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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Eye Abnormalities (D005124)
..Starting node ..Foveal Hypoplasia and Anterior Segment Dysgenesis (C563774)
Child Nodes:
Sister Nodes:
..Ablepharon macrostomia syndrome (C535557)
..Aniridia (D015783) 10
..Ankyloblepharon filiforme adnatum cleft palate (C536373)
..Anophthalmos (D000853) 8
..Anterior segment mesenchymal dysgenesis (C537775)
..Asymmetric Short Stature Syndrome (C566248)
..Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..Axenfeld-Rieger syndrome (C535679) 3
..Blepharophimosis (D016569) 17
..Blue diaper syndrome (C536239)
..Brachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
..Chemke Oliver Mallek syndrome (C535922)
..Chromosome 6pter-P24 Deletion Syndrome (C567239)
..CODAS syndrome (C536434)
..Cole Carpenter syndrome (C535963)
..Coloboma (D003103) 43
..Craniosynostosis with Ocular Abnormalities and Hallucal Defects (C564263)
..Cryptophthalmos, Unilateral or Bilateral, Isolated (C565138)
..Dwarfism stiff joint ocular abnormalities (C535724)
..Ectopia Lentis (D004479) 13
..FACES syndrome (C536384)
..Foveal Hypoplasia and Anterior Segment Dysgenesis (C563774)
..Fraser Syndrome (D058497)
..Fronto-facio-nasal dysplasia (C538063)
..Frontoocular Syndrome (C565340)
..Goniodysgenesis-Mental Retardation-Short Stature Syndrome (C564214)
..Hay-Wells syndrome (C535847)
..Hydrophthalmos (D006871)
..Iridogoniodysgenesis and skeletal anomalies (C535534)
..Iridogoniodysgenesis type1 (C535535)
..Iridogoniodysgenesis, dominant type (C535536)
..Jejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..Joubert syndrome 1 (C536293)
..Joubert syndrome 2 (C536294)
..Joubert Syndrome 9 (C567364)
..Kapur Toriello syndrome (C537008)
..Kaufman oculocerebrofacial syndrome (C537013)
..Macrophthalmia, Colobomatous, with Microcornea (C566533)
..Maxillofacial Dysostosis (C563599)
..Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (C565405)
..Microcornea, glaucoma, and absent frontal sinuses (C537552)
..Microphthalmos (D008850) 57
..MOMES Syndrome (C564660)
..Nephrotic syndrome ocular anomalies (C536403)
..Nephrotic Syndrome, Congenital, with or without Ocular Abnormalities (C563805)
..Oculoauricular Syndrome (C567416)
..Oculoauriculofrontonasal syndrome (C537865)
..Oculocerebrocutaneous syndrome (C538088)
..Oculodentodigital Dysplasia (C563160)
..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
..Oculomaxillofacial dysostosis (C537736)
..Oculopalatocerebral Syndrome (C564935)
..Oculopalatoskeletal syndrome (C537738)
..Oculorenocerebellar syndrome (C537739)
..Pena Shokeir syndrome Type 2 (C536646)
..Persistent Hyperplastic Primary Vitreous (D054514)
..Persistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
..Peters anomaly (C537884)
..PHACE association (C537892)
..Pierson syndrome (C537185)
..Popliteal Pterygium Syndrome (C562509)
..Popliteal Pterygium Syndrome, Lethal Type (C564874)
..Prepapillary Vascular Loops (C563287)
..Pupil, Egg-Shaped (C566731)
..Pupillary Membrane, Persistence Of (C562700)
..Retinal Dysplasia (D015792) 2
..Rieger syndrome 2 (C535680)
..Rozin Hertz Goodman syndrome (C535876)
..Torsion dystonia with onset in infancy (C536969)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4387

Name:

Foveal Hypoplasia and Anterior Segment Dysgenesis

Definition:

Alternative IDs:

OMIM:609218

ParentIDs:

MESH:D005124

TreeNumbers:

C11.250/C563774 |C16.131.384/C563774

Synonyms:

FHONDA |FOVEAL HYPOPLASIA 2 |FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS, AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM |FOVEAL HYPOPLASIA 2 WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS |FVH2

Slim Mappings:

Congenital abnormality|Eye disease

Reference:

MedGen: C563774
MeSH: C563774
OMIM: 609218;

Genes: SLC38A8;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001137	Alternating esotropia	HP:0040283
3	HP:0001492	Axenfeld anomaly	HP:0040283
4	HP:0007750	Hypoplasia of the fovea
5	HP:0000568	Microphthalmia	HP:0040283
6	HP:0000639	Nystagmus
7	HP:0000627	Posterior embryotoxon	HP:0040283
8	HP:0007663	Reduced visual acuity
9	HP:0000505	Visual impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_001080442.2(SLC38A8):c.697G>A (p.Glu233Lys)	146167	SLC38A8	Pathogenic	372929441	RCV000111471;	N	Gene:550626,MedGen:C1836603,OMIM:609218	16	84056488	84056488	NM_001080442.2:c.697G>A	NP_001073911.1:p.Glu233Lys	NC_000016.9:g.84056488C>T	OMIM Allelic Variant:615585.0005	C1836603 609218 Foveal hypoplasia and anterior segment dysgenesis
NM_001080442.2(SLC38A8):c.95T>G (p.Ile32Ser)	146167	SLC38A8	Pathogenic	587777253	RCV000111467;	N	Gene:550626,MedGen:C1836603,OMIM:609218	16	84075668	84075668	NM_001080442.2:c.95T>G	NP_001073911.1:p.Ile32Ser	NC_000016.9:g.84075668A>C	OMIM Allelic Variant:615585.0001	C1836603 609218 Foveal hypoplasia and anterior segment dysgenesis