ACC
MCID: APL006
MIFTS: 50

Aplasia Cutis Congenita (ACC) malady

Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases categories
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Summaries for Aplasia Cutis Congenita

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NIH Rare Diseases:42 Aplasia cutis congenita is a condition in which there is congenital (present from birth) absence of skin, with or without the absence of underlying structures such as bone. it most commonly affects the scalp, but any location of the body can be affected. while most people with aplasia cutis congenita have no other abnormalities, some people have congenital malformations involving the cardiovascular (heart), 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); contributing factors may include teratogens, genes, trauma, and compromised skin perfusion.  last updated: 3/22/2010

MalaCards based summary: Aplasia Cutis Congenita, also known as scalp defect congenital, is related to adams-oliver syndrome 1 and adams oliver syndrome, and has symptoms including scalp/skull defect, skin hypoplasia/aplasia/atrophy and neural tube defect. An important gene associated with Aplasia Cutis Congenita is BMS1 (BMS1 ribosome biogenesis factor), and among its related pathways are Reelin Pathway (Cajal-Retzius cells) and G protein signaling Regulation of CDC42 activity. Affiliated tissues include skin, bone and heart, and related mouse phenotype reproductive system.

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

Description from OMIM:46 107600

Aliases & Classifications for Aplasia Cutis Congenita

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Sources:
21Genetics Home Reference, 62UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 48Orphanet, 46OMIM, 26ICD10 via Orphanet
See all sources

Aplasia Cutis Congenita, Aliases & Descriptions:

Name: Aplasia Cutis Congenita 42 20 22 44
Scalp Defect Congenital 42 21
Acc 21 62
Thyroid Hormone Plasma Membrane Transport Defect 62
Circumscribed Cutaneous Aplasia of the Vertex 48
Congenital Defect of the Skull and Scalp 21
Aplasia Cutis Congenita, Nonsyndromic 46
 
Nonsyndromic Aplasia Cutis Congenita 21
Congenital Defect of Skull and Scalp 42
Aplasia Cutis Congenita Nonsyndromic 42
Congenital Absence of Skin on Scalp 21
Aplasia Cutis Congenita Verticis 48
Congenital Ulcer of the Newborn 21
Accv 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases, Endocrine diseases
Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
circumscribed cutaneous aplasia of the vertex:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

OMIM46 107600
ICD10 via Orphanet26 Q84.8

Related Diseases for Aplasia Cutis Congenita

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Diseases in the Aplasia Cutis Congenita family:

Aplasia Cutis Congenita Dominant Aplasia Cutis Congenita Recessive

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

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1adams-oliver syndrome 130.7ARHGAP31
2adams oliver syndrome10.8
3epidermolysis bullosa10.7
4oliver syndrome10.7
5aplasia cutis congenita of limbs recessive10.7
6circumscribed cutaneous aplasia of the vertex10.6
7aplasia cutis congenita intestinal lymphangiectasia10.6
8charcot-marie-tooth type 1 aplasia cutis congenita10.6
9focal facial dermal dysplasia10.5
10alopecia10.5
11oculoectodermal syndrome10.5
12adenoiditis10.4
13tetralogy of fallot10.4
14retinitis10.4
15epidermolysis bullosa with pyloric atresia10.4
16aplasia cutis congenita dominant10.4
17aplasia cutis congenita recessive10.4
18motor sensory neuropathy type 1 aplasia cutis congenita10.4
19scalp ear nipple syndrome10.4
20split cord malformation10.4
21aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies10.4
22didymosis aplasticosebacea10.4
23focal facial dermal dysplasia type i10.4
24agenesis of the corpus callosum10.3
25peripheral vascular disease10.3
26vascular disease10.3
27arteriovenous fistula10.2
28antiphospholipid syndrome10.2
29cleft palate10.2
30situs inversus10.2
31periventricular leukomalacia10.2
32epidermolysis bullosa simplex10.2
33microcephaly10.2
34microphthalmia10.2
35esophageal atresia10.2
36syndactyly10.2
37sagittal sinus thrombosis10.2
38autosomal recessive disease10.2
39basal cell carcinoma10.2
40esophagitis10.2
41lipoma10.2
42myopia10.2
43neuropathy10.2
44synostosis10.2
45thyroiditis10.2
46anophthalmia/microphthalmia10.2
47enlarged parietal foramina10.2
48acalvaria10.2
49congenital contractures10.2
50cutis marmorata telangiectatica congenita10.2

