MCID: ADM009
MIFTS: 25

Adams-Oliver Syndrome 4

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Adams-Oliver Syndrome 4

MalaCards integrated aliases for Adams-Oliver Syndrome 4:

Name: Adams-Oliver Syndrome 4 54 24 71 29 69
Aos4 24 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

32
adams-oliver syndrome 4:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Adams-Oliver Syndrome 4

UniProtKB/Swiss-Prot : 71 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 pontocerebellar hypoplasia type 2d and mental retardation with language impairment and with or without autistic features, and has symptoms including umbilical hernia, atrial septal defect and patent ductus arteriosus. An important gene associated with Adams-Oliver Syndrome 4 is EOGT (EGF Domain Specific O-Linked N-Acetylglucosamine Transferase). Affiliated tissues include brain, bone and heart.

OMIM : 54
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

Graphical network of the top 20 diseases related to Adams-Oliver Syndrome 4:



Diseases related to Adams-Oliver Syndrome 4

Symptoms & Phenotypes for Adams-Oliver Syndrome 4

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Nails:
hypoplastic toenails
dysplastic toenails
aplastic toenails

Head And Neck- Head:
cutis aplasia of scalp

Abdomen- External Features:
umbilical hernia (in some patients)

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)

Cardiovascular- Vascular:
patent ductus arteriosus (rare)

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

Human phenotypes related to Adams-Oliver Syndrome 4:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 umbilical hernia 32 occasional (7.5%) HP:0001537
2 atrial septal defect 32 occasional (7.5%) HP:0001631
3 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
4 hypoplastic toenails 32 HP:0001800
5 cutis marmorata 32 occasional (7.5%) HP:0000965
6 ventricular septal defect 32 occasional (7.5%) HP:0001629
7 short toe 32 occasional (7.5%) HP:0001831
8 toenail dysplasia 32 HP:0100797

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:

id Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 4 29 24 RBPJ

Anatomical Context for Adams-Oliver Syndrome 4

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

39
Brain, Bone, Heart, Skin, 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:

71
id 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
id 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.1074delA (p.Gly359Aspfs) deletion Pathogenic/Likely pathogenic rs587776994 GRCh37 Chromosome 3, 69037455: 69037455
3 EOGT NM_001278689.1(EOGT): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic rs587776995 GRCh37 Chromosome 3, 69036618: 69036618

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
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
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