ACC
MCID: APL006
MIFTS: 52

Aplasia Cutis Congenita (ACC) malady

Categories: Rare diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Aplasia Cutis Congenita

Aliases & Descriptions for Aplasia Cutis Congenita:

Name: Aplasia Cutis Congenita 50 24 29 52 69
Scalp Defect Congenital 50 25
Congenital Defect of the Skull and Scalp 25
Aplasia Cutis Congenita Nonsyndromic 50
Congenital Defect of Skull and Scalp 50
Nonsyndromic Aplasia Cutis Congenita 25
Congenital Absence of Skin on Scalp 25
Congenital Ulcer of the Newborn 25
Acc 25

Classifications:



Summaries for Aplasia Cutis Congenita

NIH Rare Diseases : 50 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.  last updated: 9/17/2016

MalaCards based summary : Aplasia Cutis Congenita, also known as scalp defect congenital, is related to aplasia cutis congenita, nonsyndromic and aplasia cutis congenita, high myopia, and cone-rod dysfunction, and has symptoms including facial palsy, skin ulcer and prolonged bleeding time. An important gene associated with Aplasia Cutis Congenita is BMS1 (BMS1, Ribosome Biogenesis Factor), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Development NOTCH1-mediated pathway for NF-KB activity modulation. The drugs Cyclophosphamide and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are craniofacial and mortality/aging

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 : 71 Aplasia cutis congenita (also known as \"Cutis aplasia,\" \"Congenital absence of skin,\" and... more...

Related Diseases for Aplasia Cutis Congenita

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
id Related Disease Score Top Affiliating Genes
1 aplasia cutis congenita, nonsyndromic 12.4
2 aplasia cutis congenita, high myopia, and cone-rod dysfunction 12.2
3 aplasia cutis congenita with intestinal lymphangiectasia 12.1
4 aplasia cutis congenita of limbs, autosomal recessive 12.1
5 aplasia cutis congenita of limbs recessive 12.1
6 adams-oliver syndrome 12.0
7 motor sensory neuropathy type 1 aplasia cutis congenita 12.0
8 aplasia cutis congenita dominant 12.0
9 aplasia cutis congenita recessive 12.0
10 adams-oliver syndrome 1 11.8
11 linear skin defects with multiple congenital anomalies 11.7
12 epidermolysis bullosa, junctional, with pyloric stenosis 11.7
13 focal facial dermal dysplasia 1, brauer type 11.6
14 salivary gland adenoid cystic carcinoma 11.5
15 focal facial dermal dysplasia 11.4
16 didymosis aplasticosebacea 11.3
17 adams-oliver syndrome 4 11.3
18 adams-oliver syndrome 5 11.3
19 adams-oliver syndrome 6 11.3
20 scalp-ear-nipple syndrome 11.3
21 adams-oliver syndrome 2 11.3
22 oculoectodermal syndrome 11.3
23 focal facial dermal dysplasia 3, setleis type 11.2
24 adams-oliver syndrome 3 11.2
25 focal facial dermal dysplasia 4 11.2
26 acalvaria 11.1
27 focal facial dermal dysplasia 2, brauer-setleis type 11.1
28 jones hersh yusk syndrome 11.0
29 oliver syndrome 10.3
30 epidermolysis bullosa 10.3
31 hypotrichosis 9 10.2 BMS1 DLL4
32 epilepsy, partial, with pericentral spikes 10.2 EOGT RBPJ
33 essential tremor 10.2 ARHGAP31 NOTCH1
34 mental retardation with language impairment and with or without autistic features 10.2 EOGT RBPJ
35 alopecia 10.1
36 retinitis 10.0
37 syndactyly 10.0
38 tetralogy of fallot 10.0
39 foxg1 syndrome 10.0 CYP26C1 TWIST2
40 bilirubin metabolic disorder 9.9 COL7A1 ITGA6 ITGB4
41 nephrotic syndrome, type 2 9.9 COL7A1 ITGA6 ITGB4
42 thrombosis 9.8
43 meningoencephalocele 9.8
44 lipoma 9.8
45 esophageal atresia 9.8
46 epidermolysis bullosa simplex 9.8
47 cutis marmorata telangiectatica congenita 9.8
48 microphthalmia 9.8
49 anophthalmia/microphthalmia 9.8
50 microcephaly 9.8

