MCID: FVL008
MIFTS: 23

Foveal Hypoplasia 2

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

Aliases & Classifications for Foveal Hypoplasia 2

MalaCards integrated aliases for Foveal Hypoplasia 2:

Name: Foveal Hypoplasia 2 57 75 29 6 73
Foveal Hypoplasia and Anterior Segment Dysgenesis 75 13
Fhonda 57 75
Fvh2 57 75
Foveal Hypoplasia 2 with Optic Nerve Decussation Defects and Anterior Segment Dysgenesis Without Albinism; Fhonda 57
Foveal Hypoplasia 2 with Optic Nerve Decussation Defects and Anterior Segment Dysgenesis Without Albinism 57
Foveal Hypoplasia, Optic Nerve Decussation Defects, and Anterior Segment Dysgenesis Without Albinism 75
Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 57
Foveal Hypoplasia 2 with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 57
Foveal Hypoplasia with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 75
Foveal Hypoplasia 2 and Optic Nerve Misrouting with or Without Anterior Segment Dysgenesis 6
Foveal Hypoplasia-Optic Nerve Decussation Defect-Anterior Segment Dysgenesis Syndrome 59
Hypoplasia, Foveal, and Dysgenesis, Anterior Segment 40
Fhonda Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
patients exhibit no signs of ocular or cutaneous albinism


HPO:

32
foveal hypoplasia 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


Summaries for Foveal Hypoplasia 2

OMIM : 57 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 nystagmus and visual impairment

UniProtKB/Swiss-Prot : 75 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 10.1

Symptoms & Phenotypes for Foveal Hypoplasia 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
decreased visual acuity
nystagmus
alternating esotropia (in some patients)
foveal hypoplasia
absence of foveal hyperpigmentation
more

Clinical features from OMIM:

609218

Human phenotypes related to Foveal Hypoplasia 2:

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

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 29 SLC38A8

Anatomical Context for Foveal Hypoplasia 2

MalaCards organs/tissues related to Foveal Hypoplasia 2:

41
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:

75
# 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 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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