Human Phenotype Ontology 
Grandparent Node:
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Abnormal fundus morphology (HP:0001098)help
Parent Node:
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Abnormal retinal morphology (HP:0000479)help
..Starting node
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Angioid streaks of the fundus (HP:0001102)help
Term ID: 1102
Name: Angioid streaks of the fundus
Synonym: Angioid streaks; Angioid streaks of the retina; Angioid streaks, retina; Knapp streaks; Laquer cracks of the retina
Definition: Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic.
Comments:
Reference: HP:0001102
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal chorioretinal morphology (HP:0000532) help
..expandAbnormal macular morphology (HP:0001103) help
..expandAbnormal retinal vascular morphology (HP:0008046) help
..expandAbnormality of retinal pigmentation (HP:0007703) help
..expandAplasia/Hypoplasia of the retina (HP:0008061) help
..expandHypermyelinated retinal nerve fibers (HP:0007922) help
..expandIntraretinal fluid (HP:0031527) help
..expandRetinal coloboma (HP:0000480) help
..expandRetinal degeneration (HP:0000546) help
..expandRetinal detachment (HP:0000541) help
..expandRetinal dysplasia (HP:0007973) help
..expandRetinal dystrophy (HP:0000556) help
..expandRetinal fold (HP:0008052) help
..expandRetinal hamartoma (HP:0009594) help
..expandRetinal hemorrhage (HP:0000573) help
..expandRetinal infarction (HP:0007866) help
..expandRetinal neoplasm (HP:0012777) help
..expandRetinal perforation (HP:0011958) help
..expandRetinal thinning (HP:0030329) help
..expandRetinopathy (HP:0000488) help
..expandRetinoschisis (HP:0030502) help
..expandSub-RPE deposits (HP:0031531) help
..expandSubretinal deposits (HP:0031528) help
..expandSubretinal fluid (HP:0031526) help
..expandYellow/white lesions of the retina (HP:0030506) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001102HP:0001102Angioid streaks of the fundus0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare415
HP:0001102HP:0001102Angioid streaks of the fundus0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040281 - Very frequent415
HP:0001102HP:0001102Angioid streaks of the fundus0ABCC6 CL E G H36857OMIM:177850Pseudoxanthoma elasticum, forme fruste.415
HP:0001102HP:0001102Angioid streaks of the fundus0ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0001102HP:0001102Angioid streaks of the fundus0AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0001102HP:0001102Angioid streaks of the fundus0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare151
HP:0001102HP:0001102Angioid streaks of the fundus0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040281 - Very frequent151
HP:0001102HP:0001102Angioid streaks of the fundus0GALNT3 CL E G H25914125OMIM:211900Tumoral calcinosis, hyperphosphatemic, familial, 1.46
HP:0001102HP:0001102Angioid streaks of the fundus0GGCX CL E G H26774247ORPHA:91135Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiencyHP:0040282 - Frequent129
HP:0001102HP:0001102Angioid streaks of the fundus0GGCX CL E G H26774247OMIM:610842PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY129
HP:0001102HP:0001102Angioid streaks of the fundus0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5.162
HP:0001102HP:0001102Angioid streaks of the fundus0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0001102HP:0001102Angioid streaks of the fundus0TNFRSF11B CL E G H498211909OMIM:239000Paget disease of bone 5, juvenile-onset.44
HP:0001102HP:0001102Angioid streaks of the fundus0XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0001102HP:0001102Angioid streaks of the fundus0XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5


Genes (10) :ABCC6 AKT1 ENPP1 GALNT3 GGCX PIK3CA PTEN TNFRSF11B XYLT1 XYLT2

Diseases (11) :ORPHA:51608 ORPHA:758 OMIM:177850 OMIM:264800 OMIM:615109 OMIM:211900 ORPHA:91135 OMIM:610842 OMIM:615108 OMIM:158350 OMIM:239000
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.