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 53 37 29 55 6 40 73
Scalp Defect Congenital 53 25
Congenital Defect of the Skull and Scalp 25
Congenital Defect of Skull and Scalp 53
Aplasia Cutis Congenita Nonsyndromic 53
Nonsyndromic Aplasia Cutis Congenita 25
Congenital Absence of Skin on Scalp 25
Congenital Ulcer of the Newborn 25
Acc 25

Classifications:



External Ids:

KEGG 37 H01896
UMLS 73 C0282160

Summaries for Aplasia Cutis Congenita

NIH Rare Diseases : 53 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 Development NOTCH1-mediated pathway for NF-KB activity modulation. Affiliated tissues include skin, bone and heart, and related phenotypes are calvarial skull defect and prolonged bleeding time

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 : 76 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

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

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 aplasia cutis congenita, nonsyndromic 34.9 BMS1 DLL4
2 epidermolysis bullosa junctionalis with pyloric atresia 32.7 ACHE ITGA6 ITGB4
3 focal facial dermal dysplasia 32.5 CYP26C1 TWIST2
4 adams-oliver syndrome 32.1 ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ
5 pyloric atresia 30.8 ITGA6 ITGB4
6 epidermolysis bullosa 30.0 COL7A1 ITGA6 ITGB4
7 oliver syndrome 29.5 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 12.2
13 motor sensory neuropathy type 1 aplasia cutis congenita 12.2
14 adams-oliver syndrome 1 12.1
15 focal facial dermal dysplasia 1, brauer type 12.0
16 linear skin defects with multiple congenital anomalies 2 11.9
17 corpus callosum, agenesis of 11.7
18 adrenocortical carcinoma, hereditary 11.6
19 jones hersh yusk syndrome 11.5
20 didymosis aplasticosebacea 11.5
21 oculoectodermal syndrome 11.4
22 scalp-ear-nipple syndrome 11.4
23 adams-oliver syndrome 2 11.4
24 adams-oliver syndrome 4 11.4
25 adams-oliver syndrome 5 11.4
26 adams-oliver syndrome 6 11.4
27 focal facial dermal dysplasia 3, setleis type 11.3
28 adams-oliver syndrome 3 11.3
29 focal facial dermal dysplasia 4 11.3
30 recessive dystrophic epidermolysis bullosa-generalized other 11.3
31 focal facial dermal dysplasia 2, brauer-setleis type 11.1
32 acalvaria 11.1
33 epidermolysis bullosa with pyloric atresia 10.4 ITGA6 ITGB4
34 alopecia 10.2
35 type i 10.2
36 barber-say syndrome 10.1 CYP26C1 TWIST2
37 tetralogy of fallot 10.1
38 corpus callosum, agenesis of, with abnormal genitalia 10.1
39 retinitis 10.1
40 aortic coarctation 10.1
41 cleft palate, isolated 9.9
42 nipples, supernumerary 9.9
43 oculocerebrocutaneous syndrome 9.9
44 tracheoesophageal fistula with or without esophageal atresia 9.9
45 cutis marmorata telangiectatica congenita 9.9
46 diastematomyelia 9.9
47 melanosis, neurocutaneous 9.9
48 polydactyly 9.9
49 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.9
50 basal cell carcinoma 1 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)
# 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:

46
# 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 ACHE ITGA6 ITGB4 NOTCH1 TWIST2
4 respiratory system MP:0005388 9.43 ACHE ITGA6 ITGB4 NOTCH1 RBPJ TWIST2
5 vision/eye MP:0005391 9.17 ITGA6 ITGB4 NOTCH1 TWIST2 ACHE BMS1

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 29 BMS1

Anatomical Context for Aplasia Cutis Congenita

MalaCards organs/tissues related to Aplasia Cutis Congenita:

41
Skin, Bone, Heart, Brain, Eye, Thyroid

Publications for Aplasia Cutis Congenita

Articles related to Aplasia Cutis Congenita:

(show top 50) (show all 320)
# Title Authors Year
1
Erratum: Aplasia cutis congenita: Two case reports and discussion of the literature. ( 29493657 )
2018
2
Integra<sup>Ar</sup>-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome. ( 29777447 )
2018
3
Aplasia cutis congenita: A report. ( 29547189 )
2018
4
Aplasia cutis congenita: Evaluation of signs suggesting extracutaneous involvement. ( 29178194 )
2018
5
A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita. ( 29048413 )
2018
6
Aplasia cutis congenita and 'vanishing twin' caused by iatrogenic fetal reduction. ( 29353258 )
2018
7
Aplasia cutis congenita with foetus papyraceus: Case report and review of the literature. ( 28319675 )
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
Aplasia cutis congenita and amniotic band syndrome: an uncommon association. ( 28143861 )
2017
11
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
12
Dermoscopic Findings of Scalp Aplasia Cutis Congenita. ( 28232928 )
2017
13
A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome. ( 29033814 )
2017
14
Aplasia cutis congenita: Two case reports and discussion of the literature. ( 29204308 )
2017
15
APLASIA CUTIS CONGENITA TYPE I - A CASE SERIES. ( 28480840 )
2017
16
Clinical Application of Acellular Dermal Matrix in the Treatment of Aplasia Cutis Congenita on Scalp. ( 28968325 )
2017
17
Extreme aplasia cutis congenita involving the skull. ( 28477039 )
2017
18
A Case of Membranous Aplasia Cutis Congenita and Dermoscopic Features. ( 28761263 )
2017
19
A Familial Case of Aplasia Cutis Congenita in Two Korean Siblings: A Review of Genetic Aspects. ( 28966538 )
2017
20
Aplasia cutis congenita as a result of interstitial laser therapy for fetal reduction in monochorionic twins: Conservative approach and outcome. ( 29040903 )
2017
21
Erosive pustular dermatosis of the scalp after aplasia cutis congenita in a 9-year-old patient: A 5-year follow-up. ( 28925015 )
2017
22
Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn. ( 26864810 )
2016
23
Familial aplasia cutis congenita associated with mega-cisterna magna. ( 27594612 )
2016
24
Aplasia cutis congenita of the scalp with sagittal venous sinus exposure. ( 26933126 )
2016
25
Infant bald patch: ultrasonographic diagnosis of aplasia cutis congenita. ( 27768234 )
2016
26
Treatment of multiple wounds of aplasia cutis congenita on the lower limb: a case report. ( 27974014 )
2016
27
Aplasia Cutis Congenita of the Scalp with a Familial Pattern: A Case Report. ( 27853695 )
2016
28
Aplasia cutis congenita in a Blaschkoid distribution: a lesser known variant. ( 26755449 )
2016
29
Starburst hair follicles: A dermoscopic clue for aplasia cutis congenita. ( 27646756 )
2016
30
Aplasia Cutis Congenita of the Scalp, Composite Type: The Criticality and Inseparability of Neurosurgical and Plastic Surgical Management. ( 26937970 )
2016
31
Trichoscopy of Focal Alopecia in Children - New Trichoscopic Findings: Hair Bulbs Arranged Radially along Hair-Bearing Margins in Aplasia Cutis Congenita. ( 27843914 )
2016
32
Aplasia Cutis Congenita of the Scalp with a Familial Pattern. ( 27429826 )
2016
33
Failed conservative management of a case of aplasia cutis congenita in a low-income country. ( 27525077 )
2016
34
Conservative Treatment of Large Aplasia Cutis Congenita of the Scalp With Bone Defect With Basic Fibroblast Growth Factor Application. ( 28045831 )
2016
35
Technique for Management of Aplasia Cutis Congenita of the Scalp With a Skin Allograft. ( 27171959 )
2016
36
A Novel Local Autologous Bone Graft Donor Site After Scalp Tissue Expansion in Aplasia Cutis Congenita. ( 27192637 )
2016
37
Aplasia cutis congenita, group 5 without fetus papyraceus in two newborns. ( 27549868 )
2016
38
Bullous Kaposiform Hemangioendothelioma Masquerading as Aplasia Cutis Congenita. ( 27339319 )
2016
39
Aplasia Cutis Congenita: Trichoscopy Findings. ( 28442877 )
2016
40
Aplasia Cutis Congenita Associated With Aplasia of the Superficial Temporal Artery. ( 27213745 )
2016
41
Aplasia cutis congenita of the scalp--what are the steps to be followed? Case report and review of the literature. ( 25672305 )
2015
42
Aplasia cutis congenita: report of 22 cases. ( 26016611 )
2015
43
Type VI Aplasia Cutis Congenita: Bart's Syndrome. ( 26609453 )
2015
44
Extensive Intracranial Arteriovenous Malformation in a Child with Aplasia Cutis Congenita. ( 25787706 )
2015
45
Aplasia cutis congenita: a conservative approach of a case with large, extensive skin, and underlying skull defect. ( 26509020 )
2015
46
Large defects in aplasia cutis congenita treated by large-sized thin split-thickness skin grafting: long-term follow-up of 18 patients. ( 26010404 )
2015
47
Extensive Aplasia Cutis Congenita with Associated Vanishing Twin Syndrome. ( 26319922 )
2015
48
Aplasia Cutis Congenita in a Newborn Child Associated with Two Fetus Papyraceous. ( 26724883 )
2015
49
Aplasia cutis congenita: A case report and literature review. ( 26640568 )
2015
50
Aplasia Cutis Congenita Associated with Fetus Papyraceus. ( 26212801 )
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
2 BMS1 NM_014753.3(BMS1): c.2789G> A (p.Arg930His) single nucleotide variant Pathogenic rs587777706 GRCh38 Chromosome 10, 42820527: 42820527

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:

37
# 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 27)
# 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 regulation of neurogenesis GO:0050767 9.63 DLL4 NOTCH1
4 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.62 DLL4 NOTCH1
5 renal system development GO:0072001 9.62 ITGA6 ITGB4
6 negative regulation of ossification GO:0030279 9.61 NOTCH1 RBPJ
7 positive regulation of transcription of Notch receptor target GO:0007221 9.61 NOTCH1 RBPJ
8 positive regulation of Notch signaling pathway GO:0045747 9.61 DLL4 NOTCH1 RBPJ
9 inflammatory response to antigenic stimulus GO:0002437 9.59 NOTCH1 RBPJ
10 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.58 NOTCH1 RBPJ
11 hemidesmosome assembly GO:0031581 9.58 ITGA6 ITGB4
12 cardiac left ventricle morphogenesis GO:0003214 9.57 NOTCH1 RBPJ
13 cardiac ventricle morphogenesis GO:0003208 9.56 DLL4 NOTCH1
14 amelogenesis GO:0097186 9.55 ITGA6 ITGB4
15 pericardium morphogenesis GO:0003344 9.54 DLL4 NOTCH1
16 dorsal aorta morphogenesis GO:0035912 9.52 DLL4 RBPJ
17 cardiac atrium morphogenesis GO:0003209 9.51 DLL4 NOTCH1
18 nail development GO:0035878 9.49 ITGA6 ITGB4
19 interleukin-4 secretion GO:0072602 9.48 NOTCH1 RBPJ
20 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.46 NOTCH1 RBPJ
21 endocardium development GO:0003157 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:

# 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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