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



Diseases related to aplasia cutis congenita

Symptoms for Aplasia Cutis Congenita

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Symptoms by clinical synopsis from OMIM:

107600

Clinical features from OMIM:

107600

Symptoms:

48 (show all 9)
  • scalp/skull defect
  • skin hypoplasia/aplasia/atrophy
  • neural tube defect
  • autosomal dominant inheritance
  • chronic skin infection/ulcerations/ulcers/cancrum
  • facial palsy
  • bone/osseous hypoplasia
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • autosomal recessive inheritance

HPO human phenotypes related to Aplasia Cutis Congenita:

(show all 10)
id Description Frequency HPO Source Accession
1 skull defect hallmark (90%) HP:0001362
2 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
3 spinal dysraphism hallmark (90%) HP:0010301
4 skin ulcer typical (50%) HP:0200042
5 abnormality of coagulation occasional (7.5%) HP:0001928
6 abnormality of bone mineral density occasional (7.5%) HP:0004348
7 facial palsy occasional (7.5%) HP:0010628
8 autosomal dominant inheritance HP:0000006
9 autosomal recessive inheritance HP:0000007
10 aplasia cutis congenita over the scalp vertex HP:0004471

Drugs & Therapeutics for Aplasia Cutis Congenita

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Drug clinical trials:

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Search NIH Clinical Center for Aplasia Cutis Congenita

Genetic Tests for Aplasia Cutis Congenita

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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

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MalaCards organs/tissues related to Aplasia Cutis Congenita:

32
Skin, Bone, Heart, Thyroid, Brain, Eye

Animal Models for Aplasia Cutis Congenita or affiliated genes

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MGI Mouse Phenotypes related to Aplasia Cutis Congenita:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.3RBPJ, COX7B, ACHE, RELN

Publications for Aplasia Cutis Congenita

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Articles related to Aplasia Cutis Congenita:

