Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

Sources

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:

MalaCards categories:
Global: Metabolic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Rare otorhinolaryngological diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁸ ORPHA543470

Sources

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

Sources

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

Sources

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%)

Sources

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

Sources

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

Sources

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

Sources

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

Sources

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

Genes related to Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FDXR	Ferredoxin Reductase	Protein Coding	383.09	Causative germline mutation ⁵⁸ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)

Sources

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

Sources

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.

Sources

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

Sources

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

Sources

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia