Human Phenotype Ontology 
Grandparent Node:
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Abnormal elasticity of skin (HP:0010647)help
Parent Node:
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Dermal atrophy (HP:0004334)help
Parent Node:
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Lack of skin elasticity (HP:0100679)help
..Starting node
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Striae distensae (HP:0001065)help
Term ID: 1065
Name: Striae distensae
Synonym: Purplish striae; Stretch marks; Striae; Striae atrophicae; Striae cutis distensae
Definition: Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.
Comments:
Reference: HP:0001065
Genes and Diseases:
 
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InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001065HP:0001065Striae distensae0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040282 - Frequent415
HP:0001065HP:0001065Striae distensae0AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.95
HP:0001065HP:0001065Striae distensae0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0001065HP:0001065Striae distensae0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0001065HP:0001065Striae distensae0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0001065HP:0001065Striae distensae0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0001065HP:0001065Striae distensae0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent289
HP:0001065HP:0001065Striae distensae0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent373
HP:0001065HP:0001065Striae distensae0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent660
HP:0001065HP:0001065Striae distensae0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0001065HP:0001065Striae distensae0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent325
HP:0001065HP:0001065Striae distensae0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0001065HP:0001065Striae distensae0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent88
HP:0001065HP:0001065Striae distensae0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0001065HP:0001065Striae distensae0DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0001065HP:0001065Striae distensae0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040282 - Frequent151
HP:0001065HP:0001065Striae distensae0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0001065HP:0001065Striae distensae0FBN1 CL E G H22003603OMIM:604308MASS SYNDROME1361
HP:0001065HP:0001065Striae distensae0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0001065HP:0001065Striae distensae0GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia.101
HP:0001065HP:0001065Striae distensae0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0001065HP:0001065Striae distensae0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent
HP:0001065HP:0001065Striae distensae0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0001065HP:0001065Striae distensae0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0001065HP:0001065Striae distensae0PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 2.13
HP:0001065HP:0001065Striae distensae0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent13
HP:0001065HP:0001065Striae distensae0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent75
HP:0001065HP:0001065Striae distensae0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent2
HP:0001065HP:0001065Striae distensae0PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent134
HP:0001065HP:0001065Striae distensae0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0001065HP:0001065Striae distensae0PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1.134
HP:0001065HP:0001065Striae distensae0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent134
HP:0001065HP:0001065Striae distensae0SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0001065HP:0001065Striae distensae0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0001065HP:0001065Striae distensae0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0001065HP:0001065Striae distensae0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0001065HP:0001065Striae distensae0TERT CL E G H701511730ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent238
HP:0001065HP:0001065Striae distensae0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0001065HP:0001065Striae distensae0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent239
HP:0001065HP:0001065Striae distensae0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent253
HP:0001065HP:0001065Striae distensae0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0001065HP:0001065Striae distensae0TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent911
HP:0001065HP:0001065Striae distensae0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0001065HP:0001065Striae distensae0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0001065HP:0001065Striae distensae0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0001065HP:0001065Striae distensae0USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.7
HP:0001065HP:0001065Striae distensae0ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent


Genes (34) :ABCC6 AIP ARMC5 ATRX BRAF CDH23 CDKN2A COL1A1 COL5A1 COL5A2 COPB1 CTNNB1 CUL4B DLG4 ENPP1 FBN1 GNAS IPO8 NR3C1 PDE11A PDE8B PRKACA PRKAR1A SMAD2 SMAD3 SPEN TERT TGFB2 TGFBR1 TGFBR2 TP53 USP48 USP8 ZNRF3

Diseases (25) :ORPHA:758 OMIM:219090 ORPHA:189427 ORPHA:96253 ORPHA:1501 ORPHA:287 OMIM:619329 OMIM:619255 OMIM:300354 OMIM:618793 OMIM:154700 OMIM:604308 OMIM:608328 OMIM:219080 ORPHA:60030 ORPHA:1359 OMIM:610475 ORPHA:189439 OMIM:610489 OMIM:619656 ORPHA:284984 OMIM:613795 OMIM:619312 OMIM:614816 OMIM:610168
 

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