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AOS2
MCID: ADM007
MIFTS: 29

Adams-Oliver Syndrome 2 (AOS2)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Adams-Oliver Syndrome 2

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MalaCards integrated aliases for Adams-Oliver Syndrome 2:

Name: Adams-Oliver Syndrome 2 58 76 30 13 6 74
Aos2 58 76
Adams-Oliver Syndrome, Type 2 41

Characteristics:

OMIM:

58
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:

33
adams-oliver syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Skin diseases Bone diseases Neuronal diseases Cardiovascular diseases Immune diseases
See all MalaCards categories (disease lists)


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Summaries for Adams-Oliver Syndrome 2

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UniProtKB/Swiss-Prot : 76 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 : 58 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)

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Related Diseases for Adams-Oliver Syndrome 2

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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 29.6 DOCK6 LOC105372273
2 oliver syndrome 29.4 DOCK6 LOC105372273

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Symptoms & Phenotypes for Adams-Oliver Syndrome 2

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Human phenotypes related to Adams-Oliver Syndrome 2:

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 occasional (7.5%) HP:0000256
2 optic atrophy 33 occasional (7.5%) HP:0000648
3 strabismus 33 occasional (7.5%) HP:0000486
4 protruding ear 33 occasional (7.5%) HP:0000411
5 cerebellar hypoplasia 33 occasional (7.5%) HP:0001321
6 microphthalmia 33 occasional (7.5%) HP:0000568
7 polymicrogyria 33 occasional (7.5%) HP:0002126
8 cerebral atrophy 33 occasional (7.5%) HP:0002059
9 retrocerebellar cyst 33 occasional (7.5%) HP:0006951
10 developmental cataract 33 occasional (7.5%) HP:0000519
11 hypertelorism 33 HP:0000316
12 low-set ears 33 HP:0000369
13 seizures 33 HP:0001250
14 global developmental delay 33 HP:0001263
15 depressed nasal bridge 33 HP:0005280
16 microcephaly 33 HP:0000252
17 micrognathia 33 HP:0000347
18 small nail 33 HP:0001792
19 bulbous nose 33 HP:0000414
20 low anterior hairline 33 HP:0000294
21 oligohydramnios 33 HP:0001562
22 generalized hypotonia 33 HP:0001290
23 cutis marmorata 33 HP:0000965
24 single transverse palmar crease 33 HP:0000954
25 aplasia cutis congenita 33 HP:0001057
26 narrow palpebral fissure 33 HP:0045025
27 psychomotor retardation 33 HP:0025356

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
strabismus (rare)
microphthalmia (rare)
small palpebral fissures
optic atrophy (rare)
more
Neurologic Central Nervous System:
seizures
hypotonia
polymicrogyria (rare)
psychomotor retardation
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
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Drugs & Therapeutics for Adams-Oliver Syndrome 2

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

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Genetic Tests for Adams-Oliver Syndrome 2

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Genetic tests related to Adams-Oliver Syndrome 2:

# Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 2 30 DOCK6
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Anatomical Context for Adams-Oliver Syndrome 2

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

42
Brain, Eye, Skin, Bone
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Publications for Adams-Oliver Syndrome 2

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Articles related to Adams-Oliver Syndrome 2:

# Title Authors Year
1
Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2. ( 30898718 )
2019
2
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 26457590 )
2015
3
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. ( 23522784 )
2013
4
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. ( 21820096 )
2011
5
Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption. ( 17159513 )
2007
6
Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome? ( 8849019 )
1995
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Variations for Adams-Oliver Syndrome 2

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ClinVar genetic disease variations for Adams-Oliver Syndrome 2:

6 (show top 50) (show all 51)
# Gene Variation Type Significance SNP ID Assembly Location
1 DOCK6 DOCK6, 1-BP DUP, 1245T duplication Pathogenic
2 DOCK6 NM_020812.3(DOCK6): c.2520dupT (p.Arg841Serfs) duplication Pathogenic rs397509398 GRCh37 Chromosome 19, 11346308: 11346308
3 DOCK6 NM_020812.3(DOCK6): c.2520dupT (p.Arg841Serfs) duplication Pathogenic rs397509398 GRCh38 Chromosome 19, 11235632: 11235632
4 DOCK6 NM_020812.3(DOCK6): c.4107-1G> C single nucleotide variant Pathogenic rs397509399 GRCh37 Chromosome 19, 11325326: 11325326
5 DOCK6 NM_020812.3(DOCK6): c.4107-1G> C single nucleotide variant Pathogenic rs397509399 GRCh38 Chromosome 19, 11214650: 11214650
6 DOCK6 NM_020812.3(DOCK6): c.1362_1365delAACT (p.Thr455Serfs) deletion Pathogenic/Likely pathogenic rs730882238 GRCh38 Chromosome 19, 11243279: 11243282
7 DOCK6 NM_020812.3(DOCK6): c.1362_1365delAACT (p.Thr455Serfs) deletion Pathogenic/Likely pathogenic rs730882238 GRCh37 Chromosome 19, 11353955: 11353958
8 DOCK6 NM_020812.3(DOCK6): c.4469G> A (p.Arg1490Gln) single nucleotide variant Likely pathogenic rs200472954 GRCh38 Chromosome 19, 11213198: 11213198
9 DOCK6 NM_020812.3(DOCK6): c.4469G> A (p.Arg1490Gln) single nucleotide variant Likely pathogenic rs200472954 GRCh37 Chromosome 19, 11323874: 11323874
10 DOCK6 NM_020812.3(DOCK6): c.788T> A (p.Val263Asp) single nucleotide variant Pathogenic rs879255610 GRCh37 Chromosome 19, 11358760: 11358760
11 DOCK6 NM_020812.3(DOCK6): c.788T> A (p.Val263Asp) single nucleotide variant Pathogenic rs879255610 GRCh38 Chromosome 19, 11248084: 11248084
12 DOCK6 NM_020812.3(DOCK6): c.5939+2T> C single nucleotide variant Pathogenic rs201387914 GRCh38 Chromosome 19, 11200714: 11200714
13 DOCK6 NM_020812.3(DOCK6): c.5939+2T> C single nucleotide variant Pathogenic rs201387914 GRCh37 Chromosome 19, 11311390: 11311390
14 DOCK6 NM_020812.3(DOCK6): c.3154G> A (p.Glu1052Lys) single nucleotide variant Pathogenic rs774877657 GRCh38 Chromosome 19, 11222821: 11222821
15 DOCK6 NM_020812.3(DOCK6): c.3154G> A (p.Glu1052Lys) single nucleotide variant Pathogenic rs774877657 GRCh37 Chromosome 19, 11333497: 11333497
16 DOCK6 NM_020812.3(DOCK6): c.5361+4C> T single nucleotide variant Benign rs3745682 GRCh37 Chromosome 19, 11313256: 11313256
17 DOCK6 NM_020812.3(DOCK6): c.5361+4C> T single nucleotide variant Benign rs3745682 GRCh38 Chromosome 19, 11202580: 11202580
18 DOCK6 NM_020812.3(DOCK6): c.749C> T (p.Pro250Leu) single nucleotide variant Benign rs12978266 GRCh38 Chromosome 19, 11248123: 11248123
19 DOCK6 NM_020812.3(DOCK6): c.749C> T (p.Pro250Leu) single nucleotide variant Benign rs12978266 GRCh37 Chromosome 19, 11358799: 11358799
20 DOCK6 NM_020812.3(DOCK6): c.377+12T> A single nucleotide variant Benign rs8113582 GRCh38 Chromosome 19, 11252470: 11252470
21 DOCK6 NM_020812.3(DOCK6): c.377+12T> A single nucleotide variant Benign rs8113582 GRCh37 Chromosome 19, 11363146: 11363146
22 DOCK6 NM_020812.3(DOCK6): c.4197_4198insCATC (p.Val1400Hisfs) insertion Pathogenic rs1555688690 GRCh37 Chromosome 19, 11325234: 11325235
23 DOCK6 NM_020812.3(DOCK6): c.4197_4198insCATC (p.Val1400Hisfs) insertion Pathogenic rs1555688690 GRCh38 Chromosome 19, 11214558: 11214559
24 DOCK6 NM_020812.3(DOCK6): c.4959C> T (p.Asn1653=) single nucleotide variant Benign rs8409 GRCh38 Chromosome 19, 11208815: 11208815
25 DOCK6 NM_020812.3(DOCK6): c.4959C> T (p.Asn1653=) single nucleotide variant Benign rs8409 GRCh37 Chromosome 19, 11319491: 11319491
26 DOCK6 NM_020812.3(DOCK6): c.4895C> T (p.Ala1632Val) single nucleotide variant Benign rs117328686 GRCh37 Chromosome 19, 11319636: 11319636
27 DOCK6 NM_020812.3(DOCK6): c.4895C> T (p.Ala1632Val) single nucleotide variant Benign rs117328686 GRCh38 Chromosome 19, 11208960: 11208960
28 DOCK6 NM_020812.3(DOCK6): c.4050T> C (p.Asn1350=) single nucleotide variant Benign rs2304155 GRCh38 Chromosome 19, 11215443: 11215443
29 DOCK6 NM_020812.3(DOCK6): c.4050T> C (p.Asn1350=) single nucleotide variant Benign rs2304155 GRCh37 Chromosome 19, 11326119: 11326119
30 DOCK6 NM_020812.3(DOCK6): c.4044G> A (p.Pro1348=) single nucleotide variant Benign rs2304154 GRCh38 Chromosome 19, 11215449: 11215449
31 DOCK6 NM_020812.3(DOCK6): c.4044G> A (p.Pro1348=) single nucleotide variant Benign rs2304154 GRCh37 Chromosome 19, 11326125: 11326125
32 DOCK6 NM_020812.3(DOCK6): c.3894+19G> A single nucleotide variant Benign rs4804150 GRCh38 Chromosome 19, 11216895: 11216895
33 DOCK6 NM_020812.3(DOCK6): c.3894+19G> A single nucleotide variant Benign rs4804150 GRCh37 Chromosome 19, 11327571: 11327571
34 DOCK6 NM_020812.3(DOCK6): c.3876A> G (p.Leu1292=) single nucleotide variant Benign rs4804151 GRCh37 Chromosome 19, 11327608: 11327608
35 DOCK6 NM_020812.3(DOCK6): c.3876A> G (p.Leu1292=) single nucleotide variant Benign rs4804151 GRCh38 Chromosome 19, 11216932: 11216932
36 DOCK6 NM_020812.3(DOCK6): c.3858T> C (p.Asp1286=) single nucleotide variant Benign rs4804152 GRCh38 Chromosome 19, 11216950: 11216950
37 DOCK6 NM_020812.3(DOCK6): c.3858T> C (p.Asp1286=) single nucleotide variant Benign rs4804152 GRCh37 Chromosome 19, 11327626: 11327626
38 DOCK6 NM_020812.3(DOCK6): c.3507A> T (p.Leu1169=) single nucleotide variant Benign rs3810307 GRCh37 Chromosome 19, 11332570: 11332570
39 DOCK6 NM_020812.3(DOCK6): c.3507A> T (p.Leu1169=) single nucleotide variant Benign rs3810307 GRCh38 Chromosome 19, 11221894: 11221894
40 DOCK6 NM_020812.3(DOCK6): c.2956-5C> T single nucleotide variant Benign rs3810309 GRCh38 Chromosome 19, 11223111: 11223111
41 DOCK6 NM_020812.3(DOCK6): c.2956-5C> T single nucleotide variant Benign rs3810309 GRCh37 Chromosome 19, 11333787: 11333787
42 DOCK6 NM_020812.3(DOCK6): c.4344G> A (p.Pro1448=) single nucleotide variant Likely benign rs200307398 GRCh37 Chromosome 19, 11323999: 11323999
43 DOCK6 NM_020812.3(DOCK6): c.4344G> A (p.Pro1448=) single nucleotide variant Likely benign rs200307398 GRCh38 Chromosome 19, 11213323: 11213323
44 DOCK6 NM_020812.3(DOCK6): c.4824_4828del (p.Glu1609Glyfs) deletion Pathogenic rs1555826472 GRCh38 Chromosome 19, 11209027: 11209031
45 DOCK6 NM_020812.3(DOCK6): c.4824_4828del (p.Glu1609Glyfs) deletion Pathogenic rs1555826472 GRCh37 Chromosome 19, 11319703: 11319707
46 DOCK6 NM_020812.3(DOCK6): c.2767G> A (p.Val923Ile) single nucleotide variant Uncertain significance rs143194982 GRCh37 Chromosome 19, 11339663: 11339663
47 DOCK6 NM_020812.3(DOCK6): c.2767G> A (p.Val923Ile) single nucleotide variant Uncertain significance rs143194982 GRCh38 Chromosome 19, 11228987: 11228987
48 DOCK6 NM_020812.3(DOCK6): c.2104G> A (p.Gly702Ser) single nucleotide variant Uncertain significance rs199838752 GRCh37 Chromosome 19, 11347525: 11347525
49 DOCK6 NM_020812.3(DOCK6): c.2104G> A (p.Gly702Ser) single nucleotide variant Uncertain significance rs199838752 GRCh38 Chromosome 19, 11236849: 11236849
50 DOCK6 NM_020812.3(DOCK6): c.6097C> T (p.Leu2033Phe) single nucleotide variant not provided GRCh37 Chromosome 19, 11310988: 11310988
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Expression for Adams-Oliver Syndrome 2

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

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GO Terms for Adams-Oliver Syndrome 2

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Sources for Adams-Oliver Syndrome 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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