AOS2
MCID: ADM007
MIFTS: 33

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 56 73 29 13 6 71
Aos2 56 73
Adams-Oliver Syndrome, Type 2 39

Characteristics:

OMIM:

56
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:

31
adams-oliver syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Adams-Oliver Syndrome 2

UniProtKB/Swiss-Prot : 73 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 bone, and related phenotypes are macrocephaly and optic atrophy

OMIM : 56 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 29.3 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, nonsyndromic 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:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 occasional (7.5%) HP:0000256
2 optic atrophy 31 occasional (7.5%) HP:0000648
3 protruding ear 31 occasional (7.5%) HP:0000411
4 strabismus 31 occasional (7.5%) HP:0000486
5 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
6 microphthalmia 31 occasional (7.5%) HP:0000568
7 developmental cataract 31 occasional (7.5%) HP:0000519
8 polymicrogyria 31 occasional (7.5%) HP:0002126
9 cerebral atrophy 31 occasional (7.5%) HP:0002059
10 retrocerebellar cyst 31 occasional (7.5%) HP:0006951
11 hypertelorism 31 HP:0000316
12 low-set ears 31 HP:0000369
13 seizures 31 HP:0001250
14 global developmental delay 31 HP:0001263
15 depressed nasal bridge 31 HP:0005280
16 micrognathia 31 HP:0000347
17 small nail 31 HP:0001792
18 microcephaly 31 HP:0000252
19 generalized hypotonia 31 HP:0001290
20 oligohydramnios 31 HP:0001562
21 bulbous nose 31 HP:0000414
22 low anterior hairline 31 HP:0000294
23 cutis marmorata 31 HP:0000965
24 single transverse palmar crease 31 HP:0000954
25 aplasia cutis congenita 31 HP:0001057
26 narrow palpebral fissure 31 HP:0045025
27 psychomotor retardation 31 HP:0025356

Symptoms via clinical synopsis from OMIM:

56
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 Mouth:
micrognathia

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

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 Head:
microcephaly
macrocephaly (rare)
aplasia cutis congenita of the scalp

Skin Nails Hair Hair:
low anterior hairline

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:

40
Brain, Eye, Bone, Skin

Publications for Adams-Oliver Syndrome 2

Articles related to Adams-Oliver Syndrome 2:

(show all 31)
# Title Authors PMID Year
1
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. 56 6
23522784 2013
2
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. 56 6
21820096 2011
3
Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption. 56 6
17159513 2007
4
Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome? 56 6
8849019 1995
5
Adams-Oliver Syndrome 6
27077170 2016
6
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. 6
26457590 2015
7
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. 56
25824905 2015
8
Mutations in NOTCH1 cause Adams-Oliver syndrome. 56
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. 56
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. 56
18203152 2008
11
Adams-Oliver syndrome: further evidence of an autosomal recessive variant. 56
17551326 2007
12
Adams-Oliver syndrome: further evidence for autosomal recessive inheritance. 56
11446419 2001
13
Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome. 56
10946361 2000
14
Further family with possible autosomal recessive inheritance of Adams-Oliver syndrome. 56
10440839 1999
15
Adams-Oliver syndrome: autosomal recessive inheritance and new phenotypic-anthropometric findings. 56
9788561 1998
16
Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance. 56
3354597 1988
17
Overexpression of Magnaporthe Oryzae Systemic Defense Trigger 1 (MoSDT1) Confers Improved Rice Blast Resistance in Rice. 61
31557947 2019
18
Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2. 61
30898718 2019
19
Silencing of tomato CTR1 provides enhanced tolerance against Tomato leaf curl virus infection. 61
30661468 2019
20
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. 61
30126188 2018
21
A virus plays a role in partially suppressing plant defenses induced by the viruliferous vectors. 61
29899498 2018
22
Over-Expression of Rice CBS Domain Containing Protein, OsCBSX3, Confers Rice Resistance to Magnaporthe oryzae Inoculation. 61
26184180 2015
23
Shared and distinct functions of two Gti1/Pac2 family proteins in growth, morphogenesis and pathogenicity of Magnaporthe oryzae. 61
23895552 2014
24
Molecular design and synthesis of novel salicyl glycoconjugates as elicitors against plant diseases. 61
25259805 2014
25
Identification and functional characterization of a rice NAC gene involved in the regulation of leaf senescence. 61
24028154 2013
26
Functional analysis and expressional characterization of rice ankyrin repeat-containing protein, OsPIANK1, in basal defense against Magnaporthe oryzae attack. 61
23555750 2013
27
Constitutive expression of rice WRKY30 gene increases the endogenous jasmonic acid accumulation, PR gene expression and resistance to fungal pathogens in rice. 61
22798060 2012
28
Lichen depsides and depsidones reduce symptoms of diseases caused by tobacco mosaic virus (TMV) in tobacco leaves. 61
22799086 2012
29
The NAC transcription factor RIM1 of rice is a new regulator of jasmonate signaling. 61
20015061 2010
30
Aphid acceptance of barley exposed to volatile phytochemicals differs between plants exposed in daylight and darkness. 61
19516995 2007
31
Allene oxide synthases of barley (Hordeum vulgare cv. Salome): tissue specific regulation in seedling development. 61
10743660 2000

