AOS5
MCID: ADM010
MIFTS: 26

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:
Onset and clinical course phenotypic variability
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 brain, bone and skin, 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 syndactyly 33 HP:0001159
15 patent foramen ovale 33 HP:0001655
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
Brain, Bone, Skin, Heart, Cerebellum

Publications for Adams-Oliver Syndrome 5

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 1085)
# Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH1 NC_000009.12: g.136545168_136630028del84861 deletion Pathogenic GRCh37 Chromosome 9, 139439620: 139524480
2 NOTCH1 NC_000009.12: g.136545168_136630028del84861 deletion Pathogenic GRCh38 Chromosome 9, 136545168: 136630028
3 NOTCH1 NM_017617.5(NOTCH1): c.4971C> G (p.Ser1657Arg) single nucleotide variant Uncertain significance rs367838230 GRCh37 Chromosome 9, 139399172: 139399172
4 NOTCH1 NM_017617.5(NOTCH1): c.4971C> G (p.Ser1657Arg) single nucleotide variant Uncertain significance rs367838230 GRCh38 Chromosome 9, 136504720: 136504720
5 NOTCH1 NM_017617.5(NOTCH1): c.2769A> G (p.Thr923=) single nucleotide variant Benign rs201985795 GRCh37 Chromosome 9, 139404385: 139404385
6 NOTCH1 NM_017617.5(NOTCH1): c.2769A> G (p.Thr923=) single nucleotide variant Benign rs201985795 GRCh38 Chromosome 9, 136509933: 136509933
7 NOTCH1 NM_017617.5(NOTCH1): c.5168-10G> A single nucleotide variant Benign rs199903655 GRCh37 Chromosome 9, 139396950: 139396950
8 NOTCH1 NM_017617.5(NOTCH1): c.5168-10G> A single nucleotide variant Benign rs199903655 GRCh38 Chromosome 9, 136502498: 136502498
9 NOTCH1 NM_017617.5(NOTCH1): c.6777T> C (p.Gly2259=) single nucleotide variant Benign rs61751490 GRCh37 Chromosome 9, 139391414: 139391414
10 NOTCH1 NM_017617.5(NOTCH1): c.6777T> C (p.Gly2259=) single nucleotide variant Benign rs61751490 GRCh38 Chromosome 9, 136496962: 136496962
11 NOTCH1 NM_017617.5(NOTCH1): c.711C> T (p.Gly237=) single nucleotide variant Benign rs61751557 GRCh37 Chromosome 9, 139417333: 139417333
12 NOTCH1 NM_017617.5(NOTCH1): c.711C> T (p.Gly237=) single nucleotide variant Benign rs61751557 GRCh38 Chromosome 9, 136522881: 136522881
13 NOTCH1 NM_017617.5(NOTCH1): c.1100-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs545088400 GRCh37 Chromosome 9, 139412752: 139412752
14 NOTCH1 NM_017617.5(NOTCH1): c.1100-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs545088400 GRCh38 Chromosome 9, 136518300: 136518300
15 NOTCH1 NM_017617.4(NOTCH1): c.6049_6050delTC (p.Ser2017Thrfs) deletion Pathogenic rs864622063 GRCh37 Chromosome 9, 139393596: 139393597
16 NOTCH1 NM_017617.4(NOTCH1): c.6049_6050delTC (p.Ser2017Thrfs) deletion Pathogenic rs864622063 GRCh38 Chromosome 9, 136499144: 136499145
17 NOTCH1 NM_017617.5(NOTCH1): c.5218G> T (p.Ala1740Ser) single nucleotide variant Uncertain significance rs864622062 GRCh38 Chromosome 9, 136502438: 136502438
18 NOTCH1 NM_017617.5(NOTCH1): c.5218G> T (p.Ala1740Ser) single nucleotide variant Uncertain significance rs864622062 GRCh37 Chromosome 9, 139396890: 139396890
19 NOTCH1 NM_017617.5(NOTCH1): c.4739dup (p.Met1580Ilefs) duplication Pathogenic rs864622061 GRCh38 Chromosome 9, 136504952: 136504952
20 NOTCH1 NM_017617.5(NOTCH1): c.4739dup (p.Met1580Ilefs) duplication Pathogenic rs864622061 GRCh37 Chromosome 9, 139399404: 139399404
21 NOTCH1 NM_017617.5(NOTCH1): c.4663G> T (p.Glu1555Ter) single nucleotide variant Pathogenic rs746342893 GRCh37 Chromosome 9, 139399480: 139399480
22 NOTCH1 NM_017617.5(NOTCH1): c.4663G> T (p.Glu1555Ter) single nucleotide variant Pathogenic rs746342893 GRCh38 Chromosome 9, 136505028: 136505028
23 NOTCH1 NM_017617.5(NOTCH1): c.4120T> C (p.Cys1374Arg) single nucleotide variant Likely pathogenic rs864622060 GRCh38 Chromosome 9, 136505776: 136505776
24 NOTCH1 NM_017617.5(NOTCH1): c.4120T> C (p.Cys1374Arg) single nucleotide variant Likely pathogenic rs864622060 GRCh37 Chromosome 9, 139400228: 139400228
25 NOTCH1 NM_017617.5(NOTCH1): c.1649dup (p.Tyr550Terfs) duplication Pathogenic rs864622059 GRCh38 Chromosome 9, 136516001: 136516001
26 NOTCH1 NM_017617.5(NOTCH1): c.1649dup (p.Tyr550Terfs) duplication Pathogenic rs864622059 GRCh37 Chromosome 9, 139410453: 139410453
27 NOTCH1 NM_017617.5(NOTCH1): c.1367G> A (p.Cys456Tyr) single nucleotide variant Likely pathogenic rs864622058 GRCh37 Chromosome 9, 139412278: 139412278
28 NOTCH1 NM_017617.5(NOTCH1): c.1367G> A (p.Cys456Tyr) single nucleotide variant Likely pathogenic rs864622058 GRCh38 Chromosome 9, 136517826: 136517826
29 NOTCH1 NM_017617.5(NOTCH1): c.1345T> C (p.Cys449Arg) single nucleotide variant Likely pathogenic rs864622057 GRCh38 Chromosome 9, 136517848: 136517848
30 NOTCH1 NM_017617.5(NOTCH1): c.1345T> C (p.Cys449Arg) single nucleotide variant Likely pathogenic rs864622057 GRCh37 Chromosome 9, 139412300: 139412300
31 NOTCH1 NM_017617.5(NOTCH1): c.1343G> A (p.Arg448Gln) single nucleotide variant Pathogenic rs864622056 GRCh37 Chromosome 9, 139412302: 139412302
32 NOTCH1 NM_017617.5(NOTCH1): c.1343G> A (p.Arg448Gln) single nucleotide variant Pathogenic rs864622056 GRCh38 Chromosome 9, 136517850: 136517850
33 NOTCH1 NM_017617.5(NOTCH1): c.1220C> G (p.Pro407Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs754529382 GRCh38 Chromosome 9, 136518172: 136518172
34 NOTCH1 NM_017617.5(NOTCH1): c.1220C> G (p.Pro407Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs754529382 GRCh37 Chromosome 9, 139412624: 139412624
35 NOTCH1 NM_017617.5(NOTCH1): c.5175C> T (p.Thr1725=) single nucleotide variant Benign/Likely benign rs61751536 GRCh38 Chromosome 9, 136502481: 136502481
36 NOTCH1 NM_017617.5(NOTCH1): c.5175C> T (p.Thr1725=) single nucleotide variant Benign/Likely benign rs61751536 GRCh37 Chromosome 9, 139396933: 139396933
37 NOTCH1 NM_017617.5(NOTCH1): c.4536C> T (p.Ala1512=) single nucleotide variant Benign rs61751540 GRCh38 Chromosome 9, 136505360: 136505360
38 NOTCH1 NM_017617.5(NOTCH1): c.4536C> T (p.Ala1512=) single nucleotide variant Benign rs61751540 GRCh37 Chromosome 9, 139399812: 139399812
39 NOTCH1 NM_017617.5(NOTCH1): c.4067G> A (p.Arg1356His) single nucleotide variant Uncertain significance rs864622727 GRCh38 Chromosome 9, 136505829: 136505829
40 NOTCH1 NM_017617.5(NOTCH1): c.4067G> A (p.Arg1356His) single nucleotide variant Uncertain significance rs864622727 GRCh37 Chromosome 9, 139400281: 139400281
41 NOTCH1 NM_017617.5(NOTCH1): c.3315G> T (p.Ala1105=) single nucleotide variant Benign rs3812602 GRCh38 Chromosome 9, 136508242: 136508242
42 NOTCH1 NM_017617.5(NOTCH1): c.3315G> T (p.Ala1105=) single nucleotide variant Benign rs3812602 GRCh37 Chromosome 9, 139402694: 139402694
43 NOTCH1 NM_017617.5(NOTCH1): c.3294C> T (p.Ser1098=) single nucleotide variant Benign/Likely benign rs61751546 GRCh37 Chromosome 9, 139402715: 139402715
44 NOTCH1 NM_017617.5(NOTCH1): c.3294C> T (p.Ser1098=) single nucleotide variant Benign/Likely benign rs61751546 GRCh38 Chromosome 9, 136508263: 136508263
45 NOTCH1 NM_017617.5(NOTCH1): c.3171+9G> A single nucleotide variant Likely benign rs377541723 GRCh38 Chromosome 9, 136508861: 136508861
46 NOTCH1 NM_017617.5(NOTCH1): c.3171+9G> A single nucleotide variant Likely benign rs377541723 GRCh37 Chromosome 9, 139403313: 139403313
47 NOTCH1 NM_017617.5(NOTCH1): c.2691C> T (p.Ala897=) single nucleotide variant Benign rs11574895 GRCh38 Chromosome 9, 136510702: 136510702
48 NOTCH1 NM_017617.5(NOTCH1): c.2691C> T (p.Ala897=) single nucleotide variant Benign rs11574895 GRCh37 Chromosome 9, 139405154: 139405154
49 NOTCH1 NM_017617.5(NOTCH1): c.2664C> T (p.His888=) single nucleotide variant Benign rs61751548 GRCh38 Chromosome 9, 136510729: 136510729
50 NOTCH1 NM_017617.5(NOTCH1): c.2664C> T (p.His888=) single nucleotide variant Benign rs61751548 GRCh37 Chromosome 9, 139405181: 139405181

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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