ACC
MCID: APL006
MIFTS: 41

Aplasia Cutis Congenita (ACC) malady

Skin category

Summaries for Aplasia Cutis Congenita

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Aplasia cutis congenita is a condition in which there is a congenital (present from birth) absence of skin with or without the absence of underlying structures such as bone. this absence of skin most commonly affects the scalp, but any location of the body surface can be affected, including the truck, arms, and legs. most patients with aplasia cutis congenita have no other abnormalities, although the condition may be associated with congenital malformations involving the cardiovascular, gastrointestinal, genitourinary, and central nervous systems. the cause of this condition is unclear and appears to be multifactorial (many different factors appear to play a role); teratogens, genetic factors, trauma, and compromised skin perfusion each seem to play a role.  last updated: 3/22/2010

MalaCards: Aplasia Cutis Congenita, also known as scalp defect congenital, is related to epidermolysis bullosa with pyloric atresia and adams oliver syndrome. An important gene associated with Aplasia Cutis Congenita is ACHE (acetylcholinesterase), and among its related pathways are G-protein signaling Regulation of CDC42 activity and Phagocytosis of Microbes. The compound kalinin have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and brain, and related mouse phenotypes are respiratory system and vision/eye.

Genetics Home Reference:21 Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped.

Wikipedia:64 Aplasia cutis congenita (also known as \"Cutis aplasia,\" \"Congenital absence of skin,\" and... more...

Aliases & Classifications for Aplasia Cutis Congenita

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin


Aliases & Descriptions:

aplasia cutis congenita 43 20 22 45
scalp defect congenital 43 21
congenital defect of the skull and scalp 21
aplasia cutis congenita nonsyndromic 43
congenital defect of skull and scalp 43
nonsyndromic aplasia cutis congenita 21
congenital absence of skin on scalp 21
congenital ulcer of the newborn 21
acc 21


Related Diseases for Aplasia Cutis Congenita

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Aplasia Cutis Congenita via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 102)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa with pyloric atresia30.3ITGB4, ITGA6
2adams oliver syndrome10.7
3oliver syndrome10.7
4aplasia cutis congenita recessive10.7
5n syndrome10.6
6aplasia cutis congenita intestinal lymphangiectasia10.6
7aplasia cutis autosomal recessive10.6
8aplasia cutis congenita dominant10.6
9aplasia cutis congenita of limbs recessive10.6
10charcot-marie-tooth type 1 aplasia cutis congenita10.6
11alopecia10.5
12oculoectodermal syndrome10.5
13focal facial dermal dysplasia10.5
14circumscribed cutaneous aplasia of the vertex10.5
15scalp syndrome10.5
16adenoid cystic carcinoma10.4
17cutis marmorata telangiectatica congenita10.4
18scalp ear nipple syndrome10.4
19motor sensory neuropathy type 1 aplasia cutis congenita10.4
20aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies10.4
21didymosis aplasticosebacea10.4
22intestinal lymphangiectasia10.4
23corpus callosum agenesis10.3
24peripheral vascular disease10.2
25adrenocortical carcinoma10.2
26vascular disease10.2
27periventricular leukomalacia10.2
28antiphospholipid syndrome10.2
29epidermolysis bullosa simplex10.2
30syndactyly10.2
31sagittal sinus thrombosis10.2
32microcephaly10.2
33volkmann contracture10.2
34microphthalmia10.2
35cleft palate10.2
36situs inversus10.2
37esophageal atresia10.2
38autosomal recessive disease10.2
39basal cell carcinoma10.2
40synostosis10.2
41micro syndrome10.2
42anophthalmia/microphthalmia10.2
43enlarged parietal foramina10.2
44acalvaria10.2
45supernumerary nipples10.2
46jones hersh yusk syndrome10.2
47aplasia cutis myopia10.2
48giant congenital nevus10.2
49oculocerebrocutaneous syndrome10.2
50diastematomyelia10.2

Graphical network of the top 20 diseases related to Aplasia Cutis Congenita:



Diseases related to aplasia cutis congenita

Clinical Features for Aplasia Cutis Congenita

Drugs & Therapeutics for Aplasia Cutis Congenita

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Aplasia Cutis Congenita

Genetic Tests for Aplasia Cutis Congenita

Sources:
20GeneTests, 22GTR
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Genetic tests related to Aplasia Cutis Congenita:

id Genetic test Affiliating Genes
1 Aplasia Cutis Congenita20 22

Anatomical Context for Aplasia Cutis Congenita

Sources:
33MalaCards
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MalaCards organs/tissues related to Aplasia Cutis Congenita:

33
Skin, Spinal cord, Brain, Heart, Skeletal muscle, Small intestine, Thyroid, Fetal brain, Fetal thyroid

Animal Models for Aplasia Cutis Congenita or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Aplasia Cutis Congenita:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6ITGB4, RBPJ, ITGA6, ACHE
2MP:00053918.3ACHE, RELN, ITGA6, ITGB4
3MP:00053817.9RELN, RBPJ, ITGB4, ITGA6

Publications for Aplasia Cutis Congenita

Sources:
51PubMed
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Articles related to Aplasia Cutis Congenita:

(show top 50)    (show all 257)
idTitleAuthorsYear
1
Aplasia Cutis Congenita in a Setting of Fetus Papyraceus Associated with Small Fetal Abdominal Circumference and High Alpha-Fetoprotein and Amniotic Acetylcholinesterase. (24118049)
2013
2
A rare case of aplasia cutis congenita. (23737321)
2013
3
Management of aplasia cutis congenita of the scalp. (23147310)
2012
4
Aplasia cutis congenita of the trunk and scalp associated with fetus papyraceus. (21595672)
2011
5
Bullous aplasia cutis congenita: is hiv an association? (21772609)
2011
6
Aplasia cutis congenita of the scalp. (20963715)
2010
7
A case of extensive Aplasia Cutis Congenita with underlying skull defect and central nervous system malformation: discussion of large skin defects, complications, treatment and outcome. (19638992)
2009
8
Aplasia cutis congenita associated with azathioprine. (20361680)
2009
9
Membranous aplasia cutis congenita: a recognizable lesion on prenatal sonography. (19778889)
2009
10
Aplasia cutis congenita: a rare cutaneous sign of split cord malformations. (17910709)
2007
11
An adherent dressing for aplasia cutis congenita. (16039625)
2005
12
Aplasia cutis congenita of the trunk in a Saudi newborn. (15308410)
2004
13
Faun tail with aplasia cutis congenita and diastematomyelia. (15539899)
2004
14
Reconstruction aplasia cutis congenita (group V) of the trunk in a newborn. (15108937)
2004
15
Use of a water-vapour permeable polyurethane film (omiderm) in the non-surgical treatment of aplasia cutis congenita. (15370806)
2004
16
Giant aplasia cutis congenita without associated anomalies. (15078357)
2004
17
Reconstruction of aplasia cutis congenita (group V) of the trunk in a newborn. (12711994)
2003
18
Aplasia cutis congenita of the scalp, the skull, and the dura. (12841620)
2003
19
Ventricular diverticulum at the posterior horn of the lateral ventricle presenting as aplasia cutis congenita. (11862443)
2001
20
Focal facial dermal dysplasia or aplasia cutis congenita: a case with a hair collar. (11309038)
2001
21
Basal cell carcinoma in aplasia cutis congenita. (10876266)
2000
22
Aplasia cutis congenita. (17337967)
1999
23
Aplasia cutis congenita associated with fetus papyraceous. (10467502)
1999
24
Bilateral abdominal aplasia cutis congenita associated with atrial septal defect: a case report. (9144697)
1997
25
Familial aplasia cutis congenita of the scalp: a case report and review. (9395819)
1997
26
What's your diagnosis? Aplasia cutis congenita. (17377433)
1997
27
Aplasia cutis congenita with congenital contracture of knee. (8984053)
1995
28
Aplasia cutis congenita and enlarged parietal foramina (Catlin marks) in a family. (7670261)
1995
29
Aplasia cutis congenita of the scalp in an infant exposed to valproic acid in utero. (7949818)
1994
30
Familial aplasia cutis congenita associated with limb anomalies and tetralogy of Fallot. (8425804)
1993
31
Picture of the month. Aplasia cutis congenita. (8506843)
1993
32
Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: the diagnostic role of prenatal ultrasonography. (1279662)
1992
33
Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly: a new syndrome? (1488384)
1992
34
Aplasia cutis congenita of the scalp. (2286881)
1990
35
Aplasia cutis congenita associated with congenital heart defect, not a coincidence? (2519562)
1989
36
Aplasia cutis congenita: a clinical review and proposal for classification. (3514708)
1986
37
The association of aplasia cutis congenita with therapy of maternal thyroid disease. (3774652)
1986
38
Aplasia cutis congenita. (3841089)
1985
39
Familial occurrence of aplasia cutis congenita. (7153405)
1982
40
Aplasia cutis congenita associated with ectopia of the external ear. (7299254)
1981
41
Conservative management of aplasia cutis congenita: case report. (7207791)
1981
42
Recessive aplasia cutis congenita of the limbs. (7381866)
1980
43
Aplasia cutis congenita and the fetal scalp electrode. (900208)
1977
44
Hereditary aplasia cutis congenita and associated defects. Three instances in one family and a survey of reported cases. (862297)
1977
45
Letter: Emendation to "bitemporal aplasia cutis congenita". (4414211)
1974
46
Congenital absence of skin (aplasia cutis congenita). (4739812)
1973
47
Aplasia cutis congenita in three successive generations. (4724130)
1973
48
Congenital defects of the scalp. A surgical approach to aplasia cutis congenita. (4917433)
1970
49
Aplasia cutis congenita. (5536130)
1970
50
Congenital absence of skin (aplasia cutis congenita). (13782727)
1960

Genetic Variations for Aplasia Cutis Congenita

Expression for genes affiliated with Aplasia Cutis Congenita

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Aplasia Cutis Congenita

Search GEO for disease gene expression data for Aplasia Cutis Congenita.

Pathways for genes affiliated with Aplasia Cutis Congenita

Sources:
12EMD Millipore, 52QIAGEN, 38NCBI BioSystems Database, 54Reactome, 4Cell Signaling Technology, 30KEGG
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Compounds for genes affiliated with Aplasia Cutis Congenita

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45Novoseek
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Compounds related to Aplasia Cutis Congenita according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1kalinin459.5ITGA6, ITGB4

GO Terms for genes affiliated with Aplasia Cutis Congenita

Sources:
16Gene Ontology
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Cellular components related to Aplasia Cutis Congenita according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemidesmosomeGO:0300569.5ITGA6, ITGB4
2basement membraneGO:0056049.5ITGA6, ITGB4
3integrin complexGO:0083059.4ITGA6, ITGB4
4basal plasma membraneGO:0099259.2ITGA6, ITGB4

Biological processes related to Aplasia Cutis Congenita according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1response to woundingGO:0096119.8ACHE, ITGB4
2hemidesmosome assemblyGO:0315819.6ITGA6, ITGB4
3filopodium assemblyGO:0468479.6ITGA6, ITGB4
4integrin-mediated signaling pathwayGO:0072299.5ITGB4, ITGA6
5cell junction assemblyGO:0343299.5ITGA6, ITGB4
6cell-matrix adhesionGO:0071609.2ITGA6, ITGB4
7cell adhesionGO:0071558.8ACHE, RELN, ITGB4

Products for genes affiliated with Aplasia Cutis Congenita

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Sources for Aplasia Cutis Congenita

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet