MCID: APL006
MIFTS: 50

Aplasia Cutis Congenita

Categories: Rare diseases, Skin diseases, Genetic diseases

Aliases & Classifications for Aplasia Cutis Congenita

MalaCards integrated aliases for Aplasia Cutis Congenita:

Name: Aplasia Cutis Congenita 49 36 28 51 69
Scalp Defect Congenital 49 24
Congenital Defect of the Skull and Scalp 24
Congenital Defect of Skull and Scalp 49
Aplasia Cutis Congenita Nonsyndromic 49
Nonsyndromic Aplasia Cutis Congenita 24
Congenital Absence of Skin on Scalp 24
Congenital Ulcer of the Newborn 24
Acc 24

Classifications:



External Ids:

KEGG 36 H01896
UMLS 69 C0282160

Summaries for Aplasia Cutis Congenita

NIH Rare Diseases : 49 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.  Last updated: 9/17/2016

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, and has symptoms including calvarial skull defect, prolonged bleeding time and abnormality of bone mineral density. 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 Development NOTCH1-mediated pathway for NF-KB activity modulation. Affiliated tissues include skin, bone and heart, and related phenotypes are craniofacial and digestive/alimentary

Genetics Home Reference : 24 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.

Related Diseases for Aplasia Cutis Congenita

Diseases in the Aplasia Cutis Congenita family:

Aplasia Cutis Congenita, Nonsyndromic Aplasia Cutis Congenita Dominant
Aplasia Cutis Congenita Recessive

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

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 aplasia cutis congenita, nonsyndromic 34.6 BMS1 DLL4
2 epidermolysis bullosa junctionalis with pyloric atresia 32.7 ACHE ITGA6 ITGB4
3 adams-oliver syndrome 32.5 ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ
4 focal facial dermal dysplasia 32.4 CYP26C1 TWIST2
5 pyloric atresia 30.6 ITGA6 ITGB4
6 epidermolysis bullosa 30.1 COL7A1 ITGA6 ITGB4
7 oliver syndrome 29.9 ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ
8 aplasia cutis congenita with intestinal lymphangiectasia 12.6
9 aplasia cutis congenita of limbs recessive 12.6
10 aplasia cutis congenita, high myopia, and cone-rod dysfunction 12.3
11 aplasia cutis congenita of limbs, autosomal recessive 12.2
12 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita 12.1
13 aplasia cutis congenita dominant 12.1
14 aplasia cutis congenita recessive 12.1
15 motor sensory neuropathy type 1 aplasia cutis congenita 12.1
16 adams-oliver syndrome 1 12.1
17 focal facial dermal dysplasia 1, brauer type 12.0
18 linear skin defects with multiple congenital anomalies 2 11.9
19 corpus callosum, agenesis of 11.7
20 adrenocortical carcinoma, hereditary 11.6
21 jones hersh yusk syndrome 11.5
22 didymosis aplasticosebacea 11.5
23 oculoectodermal syndrome 11.4
24 scalp-ear-nipple syndrome 11.4
25 adams-oliver syndrome 2 11.4
26 adams-oliver syndrome 4 11.4
27 adams-oliver syndrome 5 11.4
28 adams-oliver syndrome 6 11.4
29 focal facial dermal dysplasia 3, setleis type 11.3
30 adams-oliver syndrome 3 11.3
31 focal facial dermal dysplasia 4 11.3
32 focal facial dermal dysplasia 2, brauer-setleis type 11.2
33 acalvaria 11.2
34 alpha-fetoprotein deficiency 10.2
35 alopecia 10.2
36 epidermolysis bullosa with pyloric atresia 10.2 ITGA6 ITGB4
37 heart disease 10.2
38 chromosome 2q35 duplication syndrome 10.1
39 tetralogy of fallot 10.1
40 corpus callosum, agenesis of, with abnormal genitalia 10.1
41 retinitis 10.1
42 barber-say syndrome 10.0 CYP26C1 TWIST2
43 arteriovenous malformations of the brain 9.9
44 cleft palate, isolated 9.9
45 lipomatosis, multiple 9.9
46 nipples, supernumerary 9.9
47 oculocerebrocutaneous syndrome 9.9
48 tracheoesophageal fistula with or without esophageal atresia 9.9
49 cutis marmorata telangiectatica congenita 9.9
50 diastematomyelia 9.9

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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 calvarial skull defect 31 hallmark (90%) HP:0001362
2 prolonged bleeding time 31 occasional (7.5%) HP:0003010
3 abnormality of bone mineral density 31 occasional (7.5%) HP:0004348
4 aplasia cutis congenita over the scalp vertex 31 hallmark (90%) HP:0004471
5 congenital localized absence of skin 31 hallmark (90%) HP:0007383
6 spinal dysraphism 31 hallmark (90%) HP:0010301
7 facial palsy 31 occasional (7.5%) HP:0010628
8 skin ulcer 31 frequent (33%) HP:0200042

MGI Mouse Phenotypes related to Aplasia Cutis Congenita:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.87 ACHE COL7A1 CYP26C1 ITGA6 ITGB4 NOTCH1
2 digestive/alimentary MP:0005381 9.73 COL7A1 ITGA6 ITGB4 NOTCH1 RBPJ TWIST2
3 hearing/vestibular/ear MP:0005377 9.55 ITGA6 ITGB4 NOTCH1 TWIST2 ACHE
4 respiratory system MP:0005388 9.43 ACHE ITGA6 ITGB4 NOTCH1 RBPJ TWIST2
5 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 28 BMS1

Anatomical Context for Aplasia Cutis Congenita

MalaCards organs/tissues related to Aplasia Cutis Congenita:

38
Skin, Bone, Heart, Brain, Eye, Thyroid

Publications for Aplasia Cutis Congenita

Articles related to Aplasia Cutis Congenita:

(show top 50) (show all 315)
# Title Authors Year
1
A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita. ( 29048413 )
2018
2
Aplasia cutis congenita and 'vanishing twin' caused by iatrogenic fetal reduction. ( 29353258 )
2018
3
Aplasia cutis congenita: Evaluation of signs suggesting extracutaneous involvement. ( 29178194 )
2018
4
Extreme aplasia cutis congenita involving the skull. ( 28477039 )
2017
5
A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome. ( 29033814 )
2017
6
Aplasia cutis congenita: Two case reports and discussion of the literature. ( 29204308 )
2017
7
Clinical Application of Acellular Dermal Matrix in the Treatment of Aplasia Cutis Congenita on Scalp. ( 28968325 )
2017
8
Case of linear bullous aplasia cutis congenita. ( 28836683 )
2017
9
Aplasia cutis congenita type V: a case report and review of the literature. ( 28480995 )
2017
10
A Familial Case of Aplasia Cutis Congenita in Two Korean Siblings: A Review of Genetic Aspects. ( 28966538 )
2017
11
Aplasia cutis congenita with foetus papyraceus: Case report and review of the literature. ( 28319675 )
2017
12
Aplasia cutis congenita and amniotic band syndrome: an uncommon association. ( 28143861 )
2017
13
Aplasia cutis congenita as a result of interstitial laser therapy for fetal reduction in monochorionic twins: Conservative approach and outcome. ( 29040903 )
2017
14
APLASIA CUTIS CONGENITA TYPE I - A CASE SERIES. ( 28480840 )
2017
15
Erosive pustular dermatosis of the scalp after aplasia cutis congenita in a 9-year-old patient: A 5-year follow-up. ( 28925015 )
2017
16
Dermoscopic Findings of Scalp Aplasia Cutis Congenita. ( 28232928 )
2017
17
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
18
A Case of Membranous Aplasia Cutis Congenita and Dermoscopic Features. ( 28761263 )
2017
19
A Novel Local Autologous Bone Graft Donor Site After Scalp Tissue Expansion in Aplasia Cutis Congenita. ( 27192637 )
2016
20
Conservative Treatment of Large Aplasia Cutis Congenita of the Scalp With Bone Defect With Basic Fibroblast Growth Factor Application. ( 28045831 )
2016
21
Treatment of multiple wounds of aplasia cutis congenita on the lower limb: a case report. ( 27974014 )
2016
22
Bullous Kaposiform Hemangioendothelioma Masquerading as Aplasia Cutis Congenita. ( 27339319 )
2016
23
Aplasia Cutis Congenita of the Scalp with a Familial Pattern: A Case Report. ( 27853695 )
2016
24
Aplasia Cutis Congenita of the Scalp, Composite Type: The Criticality and Inseparability of Neurosurgical and Plastic Surgical Management. ( 26937970 )
2016
25
Trichoscopy of Focal Alopecia in Children - New Trichoscopic Findings: Hair Bulbs Arranged Radially along Hair-Bearing Margins in Aplasia Cutis Congenita. ( 27843914 )
2016
26
Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn. ( 26864810 )
2016
27
Aplasia Cutis Congenita Associated With Aplasia of the Superficial Temporal Artery. ( 27213745 )
2016
28
Technique for Management of Aplasia Cutis Congenita of the Scalp With a Skin Allograft. ( 27171959 )
2016
29
Aplasia cutis congenita in a Blaschkoid distribution: a lesser known variant. ( 26755449 )
2016
30
Starburst hair follicles: A dermoscopic clue for aplasia cutis congenita. ( 27646756 )
2016
31
Aplasia cutis congenita of the scalp with sagittal venous sinus exposure. ( 26933126 )
2016
32
Aplasia Cutis Congenita of the Scalp with a Familial Pattern. ( 27429826 )
2016
33
Familial aplasia cutis congenita associated with mega-cisterna magna. ( 27594612 )
2016
34
Aplasia cutis congenita, group 5 without fetus papyraceus in two newborns. ( 27549868 )
2016
35
Aplasia Cutis Congenita: Trichoscopy Findings. ( 28442877 )
2016
36
Failed conservative management of a case of aplasia cutis congenita in a low-income country. ( 27525077 )
2016
37
Infant bald patch: ultrasonographic diagnosis of aplasia cutis congenita. ( 27768234 )
2016
38
Calvarial Regeneration With Use of Acellular Dermal Matrix in Aplasia Cutis Congenita. ( 26267580 )
2015
39
Aplasia cutis congenita: report of 22 cases. ( 26016611 )
2015
40
Aplasia cutis congenita presenting as vacuum-extractor-related trauma. ( 25754144 )
2015
41
Type VI Aplasia Cutis Congenita: Bart's Syndrome. ( 26609453 )
2015
42
Aplasia cutis congenita with "vanishing twin". ( 25919737 )
2015
43
Nonsyndromic aplasia cutis congenita: a case report. ( 26016981 )
2015
44
An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: A previously undescribed syndrome? ( 25708102 )
2015
45
Fatal superior sagittal sinus hemorrhage as a complication of aplasia cutis congenita: a case report and literature review. ( 25614301 )
2015
46
Aplasia Cutis Congenita in a Newborn Child Associated with Two Fetus Papyraceous. ( 26724883 )
2015
47
Aplasia cutis congenita: a conservative approach of a case with large, extensive skin, and underlying skull defect. ( 26509020 )
2015
48
Aplasia cutis congenita of the scalp--what are the steps to be followed? Case report and review of the literature. ( 25672305 )
2015
49
Extensive Aplasia Cutis Congenita with Associated Vanishing Twin Syndrome. ( 26319922 )
2015
50
Our experience with a severe case of aplasia cutis congenita with a large skull defect. ( 26228315 )
2015

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_014753.3(BMS1): c.2789G> A (p.Arg930His) single nucleotide variant Pathogenic rs587777706 GRCh37 Chromosome 10, 43315975: 43315975

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:

36
# 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 integrin complex GO:0008305 9.16 ITGA6 ITGB4
2 hemidesmosome GO:0030056 8.96 ITGA6 ITGB4
3 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 regulation of neurogenesis GO:0050767 9.63 DLL4 NOTCH1
3 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.62 DLL4 NOTCH1
4 renal system development GO:0072001 9.62 ITGA6 ITGB4
5 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.61 DLL4 NOTCH1
6 negative regulation of ossification GO:0030279 9.61 NOTCH1 RBPJ
7 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.59 NOTCH1 RBPJ
8 inflammatory response to antigenic stimulus GO:0002437 9.58 NOTCH1 RBPJ
9 hemidesmosome assembly GO:0031581 9.58 ITGA6 ITGB4
10 cardiac ventricle morphogenesis GO:0003208 9.57 DLL4 NOTCH1
11 cardiac left ventricle morphogenesis GO:0003214 9.56 NOTCH1 RBPJ
12 amelogenesis GO:0097186 9.55 ITGA6 ITGB4
13 dorsal aorta morphogenesis GO:0035912 9.54 DLL4 RBPJ
14 pericardium morphogenesis GO:0003344 9.52 DLL4 NOTCH1
15 cardiac atrium morphogenesis GO:0003209 9.51 DLL4 NOTCH1
16 positive regulation of transcription of Notch receptor target GO:0007221 9.49 NOTCH1 RBPJ
17 nail development GO:0035878 9.48 ITGA6 ITGB4
18 interleukin-4 secretion GO:0072602 9.46 NOTCH1 RBPJ
19 endocardium development GO:0003157 9.43 NOTCH1 RBPJ
20 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.4 NOTCH1 RBPJ
21 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.37 NOTCH1 RBPJ
22 auditory receptor cell fate commitment GO:0009912 9.32 NOTCH1 RBPJ
23 endocardium morphogenesis GO:0003160 9.26 NOTCH1 RBPJ
24 blood vessel lumenization GO:0072554 9.16 DLL4 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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