Adams-Oliver Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Bone diseases Skin diseases Neuronal diseases Cardiovascular diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 614219

OMIM Phenotypic Series ⁵⁶ PS100300

MeSH ⁴³ D004476 D017880

MedGen ⁴¹ C3280182

UMLS ⁷¹ C3280182

Sources

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)

Sources

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:

Sources

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

Sources

Drugs & Therapeutics for Adams-Oliver Syndrome 2

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

Sources

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

Sources

Anatomical Context for Adams-Oliver Syndrome 2

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

⁴⁰

Brain, Eye, Bone, Skin

Sources

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	Shaheen R...Alkuraya FS	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	Shaheen R...Alkuraya FS	21820096	2011
3	Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption. ⁵⁶ ⁶	Prothero J...Wakeling EL	17159513	2007
4	Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome? ⁵⁶ ⁶	Orstavik KH...Skjeldal O	8849019	1995
5	Adams-Oliver Syndrome ⁶	Lehman A...Patel MS	27077170	2016
6	DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ⁶	Sukalo M...Zenker M	26457590	2015
7	DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. ⁵⁶	Sukalo M...Zenker M	25824905	2015
8	Mutations in NOTCH1 cause Adams-Oliver syndrome. ⁵⁶	Stittrich AB...Patel MS	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	Balasubramanian M...Collins AL	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	McGoey RR...Lacassie Y	18203152	2008
11	Adams-Oliver syndrome: further evidence of an autosomal recessive variant. ⁵⁶	Temtamy SA...Zaki MS	17551326	2007
12	Adams-Oliver syndrome: further evidence for autosomal recessive inheritance. ⁵⁶	Unay B...Gokcay E	11446419	2001
13	Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome. ⁵⁶	Amor DJ...Bankier A	10946361	2000
14	Further family with possible autosomal recessive inheritance of Adams-Oliver syndrome. ⁵⁶	Tekin M...Arsan S	10440839	1999
15	Adams-Oliver syndrome: autosomal recessive inheritance and new phenotypic-anthropometric findings. ⁵⁶	Klinger G...Merlob P	9788561	1998
16	Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance. ⁵⁶	Koiffmann CP...Castro RM	3354597	1988
17	Overexpression of Magnaporthe Oryzae Systemic Defense Trigger 1 (MoSDT1) Confers Improved Rice Blast Resistance in Rice. ⁶¹	Wang C...Yang J	31557947	2019
18	Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2. ⁶¹	Wang Z...Shixiu Liao	30898718	2019
19	Silencing of tomato CTR1 provides enhanced tolerance against Tomato leaf curl virus infection. ⁶¹	Chandan RK...Jha G	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	Peng Q...Yang Z	30126188	2018
21	A virus plays a role in partially suppressing plant defenses induced by the viruliferous vectors. ⁶¹	Li P...Hou M	29899498	2018
22	Over-Expression of Rice CBS Domain Containing Protein, OsCBSX3, Confers Rice Resistance to Magnaporthe oryzae Inoculation. ⁶¹	Mou S...He S	26184180	2015
23	Shared and distinct functions of two Gti1/Pac2 family proteins in growth, morphogenesis and pathogenicity of Magnaporthe oryzae. ⁶¹	Chen Y...Zhang Z	23895552	2014
24	Molecular design and synthesis of novel salicyl glycoconjugates as elicitors against plant diseases. ⁶¹	Cui Z...Nishida Y	25259805	2014
25	Identification and functional characterization of a rice NAC gene involved in the regulation of leaf senescence. ⁶¹	Zhou Y...Lin Y	24028154	2013
26	Functional analysis and expressional characterization of rice ankyrin repeat-containing protein, OsPIANK1, in basal defense against Magnaporthe oryzae attack. ⁶¹	Mou S...He S	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	Peng X...Guo Z	22798060	2012
28	Lichen depsides and depsidones reduce symptoms of diseases caused by tobacco mosaic virus (TMV) in tobacco leaves. ⁶¹	Ramirez I...Pena-Cortes H	22799086	2012
29	The NAC transcription factor RIM1 of rice is a new regulator of jasmonate signaling. ⁶¹	Yoshii M...Hirochika H	20015061	2010
30	Aphid acceptance of barley exposed to volatile phytochemicals differs between plants exposed in daylight and darkness. ⁶¹	Glinwood R...Ninkovic V	19516995	2007
31	Allene oxide synthases of barley (Hordeum vulgare cv. Salome): tissue specific regulation in seedling development. ⁶¹	Maucher H...Wasternack C	10743660	2000

Sources

Genes for Adams-Oliver Syndrome 2

Genes related to Adams-Oliver Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DOCK6	Dedicator Of Cytokinesis 6	Protein Coding	1039.81	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	8849019 26457590 21820096 (more) 23522784 17159513 27077170
2	LOC105372273	Uncharacterized LOC105372273	RNA Gene	8.76	GeneCards inferred via : Variants (show sections)

Sources

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>C	SNV	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>C	SNV	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>T	SNV	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>A	SNV	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>A	SNV	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>T	SNV	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

Sources

Expression for Adams-Oliver Syndrome 2

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

Sources

Pathways for Adams-Oliver Syndrome 2

Sources

GO Terms for Adams-Oliver Syndrome 2

Sources

Sources for Adams-Oliver Syndrome 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Adams-Oliver Syndrome 2 (AOS2)

Aliases & Classifications for Adams-Oliver Syndrome 2

MalaCards integrated aliases for Adams-Oliver Syndrome 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Adams-Oliver Syndrome 2

Related Diseases for Adams-Oliver Syndrome 2

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:

Symptoms & Phenotypes for Adams-Oliver Syndrome 2

Human phenotypes related to Adams-Oliver Syndrome 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Adams-Oliver Syndrome 2:

Drugs & Therapeutics for Adams-Oliver Syndrome 2

Genetic Tests for Adams-Oliver Syndrome 2

Genetic tests related to Adams-Oliver Syndrome 2:

Anatomical Context for Adams-Oliver Syndrome 2

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

Publications for Adams-Oliver Syndrome 2

Articles related to Adams-Oliver Syndrome 2:

Genes for Adams-Oliver Syndrome 2

Genes related to Adams-Oliver Syndrome 2 (1 elite genes):

Variations for Adams-Oliver Syndrome 2

ClinVar genetic disease variations for Adams-Oliver Syndrome 2:

Expression for Adams-Oliver Syndrome 2

Pathways for Adams-Oliver Syndrome 2

GO Terms for Adams-Oliver Syndrome 2

Sources for Adams-Oliver Syndrome 2