AOS2
MCID: ADM007
MIFTS: 32

Adams-Oliver Syndrome 2 (AOS2)

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 2

MalaCards integrated aliases for Adams-Oliver Syndrome 2:

Name: Adams-Oliver Syndrome 2 57 74 29 13 6 72
Aos2 57 74
Adams-Oliver Syndrome, Type 2 40

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:

32
adams-oliver syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MedGen 42 C3280182
UMLS 72 C3280182

Summaries for Adams-Oliver Syndrome 2

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)

Related Diseases for Adams-Oliver Syndrome 2

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

# Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 29.2 LOC105372273 DOCK6
2 oliver syndrome 29.0 LOC105372273 DOCK6
3 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
4 polymicrogyria 10.1
5 aplasia cutis congenita 10.1

Graphical network of the top 20 diseases related to Adams-Oliver Syndrome 2:



Diseases related to Adams-Oliver Syndrome 2

Symptoms & Phenotypes for Adams-Oliver Syndrome 2

Human phenotypes related to Adams-Oliver Syndrome 2:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 occasional (7.5%) HP:0000256
2 optic atrophy 32 occasional (7.5%) HP:0000648
3 protruding ear 32 occasional (7.5%) HP:0000411
4 strabismus 32 occasional (7.5%) HP:0000486
5 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
6 microphthalmia 32 occasional (7.5%) HP:0000568
7 polymicrogyria 32 occasional (7.5%) HP:0002126
8 cerebral atrophy 32 occasional (7.5%) HP:0002059
9 retrocerebellar cyst 32 occasional (7.5%) HP:0006951
10 developmental cataract 32 occasional (7.5%) HP:0000519
11 hypertelorism 32 HP:0000316
12 low-set ears 32 HP:0000369
13 seizures 32 HP:0001250
14 global developmental delay 32 HP:0001263
15 depressed nasal bridge 32 HP:0005280
16 microcephaly 32 HP:0000252
17 micrognathia 32 HP:0000347
18 generalized hypotonia 32 HP:0001290
19 small nail 32 HP:0001792
20 bulbous nose 32 HP:0000414
21 low anterior hairline 32 HP:0000294
22 oligohydramnios 32 HP:0001562
23 cutis marmorata 32 HP:0000965
24 single transverse palmar crease 32 HP:0000954
25 aplasia cutis congenita 32 HP:0001057
26 narrow palpebral fissure 32 HP:0045025
27 psychomotor retardation 32 HP:0025356

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus (rare)
microphthalmia (rare)
small palpebral fissures
optic atrophy (rare)
more
Neurologic Central Nervous System:
seizures
psychomotor retardation
hypotonia
polymicrogyria (rare)
cerebral atrophy (rare)
more
Head And Neck Head:
microcephaly
macrocephaly (rare)
aplasia cutis congenita of the scalp

Skin Nails Hair Hair:
low anterior hairline

Skin Nails Hair Skin:
cutis marmorata
aplasia cutis congenita of the scalp
aplasia cutis congenita of the abdomen (in some patients)
prominent veins on scalp, trunk, and/or extremities

Skin Nails Hair Nails:
hypoplastic nails

Head And Neck Face:
mild facial dysmorphism
low hair line
bitemporal depression (rare)

Muscle Soft Tissue:
lymphedema, of upper and/or lower extremity (rare)

Head And Neck Ears:
low-set ears
prominent ears (rare)

Head And Neck Nose:
depressed nasal bridge
bulbous nasal tip

Head And Neck Mouth:
micrognathia

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Skeletal Limbs:
terminal transverse defects, asymmetric (minimal to absence of a limb)

Skeletal Hands:
single palmar creases
shortened digits

Skeletal Feet:
shortened digits
webbing, interdigital

Clinical features from OMIM:

614219

UMLS symptoms related to Adams-Oliver Syndrome 2:


seizures

Drugs & Therapeutics for Adams-Oliver Syndrome 2

Search Clinical Trials , NIH Clinical Center for Adams-Oliver Syndrome 2

Genetic Tests for Adams-Oliver Syndrome 2

Genetic tests related to Adams-Oliver Syndrome 2:

# Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 2 29 DOCK6

Anatomical Context for Adams-Oliver Syndrome 2

MalaCards organs/tissues related to Adams-Oliver Syndrome 2:

41
Brain, Eye, Skin, Bone

Publications for Adams-Oliver Syndrome 2

Articles related to Adams-Oliver Syndrome 2:

(show all 30)
# Title Authors PMID Year
1
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. 8 71
23522784 2013
2
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. 8 71
21820096 2011
3
Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption. 8 71
17159513 2007
4
Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome? 8 71
8849019 1995
5
Adams-Oliver Syndrome 71
27077170 2016
6
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. 71
26457590 2015
7
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. 8
25824905 2015
8
Mutations in NOTCH1 cause Adams-Oliver syndrome. 8
25132448 2014
9
Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome. 8
19416763 2009
10
Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant. 8
18203152 2008
11
Adams-Oliver syndrome: further evidence of an autosomal recessive variant. 8
17551326 2007
12
Adams-Oliver syndrome: further evidence for autosomal recessive inheritance. 8
11446419 2001
13
Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome. 8
10946361 2000
14
Further family with possible autosomal recessive inheritance of Adams-Oliver syndrome. 8
10440839 1999
15
Adams-Oliver syndrome: autosomal recessive inheritance and new phenotypic-anthropometric findings. 8
9788561 1998
16
Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance. 8
3354597 1988
17
Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2. 38
30898718 2019
18
Silencing of tomato CTR1 provides enhanced tolerance against Tomato leaf curl virus infection. 38
30661468 2019
19
Functional Characterization of An Allene Oxide Synthase Involved in Biosynthesis of Jasmonic Acid and Its Influence on Metabolite Profiles and Ethylene Formation in Tea (Camellia sinensis) Flowers. 38
30126188 2018
20
A virus plays a role in partially suppressing plant defenses induced by the viruliferous vectors. 38
29899498 2018
21
Over-Expression of Rice CBS Domain Containing Protein, OsCBSX3, Confers Rice Resistance to Magnaporthe oryzae Inoculation. 38
26184180 2015
22
Shared and distinct functions of two Gti1/Pac2 family proteins in growth, morphogenesis and pathogenicity of Magnaporthe oryzae. 38
23895552 2014
23
Molecular design and synthesis of novel salicyl glycoconjugates as elicitors against plant diseases. 38
25259805 2014
24
Identification and functional characterization of a rice NAC gene involved in the regulation of leaf senescence. 38
24028154 2013
25
Functional analysis and expressional characterization of rice ankyrin repeat-containing protein, OsPIANK1, in basal defense against Magnaporthe oryzae attack. 38
23555750 2013
26
Constitutive expression of rice WRKY30 gene increases the endogenous jasmonic acid accumulation, PR gene expression and resistance to fungal pathogens in rice. 38
22798060 2012
27
Lichen depsides and depsidones reduce symptoms of diseases caused by tobacco mosaic virus (TMV) in tobacco leaves. 38
22799086 2012
28
The NAC transcription factor RIM1 of rice is a new regulator of jasmonate signaling. 38
20015061 2010
29
Aphid acceptance of barley exposed to volatile phytochemicals differs between plants exposed in daylight and darkness. 38
19516995 2007
30
Allene oxide synthases of barley (Hordeum vulgare cv. Salome): tissue specific regulation in seedling development. 38
10743660 2000

Variations for Adams-Oliver Syndrome 2

ClinVar genetic disease variations for Adams-Oliver Syndrome 2:

6 (show all 25)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DOCK6 NM_020812.4(DOCK6): c.4824_4828del (p.Glu1609fs) deletion Pathogenic rs1555826472 19:11319703-11319707 19:11209027-11209031
2 DOCK6 DOCK6, 1-BP DUP, 1245T duplication Pathogenic
3 DOCK6 NM_020812.4(DOCK6): c.788T> A (p.Val263Asp) single nucleotide variant Pathogenic rs879255610 19:11358760-11358760 19:11248084-11248084
4 DOCK6 NM_020812.4(DOCK6): c.5939+2T> C single nucleotide variant Pathogenic rs201387914 19:11311390-11311390 19:11200714-11200714
5 DOCK6 NM_020812.4(DOCK6): c.3154G> A (p.Glu1052Lys) single nucleotide variant Pathogenic rs774877657 19:11333497-11333497 19:11222821-11222821
6 DOCK6 NM_020812.4(DOCK6): c.4107-1G> C single nucleotide variant Pathogenic rs397509399 19:11325326-11325326 19:11214650-11214650
7 DOCK6 NM_020812.4(DOCK6): c.2520dup (p.Arg841fs) duplication Pathogenic rs397509398 19:11346308-11346308 19:11235632-11235632
8 DOCK6 NM_020812.4(DOCK6): c.1362_1365del (p.Thr455fs) deletion Pathogenic/Likely pathogenic rs730882238 19:11353955-11353958 19:11243279-11243282
9 DOCK6 NM_020812.4(DOCK6): c.4469G> A (p.Arg1490Gln) single nucleotide variant Likely pathogenic rs200472954 19:11323874-11323874 19:11213198-11213198
10 DOCK6 NM_020812.4(DOCK6): c.2104G> A (p.Gly702Ser) single nucleotide variant Uncertain significance rs199838752 19:11347525-11347525 19:11236849-11236849
11 DOCK6 NM_020812.4(DOCK6): c.2767G> A (p.Val923Ile) single nucleotide variant Uncertain significance rs143194982 19:11339663-11339663 19:11228987-11228987
12 DOCK6 NM_020812.4(DOCK6): c.4344G> A (p.Pro1448=) single nucleotide variant Likely benign rs200307398 19:11323999-11323999 19:11213323-11213323
13 DOCK6 NM_020812.4(DOCK6): c.5361+4C> T single nucleotide variant Benign rs3745682 19:11313256-11313256 19:11202580-11202580
14 DOCK6 NM_020812.4(DOCK6): c.749C> T (p.Pro250Leu) single nucleotide variant Benign rs12978266 19:11358799-11358799 19:11248123-11248123
15 DOCK6 NM_020812.4(DOCK6): c.377+12T> A single nucleotide variant Benign rs8113582 19:11363146-11363146 19:11252470-11252470
16 DOCK6 NM_020812.4(DOCK6): c.4959C> T (p.Asn1653=) single nucleotide variant Benign rs8409 19:11319491-11319491 19:11208815-11208815
17 DOCK6 NM_020812.4(DOCK6): c.4895C> T (p.Ala1632Val) single nucleotide variant Benign rs117328686 19:11319636-11319636 19:11208960-11208960
18 DOCK6 NM_020812.4(DOCK6): c.4050T> C (p.Asn1350=) single nucleotide variant Benign rs2304155 19:11326119-11326119 19:11215443-11215443
19 DOCK6 NM_020812.4(DOCK6): c.4044G> A (p.Pro1348=) single nucleotide variant Benign rs2304154 19:11326125-11326125 19:11215449-11215449
20 DOCK6 NM_020812.4(DOCK6): c.3894+19G> A single nucleotide variant Benign rs4804150 19:11327571-11327571 19:11216895-11216895
21 DOCK6 NM_020812.4(DOCK6): c.3876A> G (p.Leu1292=) single nucleotide variant Benign rs4804151 19:11327608-11327608 19:11216932-11216932
22 DOCK6 NM_020812.4(DOCK6): c.3858T> C (p.Asp1286=) single nucleotide variant Benign rs4804152 19:11327626-11327626 19:11216950-11216950
23 DOCK6 NM_020812.4(DOCK6): c.3507A> T (p.Leu1169=) single nucleotide variant Benign rs3810307 19:11332570-11332570 19:11221894-11221894
24 DOCK6 NM_020812.4(DOCK6): c.2956-5C> T single nucleotide variant Benign rs3810309 19:11333787-11333787 19:11223111-11223111
25 DOCK6 NM_020812.4(DOCK6): c.6097C> T (p.Leu2033Phe) single nucleotide variant not provided 19:11310988-11310988 19:11200312-11200312

Expression for Adams-Oliver Syndrome 2

Search GEO for disease gene expression data for Adams-Oliver Syndrome 2.

Pathways for Adams-Oliver Syndrome 2

GO Terms for Adams-Oliver Syndrome 2

Sources for Adams-Oliver Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....