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Hello! Guest! Please Login or Register! Clinician Mode

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: Cataract (D002386)
Parent Node: Corneal Dystrophies, Hereditary (D003317)
Parent Node: Nystagmus, Congenital (D020417)
..Starting node ..O'Donnell Pappas syndrome (C537858)
Child Nodes:
Sister Nodes:
..Amyotrophic Dystonic Paraplegia (C566292)
..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..Brachydactyly-Nystagmus-Cerebellar Ataxia (C566192)
..Foveal Hypoplasia, Isolated (C565005)
..Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..Mental retardation Mietens Weber type (C537444)
..Microphthalmia, Isolated, with Cataract 2 (C565876)
..Nystagmus 1, congenital, X- linked (C537853)
..Nystagmus 2, congenital, autosomal dominant (C537854)
..Nystagmus 3, congenital, autosomal dominant (C537855)
..Nystagmus 4, congenital, autosomal dominant (C537856)
..NYSTAGMUS 5, CONGENITAL, X-LINKED (OMIM:300589)
..Nystagmus 5, Infantile Periodic Alternating (C564478)
..NYSTAGMUS 6, CONGENITAL, X-LINKED (OMIM:300814)
..Nystagmus, Congenital Motor, Autosomal Recessive (C564938)
..O'Donnell Pappas syndrome (C537858)
..X-Linked Infantile Nystagmus (C580539)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8198

Name:

O'Donnell Pappas syndrome

Definition:

Alternative IDs:

OMIM:136520

ParentIDs:

MESH:D002386|MESH:D003317|MESH:D020417

TreeNumbers:

C10.292.562.675.300/C537858 |C11.204.236/C537858 |C11.270.162/C537858 |C11.510.245/C537858 |C11.590.400.300/C537858 |C16.320.290.162/C537858 |C16.614.643/C537858

Synonyms:

FOVEAL HYPOPLASIA 1 |FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT |Foveal Hypoplasia and Presenile Cataract Syndrome |Foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts |Foveal hypoplasia, prese

Slim Mappings:

Eye disease|Genetic disease (inborn)|Infant-newborn disease|Nervous system disease

Reference:

MedGen: C537858
MeSH: C537858
OMIM: 136520;

Genes: PAX6;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0006934	Congenital nystagmus
3	HP:0007750	Hypoplasia of the fovea
4	HP:0007819	Presenile cataracts
5	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_000280.4(PAX6):c.382C>T (p.Arg128Cys)	5080	PAX6	Pathogenic	121907918	RCV000003635;	N	MedGen:C1850992,OMIM:136520	11	31822380	31822380	NM_000280.4:c.382C>T	NP_000271.1:p.Arg128Cys	NC_000011.9:g.31822380G>A	OMIM Allelic Variant:607108.0012	C1850992 136520 Foveal hypoplasia and presenile cataract syndrome
NM_000280.4(PAX6):c.10+5G>C	5080	PAX6	Pathogenic	587776572	RCV000003648;	N	MedGen:C1850992,OMIM:136520	11	31827945	31827945	NM_000280.4:c.10+5G>C		11:g.31827945C>G	OMIM Allelic Variant:607108.0021	C1850992 136520 Foveal hypoplasia and presenile cataract syndrome