MCID: APL006
MIFTS: 48

Aplasia Cutis Congenita

Categories: Bone diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Aplasia Cutis Congenita

MalaCards integrated aliases for Aplasia Cutis Congenita:

Name: Aplasia Cutis Congenita 54 38 30 56 6 41 74
Scalp Defect Congenital 54 26
Congenital Defect of the Skull and Scalp 26
Congenital Defect of Skull and Scalp 54
Aplasia Cutis Congenita Nonsyndromic 54
Nonsyndromic Aplasia Cutis Congenita 26
Congenital Absence of Skin on Scalp 26
Congenital Ulcer of the Newborn 26
Acc 26

Classifications:



External Ids:

KEGG 38 H01896
UMLS 74 C0282160

Summaries for Aplasia Cutis Congenita

NIH Rare Diseases : 54 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 blood flow to the skin. 

MalaCards based summary : Aplasia Cutis Congenita, also known as scalp defect congenital, is related to aplasia cutis congenita, nonsyndromic and epidermolysis bullosa junctionalis with pyloric atresia. An important gene associated with Aplasia Cutis Congenita is BMS1 (BMS1 Ribosome Biogenesis Factor), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and Wnt / Hedgehog / Notch. Affiliated tissues include skin, bone and heart, and related phenotypes are spinal dysraphism and aplasia cutis congenita over the scalp vertex

Genetics Home Reference : 26 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 : 77 Aplasia cutis congenita is a rare disorder characterized by congenital absence of skin. Frieden... more...

Related Diseases for Aplasia Cutis Congenita

Diseases in the Aplasia Cutis Congenita family:

Aplasia Cutis Congenita, Nonsyndromic

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

(show top 50) (show all 205)
# Related Disease Score Top Affiliating Genes
1 aplasia cutis congenita, nonsyndromic 34.5 BMS1 DLL4
2 epidermolysis bullosa junctionalis with pyloric atresia 33.3 ACHE ITGA6 ITGB4
3 adams-oliver syndrome 33.0 ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ
4 focal facial dermal dysplasia 32.5 CYP26C1 TWIST2
5 pyloric atresia 31.1 ITGA6 ITGB4
6 epidermolysis bullosa 30.7 COL7A1 ITGA6 ITGB4
7 oliver syndrome 30.3 ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ
8 aplasia cutis congenita with intestinal lymphangiectasia 12.8
9 aplasia cutis congenita of limbs recessive 12.8
10 aplasia cutis congenita, high myopia, and cone-rod dysfunction 12.5
11 aplasia cutis congenita of limbs, autosomal recessive 12.4
12 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita 12.4
13 motor sensory neuropathy type 1 aplasia cutis congenita 12.4
14 linear skin defects with multiple congenital anomalies 2 12.3
15 focal facial dermal dysplasia 1, brauer type 12.2
16 adams-oliver syndrome 1 12.1
17 oculoectodermal syndrome 11.9
18 adams-oliver syndrome 2 11.9
19 adams-oliver syndrome 5 11.9
20 corpus callosum, agenesis of 11.9
21 adrenal cortical carcinoma 11.8
22 adenoid cystic carcinoma 11.7
23 jones hersh yusk syndrome 11.7
24 didymosis aplasticosebacea 11.7
25 scalp-ear-nipple syndrome 11.6
26 adams-oliver syndrome 4 11.6
27 adams-oliver syndrome 6 11.6
28 agenesis of the corpus callosum with peripheral neuropathy 11.5
29 focal facial dermal dysplasia 3, setleis type 11.5
30 adams-oliver syndrome 3 11.5
31 focal facial dermal dysplasia 4 11.5
32 recessive dystrophic epidermolysis bullosa-generalized other 11.5
33 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 11.4
34 focal facial dermal dysplasia 2, brauer-setleis type 11.3
35 acalvaria 11.3
36 corpus callosum, agenesis of, with abnormal genitalia 11.3
37 aicardi syndrome 11.0
38 acetyl-coa carboxylase deficiency 11.0
39 vici syndrome 11.0
40 corpus callosum, partial agenesis of, x-linked 11.0
41 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 11.0
42 ceruminous adenocarcinoma 11.0
43 x-linked lissencephaly with abnormal genitalia 11.0
44 acinar cell carcinoma of pancreas 11.0
45 myocardial infarction 10.7
46 esterase c 10.7
47 rere-related disorders 10.6
48 atrial fibrillation 10.6
49 arteries, anomalies of 10.5
50 coronary artery anomaly 10.5

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



Diseases related to Aplasia Cutis Congenita

Symptoms & Phenotypes for Aplasia Cutis Congenita

Human phenotypes related to Aplasia Cutis Congenita:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 spinal dysraphism 33 hallmark (90%) HP:0010301
2 aplasia cutis congenita over the scalp vertex 33 hallmark (90%) HP:0004471
3 congenital localized absence of skin 33 hallmark (90%) HP:0007383
4 calvarial skull defect 33 hallmark (90%) HP:0001362
5 skin ulcer 33 frequent (33%) HP:0200042
6 facial palsy 33 occasional (7.5%) HP:0010628
7 prolonged bleeding time 33 occasional (7.5%) HP:0003010
8 abnormality of bone mineral density 33 occasional (7.5%) HP:0004348

MGI Mouse Phenotypes related to Aplasia Cutis Congenita:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.91 ACHE COL7A1 CYP26C1 ITGA6 ITGB4 NOTCH1
2 mortality/aging MP:0010768 9.85 ACHE BMS1 COL7A1 CYP26C1 DLL4 ITGA6
3 digestive/alimentary MP:0005381 9.8 COL7A1 ITGA6 ITGB4 NOTCH1 RBPJ TWIST2
4 hearing/vestibular/ear MP:0005377 9.65 ACHE ITGA6 ITGB4 NOTCH1 TWIST2
5 respiratory system MP:0005388 9.43 ACHE ITGA6 ITGB4 NOTCH1 RBPJ TWIST2
6 vision/eye MP:0005391 9.17 ACHE BMS1 DLL4 ITGA6 ITGB4 NOTCH1

Drugs & Therapeutics for Aplasia Cutis Congenita

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC) Recruiting NCT01630421

Search NIH Clinical Center for Aplasia Cutis Congenita

Genetic Tests for Aplasia Cutis Congenita

Genetic tests related to Aplasia Cutis Congenita:

# Genetic test Affiliating Genes
1 Aplasia Cutis Congenita 30 BMS1

Anatomical Context for Aplasia Cutis Congenita

MalaCards organs/tissues related to Aplasia Cutis Congenita:

42
Skin, Bone, Heart, Liver, Eye, Spinal Cord, Brain

Publications for Aplasia Cutis Congenita

Articles related to Aplasia Cutis Congenita:

