AOS2
MCID: ADM007
MIFTS: 28

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 75 29 13 6 73
Aos2 57 75
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:



Summaries for Adams-Oliver Syndrome 2

UniProtKB/Swiss-Prot : 75 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, skin and bone, and related phenotypes are macrocephaly and hypertelorism

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 29.9 DOCK6 LOC105372273
2 oliver syndrome 29.8 DOCK6 LOC105372273
3 adams-oliver syndrome 1 10.2

Symptoms & Phenotypes for Adams-Oliver Syndrome 2

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
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

Human phenotypes related to Adams-Oliver Syndrome 2:

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

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, Skin, Bone, Eye

Publications for Adams-Oliver Syndrome 2

Articles related to Adams-Oliver Syndrome 2:

# Title Authors Year
1
Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations. ( 28884918 )
2017

Variations for Adams-Oliver Syndrome 2

ClinVar genetic disease variations for Adams-Oliver Syndrome 2:

6 (show top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 DOCK6 DOCK6, 4-BP DEL, 1362AACT deletion Pathogenic
2 DOCK6 DOCK6, 1-BP DUP, 1245T duplication Pathogenic
3 DOCK6 NM_020812.3(DOCK6): c.2520dupT (p.Arg841Serfs) duplication Pathogenic rs397509398 GRCh37 Chromosome 19, 11346308: 11346308
4 DOCK6 NM_020812.3(DOCK6): c.2520dupT (p.Arg841Serfs) duplication Pathogenic rs397509398 GRCh38 Chromosome 19, 11235632: 11235632
5 DOCK6 NM_020812.3(DOCK6): c.4107-1G> C single nucleotide variant Pathogenic rs397509399 GRCh37 Chromosome 19, 11325326: 11325326
6 DOCK6 NM_020812.3(DOCK6): c.4107-1G> C single nucleotide variant Pathogenic rs397509399 GRCh38 Chromosome 19, 11214650: 11214650
7 DOCK6 NM_020812.3(DOCK6): c.4469G> A (p.Arg1490Gln) single nucleotide variant Likely pathogenic rs200472954 GRCh38 Chromosome 19, 11213198: 11213198
8 DOCK6 NM_020812.3(DOCK6): c.4469G> A (p.Arg1490Gln) single nucleotide variant Likely pathogenic rs200472954 GRCh37 Chromosome 19, 11323874: 11323874
9 DOCK6 NM_020812.3(DOCK6): c.788T> A (p.Val263Asp) single nucleotide variant Pathogenic rs879255610 GRCh37 Chromosome 19, 11358760: 11358760
10 DOCK6 NM_020812.3(DOCK6): c.788T> A (p.Val263Asp) single nucleotide variant Pathogenic rs879255610 GRCh38 Chromosome 19, 11248084: 11248084
11 DOCK6 NM_020812.3(DOCK6): c.5939+2T> C single nucleotide variant Pathogenic rs201387914 GRCh38 Chromosome 19, 11200714: 11200714
12 DOCK6 NM_020812.3(DOCK6): c.5939+2T> C single nucleotide variant Pathogenic rs201387914 GRCh37 Chromosome 19, 11311390: 11311390
13 DOCK6 NM_020812.3(DOCK6): c.3154G> A (p.Glu1052Lys) single nucleotide variant Pathogenic rs774877657 GRCh38 Chromosome 19, 11222821: 11222821
14 DOCK6 NM_020812.3(DOCK6): c.3154G> A (p.Glu1052Lys) single nucleotide variant Pathogenic rs774877657 GRCh37 Chromosome 19, 11333497: 11333497
15 DOCK6 NM_020812.3(DOCK6): c.5361+4C> T single nucleotide variant Benign rs3745682 GRCh38 Chromosome 19, 11202580: 11202580
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.749C> T (p.Pro250Leu) single nucleotide variant Benign rs12978266 GRCh38 Chromosome 19, 11248123: 11248123
18 DOCK6 NM_020812.3(DOCK6): c.749C> T (p.Pro250Leu) single nucleotide variant Benign rs12978266 GRCh37 Chromosome 19, 11358799: 11358799
19 DOCK6 NM_020812.3(DOCK6): c.377+12T> A single nucleotide variant Benign rs8113582 GRCh38 Chromosome 19, 11252470: 11252470
20 DOCK6 NM_020812.3(DOCK6): c.377+12T> A single nucleotide variant Benign rs8113582 GRCh37 Chromosome 19, 11363146: 11363146
21 DOCK6 NM_020812.3(DOCK6): c.4197_4198insCATC (p.Val1400Hisfs) insertion Pathogenic rs767983548 GRCh37 Chromosome 19, 11325234: 11325235
22 DOCK6 NM_020812.3(DOCK6): c.4197_4198insCATC (p.Val1400Hisfs) insertion Pathogenic rs767983548 GRCh38 Chromosome 19, 11214558: 11214559
23 DOCK6 NM_020812.3(DOCK6): c.2767G> A (p.Val923Ile) single nucleotide variant Uncertain significance rs143194982 GRCh37 Chromosome 19, 11339663: 11339663
24 DOCK6 NM_020812.3(DOCK6): c.2767G> A (p.Val923Ile) single nucleotide variant Uncertain significance rs143194982 GRCh38 Chromosome 19, 11228987: 11228987
25 DOCK6 NM_020812.3(DOCK6): c.4491+1G> A single nucleotide variant Pathogenic rs772543889 GRCh38 Chromosome 19, 11213175: 11213175
26 DOCK6 NM_020812.3(DOCK6): c.4491+1G> A single nucleotide variant Pathogenic rs772543889 GRCh37 Chromosome 19, 11323851: 11323851
27 DOCK6 NM_020812.3(DOCK6): c.4959C> T (p.Asn1653=) single nucleotide variant Benign rs8409 GRCh38 Chromosome 19, 11208815: 11208815
28 DOCK6 NM_020812.3(DOCK6): c.4959C> T (p.Asn1653=) single nucleotide variant Benign rs8409 GRCh37 Chromosome 19, 11319491: 11319491
29 DOCK6 NM_020812.3(DOCK6): c.4895C> T (p.Ala1632Val) single nucleotide variant Benign rs117328686 GRCh37 Chromosome 19, 11319636: 11319636
30 DOCK6 NM_020812.3(DOCK6): c.4895C> T (p.Ala1632Val) single nucleotide variant Benign rs117328686 GRCh38 Chromosome 19, 11208960: 11208960
31 DOCK6 NM_020812.3(DOCK6): c.4050T> C (p.Asn1350=) single nucleotide variant Benign rs2304155 GRCh38 Chromosome 19, 11215443: 11215443
32 DOCK6 NM_020812.3(DOCK6): c.4050T> C (p.Asn1350=) single nucleotide variant Benign rs2304155 GRCh37 Chromosome 19, 11326119: 11326119
33 DOCK6 NM_020812.3(DOCK6): c.4044G> A (p.Pro1348=) single nucleotide variant Benign rs2304154 GRCh38 Chromosome 19, 11215449: 11215449
34 DOCK6 NM_020812.3(DOCK6): c.4044G> A (p.Pro1348=) single nucleotide variant Benign rs2304154 GRCh37 Chromosome 19, 11326125: 11326125
35 DOCK6 NM_020812.3(DOCK6): c.3894+19G> A single nucleotide variant Benign rs4804150 GRCh38 Chromosome 19, 11216895: 11216895
36 DOCK6 NM_020812.3(DOCK6): c.3894+19G> A single nucleotide variant Benign rs4804150 GRCh37 Chromosome 19, 11327571: 11327571
37 DOCK6 NM_020812.3(DOCK6): c.3876A> G (p.Leu1292=) single nucleotide variant Benign rs4804151 GRCh37 Chromosome 19, 11327608: 11327608
38 DOCK6 NM_020812.3(DOCK6): c.3876A> G (p.Leu1292=) single nucleotide variant Benign rs4804151 GRCh38 Chromosome 19, 11216932: 11216932
39 DOCK6 NM_020812.3(DOCK6): c.3858T> C (p.Asp1286=) single nucleotide variant Benign rs4804152 GRCh38 Chromosome 19, 11216950: 11216950
40 DOCK6 NM_020812.3(DOCK6): c.3858T> C (p.Asp1286=) single nucleotide variant Benign rs4804152 GRCh37 Chromosome 19, 11327626: 11327626
41 DOCK6 NM_020812.3(DOCK6): c.3507A> T (p.Leu1169=) single nucleotide variant Benign rs3810307 GRCh37 Chromosome 19, 11332570: 11332570
42 DOCK6 NM_020812.3(DOCK6): c.3507A> T (p.Leu1169=) single nucleotide variant Benign rs3810307 GRCh38 Chromosome 19, 11221894: 11221894
43 DOCK6 NM_020812.3(DOCK6): c.2956-5C> T single nucleotide variant Benign rs3810309 GRCh38 Chromosome 19, 11223111: 11223111
44 DOCK6 NM_020812.3(DOCK6): c.2956-5C> T single nucleotide variant Benign rs3810309 GRCh37 Chromosome 19, 11333787: 11333787
45 DOCK6 NM_020812.3(DOCK6): c.4344G> A (p.Pro1448=) single nucleotide variant Likely benign rs200307398 GRCh37 Chromosome 19, 11323999: 11323999
46 DOCK6 NM_020812.3(DOCK6): c.4344G> A (p.Pro1448=) single nucleotide variant Likely benign rs200307398 GRCh38 Chromosome 19, 11213323: 11213323
47 DOCK6 NM_020812.3(DOCK6): c.4824_4828delGGAGC (p.Glu1609Glyfs) deletion Pathogenic GRCh38 Chromosome 19, 11209027: 11209031
48 DOCK6 NM_020812.3(DOCK6): c.4824_4828delGGAGC (p.Glu1609Glyfs) deletion Pathogenic GRCh37 Chromosome 19, 11319703: 11319707
49 DOCK6 NM_020812.3(DOCK6): c.2104G> A (p.Gly702Ser) single nucleotide variant Uncertain significance rs199838752 GRCh37 Chromosome 19, 11347525: 11347525
50 DOCK6 NM_020812.3(DOCK6): c.2104G> A (p.Gly702Ser) single nucleotide variant Uncertain significance rs199838752 GRCh38 Chromosome 19, 11236849: 11236849

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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