Aliases & Classifications for Acne Inversa, Familial, 3

MalaCards integrated aliases for Acne Inversa, Familial, 3:

Name: Acne Inversa, Familial, 3 53 71 28 13 69
Acninv3 53 71
Hidradenitis Suppurativa Familial 71
Acne Inversa Familial 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
marked variability in severity of the skin lesions
males more frequently have severe lesions
skin lesions on back, face, nape of neck, and waist tend to be mild


HPO:

31
acne inversa, familial, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 613737
MedGen 39 C3151038
MeSH 41 D017497
SNOMED-CT via HPO 65 263681008 83341004 59393003
UMLS 69 C3151038

Summaries for Acne Inversa, Familial, 3

OMIM : 53 Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of familial acne inversa, see 142690. (613737)

MalaCards based summary : Acne Inversa, Familial, 3, also known as acninv3, is related to acne inversa, familial, 2, with or without dowling-degos disease and acne inversa, familial, 1, and has symptoms including chronic furunculosis, perifolliculitis and acne inversa. An important gene associated with Acne Inversa, Familial, 3 is PSEN1 (Presenilin 1). Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 71 Acne inversa, familial, 3: A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty.

Related Diseases for Acne Inversa, Familial, 3

Diseases related to Acne Inversa, Familial, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acne inversa, familial, 2, with or without dowling-degos disease 12.7
2 acne inversa, familial, 1 12.7
3 hidradenitis suppurativa 11.2
4 dowling-degos disease 1 10.1
5 malignant atrophic papulosis 10.0
6 dowling-degos disease 10.0

Graphical network of the top 20 diseases related to Acne Inversa, Familial, 3:



Diseases related to Acne Inversa, Familial, 3

Symptoms & Phenotypes for Acne Inversa, Familial, 3

Symptoms via clinical synopsis from OMIM:

53
SkinNailsHairSkin:
acne inversa (predominantly affecting armpit, groin, inner thigh, perianal and perineal, submammary, and buttock regions)


Clinical features from OMIM:

613737

Human phenotypes related to Acne Inversa, Familial, 3:

31
# Description HPO Frequency HPO Source Accession
1 chronic furunculosis 31 HP:0011132
2 perifolliculitis 31 HP:0012322
3 acne inversa 31 HP:0040154
4 recurrent cutaneous abscess formation 31 HP:0100838

Drugs & Therapeutics for Acne Inversa, Familial, 3

Search Clinical Trials , NIH Clinical Center for Acne Inversa, Familial, 3

Genetic Tests for Acne Inversa, Familial, 3

Genetic tests related to Acne Inversa, Familial, 3:

# Genetic test Affiliating Genes
1 Acne Inversa, Familial, 3 28 PSEN1

Anatomical Context for Acne Inversa, Familial, 3

MalaCards organs/tissues related to Acne Inversa, Familial, 3:

38
Skin

Publications for Acne Inversa, Familial, 3

Articles related to Acne Inversa, Familial, 3:

# Title Authors Year
1
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease. ( 27900998 )
2016

Variations for Acne Inversa, Familial, 3

ClinVar genetic disease variations for Acne Inversa, Familial, 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PSEN1 NM_000021.3(PSEN1): c.488A> G (p.His163Arg) single nucleotide variant Pathogenic rs63750590 GRCh37 Chromosome 14, 73653568: 73653568
2 PSEN1 NM_000021.3(PSEN1): c.737C> A (p.Ala246Glu) single nucleotide variant Pathogenic rs63750526 GRCh37 Chromosome 14, 73659540: 73659540
3 PSEN1 NM_000021.3(PSEN1): c.236C> T (p.Ala79Val) single nucleotide variant Pathogenic rs63749824 GRCh37 Chromosome 14, 73637653: 73637653
4 PSEN1 PSEN1, 1-BP DEL, 725C deletion Pathogenic

Expression for Acne Inversa, Familial, 3

Search GEO for disease gene expression data for Acne Inversa, Familial, 3.

Pathways for Acne Inversa, Familial, 3

GO Terms for Acne Inversa, Familial, 3

Sources for Acne Inversa, Familial, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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