ACC
MCID: APL023
MIFTS: 30

Aplasia Cutis Congenita, Nonsyndromic (ACC)

Categories: 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
Acc 57 25 74
Congenital Defect of Skull and Scalp 57 74
Congenital Defect of the Skull and Scalp 25
Aplasia Cutis Congenita, Non-Syndromic 74
Nonsyndromic Aplasia Cutis Congenita 25
Congenital Absence of Skin on Scalp 25
Congenital Ulcer of the Newborn 25
Scalp Defect, Congenital 57
Aplasia Cutis Congenita 72
Scalp Defect Congenital 25
Congenital Scalp Defect 74

Characteristics:

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 dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 107600
MeSH 44 D004476
UMLS 72 C0282160

Summaries for Aplasia Cutis Congenita, Nonsyndromic

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. Most affected babies have a single lesion. The lesions vary in size and can be differently shaped: some are round or oval, others rectangular, and still others star-shaped. They usually leave a scar after they heal. When the scalp is involved, there may be an absence of hair growth (alopecia) in the affected area. When the underlying bone and other tissues are involved, affected individuals are at higher risk of infections. If these severe defects occur on the head, the membrane that covers the brain (the dura mater) may be exposed, and life-threatening bleeding may occur from nearby vessels. Skin lesions are typically the only feature of nonsyndromic aplasia cutis congenita, although other skin problems and abnormalities of the bones and other tissues occur rarely. However, the characteristic skin lesions can occur as one of many symptoms in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome. These instances are described as syndromic aplasia cutis congenita.

MalaCards based summary : Aplasia Cutis Congenita, Nonsyndromic, also known as acc, is related to scalp defects and postaxial polydactyly and corpus callosum, agenesis of. An important gene associated with Aplasia Cutis Congenita, Nonsyndromic is BMS1 (BMS1 Ribosome Biogenesis Factor). Affiliated tissues include skin, brain and bone, and related phenotype is aplasia cutis congenita over the scalp vertex.

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)

UniProtKB/Swiss-Prot : 74 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 235)
# Related Disease Score Top Affiliating Genes
1 scalp defects and postaxial polydactyly 12.0
2 corpus callosum, agenesis of 12.0
3 adrenal cortical carcinoma 12.0
4 adams-oliver syndrome 1 11.8
5 adenoid cystic carcinoma 11.8
6 adrenal carcinoma 11.7
7 agenesis of the corpus callosum with peripheral neuropathy 11.6
8 aplasia cutis congenita 11.6
9 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 11.5
10 corpus callosum, agenesis of, with abnormal genitalia 11.5
11 aplasia cutis congenita with intestinal lymphangiectasia 11.3
12 epidermolysis bullosa junctionalis with pyloric atresia 11.2
13 aicardi syndrome 11.2
14 acetyl-coa carboxylase deficiency 11.2
15 vici syndrome 11.1
16 corpus callosum, partial agenesis of, x-linked 11.1
17 adams-oliver syndrome 2 11.1
18 adams-oliver syndrome 11.1
19 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 11.1
20 ceruminous adenocarcinoma 11.1
21 x-linked lissencephaly with abnormal genitalia 11.1
22 acinar cell carcinoma of pancreas 11.1
23 heart valve disease 10.6
24 intermediate coronary syndrome 10.6
25 acute myocardial infarction 10.5
26 hyperlipoproteinemia, type iii 10.5
27 coronary artery anomaly 10.5
28 cardiac conduction defect 10.5
29 arteries, anomalies of 10.5
30 adrenocortical carcinoma, hereditary 10.5
31 adrenal cortical adenocarcinoma 10.5
32 ischemia 10.4
33 lipid metabolism disorder 10.4
34 peripheral vascular disease 10.4
35 peripheral artery disease 10.4
36 syncope 10.4
37 heart disease 10.3
38 vascular disease 10.3
39 myocardial infarction 10.3
40 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
41 cardiogenic shock 10.3
42 congestive heart failure 10.3
43 atrial fibrillation 10.3
44 hypercholesterolemia, familial, 1 10.2
45 mitral valve insufficiency 10.2
46 chronic kidney disease 10.2
47 fatty liver disease 10.2
48 chronic pain 10.2
49 saethre-chotzen syndrome 10.1
50 fatty liver disease, nonalcoholic 1 10.1

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:

32
# Description HPO Frequency HPO Source Accession
1 aplasia cutis congenita over the scalp vertex 32 HP:0004471

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

Drugs & Therapeutics for Aplasia Cutis Congenita, Nonsyndromic

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Relevance of Trichoscopy in Differential Diagnosis of Focal Non-cicatricial Alopecia in Children Unknown status NCT03260777
2 Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms 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, Brain, Bone

Publications for Aplasia Cutis Congenita, Nonsyndromic

Articles related to Aplasia Cutis Congenita, Nonsyndromic:

(show all 25)
# Title Authors PMID Year
1
BMS1 is mutated in aplasia cutis congenita. 8 71
23785305 2013
2
Mutations in KCTD1 cause scalp-ear-nipple syndrome. 8
23541344 2013
3
Autosomal dominant aplasia cutis in three generations and one case with preaxial polydactyly in the last generation. 8
21614989 2011
4
Aplasia cutis congenita associated with Goltz syndrome in a male neonate. 8
20420028 2010
5
Extensive form of aplasia cutis congenita: a new syndrome? 8
9678709 1998
6
Further examples of autosomal dominant transmission of nonsyndromic aplasia cutis congenita. 8
9415483 1997
7
Aplasia cutis congenita and associated disorders: an update. 8
7554362 1995
8
Aplasia cutis congenita of the scalp in five successive generations of one family. 8
7809261 1995
9
Litigation over congenital scalp defects. 8
1346711 1992
10
Aplasia cutis congenita of the scalp without other defects in three siblings. 8
1515766 1992
11
[Familial manifestation of a circumscribed cutaneous aplasia of the vertex associated, in one case, with cardiac malformation (author's transl)]. 8
752066 1978
12
Hereditary aplasia cutis congenita and associated defects. Three instances in one family and a survey of reported cases. 8
862297 1977
13
The 4p-syndrome, with a report of two new cases. 8
4725911 1973
14
Aplasia cutis congenita. 8
5536130 1970
15
Congenital defect of scalp and skull in three generations of one family; case report. 8
5423487 1970
16
Congenital defects of the scalp. A surgical approach to aplasia cutis congenita. 8
4917433 1970
17
Congenital scalp defects in mother and child. 8
6024866 1967
18
CONGENITAL SCALP DEFECTS IN TWIN SISTERS. 8
14332364 1965
19
CONGENITAL SCALP DEFECTS IN FATHER AND SON. 8
14332365 1965
20
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. 8
5895684 1965
21
[Aseptic gangrene of the cranium as hereditary circumscribed aplasia of the newborn]. 8
13946964 1963
22
Aplasia cutis congenita. 8
14037468 1962
23
[Transmission, through three generations, of circumscribed cutaneous aplasia of the crown of the head]. 8
13066907 1953
24
Localized Congenital Defects of the Scalp. 8
29639888 1931
25
Conservative management of congenital defect of skull and scalp. 38
7071733 1982

Variations for Aplasia Cutis Congenita, Nonsyndromic

ClinVar genetic disease variations for Aplasia Cutis Congenita, Nonsyndromic:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BMS1 NM_014753.4(BMS1): c.2789G> A (p.Arg930His) single nucleotide variant Pathogenic rs587777706 10:43315975-43315975 10:42820527-42820527
2 ADAR NM_001111.5(ADAR): c.841A> G (p.Ser281Gly) single nucleotide variant Uncertain significance 1:154574277-154574277 1:154601801-154601801

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

74
# Symbol AA change Variation ID SNP ID
1 BMS1 p.Arg930His VAR_072539 rs587777706

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 EFO
18 ExPASy
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28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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