AOA
MCID: ERL008
MIFTS: 46

Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia (AOA) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases, Blood diseases, Cancer diseases categories

Summaries for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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Genetics Home Reference:22 Ataxia with oculomotor apraxia is a condition characterized by progressive problems with movement. The hallmark of this condition is difficulty coordinating movements (ataxia), which is often the first symptom. About half of affected people have trouble moving their eyes to look side-to-side (oculomotor apraxia). People with oculomotor apraxia have to turn their head to see things in their side (peripheral) vision.

MalaCards based summary: Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia, also known as ataxia-telangiectasia-like syndrome, is related to apraxia and adenocarcinoma, and has symptoms including gait disturbance, incoordination and medial flaring of the eyebrow. An important gene associated with Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia is PCNA (proliferating cell nuclear antigen), and among its related pathways are Chks in Checkpoint Regulation and Cell Cycle / Checkpoint Control. The compounds arginine and mitomycin c have been mentioned in the context of this disorder. Affiliated tissues include eye and skin.

OMIM:46 Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal... (208920) more...

Descriptions from OMIM:46 604391,615919

Aliases & Classifications for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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Sources:
42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia, Aliases & Descriptions:

Name: Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia 42
Ataxia-Telangiectasia-Like Syndrome 42 21 23
Ataxia-Telangiectasia-Like Disorder 46 44 48
Eoca-Ha 42 44 61
Aoa1 42 48 61
Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 46 61
Spinocerebellar Ataxia with Axonal Neuropathy Type 2 22 61
Early-Onset Cerebellar Ataxia with Hypoalbuminemia 42 61
Ataxia with Oculomotor Apraxia 22 61
Ataxia-Oculomotor Apraxia 1 42 21
 
Scan2 22 61
Scar1 22 61
Eaoh 42 22
Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia 22
Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 22
Adult Onset Ataxia with Oculomotor Apraxia 22
Ataxia-Oculomotor Apraxia Syndrome 42
Ataxia - Oculomotor Apraxia Type 1 48
Atld 48
Aoa 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
aoa1:
Inheritance: Autosomal recessive; Age of onset: Childhood
ataxia-telangiectasia-like disorder:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet27 G11.3
UMLS via Orphanet62 C1859598

Related Diseases for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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Diseases related to Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1apraxia30.4APTX, MRE11A
2adenocarcinoma30.3PCNA, MRE11A
3ataxia telangiectasia30.1APTX, MRE11A
4ataxia with oculomotor apraxia type 211.0
5ataxia10.4
6ocular motor apraxia, cogan type10.3
7lung adenocarcinoma10.2
8cerebellar degeneration10.2
9cerebellar ataxia10.2
10ataxia with oculomotor apraxia type 110.2
11wiskott-aldrich syndrome10.1
12spinocerebellar ataxia autosomal recessive 110.1
13coenzyme q10 deficiency, primary, 110.1
14colorectal cancer9.8PCNA, MRE11A

Graphical network of diseases related to Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia:



Diseases related to early-onset ataxia with oculomotor apraxia and hypoalbuminemia

Symptoms for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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Symptoms by clinical synopsis from OMIM:

208920

Clinical features from OMIM:

208920,604391,615919

Symptoms:

 48
  • flared eyebrows
  • functional anomalies of the nervous system
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium

HPO human phenotypes related to Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia:

(show all 62)
id Description Frequency HPO Source Accession
1 gait disturbance hallmark (90%) HP:0001288
2 incoordination hallmark (90%) HP:0002311
3 medial flaring of the eyebrow hallmark (90%) HP:0010747
4 choreoathetosis 79% HP:0001266
5 microcephaly rare (5%) HP:0000252
6 flexion contracture rare (5%) HP:0001371
7 autosomal recessive inheritance HP:0000007
8 hypometric saccades HP:0000571
9 progressive external ophthalmoplegia HP:0000590
10 gaze-evoked nystagmus HP:0000640
11 oculomotor apraxia HP:0000657
12 peripheral axonal degeneration HP:0000764
13 ataxia HP:0001251
14 dysarthria HP:0001260
15 hyporeflexia HP:0001265
16 mental deterioration HP:0001268
17 cerebellar atrophy HP:0001272
18 areflexia HP:0001284
19 muscle weakness HP:0001324
20 dystonia HP:0001332
21 tremor HP:0001337
22 pes cavus HP:0001761
23 gait ataxia HP:0002066
24 limb ataxia HP:0002070
25 truncal ataxia HP:0002078
26 scoliosis HP:0002650
27 distal sensory impairment HP:0002936
28 hypoalbuminemia HP:0003073
29 hypercholesterolemia HP:0003124
30 decreased number of large peripheral myelinated nerve fibers HP:0003387
31 adult onset HP:0003581
32 juvenile onset HP:0003621
33 distal amyotrophy HP:0003693
34 cognitive impairment HP:0100543
35 autosomal recessive inheritance HP:0000007
36 hypometric saccades HP:0000571
37 gaze-evoked nystagmus HP:0000640
38 oculomotor apraxia HP:0000657
39 dysarthria HP:0001260
40 hyporeflexia HP:0001265
41 cerebellar atrophy HP:0001272
42 dystonia HP:0001332
43 lower limb spasticity HP:0002061
44 gait ataxia HP:0002066
45 chorea HP:0002072
46 dysdiadochokinesis HP:0002075
47 frequent falls HP:0002359
48 progressive disorder HP:0003676
49 distal amyotrophy HP:0003693
50 impaired smooth pursuit HP:0007772
51 conjunctival telangiectasia HP:0000524
52 photophobia HP:0000613
53 cutaneous photosensitivity HP:0000992
54 ataxia HP:0001251
55 dysarthria HP:0001260
56 global developmental delay HP:0001263
57 cerebellar atrophy HP:0001272
58 muscle weakness HP:0001324
59 pes cavus HP:0001761
60 dysphagia HP:0002015
61 neurodegeneration HP:0002180
62 unsteady gait HP:0002317