(show top 50) (show all 345)
# Title Authors Year
1
A Case of Aplasia Cutis Congenita with Widespread Multifocal Skin Defects Without Extracutaneous Abnormalities. ( 30460367 )
2019
2
Type V aplasia cutis congenita with fetus papyraceus. ( 30963083 )
2019
3
Aplasia cutis congenita: a case report. ( 31023179 )
2019
4
Aplasia Cutis Congenita in a Newborn: A Rare Case. ( 30050274 )
2018
5
Aplasia Cutis Congenita: A Case Report. ( 30057534 )
2018
6
Pseudodidymosis: nevus psiloliparus with aplasia cutis congenita, an initial manifestation of Haberland syndrome. ( 30238439 )
2018
7
Aplasia Cutis Congenita with Ischemic Cortical Change and Normal Array Cytogenetic Analysis with a Fetus Papyraceus Twin. ( 30273087 )
2018
8
New features of aplasia cutis congenita type 5 - Skin atrophy associated with respiratory insufficiency and multiple intestinal atresia caused by the early death of twin fetus. ( 30316734 )
2018
9
Topical sucralfate cream treatment for aplasia cutis congenita with dystrophic epidermolysis bullosa: a case study. ( 30398936 )
2018
10
The Trichoscopic "Golf Club Set" Sign for Bullous Aplasia Cutis Congenita. ( 30410906 )
2018
11
Aplasia cutis congénita con defecto óseo subyacente: evolución favorable tras manejo conservador. ( 30677836 )
2018
12
A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita. ( 29048413 )
2018
13
Aplasia cutis congenita: Evaluation of signs suggesting extracutaneous involvement. ( 29178194 )
2018
14
Aplasia cutis congenita and 'vanishing twin' caused by iatrogenic fetal reduction. ( 29353258 )
2018
15
Erratum: Aplasia cutis congenita: Two case reports and discussion of the literature. ( 29493657 )
2018
16
Aplasia cutis congenita: A report. ( 29547189 )
2018
17
Integra®-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome. ( 29777447 )
2018
18
Aplasia cutis congenita and amniotic band syndrome: an uncommon association. ( 28143861 )
2017
19
Infant bald patch: ultrasonographic diagnosis of aplasia cutis congenita. ( 27768234 )
2017
20
Conservative Treatment of Large Aplasia Cutis Congenita of the Scalp With Bone Defect With Basic Fibroblast Growth Factor Application. ( 28045831 )
2017
21
Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway. ( 28110515 )
2017
22
Dermoscopic Findings of Scalp Aplasia Cutis Congenita. ( 28232928 )
2017
23
Aplasia cutis congenita with foetus papyraceus: Case report and review of the literature. ( 28319675 )
2017
24
Extreme aplasia cutis congenita involving the skull. ( 28477039 )
2017
25
APLASIA CUTIS CONGENITA TYPE I - A CASE SERIES. ( 28480840 )
2017
26
Aplasia cutis congenita type V: a case report and review of the literature. ( 28480995 )
2017
27
A Case of Membranous Aplasia Cutis Congenita and Dermoscopic Features. ( 28761263 )
2017
28
Case of linear bullous aplasia cutis congenita. ( 28836683 )
2017
29
Erosive pustular dermatosis of the scalp after aplasia cutis congenita in a 9-year-old patient: A 5-year follow-up. ( 28925015 )
2017
30
A Familial Case of Aplasia Cutis Congenita in Two Korean Siblings: A Review of Genetic Aspects. ( 28966538 )
2017
31
Clinical Application of Acellular Dermal Matrix in the Treatment of Aplasia Cutis Congenita on Scalp. ( 28968325 )
2017
32
A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome. ( 29033814 )
2017
33
Aplasia cutis congenita as a result of interstitial laser therapy for fetal reduction in monochorionic twins: Conservative approach and outcome. ( 29040903 )
2017
34
Aplasia cutis congenita: Two case reports and discussion of the literature. ( 29204308 )
2017
35
Trichoscopy of Focal Alopecia in Children - New Trichoscopic Findings: Hair Bulbs Arranged Radially along Hair-Bearing Margins in Aplasia Cutis Congenita. ( 27843914 )
2016
36
Our experience with a severe case of aplasia cutis congenita with a large skull defect. ( 26228315 )
2016
37
Outcomes of Tissue Expander Application for Scalp Reconstruction in Extensive Aplasia Cutis Congenita. ( 26537513 )
2016
38
Aplasia cutis congenita in a Blaschkoid distribution: a lesser known variant. ( 26755449 )
2016
39
Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn. ( 26864810 )
2016
40
Aplasia cutis congenita of the scalp with sagittal venous sinus exposure. ( 26933126 )
2016
41
Aplasia Cutis Congenita of the Scalp, Composite Type: The Criticality and Inseparability of Neurosurgical and Plastic Surgical Management. ( 26937970 )
2016
42
Incidental finding of cutaneous meningeal heterotopia in aplasia cutis congenita. ( 26968714 )
2016
43
Technique for Management of Aplasia Cutis Congenita of the Scalp With a Skin Allograft. ( 27171959 )
2016
44
A Novel Local Autologous Bone Graft Donor Site After Scalp Tissue Expansion in Aplasia Cutis Congenita. ( 27192637 )
2016
45
Aplasia Cutis Congenita Associated With Aplasia of the Superficial Temporal Artery. ( 27213745 )
2016
46
Bullous Kaposiform Hemangioendothelioma Masquerading as Aplasia Cutis Congenita. ( 27339319 )
2016
47
Aplasia Cutis Congenita of the Scalp with a Familial Pattern. ( 27429826 )
2016
48
Failed conservative management of a case of aplasia cutis congenita in a low-income country. ( 27525077 )
2016
49
Aplasia cutis congenita, group 5 without fetus papyraceus in two newborns. ( 27549868 )
2016
50
Familial aplasia cutis congenita associated with mega-cisterna magna. ( 27594612 )
2016

Variations for Aplasia Cutis Congenita

ClinVar genetic disease variations for Aplasia Cutis Congenita:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BMS1 NM_014753.4(BMS1): c.2789G> A (p.Arg930His) single nucleotide variant Pathogenic rs587777706 GRCh37 Chromosome 10, 43315975: 43315975
2 BMS1 NM_014753.4(BMS1): c.2789G> A (p.Arg930His) single nucleotide variant Pathogenic rs587777706 GRCh38 Chromosome 10, 42820527: 42820527
3 ADAR NM_001111.5(ADAR): c.841A> G (p.Ser281Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 154574277: 154574277
4 ADAR NM_001111.5(ADAR): c.841A> G (p.Ser281Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 154601801: 154601801

Expression for Aplasia Cutis Congenita

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

Pathways for Aplasia Cutis Congenita

Pathways related to Aplasia Cutis Congenita according to KEGG:

38
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008

GO Terms for Aplasia Cutis Congenita

Cellular components related to Aplasia Cutis Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 9.33 ACHE COL7A1 ITGA6
2 integrin complex GO:0008305 9.26 ITGA6 ITGB4
3 hemidesmosome GO:0030056 8.96 ITGA6 ITGB4
4 MAML1-RBP-Jkappa- ICN1 complex GO:0002193 8.62 NOTCH1 RBPJ

Biological processes related to Aplasia Cutis Congenita according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 Notch signaling pathway GO:0007219 9.77 DLL4 NOTCH1 RBPJ
2 blood vessel remodeling GO:0001974 9.63 DLL4 RBPJ
3 renal system development GO:0072001 9.62 ITGA6 ITGB4
4 aortic valve morphogenesis GO:0003180 9.62 DLL4 NOTCH1
5 negative regulation of ossification GO:0030279 9.61 NOTCH1 RBPJ
6 positive regulation of transcription of Notch receptor target GO:0007221 9.61 NOTCH1 RBPJ
7 positive regulation of Notch signaling pathway GO:0045747 9.61 DLL4 NOTCH1 RBPJ
8 inflammatory response to antigenic stimulus GO:0002437 9.59 NOTCH1 RBPJ
9 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.58 NOTCH1 RBPJ
10 hemidesmosome assembly GO:0031581 9.58 ITGA6 ITGB4
11 amelogenesis GO:0097186 9.57 ITGA6 ITGB4
12 cardiac left ventricle morphogenesis GO:0003214 9.56 NOTCH1 RBPJ
13 cardiac ventricle morphogenesis GO:0003208 9.55 DLL4 NOTCH1
14 dorsal aorta morphogenesis GO:0035912 9.54 DLL4 RBPJ
15 pericardium morphogenesis GO:0003344 9.52 DLL4 NOTCH1
16 cardiac atrium morphogenesis GO:0003209 9.51 DLL4 NOTCH1
17 nail development GO:0035878 9.49 ITGA6 ITGB4
18 interleukin-4 secretion GO:0072602 9.48 NOTCH1 RBPJ
19 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.46 NOTCH1 RBPJ
20 endocardium development GO:0003157 9.4 NOTCH1 RBPJ
21 auditory receptor cell fate commitment GO:0009912 9.37 NOTCH1 RBPJ
22 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.32 NOTCH1 RBPJ
23 blood vessel lumenization GO:0072554 9.26 DLL4 RBPJ
24 endocardium morphogenesis GO:0003160 9.16 NOTCH1 RBPJ
25 ventricular trabecula myocardium morphogenesis GO:0003222 9.13 DLL4 NOTCH1 RBPJ
26 Notch signaling involved in heart development GO:0061314 8.8 DLL4 NOTCH1 RBPJ

Molecular functions related to Aplasia Cutis Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 laminin binding GO:0043236 9.26 ACHE ITGA6
2 Notch binding GO:0005112 9.16 DLL4 NOTCH1
3 insulin-like growth factor I binding GO:0031994 8.96 ITGA6 ITGB4
4 neuregulin binding GO:0038132 8.62 ITGA6 ITGB4

Sources for Aplasia Cutis Congenita

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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