ACC
MCID: APL006
MIFTS: 47

Aplasia Cutis Congenita (ACC) malady

Nephrological diseases, Skin diseases, Metabolic diseases, Blood diseases categories

Summaries for Aplasia Cutis Congenita

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Aplasia Cutis Congenita, also known as scalp defect congenital, is related to epidermolysis bullosa and congenital porphyria, and has symptoms including thrombocytopenia/thrombopenia, immunodeficiency/increased susceptibility to infections/recurrent infections and mutiple fractures/bone fragility. An important gene associated with Aplasia Cutis Congenita is GATA1 (GATA binding protein 1 (globin transcription factor 1)), and among its related pathways are Notch-mediated HES/HEY network and G-protein signaling Regulation of CDC42 activity. The compounds uroporphyrinogen-iii and porphobilinogen have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related mouse phenotypes are respiratory system and integument.

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

Description from OMIM:46 263700

Aliases & Classifications for Aplasia Cutis Congenita

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48Orphanet, 21Genetics Home Reference, 42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
congenital erythropoietic porphyria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Adult


Aliases & Descriptions:

aplasia cutis congenita 42 20 22 44
scalp defect congenital 42 21
congenital defect of the skull and scalp 21
aplasia cutis congenita nonsyndromic 42
congenital defect of skull and scalp 42
nonsyndromic aplasia cutis congenita 21
congenital erythropoietic porphyria 48
congenital absence of skin on scalp 21
congenital ulcer of the newborn 21
günther disease 48
cep 48
acc 21


External Ids:

OMIM46 263700
ICD10 via Orphanet26 E80.0
SNOMED-CT via Orphanet57 22935002, 67312003

Related Diseases for Aplasia Cutis Congenita

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17GeneCards, 18GeneDecks
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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 115)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa31.0ITGB4, ITGA6
2congenital porphyria30.9GATA1, UROS
3epidermolysis bullosa with pyloric atresia30.8ITGA6, ITGB4
4congenital erythropoietic porphyria11.3
5porphyria11.3
6aplasia cutis congenita intestinal lymphangiectasia10.5
7aplasia cutis congenita of limbs recessive10.5
8charcot-marie-tooth type 1 aplasia cutis congenita10.5
9alopecia10.4
10adams oliver syndrome10.4
11oculoectodermal syndrome10.4
12circumscribed cutaneous aplasia of the vertex10.4
13adenoid cystic carcinoma10.4
14adenoiditis10.4
15tetralogy of fallot10.3
16congenital heart defect10.3
17retinitis10.3
18aplasia cutis congenita dominant10.3
19aplasia cutis congenita recessive10.3
20scalp ear nipple syndrome10.3
21motor sensory neuropathy type 1 aplasia cutis congenita10.3
22aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies10.3
23acute porphyria10.3
24hepatitis10.3
25congenital extrahepatic portosystemic shunt10.3
26peripheral vascular disease10.2
27adrenocortical carcinoma10.2
28vascular disease10.2
29corpus callosum agenesis10.2
30arteriovenous fistula10.2
31periventricular leukomalacia10.2
32antiphospholipid syndrome10.2
33epidermolysis bullosa simplex10.2
34syndactyly10.2
35sagittal sinus thrombosis10.2
36microcephaly10.2
37volkmann contracture10.2
38microphthalmia10.2
39cleft palate10.2
40situs inversus10.2
41esophageal atresia10.2
42autosomal recessive disease10.2
43basal cell carcinoma10.2
44esophagitis10.2
45hereditary sensory neuropathy10.2
46lipoma10.2
47myopia10.2
48neuropathy10.2
49synostosis10.2
50thyroiditis10.2

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



Diseases related to aplasia cutis congenita

Clinical Features for Aplasia Cutis Congenita

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46OMIM, 48Orphanet
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Clinical features from OMIM:

263700

Symptoms:

48 (show all 14)
  • thrombocytopenia/thrombopenia
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • mutiple fractures/bone fragility
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • autosomal recessive inheritance
  • porphyrins metabolism anomalies/porphyria
  • hemolytic anemia
  • auto-aggressivity/auto-mutilation
  • abnormal colour of the urine/cholic/dark urines
  • splenomegaly
  • hirsutism/hypertrichosis/increased body hair
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • skin photosensitivity
  • dental staining anomaly/spotted teeth/erythrodontia

Drugs & Therapeutics for Aplasia Cutis Congenita

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Aplasia Cutis Congenita

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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

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32MalaCards
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MalaCards organs/tissues related to Aplasia Cutis Congenita:

32
Skin, Bone, Heart

Animal Models for Aplasia Cutis Congenita or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Aplasia Cutis Congenita:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.1GATA1, RBPJ, ITGB4, ITGA6, ACHE
2MP:00107717.5RELN, ITGA6, ITGB4, RBPJ, GATA1, UROS
3MP:00107687.2ACHE, RELN, ITGA6, ITGB4, RBPJ, GATA1

Publications for Aplasia Cutis Congenita

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Genetic Variations for Aplasia Cutis Congenita

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Expression for genes affiliated with Aplasia Cutis Congenita

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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

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37NCBI BioSystems Database, 12EMD Millipore, 53Reactome, 51QIAGEN, 29KEGG
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Compounds for genes affiliated with Aplasia Cutis Congenita

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Aplasia Cutis Congenita according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1uroporphyrinogen-iii449.9GATA1, UROS
2porphobilinogen44 11 2411.8GATA1, UROS
35-aminolevulinic acid44 2410.6UROS, GATA1
4kalinin449.5ITGA6, ITGB4
5serine448.3ACHE, RELN, ITGB4, GATA1, UROS

GO Terms for genes affiliated with Aplasia Cutis Congenita

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

idNameGO IDScoreTop Affiliating Genes
1basal plasma membraneGO:0099259.5ITGA6, ITGB4
2hemidesmosomeGO:0300569.4ITGA6, ITGB4
3integrin complexGO:0083059.2ITGA6, ITGB4

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

idNameGO IDScoreTop Affiliating Genes
1response to woundingGO:0096119.8ACHE, ITGB4
2hemidesmosome assemblyGO:0315819.4ITGA6, ITGB4
3filopodium assemblyGO:0468479.2ITGA6, ITGB4

Molecular functions related to Aplasia Cutis Congenita according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:0009789.7RBPJ, GATA1

Products for genes affiliated with Aplasia Cutis Congenita

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet