MCID: ADM012
MIFTS: 22

Adams-Oliver Syndrome 6

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

Aliases & Classifications for Adams-Oliver Syndrome 6

MalaCards integrated aliases for Adams-Oliver Syndrome 6:

Name: Adams-Oliver Syndrome 6 53 71 28
Aos6 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
marked intrafamilial variability of clinical features
incomplete penetrance in some families


HPO:

31
adams-oliver syndrome 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Adams-Oliver Syndrome 6

UniProtKB/Swiss-Prot : 71 Adams-Oliver syndrome 6: 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 6, is also known as aos6, and has symptoms including portal hypertension, hypoplastic toenails and hepatic fibrosis. An important gene associated with Adams-Oliver Syndrome 6 is DLL4 (Delta Like Canonical Notch Ligand 4). Affiliated tissues include skin, brain and bone.

OMIM : 53 Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014). For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300). (616589)

Related Diseases for Adams-Oliver Syndrome 6

Symptoms & Phenotypes for Adams-Oliver Syndrome 6

Symptoms via clinical synopsis from OMIM:

53
Skeletal Hands:
brachydactyly
symphalangism

Cardiovascular Heart:
ventricular septal defect
tricuspid insufficiency

Abdomen Liver:
hepatic fibrosis (rare)
portal hypertension (rare)

Abdomen Gastroin testinal:
esophageal varices (rare)

Abdomen Spleen:
congenital splenomegaly (rare)

Skeletal Skull:
skull defect (underlying aplasia cutis congenita)

Skeletal Feet:
brachydactyly
syndactyly
missing toes
brachysyndactyly
symbrachydactyly

Cardiovascular Vascular:
truncus arteriosus

Skin Nails Hair Skin:
cutis marmorata (in some patients)
scalp defect (aplasia cutis congenita)
bald area on scalp (in some patients)

Head And Neck Head:
aplasia congenita cutis of the scalp vertex

Genitourinary Kidneys:
small kidneys (rare)

Skin Nails Hair Nails:
hypoplastic toenails (in some patients)


Clinical features from OMIM:

616589

Human phenotypes related to Adams-Oliver Syndrome 6:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 portal hypertension 31 occasional (7.5%) HP:0001409
2 hypoplastic toenails 31 occasional (7.5%) HP:0001800
3 hepatic fibrosis 31 occasional (7.5%) HP:0001395
4 brachydactyly 31 HP:0001156
5 renal hypoplasia 31 occasional (7.5%) HP:0000089
6 ventricular septal defect 31 HP:0001629
7 truncus arteriosus 31 HP:0001660
8 esophageal varix 31 occasional (7.5%) HP:0002040
9 cutis marmorata 31 occasional (7.5%) HP:0000965
10 tricuspid regurgitation 31 HP:0005180
11 syndactyly 31 HP:0001159
12 foot oligodactyly 31 HP:0001849
13 aplasia cutis congenita of scalp 31 HP:0007385
14 calvarial skull defect 31 HP:0001362

Drugs & Therapeutics for Adams-Oliver Syndrome 6

Search Clinical Trials , NIH Clinical Center for Adams-Oliver Syndrome 6

Genetic Tests for Adams-Oliver Syndrome 6

Genetic tests related to Adams-Oliver Syndrome 6:

# Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 6 28 DLL4

Anatomical Context for Adams-Oliver Syndrome 6

MalaCards organs/tissues related to Adams-Oliver Syndrome 6:

38
Skin, Brain, Bone, Heart, Kidney

Publications for Adams-Oliver Syndrome 6

Variations for Adams-Oliver Syndrome 6

UniProtKB/Swiss-Prot genetic disease variations for Adams-Oliver Syndrome 6:

71
# Symbol AA change Variation ID SNP ID
1 DLL4 p.Ala121Pro VAR_075858 rs796065350
2 DLL4 p.Arg186Cys VAR_075859 rs796065348
3 DLL4 p.Phe195Leu VAR_075860 rs796065351
4 DLL4 p.Pro267Thr VAR_075861 rs796065349
5 DLL4 p.Cys390Arg VAR_075862 rs796065347
6 DLL4 p.Cys390Tyr VAR_075863 rs796065346
7 DLL4 p.Cys455Trp VAR_075864 rs796065345

ClinVar genetic disease variations for Adams-Oliver Syndrome 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DLL4 NM_019074.3(DLL4): c.361G> C (p.Ala121Pro) single nucleotide variant Pathogenic rs796065350 GRCh38 Chromosome 15, 40930649: 40930649
2 DLL4 NM_019074.3(DLL4): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs796065348 GRCh38 Chromosome 15, 40931664: 40931664
3 DLL4 NM_019074.3(DLL4): c.1168T> C (p.Cys390Arg) single nucleotide variant Pathogenic rs796065347 GRCh38 Chromosome 15, 40935045: 40935045
4 DLL4 NM_019074.3(DLL4): c.1169G> A (p.Cys390Tyr) single nucleotide variant Pathogenic rs796065346 GRCh38 Chromosome 15, 40935046: 40935046
5 DLL4 NM_019074.3(DLL4): c.1660C> T (p.Gln554Ter) single nucleotide variant Pathogenic rs796065344 GRCh38 Chromosome 15, 40936647: 40936647
6 DLL4 NM_019074.3(DLL4): c.1672C> T (p.Arg558Ter) single nucleotide variant Pathogenic rs61750844 GRCh38 Chromosome 15, 40936659: 40936659

Expression for Adams-Oliver Syndrome 6

Search GEO for disease gene expression data for Adams-Oliver Syndrome 6.

Pathways for Adams-Oliver Syndrome 6

GO Terms for Adams-Oliver Syndrome 6

Sources for Adams-Oliver Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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