MCID: APL023
MIFTS: 23

Aplasia Cutis Congenita, Nonsyndromic

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Aplasia Cutis Congenita, Nonsyndromic

MalaCards integrated aliases for Aplasia Cutis Congenita, Nonsyndromic:

Name: Aplasia Cutis Congenita, Nonsyndromic 54
Aplasia Cutis Congenita 56 69
Aplasia Cutis Congenita, Non-Syndromic 71
Congenital Defect of Skull and Scalp 71
Congenital Scalp Defect 71
Acc 71

Characteristics:

Orphanet epidemiological data:

56
aplasia cutis congenita
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

54
Miscellaneous:
one 5-generation acc family with mutation in bms1 has been described (last curated august 2014)

Inheritance:
autosomal recessive
autosomal dominant


HPO:

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


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 107600
Orphanet 56 ORPHA1114
UMLS via Orphanet 70 C0282160
ICD10 via Orphanet 34 Q84.8
MeSH 42 D004476
SNOMED-CT via HPO 65 263681008 258211005

Summaries for Aplasia Cutis Congenita, Nonsyndromic

OMIM : 54
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 aplasia cutis congenita, is related to adams-oliver syndrome and aplasia cutis congenita, and has symptoms including aplasia cutis congenita over the scalp vertex, spinal dysraphism and congenital localized absence of skin. An important gene associated with Aplasia Cutis Congenita, Nonsyndromic is BMS1 (BMS1, Ribosome Biogenesis Factor). Affiliated tissues include skin and bone, and related phenotype is vision/eye.

UniProtKB/Swiss-Prot : 71 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 Aplasia Cutis Congenita Dominant
Aplasia Cutis Congenita Recessive

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

id Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 11.6
2 aplasia cutis congenita 11.4
3 scalp defects and postaxial polydactyly 11.4
4 aplasia cutis congenita recessive 9.5 BMS1 DLL4
5 telangiectasia, hereditary hemorrhagic, type 5 9.2 BMS1 DLL4

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:

54

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

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

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:

56 32 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia cutis congenita over the scalp vertex 56 32 Very frequent (99-80%) HP:0004471
2 spinal dysraphism 56 Very frequent (99-80%)
3 congenital localized absence of skin 56 Very frequent (99-80%)
4 prolonged bleeding time 56 Occasional (29-5%)
5 facial palsy 56 Occasional (29-5%)
6 skin ulcer 56 Frequent (79-30%)
7 abnormality of bone mineral density 56 Occasional (29-5%)
8 skull defect 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Aplasia Cutis Congenita, Nonsyndromic:

44
id 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:


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, Nonsyndromic

Genetic Tests for Aplasia Cutis Congenita, Nonsyndromic

Anatomical Context for Aplasia Cutis Congenita, Nonsyndromic

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

39
Skin, Bone

Publications for Aplasia Cutis Congenita, Nonsyndromic

Variations for Aplasia Cutis Congenita, Nonsyndromic

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

71
id Symbol AA change Variation ID SNP ID
1 BMS1 p.Arg930His VAR_072539 rs587777706

ClinVar genetic disease variations for Aplasia Cutis Congenita, Nonsyndromic:

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, 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
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
46 NCI
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
Content
Loading form....