AVA
MCID: ATR054
MIFTS: 29

Atrophoderma Vermiculata (AVA)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Atrophoderma Vermiculata

MalaCards integrated aliases for Atrophoderma Vermiculata:

Name: Atrophoderma Vermiculata 58 54 60
Atrophoderma Vermiculatum 54 30 6 74
Atrophodermia Reticulata Symmetrica Faciei 58 54
Folliculitis Ulerythematosa Reticulata 58 54
Atrophodermia Vermiculata 58 54
Honeycomb Atrophy 58 54
Folliculitis Ulerythematosa Reticulate 60
Burnett Schwartz Berberian Syndrome 74
Folliculitis Ulerythematosa 54
Atrophodermia Reticulata 54
Ava 58

Characteristics:

Orphanet epidemiological data:

60
atrophoderma vermiculata
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset typically in childhood although onset in late adolescence or early adulthood has been reported
typically sporadic occurrence


HPO:

33
atrophoderma vermiculata:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 209700
ICD10 34 L66.4
ICD10 via Orphanet 35 L66.4
UMLS via Orphanet 75 C0263429
Orphanet 60 ORPHA79100
MedGen 43 C0263429

Summaries for Atrophoderma Vermiculata

OMIM : 58 Atrophoderma vermiculata, a form of keratosis pilaris atrophicans, typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. More rarely, the atrophy may extend to the upper lip, helices, ear lobes, and, in some cases, the limbs. The degree of inflammation, the presence of milia, and the extent of follicular plugs are variable (summary by Luria and Conologue, 2009). (209700)

MalaCards based summary : Atrophoderma Vermiculata, also known as atrophoderma vermiculatum, is related to keratosis pilaris atrophicans and rombo syndrome. An important gene associated with Atrophoderma Vermiculata is LRP1 (LDL Receptor Related Protein 1). Affiliated tissues include skin and heart, and related phenotypes are abnormality of the cardiovascular system and milia

Wikipedia : 77 Atrophodermia vermiculata presents with erythematous follicular papules on the cheeks in childhood and,... more...

Related Diseases for Atrophoderma Vermiculata

Diseases related to Atrophoderma Vermiculata via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 keratosis pilaris atrophicans 11.4
2 rombo syndrome 11.4
3 verbal auditory agnosia 11.3
4 anthrax disease 10.6
5 lupus erythematosus 10.5
6 malignant syringoma 10.4
7 granulosis rubra nasi 10.4
8 quinquaud's decalvans folliculitis 10.4
9 folliculitis 10.3
10 nevus, epidermal 10.3
11 cataract 10.3
12 loeys-dietz syndrome 10.3
13 keratosis 10.3
14 melkersson-rosenthal syndrome 10.3
15 inhalation anthrax 10.2
16 body mass index quantitative trait locus 1 10.2
17 heart disease 10.0
18 coronary heart disease 1 10.0
19 stroke, ischemic 10.0
20 osteoporosis 10.0

Graphical network of the top 20 diseases related to Atrophoderma Vermiculata:



Diseases related to Atrophoderma Vermiculata

Symptoms & Phenotypes for Atrophoderma Vermiculata

Human phenotypes related to Atrophoderma Vermiculata:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the cardiovascular system 33 HP:0001626
2 milia 33 HP:0001056
3 leukonychia 33 HP:0001820
4 atrophodermia vermiculata 33 HP:0100837

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
milia
small, pit-like, atrophic areas (0.25-2.0mm) predominantly on cheeks

Head And Neck Face:
pit-like depressions on the skin of cheeks and preauricular areas

Skin Nails Hair Nails:
leukonychia

Skin Nails Hair Skin Histology:
thin epidermis
atrophic hair follicles
numerous small, round, keratin-containing cysts
follicular plugs

Clinical features from OMIM:

209700

Drugs & Therapeutics for Atrophoderma Vermiculata

Search Clinical Trials , NIH Clinical Center for Atrophoderma Vermiculata

Genetic Tests for Atrophoderma Vermiculata

Genetic tests related to Atrophoderma Vermiculata:

# Genetic test Affiliating Genes
1 Atrophoderma Vermiculatum 30

Anatomical Context for Atrophoderma Vermiculata

MalaCards organs/tissues related to Atrophoderma Vermiculata:

42
Skin, Heart

Publications for Atrophoderma Vermiculata

Articles related to Atrophoderma Vermiculata:

(show all 19)
# Title Authors Year
1
A Case of Atrophoderma Vermiculatum Showing a Good Response to Topical Tretinoin. ( 29386852 )
2018
2
Atrophoderma Vermiculatum in a 12-Year-Old Girl. ( 30575514 )
2018
3
Extensive unilateral atrophoderma vermiculatum associated with ipsilateral congenital cataract. ( 26179135 )
2016
4
Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome. ( 25564957 )
2015
5
Atrophoderma vermiculatum. ( 25129015 )
2014
6
Atrophoderma vermiculatum: a case report and review of the literature on keratosis pilaris atrophicans. ( 19326693 )
2009
7
A case of atrophoderma vermiculatum responding to systemic isotretinoin. ( 21886736 )
2009
8
Atrophoderma vermiculatum with Melkersson-Rosenthal syndrome. ( 15604554 )
2005
9
Laser treatment of atrophoderma vermiculata. ( 11260551 )
2001
10
Unilateral atrophic skin lesion with features of atrophoderma vermiculatum: a variant of the epidermal nevus syndrome? ( 10906657 )
2000
11
Atrophoderma vermiculata along Blaschko lines. ( 10337689 )
1999
12
Folliculitis ulerythematosa reticulata (atrophoderma vermiculata): early detection of a case with unilateral lesions. ( 9720693 )
1998
13
A case of atrophoderma vermiculatum responding to isotretinoin. ( 9692315 )
1998
14
Unilateral atrophoderma vermiculatum. ( 20948104 )
1996
15
Honeycomb atrophy on the right cheek. Folliculitis ulerythematosa reticulata (atrophoderma vermiculatum). ( 3389853 )
1988
16
Atrophoderma vermiculatum. Case reports and review. ( 3280621 )
1988
17
Atrophoderma Vermiculatum in a Father and Son. ( 28145354 )
1987
18
[Eruptive generalized syringomas, milium and atrophoderma vermiculata. Nicolau and Balus' syndrome (author's transl)]. ( 7262384 )
1981
19
Atrophoderma vermiculatum (?). ( 21015879 )
1946

Variations for Atrophoderma Vermiculata

ClinVar genetic disease variations for Atrophoderma Vermiculata:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP1 NM_002332.2(LRP1): c.3734A> G (p.Lys1245Arg) single nucleotide variant Pathogenic rs483353013 GRCh37 Chromosome 12, 57569429: 57569429
2 LRP1 NM_002332.2(LRP1): c.3734A> G (p.Lys1245Arg) single nucleotide variant Pathogenic rs483353013 GRCh38 Chromosome 12, 57175646: 57175646

Expression for Atrophoderma Vermiculata

Search GEO for disease gene expression data for Atrophoderma Vermiculata.

Pathways for Atrophoderma Vermiculata

GO Terms for Atrophoderma Vermiculata

Sources for Atrophoderma Vermiculata

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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