Human Phenotype Ontology 
Grandparent Node:
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Aplasia/Hypoplasia of the skin (HP:0008065)help
Parent Node:
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Atypical scarring of skin (HP:0000987)help
Parent Node:
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Dermal atrophy (HP:0004334)help
..Starting node
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Atrophic scars (HP:0001075)help
Term ID: 1075
Name: Atrophic scars
Synonym: Sunken or indented skin due to damage; Thin, atrophic scars
Definition: Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.
Comments:
Reference: HP:0001075
Genes and Diseases:
 
       Child Nodes:
........expandCigarette-paper scars (HP:0001073) help
........expandWidened atrophic scar (HP:0031158) help

 Sister Nodes: 
..expandDiffuse skin atrophy (HP:0007488) help
..expandStriae distensae (HP:0001065) 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:0001075HP:0001075Atrophic scars0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0001075HP:0001075Atrophic scars0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0001075HP:0001075Atrophic scars0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0001075HP:0001075Atrophic scars0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0001075HP:0001075Atrophic scars0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent29
HP:0001075HP:0001075Atrophic scars0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0001075HP:0001075Atrophic scars0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0001075HP:0001075Atrophic scars0C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040281 - Very frequent15
HP:0001075HP:0001075Atrophic scars0C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040281 - Very frequent7
HP:0001075HP:0001075Atrophic scars0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0001075HP:0001075Atrophic scars0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0001075HP:0001075Atrophic scars0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0001075HP:0001075Atrophic scars0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0001075HP:0001075Atrophic scars0COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0001075HP:0001075Atrophic scars0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent129
HP:0001075HP:0001075Atrophic scars0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent373
HP:0001075HP:0001075Atrophic scars0COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1.373
HP:0001075HP:0001075Atrophic scars0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0001075HP:0001075Atrophic scars0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2HP:0040284 - Very rare243
HP:0001075HP:0001075Atrophic scars0COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form.243
HP:0001075HP:0001075Atrophic scars0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0001075HP:0001075Atrophic scars0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome.749
HP:0001075HP:0001075Atrophic scars0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0001075HP:0001075Atrophic scars0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent660
HP:0001075HP:0001075Atrophic scars0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0001075HP:0001075Atrophic scars0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0001075HP:0001075Atrophic scars0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent325
HP:0001075HP:0001075Atrophic scars0COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0001075HP:0001075Atrophic scars0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0001075HP:0001075Atrophic scars0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0001075HP:0001075Atrophic scars0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0001075HP:0001075Atrophic scars0COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosaHP:0040283 - Occasional263
HP:0001075HP:0001075Atrophic scars0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040281 - Very frequent263
HP:0001075HP:0001075Atrophic scars0COL7A1 CL E G H12942214ORPHA:89843Dystrophic epidermolysis bullosa pruriginosaHP:0040283 - Occasional263
HP:0001075HP:0001075Atrophic scars0COL7A1 CL E G H12942214OMIM:131750Epidermolysis bullosa dystrophica, autosomal dominant.263
HP:0001075HP:0001075Atrophic scars0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0001075HP:0001075Atrophic scars0COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040282 - Frequent263
HP:0001075HP:0001075Atrophic scars0COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversaHP:0040282 - Frequent263
HP:0001075HP:0001075Atrophic scars0COL7A1 CL E G H12942214ORPHA:79411Self-improving dystrophic epidermolysis bullosaHP:0040282 - Frequent263
HP:0001075HP:0001075Atrophic scars0COL7A1 CL E G H12942214OMIM:131705Transient bullous dermolysis of the newborn.263
HP:0001075HP:0001075Atrophic scars0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0001075HP:0001075Atrophic scars0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0001075HP:0001075Atrophic scars0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040282 - Frequent13
HP:0001075HP:0001075Atrophic scars0ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional124
HP:0001075HP:0001075Atrophic scars0ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.124
HP:0001075HP:0001075Atrophic scars0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent124
HP:0001075HP:0001075Atrophic scars0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent110
HP:0001075HP:0001075Atrophic scars0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0001075HP:0001075Atrophic scars0KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara typeHP:0040283 - Occasional110
HP:0001075HP:0001075Atrophic scars0KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplexHP:0040284 - Very rare110
HP:0001075HP:0001075Atrophic scars0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent173
HP:0001075HP:0001075Atrophic scars0KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara typeHP:0040283 - Occasional173
HP:0001075HP:0001075Atrophic scars0KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplexHP:0040284 - Very rare173
HP:0001075HP:0001075Atrophic scars0LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.116
HP:0001075HP:0001075Atrophic scars0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:0001075HP:0001075Atrophic scars0LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.167
HP:0001075HP:0001075Atrophic scars0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:0001075HP:0001075Atrophic scars0LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.135
HP:0001075HP:0001075Atrophic scars0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:0001075HP:0001075Atrophic scars0LRP1 CL E G H40356692ORPHA:79100Atrophoderma vermiculataHP:0040281 - Very frequent4
HP:0001075HP:0001075Atrophic scars0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040281 - Very frequent6
HP:0001075HP:0001075Atrophic scars0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0001075HP:0001075Atrophic scars0PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional759
HP:0001075HP:0001075Atrophic scars0PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.759
HP:0001075HP:0001075Atrophic scars0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040282 - Frequent105
HP:0001075HP:0001075Atrophic scars0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0001075HP:0001075Atrophic scars0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0001075HP:0031158Widened atrophic scar1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040281 - Very frequent
HP:0001075HP:0001073Cigarette-paper scars1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040283 - Occasional65
HP:0001075HP:0001073Cigarette-paper scars1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent373
HP:0001075HP:0001073Cigarette-paper scars1COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type.749
HP:0001075HP:0001073Cigarette-paper scars1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0001075HP:0001073Cigarette-paper scars1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent660
HP:0001075HP:0001073Cigarette-paper scars1COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0001075HP:0001073Cigarette-paper scars1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040281 - Very frequent325
HP:0001075HP:0001073Cigarette-paper scars1COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0001075HP:0001073Cigarette-paper scars1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040283 - Occasional442
HP:0001075HP:0001073Cigarette-paper scars1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040283 - Occasional478
HP:0001075HP:0001073Cigarette-paper scars1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040283 - Occasional702
HP:0001075HP:0001073Cigarette-paper scars1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040283 - Occasional50
HP:0001075HP:0031158Widened atrophic scar1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0001075HP:0001073Cigarette-paper scars1SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324


Genes (34) :ADA2 AEBP1 B3GALT6 B4GALT7 C1R C1S CARMIL2 CHST14 COL12A1 COL17A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 CTSC DSE FKBP14 ITGB4 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LRP1 MMP1 PLEC PLOD1 SLC39A13 SMAD3

Diseases (47) :OMIM:182410 ORPHA:536532 OMIM:618000 ORPHA:536467 ORPHA:75496 OMIM:130070 OMIM:130080 ORPHA:75392 OMIM:618131 OMIM:601776 ORPHA:2953 ORPHA:610 OMIM:616471 ORPHA:79402 ORPHA:287 OMIM:130060 ORPHA:230851 OMIM:617821 OMIM:225320 OMIM:130050 OMIM:618343 ORPHA:286 OMIM:130000 OMIM:619329 OMIM:130010 ORPHA:231568 ORPHA:79408 ORPHA:89843 OMIM:131750 OMIM:226600 ORPHA:79410 ORPHA:79409 ORPHA:79411 OMIM:131705 ORPHA:678 ORPHA:300179 ORPHA:158684 OMIM:226730 ORPHA:79396 ORPHA:89838 OMIM:131760 ORPHA:79400 OMIM:226700 ORPHA:79100 ORPHA:1900 OMIM:612350 OMIM:613795
 

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