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

MCID: ADM007 MIFTS: 27	Adams-Oliver Syndrome 2 Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 614219

MedGen ⁴² C3280182

MeSH ⁴⁴ D004476 D017880

UMLS ⁷³ C3280182

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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 oliver syndrome and adams-oliver syndrome 1, 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 microcephaly and macrocephaly

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)

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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	oliver syndrome	28.5	DOCK6 LOC105372273
2	adams-oliver syndrome 1	10.0
3	adams-oliver syndrome	10.0

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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 25)

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

UMLS symptoms related to Adams-Oliver Syndrome 2:

seizures

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Drugs & Therapeutics for Adams-Oliver Syndrome 2

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

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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

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Anatomical Context for Adams-Oliver Syndrome 2

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

⁴¹

Brain, Skin, Bone, Eye

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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 )	Jones K.M....Levy M.L.	2017

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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	1038.94	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	21820096 27077170 23522784 (more) 26457590 17159513 8849019
2	LOC105372273	Uncharacterized LOC105372273	RNA Gene	8.16	GeneCards inferred via : Variants (show sections)

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Variations for Adams-Oliver Syndrome 2

ClinVar genetic disease variations for Adams-Oliver Syndrome 2:

⁶

(show all 46)

#	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.4491+1G> A	single nucleotide variant	Pathogenic	rs772543889	GRCh37	Chromosome 19, 11323851: 11323851
24	DOCK6	NM_020812.3(DOCK6): c.4491+1G> A	single nucleotide variant	Pathogenic	rs772543889	GRCh38	Chromosome 19, 11213175: 11213175
25	DOCK6	NM_020812.3(DOCK6): c.4959C> T (p.Asn1653=)	single nucleotide variant	Benign	rs8409	GRCh38	Chromosome 19, 11208815: 11208815
26	DOCK6	NM_020812.3(DOCK6): c.4959C> T (p.Asn1653=)	single nucleotide variant	Benign	rs8409	GRCh37	Chromosome 19, 11319491: 11319491
27	DOCK6	NM_020812.3(DOCK6): c.4895C> T (p.Ala1632Val)	single nucleotide variant	Benign	rs117328686	GRCh37	Chromosome 19, 11319636: 11319636
28	DOCK6	NM_020812.3(DOCK6): c.4895C> T (p.Ala1632Val)	single nucleotide variant	Benign	rs117328686	GRCh38	Chromosome 19, 11208960: 11208960
29	DOCK6	NM_020812.3(DOCK6): c.4050T> C (p.Asn1350=)	single nucleotide variant	Benign	rs2304155	GRCh38	Chromosome 19, 11215443: 11215443
30	DOCK6	NM_020812.3(DOCK6): c.4050T> C (p.Asn1350=)	single nucleotide variant	Benign	rs2304155	GRCh37	Chromosome 19, 11326119: 11326119
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.4044G> A (p.Pro1348=)	single nucleotide variant	Benign	rs2304154	GRCh38	Chromosome 19, 11215449: 11215449
33	DOCK6	NM_020812.3(DOCK6): c.3894+19G> A	single nucleotide variant	Benign	rs4804150	GRCh38	Chromosome 19, 11216895: 11216895
34	DOCK6	NM_020812.3(DOCK6): c.3894+19G> A	single nucleotide variant	Benign	rs4804150	GRCh37	Chromosome 19, 11327571: 11327571
35	DOCK6	NM_020812.3(DOCK6): c.3876A> G (p.Leu1292=)	single nucleotide variant	Benign	rs4804151	GRCh37	Chromosome 19, 11327608: 11327608
36	DOCK6	NM_020812.3(DOCK6): c.3876A> G (p.Leu1292=)	single nucleotide variant	Benign	rs4804151	GRCh38	Chromosome 19, 11216932: 11216932
37	DOCK6	NM_020812.3(DOCK6): c.3858T> C (p.Asp1286=)	single nucleotide variant	Benign	rs4804152	GRCh38	Chromosome 19, 11216950: 11216950
38	DOCK6	NM_020812.3(DOCK6): c.3858T> C (p.Asp1286=)	single nucleotide variant	Benign	rs4804152	GRCh37	Chromosome 19, 11327626: 11327626
39	DOCK6	NM_020812.3(DOCK6): c.3507A> T (p.Leu1169=)	single nucleotide variant	Benign	rs3810307	GRCh37	Chromosome 19, 11332570: 11332570
40	DOCK6	NM_020812.3(DOCK6): c.3507A> T (p.Leu1169=)	single nucleotide variant	Benign	rs3810307	GRCh38	Chromosome 19, 11221894: 11221894
41	DOCK6	NM_020812.3(DOCK6): c.2956-5C> T	single nucleotide variant	Benign	rs3810309	GRCh38	Chromosome 19, 11223111: 11223111
42	DOCK6	NM_020812.3(DOCK6): c.2956-5C> T	single nucleotide variant	Benign	rs3810309	GRCh37	Chromosome 19, 11333787: 11333787
43	DOCK6	NM_020812.3(DOCK6): c.4344G> A (p.Pro1448=)	single nucleotide variant	Likely benign	rs200307398	GRCh37	Chromosome 19, 11323999: 11323999
44	DOCK6	NM_020812.3(DOCK6): c.4344G> A (p.Pro1448=)	single nucleotide variant	Likely benign	rs200307398	GRCh38	Chromosome 19, 11213323: 11213323
45	DOCK6	NM_020812.3(DOCK6): c.4824_4828delGGAGC (p.Glu1609Glyfs)	deletion	Pathogenic		GRCh38	Chromosome 19, 11209027: 11209031
46	DOCK6	NM_020812.3(DOCK6): c.4824_4828delGGAGC (p.Glu1609Glyfs)	deletion	Pathogenic		GRCh37	Chromosome 19, 11319703: 11319707

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Expression for Adams-Oliver Syndrome 2

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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