AOS6
MCID: ADM012
MIFTS: 22

Adams-Oliver Syndrome 6 (AOS6)

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 6

MalaCards integrated aliases for Adams-Oliver Syndrome 6:

Name: Adams-Oliver Syndrome 6 58 76 30 6
Aos6 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
adams-oliver syndrome 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Adams-Oliver Syndrome 6

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Adams-Oliver Syndrome 6 is DLL4 (Delta Like Canonical Notch Ligand 4). Affiliated tissues include skin, brain and bone, and related phenotypes are portal hypertension and hypoplastic toenails

OMIM : 58 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

Human phenotypes related to Adams-Oliver Syndrome 6:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 portal hypertension 33 occasional (7.5%) HP:0001409
2 hypoplastic toenails 33 occasional (7.5%) HP:0001800
3 hepatic fibrosis 33 occasional (7.5%) HP:0001395
4 renal hypoplasia 33 occasional (7.5%) HP:0000089
5 esophageal varix 33 occasional (7.5%) HP:0002040
6 cutis marmorata 33 occasional (7.5%) HP:0000965
7 brachydactyly 33 HP:0001156
8 ventricular septal defect 33 HP:0001629
9 truncus arteriosus 33 HP:0001660
10 tricuspid regurgitation 33 HP:0005180
11 syndactyly 33 HP:0001159
12 foot oligodactyly 33 HP:0001849
13 aplasia cutis congenita of scalp 33 HP:0007385
14 calvarial skull defect 33 HP:0001362

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
brachydactyly
symphalangism

Cardiovascular Heart:
ventricular septal defect
tricuspid insufficiency

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

Abdomen Gastrointestinal:
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

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 30 DLL4

Anatomical Context for Adams-Oliver Syndrome 6

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

42
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:

76
# 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 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 DLL4 NM_019074.4(DLL4): c.361G> C (p.Ala121Pro) single nucleotide variant Pathogenic rs796065350 GRCh38 Chromosome 15, 40930649: 40930649
2 DLL4 NM_019074.4(DLL4): c.361G> C (p.Ala121Pro) single nucleotide variant Pathogenic rs796065350 GRCh37 Chromosome 15, 41222847: 41222847
3 DLL4 NM_019074.4(DLL4): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs796065348 GRCh38 Chromosome 15, 40931664: 40931664
4 DLL4 NM_019074.4(DLL4): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs796065348 GRCh37 Chromosome 15, 41223862: 41223862
5 DLL4 NM_019074.4(DLL4): c.799C> A (p.Pro267Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs796065349 GRCh38 Chromosome 15, 40932396: 40932396
6 DLL4 NM_019074.4(DLL4): c.799C> A (p.Pro267Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs796065349 GRCh37 Chromosome 15, 41224594: 41224594
7 DLL4 NM_019074.4(DLL4): c.1168T> C (p.Cys390Arg) single nucleotide variant Pathogenic rs796065347 GRCh38 Chromosome 15, 40935045: 40935045
8 DLL4 NM_019074.4(DLL4): c.1168T> C (p.Cys390Arg) single nucleotide variant Pathogenic rs796065347 GRCh37 Chromosome 15, 41227243: 41227243
9 DLL4 NM_019074.4(DLL4): c.1169G> A (p.Cys390Tyr) single nucleotide variant Pathogenic rs796065346 GRCh38 Chromosome 15, 40935046: 40935046
10 DLL4 NM_019074.4(DLL4): c.1169G> A (p.Cys390Tyr) single nucleotide variant Pathogenic rs796065346 GRCh37 Chromosome 15, 41227244: 41227244
11 DLL4 NM_019074.4(DLL4): c.1660C> T (p.Gln554Ter) single nucleotide variant Pathogenic rs796065344 GRCh38 Chromosome 15, 40936647: 40936647
12 DLL4 NM_019074.4(DLL4): c.1660C> T (p.Gln554Ter) single nucleotide variant Pathogenic rs796065344 GRCh37 Chromosome 15, 41228845: 41228845
13 DLL4 NM_019074.4(DLL4): c.1672C> T (p.Arg558Ter) single nucleotide variant Pathogenic rs61750844 GRCh38 Chromosome 15, 40936659: 40936659
14 DLL4 NM_019074.4(DLL4): c.1672C> T (p.Arg558Ter) single nucleotide variant Pathogenic rs61750844 GRCh37 Chromosome 15, 41228857: 41228857
15 DLL4 NM_019074.4(DLL4): c.264_266del (p.Phe89del) deletion Uncertain significance rs1555392837 GRCh38 Chromosome 15, 40930044: 40930046
16 DLL4 NM_019074.4(DLL4): c.264_266del (p.Phe89del) deletion Uncertain significance rs1555392837 GRCh37 Chromosome 15, 41222242: 41222244
17 DLL4 NM_019074.4(DLL4): c.949A> C (p.Thr317Pro) single nucleotide variant Likely pathogenic rs1555393027 GRCh38 Chromosome 15, 40934646: 40934646
18 DLL4 NM_019074.4(DLL4): c.949A> C (p.Thr317Pro) single nucleotide variant Likely pathogenic rs1555393027 GRCh37 Chromosome 15, 41226844: 41226844
19 DLL4 NM_019074.4(DLL4): c.1240+5G> C single nucleotide variant Uncertain significance rs1555393082 GRCh38 Chromosome 15, 40935122: 40935122
20 DLL4 NM_019074.4(DLL4): c.1240+5G> C single nucleotide variant Uncertain significance rs1555393082 GRCh37 Chromosome 15, 41227320: 41227320
21 DLL4 NM_019074.4(DLL4): c.1310G> C (p.Cys437Ser) single nucleotide variant Pathogenic rs1555393125 GRCh38 Chromosome 15, 40936297: 40936297
22 DLL4 NM_019074.4(DLL4): c.1310G> C (p.Cys437Ser) single nucleotide variant Pathogenic rs1555393125 GRCh37 Chromosome 15, 41228495: 41228495
23 DLL4 NM_019074.4(DLL4): c.1397G> A (p.Cys466Tyr) single nucleotide variant Pathogenic rs1247027543 GRCh37 Chromosome 15, 41228582: 41228582
24 DLL4 NM_019074.4(DLL4): c.1397G> A (p.Cys466Tyr) single nucleotide variant Pathogenic rs1247027543 GRCh38 Chromosome 15, 40936384: 40936384
25 DLL4 NM_019074.4(DLL4): c.1825C> T (p.Gln609Ter) single nucleotide variant Pathogenic rs1555393182 GRCh38 Chromosome 15, 40936812: 40936812
26 DLL4 NM_019074.4(DLL4): c.1825C> T (p.Gln609Ter) single nucleotide variant Pathogenic rs1555393182 GRCh37 Chromosome 15, 41229010: 41229010

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

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