Dowling-Degos Disease 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Dowling-Degos Disease 2

MalaCards integrated aliases for Dowling-Degos Disease 2:

Name: Dowling-Degos Disease 2 ⁵⁷ ⁷³ ²⁸ ⁵ ³⁸ ⁷¹

Ddd2 ⁵⁷ ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
asymptomatic skin lesions begin on neck in third decade of life

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 615327

OMIM Phenotypic Series ⁵⁷ PS179850

MeSH ⁴³ D017444 D017495

MedGen ⁴⁰ C3809147 CN178067

SNOMED-CT via HPO ⁶⁹ 238629004 402341008 81845009

UMLS ⁷¹ C3809147

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Summaries for Dowling-Degos Disease 2

OMIM®: ⁵⁷ Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by Li et al., 2013). (615327) (Updated 08-Dec-2022)

MalaCards based summary: Dowling-Degos Disease 2, is also known as ddd2. An important gene associated with Dowling-Degos Disease 2 is POFUT1 (Protein O-Fucosyltransferase 1). Affiliated tissues include skin, and related phenotypes are hyperkeratotic papule and follicular hyperkeratosis

UniProtKB/Swiss-Prot: ⁷³ An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails.

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Related Diseases for Dowling-Degos Disease 2

Diseases in the Dowling-Degos Disease family:

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

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Symptoms & Phenotypes for Dowling-Degos Disease 2

Human phenotypes related to Dowling-Degos Disease 2:

³⁰

#	Description	HPO Frequency	HPO Source Accession
1	hyperkeratotic papule ³⁰	Occasional (7.5%)	HP:0045059
2	follicular hyperkeratosis ³⁰		HP:0007502
3	hypomelanotic macule ³⁰		HP:0009719
4	reticular hyperpigmentation ³⁰		HP:0007588

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skin Nails Hair Skin:
hyperpigmentation in a reticular pattern primarily on flexural skin
hypopigmentation in a reticular pattern primarily on flexural skin
hypopigmented macules on neck, chest, and back (in some patients)
hyperkeratotic papules, dark brown, on neck, chest, and back (in some patients)

Skin Nails Hair Skin Electron Microscopy:
small melanocytes
melanocytes lack melanosomes
normal keratin filaments

Skin Nails Hair Skin Histology:
hyperkeratosis with multiple horny follicular plugs
papillary epidermal downgrowth
abnormal basal pigment-granule distribution
sporadic melanin granules and melanophages in superficial layer of dermis

Clinical features from OMIM®:

615327 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Dowling-Degos Disease 2

Search Clinical Trials, NIH Clinical Center for Dowling-Degos Disease 2

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Genetic Tests for Dowling-Degos Disease 2

Genetic tests related to Dowling-Degos Disease 2:

#	Genetic test	Affiliating Genes
1	Dowling-Degos Disease 2 ²⁸	POFUT1

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Anatomical Context for Dowling-Degos Disease 2

Organs/tissues related to Dowling-Degos Disease 2:

MalaCards : Skin

ODiseA: Skin

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Publications for Dowling-Degos Disease 2

Articles related to Dowling-Degos Disease 2:

#	Title	Authors	PMID	Year
1	Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. ⁵⁷ ⁵	Li M...Yao Z	23684010	2013
2	Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions. ⁵	Atzmony L...Choate KA	31566882	2019
3	Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura. ⁵	Buket Basmanav F...Betz RC	25229252	2015
4	The spectrum of reticulate pigment disorders of the skin revisited. ⁵⁷	Muller CS...Vogt T	23018017	2012
5	Fucosylated Proteome Profiling Identifies a Fucosylated, Non-Ribosomal, Stress-Responsive Species of Ribosomal Protein S3. ⁶²	Watson G...Lau E	34070332	2021
6	Appraisal of gene action for indeterminate growth in mungbean [Vigna radiata (L.) Wilczek]. ⁶²	Iqbal J...Ali A	26388879	2015
7	Comparison of collisional radiative models for edge electron density reconstruction from Li I (2s-2p) emission profiles. ⁶²	Stoschus H...Schweinzer J	23126851	2012

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Genes for Dowling-Degos Disease 2

Genes related to Dowling-Degos Disease 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	POFUT1	Protein O-Fucosyltransferase 1	Protein Coding	1008.03	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	23684010 25229252 31566882

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Variations for Dowling-Degos Disease 2

ClinVar genetic disease variations for Dowling-Degos Disease 2:

