MCID: OPT064
MIFTS: 24

Optic Atrophy 11

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

Aliases & Classifications for Optic Atrophy 11

MalaCards integrated aliases for Optic Atrophy 11:

Name: Optic Atrophy 11 57 75 29 6
Opa11 57 75
Optic Atrophy Type 11 29

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one consanguineous saudi family has been reported (last curated january 2017)


HPO:

32
optic atrophy 11:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Optic Atrophy 11

UniProtKB/Swiss-Prot : 75 Optic atrophy 11: An autosomal recessive disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA11 patients also manifest delayed psychomotor development, intellectual disability, ataxia, and leukoencephalopathy on brain imaging.

MalaCards based summary : Optic Atrophy 11, is also known as opa11. An important gene associated with Optic Atrophy 11 is YME1L1 (YME1 Like 1 ATPase). Affiliated tissues include brain and retina, and related phenotypes are microcephaly and macrocephaly

OMIM : 57 OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). (617302)

Related Diseases for Optic Atrophy 11

Symptoms & Phenotypes for Optic Atrophy 11

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
microcephaly

Head And Neck Ears:
macrotia
hearing impairment, sensorineural

Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

Laboratory Abnormalities:
increased serum and csf lactate

Neurologic Central Nervous System:
brain atrophy
intellectual disability
ataxia
global developmental delay
dysmetria
more
Head And Neck Eyes:
visual impairment
optic atrophy
strabismus
myopia
amblyopia
more
Head And Neck Face:
midface retrusion
facial diplegia

Muscle Soft Tissue:
hypotonia (in some patients)
paracrystalline inclusions
neurogenic atrophy
fiber type grouping seen on muscle biopsy
mitochondria with altered cristae


Clinical features from OMIM:

617302

Human phenotypes related to Optic Atrophy 11:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 macrocephaly 32 HP:0000256
3 macrotia 32 HP:0000400
4 strabismus 32 HP:0000486
5 visual impairment 32 HP:0000505
6 hypermetropia 32 HP:0000540
7 myopia 32 HP:0000545
8 amblyopia 32 HP:0000646
9 optic atrophy 32 HP:0000648
10 hyperactivity 32 HP:0000752
11 intellectual disability 32 HP:0001249
12 global developmental delay 32 HP:0001263
13 generalized hypotonia 32 occasional (7.5%) HP:0001290
14 dysmetria 32 HP:0001310
15 cerebellar hypoplasia 32 HP:0001321
16 facial diplegia 32 HP:0001349
17 leukoencephalopathy 32 HP:0002352
18 hyperkinesis 32 HP:0002487
19 short stature 32 HP:0004322
20 midface retrusion 32 HP:0011800
21 brain atrophy 32 HP:0012444

Drugs & Therapeutics for Optic Atrophy 11

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 11

Genetic Tests for Optic Atrophy 11

Genetic tests related to Optic Atrophy 11:

# Genetic test Affiliating Genes
1 Optic Atrophy Type 11 29
2 Optic Atrophy 11 29 YME1L1

Anatomical Context for Optic Atrophy 11

MalaCards organs/tissues related to Optic Atrophy 11:

41
Brain, Retina

Publications for Optic Atrophy 11

Variations for Optic Atrophy 11

UniProtKB/Swiss-Prot genetic disease variations for Optic Atrophy 11:

75
# Symbol AA change Variation ID SNP ID
1 YME1L1 p.Arg206Trp VAR_076869 rs1057519312Optic

ClinVar genetic disease variations for Optic Atrophy 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 YME1L1 NM_139312.2(YME1L1): c.616C> T (p.Arg206Trp) single nucleotide variant Pathogenic rs1057519312 GRCh38 Chromosome 10, 27136371: 27136371
2 YME1L1 NM_139312.2(YME1L1): c.616C> T (p.Arg206Trp) single nucleotide variant Pathogenic rs1057519312 GRCh37 Chromosome 10, 27425300: 27425300

Expression for Optic Atrophy 11

Search GEO for disease gene expression data for Optic Atrophy 11.

Pathways for Optic Atrophy 11

GO Terms for Optic Atrophy 11

Sources for Optic Atrophy 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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