MCID: ADM007
MIFTS: 23

Adams-Oliver Syndrome 2

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

Aliases & Classifications for Adams-Oliver Syndrome 2

MalaCards integrated aliases for Adams-Oliver Syndrome 2:

Name: Adams-Oliver Syndrome 2 53 71 28 13 69
Aos2 53 71

Characteristics:

OMIM:

53
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:



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 seizures, macrocephaly and hypertelorism. An important gene associated with Adams-Oliver Syndrome 2 is DOCK6 (Dedicator Of Cytokinesis 6). Affiliated tissues include brain, skin and bone.

OMIM : 53 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:

53
Neurologic Central Nervous System:
seizures
hypotonia
polymicrogyria (rare)
psychomotor retardation
cerebral atrophy (rare)
more
Head And Neck Ears:
low-set ears
prominent ears (rare)

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 Eyes:
hypertelorism
strabismus (rare)
microphthalmia (rare)
small palpebral fissures
optic atrophy (rare)
more
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:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 macrocephaly 31 occasional (7.5%) HP:0000256
3 hypertelorism 31 HP:0000316
4 low-set ears 31 HP:0000369
5 global developmental delay 31 HP:0001263
6 depressed nasal bridge 31 HP:0005280
7 microcephaly 31 HP:0000252
8 optic atrophy 31 occasional (7.5%) HP:0000648
9 micrognathia 31 HP:0000347
10 strabismus 31 occasional (7.5%) HP:0000486
11 protruding ear 31 occasional (7.5%) HP:0000411
12 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
13 microphthalmia 31 occasional (7.5%) HP:0000568
14 small nail 31 HP:0001792
15 bulbous nose 31 HP:0000414
16 low anterior hairline 31 HP:0000294
17 oligohydramnios 31 HP:0001562
18 polymicrogyria 31 occasional (7.5%) HP:0002126
19 cutis marmorata 31 HP:0000965
20 single transverse palmar crease 31 HP:0000954
21 cerebral atrophy 31 occasional (7.5%) HP:0002059
22 generalized hypotonia 31 HP:0001290
23 retrocerebellar cyst 31 occasional (7.5%) HP:0006951
24 congenital cataract 31 occasional (7.5%) HP:0000519
25 narrow palpebral fissure 31 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 28 DOCK6

Anatomical Context for Adams-Oliver Syndrome 2

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

38
Brain, Skin, Bone, Eye

Publications for Adams-Oliver Syndrome 2

Variations for Adams-Oliver Syndrome 2

ClinVar genetic disease variations for Adams-Oliver Syndrome 2:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....