Variations for Adams-Oliver Syndrome 2

ClinVar genetic disease variations for Adams-Oliver Syndrome 2:

6 (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DOCK6 NM_020812.4(DOCK6):c.1245dup (p.Asp416Ter)duplication Pathogenic 31128 19:11354245-11354246 19:11243569-11243570
2 DOCK6 NM_020812.4(DOCK6):c.2520dup (p.Arg841fs)duplication Pathogenic 55814 rs397509398 19:11346307-11346308 19:11235631-11235632
3 DOCK6 NM_020812.4(DOCK6):c.4107-1G>CSNV Pathogenic 55815 rs397509399 19:11325326-11325326 19:11214650-11214650
4 DOCK6 NM_020812.4(DOCK6):c.788T>A (p.Val263Asp)SNV Pathogenic 253046 rs879255610 19:11358760-11358760 19:11248084-11248084
5 DOCK6 NM_020812.4(DOCK6):c.5939+2T>CSNV Pathogenic 253047 rs201387914 19:11311390-11311390 19:11200714-11200714
6 DOCK6 NM_020812.4(DOCK6):c.3154G>A (p.Glu1052Lys)SNV Pathogenic 253048 rs774877657 19:11333497-11333497 19:11222821-11222821
7 DOCK6 NM_020812.4(DOCK6):c.4824_4828del (p.Glu1609fs)deletion Pathogenic 522950 rs1555826472 19:11319703-11319707 19:11209027-11209031
8 DOCK6 NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs)deletion Pathogenic/Likely pathogenic 183335 rs730882238 19:11353955-11353958 19:11243279-11243282
9 DOCK6 NM_020812.4(DOCK6):c.4469G>A (p.Arg1490Gln)SNV Likely pathogenic 202182 rs200472954 19:11323874-11323874 19:11213198-11213198
10 DOCK6 NM_020812.4(DOCK6):c.2104G>A (p.Gly702Ser)SNV Conflicting interpretations of pathogenicity 523606 rs199838752 19:11347525-11347525 19:11236849-11236849
11 DOCK6 NM_020812.4(DOCK6):c.2767G>A (p.Val923Ile)SNV Uncertain significance 523599 rs143194982 19:11339663-11339663 19:11228987-11228987
12 DOCK6 NM_020812.4(DOCK6):c.4344G>A (p.Pro1448=)SNV Benign/Likely benign 522330 rs200307398 19:11323999-11323999 19:11213323-11213323
13 DOCK6 NM_020812.4(DOCK6):c.5361+4C>TSNV Benign 261358 rs3745682 19:11313256-11313256 19:11202580-11202580
14 DOCK6 NM_020812.4(DOCK6):c.749C>T (p.Pro250Leu)SNV Benign 261359 rs12978266 19:11358799-11358799 19:11248123-11248123
15 DOCK6 NM_020812.4(DOCK6):c.377+12T>ASNV Benign 261356 rs8113582 19:11363146-11363146 19:11252470-11252470
16 DOCK6 NM_020812.4(DOCK6):c.4959C>T (p.Asn1653=)SNV Benign 518283 rs8409 19:11319491-11319491 19:11208815-11208815
17 DOCK6 NM_020812.4(DOCK6):c.4895C>T (p.Ala1632Val)SNV Benign 518284 rs117328686 19:11319636-11319636 19:11208960-11208960
18 DOCK6 NM_020812.4(DOCK6):c.4050T>C (p.Asn1350=)SNV Benign 518285 rs2304155 19:11326119-11326119 19:11215443-11215443
19 DOCK6 NM_020812.4(DOCK6):c.4044G>A (p.Pro1348=)SNV Benign 518286 rs2304154 19:11326125-11326125 19:11215449-11215449
20 DOCK6 NM_020812.4(DOCK6):c.3894+19G>ASNV Benign 518287 rs4804150 19:11327571-11327571 19:11216895-11216895
21 DOCK6 NM_020812.4(DOCK6):c.3876A>G (p.Leu1292=)SNV Benign 518288 rs4804151 19:11327608-11327608 19:11216932-11216932
22 DOCK6 NM_020812.4(DOCK6):c.3858T>C (p.Asp1286=)SNV Benign 518289 rs4804152 19:11327626-11327626 19:11216950-11216950
23 DOCK6 NM_020812.4(DOCK6):c.3507A>T (p.Leu1169=)SNV Benign 518290 rs3810307 19:11332570-11332570 19:11221894-11221894
24 DOCK6 NM_020812.4(DOCK6):c.2956-5C>TSNV Benign 518291 rs3810309 19:11333787-11333787 19:11223111-11223111
25 DOCK6 NM_020812.4(DOCK6):c.6097C>T (p.Leu2033Phe)SNV not provided 585145 rs556988328 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

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72 UMLS via Orphanet
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