Pigmentary retinopathy

Symptom Information:

Symptom ID: HPO:0000580
Synonyms:
Pigmentary retinopathy [OMIM:Pigmentary retinopathy]
Pigmentary retinopathy (mixed nummular and spicular type in autosomal dominant cases) [OMIM:Pigmentary retinopathy (mixed nummular and spicular type in autosomal dominant cases)]
Pigmentary retinopathy (more common in classic disease) [OMIM:Pigmentary retinopathy (more common in classic disease)]
Pigmentary retinopathy (rare) [OMIM:Pigmentary retinopathy (rare)]
Pigmentary retinopathy (reported in 1 patient) [OMIM:Pigmentary retinopathy (reported in 1 patient)]
Pigmentary retinopathy (round, irregular clumps of pigment with little or no evidence of bone spicule formation in autosomal recessive cases) [OMIM:Pigmentary retinopathy (round, irregular clumps of pigment with little or no evidence of bone spicule formation in autosomal recessive cases)]
Pigmentary retinopathy (variable) [OMIM:Pigmentary retinopathy (variable)]
Quality:
Cross references:
OMIM: "Pigmentary retinopathy" [OMIM:Pigmentary retinopathy]
OMIM: "Pigmentary retinopathy (mixed nummular and spicular type in autosomal dominant cases)" [OMIM:Pigmentary retinopathy (mixed nummular and spicular type in autosomal dominant cases)]
OMIM: "Pigmentary retinopathy (more common in classic disease)" [OMIM:Pigmentary retinopathy (more common in classic disease)]
OMIM: "Pigmentary retinopathy (rare)" [OMIM:Pigmentary retinopathy (rare)]
OMIM: "Pigmentary retinopathy (reported in 1 patient)" [OMIM:Pigmentary retinopathy (reported in 1 patient)]
OMIM: "Pigmentary retinopathy (round, irregular clumps of pigment with little or no evidence of bone spicule formation in autosomal recessive cases)" [OMIM:Pigmentary retinopathy (round, irregular clumps of pigment with little or no evidence of bone spicule formation in autosomal recessive cases)]
OMIM: "Pigmentary retinopathy (variable)" [OMIM:Pigmentary retinopathy (variable)]
Is a (Direct Parents):
HPO         Abnormality of the retina
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Abnormality of the globe(HPO:0012374)
                Abnormality of the posterior segment of the globe(HPO:0004329)
                   Abnormality of the fundus(HPO:0001098)
                      Abnormality of the retina(HPO:0000479)
                         Pigmentary retinopathy(HPO:0000580)
MedDRA:
Database Frequency: 49 / 7739
Resource:

All diseases associated with this symptom:

ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 (OMIM:170995)
Alström syndrome (Orphanet:64)
Autosomal recessive spastic paraplegia type 15 (Orphanet:100996)
Autosomal recessive spastic paraplegia type 48 (Orphanet:306511)
CLN7 disease (Orphanet:228366)
COCKAYNE SYNDROME A (OMIM:216400)
COCKAYNE SYNDROME B (OMIM:133540)
Cholestasis - pigmentary retinopathy - cleft palate (Orphanet:1415)
Cockayne syndrome (Orphanet:191)
Glutathione synthetase deficiency with 5-oxoprolinuria (Orphanet:289846)
Isolated cytochrome C oxidase deficiency (Orphanet:254905)
Isolated succinate-CoQ reductase deficiency (Orphanet:3208)
Joubert syndrome 3 (OMIM:608629)
Joubert syndrome with ocular defect (Orphanet:220493)
Kearns-Sayre syndrome (Orphanet:480)
Laurence-Moon syndrome (Orphanet:2377)
Leber congenital amaurosis 1 (OMIM:204000)
Leber congenital amaurosis 15 (OMIM:613843)
Leber congenital amaurosis 2 (OMIM:204100)
Leigh syndrome (Orphanet:506)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Orphanet:5)
MELAS (Orphanet:550)
MICROPHTHALMIA, SYNDROMIC 7 (OMIM:309801)
MRCS syndrome (Orphanet:263347)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 (OMIM:613156)
Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mitochondrial trifunctional protein deficiency (Orphanet:746)
Mulibrey nanism (Orphanet:2576)
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATIONSYNDROME (OMIM:606721)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Pantothenate kinase-associated neurodegeneration (Orphanet:157850)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
RETINITIS PIGMENTOSA 2 (OMIM:312600)
RETINITIS PIGMENTOSA 37 (OMIM:611131)
RETINITIS PIGMENTOSA 4 (OMIM:613731)
RETINITIS PIGMENTOSA 43 (OMIM:613810)
RETINITIS PIGMENTOSA 6 (OMIM:312612)
RETINITIS PIGMENTOSA 69 (OMIM:615780)
RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE (OMIM:268060)
Ramon syndrome (Orphanet:3019)
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism (Orphanet:3085)
Sporadic Leigh syndrome (Orphanet:255199)
Wolfram syndrome 1 (OMIM:222300)
Xeroderma pigmentosum complementation group B (Orphanet:276252)
Zellweger syndrome (Orphanet:912)