MCID: ADM010
MIFTS: 24

Adams-Oliver Syndrome 5

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

Aliases & Classifications for Adams-Oliver Syndrome 5

MalaCards integrated aliases for Adams-Oliver Syndrome 5:

Name: Adams-Oliver Syndrome 5 54 24 71 29 69
Aos5 24 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

32
adams-oliver syndrome 5:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Adams-Oliver Syndrome 5

UniProtKB/Swiss-Prot : 71 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, is also known as aos5, and has symptoms including brachydactyly, umbilical hernia and splenomegaly. An important gene associated with Adams-Oliver Syndrome 5 is NOTCH1 (Notch 1). Affiliated tissues include bone, brain and heart.

OMIM : 54
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

Symptoms & Phenotypes for Adams-Oliver Syndrome 5

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Feet:
brachydactyly
syndactyly

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

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

Abdomen- Spleen:
splenomegaly (rare)
hypersplenism (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
Abdomen- External Features:
umbilical hernia (rare)
inguinal hernia (rare)

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

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

Abdomen- Gastroin testinal:
esophageal varices (rare)
hypertensive gastropathy (rare)


Clinical features from OMIM:

616028

Human phenotypes related to Adams-Oliver Syndrome 5:

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 brachydactyly 32 HP:0001156
2 umbilical hernia 32 occasional (7.5%) HP:0001537
3 splenomegaly 32 occasional (7.5%) HP:0001744
4 seizures 32 occasional (7.5%) HP:0001250
5 inguinal hernia 32 occasional (7.5%) HP:0000023
6 pulmonic stenosis 32 HP:0001642
7 hypersplenism 32 occasional (7.5%) HP:0001971
8 syndactyly 32 HP:0001159
9 portal vein thrombosis 32 occasional (7.5%) HP:0030242
10 right ventricular hypertrophy 32 HP:0001667
11 pulmonary arterial hypertension 32 HP:0002092
12 aplasia cutis congenita 32 occasional (7.5%) HP:0001057
13 cavernous hemangioma 32 HP:0001048
14 esophageal varix 32 occasional (7.5%) HP:0002040
15 dystrophic toenail 32 HP:0001810

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:

id Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 5 29 24 NOTCH1

Anatomical Context for Adams-Oliver Syndrome 5

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

39
Bone, Brain, Heart, Skin, Cerebellum

Publications for Adams-Oliver Syndrome 5

Variations for Adams-Oliver Syndrome 5

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

71
id 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 all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH1 NM_017617.4(NOTCH1): c.4487G> A (p.Cys1496Tyr) single nucleotide variant Pathogenic rs587781259 GRCh37 Chromosome 9, 139399861: 139399861
2 NOTCH1 NM_017617.4(NOTCH1): c.5965G> A (p.Asp1989Asn) single nucleotide variant Pathogenic/Likely pathogenic rs587777734 GRCh38 Chromosome 9, 136499229: 136499229
3 NOTCH1 NM_017617.4(NOTCH1): c.743-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs587777735 GRCh38 Chromosome 9, 136519566: 136519566
4 NOTCH1 NM_017617.4(NOTCH1): c.1285T> C (p.Cys429Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587777736 GRCh38 Chromosome 9, 136517908: 136517908
5 NOTCH1 NC_000009.12: g.136545168_136630028del84861 deletion Pathogenic/Likely pathogenic GRCh38 Chromosome 9, 136545168: 136630028
6 NOTCH1 NM_017617.4(NOTCH1): c.6049_6050delTC (p.Ser2017Thrfs) deletion Pathogenic rs864622063 GRCh38 Chromosome 9, 136499144: 136499145
7 NOTCH1 NM_017617.4(NOTCH1): c.4739dupT (p.Met1580Ilefs) duplication Pathogenic rs864622061 GRCh38 Chromosome 9, 136504952: 136504952
8 NOTCH1 NM_017617.4(NOTCH1): c.4663G> T (p.Glu1555Ter) single nucleotide variant Pathogenic rs746342893 GRCh37 Chromosome 9, 139399480: 139399480
9 NOTCH1 NM_017617.4(NOTCH1): c.4120T> C (p.Cys1374Arg) single nucleotide variant Pathogenic/Likely pathogenic rs864622060 GRCh38 Chromosome 9, 136505776: 136505776
10 NOTCH1 NM_017617.4(NOTCH1): c.1649dupA (p.Tyr550Terfs) duplication Pathogenic rs864622059 GRCh38 Chromosome 9, 136516001: 136516001
11 NOTCH1 NM_017617.4(NOTCH1): c.1367G> A (p.Cys456Tyr) single nucleotide variant Likely pathogenic rs864622058 GRCh37 Chromosome 9, 139412278: 139412278
12 NOTCH1 NM_017617.4(NOTCH1): c.1345T> C (p.Cys449Arg) single nucleotide variant Likely pathogenic rs864622057 GRCh38 Chromosome 9, 136517848: 136517848
13 NOTCH1 NM_017617.4(NOTCH1): c.1343G> A (p.Arg448Gln) single nucleotide variant Pathogenic rs864622056 GRCh37 Chromosome 9, 139412302: 139412302
14 NOTCH1 NM_017617.4(NOTCH1): c.1220C> G (p.Pro407Arg) single nucleotide variant Likely pathogenic rs754529382 GRCh38 Chromosome 9, 136518172: 136518172

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

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
Content
Loading form....