MCID: ADM010
MIFTS: 22

Adams-Oliver Syndrome 5

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

Aliases & Classifications for Adams-Oliver Syndrome 5

MalaCards integrated aliases for Adams-Oliver Syndrome 5:

Name: Adams-Oliver Syndrome 5 53 71 28 69
Aos5 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

31
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 seizures, inguinal hernia and splenomegaly. An important gene associated with Adams-Oliver Syndrome 5 is NOTCH1 (Notch 1). Affiliated tissues include brain, bone and skin.

OMIM : 53 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:

53
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 Gastroin testinal:
esophageal varices (rare)
hypertensive gastropathy (rare)


Clinical features from OMIM:

616028

Human phenotypes related to Adams-Oliver Syndrome 5:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 inguinal hernia 31 occasional (7.5%) HP:0000023
3 splenomegaly 31 occasional (7.5%) HP:0001744
4 umbilical hernia 31 occasional (7.5%) HP:0001537
5 pulmonary arterial hypertension 31 HP:0002092
6 cavernous hemangioma 31 HP:0001048
7 hypersplenism 31 occasional (7.5%) HP:0001971
8 brachydactyly 31 HP:0001156
9 pulmonic stenosis 31 HP:0001642
10 esophageal varix 31 occasional (7.5%) HP:0002040
11 dystrophic toenail 31 HP:0001810
12 syndactyly 31 HP:0001159
13 aplasia cutis congenita 31 occasional (7.5%) HP:0001057
14 right ventricular hypertrophy 31 HP:0001667
15 portal vein thrombosis 31 occasional (7.5%) HP:0030242
16 cutis marmorata telangiectatica congenita 31 HP:0025107

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 28 NOTCH1

Anatomical Context for Adams-Oliver Syndrome 5

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

38
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:

71
# 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)
# 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.743-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs587777735 GRCh38 Chromosome 9, 136519566: 136519566
3 NOTCH1 NM_017617.4(NOTCH1): c.1285T> C (p.Cys429Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587777736 GRCh38 Chromosome 9, 136517908: 136517908
4 NOTCH1 NC_000009.12: g.136545168_136630028del84861 deletion Pathogenic GRCh38 Chromosome 9, 136545168: 136630028
5 NOTCH1 NM_017617.4(NOTCH1): c.6049_6050delTC (p.Ser2017Thrfs) deletion Pathogenic rs864622063 GRCh38 Chromosome 9, 136499144: 136499145
6 NOTCH1 NM_017617.4(NOTCH1): c.4739dupT (p.Met1580Ilefs) duplication Pathogenic rs864622061 GRCh38 Chromosome 9, 136504952: 136504952
7 NOTCH1 NM_017617.4(NOTCH1): c.4663G> T (p.Glu1555Ter) single nucleotide variant Pathogenic rs746342893 GRCh37 Chromosome 9, 139399480: 139399480
8 NOTCH1 NM_017617.4(NOTCH1): c.4120T> C (p.Cys1374Arg) single nucleotide variant Pathogenic/Likely pathogenic rs864622060 GRCh38 Chromosome 9, 136505776: 136505776
9 NOTCH1 NM_017617.4(NOTCH1): c.1649dupA (p.Tyr550Terfs) duplication Pathogenic rs864622059 GRCh38 Chromosome 9, 136516001: 136516001
10 NOTCH1 NM_017617.4(NOTCH1): c.1367G> A (p.Cys456Tyr) single nucleotide variant Likely pathogenic rs864622058 GRCh37 Chromosome 9, 139412278: 139412278
11 NOTCH1 NM_017617.4(NOTCH1): c.1345T> C (p.Cys449Arg) single nucleotide variant Likely pathogenic rs864622057 GRCh38 Chromosome 9, 136517848: 136517848
12 NOTCH1 NM_017617.4(NOTCH1): c.1343G> A (p.Arg448Gln) single nucleotide variant Pathogenic rs864622056 GRCh37 Chromosome 9, 139412302: 139412302
13 NOTCH1 NM_017617.4(NOTCH1): c.1220C> G (p.Pro407Arg) single nucleotide variant Likely pathogenic rs754529382 GRCh38 Chromosome 9, 136518172: 136518172
14 NOTCH1 NC_000009.11: g.(139439621_?)_(?_139524760)del deletion Likely pathogenic GRCh37 Chromosome 9, 139439621: 139524760

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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70 UMLS via Orphanet
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