MCID: ADM007
MIFTS: 24

Adams-Oliver Syndrome 2

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Adams-Oliver Syndrome 2

MalaCards integrated aliases for Adams-Oliver Syndrome 2:

Name: Adams-Oliver Syndrome 2 54 24 71 29 13 69
Aos2 24 71

Characteristics:

OMIM:

54
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 : 71 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, is also known as aos2, and has symptoms including congenital cataract, optic atrophy and strabismus. An important gene associated with Adams-Oliver Syndrome 2 is DOCK6 (Dedicator Of Cytokinesis 6). Affiliated tissues include brain, bone and skin.

OMIM : 54
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

Symptoms & Phenotypes for Adams-Oliver Syndrome 2

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
seizures
psychomotor retardation
cerebral atrophy (rare)
polymicrogyria (rare)
more
Head And Neck- Head:
microcephaly
macrocephaly (rare)
aplasia cutis congenita of the scalp

Head And Neck- Mouth:
micrognathia

Head And Neck- Eyes:
hypertelorism
small palpebral fissures
microphthalmia (rare)
optic atrophy (rare)
strabismus (rare)
more
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

Skeletal- Limbs:
terminal transverse defects, asymmetric (minimal to absence of a limb)

Head And Neck- Face:
mild facial dysmorphism
low hair line
bitemporal depression (rare)

Muscle Soft Tissue:
lymphedema, of upper and/or lower extremity (rare)

Skin Nails & Hair- Nails:
hypoplastic nails

Head And Neck- Ears:
low-set ears
prominent ears (rare)

Head And Neck- Nose:
depressed nasal bridge
bulbous nasal tip

Skin Nails & Hair- Hair:
low anterior hairline

Prenatal Manifestations- Amniotic Fluid:
oligohydramnios

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 24)
id Description HPO Frequency HPO Source Accession
1 congenital cataract 32 occasional (7.5%) HP:0000519
2 optic atrophy 32 occasional (7.5%) HP:0000648
3 strabismus 32 occasional (7.5%) HP:0000486
4 bulbous nose 32 HP:0000414
5 cerebral atrophy 32 occasional (7.5%) HP:0002059
6 seizures 32 HP:0001250
7 microcephaly 32 HP:0000252
8 low-set ears 32 HP:0000369
9 micrognathia 32 HP:0000347
10 depressed nasal bridge 32 HP:0005280
11 hypertelorism 32 HP:0000316
12 microphthalmia 32 occasional (7.5%) HP:0000568
13 polymicrogyria 32 occasional (7.5%) HP:0002126
14 global developmental delay 32 HP:0001263
15 low anterior hairline 32 HP:0000294
16 macrocephaly 32 occasional (7.5%) HP:0000256
17 cutis marmorata 32 HP:0000965
18 oligohydramnios 32 HP:0001562
19 muscular hypotonia 32 HP:0001252
20 single transverse palmar crease 32 HP:0000954
21 retrocerebellar cyst 32 occasional (7.5%) HP:0006951
22 protruding ear 32 occasional (7.5%) HP:0000411
23 small nail 32 HP:0001792
24 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:

id Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 2 29 24 DOCK6

Anatomical Context for Adams-Oliver Syndrome 2

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

39
Brain, Bone, Skin, Eye

Publications for Adams-Oliver Syndrome 2

Variations for Adams-Oliver Syndrome 2

ClinVar genetic disease variations for Adams-Oliver Syndrome 2:

6
id 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.4107-1G> C single nucleotide variant Pathogenic rs397509399 GRCh37 Chromosome 19, 11325326: 11325326
5 DOCK6 NM_020812.3(DOCK6): c.4469G> A (p.Arg1490Gln) single nucleotide variant Likely pathogenic rs200472954 GRCh38 Chromosome 19, 11213198: 11213198
6 DOCK6 NM_020812.3(DOCK6): c.788T> A (p.Val263Asp) single nucleotide variant Pathogenic rs879255610 GRCh37 Chromosome 19, 11358760: 11358760
7 DOCK6 NM_020812.3(DOCK6): c.5939+2T> C single nucleotide variant Pathogenic rs201387914 GRCh38 Chromosome 19, 11200714: 11200714
8 DOCK6 NM_020812.3(DOCK6): c.3154G> A (p.Glu1052Lys) single nucleotide variant Pathogenic rs774877657 GRCh38 Chromosome 19, 11222821: 11222821
9 DOCK6 NM_020812.3(DOCK6): c.4197_4198insCATC (p.Val1400Hisfs) insertion Pathogenic rs767983548 GRCh37 Chromosome 19, 11325234: 11325235

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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