⁵ (show all 42)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	POFUT1	NM_015352.2(POFUT1):c.430G>T (p.Glu144Ter)	SNV	Pathogenic	56808	rs398123038	GRCh37: 20:30804412-30804412 GRCh38: 20:32216609-32216609
2	POFUT1	NM_015352.2(POFUT1):c.482del (p.Lys161fs)	DEL	Pathogenic	56809	rs886041033	GRCh37: 20:30804463-30804463 GRCh38: 20:32216660-32216660
3	POFUT1	NM_015352.2(POFUT1):c.889_890del (p.Trp297fs)	DEL	Pathogenic	1344696		GRCh37: 20:30818775-30818776 GRCh38: 20:32230972-32230973
4	POFUT1	NM_015352.2(POFUT1):c.289C>T (p.Gln97Ter)	SNV	Pathogenic	574378	rs1569152303	GRCh37: 20:30803114-30803114 GRCh38: 20:32215311-32215311
5	POFUT1	NM_015352.2(POFUT1):c.125-15A>G	SNV	Uncertain Significance	1421678		GRCh37: 20:30797859-30797859 GRCh38: 20:32210056-32210056
6	POFUT1	NM_015352.2(POFUT1):c.1036C>G (p.Gln346Glu)	SNV	Uncertain Significance	1492767		GRCh37: 20:30822333-30822333 GRCh38: 20:32234530-32234530
7	POFUT1	NM_015352.2(POFUT1):c.671C>A (p.Ala224Asp)	SNV	Uncertain Significance	1461585		GRCh37: 20:30816194-30816194 GRCh38: 20:32228391-32228391
8	POFUT1	NM_015352.2(POFUT1):c.814C>T (p.Arg272Cys)	SNV	Uncertain Significance	1370881		GRCh37: 20:30818700-30818700 GRCh38: 20:32230897-32230897
9	POFUT1	NM_015352.2(POFUT1):c.90C>G (p.Asp30Glu)	SNV	Uncertain Significance	570946	rs368413950	GRCh37: 20:30795834-30795834 GRCh38: 20:32208031-32208031
10	POFUT1	NM_015352.2(POFUT1):c.637G>C (p.Val213Leu)	SNV	Uncertain Significance	940614	rs578147902	GRCh37: 20:30816160-30816160 GRCh38: 20:32228357-32228357
11	POFUT1	NM_015352.2(POFUT1):c.784A>G (p.Met262Val)	SNV	Uncertain Significance	1046967	rs748328963	GRCh37: 20:30818670-30818670 GRCh38: 20:32230867-32230867
12	POFUT1	NM_015352.2(POFUT1):c.416C>T (p.Thr139Met)	SNV	Uncertain Significance	1058589		GRCh37: 20:30803241-30803241 GRCh38: 20:32215438-32215438
13	POFUT1	NM_015352.2(POFUT1):c.394C>G (p.Gln132Glu)	SNV	Uncertain Significance	1716975		GRCh37: 20:30803219-30803219 GRCh38: 20:32215416-32215416
14	POFUT1	NM_015352.2(POFUT1):c.1155G>A (p.Arg385=)	SNV	Likely Benign	541310	rs780991231	GRCh37: 20:30822452-30822452 GRCh38: 20:32234649-32234649
15	POFUT1	NM_015352.2(POFUT1):c.542+19G>A	SNV	Likely Benign	1568454		GRCh37: 20:30804543-30804543 GRCh38: 20:32216740-32216740
16	POFUT1	NM_015352.2(POFUT1):c.234T>G (p.Pro78=)	SNV	Likely Benign	1096718		GRCh37: 20:30797983-30797983 GRCh38: 20:32210180-32210180
17	POFUT1	NM_015352.2(POFUT1):c.365G>A (p.Arg122Gln)	SNV	Likely Benign	1125214		GRCh37: 20:30803190-30803190 GRCh38: 20:32215387-32215387
18	POFUT1	NM_015352.2(POFUT1):c.144C>T (p.Ala48=)	SNV	Likely Benign	1157507		GRCh37: 20:30797893-30797893 GRCh38: 20:32210090-32210090
19	POFUT1	NM_015352.2(POFUT1):c.836C>T (p.Thr279Met)	SNV	Likely Benign	1533470		GRCh37: 20:30818722-30818722 GRCh38: 20:32230919-32230919
20	POFUT1	NM_015352.2(POFUT1):c.1128C>T (p.Phe376=)	SNV	Likely Benign	1642667		GRCh37: 20:30822425-30822425 GRCh38: 20:32234622-32234622
21	POFUT1	NM_015352.2(POFUT1):c.600C>T (p.Pro200=)	SNV	Likely Benign	1536532		GRCh37: 20:30816123-30816123 GRCh38: 20:32228320-32228320
22	POFUT1	NM_015352.2(POFUT1):c.1032C>T (p.Leu344=)	SNV	Likely Benign	1560693		GRCh37: 20:30822329-30822329 GRCh38: 20:32234526-32234526
23	POFUT1	NM_015352.2(POFUT1):c.736-12C>T	SNV	Benign	1554589		GRCh37: 20:30818610-30818610 GRCh38: 20:32230807-32230807
24	POFUT1	NM_015352.2(POFUT1):c.542+10G>T	SNV	Benign	1543816		GRCh37: 20:30804534-30804534 GRCh38: 20:32216731-32216731
25	POFUT1	NM_015352.2(POFUT1):c.736-13C>T	SNV	Benign	1548923		GRCh37: 20:30818609-30818609 GRCh38: 20:32230806-32230806
26	POFUT1	NM_015352.2(POFUT1):c.735+11C>A	SNV	Benign	1657624		GRCh37: 20:30816269-30816269 GRCh38: 20:32228466-32228466
27	POFUT1	NM_015352.2(POFUT1):c.588A>G (p.Pro196=)	SNV	Benign	474295	rs6579005	GRCh37: 20:30816111-30816111 GRCh38: 20:32228308-32228308
28	POFUT1	NM_015352.2(POFUT1):c.964C>T (p.Leu322Phe)	SNV	Benign	474296	rs17268666	GRCh37: 20:30818850-30818850 GRCh38: 20:32231047-32231047
29	POFUT1	NM_015352.2(POFUT1):c.1042G>A (p.Asp348Asn)	SNV	Benign	1592932		GRCh37: 20:30822339-30822339 GRCh38: 20:32234536-32234536
30	POFUT1	NM_015352.2(POFUT1):c.736-11G>A	SNV	Benign	1601343		GRCh37: 20:30818611-30818611 GRCh38: 20:32230808-32230808
31	POFUT1	NM_015352.2(POFUT1):c.542+15T>C	SNV	Benign	1647753		GRCh37: 20:30804539-30804539 GRCh38: 20:32216736-32216736
32	POFUT1	NM_015352.2(POFUT1):c.542+11G>T	SNV	Benign	445499	rs139014980	GRCh37: 20:30804535-30804535 GRCh38: 20:32216732-32216732
33	POFUT1	NM_015352.2(POFUT1):c.741C>T (p.Asn247=)	SNV	Benign	1165427		GRCh37: 20:30818627-30818627 GRCh38: 20:32230824-32230824
34	POFUT1	NM_015352.2(POFUT1):c.75T>C (p.Pro25=)	SNV	Benign	683580	rs1923095	GRCh37: 20:30795819-30795819 GRCh38: 20:32208016-32208016
35	POFUT1	NM_015352.2(POFUT1):c.147T>C (p.Asp49=)	SNV	Benign	760405	rs113552438	GRCh37: 20:30797896-30797896 GRCh38: 20:32210093-32210093
36	POFUT1	NM_015352.2(POFUT1):c.867G>A (p.Glu289=)	SNV	Benign	1169451		GRCh37: 20:30818753-30818753 GRCh38: 20:32230950-32230950
37	POFUT1	NM_015352.2(POFUT1):c.736-5C>T	SNV	Benign	759691	rs550972707	GRCh37: 20:30818617-30818617 GRCh38: 20:32230814-32230814
38	POFUT1	NM_015352.2(POFUT1):c.900G>A (p.Ser300=)	SNV	Benign	710154	rs78861748	GRCh37: 20:30818786-30818786 GRCh38: 20:32230983-32230983
39	POFUT1	NM_015352.2(POFUT1):c.751A>G (p.Met251Val)	SNV	Benign	719060	rs79984831	GRCh37: 20:30818637-30818637 GRCh38: 20:32230834-32230834
40	POFUT1	NM_015352.2(POFUT1):c.937G>A (p.Glu313Lys)	SNV	Benign	774965	rs35968884	GRCh37: 20:30818823-30818823 GRCh38: 20:32231020-32231020
41	POFUT1	NM_015352.2(POFUT1):c.1158C>T (p.Asp386=)	SNV	Benign	778880	rs7263390	GRCh37: 20:30822455-30822455 GRCh38: 20:32234652-32234652
42	POFUT1	NM_015352.2(POFUT1):c.542+11G>C	SNV	Benign	1170434		GRCh37: 20:30804535-30804535 GRCh38: 20:32216732-32216732

