FVH2
MCID: FVL008
MIFTS: 23

Foveal Hypoplasia 2 (FVH2)

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

Aliases & Classifications for Foveal Hypoplasia 2

MalaCards integrated aliases for Foveal Hypoplasia 2:

Name: Foveal Hypoplasia 2 58 76 30 6 74
Foveal Hypoplasia and Anterior Segment Dysgenesis 76 13
Fhonda 58 76
Fvh2 58 76
Foveal Hypoplasia 2 with Optic Nerve Decussation Defects and Anterior Segment Dysgenesis Without Albinism; Fhonda 58
Foveal Hypoplasia 2 with Optic Nerve Decussation Defects and Anterior Segment Dysgenesis Without Albinism 58
Foveal Hypoplasia, Optic Nerve Decussation Defects, and Anterior Segment Dysgenesis Without Albinism 76
Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 58
Foveal Hypoplasia 2 with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 58
Foveal Hypoplasia with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 76
Foveal Hypoplasia 2 and Optic Nerve Misrouting with or Without Anterior Segment Dysgenesis 6
Foveal Hypoplasia-Optic Nerve Decussation Defect-Anterior Segment Dysgenesis Syndrome 60
Hypoplasia, Foveal, and Dysgenesis, Anterior Segment 41
Fhonda Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
patients exhibit no signs of ocular or cutaneous albinism


HPO:

33
foveal hypoplasia 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

OMIM 58 609218
MeSH 45 D015785
ICD10 via Orphanet 35 Q15.8
Orphanet 60 ORPHA397618
UMLS 74 C3807873

Summaries for Foveal Hypoplasia 2

OMIM : 58 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, also known as foveal hypoplasia and anterior segment dysgenesis, is related to anterior segment dysgenesis. An important gene associated with Foveal Hypoplasia 2 is SLC38A8 (Solute Carrier Family 38 Member 8). Affiliated tissues include eye, and related phenotypes are microphthalmia and posterior embryotoxon

UniProtKB/Swiss-Prot : 76 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

Diseases in the Foveal Hypoplasia 1 family:

Foveal Hypoplasia 2

Diseases related to Foveal Hypoplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 10.2

Symptoms & Phenotypes for Foveal Hypoplasia 2

Human phenotypes related to Foveal Hypoplasia 2:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 microphthalmia 33 occasional (7.5%) HP:0000568
2 posterior embryotoxon 33 occasional (7.5%) HP:0000627
3 alternating esotropia 33 occasional (7.5%) HP:0001137
4 axenfeld anomaly 33 occasional (7.5%) HP:0001492
5 nystagmus 33 HP:0000639
6 reduced visual acuity 33 HP:0007663
7 hypoplasia of the fovea 33 HP:0007750
8 foveal hyperpigmentation 33 HP:0008001
9 optic nerve misrouting 33 HP:0025551

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
foveal hypoplasia
decreased visual acuity
microphthalmia (in some patients)
alternating esotropia (in some patients)
more

Clinical features from OMIM:

609218

Drugs & Therapeutics for Foveal Hypoplasia 2

Search Clinical Trials , NIH Clinical Center for Foveal Hypoplasia 2

Genetic Tests for Foveal Hypoplasia 2

Genetic tests related to Foveal Hypoplasia 2:

# Genetic test Affiliating Genes
1 Foveal Hypoplasia 2 30

Anatomical Context for Foveal Hypoplasia 2

MalaCards organs/tissues related to Foveal Hypoplasia 2:

42
Eye

Publications for Foveal Hypoplasia 2

Articles related to Foveal Hypoplasia 2:

# Title Authors Year
1
A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2. ( 15466012 )
2004

Variations for Foveal Hypoplasia 2

UniProtKB/Swiss-Prot genetic disease variations for Foveal Hypoplasia 2:

76
# 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:

6
# 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.95T> G (p.Ile32Ser) single nucleotide variant Pathogenic rs587777253 GRCh37 Chromosome 16, 84075668: 84075668
3 SLC38A8 NM_001080442.2(SLC38A8): c.697G> A (p.Glu233Lys) single nucleotide variant Pathogenic rs372929441 GRCh38 Chromosome 16, 84022883: 84022883
4 SLC38A8 NM_001080442.2(SLC38A8): c.697G> A (p.Glu233Lys) single nucleotide variant Pathogenic rs372929441 GRCh37 Chromosome 16, 84056488: 84056488
5 SLC38A8 NM_001080442.2(SLC38A8): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs149592537 GRCh38 Chromosome 16, 84031901: 84031901
6 SLC38A8 NM_001080442.2(SLC38A8): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs149592537 GRCh37 Chromosome 16, 84065506: 84065506
7 SLC38A8 NM_001080442.2(SLC38A8): c.845_847delCTG (p.Ala282del) deletion Pathogenic rs587777257 GRCh38 Chromosome 16, 84017246: 84017248
8 SLC38A8 NM_001080442.2(SLC38A8): c.845_847delCTG (p.Ala282del) deletion Pathogenic rs587777257 GRCh37 Chromosome 16, 84050851: 84050853
9 SLC38A8 NM_001080442.2(SLC38A8): c.806-3C> G single nucleotide variant Likely pathogenic rs1057516193 GRCh37 Chromosome 16, 84050895: 84050895
10 SLC38A8 NM_001080442.2(SLC38A8): c.806-3C> G single nucleotide variant Likely pathogenic rs1057516193 GRCh38 Chromosome 16, 84017290: 84017290

Expression for Foveal Hypoplasia 2

Search GEO for disease gene expression data for Foveal Hypoplasia 2.

Pathways for Foveal Hypoplasia 2

GO Terms for Foveal Hypoplasia 2

Sources for Foveal Hypoplasia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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45 MeSH
46 MESH via Orphanet
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50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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