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)
id Description HPO Frequency HPO Source Accession
1 facial palsy 32 HP:0010628
2 skin ulcer 32 HP:0200042
3 prolonged bleeding time 32 HP:0003010
4 abnormality of bone mineral density 32 HP:0004348
5 spinal dysraphism 32 HP:0010301
6 aplasia cutis congenita over the scalp vertex 32 HP:0004471
7 congenital localized absence of skin 32 HP:0007383
8 calvarial skull defect 32 HP:0001362

MGI Mouse Phenotypes related to Aplasia Cutis Congenita:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.91 ACHE COL7A1 CYP26C1 ITGA6 ITGB4 NOTCH1
2 mortality/aging MP:0010768 9.85 ACHE BMS1 COL7A1 CYP26C1 DLL4 ITGA6
3 digestive/alimentary MP:0005381 9.8 ITGB4 NOTCH1 RBPJ TWIST2 COL7A1 ITGA6
4 hearing/vestibular/ear MP:0005377 9.65 ACHE ITGA6 ITGB4 NOTCH1 TWIST2
5 respiratory system MP:0005388 9.43 ACHE ITGA6 ITGB4 NOTCH1 RBPJ TWIST2
6 vision/eye MP:0005391 9.17 ACHE BMS1 DLL4 ITGA6 ITGB4 NOTCH1

Drugs & Therapeutics for Aplasia Cutis Congenita

Drugs for Aplasia Cutis Congenita (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 68)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
2
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
3
Vidarabine Approved Phase 2, Phase 3 24356-66-9 32326 21704
4
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
7
Lenograstim Approved Phase 2, Phase 3 135968-09-1
8
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
9 Prednisolone acetate Phase 2, Phase 3
10 Alkylating Agents Phase 2, Phase 3
11 glucocorticoids Phase 2, Phase 3
12 Adjuvants, Immunologic Phase 2, Phase 3
13 Gastrointestinal Agents Phase 2, Phase 3
14 Neuroprotective Agents Phase 2, Phase 3
15 Hormone Antagonists Phase 2, Phase 3,Phase 1
16 Hormones Phase 2, Phase 3,Phase 1
17 Peripheral Nervous System Agents Phase 2, Phase 3
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
19 Prednisolone hemisuccinate Phase 2, Phase 3
20 Prednisolone phosphate Phase 2, Phase 3
21 Anti-Infective Agents Phase 2, Phase 3
22 Immunosuppressive Agents Phase 2, Phase 3, Phase 1
23 Protective Agents Phase 2, Phase 3
24 Antiemetics Phase 2, Phase 3
25 Anti-Inflammatory Agents Phase 2, Phase 3
26 Antilymphocyte Serum Phase 2, Phase 3
27 Antimetabolites Phase 2, Phase 3
28 Antimetabolites, Antineoplastic Phase 2, Phase 3
29 Methylprednisolone acetate Phase 2, Phase 3
30 Methylprednisolone Hemisuccinate Phase 2, Phase 3
31 Antirheumatic Agents Phase 2, Phase 3, Phase 1
32 Antineoplastic Agents, Alkylating Phase 2, Phase 3
33 Autonomic Agents Phase 2, Phase 3
34 Antineoplastic Agents, Hormonal Phase 2, Phase 3
35 Antiviral Agents Phase 2, Phase 3
36
Iron Approved Phase 2 7439-89-6 23925
37
Cyclosporine Approved, Investigational, Vet_approved Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
38
Melphalan Approved Phase 2 148-82-3 4053 460612
39
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
40
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
41
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
42
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
43
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
44
Mechlorethamine Approved Phase 2 51-75-2 4033
45
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
46
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
47
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
48 Trace Elements Phase 2
49 Liver Extracts Phase 2
50 Micronutrients Phase 2

Interventional clinical trials:

(show all 24)
id Name Status NCT ID Phase
1 Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA Completed NCT00455312 Phase 2, Phase 3
2 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3
3 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3
4 High-Tc Susceptometer to Monitor Transfusional Iron Overload Completed NCT01241357 Phase 2
5 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2
6 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2
7 Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita Recruiting NCT01659606 Phase 2
8 Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Active, not recruiting NCT00987480 Phase 2
9 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2
10 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2
11 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
12 Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
13 Fertility Preservation in Women Who Will Have Gonadotoxic Therapy or Hematopoetic Stem Cell Transplantation, and in Women With Sickle Cell Disease Completed NCT02225145
14 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
15 A New Reagent Assay Examining Natural Parvovirus B19 Infection in Sickle Cell Disease Completed NCT02261480
16 Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC) Recruiting NCT01630421
17 Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia Recruiting NCT02162420
18 CD34+ Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation for Non-Malignant Disease Recruiting NCT01966367
19 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
20 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
21 Study of Selected X-Linked Disorders: Aicardi Syndrome Recruiting NCT00697411
22 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
23 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359
24 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851

