AOS4
MCID: ADM009
MIFTS: 22

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 58 76 30 6 74
Aos4 58 76
Adams-Oliver Syndrome, Type 4 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

33
adams-oliver syndrome 4:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Adams-Oliver Syndrome 4

UniProtKB/Swiss-Prot : 76 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, is also known as aos4. An important gene associated with Adams-Oliver Syndrome 4 is EOGT (EGF Domain Specific O-Linked N-Acetylglucosamine Transferase). Affiliated tissues include brain, skin and bone, and related phenotypes are umbilical hernia and patent ductus arteriosus

OMIM : 58 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 (AOS), see AOS1 (100300). (615297)

Related Diseases for Adams-Oliver Syndrome 4

Symptoms & Phenotypes for Adams-Oliver Syndrome 4

Human phenotypes related to Adams-Oliver Syndrome 4:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 umbilical hernia 33 occasional (7.5%) HP:0001537
2 patent ductus arteriosus 33 occasional (7.5%) HP:0001643
3 atrial septal defect 33 occasional (7.5%) HP:0001631
4 short toe 33 occasional (7.5%) HP:0001831
5 ventricular septal defect 33 occasional (7.5%) HP:0001629
6 cutis marmorata 33 occasional (7.5%) HP:0000965
7 hypoplastic toenails 33 HP:0001800
8 toenail dysplasia 33 HP:0100797

Symptoms via clinical synopsis from OMIM:

58
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:
atrial septal defect (rare)
ventricular 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

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 30 EOGT

Anatomical Context for Adams-Oliver Syndrome 4

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

42
Brain, Skin, Bone, Heart, Eye, Temporal Lobe, Occipital Lobe

Publications for Adams-Oliver Syndrome 4

Variations for Adams-Oliver Syndrome 4

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

76
# Symbol AA change Variation ID SNP ID
1 EOGT p.Trp207Ser VAR_070090 rs587776993
2 EOGT p.Arg377Gln VAR_070091 rs587776995

ClinVar genetic disease variations for Adams-Oliver Syndrome 4:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 EOGT NM_001278689.1(EOGT): c.620G> C (p.Trp207Ser) single nucleotide variant Pathogenic rs587776993 GRCh37 Chromosome 3, 69053529: 69053529
2 EOGT NM_001278689.1(EOGT): c.620G> C (p.Trp207Ser) single nucleotide variant Pathogenic rs587776993 GRCh38 Chromosome 3, 69004378: 69004378
3 EOGT NM_001278689.1(EOGT): c.1074delA (p.Gly359Aspfs) deletion Pathogenic/Likely pathogenic rs587776994 GRCh37 Chromosome 3, 69037455: 69037455
4 EOGT NM_001278689.1(EOGT): c.1074delA (p.Gly359Aspfs) deletion Pathogenic/Likely pathogenic rs587776994 GRCh38 Chromosome 3, 68988304: 68988304
5 EOGT NM_001278689.1(EOGT): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic rs587776995 GRCh37 Chromosome 3, 69036618: 69036618
6 EOGT NM_001278689.1(EOGT): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic rs587776995 GRCh38 Chromosome 3, 68987467: 68987467
7 EOGT NM_173654.2(EOGT): c.961A> G (p.Arg321Gly) single nucleotide variant Benign rs35545453 GRCh38 Chromosome 3, 68982812: 68982812
8 EOGT NM_173654.2(EOGT): c.961A> G (p.Arg321Gly) single nucleotide variant Benign rs35545453 GRCh37 Chromosome 3, 69031963: 69031963
9 EOGT NM_001278689.1(EOGT): c.1335-1G> A single nucleotide variant Pathogenic rs185181819 GRCh38 Chromosome 3, 68978436: 68978436
10 EOGT NM_001278689.1(EOGT): c.1335-1G> A single nucleotide variant Pathogenic rs185181819 GRCh37 Chromosome 3, 69027587: 69027587
11 EOGT NM_001278689.1(EOGT): c.404G> A (p.Cys135Tyr) single nucleotide variant Pathogenic rs1247059195 GRCh38 Chromosome 3, 69007729: 69007729
12 EOGT NM_001278689.1(EOGT): c.404G> A (p.Cys135Tyr) single nucleotide variant Pathogenic rs1247059195 GRCh37 Chromosome 3, 69056880: 69056880
13 EOGT NM_001278689.1(EOGT): c.311+1G> T single nucleotide variant Pathogenic rs369583084 GRCh37 Chromosome 3, 69057578: 69057578
14 EOGT NM_001278689.1(EOGT): c.311+1G> T single nucleotide variant Pathogenic rs369583084 GRCh38 Chromosome 3, 69008427: 69008427
15 EOGT NM_001278689.1(EOGT): c.78_81delTCAC (p.His27Alafs) deletion Pathogenic rs771160630 GRCh37 Chromosome 3, 69058917: 69058920
16 EOGT NM_001278689.1(EOGT): c.78_81delTCAC (p.His27Alafs) deletion Pathogenic rs771160630 GRCh38 Chromosome 3, 69009766: 69009769
17 EOGT NM_173654.2(EOGT): c.831+2T> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 69047160: 69047160
18 EOGT NM_173654.2(EOGT): c.831+2T> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 68998009: 68998009

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

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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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75 UMLS via Orphanet
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