Drugs & Therapeutics for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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Drug clinical trials:

Search ClinicalTrials for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Search NIH Clinical Center for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Genetic Tests for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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Genetic tests related to Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia:

id Genetic test Affiliating Genes
1 Ataxia-Telangiectasia-Like Disorder21 23 MRE11A
2 Ataxia with Oculomotor Apraxia 121 APTX

Anatomical Context for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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MalaCards organs/tissues related to Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia:

32
Eye, Skin

Animal Models for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia or affiliated genes

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Publications for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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Variations for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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UniProtKB/Swiss-Prot genetic disease variations for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia:

63
id Symbol AA change Variation ID SNP ID
1APTXp.Lys211GlnVAR_018794
2APTXp.Ala212ValVAR_018795
3APTXp.Arg213HisVAR_018796rs150886026
4APTXp.His215ArgVAR_018797
5APTXp.Pro220LeuVAR_018798
6APTXp.Val277GlyVAR_018799
7APTXp.Asp281GlyVAR_018800
8APTXp.Trp293ArgVAR_018801
9APTXp.Leu237ProVAR_025365
10MRE11Ap.Asn117SerVAR_008513

Clinvar genetic disease variations for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia:

7 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1PCNANM_002592.2(PCNA): c.683G> T (p.Ser228Ile)single nucleotide variantPathogenicGRCh37Chr 20, 5096118: 5096118
2APTXNM_175073.2(APTX): c.689dupT (p.Glu232Glyfs)duplicationPathogenicGRCh37Chr 9, 32984710: 32984710
3APTXNM_175073.2(APTX): c.617C> T (p.Pro206Leu)single nucleotide variantPathogenicrs121908131GRCh37Chr 9, 32984782: 32984782
4APTXNM_175073.2(APTX): c.840delT (p.Ser281Leufs)deletionPathogenicGRCh37Chr 9, 32974490: 32974490
5APTXNM_175073.2(APTX): c.788T> G (p.Val263Gly)single nucleotide variantPathogenicrs121908132GRCh37Chr 9, 32974542: 32974542
6APTXNM_175073.2(APTX): c.602A> G (p.His201Arg)single nucleotide variantPathogenicrs121908133GRCh37Chr 9, 32984797: 32984797
7APTXAPTX, IVS7AS, G-A, -1single nucleotide variantPathogenic
8APTXNM_175073.2(APTX): c.837G> A (p.Trp279Ter)single nucleotide variantPathogenicrs104894103GRCh37Chr 9, 32974493: 32974493
9APTXNC_000009.12: g.(?_32973498)_(33001604_?)deldeletionPathogenicGRCh38Chr 9, 32973498: 33001604
10APTXNM_175073.2(APTX): c.668T> C (p.Leu223Pro)single nucleotide variantPathogenicrs267606665GRCh37Chr 9, 32984731: 32984731
11MRE11ANM_005591.3(MRE11A): c.1897C> T (p.Arg633Ter)single nucleotide variantPathogenicrs137852759GRCh37Chr 11, 94170372: 94170372
12MRE11ANM_005591.3(MRE11A): c.350A> G (p.Asn117Ser)single nucleotide variantPathogenicrs137852760GRCh37Chr 11, 94212892: 94212892
13MRE11ANM_005591.3(MRE11A): c.1714C> T (p.Arg572Ter)single nucleotide variantPathogenicrs137852761GRCh37Chr 11, 94180454: 94180454
14MRE11ANM_005591.3(MRE11A): c.1442C> A (p.Thr481Lys)single nucleotide variantPathogenicrs137852762GRCh37Chr 11, 94192632: 94192632
15MRE11ANM_005591.3(MRE11A): c.630G> C (p.Trp210Cys)single nucleotide variantPathogenicrs137852763GRCh37Chr 11, 94209484: 94209484

Expression for genes affiliated with Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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Expression patterns in normal tissues for genes affiliated with Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Search GEO for disease gene expression data for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia.

Pathways for genes affiliated with Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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Compounds for genes affiliated with Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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Compounds related to Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine449.3PCNA, MRE11A
2mitomycin c449.2PCNA, MRE11A
3methylmethanesulfonate449.0PCNA, APTX
4camptothecin44 60 1211.0PCNA, MRE11A

GO Terms for genes affiliated with Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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Cellular components related to Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleolusGO:0057308.5PCNA, APTX, MRE11A
2nucleoplasmGO:0056548.2PCNA, APTX, MRE11A

Biological processes related to Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell proliferationGO:0082839.3PCNA, MRE11A
2double-strand break repairGO:0063029.1APTX, MRE11A
3cellular response to DNA damage stimulusGO:0069749.0APTX, MRE11A
4DNA repairGO:0062819.0PCNA, MRE11A

Molecular functions related to Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1double-stranded DNA bindingGO:0036909.1APTX, MRE11A

Products for genes affiliated with Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet