AOS4
MCID: ADM009
MIFTS: 26

Adams-Oliver Syndrome 4 (AOS4)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Adams-Oliver Syndrome 4

MalaCards integrated aliases for Adams-Oliver Syndrome 4:

Name: Adams-Oliver Syndrome 4 57 72 29 6 70
Aos4 57 72
Adams-Oliver Syndrome, Type 4 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

31
adams-oliver syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 615297
OMIM Phenotypic Series 57 PS100300
UMLS 70 C3809092

Summaries for Adams-Oliver Syndrome 4

UniProtKB/Swiss-Prot : 72 Adams-Oliver syndrome 4: A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins.

MalaCards based summary : Adams-Oliver Syndrome 4, also known as aos4, is related to adams-oliver syndrome. An important gene associated with Adams-Oliver Syndrome 4 is EOGT (EGF Domain Specific O-Linked N-Acetylglucosamine Transferase). Affiliated tissues include eye, temporal lobe and occipital lobe, and related phenotypes are umbilical hernia and atrial septal defect

OMIM® : 57 Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes (summary by Shaheen et al., 2013). For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300). (615297) (Updated 20-May-2021)

Related Diseases for Adams-Oliver Syndrome 4

Diseases in the Adams-Oliver Syndrome family:

Adams-Oliver Syndrome 1 Adams-Oliver Syndrome 2
Adams-Oliver Syndrome 3 Adams-Oliver Syndrome 4
Adams-Oliver Syndrome 5 Adams-Oliver Syndrome 6

Diseases related to Adams-Oliver Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 11.0

Symptoms & Phenotypes for Adams-Oliver Syndrome 4

Human phenotypes related to Adams-Oliver Syndrome 4:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 umbilical hernia 31 occasional (7.5%) HP:0001537
2 atrial septal defect 31 occasional (7.5%) HP:0001631
3 short toe 31 occasional (7.5%) HP:0001831
4 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
5 ventricular septal defect 31 occasional (7.5%) HP:0001629
6 cutis marmorata 31 occasional (7.5%) HP:0000965
7 hypoplastic toenails 31 HP:0001800
8 toenail dysplasia 31 HP:0100797

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Nails:
hypoplastic toenails
dysplastic toenails
aplastic toenails

Cardiovascular Vascular:
patent ductus arteriosus (rare)

Head And Neck Head:
cutis aplasia of scalp

Skeletal Feet:
absent distal phalanges of some or all toes (in some patients)
absent middle phalanges of some toes (rare)
hypoplastic toes (rare)
soft tissue syndactyly (rare)

Neurologic Central Nervous System:
temporal lobe infarct (rare)
occipital lobe infarct (rare)

Cardiovascular Heart:
ventricular septal defect (rare)
atrial septal defect (rare)

Abdomen External Features:
umbilical hernia (in some patients)

Skeletal Skull:
bony defect of scalp underlying cutis aplasia (in some patients)

Skin Nails Hair Skin:
aplasia cutis of scalp
cutis marmorata (rare)
cafe-au-lait spots on chest and abdomen (rare)

Clinical features from OMIM®:

615297 (Updated 20-May-2021)

Drugs & Therapeutics for Adams-Oliver Syndrome 4

Search Clinical Trials , NIH Clinical Center for Adams-Oliver Syndrome 4

Genetic Tests for Adams-Oliver Syndrome 4

Genetic tests related to Adams-Oliver Syndrome 4:

# Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 4 29 EOGT

Anatomical Context for Adams-Oliver Syndrome 4

MalaCards organs/tissues related to Adams-Oliver Syndrome 4:

40
Eye, Temporal Lobe, Occipital Lobe

Publications for Adams-Oliver Syndrome 4

Articles related to Adams-Oliver Syndrome 4:

# Title Authors PMID Year
1
Adams-Oliver syndrome caused by mutations of the EOGT gene. 6 57
31368252 2019
2
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. 57 6
23522784 2013
3
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 6
29924900 2018
4
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. 6
23860037 2014

Variations for Adams-Oliver Syndrome 4

ClinVar genetic disease variations for Adams-Oliver Syndrome 4:

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EOGT NM_001278689.2(EOGT):c.620G>C (p.Trp207Ser) SNV Pathogenic 55816 rs587776993 GRCh37: 3:69053529-69053529
GRCh38: 3:69004378-69004378
2 EOGT NM_001278689.2(EOGT):c.1074del (p.Gly359fs) Deletion Pathogenic 55817 rs587776994 GRCh37: 3:69037455-69037455
GRCh38: 3:68988304-68988304
3 EOGT NM_001278689.2(EOGT):c.1130G>A (p.Arg377Gln) SNV Pathogenic 55818 rs587776995 GRCh37: 3:69036618-69036618
GRCh38: 3:68987467-68987467
4 EOGT NM_001278689.2(EOGT):c.78_81del (p.His27fs) Deletion Pathogenic 523593 rs771160630 GRCh37: 3:69058917-69058920
GRCh38: 3:69009766-69009769
5 EOGT NM_001278689.2(EOGT):c.1335-1G>A SNV Pathogenic 523612 rs185181819 GRCh37: 3:69027587-69027587
GRCh38: 3:68978436-68978436
6 EOGT NM_001278689.2(EOGT):c.210+1G>A SNV Pathogenic 1027868 GRCh37: 3:69058787-69058787
GRCh38: 3:69009636-69009636
7 EOGT NM_001278689.2(EOGT):c.311+1G>T SNV Pathogenic 523579 rs369583084 GRCh37: 3:69057578-69057578
GRCh38: 3:69008427-69008427
8 EOGT NM_001278689.2(EOGT):c.404G>A (p.Cys135Tyr) SNV Pathogenic 523580 rs1247059195 GRCh37: 3:69056880-69056880
GRCh38: 3:69007729-69007729
9 EOGT NM_001278689.2(EOGT):c.831+2T>C SNV Likely pathogenic 567459 rs1559604548 GRCh37: 3:69047160-69047160
GRCh38: 3:68998009-68998009
10 EOGT NM_001278689.2(EOGT):c.176C>G (p.Thr59Ser) SNV Uncertain significance 639398 rs139295083 GRCh37: 3:69058822-69058822
GRCh38: 3:69009671-69009671
11 EOGT NM_001278689.2(EOGT):c.455A>T (p.Gln152Leu) SNV Uncertain significance 864595 GRCh37: 3:69054351-69054351
GRCh38: 3:69005200-69005200
12 EOGT NM_001278689.2(EOGT):c.308G>T (p.Gly103Val) SNV Uncertain significance 1035062 GRCh37: 3:69057582-69057582
GRCh38: 3:69008431-69008431
13 EOGT NM_001278689.2(EOGT):c.548T>A (p.Ile183Asn) SNV Uncertain significance 1050810 GRCh37: 3:69053601-69053601
GRCh38: 3:69004450-69004450
14 EOGT NM_001278689.2(EOGT):c.1404G>A (p.Trp468Ter) SNV Uncertain significance 1054717 GRCh37: 3:69027517-69027517
GRCh38: 3:68978366-68978366
15 EOGT NM_001278689.2(EOGT):c.1387G>A (p.Val463Ile) SNV Uncertain significance 946321 GRCh37: 3:69027534-69027534
GRCh38: 3:68978383-68978383
16 EOGT NM_001278689.2(EOGT):c.616T>A (p.Ser206Thr) SNV Uncertain significance 946322 GRCh37: 3:69053533-69053533
GRCh38: 3:69004382-69004382
17 EOGT NM_001278689.2(EOGT):c.1114C>T (p.Arg372Trp) SNV Uncertain significance 1010701 GRCh37: 3:69036634-69036634
GRCh38: 3:68987483-68987483
18 EOGT NM_001278689.2(EOGT):c.1153-3C>T SNV Uncertain significance 1021870 GRCh37: 3:69032026-69032026
GRCh38: 3:68982875-68982875
19 EOGT NM_001278689.2(EOGT):c.122G>T (p.Arg41Leu) SNV Likely benign 785636 rs116007086 GRCh37: 3:69058876-69058876
GRCh38: 3:69009725-69009725
20 EOGT NM_001278689.2(EOGT):c.1209G>A (p.Lys403=) SNV Likely benign 732232 rs981266167 GRCh37: 3:69031967-69031967
GRCh38: 3:68982816-68982816
21 EOGT NM_001278689.2(EOGT):c.1368C>T (p.Asp456=) SNV Likely benign 741034 rs750519290 GRCh37: 3:69027553-69027553
GRCh38: 3:68978402-68978402
22 EOGT NM_001278689.2(EOGT):c.816C>T (p.Ile272=) SNV Benign 770143 rs554241529 GRCh37: 3:69047177-69047177
GRCh38: 3:68998026-68998026
23 EOGT NM_001278689.2(EOGT):c.1170A>G (p.Lys390=) SNV Benign 784012 rs114914860 GRCh37: 3:69032006-69032006
GRCh38: 3:68982855-68982855
24 EOGT NM_001278689.2(EOGT):c.71C>G (p.Pro24Arg) SNV Benign 784681 rs140016031 GRCh37: 3:69058927-69058927
GRCh38: 3:69009776-69009776
25 EOGT NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter) SNV Benign 445341 rs116711473 GRCh37: 3:69053587-69053587
GRCh38: 3:69004436-69004436
26 EOGT NM_001278689.2(EOGT):c.783C>T (p.His261=) SNV Benign 376918 rs147327086 GRCh37: 3:69047210-69047210
GRCh38: 3:68998059-68998059
27 EOGT NM_001278689.2(EOGT):c.563A>T (p.Lys188Ile) SNV Benign 445295 rs116138787 GRCh37: 3:69053586-69053586
GRCh38: 3:69004435-69004435
28 EOGT NM_001278689.2(EOGT):c.1305C>T (p.Phe435=) SNV Benign 732068 rs527394057 GRCh37: 3:69028848-69028848
GRCh38: 3:68979697-68979697
29 EOGT NM_001278689.2(EOGT):c.1213A>G (p.Arg405Gly) SNV Benign 474283 rs35545453 GRCh37: 3:69031963-69031963
GRCh38: 3:68982812-68982812
30 EOGT NM_001278689.2(EOGT):c.1237C>T (p.Leu413=) SNV Benign 791245 rs115592862 GRCh37: 3:69028916-69028916
GRCh38: 3:68979765-68979765

UniProtKB/Swiss-Prot genetic disease variations for Adams-Oliver Syndrome 4:

72
# Symbol AA change Variation ID SNP ID
1 EOGT p.Trp207Ser VAR_070090 rs587776993
2 EOGT p.Arg377Gln VAR_070091 rs587776995

Expression for Adams-Oliver Syndrome 4

Search GEO for disease gene expression data for Adams-Oliver Syndrome 4.

Pathways for Adams-Oliver Syndrome 4

GO Terms for Adams-Oliver Syndrome 4

Sources for Adams-Oliver Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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