ACC
MCID: APL023
MIFTS: 32

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 57
Congenital Defect of Skull and Scalp 57 75
Aplasia Cutis Congenita 59 73
Acc 57 75
Aplasia Cutis Congenita, Non-Syndromic 75
Scalp Defect, Congenital 57
Congenital Scalp Defect 75

Characteristics:

Orphanet epidemiological data:

59
aplasia cutis congenita
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
aplasia cutis congenita, nonsyndromic:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 107600
Orphanet 59 ORPHA1114
ICD10 via Orphanet 34 Q84.8
UMLS via Orphanet 74 C0282160
MeSH 44 D004476
SNOMED-CT via HPO 69 263681008 258211005
UMLS 73 C0282160

Summaries for Aplasia Cutis Congenita, Nonsyndromic

OMIM : 57 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 skin, bone and kidney, and related phenotypes are aplasia cutis congenita over the scalp vertex and facial palsy

UniProtKB/Swiss-Prot : 75 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 158)
# Related Disease Score Top Affiliating Genes
1 aplasia cutis congenita 31.6 BMS1 DLL4
2 aplasia cutis congenita, high myopia, and cone-rod dysfunction 12.4
3 aplasia cutis congenita of limbs, autosomal recessive 12.4
4 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita 12.3
5 motor sensory neuropathy type 1 aplasia cutis congenita 12.3
6 adams-oliver syndrome 1 12.3
7 adams-oliver syndrome 12.3
8 focal facial dermal dysplasia 1, brauer type 12.2
9 linear skin defects with multiple congenital anomalies 2 12.1
10 scalp defects and postaxial polydactyly 11.9
11 corpus callosum, agenesis of 11.8
12 adrenocortical carcinoma, hereditary 11.8
13 adenoid cystic carcinoma 11.7
14 focal facial dermal dysplasia 11.6
15 jones hersh yusk syndrome 11.6
16 didymosis aplasticosebacea 11.6
17 oculoectodermal syndrome 11.6
18 scalp-ear-nipple syndrome 11.5
19 adams-oliver syndrome 4 11.5
20 adams-oliver syndrome 5 11.5
21 adams-oliver syndrome 6 11.5
22 focal facial dermal dysplasia 3, setleis type 11.4
23 adams-oliver syndrome 3 11.4
24 focal facial dermal dysplasia 4 11.4
25 recessive dystrophic epidermolysis bullosa-generalized other 11.4
26 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 11.3
27 focal facial dermal dysplasia 2, brauer-setleis type 11.3
28 acalvaria 11.3
29 corpus callosum, agenesis of, with abnormal genitalia 11.3
30 aplasia cutis congenita with intestinal lymphangiectasia 11.1
31 agenesis of the corpus callosum with peripheral neuropathy 11.1
32 aplasia cutis congenita of limbs recessive 11.1
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 esterase c 10.7
44 epidermolysis bullosa 10.6
45 oliver syndrome 10.5
46 myocardial infarction 10.5
47 heart disease 10.5
48 arteries, anomalies of 10.5
49 pyloric atresia 10.5
50 cardiac conduction defect 10.4

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Aplasia Cutis Congenita, Nonsyndromic:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia cutis congenita over the scalp vertex 59 32 Very frequent (99-80%) HP:0004471
2 facial palsy 59 Occasional (29-5%)
3 skin ulcer 59 Frequent (79-30%)
4 prolonged bleeding time 59 Occasional (29-5%)
5 abnormality of bone mineral density 59 Occasional (29-5%)
6 spinal dysraphism 59 Very frequent (99-80%)
7 skull defect 59 Very frequent (99-80%)
8 congenital localized absence of skin 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Aplasia Cutis Congenita, Nonsyndromic:

46
# 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:

41
Skin, Bone, Kidney, Liver, Heart, Pancreas, Salivary Gland

Publications for Aplasia Cutis Congenita, Nonsyndromic

Articles related to Aplasia Cutis Congenita, Nonsyndromic:

# Title Authors Year
1
Conservative management of congenital defect of skull and scalp. ( 7071733 )
1982

Variations for Aplasia Cutis Congenita, Nonsyndromic

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

75
# 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_014753.3(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, 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

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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