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Expression for Dowling-Degos Disease 2

Search GEO for disease gene expression data for Dowling-Degos Disease 2.

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Pathways for Dowling-Degos Disease 2

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GO Terms for Dowling-Degos Disease 2

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Sources for Dowling-Degos Disease 2

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

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⁸ Cosmic

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¹⁰ DGIdb

¹¹ Disease Ontology

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

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³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

DDD2 MCID: DWL003 MIFTS: 24	Dowling-Degos Disease 2 (DDD2) Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Dowling-Degos Disease 2 (DDD2)

Aliases & Classifications for Dowling-Degos Disease 2

MalaCards integrated aliases for Dowling-Degos Disease 2:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Dowling-Degos Disease 2

Related Diseases for Dowling-Degos Disease 2

Diseases in the Dowling-Degos Disease family:

Symptoms & Phenotypes for Dowling-Degos Disease 2

Human phenotypes related to Dowling-Degos Disease 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Dowling-Degos Disease 2

Genetic Tests for Dowling-Degos Disease 2

Genetic tests related to Dowling-Degos Disease 2:

Anatomical Context for Dowling-Degos Disease 2

Organs/tissues related to Dowling-Degos Disease 2:

Publications for Dowling-Degos Disease 2

Articles related to Dowling-Degos Disease 2:

Genes for Dowling-Degos Disease 2

Genes related to Dowling-Degos Disease 2 (1 elite genes):

Variations for Dowling-Degos Disease 2

ClinVar genetic disease variations for Dowling-Degos Disease 2:

Expression for Dowling-Degos Disease 2

Pathways for Dowling-Degos Disease 2

GO Terms for Dowling-Degos Disease 2

Sources for Dowling-Degos Disease 2