ACC
MCID: APL023
MIFTS: 40

Aplasia Cutis Congenita, Nonsyndromic (ACC)

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

Aliases & Classifications for Aplasia Cutis Congenita, Nonsyndromic

MalaCards integrated aliases for Aplasia Cutis Congenita, Nonsyndromic:

Name: Aplasia Cutis Congenita, Nonsyndromic 58
Congenital Defect of Skull and Scalp 58 76
Aplasia Cutis Congenita 60 74
Acc 58 76
Aplasia Cutis Congenita, Non-Syndromic 76
Scalp Defect, Congenital 58
Congenital Scalp Defect 76

Characteristics:

Orphanet epidemiological data:

60
aplasia cutis congenita
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
one 5-generation acc family with mutation in bms1 has been described (last curated august 2014)


HPO:

33
aplasia cutis congenita, nonsyndromic:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 107600
MeSH 45 D004476
ICD10 via Orphanet 35 Q84.8
UMLS via Orphanet 75 C0282160
Orphanet 60 ORPHA1114
SNOMED-CT via HPO 70 258211005 263681008
UMLS 74 C0282160

Summaries for Aplasia Cutis Congenita, Nonsyndromic

OMIM : 58 Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin, transparent membrane through which the underlying structures are visible. The location is usually on the scalp (Evers et al., 1995). Approximately 20 to 30% of cases have underlying osseous involvement (Elliott and Teebi, 1997). Autosomal dominant inheritance is most common, but recessive inheritance has also been reported. Cutaneous aplasia of the scalp vertex also occurs in Johanson-Blizzard syndrome (243800) and Adams-Oliver syndrome (AOS; 100300). A defect in the scalp is sometimes found in cases of trisomy 13 and in about 15% of cases of deletion of the short arm of chromosome 4, the Wolf-Hirschhorn syndrome (WHS; 194190) (Hirschhorn et al., 1965; Fryns et al., 1973). Evers et al. (1995) provided a list of disorders associated with aplasia cutis congenita, classified according to etiology. They also tabulated points of particular significance in history taking and examination of patients with ACC. (107600)

MalaCards based summary : Aplasia Cutis Congenita, Nonsyndromic, also known as congenital defect of skull and scalp, is related to aplasia cutis congenita and aplasia cutis congenita, high myopia, and cone-rod dysfunction. An important gene associated with Aplasia Cutis Congenita, Nonsyndromic is BMS1 (BMS1 Ribosome Biogenesis Factor). Affiliated tissues include heart, skin and liver, and related phenotypes are aplasia cutis congenita over the scalp vertex and facial palsy

UniProtKB/Swiss-Prot : 76 Aplasia cutis congenita, non-syndromic: A disorder characterized by congenital absence of a portion of skin in a localized or widespread area of the body. The lesions are most commonly localized on the scalp, however aplasia cutis congenita can affect any part of the body.

Related Diseases for Aplasia Cutis Congenita, Nonsyndromic

Diseases in the Aplasia Cutis Congenita family:

Aplasia Cutis Congenita, Nonsyndromic

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

(show top 50) (show all 206)
# Related Disease Score Top Affiliating Genes
1 aplasia cutis congenita 31.4 BMS1 DLL4
2 aplasia cutis congenita, high myopia, and cone-rod dysfunction 12.5
3 aplasia cutis congenita of limbs, autosomal recessive 12.4
4 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita 12.4
5 motor sensory neuropathy type 1 aplasia cutis congenita 12.4
6 adams-oliver syndrome 12.3
7 linear skin defects with multiple congenital anomalies 2 12.3
8 focal facial dermal dysplasia 1, brauer type 12.2
9 adams-oliver syndrome 1 12.1
10 oculoectodermal syndrome 11.9
11 scalp defects and postaxial polydactyly 11.9
12 adams-oliver syndrome 5 11.9
13 corpus callosum, agenesis of 11.9
14 adrenal cortical carcinoma 11.8
15 adenoid cystic carcinoma 11.7
16 focal facial dermal dysplasia 11.7
17 jones hersh yusk syndrome 11.7
18 didymosis aplasticosebacea 11.7
19 scalp-ear-nipple syndrome 11.6
20 adams-oliver syndrome 4 11.6
21 adams-oliver syndrome 6 11.6
22 agenesis of the corpus callosum with peripheral neuropathy 11.5
23 focal facial dermal dysplasia 3, setleis type 11.5
24 adams-oliver syndrome 3 11.5
25 focal facial dermal dysplasia 4 11.5
26 recessive dystrophic epidermolysis bullosa-generalized other 11.5
27 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 11.4
28 focal facial dermal dysplasia 2, brauer-setleis type 11.3
29 acalvaria 11.3
30 corpus callosum, agenesis of, with abnormal genitalia 11.3
31 aplasia cutis congenita with intestinal lymphangiectasia 11.2
32 aplasia cutis congenita of limbs recessive 11.2
33 epidermolysis bullosa junctionalis with pyloric atresia 11.0
34 aicardi syndrome 11.0
35 acetyl-coa carboxylase deficiency 11.0
36 vici syndrome 11.0
37 corpus callosum, partial agenesis of, x-linked 11.0
38 adams-oliver syndrome 2 11.0
39 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 11.0
40 ceruminous adenocarcinoma 11.0
41 x-linked lissencephaly with abnormal genitalia 11.0
42 acinar cell carcinoma of pancreas 11.0
43 myocardial infarction 10.7
44 heart disease 10.7
45 esterase c 10.7
46 epidermolysis bullosa 10.6
47 rere-related disorders 10.6
48 atrial fibrillation 10.6
49 oliver syndrome 10.5
50 arteries, anomalies of 10.5

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



Diseases related to Aplasia Cutis Congenita, Nonsyndromic

Symptoms & Phenotypes for Aplasia Cutis Congenita, Nonsyndromic

Human phenotypes related to Aplasia Cutis Congenita, Nonsyndromic:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia cutis congenita over the scalp vertex 60 33 Very frequent (99-80%) HP:0004471
2 facial palsy 60 Occasional (29-5%)
3 skin ulcer 60 Frequent (79-30%)
4 prolonged bleeding time 60 Occasional (29-5%)
5 abnormality of bone mineral density 60 Occasional (29-5%)
6 spinal dysraphism 60 Very frequent (99-80%)
7 skull defect 60 Very frequent (99-80%)
8 congenital localized absence of skin 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
aplasia cutis congenita over the scalp vertex

Skin Nails Hair Skin:
circumscribed transparent membrane on the scalp vertex may be ulcerated (other areas of the body are rarely involved)

Skeletal Skull:
decreased ossification underlying the skin defect (in 20 to 30% of patients)

Clinical features from OMIM:

107600

MGI Mouse Phenotypes related to Aplasia Cutis Congenita, Nonsyndromic:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.62 BMS1 DLL4

Drugs & Therapeutics for Aplasia Cutis Congenita, Nonsyndromic

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, Nonsyndromic

Genetic Tests for Aplasia Cutis Congenita, Nonsyndromic

Anatomical Context for Aplasia Cutis Congenita, Nonsyndromic

MalaCards organs/tissues related to Aplasia Cutis Congenita, Nonsyndromic:

42
Heart, Skin, Liver, Lung, Testes, Bone, Cortex

Publications for Aplasia Cutis Congenita, Nonsyndromic

Articles related to Aplasia Cutis Congenita, Nonsyndromic:

(show top 50) (show all 1612)
# Title Authors Year
1
Advanced adenoid cystic carcinoma (ACC) is featured by SWI/SNF chromatin remodeling complex aberrations. ( 30382367 )
2019
2
Performance of the Expanded Cardiovascular Risk Prediction Score for Rheumatoid Arthritis Is Not Superior to the ACC/AHA Risk Calculator. ( 30275258 )
2019
3
Correction to: 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: Executive Summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. ( 30933620 )
2019
4
Correction to: 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. ( 30933622 )
2019
5
Correction to: Interventional Therapy Versus Medical Therapy for Secundum Atrial Septal Defect: A Systematic Review (Part 2) for the 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. ( 30933623 )
2019
6
Sex Differences in Statin Prescribing in Diabetic and Heart Disease Patients in FQHCs: A Comparison of the ATPIII and 2013 ACC/AHA Cholesterol Guidelines. ( 30859113 )
2019
7
ACC/AATS/AHA/ASE/ASNC/HRS/SCAI/SCCT/SCMR/STS 2019 Appropriate Use Criteria for Multimodality Imaging in the Assessment of Cardiac Structure and Function in Nonvalvular Heart Disease: A Report of the American College of Cardiology Appropriate Use Criteria Task Force, American Association for Thoracic Surgery, American Heart Association, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, Society of Cardiovascular Computed Tomography, Society for Cardiovascular Magnetic Resonance, and the Society of Thoracic Surgeons. ( 30744922 )
2019
8
ACC/AHA 2017 definition of high blood pressure: implications for women with polycystic ovary syndrome. ( 30827526 )
2019
9
Impacts of the New 2017 ACC/AHA Hypertension Guideline on the Prevalence of Brachial Hypertension and Its Concordance with Central Hypertension. ( 30657845 )
2019
10
Hypolipogenic Effect of Shikimic Acid Via Inhibition of MID1IP1 and Phosphorylation of AMPK/ACC. ( 30700011 )
2019
11
Evaluation of ACC-deaminase-producing rhizobacteria to alleviate water-stress impacts in wheat (Triticum aestivum L.) plants. ( 30702926 )
2019
12
The 2017 ACC/AHA Hypertension Guidelines: Should they have included proven nonpharmacological blood pressure-lowering strategies such as Transcendental Meditation? ( 30714296 )
2019
13
Modulation of salt tolerance in Thai jasmine rice (Oryza sativa L. cv. KDML105) by Streptomyces venezuelae ATCC 10712 expressing ACC deaminase. ( 30718781 )
2019
14
ACC International: A World Where Innovation and Knowledge Optimize Cardiovascular Care and Outcomes. ( 30732718 )
2019
15
The dependence of leaf senescence on the balance between 1-aminocyclopropane-1-carboxylate acid synthase 1 (ACS1)-catalysed ACC generation and nitric oxide-associated 1 (NOS1)-dependent NO accumulation in Arabidopsis. ( 30734982 )
2019
16
Reduced gamma-amino butyric acid (GABA) and glutamine in the anterior cingulate cortex (ACC) of veterans exposed to trauma. ( 30735853 )
2019
17
ACC Plasticity Maintains Masseter Hyperalgesia Caused by Occlusal Interference. ( 30786804 )
2019
18
2019 ACC/AHA/ASE Advanced Training Statement on Echocardiography (Revision of the 2003 ACC/AHA Clinical Competence Statement on Echocardiography): A Report of the ACC Competency Management Committee. ( 30794876 )
2019
19
Medical Therapy for Systemic Right Ventricles: A Systematic Review (Part 1) for the 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. ( 30121238 )
2019
20
Increased Risk of Hypertension in Young Adults in Southwest China: Impact of the 2017 ACC/AHA High Blood Pressure Guideline. ( 30820764 )
2019
21
Peer Reviewer Acknowledgments and Abstracts of Proceedings. ( 30830797 )
2019
22
Abstracts of the Diabetes UK Professional Conference 2019, ACC Liverpool, Liverpool, 6-8 March 2019. ( 30838691 )
2019
23
Effect of Electroacupuncture at Different Acupoints on the Expression of NMDA Receptors in ACC and Colon in IBS Rats. ( 30854008 )
2019
24
Hospital Resource Utilization Before and After Transcatheter Aortic Valve Replacement: The STS/ACC TVT Registry. ( 30871697 )
2019
25
Increases in statin eligibility to reduce cardiovascular risk according to the 2013 ACC/AHA cholesterol guidelines in the Africa Middle East region: a sub-analysis of the Africa Middle East Cardiovascular Epidemiological (ACE) study. ( 30876390 )
2019
26
ACC deaminase plays a major role in Pseudomonas fluorescens YsS6 ability to promote the nodulation of Alpha- and Betaproteobacteria rhizobial strains. ( 30877322 )
2019
27
The New 2019 ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease. ( 30879338 )
2019
28
2019 ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease: Executive Summary. ( 30879339 )
2019
29
2019 ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease. ( 30879355 )
2019
30
Recent Innovations, Modifications, and Evolution of ACC/AHA Clinical Practice Guidelines: An Update for Our Constituencies: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. ( 30892927 )
2019
31
2019 ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease. ( 30894318 )
2019
32
2019 ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease: Executive Summary. ( 30894319 )
2019
33
Multivariate analysis of hypertension in general US adults based on the 2017 ACC/AHA guideline: data from the national health and nutrition examination survey 1999 to 2016. ( 30896317 )
2019
34
Image-guided volumetric modulated arc therapy (IG-VMAT) for unresectable ACC of the trachea: a feasible curative option. ( 30902839 )
2019
35
Recent Innovations, Modifications, and Evolution of ACC/AHA Clinical Practice Guidelines: An Update for Our Constituencies: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. ( 30904245 )
2019
36
KDOQI US Commentary on the 2017 ACC/AHA Hypertension Guideline. ( 30905361 )
2019
37
Similarities and Differences Between the ACC/AHA and ESH/ESC Guidelines for the Prevention, Detection, Evaluation, and Management of High Blood Pressure in Adults. ( 30920926 )
2019
38
New ACC/AHA Blood Pressure Guidelines and the Operational Readiness of Naval Aviators and Aircrew. ( 30922430 )
2019
39
Pharmacotherapy Research Priorities in Older Adults With Cardiovascular Disease in Nursing Homes, Assisted Living, and Home Care: Report From a Satellite Symposium of the ACC, AGS, NIA Workshop. ( 30922866 )
2019
40
Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases. ( 30936196 )
2019
41
ACC/AHA Versus ESC Guidelines on Prosthetic Heart Valve Management: JACC Guideline Comparison. ( 30947924 )
2019
42
Recent AHA/ACC guidelines on cholesterol management expands the role of the clinical laboratory. ( 30953613 )
2019
43
Uncoupling nNOS-PSD-95 in the ACC can inhibit contextual fear generalization. ( 30954227 )
2019
44
ACC/AHA lipids & ASCVD guidelines: 2018 update. ( 30974110 )
2019
45
2018 ACC/HRS/NASCI/SCAI/SCCT Expert Consensus Document on Optimal Use of Ionizing Radiation in Cardiovascular Imaging: Best Practices for Safety and Effectiveness-A Review for the Cardiac Anesthesiologist. ( 30979644 )
2019
46
Co-application of ACC-deaminase producing PGPR and timber-waste biochar improves pigments formation, growth and yield of wheat under drought stress. ( 30979925 )
2019
47
Uncovering the Real Power and Value Behind ACC Membership. ( 31000003 )
2019
48
Status of Hypertension in Tehran: Potential impact of the ACC/AHA 2017 and JNC7 Guidelines, 2012-2015. ( 31011156 )
2019
49
Indole-3-acetic-acid and ACC deaminase producing Leclercia adecarboxylata MO1 improves Solanum lycopersicum L. growth and salinity stress tolerance by endogenous secondary metabolites regulation. ( 31023221 )
2019
50
Induction of tolerance to salinity in wheat genotypes by plant growth promoting endophytes: Involvement of ACC deaminase and antioxidant enzymes. ( 31029030 )
2019

Variations for Aplasia Cutis Congenita, Nonsyndromic

UniProtKB/Swiss-Prot genetic disease variations for Aplasia Cutis Congenita, Nonsyndromic:

76
# Symbol AA change Variation ID SNP ID
1 BMS1 p.Arg930His VAR_072539 rs587777706

ClinVar genetic disease variations for Aplasia Cutis Congenita, Nonsyndromic:

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 GRCh38 Chromosome 1, 154601801: 154601801
4 ADAR NM_001111.5(ADAR): c.841A> G (p.Ser281Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 154574277: 154574277

Expression for Aplasia Cutis Congenita, Nonsyndromic

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

Pathways for Aplasia Cutis Congenita, Nonsyndromic

GO Terms for Aplasia Cutis Congenita, Nonsyndromic

Sources for Aplasia Cutis Congenita, Nonsyndromic

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75 UMLS via Orphanet
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