(show top 50)    (show all 255)
idTitleAuthorsYear
1
Aplasia cutis congenita of eyelid: case report. (23703630)
2013
2
Sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus syndrome. (22122611)
2012
3
Aplasia cutis congenita of the trunk associated with fetus papyraceous. (22777438)
2012
4
Multiple aplasia cutis congenita lesions located along Blaschko's lines in a patient with tetralogy of Fallot-A. (22826717)
2012
5
Management of aplasia cutis congenita of the scalp. (23147310)
2012
6
Aplasia cutis congenita and other anomalies associated with methimazole exposure during pregnancy. (21995270)
2011
7
Type V aplasia cutis congenita. (20220274)
2010
8
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
9
Aplasia cutis congenita associated with azathioprine. (20361680)
2009
10
Membranous aplasia cutis congenita: a recognizable lesion on prenatal sonography. (19778889)
2009
11
Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. (18348258)
2008
12
Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption. (17159513)
2007
13
Aplasia cutis congenita in a defined population from northwest Spain. (17155992)
2006
14
Aplasia cutis congenita (epitheliogenesis imperfecta) in swine: observations from a large breeding herd. (17121085)
2006
15
Adams-Oliver syndrome and isolated aplasia cutis congenita in two siblings. (17083897)
2006
16
Aplasia cutis congenita of the scalp: therapeutic modalities. (16936401)
2006
17
Aplasia cutis congenita of the trunk in a Saudi newborn. (15308410)
2004
18
Aplasia cutis congenita, polythelia, microcephaly, and developmental delay: a unique expression of polytopic field defect involving possible 'paradominant' inheritance? (14994248)
2004
19
Asymmetrical nonscalp aplasia cutis congenita: a case report. (15729867)
2004
20
Faun tail with aplasia cutis congenita and diastematomyelia. (15539899)
2004
21
Familial epidermolysis bullosa with aplasia cutis congenita: Bart's syndrome? (14673268)
2003
22
Reconstruction of aplasia cutis congenita (group V) of the trunk in a newborn. (12711994)
2003
23
Management of aplasia cutis congenita in a non-scalp location. (12479434)
2002
24
Surgical treatment of aplasia cutis congenita of the scalp associated with bilateral coronal synostosis. (12140414)
2002
25
Aplasia cutis congenita in surviving co-twins: four unrelated cases. (11841641)
2001
26
Reconstruction of aplasia cutis congenita of the trunk in a newborn infant using acellular allogenic dermal graft and cultured epithelial autografts. (10783107)
2000
27
Aplasia cutis congenita--etiological relationship to antiphospholipid syndrome? (10457858)
1999
28
Aplasia cutis congenita of the scalp associated with meningoencephalocele and situs inversus. (10671101)
1999
29
Autosomal dominant aplasia cutis congenita: report of a large Italian family and no hint for candidate chromosomal regions. (10651164)
1999
30
Pathological case of the month. Temporal triangular alopecia and aplasia cutis congenita. (9856438)
1998
31
Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22. (9747372)
1998
32
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. (9674902)
1998
33
Further examples of autosomal dominant transmission of nonsyndromic aplasia cutis congenita. (9415483)
1997
34
Conservative management of aplasia cutis congenita. (9179253)
1997
35
Aplasia cutis congenita after exposure to methimazole: a causal relationship? (8547058)
1995
36
Aplasia cutis congenita of the scalp in an infant exposed to valproic acid in utero. (7949818)
1994
37
Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams-Oliver syndrome. (1390145)
1992
38
Aplasia cutis congenita of the scalp: issues in its management. (1822131)
1991-1992
39
Large skull defect in aplasia cutis congenita treated by pericranial flap: long-term follow-up. (2006845)
1991
40
Bitemporal aplasia cutis congenita. (2616724)
1989
41
Increased amniotic acetylcholinesterase activity with a fetus papyraceus and aplasia cutis congenita. (2453823)
1988
42
Aplasia cutis congenita of the penis. (3443533)
1987
43
Aplasia cutis congenita: a clinical review and proposal for classification. (3514708)
1986
44
Total reconstruction of aplasia cutis congenita involving scalp, skull, and dura. (3513230)
1986
45
Aplasia cutis congenita. (6535776)
1984
46
Familial occurrence of aplasia cutis congenita. (7153405)
1982
47
Aplasia cutis congenita and the fetal scalp electrode. (900208)
1977
48
Proceedings: The syndrome of aplasia cutis congenita with terminal transverse defects of limbs. (953241)
1976
49
Congenital scalp defects: aplasia cutis congenita. (1110388)
1975
50
Congenital defects of the scalp. A surgical approach to aplasia cutis congenita. (4917433)
1970

Variations for Aplasia Cutis Congenita

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Expression for genes affiliated with Aplasia Cutis Congenita

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Expression patterns in normal tissues for genes affiliated with Aplasia Cutis Congenita

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Pathways for genes affiliated with Aplasia Cutis Congenita

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Pathways related to Aplasia Cutis Congenita according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4ITGB4, RELN
29.4ARHGAP31, DOCK6

Compounds for genes affiliated with Aplasia Cutis Congenita

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GO Terms for genes affiliated with Aplasia Cutis Congenita

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

idNameGO IDScoreTop Affiliating Genes
1central nervous system developmentGO:0074179.6COX7B, RELN
2response to woundingGO:0096119.4ITGB4, ACHE
3cell adhesionGO:0071558.7ITGB4, ACHE, RELN

Products for genes affiliated with Aplasia Cutis Congenita

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Sources for Aplasia Cutis Congenita

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet