOTCH1 ADAR
34 benign breast adenomyoepithelioma 10.4 KRT5 KRT14
35 breast adenomyoepithelioma 10.4 KRT5 KRT14
36 ceruminous adenocarcinoma 10.4 KRT5 KRT14
37 alzheimer disease 10.4
38 breast myoepithelial neoplasm 10.4 KRT5 KRT14
39 atrial fibrillation 10.4
40 syncope 10.4
41 nodular regenerative hyperplasia 10.4 NOTCH2 NOTCH1
42 squamous cell bile duct carcinoma 10.4 KRT5 KRT14
43 breast metaplastic carcinoma 10.4 KRT5 KRT14
44 epidermolysis bullosa simplex, autosomal recessive 1 10.4 KRT5 KRT14
45 odontoma 10.4 KRT5 KRT14
46 atrial standstill 1 10.4
47 congestive heart failure 10.4
48 micronodular basal cell carcinoma 10.4 KRT5 KRT14
49 breast myoepithelial carcinoma 10.4 KRT5 KRT14
50 lipid-rich carcinoma 10.4 KRT5 KRT14

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



Diseases related to Dowling-Degos Disease

Symptoms & Phenotypes for Dowling-Degos Disease

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 ADAM10 ADAR B3GNT2 GXYLT1 KRT14 KRT4
2 craniofacial MP:0005382 10.06 ADAM10 B3GNT2 KRT14 KRT4 KRT5 NCSTN
3 embryo MP:0005380 10.02 ADAM10 ADAR LFNG MFNG NCSTN NOTCH1
4 digestive/alimentary MP:0005381 9.91 ADAM10 KRT14 KRT4 KRT5 NOTCH1 NOTCH2
5 mortality/aging MP:0010768 9.86 ADAM10 ADAR EOGT GXYLT1 KRT14 KRT4
6 integument MP:0010771 9.85 ADAM10 ADAR KRT14 KRT4 KRT5 NCSTN
7 pigmentation MP:0001186 9.02 ADAM10 KRT14 KRT4 NOTCH1 NOTCH2

Drugs & Therapeutics for Dowling-Degos Disease

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

Cochrane evidence based reviews: dowling-degos disease

Genetic Tests for Dowling-Degos Disease

Anatomical Context for Dowling-Degos Disease

MalaCards organs/tissues related to Dowling-Degos Disease:

40
Skin, Breast, Liver

Publications for Dowling-Degos Disease

Articles related to Dowling-Degos Disease:

(show top 50) (show all 166)
# Title Authors PMID Year
1
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. 6 61
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]. 6 61
21971768 2011
4
Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. 6 61
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
Pleiotropic Role of Notch Signaling in Human Skin Diseases. 61
32545758 2020
10
Scrotal Dowling-Degos disease caused by a novel frameshift variant in gamma-secretase subunit presenile enhancer gene. 61
32478413 2020
11
Epidermal keratin 5 expression and distribution is under dermal influence. 61
31692218 2020
12
Novel nicastrin mutation in hidradenitis suppurativa-Dowling-Degos disease clinical phenotype: more than just clinical overlap? 61
32282940 2020
13
A familial case of Dowling-Degos disease on the vulva. 61
30666695 2019
14
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions. 61
31566882 2019
15
Mast cell activation in Dowling-Degos disease. 61
31206596 2019
16
A case of hidradenitis suppurativa linked to trisomy 1q. 61
31535764 2019
17
Dowling-Degos Disease - A Novel Presentation of An Uncommon Disease. 61
31544084 2019
18
Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature. 61
31120546 2019
19
Atypical Disseminated Variant of Galli-Galli Disease: A Review of the Literature. 61
31449063 2019
20
Classic dowling degos disease: a rare genodermatosis. 61
31195785 2019
21
Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis. 61
30414910 2019
22
Full ablative versus fractional ablative laser therapy for Dowling-Degos disease. 61
30281812 2019
23
Dowling-Degos Disease Presenting Primarily with Comedones and Atrophic Scarring. 61
31700856 2019
24
Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update. 61
30692041 2019
25
Hidradenitis suppurativa of the nape: Description of an atypical phenotype related to severe early-onset disease in men. 61
30561771 2019
26
Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1. 61
29797344 2018
27
A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease. 61
29569780 2018
28
A case of co-occurence of Dowling-Degos disease and psoriasis: association or a rarely-seen coincidence? 61
30518180 2018
29
Dowling-Degos Disease Localized on Vulva Mimicking Condyloma Acuminata. 61
30504986 2018
30
Vesicular variant of Dowling-Degos disease. 61
29931677 2018
31
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features. 61
29452367 2018
32
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
33
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
34
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
35
A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. 61
28922471 2018
36
Concurrent hidradenitis suppurativa and Dowling-Degos disease taken down a 'Notch'. 61
29441533 2018
37
Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene. 61
28646612 2018
38
Generalized Dowling-Degos disease with hypopigmented lesions: A diagnostic challenge. 61
29176251 2018
39
[Mutations in presenilin in Dowling-Degos disease: Association with follicular occlusion disorder and the notch-signalling pathway]. 61
29100615 2017
40
Galli-Galli Disease Presenting as a Lentigo-like Eruption: A Further Clinical Feature in the Wide Spectrum of Reticulate Pigment Disorders. 61
30064605 2017
41
Recognizing syndromic hidradenitis suppurativa: a review of the literature. 61
28696038 2017
42
Follicular Dowling-Degos Disease: A Rare Pigmentary Dermatosis. 61
29204397 2017
43
PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype? 61
28601418 2017
44
Updated review of genetic reticulate pigmentary disorders. 61
28407215 2017
45
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. 61
28287404 2017
46
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. 61
27479915 2017
47
Successful Management of Dowling-Degos Disease with Combination of Q-switched Nd: YAG and Fractional Carbon Dioxide Laser. 61
28529428 2017
48
Dermoscopy in General Dermatology: A Practical Overview. 61
27613297 2016
49
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. 61
27900998 2016
50
Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease. 61
26486618 2016

Variations for Dowling-Degos Disease

Expression for Dowling-Degos Disease

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

Pathways for Dowling-Degos Disease

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 PSENEN NOTCH1 NCSTN KRT5 KRT4 KRT14
2
Show member pathways
12.82 RFNG NOTCH2 NOTCH1 MFNG LFNG
3
Show member pathways
12.76 RFNG PSENEN POGLUT1 POFUT1 NOTCH2 NOTCH1
4
Show member pathways
12.42 RFNG PSENEN POFUT1 NOTCH2 NOTCH1 NCSTN
5 12.4 PSENEN NOTCH2 NOTCH1 NCSTN
6 12.14 PSENEN NOTCH2 NOTCH1 NCSTN LFNG
7
Show member pathways
12.11 RFNG PSENEN NOTCH1 NCSTN MFNG LFNG
8
Show member pathways
12.01 PSENEN NOTCH2 NOTCH1 NCSTN ADAM10
9
Show member pathways
12.01 RFNG POGLUT1 POFUT1 NOTCH2 NOTCH1 MFNG
10 11.98 PSENEN NOTCH2 NOTCH1 NCSTN
11
Show member pathways
11.76 KRT5 KRT4 KRT14
12
Show member pathways
11.57 XXYLT1 RFNG POGLUT1 POFUT1 MFNG LFNG
13 11.4 PSENEN NOTCH1 NCSTN ADAM10
14 11.12 NOTCH2 NOTCH1 ADAM10
15 11.11 RFNG NOTCH2 NOTCH1 NCSTN MFNG LFNG
16 11.03 PSENEN NCSTN ADAM10
17 11 RFNG PSENEN POFUT1 NOTCH2 NOTCH1 MFNG
18 10.79 PSENEN NCSTN
19 10.58 NOTCH1 LFNG

GO Terms for Dowling-Degos Disease

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.22 XXYLT1 RFNG PSENEN NOTCH2 NOTCH1 NCSTN
2 membrane GO:0016020 10.22 XXYLT1 RFNG PSENEN POFUT1 NOTCH2 NOTCH1
3 endoplasmic reticulum GO:0005783 9.76 XXYLT1 PSENEN POGLUT1 POFUT1 NOTCH1 NCSTN
4 keratin filament GO:0045095 9.61 KRT5 KRT4 KRT14
5 integral component of Golgi membrane GO:0030173 9.54 RFNG MFNG LFNG
6 Golgi membrane GO:0000139 9.5 RFNG NOTCH2 NOTCH1 MFNG LFNG B3GNT2
7 Golgi apparatus GO:0005794 9.28 RFNG PSENEN NOTCH1 NCSTN MFNG LFNG
8 gamma-secretase complex GO:0070765 9.26 PSENEN NCSTN

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.95 PSENEN NOTCH2 NOTCH1 NCSTN ADAM10
2 protein glycosylation GO:0006486 9.87 POGLUT1 POFUT1 FUT5 B3GNT2
3 cornification GO:0070268 9.82 KRT5 KRT4 KRT14
4 epidermis development GO:0008544 9.82 NOTCH1 KRT5 KRT14
5 positive regulation of protein binding GO:0032092 9.78 RFNG MFNG LFNG
6 O-glycan processing GO:0016266 9.78 XXYLT1 POFUT1 GXYLT1 B3GNT2
7 protein processing GO:0016485 9.77 PSENEN NCSTN ADAM10
8 pattern specification process GO:0007389 9.76 RFNG MFNG LFNG
9 protein O-linked glycosylation GO:0006493 9.76 POGLUT1 POFUT1 EOGT B3GNT2
10 somitogenesis GO:0001756 9.73 POGLUT1 POFUT1 LFNG
11 membrane protein ectodomain proteolysis GO:0006509 9.67 PSENEN NCSTN ADAM10
12 membrane protein intracellular domain proteolysis GO:0031293 9.65 PSENEN NCSTN
13 positive regulation of Notch signaling pathway GO:0045747 9.65 RFNG POGLUT1 NOTCH1 MFNG LFNG
14 pulmonary valve morphogenesis GO:0003184 9.64 NOTCH2 NOTCH1
15 left/right axis specification GO:0070986 9.63 NOTCH2 NOTCH1
16 hemidesmosome assembly GO:0031581 9.63 KRT5 KRT14
17 Notch signaling pathway GO:0007219 9.63 PSENEN POFUT1 NOTCH2 NOTCH1 NCSTN ADAM10
18 Notch signaling involved in heart development GO:0061314 9.62 NOTCH2 NOTCH1
19 amyloid precursor protein metabolic process GO:0042982 9.62 PSENEN NCSTN
20 Notch receptor processing GO:0007220 9.61 PSENEN NCSTN
21 amyloid precursor protein catabolic process GO:0042987 9.61 PSENEN NCSTN ADAM10
22 interleukin-4 secretion GO:0072602 9.6 NOTCH2 NOTCH1
23 regulation of somitogenesis GO:0014807 9.58 NOTCH1 LFNG
24 marginal zone B cell differentiation GO:0002315 9.58 NOTCH2 MFNG LFNG
25 regulation of developmental process GO:0050793 9.54 NOTCH2 NOTCH1
26 Notch receptor processing, ligand-dependent GO:0035333 9.54 PSENEN NCSTN ADAM10
27 compartment pattern specification GO:0007386 9.52 NOTCH1 LFNG
28 negative regulation of growth rate GO:0045967 9.51 NOTCH2 NOTCH1
29 amyloid-beta formation GO:0034205 9.5 PSENEN NCSTN ADAM10
30 protein O-linked fucosylation GO:0036066 9.26 RFNG POFUT1 MFNG LFNG
31 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 9.56 RFNG MFNG LFNG B3GNT2
3 fucosyltransferase activity GO:0008417 9.37 POFUT1 FUT5
4 UDP-xylosyltransferase activity GO:0035252 9.33 XXYLT1 POGLUT1 GXYLT1
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 for Dowling-Degos Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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