Search NIH Clinical Center for Aplasia Cutis Congenita

Genetic Tests for Aplasia Cutis Congenita

Genetic tests related to Aplasia Cutis Congenita:

id Genetic test Affiliating Genes
1 Aplasia Cutis Congenita 29 24

Anatomical Context for Aplasia Cutis Congenita

MalaCards organs/tissues related to Aplasia Cutis Congenita:

39
Skin, Bone, Heart, Brain, Eye, Thyroid

Publications for Aplasia Cutis Congenita

Articles related to Aplasia Cutis Congenita:

(show top 50) (show all 296)
id Title Authors Year
1
A Novel Local Autologous Bone Graft Donor Site After Scalp Tissue Expansion in Aplasia Cutis Congenita. ( 27192637 )
2016
2
Technique for Management of Aplasia Cutis Congenita of the Scalp With a Skin Allograft. ( 27171959 )
2016
3
Bullous Kaposiform Hemangioendothelioma Masquerading as Aplasia Cutis Congenita. ( 27339319 )
2016
4
Starburst hair follicles: A dermoscopic clue for aplasia cutis congenita. ( 27646756 )
2016
5
Aplasia cutis congenita, group 5 without fetus papyraceus in two newborns. ( 27549868 )
2016
6
Trichoscopy of Focal Alopecia in Children - New Trichoscopic Findings: Hair Bulbs Arranged Radially along Hair-Bearing Margins in Aplasia Cutis Congenita. ( 27843914 )
2016
7
Familial aplasia cutis congenita associated with mega-cisterna magna. ( 27594612 )
2016
8
Failed conservative management of a case of aplasia cutis congenita in a low-income country. ( 27525077 )
2016
9
Aplasia Cutis Congenita Associated With Aplasia of the Superficial Temporal Artery. ( 27213745 )
2016
10
Aplasia Cutis Congenita of the Scalp, Composite Type: The Criticality and Inseparability of Neurosurgical and Plastic Surgical Management. ( 26937970 )
2016
11
Aplasia Cutis Congenita of the Scalp with a Familial Pattern: A Case Report. ( 27853695 )
2016
12
Conservative Treatment of Large Aplasia Cutis Congenita of the Scalp With Bone Defect With Basic Fibroblast Growth Factor Application. ( 28045831 )
2016
13
Aplasia cutis congenita in a Blaschkoid distribution: a lesser known variant. ( 26755449 )
2016
14
Infant bald patch: ultrasonographic diagnosis of aplasia cutis congenita. ( 27768234 )
2016
15
Aplasia Cutis Congenita of the Scalp with a Familial Pattern. ( 27429826 )
2016
16
Treatment of multiple wounds of aplasia cutis congenita on the lower limb: a case report. ( 27974014 )
2016
17
Aplasia cutis congenita of the scalp with sagittal venous sinus exposure. ( 26933126 )
2016
18
Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn. ( 26864810 )
2016
19
Extensive Aplasia Cutis Congenita with Associated Vanishing Twin Syndrome. ( 26319922 )
2015
20
Calvarial Regeneration With Use of Acellular Dermal Matrix in Aplasia Cutis Congenita. ( 26267580 )
2015
21
Aplasia cutis congenita: A case report and literature review. ( 26640568 )
2015
22
Aplasia cutis congenita: a conservative approach of a case with large, extensive skin, and underlying skull defect. ( 26509020 )
2015
23
Aplasia cutis congenita presenting as vacuum-extractor-related trauma. ( 25754144 )
2015
24
Aplasia cutis congenita of the scalp--what are the steps to be followed? Case report and review of the literature. ( 25672305 )
2015
25
Outcomes of Tissue Expander Application for Scalp Reconstruction in Extensive Aplasia Cutis Congenita. ( 26537513 )
2015
26
Large defects in aplasia cutis congenita treated by large-sized thin split-thickness skin grafting: long-term follow-up of 18 patients. ( 26010404 )
2015
27
Type VI Aplasia Cutis Congenita: Bart's Syndrome. ( 26609453 )
2015
28
Aplasia cutis congenita: report of 22 cases. ( 26016611 )
2015
29
Aplasia Cutis Congenita in a Newborn Child Associated with Two Fetus Papyraceous. ( 26724883 )
2015
30
Our experience with a severe case of aplasia cutis congenita with a large skull defect. ( 26228315 )
2015
31
Aplasia Cutis Congenita Associated with Fetus Papyraceus. ( 26212801 )
2015
32
Aplasia cutis congenita with "vanishing twin". ( 25919737 )
2015
33
Nonsyndromic aplasia cutis congenita: a case report. ( 26016981 )
2015
34
Extensive Intracranial Arteriovenous Malformation in a Child with Aplasia Cutis Congenita. ( 25787706 )
2015
35
An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: A previously undescribed syndrome? ( 25708102 )
2015
36
Fatal superior sagittal sinus hemorrhage as a complication of aplasia cutis congenita: a case report and literature review. ( 25614301 )
2015
37
Aplasia cutis congenita on lumbosacral area. ( 24616877 )
2014
38
Conservative Healing of an 11a88A9a889-cm Aplasia Cutis Congenita of the Scalp with Bone Defect. ( 25485218 )
2014
39
Aplasia cutis congenita associated with type I split cord malformation: Unusual case. ( 24891898 )
2014
40
Combined conservative and surgical management for aplasia cutis congenita: a case report and review of the literature. ( 25860783 )
2014
41
Aplasia cutis congenita: clinical management and a new classification system. ( 25347652 )
2014
42
Aplasia cutis congenita: a rare case with extensive symmetrically distributed lesions. ( 25327077 )
2014
43
Aplasia cutis congenita: review of 29 cases and proposal of a therapeutic strategy. ( 22903250 )
2013
44
Type v aplasia cutis congenita: case report, review of the literature, and proposed treatment algorithm. ( 22472005 )
2013
45
A rare case of aplasia cutis congenita. ( 23737321 )
2013
46
Aplasia cutis congenita: approach to evaluation and management. ( 24552406 )
2013
47
BMS1 is mutated in aplasia cutis congenita. ( 23785305 )
2013
48
Aplasia cutis congenita--a case study of a family with two siblings with this disorder. ( 23513358 )
2013
49
Aplasia Cutis Congenita in a Setting of Fetus Papyraceus Associated with Small Fetal Abdominal Circumference and High Alpha-Fetoprotein and Amniotic Acetylcholinesterase. ( 24118049 )
2013
50
Coexistence of aplasia cutis congenita, faun tail nevus and fetus papyraceus. ( 24133564 )
2013

Variations for Aplasia Cutis Congenita

ClinVar genetic disease variations for Aplasia Cutis Congenita:

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

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

Pathways for Aplasia Cutis Congenita

GO Terms for Aplasia Cutis Congenita

Cellular components related to Aplasia Cutis Congenita according to GeneCards Suite gene sharing:

id 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)
id Name GO ID Score Top Affiliating Genes
1 Notch signaling pathway GO:0007219 9.78 DLL4 NOTCH1 RBPJ
2 regulation of neurogenesis GO:0050767 9.63 DLL4 NOTCH1
3 positive regulation of cardiac muscle cell proliferation GO:0060045 9.63 NOTCH1 RBPJ
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 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.6 NOTCH1 RBPJ
8 inflammatory response to antigenic stimulus GO:0002437 9.59 NOTCH1 RBPJ
9 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.58 DLL4 NOTCH1
10 hemidesmosome assembly GO:0031581 9.58 ITGA6 ITGB4
11 cardiac ventricle morphogenesis GO:0003208 9.57 DLL4 NOTCH1
12 cardiac left ventricle morphogenesis GO:0003214 9.56 NOTCH1 RBPJ
13 amelogenesis GO:0097186 9.55 ITGA6 ITGB4
14 dorsal aorta morphogenesis GO:0035912 9.54 DLL4 RBPJ
15 pericardium morphogenesis GO:0003344 9.52 DLL4 NOTCH1
16 cardiac atrium morphogenesis GO:0003209 9.51 DLL4 NOTCH1
17 positive regulation of transcription of Notch receptor target GO:0007221 9.49 NOTCH1 RBPJ
18 nail development GO:0035878 9.48 ITGA6 ITGB4
19 interleukin-4 secretion GO:0072602 9.46 NOTCH1 RBPJ
20 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.43 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:

id 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
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
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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