FVH2
MCID: FVL008
MIFTS: 27

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 57 73 29 6 71
Foveal Hypoplasia and Anterior Segment Dysgenesis 73 13
Fhonda 57 73
Fvh2 57 73
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 73
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 73
Foveal Hypoplasia 2 and Optic Nerve Misrouting with or Without Anterior Segment Dysgenesis 6
Foveal Hypoplasia-Optic Nerve Decussation Defect-Anterior Segment Dysgenesis Syndrome 58
Hypoplasia, Foveal, and Dysgenesis, Anterior Segment 39
Fhonda Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
patients exhibit no signs of ocular or cutaneous albinism


HPO:

31
foveal hypoplasia 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 609218
OMIM Phenotypic Series 57 PS136520
MeSH 44 D015785
ICD10 via Orphanet 33 Q15.8
Orphanet 58 ORPHA397618
UMLS 71 C3807873

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) (Updated 05-Mar-2021)

MalaCards based summary : Foveal Hypoplasia 2, also known as foveal hypoplasia and anterior segment dysgenesis, is related to anterior segment dysgenesis and albinism. 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 : 73 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 10.3
2 albinism 10.0

Symptoms & Phenotypes for Foveal Hypoplasia 2

Human phenotypes related to Foveal Hypoplasia 2:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 microphthalmia 31 occasional (7.5%) HP:0000568
2 posterior embryotoxon 31 occasional (7.5%) HP:0000627
3 alternating esotropia 31 occasional (7.5%) HP:0001137
4 axenfeld anomaly 31 occasional (7.5%) HP:0001492
5 nystagmus 31 HP:0000639
6 reduced visual acuity 31 HP:0007663
7 hypoplasia of the fovea 31 HP:0007750
8 optic nerve misrouting 31 HP:0025551
9 foveal hyperpigmentation 31 HP:0008001

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

40
Eye

Publications for Foveal Hypoplasia 2

Articles related to Foveal Hypoplasia 2:

# Title Authors PMID Year
1
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation. 6 57
24045842 2014
2
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. 6 57
24290379 2013
3
Variable expressivity of ocular associations of foveal hypoplasia in a family. 6 57
19590516 2009
4
A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. 57
24194637 2013
5
Chiasmal misrouting and foveal hypoplasia without albinism. 57
16707527 2006
6
A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2. 57
15466012 2004
7
Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia. 61
33498813 2021
8
Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology. 61
24161406 2013

Variations for Foveal Hypoplasia 2

ClinVar genetic disease variations for Foveal Hypoplasia 2:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC38A8 NM_001080442.2(SLC38A8):c.598C>T (p.Gln200Ter) SNV Pathogenic 125447 rs149592537 16:84065506-84065506 16:84031901-84031901
2 SLC38A8 NM_001080442.2(SLC38A8):c.842_844CTG[1] (p.Ala282del) Microsatellite Pathogenic 125448 rs587777257 16:84050851-84050853 16:84017246-84017248
3 SLC38A8 NM_001080442.2(SLC38A8):c.697G>A (p.Glu233Lys) SNV Pathogenic 125446 rs372929441 16:84056488-84056488 16:84022883-84022883
4 SLC38A8 NM_001080442.3(SLC38A8):c.435G>A (p.Trp145Ter) SNV Pathogenic 988805 16:84067028-84067028 16:84033423-84033423
5 SLC38A8 NM_001080442.3(SLC38A8):c.632+1G>A SNV Pathogenic 988806 16:84065471-84065471 16:84031866-84031866
6 SLC38A8 NM_001080442.2(SLC38A8):c.95T>G (p.Ile32Ser) SNV Pathogenic 125442 rs587777253 16:84075668-84075668 16:84042063-84042063
7 SLC38A8 NM_001080442.2(SLC38A8):c.490_491del (p.Leu164fs) Deletion Pathogenic 691946 rs1597273765 16:84066972-84066973 16:84033367-84033368
8 SLC38A8 NM_001080442.3(SLC38A8):c.264C>G (p.Tyr88Ter) SNV Pathogenic 988803 16:84070431-84070431 16:84036826-84036826
9 SLC38A8 NM_001080442.3(SLC38A8):c.698A>G (p.Glu233Gly) SNV Likely pathogenic 988804 16:84056487-84056487 16:84022882-84022882
10 SLC38A8 NM_001080442.2(SLC38A8):c.913T>C (p.Ser305Pro) SNV Likely pathogenic 383461 rs1057521634 16:84050785-84050785 16:84017180-84017180
11 SLC38A8 NM_001080442.2(SLC38A8):c.806-3C>G SNV Likely pathogenic 369950 rs1057516193 16:84050895-84050895 16:84017290-84017290
12 SLC38A8 NM_001080442.2(SLC38A8):c.848A>C (p.Asp283Ala) SNV Uncertain significance 372508 rs139373929 16:84050850-84050850 16:84017245-84017245

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

73
# 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

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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