MCID: APL006
MIFTS: 48

Aplasia Cutis Congenita

Categories: Rare diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Aplasia Cutis Congenita

MalaCards integrated aliases for Aplasia Cutis Congenita:

Name: Aplasia Cutis Congenita 50 24 29 52 69
Scalp Defect Congenital 50 25
Congenital Defect of the Skull and Scalp 25
Aplasia Cutis Congenita Nonsyndromic 50
Congenital Defect of Skull and Scalp 50
Nonsyndromic Aplasia Cutis Congenita 25
Congenital Absence of Skin on Scalp 25
Congenital Ulcer of the Newborn 25
Acc 25

Classifications:



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Summaries for Aplasia Cutis Congenita

NIH Rare Diseases : 50 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 recessive and aplasia cutis congenita, nonsyndromic, 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 Wnt / Hedgehog / Notch and Development NOTCH1-mediated pathway for NF-KB activity modulation. Affiliated tissues include skin, bone and heart, and related phenotypes are craniofacial and mortality/aging

Genetics Home Reference : 25 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 : 72 Aplasia cutis congenita (ACC) 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 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 81)
id Related Disease Score Top Affiliating Genes
1 aplasia cutis congenita recessive 25.7 ACHE ARHGAP31 BMS1 COL7A1 COX7B CYP26C1
2 aplasia cutis congenita, nonsyndromic 12.4
3 aplasia cutis congenita of limbs recessive 12.3
4 aplasia cutis congenita with intestinal lymphangiectasia 12.3
5 aplasia cutis congenita, high myopia, and cone-rod dysfunction 12.2
6 aplasia cutis congenita of limbs, autosomal recessive 12.1
7 adams-oliver syndrome 12.0
8 aplasia cutis congenita dominant 12.0
9 motor sensory neuropathy type 1 aplasia cutis congenita 12.0
10 adams-oliver syndrome 1 11.8
11 epidermolysis bullosa, junctional, with pyloric stenosis 11.7
12 linear skin defects with multiple congenital anomalies 2 11.6
13 focal facial dermal dysplasia 1, brauer type 11.6
14 focal facial dermal dysplasia 11.4
15 didymosis aplasticosebacea 11.3
16 adams-oliver syndrome 4 11.3
17 adams-oliver syndrome 5 11.3
18 adams-oliver syndrome 6 11.3
19 scalp-ear-nipple syndrome 11.3
20 adams-oliver syndrome 2 11.3
21 focal facial dermal dysplasia 3, setleis type 11.2
22 adams-oliver syndrome 3 11.2
23 focal facial dermal dysplasia 4 11.2
24 oculoectodermal syndrome 11.2
25 focal facial dermal dysplasia 2, brauer-setleis type 11.0
26 acalvaria 11.0
27 jones hersh yusk syndrome 11.0
28 telangiectasia, hereditary hemorrhagic, type 5 10.6 BMS1 DLL4
29 pontocerebellar hypoplasia type 2d 10.4 EOGT RBPJ
30 mental retardation with language impairment and with or without autistic features 10.4 EOGT RBPJ
31 fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome 10.4 ITGA6 ITGB4
32 oliver syndrome 10.3
33 epidermolysis bullosa 10.3
34 angelucci's syndrome 10.2 ARHGAP31 EOGT
35 alopecia 10.2
36 tetralogy of fallot 10.0
37 retinitis 10.0
38 nemaline myopathy 9 10.0 ACHE ITGA6 ITGB4
39 follicular lymphoreticuloma 9.9 CYP26C1 TWIST2
40 cutis marmorata telangiectatica congenita 9.9
41 oculocerebrocutaneous syndrome 9.9
42 diastematomyelia 9.9
43 arteriovenous fistula 9.9
44 autosomal recessive disease 9.9
45 parietal foramina 9.9
46 thrombosis 9.9
47 esophageal atresia 9.9
48 microphthalmia 9.9
49 microcephaly 9.9
50 arteriovenous malformation 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:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 calvarial skull defect 32 hallmark (90%) HP:0001362
2 prolonged bleeding time 32 occasional (7.5%) HP:0003010
3 abnormality of bone mineral density 32 occasional (7.5%) HP:0004348
4 aplasia cutis congenita over the scalp vertex 32 hallmark (90%) HP:0004471
5 congenital localized absence of skin 32 hallmark (90%) HP:0007383
6 spinal dysraphism 32 hallmark (90%) HP:0010301
7 facial palsy 32 occasional (7.5%) HP:0010628
8 skin ulcer 32 frequent (33%) HP:0200042

MGI Mouse Phenotypes related to Aplasia Cutis Congenita:

44
id 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 ITGA6 ITGB4 NOTCH1 TWIST2 ACHE
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:


id 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:

id Genetic test Affiliating Genes
1 Aplasia Cutis Congenita 29 24

Anatomical Context for Aplasia Cutis Congenita

MalaCards organs/tissues related to Aplasia Cutis Congenita:

39
Skin, Bone, Heart, Brain, Eye, Thyroid

Publications for Aplasia Cutis Congenita

Articles related to Aplasia Cutis Congenita:

(show top 50) (show all 307)
id Title Authors Year
1
Aplasia cutis congenita type V: a case report and review of the literature. ( 28480995 )
2017
2
Aplasia cutis congenita and amniotic band syndrome: an uncommon association. ( 28143861 )
2017
3
Aplasia cutis congenita with foetus papyraceus: Case report and review of the literature. ( 28319675 )
2017
4
Erosive pustular dermatosis of the scalp after aplasia cutis congenita in a 9-year-old patient: A 5-year follow-up. ( 28925015 )
2017
5
A Case of Membranous Aplasia Cutis Congenita and Dermoscopic Features. ( 28761263 )
2017
6
Dermoscopic Findings of Scalp Aplasia Cutis Congenita. ( 28232928 )
2017
7
APLASIA CUTIS CONGENITA TYPE I - A CASE SERIES. ( 28480840 )
2017
8
Extreme aplasia cutis congenita involving the skull. ( 28477039 )
2017
9
Case of linear bullous aplasia cutis congenita. ( 28836683 )
2017
10
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
11
Starburst hair follicles: A dermoscopic clue for aplasia cutis congenita. ( 27646756 )
2016
12
Conservative Treatment of Large Aplasia Cutis Congenita of the Scalp With Bone Defect With Basic Fibroblast Growth Factor Application. ( 28045831 )
2016
13
Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn. ( 26864810 )
2016
14
Aplasia Cutis Congenita of the Scalp with a Familial Pattern. ( 27429826 )
2016
15
Trichoscopy of Focal Alopecia in Children - New Trichoscopic Findings: Hair Bulbs Arranged Radially along Hair-Bearing Margins in Aplasia Cutis Congenita. ( 27843914 )
2016
16
Aplasia Cutis Congenita of the Scalp, Composite Type: The Criticality and Inseparability of Neurosurgical and Plastic Surgical Management. ( 26937970 )
2016
17
Familial aplasia cutis congenita associated with mega-cisterna magna. ( 27594612 )
2016
18
Aplasia cutis congenita in a Blaschkoid distribution: a lesser known variant. ( 26755449 )
2016
19
Bullous Kaposiform Hemangioendothelioma Masquerading as Aplasia Cutis Congenita. ( 27339319 )
2016
20
Aplasia cutis congenita, group 5 without fetus papyraceus in two newborns. ( 27549868 )
2016
21
Treatment of multiple wounds of aplasia cutis congenita on the lower limb: a case report. ( 27974014 )
2016
22
Technique for Management of Aplasia Cutis Congenita of the Scalp With a Skin Allograft. ( 27171959 )
2016
23
A Novel Local Autologous Bone Graft Donor Site After Scalp Tissue Expansion in Aplasia Cutis Congenita. ( 27192637 )
2016
24
Infant bald patch: ultrasonographic diagnosis of aplasia cutis congenita. ( 27768234 )
2016
25
Aplasia cutis congenita of the scalp with sagittal venous sinus exposure. ( 26933126 )
2016
26
Aplasia Cutis Congenita: Trichoscopy Findings. ( 28442877 )
2016
27
Aplasia Cutis Congenita Associated With Aplasia of the Superficial Temporal Artery. ( 27213745 )
2016
28
Failed conservative management of a case of aplasia cutis congenita in a low-income country. ( 27525077 )
2016
29
Aplasia Cutis Congenita of the Scalp with a Familial Pattern: A Case Report. ( 27853695 )
2016
30
Nonsyndromic aplasia cutis congenita: a case report. ( 26016981 )
2015
31
Calvarial Regeneration With Use of Acellular Dermal Matrix in Aplasia Cutis Congenita. ( 26267580 )
2015
32
Our experience with a severe case of aplasia cutis congenita with a large skull defect. ( 26228315 )
2015
33
Outcomes of Tissue Expander Application for Scalp Reconstruction in Extensive Aplasia Cutis Congenita. ( 26537513 )
2015
34
Aplasia cutis congenita: A case report and literature review. ( 26640568 )
2015
35
Type VI Aplasia Cutis Congenita: Bart's Syndrome. ( 26609453 )
2015
36
Extensive Intracranial Arteriovenous Malformation in a Child with Aplasia Cutis Congenita. ( 25787706 )
2015
37
Aplasia cutis congenita presenting as vacuum-extractor-related trauma. ( 25754144 )
2015
38
Aplasia cutis congenita with "vanishing twin". ( 25919737 )
2015
39
Aplasia cutis congenita: a conservative approach of a case with large, extensive skin, and underlying skull defect. ( 26509020 )
2015
40
Large defects in aplasia cutis congenita treated by large-sized thin split-thickness skin grafting: long-term follow-up of 18 patients. ( 26010404 )
2015
41
An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: A previously undescribed syndrome? ( 25708102 )
2015
42
Fatal superior sagittal sinus hemorrhage as a complication of aplasia cutis congenita: a case report and literature review. ( 25614301 )
2015
43
Aplasia cutis congenita of the scalp--what are the steps to be followed? Case report and review of the literature. ( 25672305 )
2015
44
Extensive Aplasia Cutis Congenita with Associated Vanishing Twin Syndrome. ( 26319922 )
2015
45
Aplasia Cutis Congenita Associated with Fetus Papyraceus. ( 26212801 )
2015
46
Aplasia cutis congenita: report of 22 cases. ( 26016611 )
2015
47
Aplasia Cutis Congenita in a Newborn Child Associated with Two Fetus Papyraceous. ( 26724883 )
2015
48
Aplasia cutis congenita: a rare case with extensive symmetrically distributed lesions. ( 25327077 )
2014
49
Combined conservative and surgical management for aplasia cutis congenita: a case report and review of the literature. ( 25860783 )
2014
50
Aplasia cutis congenita on lumbosacral area. ( 24616877 )
2014

Variations for Aplasia Cutis Congenita

ClinVar genetic disease variations for Aplasia Cutis Congenita:

6
id 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

GO Terms for Aplasia Cutis Congenita

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

id 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 27)
id Name GO ID Score Top Affiliating Genes
1 Notch signaling pathway GO:0007219 9.78 DLL4 NOTCH1 RBPJ
2 blood vessel remodeling GO:0001974 9.63 DLL4 RBPJ
3 regulation of neurogenesis GO:0050767 9.63 DLL4 NOTCH1
4 renal system development GO:0072001 9.62 ITGA6 ITGB4
5 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.62 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 9.6 NOTCH1 RBPJ
8 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.59 DLL4 NOTCH1
9 inflammatory response to antigenic stimulus GO:0002437 9.58 NOTCH1 RBPJ
10 hemidesmosome assembly GO:0031581 9.58 ITGA6 ITGB4
11 cardiac ventricle morphogenesis GO:0003208 9.57 DLL4 NOTCH1
12 cardiac left ventricle morphogenesis GO:0003214 9.56 NOTCH1 RBPJ
13 amelogenesis GO:0097186 9.55 ITGA6 ITGB4
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 positive regulation of transcription of Notch receptor target GO:0007221 9.48 NOTCH1 RBPJ
19 interleukin-4 secretion GO:0072602 9.46 NOTCH1 RBPJ
20 endocardium development GO:0003157 9.43 NOTCH1 RBPJ
21 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.4 NOTCH1 RBPJ
22 auditory receptor cell fate commitment GO:0009912 9.37 NOTCH1 RBPJ
23 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.32 NOTCH1 RBPJ
24 endocardium morphogenesis GO:0003160 9.26 NOTCH1 RBPJ
25 blood vessel lumenization GO:0072554 9.16 DLL4 RBPJ
26 ventricular trabecula myocardium morphogenesis GO:0003222 9.13 DLL4 NOTCH1 RBPJ
27 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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