MCID: OPT078
MIFTS: 15

Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome

Categories: Ear diseases, Eye diseases, Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

MalaCards integrated aliases for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome:

Name: Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome 58 6

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

MalaCards based summary : Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome An important gene associated with Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome is FDXR (Ferredoxin Reductase). Affiliated tissues include eye, and related phenotypes are failure to thrive and global developmental delay

Related Diseases for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

Symptoms & Phenotypes for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

Human phenotypes related to Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
4 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
5 delayed gross motor development 58 31 hallmark (90%) Very frequent (99-80%) HP:0002194
6 delayed fine motor development 58 31 hallmark (90%) Very frequent (99-80%) HP:0010862
7 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
8 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
9 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
10 abnormal mitochondrial shape 58 31 frequent (33%) Frequent (79-30%) HP:0012087
11 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
12 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
13 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
14 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
15 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
16 ambiguous genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000062
17 premature birth 58 31 occasional (7.5%) Occasional (29-5%) HP:0001622
18 gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002066
19 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
20 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
21 cerebellar vermis hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001320
22 muscular hypotonia of the trunk 58 31 occasional (7.5%) Occasional (29-5%) HP:0008936
23 preeclampsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100602
24 cerebral white matter hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012430
25 clitoral hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008665
26 small basal ganglia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012697
27 delayed myelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0012448
28 diffuse cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002506
29 central scotoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000603
30 hypoplasia of the frontal lobes 58 31 occasional (7.5%) Occasional (29-5%) HP:0007333
31 periventricular white matter hypodensities 58 31 occasional (7.5%) Occasional (29-5%) HP:0012794
32 seizure 31 occasional (7.5%) HP:0001250
33 seizures 58 Occasional (29-5%)
34 ataxia 58 Frequent (79-30%)
35 muscular hypotonia 58 Frequent (79-30%)
36 visual impairment 58 Frequent (79-30%)
37 hypertonia 58 Occasional (29-5%)
38 abnormality of movement 58 Occasional (29-5%)
39 abnormality of the basal ganglia 58 Occasional (29-5%)
40 abnormal corpus callosum morphology 58 Occasional (29-5%)

Drugs & Therapeutics for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

Search Clinical Trials , NIH Clinical Center for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome

Genetic Tests for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

Anatomical Context for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

MalaCards organs/tissues related to Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome:

40
Eye

Publications for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

Variations for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

ClinVar genetic disease variations for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FDXR NM_024417.5(FDXR):c.463C>T (p.Arg155Trp) SNV Likely pathogenic 983267 17:72862297-72862297 17:74866175-74866175

Expression for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

Search GEO for disease gene expression data for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome.

Pathways for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

GO Terms for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

Sources for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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