AOS2
MCID: ADM007
MIFTS: 32
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Adams-Oliver Syndrome 2 (AOS2)
Categories:
Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Adams-Oliver Syndrome 2:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
limb reduction defects typically involve the distal phalanges or entire digit, with rare involvement of more proximal limb structures wide variability in severity of limb defects HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Cardiovascular diseases Eye diseases Bone diseases Skin diseases Immune diseases |
UniProtKB/Swiss-Prot
:
74
Adams-Oliver syndrome 2: 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 2, also known as aos2, is related to adams-oliver syndrome and oliver syndrome, and has symptoms including seizures An important gene associated with Adams-Oliver Syndrome 2 is DOCK6 (Dedicator Of Cytokinesis 6). Affiliated tissues include brain, eye and skin, and related phenotypes are macrocephaly and optic atrophy OMIM : 57 Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011). For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300). (614219) |
Diseases in the Adams-Oliver Syndrome family:
Diseases related to Adams-Oliver Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Adams-Oliver Syndrome 2:![]() |
Human phenotypes related to Adams-Oliver Syndrome 2:32 (show all 27)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614219UMLS symptoms related to Adams-Oliver Syndrome 2:seizures |
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MalaCards organs/tissues related to Adams-Oliver Syndrome 2:41
Brain,
Eye,
Skin,
Bone
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Articles related to Adams-Oliver Syndrome 2:(show all 30)
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ClinVar genetic disease variations for Adams-Oliver Syndrome 2:6 (show all 25)
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Search
GEO
for disease gene expression data for Adams-Oliver Syndrome 2.
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