AOS5
MCID: ADM010
MIFTS: 29

Adams-Oliver Syndrome 5 (AOS5)

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 5

MalaCards integrated aliases for Adams-Oliver Syndrome 5:

Name: Adams-Oliver Syndrome 5 58 76 30 6 74
Aos5 58 76
Adams-Oliver Syndrome, Type 5 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

33
adams-oliver syndrome 5:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Adams-Oliver Syndrome 5

UniProtKB/Swiss-Prot : 76 Adams-Oliver syndrome 5: 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 5, also known as aos5, is related to adams-oliver syndrome and oliver syndrome. An important gene associated with Adams-Oliver Syndrome 5 is NOTCH1 (Notch Receptor 1). Affiliated tissues include bone, skin and brain, and related phenotypes are seizures and inguinal hernia

OMIM : 58 Adams-Oliver syndrome (AOS) 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 recurrently seen. 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). (616028)

Related Diseases for Adams-Oliver Syndrome 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 9.6 MIR4673 NOTCH1
2 oliver syndrome 9.1 MIR4673 MIR4674 NOTCH1

Symptoms & Phenotypes for Adams-Oliver Syndrome 5

Human phenotypes related to Adams-Oliver Syndrome 5:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 inguinal hernia 33 occasional (7.5%) HP:0000023
3 splenomegaly 33 occasional (7.5%) HP:0001744
4 umbilical hernia 33 occasional (7.5%) HP:0001537
5 hypersplenism 33 occasional (7.5%) HP:0001971
6 esophageal varix 33 occasional (7.5%) HP:0002040
7 aplasia cutis congenita 33 occasional (7.5%) HP:0001057
8 portal vein thrombosis 33 occasional (7.5%) HP:0030242
9 pulmonary arterial hypertension 33 HP:0002092
10 cavernous hemangioma 33 HP:0001048
11 brachydactyly 33 HP:0001156
12 pulmonic stenosis 33 HP:0001642
13 dystrophic toenail 33 HP:0001810
14 patent foramen ovale 33 HP:0001655
15 syndactyly 33 HP:0001159
16 right ventricular hypertrophy 33 HP:0001667
17 cutis marmorata telangiectatica congenita 33 HP:0025107
18 right atrial enlargement 33 HP:0030718

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
cavernous hemangioma
cutis marmorata telangiectatica congenita
strawberry nevi
macular hemangioma

Skeletal Feet:
brachydactyly
syndactyly

Abdomen External Features:
umbilical hernia (rare)
inguinal hernia (rare)

Head And Neck Head:
aplasia cutis congenita of the scalp
prominent veins of the scalp

Cardiovascular Vascular:
pulmonary artery hypertension
portal vein thrombosis (rare)

Head And Neck Neck:
aplasia cutis congenita (rare)

Skeletal Skull:
absent bone in areas of aplasia cutis congenita

Skeletal Hands:
brachydactyly

Cardiovascular Heart:
right ventricular hypertrophy
pulmonary valve stenosis
tricuspid valve incompetence
mitral valve hypoplasia
multiperforated patent foramen ovale
more
Neurologic Central Nervous System:
seizures (rare)
ischemic infarct of brain
sagittal sinus thrombosis
cortical venous thromboses
structural abnormalities of cerebellum
more
Skin Nails Hair Nails:
dystrophic toenails
hypoplastic or absent toenails

Abdomen Spleen:
splenomegaly (rare)
hypersplenism (rare)

Abdomen Gastrointestinal:
esophageal varices (rare)
hypertensive gastropathy (rare)

Clinical features from OMIM:

616028

Drugs & Therapeutics for Adams-Oliver Syndrome 5

Search Clinical Trials , NIH Clinical Center for Adams-Oliver Syndrome 5

Genetic Tests for Adams-Oliver Syndrome 5

Genetic tests related to Adams-Oliver Syndrome 5:

# Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 5 30 NOTCH1

Anatomical Context for Adams-Oliver Syndrome 5

MalaCards organs/tissues related to Adams-Oliver Syndrome 5:

42
Bone, Skin, Brain, Heart, Cerebellum, Eye

Publications for Adams-Oliver Syndrome 5

Articles related to Adams-Oliver Syndrome 5:

# Title Authors Year
1
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. ( 25963545 )
2015
2
Mutations in NOTCH1 cause Adams-Oliver syndrome. ( 25132448 )
2014
3
Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism? ( 22307742 )
2012
4
Notch/gamma-secretase inhibition turns proliferative cells in intestinal crypts and adenomas into goblet cells. ( 15959515 )
2005
5
Familial aplasia cutis congenita and coarctation of the aorta. ( 1621771 )
1992

Variations for Adams-Oliver Syndrome 5

UniProtKB/Swiss-Prot genetic disease variations for Adams-Oliver Syndrome 5:

76
# Symbol AA change Variation ID SNP ID
1 NOTCH1 p.Cys429Arg VAR_071960 rs587777736
2 NOTCH1 p.Cys1496Tyr VAR_071961 rs587781259
3 NOTCH1 p.Asp1989Asn VAR_071962 rs587777734

ClinVar genetic disease variations for Adams-Oliver Syndrome 5:

6 (show top 50) (show all 1095)
# Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH1 NM_017617.5(NOTCH1): c.1699A> G (p.Ile567Val) single nucleotide variant Uncertain significance rs369067940 GRCh37 Chromosome 9, 139410139: 139410139
2 NOTCH1 NM_017617.5(NOTCH1): c.1699A> G (p.Ile567Val) single nucleotide variant Uncertain significance rs369067940 GRCh38 Chromosome 9, 136515687: 136515687
3 NOTCH1 NM_017617.5(NOTCH1): c.1862G> A (p.Arg621His) single nucleotide variant Likely benign rs138504021 GRCh37 Chromosome 9, 139409976: 139409976
4 NOTCH1 NM_017617.5(NOTCH1): c.1862G> A (p.Arg621His) single nucleotide variant Likely benign rs138504021 GRCh38 Chromosome 9, 136515524: 136515524
5 NOTCH1 NM_017617.5(NOTCH1): c.2080G> A (p.Glu694Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs79782048 GRCh37 Chromosome 9, 139409089: 139409089
6 NOTCH1 NM_017617.5(NOTCH1): c.2080G> A (p.Glu694Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs79782048 GRCh38 Chromosome 9, 136514637: 136514637
7 NOTCH1 NM_017617.5(NOTCH1): c.2108G> A (p.Arg703His) single nucleotide variant Uncertain significance rs561126575 GRCh37 Chromosome 9, 139409061: 139409061
8 NOTCH1 NM_017617.5(NOTCH1): c.2108G> A (p.Arg703His) single nucleotide variant Uncertain significance rs561126575 GRCh38 Chromosome 9, 136514609: 136514609
9 NOTCH1 NM_017617.3(NOTCH1): c.2263_2265delAAT (p.Asn755del) deletion Uncertain significance rs587778559 GRCh37 Chromosome 9, 139407932: 139407934
10 NOTCH1 NM_017617.3(NOTCH1): c.2263_2265delAAT (p.Asn755del) deletion Uncertain significance rs587778559 GRCh38 Chromosome 9, 136513480: 136513482
11 NOTCH1 NM_017617.5(NOTCH1): c.2495C> T (p.Pro832Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs559917218 GRCh37 Chromosome 9, 139405696: 139405696
12 NOTCH1 NM_017617.5(NOTCH1): c.2495C> T (p.Pro832Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs559917218 GRCh38 Chromosome 9, 136511244: 136511244
13 NOTCH1 NM_017617.5(NOTCH1): c.2542G> A (p.Glu848Lys) single nucleotide variant Benign/Likely benign rs35136134 GRCh37 Chromosome 9, 139405649: 139405649
14 NOTCH1 NM_017617.5(NOTCH1): c.2542G> A (p.Glu848Lys) single nucleotide variant Benign/Likely benign rs35136134 GRCh38 Chromosome 9, 136511197: 136511197
15 NOTCH1 NM_017617.5(NOTCH1): c.2635C> T (p.Arg879Trp) single nucleotide variant Uncertain significance rs587778563 GRCh37 Chromosome 9, 139405210: 139405210
16 NOTCH1 NM_017617.5(NOTCH1): c.2635C> T (p.Arg879Trp) single nucleotide variant Uncertain significance rs587778563 GRCh38 Chromosome 9, 136510758: 136510758
17 NOTCH1 NM_017617.5(NOTCH1): c.2734C> T (p.Arg912Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201620358 GRCh37 Chromosome 9, 139405111: 139405111
18 NOTCH1 NM_017617.5(NOTCH1): c.2734C> T (p.Arg912Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201620358 GRCh38 Chromosome 9, 136510659: 136510659
19 NOTCH1 NM_017617.5(NOTCH1): c.64C> T (p.Pro22Ser) single nucleotide variant Benign/Likely benign rs114832250 GRCh37 Chromosome 9, 139438552: 139438552
20 NOTCH1 NM_017617.5(NOTCH1): c.64C> T (p.Pro22Ser) single nucleotide variant Benign/Likely benign rs114832250 GRCh38 Chromosome 9, 136544100: 136544100
21 NOTCH1 NM_017617.5(NOTCH1): c.3401A> G (p.Gln1134Arg) single nucleotide variant Benign rs374230681 GRCh37 Chromosome 9, 139402516: 139402516
22 NOTCH1 NM_017617.5(NOTCH1): c.3401A> G (p.Gln1134Arg) single nucleotide variant Benign rs374230681 GRCh38 Chromosome 9, 136508064: 136508064
23 NOTCH1 NM_017617.5(NOTCH1): c.3598G> A (p.Asp1200Asn) single nucleotide variant Uncertain significance rs544640305 GRCh37 Chromosome 9, 139401802: 139401802
24 NOTCH1 NM_017617.5(NOTCH1): c.3598G> A (p.Asp1200Asn) single nucleotide variant Uncertain significance rs544640305 GRCh38 Chromosome 9, 136507350: 136507350
25 NOTCH1 NM_017617.5(NOTCH1): c.3767C> T (p.Pro1256Leu) single nucleotide variant Benign rs80340744 GRCh37 Chromosome 9, 139401302: 139401302
26 NOTCH1 NM_017617.5(NOTCH1): c.3767C> T (p.Pro1256Leu) single nucleotide variant Benign rs80340744 GRCh38 Chromosome 9, 136506850: 136506850
27 NOTCH1 NM_017617.5(NOTCH1): c.3836G> A (p.Arg1279His) single nucleotide variant Benign rs61751543 GRCh37 Chromosome 9, 139401233: 139401233
28 NOTCH1 NM_017617.5(NOTCH1): c.3836G> A (p.Arg1279His) single nucleotide variant Benign rs61751543 GRCh38 Chromosome 9, 136506781: 136506781
29 NOTCH1 NM_017617.5(NOTCH1): c.4014G> A (p.Ala1338=) single nucleotide variant Conflicting interpretations of pathogenicity rs377217445 GRCh37 Chromosome 9, 139400979: 139400979
30 NOTCH1 NM_017617.5(NOTCH1): c.4014G> A (p.Ala1338=) single nucleotide variant Conflicting interpretations of pathogenicity rs377217445 GRCh38 Chromosome 9, 136506527: 136506527
31 NOTCH1 NM_017617.5(NOTCH1): c.4028C> T (p.Ala1343Val) single nucleotide variant Likely benign rs183156491 GRCh37 Chromosome 9, 139400320: 139400320
32 NOTCH1 NM_017617.5(NOTCH1): c.4028C> T (p.Ala1343Val) single nucleotide variant Likely benign rs183156491 GRCh38 Chromosome 9, 136505868: 136505868
33 NOTCH1 NM_017617.5(NOTCH1): c.4129C> T (p.Pro1377Ser) single nucleotide variant Benign rs61751542 GRCh37 Chromosome 9, 139400219: 139400219
34 NOTCH1 NM_017617.5(NOTCH1): c.4129C> T (p.Pro1377Ser) single nucleotide variant Benign rs61751542 GRCh38 Chromosome 9, 136505767: 136505767
35 NOTCH1 NM_017617.5(NOTCH1): c.4168C> A (p.Pro1390Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs191645600 GRCh37 Chromosome 9, 139400180: 139400180
36 NOTCH1 NM_017617.5(NOTCH1): c.4168C> A (p.Pro1390Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs191645600 GRCh38 Chromosome 9, 136505728: 136505728
37 NOTCH1 NM_017617.5(NOTCH1): c.4049G> T (p.Arg1350Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs150343794 GRCh38 Chromosome 9, 136505847: 136505847
38 NOTCH1 NM_017617.5(NOTCH1): c.4049G> T (p.Arg1350Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs150343794 GRCh37 Chromosome 9, 139400299: 139400299
39 NOTCH1 NM_017617.5(NOTCH1): c.4222G> A (p.Glu1408Lys) single nucleotide variant Uncertain significance rs587778569 GRCh38 Chromosome 9, 136505674: 136505674
40 NOTCH1 NM_017617.5(NOTCH1): c.4222G> A (p.Glu1408Lys) single nucleotide variant Uncertain significance rs587778569 GRCh37 Chromosome 9, 139400126: 139400126
41 NOTCH1 NM_017617.5(NOTCH1): c.4823G> A (p.Arg1608His) single nucleotide variant Benign rs76371972 GRCh38 Chromosome 9, 136504868: 136504868
42 NOTCH1 NM_017617.5(NOTCH1): c.4823G> A (p.Arg1608His) single nucleotide variant Benign rs76371972 GRCh37 Chromosome 9, 139399320: 139399320
43 NOTCH1 NM_017617.5(NOTCH1): c.5011G> A (p.Val1671Ile) single nucleotide variant Benign/Likely benign rs2229968 GRCh38 Chromosome 9, 136504680: 136504680
44 NOTCH1 NM_017617.5(NOTCH1): c.5011G> A (p.Val1671Ile) single nucleotide variant Benign/Likely benign rs2229968 GRCh37 Chromosome 9, 139399132: 139399132
45 NOTCH1 NM_017617.5(NOTCH1): c.311A> G (p.Asn104Ser) single nucleotide variant Likely benign rs199654211 GRCh38 Chromosome 9, 136523809: 136523809
46 NOTCH1 NM_017617.5(NOTCH1): c.311A> G (p.Asn104Ser) single nucleotide variant Likely benign rs199654211 GRCh37 Chromosome 9, 139418261: 139418261
47 NOTCH1 NM_017617.5(NOTCH1): c.368C> T (p.Thr123Met) single nucleotide variant Benign/Likely benign rs187473846 GRCh38 Chromosome 9, 136523752: 136523752
48 NOTCH1 NM_017617.5(NOTCH1): c.368C> T (p.Thr123Met) single nucleotide variant Benign/Likely benign rs187473846 GRCh37 Chromosome 9, 139418204: 139418204
49 NOTCH1 NM_017617.5(NOTCH1): c.7648A> G (p.Ile2550Val) single nucleotide variant Likely benign rs188270459 GRCh38 Chromosome 9, 136496091: 136496091
50 NOTCH1 NM_017617.5(NOTCH1): c.7648A> G (p.Ile2550Val) single nucleotide variant Likely benign rs188270459 GRCh37 Chromosome 9, 139390543: 139390543

Expression for Adams-Oliver Syndrome 5

Search GEO for disease gene expression data for Adams-Oliver Syndrome 5.

Pathways for Adams-Oliver Syndrome 5

GO Terms for Adams-Oliver Syndrome 5

Sources for Adams-Oliver Syndrome 5

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