MCID: FVL005
MIFTS: 22

Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis

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

Aliases & Classifications for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting...

MalaCards integrated aliases for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis:

Name: Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 54 24
Foveal Hypoplasia 2 24 71 29 69
Foveal Hypoplasia and Anterior Segment Dysgenesis 71 13
Foveal Hypoplasia, Optic Nerve Decussation Defects, and Anterior Segment Dysgenesis Without Albinism 71
Foveal Hypoplasia with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 71
Foveal Hypoplasia-Optic Nerve Decussation Defect-Anterior Segment Dysgenesis Syndrome 56
Fhonda Syndrome 56
Fhonda 71
Fvh2 71

Characteristics:

Orphanet epidemiological data:

56
foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
patients exhibit no signs of ocular or cutaneous albinism


HPO:

32
foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


Summaries for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting...

OMIM : 54
Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (106210), microphthalmia (see 251600), albinism (see 203100), or achromatopsia (see 216900). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014). For a discussion of genetic heterogeneity of foveal hypoplasia, see FVH1 (136520). (609218)

MalaCards based summary : Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis, is also known as foveal hypoplasia 2, and has symptoms including visual impairment, nystagmus and microphthalmia. An important gene associated with Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis is SLC38A8 (Solute Carrier Family 38 Member 8). Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 71 Foveal hypoplasia 2: An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Optic nerve misrouting and anterior segment dysgenesis are observed in some FVH2 patients.

Related Diseases for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting...

Symptoms & Phenotypes for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting...

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
nystagmus
decreased visual acuity
microphthalmia (in some patients)
foveal hypoplasia
alternating esotropia (in some patients)
more

Clinical features from OMIM:

609218

Human phenotypes related to Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 nystagmus 32 HP:0000639
3 microphthalmia 32 occasional (7.5%) HP:0000568
4 reduced visual acuity 32 HP:0007663
5 posterior embryotoxon 32 occasional (7.5%) HP:0000627
6 axenfeld anomaly 32 occasional (7.5%) HP:0001492
7 alternating esotropia 32 occasional (7.5%) HP:0001137
8 hypoplasia of the fovea 32 HP:0007750

Drugs & Therapeutics for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting...

Search Clinical Trials , NIH Clinical Center for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis

Genetic Tests for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting...

Genetic tests related to Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis:

id Genetic test Affiliating Genes
1 Foveal Hypoplasia 2 29 24 SLC38A8

Anatomical Context for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting...

MalaCards organs/tissues related to Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis:

39
Eye

Publications for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting...

Variations for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting...

UniProtKB/Swiss-Prot genetic disease variations for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis:

71
id Symbol AA change Variation ID SNP ID
1 SLC38A8 p.Ile32Ser VAR_071252 rs587777253
2 SLC38A8 p.Met34Arg VAR_071253
3 SLC38A8 p.Glu233Lys VAR_071254 rs372929441
4 SLC38A8 p.Val236Asp VAR_071255 rs587777254
5 SLC38A8 p.Gly412Arg VAR_071257 rs587777256

ClinVar genetic disease variations for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC38A8 NM_001080442.2(SLC38A8): c.95T> G (p.Ile32Ser) single nucleotide variant Pathogenic rs587777253 GRCh38 Chromosome 16, 84042063: 84042063
2 SLC38A8 NM_001080442.2(SLC38A8): c.697G> A (p.Glu233Lys) single nucleotide variant Pathogenic rs372929441 GRCh38 Chromosome 16, 84022883: 84022883
3 SLC38A8 NM_001080442.2(SLC38A8): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs149592537 GRCh38 Chromosome 16, 84031901: 84031901
4 SLC38A8 NM_001080442.2(SLC38A8): c.845_847delCTG (p.Ala282del) deletion Pathogenic rs587777257 GRCh38 Chromosome 16, 84017246: 84017248
5 SLC38A8 NM_001080442.2(SLC38A8): c.806-3C> G single nucleotide variant Likely pathogenic rs1057516193 GRCh37 Chromosome 16, 84050895: 84050895

Expression for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting...

Search GEO for disease gene expression data for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis.

Pathways for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting...

GO Terms for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting...

Sources for Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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