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Gene: Dpt MGI:1928392

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
dermatopontin
Synonyms:
1810032B19Rik,  EQ-1,  5033416F05Rik,  early quiescence protein-1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dpt mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dpt by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial ery... OMIM:603165
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Aldh18A1-Related De Barsy Syndrome
Cataract, Hyperextensible skin ORPHA:35664
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Brittle Cornea Syndrome 2
Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Decrease... OMIM:614170
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Brittle Cornea Syndrome 1
Keratoconus, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, Decreased corne... OMIM:229200
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Amyloidosis, Finnish Type
Lattice corneal dystrophy, Cutis laxa OMIM:105120
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity, Webbed neck OMIM:244600
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Elastoderma
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa ORPHA:228240
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Hyperextensible skin, Decreas... ORPHA:90354
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Increased number of skin folds, Redundant skin, Cutis laxa ORPHA:436274
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Retinitis Pigmentosa
Keratoconus, Cataract, Atypical scarring of skin ORPHA:791
Ehlers-Danlos Syndrome, Classic Type, 2
Cigarette-paper scars, Atrophic scars, Hyperextensible skin, Hernia, Soft, doughy skin, Soft skin OMIM:130010
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Redundant skin, Cutis laxa ORPHA:91135
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Cataract, Cutis laxa, Corneal arcus, Hyperextensible skin, Thin skin, Umbilical ... OMIM:219150
Rahman Syndrome
Astigmatism, Redundant skin, Camptodactyly OMIM:617537
Arthrogryposis, Distal, Type 5
Keratoconus, Keratoglobus, Astigmatism, Distal arthrogryposis, Congenital finger flexion contract... OMIM:108145
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Eczema, Dry skin, Cutis laxa OMIM:612379
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Cutis laxa, Developmental cataract, Hernia, Premature skin wrinkling, Dermal tra... OMIM:616603
Periodontal Ehlers-Danlos Syndrome
Atrophic scars, Hyperextensible skin ORPHA:75392
Renal Hypodysplasia/Aplasia 2
Redundant skin OMIM:615721
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Microcornea, Atrophic scars, Hyperextensible skin, Hernia ORPHA:300179
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Lipodystrophy, Flexion contracture, Cutis laxa, Atypical scarring of skin, Atrophic scars, Hypere... ORPHA:75496
Arterial Tortuosity Syndrome
Keratoconus, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture... OMIM:208050
Cutis Laxa, Autosomal Recessive, Type Iiib
Inguinal hernia, Cataract, Developmental glaucoma, Flexion contracture, Elbow flexion contracture... OMIM:614438
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin OMIM:301021
Geroderma Osteodysplastica
Redundant skin, Microcornea, Hyperextensible skin, Thin skin, Hernia ORPHA:2078
Vernal Keratoconjunctivitis
Scarring, Pruritus, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratit... ORPHA:70476
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Cutis laxa OMIM:614100
Leber Congenital Amaurosis 9
Keratoconus, Macular scar OMIM:608553
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Decreased corneal thickness ORPHA:293967
Warburg-Cinotti Syndrome
Symblepharon, Ankle flexion contracture, Erythema, Elbow flexion contracture, Limbal stem cell de... OMIM:618175
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Hyperextensible skin OMIM:619764
Fibrinolytic Defect
Hyperextensible skin OMIM:134900
X-Linked Ehlers-Danlos Syndrome
Inguinal hernia, Hyperextensible skin, Thin skin, Hernia, Umbilical hernia ORPHA:75497
Axenfeld-Rieger Syndrome
Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology, Redu... ORPHA:782
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Agel Amyloidosis
Cataract, Pruritus, Dry skin, Cutis laxa, Keratoconjunctivitis sicca, Lattice corneal dystrophy, ... ORPHA:85448
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Redundant skin ORPHA:1779
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Lipoatrophy, Redundant skin, Cutis laxa, Umbilical hernia, S... ORPHA:2963
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Alg8-Cdg
Cataract, Abnormality of subcutaneous fat tissue, Cutis laxa, Camptodactyly, Premature skin wrink... ORPHA:79325
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Redundant skin, Congenital diaphragmatic hernia ORPHA:171719
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hyperextensible skin OMIM:615937
Congenital Disorder Of Glycosylation, Type Iir
Cutis laxa OMIM:301045
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Atypical scarring of skin, Hyperextensible skin, Thin skin, Petechiae OMIM:225310
Costello Syndrome
Keratoconus, Abnormal dental enamel morphology, Redundant skin, Lack of skin elasticity ORPHA:3071
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis, Erythroderma OMIM:242150
Cutis Laxa, Autosomal Recessive, Type Iie
Inguinal hernia, Cutis laxa OMIM:619451
6P22 Microdeletion Syndrome
Redundant skin, Hernia ORPHA:251046
Trichothiodystrophy 8, Nonphotosensitive
Eczema, Cutis laxa OMIM:619691
De Barsy Syndrome
Inguinal hernia, Cataract, Corneal opacity, Lipodystrophy, Cutis laxa, Excessive wrinkled skin, T... ORPHA:2962
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Atypical scarring of skin, Cataract, Lack of skin elasticity ORPHA:1366
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Corneal erosion, Cutis laxa OMIM:270420
Rafiq Syndrome
Flexion contracture, Cutis laxa OMIM:614202
Weaver Syndrome
Camptodactyly of finger, Inguinal hernia, Redundant skin ORPHA:3447
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Inguinal hernia, Microcornea, Excessive wrinkled skin, Hyperextensible skin, Thin sk... OMIM:225400
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Pruritus ORPHA:411777
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, Lipodystrophy, Redundant skin, Cutis laxa, Excessive wrinkled skin OMIM:219200
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Dry skin, Scaling skin, Cutis laxa ORPHA:2269
Arterial Tortuosity Syndrome
Keratoconus, Inguinal hernia, Femoral hernia, Redundant skin, Hiatus hernia, Keratoglobus, Hypere... ORPHA:3342
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Arthrochalasia Ehlers-Danlos Syndrome
Inguinal hernia, Femoral hernia, Scarring, Abnormality of subcutaneous fat tissue, Hyperextensibl... ORPHA:1899
Immunodeficiency 49
Umbilical hernia, Psoriasiform dermatitis, Cutis laxa OMIM:617237
Ehlers-Danlos Syndrome, Periodontal Type, 2
Atypical scarring of skin, Umbilical hernia, Inguinal hernia, Hyperextensible skin OMIM:617174
Gapo Syndrome
Keratoconus, Umbilical hernia, Hyperextensible skin ORPHA:2067
Ehlers-Danlos Syndrome, Classic-Like, 2
Ventral hernia, Inguinal hernia, Redundant skin, Webbed neck, Atypical scarring of skin, Atrophic... OMIM:618000
Scarf Syndrome
Inguinal hernia, Cutis laxa, Webbed neck, Umbilical hernia, Enamel hypoplasia, Hypocalcification ... ORPHA:3134
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Redundant neck skin, Lipodystrophy, Redundant skin, Abnormal subcutaneous fat ti... ORPHA:357074
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Inguinal hernia, Atrophic scars, Hyperextensible skin, Thin skin, Soft skin OMIM:225320
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Inguinal hernia, Cutis laxa, Microcornea, Atrophic scars, Hyperextensible skin, Soft skin, Umbili... OMIM:614557
Ehlers-Danlos Syndrome, Hypermobility Type
Soft skin, Hyperextensible skin, Striae distensae OMIM:130020
Cardiac Valvular Dysplasia, X-Linked
Cutis laxa OMIM:314400
Macs Syndrome
Redundant skin, Cutis laxa, Hyperextensible skin, Soft skin, Umbilical hernia OMIM:613075
Ablepharon Macrostomia Syndrome
Omphalocele, Corneal opacity, Redundant skin, Camptodactyly of finger, Corneal erosion, Excessive... ORPHA:920
Gapo Syndrome
Keratoconus, Redundant skin, Shallow anterior chamber, Umbilical hernia, Megalocornea OMIM:230740
Man1B1-Cdg
Cutis laxa ORPHA:397941
Autosomal Dominant Cutis Laxa
Inguinal hernia, Redundant neck skin, Corneal opacity, Redundant skin, Developmental cataract, Cu... ORPHA:90348
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cutis laxa, Atrophic scars, Hyperextensible skin, Soft skin, Joint contracture, Dermal translucency OMIM:615349
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Cutis laxa OMIM:610842
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Spondylodysplastic Ehlers-Danlos Syndrome
Soft, doughy skin, Multiple joint contractures, Corneal opacity, Inguinal hernia, Posterior subca... ORPHA:536471
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Spondylo-Ocular Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Hyperextensible skin, Webbed neck, Iris hypopigmentation ORPHA:85194
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Blepharonasofacial Malformation Syndrome
Inguinal hernia, Redundant skin ORPHA:1252
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Inguinal hernia, Congenital diaphragmatic hernia, Developmental glaucoma, Elbow flexion contractu... OMIM:245600
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Redundant skin, Keratoconjunctivitis sicc... ORPHA:536532
Musculocontractural Ehlers-Danlos Syndrome
Inguinal hernia, Recurrent skin infections, Redundant skin, Atrophic scars, Astigmatism, Hyperext... ORPHA:2953
Neonatal Marfan Syndrome
Iridodonesis, Lipoatrophy, Ectopia lentis, Flexion contracture, Cutis laxa, Megalocornea ORPHA:284979
Cutis Laxa, Autosomal Recessive, Type Ia
Inguinal hernia, Redundant skin, Congenital diaphragmatic hernia, Cutis laxa, Umbilical hernia OMIM:219100
Rin2 Syndrome
Umbilical hernia, Hyperextensible skin, Redundant skin ORPHA:217335
Scarf Syndrome
Inguinal hernia, Cutis laxa, Webbed neck, Umbilical hernia, Enamel hypoplasia OMIM:312830
Short Syndrome
Posterior embryotoxon, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipod... ORPHA:3163
Angelman Syndrome
Keratoconus, Astigmatism, Iris hypopigmentation ORPHA:72
Cutis Laxa, Autosomal Recessive, Type Iib
Excessive wrinkled skin, Inguinal hernia, Redundant skin, Lack of skin elasticity OMIM:612940
Menkes Disease
Cutis laxa OMIM:309400
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hyperextensible skin, Flexion contracture, Thin skin ORPHA:157965
Craniofaciofrontodigital Syndrome
Palmoplantar cutis laxa, Premature skin wrinkling, Hernia, Cutis laxa ORPHA:363705
Ogden Syndrome
Inguinal hernia, Cutis laxa ORPHA:276432
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Inguinal hernia, Cataract, Redundant skin, Cutis laxa, Campt... OMIM:617403
Cranioectodermal Dysplasia 4
Cutis laxa OMIM:614378
Focal Facial Dermal Dysplasia Type Iii
Redundant skin ORPHA:1807
Thanatophoric Dysplasia
Redundant skin ORPHA:2655
Classic Phenylketonuria
Cataract, Eczema, Lack of skin elasticity ORPHA:79254
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Inguinal hernia, Redundant skin, Atrophic scars, Hyperextensible skin, Soft, doughy skin, Umbilic... OMIM:225410
Autosomal Recessive Cutis Laxa Type 1
Inguinal hernia, Cataract, Redundant skin, Lack of skin elasticity, Cutis laxa, Hernia ORPHA:90349
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ... ORPHA:536516
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Thanatophoric Dysplasia Type 2
Redundant skin ORPHA:93274
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Atrophic scars, Hyperextensi... OMIM:130060
Anauxetic Dysplasia 3
Cutis laxa OMIM:618853
Aarskog-Scott Syndrome
Inguinal hernia, Camptodactyly of finger, Hyperextensible skin, Umbilical hernia, Megalocornea ORPHA:915
Geroderma Osteodysplasticum
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Camptodactyly, Cutis laxa OMIM:231070
Autosomal Recessive Cutis Laxa Type 2A
Inguinal hernia, Corneal opacity, Excessive wrinkled skin, Abnormal cornea morphology, Hyperexten... ORPHA:357058
Cutis Laxa, Autosomal Dominant 1
Inguinal hernia, Redundant skin, Cutis laxa, Hyperextensible skin, Uterine prolapse OMIM:123700
Bohring-Opitz Syndrome
Flexion contracture, Camptodactyly, Cutis laxa OMIM:605039
Ehlers-Danlos Syndrome, Classic Type, 1
Inguinal hernia, Ectopia lentis, Cigarette-paper scars, Hyperextensible skin, Soft skin, Umbilica... OMIM:130000
Coffin-Lowry Syndrome
Cataract, Redundant skin ORPHA:192
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Inguinal hernia, Genital hernia, Cystocele, Atypical scarring of skin, Keratoconjunc... ORPHA:285
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Eczematoid dermatitis, Erythema, Redundant skin, Seborrheic dermatitis OMIM:259100
Macular Degeneration, Age-Related, 3
Hyperextensible skin OMIM:608895
Macrocephaly/Autism Syndrome
Cutis laxa OMIM:605309
C Syndrome
Omphalocele, Cutis laxa OMIM:211750
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Cigarette-paper scars, Hyperextensible skin, Thin skin, Webbed neck, Joi... OMIM:612350
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Peters anomaly OMIM:618652
Weaver Syndrome
Inguinal hernia, Cutis laxa, Camptodactyly, Umbilical hernia, Joint contracture of the hand OMIM:277590
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Cutis laxa OMIM:614800
Thanatophoric Dysplasia Type 1
Excessive wrinkled skin, Redundant skin ORPHA:1860
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Umbilical hernia, Inguinal hernia, Increased number of skin folds ORPHA:2505
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Umbilical hernia, Cataract, Thin skin, Cutis laxa OMIM:266920
Noonan Syndrome 8
Palmoplantar cutis laxa, Hyperextensible skin, Eczema, Webbed neck OMIM:615355
Dermatosparaxis Ehlers-Danlos Syndrome
Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarring, Hiatus hernia,... ORPHA:1901
Cardiofaciocutaneous Syndrome
Redundant skin, Excessive wrinkled skin, Hyperextensible skin, Webbed neck, Dry skin ORPHA:1340
Ehlers-Danlos Syndrome, Periodontal Type, 1
Inguinal hernia, Hiatus hernia, Atrophic scars, Hyperextensible skin, Thin skin, Palmoplantar cut... OMIM:130080
Cardiac-Valvular Ehlers-Danlos Syndrome
Inguinal hernia, Myopic astigmatism, Atrophic scars, Hyperextensible skin, Thin skin, Soft, dough... ORPHA:230851
Trichorhinophalangeal Syndrome Type 2
Redundant skin ORPHA:502
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Inguinal hernia, Redundant skin, Morgagni diaphragmatic hern... OMIM:613177
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Elbow flexion contracture, Knee flexion contracture, Cutis laxa, Thin skin, Enam... OMIM:151050
Ehlers-Danlos Syndrome, Classic-Like
Increased connective tissue, Hiatus hernia, Atrophic scars, Hyperextensible skin, Soft skin, Stri... OMIM:606408
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
X-Linked Creatine Transporter Deficiency
Redundant skin ORPHA:52503
Classical-Like Ehlers-Danlos Syndrome Type 1
Hyperextensible skin, Thin skin ORPHA:230839
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Palmoplantar cutis laxa, Redundant skin OMIM:616482
Pseudoxanthoma Elasticum
Acne, Skin rash, Pruritus, Lack of skin elasticity, Excessive wrinkled skin, Multiple lipomas, Hy... ORPHA:758
Combined Oxidative Phosphorylation Deficiency 2
Redundant neck skin OMIM:610498
Cardiofaciocutaneous Syndrome 4
Cataract, Hyperextensible skin OMIM:615280
Ogden Syndrome
Inguinal hernia, Redundant neck skin, Eczema, Redundant skin, Facial wrinkling, Cutis laxa, Minim... OMIM:300855
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Abnormal dental enamel morphology, Keratoconjunctivitis, Keratoconju... ORPHA:2363
Huriez Syndrome
Dry skin, Lack of skin elasticity ORPHA:384
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin OMIM:619003
Pseudoxanthoma Elasticum
Cutis laxa OMIM:264800
Cranioectodermal Dysplasia 3
Dry skin, Cutis laxa OMIM:614099
Alg12-Cdg
Abnormal adipose tissue morphology, Redundant skin, Camptodactyly ORPHA:79324
Loeys-Dietz Syndrome 4
Inguinal hernia, Flat cornea, Hyperextensible skin, Striae distensae OMIM:614816
Barber-Say Syndrome
Hyperextensible skin, Redundant skin ORPHA:1231
Kleefstra Syndrome Due To A Point Mutation
Umbilical hernia, Inguinal hernia, Hyperextensible skin, Developmental cataract ORPHA:261652
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Arthrogryposis multiplex congenita, Astigmatism, Corneal opacity OMIM:301056
Lamellar Ichthyosis
Pruritus, Dry skin, Lack of skin elasticity, Erythroderma ORPHA:313
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Flexion contracture, Lack of ski... ORPHA:1979
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Inguinal hernia, Cigarette-paper scars, Cystocele, Hyperextensible skin, Uterine pro... OMIM:130050
Osteogenesis Imperfecta
Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Flexion contracture, Cutis l... ORPHA:666
Barber-Say Syndrome
Lipodystrophy, Redundant skin, Premature skin wrinkling, Dry skin, Dermal translucency OMIM:209885
Antisynthetase Syndrome
Pruritus, Keratoconjunctivitis sicca, Skin rash, Lack of skin elasticity ORPHA:81
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Congenital diaphragmatic hernia, Cutis laxa, Soft skin, Dermal translucency OMIM:614437
Mandibuloacral Dysplasia With Type A Lipodystrophy
Cataract, Flexion contracture, Lack of skin elasticity, Thin skin ORPHA:90153
Noonan Syndrome 10
Palmoplantar cutis laxa, Hyperextensible skin, Prominent corneal nerve fibers, Webbed neck OMIM:616564
Recombinant 8 Syndrome
Camptodactyly of finger, Redundant skin ORPHA:96167
Specific Granule Deficiency 2
Hyperextensible skin, Amelogenesis imperfecta OMIM:617475
Emanuel Syndrome
Inguinal hernia, Redundant neck skin, Multiple joint contractures, Congenital diaphragmatic herni... ORPHA:96170
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Inguinal hernia, Hyperextensible skin, Dermal translucency OMIM:619115
Trichorhinophalangeal Syndrome, Type Ii
Inguinal hernia, Redundant skin in infancy, Cutis laxa, Astigmatism, Dry skin OMIM:150230
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Joint contracture, Lipodystrophy, Lack of skin elas... OMIM:615381
Immunodeficiency 47
Cutis laxa OMIM:300972
Lysinuric Protein Intolerance
Hyperextensible skin, Cutis laxa OMIM:222700
B4Galt1-Cdg
Inflammatory abnormality of the skin, Redundant neck skin ORPHA:79332
Ablepharon-Macrostomia Syndrome
Ventral hernia, Omphalocele, Redundant skin, Thin skin, Camptodactyly, Premature skin wrinkling, ... OMIM:200110
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Elbow flexion contractu... OMIM:608328
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Erythema, Flexion contract... OMIM:619503
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Inguinal hernia, Widened atrophic scar, Elbow flexion contracture, Microcornea, Atypical scarring... ORPHA:1900
Bone Dysplasia, Lethal Holmgren Type
Redundant neck skin, Hernia ORPHA:1842
Hydrocephalus, Congenital, 3, With Brain Anomalies
Redundant neck skin OMIM:617967
Wrinkly Skin Syndrome
Inguinal hernia, Lipodystrophy, Excessive skin wrinkling on dorsum of hands and fingers, Cutis la... ORPHA:2834
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Hyperextensible skin, Dermal translucency OMIM:619120
Vascular Ehlers-Danlos Syndrome
Keratoconus, Inguinal hernia, Redundant skin, Abnormal pupil morphology, Cigarette-paper scars, C... ORPHA:286
Cranioectodermal Dysplasia 2
Inguinal hernia, Cutis laxa OMIM:613610
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Redundant neck skin, Interphalangeal joint contracture of finger, Flexion contractur... ORPHA:96334
Diastrophic Dysplasia
Hyperextensible skin, Camptodactyly of finger ORPHA:628
Occipital Horn Syndrome
Soft skin, Hyperextensible skin, Redundant skin, Hiatus hernia OMIM:304150
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Inguinal hernia, Eczema, Astigmatism, Hyperextensible skin, Webbed neck OMIM:607721
Cutis Laxa, Autosomal Recessive, Type Iic
Knee flexion contracture, Reduced subcutaneous adipose tissue, Camptodactyly, Cutis laxa OMIM:617402
Carpenter Syndrome 2
Knee flexion contracture, Cutis laxa, Webbed neck, Umbilical hernia, Camptodactyly OMIM:614976
Papillorenal Syndrome
Soft skin, Cataract, Hyperextensible skin, Lens luxation OMIM:120330
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Microcornea, Atrophic scars, Hyperextensible skin, Thin skin, Soft, ... ORPHA:536467
Combined Oxidative Phosphorylation Deficiency 5
Redundant neck skin OMIM:611719
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Arthrogryposis multiplex congenita, Redundant neck skin OMIM:236500
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Recurrent skin infections, Scarring, Hiatus hernia, Microcornea, Atrophic scars, Hyperextensible ... OMIM:601776
Congenital Tracheomalacia
Cutis laxa ORPHA:95430
Kyphoscoliotic Ehlers-Danlos Syndrome
Inguinal hernia, Microcornea, Atypical scarring of skin, Hyperextensible skin, Thin skin, Soft, d... ORPHA:536545
Williams-Beuren Syndrome
Inguinal hernia, Flexion contracture, Blue irides, Cutis laxa, Soft skin, Umbilical hernia OMIM:194050
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Abnormal dental enamel morphology, Femoral hernia, Redundant skin ORPHA:2658
Williams Syndrome
Inguinal hernia, Flat cornea, Corneal opacity, Cataract, Redundant skin, Abnormal dental enamel m... ORPHA:904
Frank-Ter Haar Syndrome
Redundant neck skin, Acne, Developmental glaucoma, Buphthalmos, Camptodactyly, Megalocornea OMIM:249420
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Cataract, Redundant neck skin, Opacification of the corneal stroma OMIM:214100
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Redundant skin, Umbilical hernia, Premature skin wrinkling, ... OMIM:612289
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Soft skin, Atrophic scars, Hyperextensible skin OMIM:617821
Pelviscapular Dysplasia
Redundant neck skin, Elbow flexion contracture ORPHA:93333
Fountain Syndrome
Erythema, Hyperextensible skin ORPHA:3219
Zaki Syndrome
Hyperextensible skin, Congenital diaphragmatic hernia OMIM:619648
Coffin-Lowry Syndrome
Uterine prolapse, Inguinal hernia, Cutis laxa OMIM:303600
Kosaki Overgrowth Syndrome
Hyperextensible skin, Thin skin OMIM:616592
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Inguinal hernia, Redundant neck skin, Flexion contracture, Camptodactyly, Umbilical ... ORPHA:254528
Viss Syndrome
Inguinal hernia, Eczema, Atopic dermatitis, Cutis laxa, Hyperextensible skin, Umbilical hernia, C... OMIM:619472
Spinocerebellar Ataxia-Dysmorphism Syndrome
Hyperextensible skin ORPHA:1185
Fibromuscular Dysplasia, Multifocal
Soft skin, Hiatus hernia, Atrophic scars, Hyperextensible skin, Soft, doughy skin, Striae distens... OMIM:619329
Acromesomelic Dysplasia 1
Redundant skin on fingers OMIM:602875
Acrofrontofacionasal Dysostosis 2
Redundant neck skin OMIM:239710
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Camptodactyly OMIM:617360
Classical Ehlers-Danlos Syndrome
Uterine prolapse, Inguinal hernia, Hiatus hernia, Incisional hernia, Cigarette-paper scars, Abnor... ORPHA:287
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Soft, doughy skin, Hyperextensible skin, Dermal translucency ORPHA:541423
Tetrasomy 5P
Pericallosal lipoma, Redundant neck skin ORPHA:3309
Wrinkly Skin Syndrome
Inguinal hernia, Redundant skin, Neonatal wrinkled skin of hands and feet, Palmoplantar cutis lax... OMIM:278250
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Redundant skin, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:116
Shprintzen-Goldberg Craniosynostosis Syndrome
Inguinal hernia, Hyperextensible skin, Minimal subcutaneous fat, Camptodactyly, Umbilical hernia,... OMIM:182212
C Syndrome
Omphalocele, Redundant skin, Congenital diaphragmatic hernia ORPHA:1308
Noonan Syndrome With Multiple Lentigines
Excessive wrinkled skin, Hyperextensible skin, Webbed neck ORPHA:500
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Redundant neck skin, Hernia OMIM:217980
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Redundant neck skin OMIM:235255
Mend Syndrome
Redundant neck skin, Anterior polar cataract, Cataract OMIM:300960
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Redundant neck skin, Astigmatism, Eczema, Soft skin OMIM:617157
Spondylometaphyseal Dysplasia, Sedaghatian Type
Redundant skin OMIM:250220
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Soft, doughy skin, Hyperextensible skin, Flexion contracture, Ectopia lentis OMIM:271640
Menkes Disease
Inguinal hernia, Atypical scarring of skin, Hyperextensible skin, Hernia, Umbilical hernia, Dry s... ORPHA:565
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ecchymosis, Hyperextensible skin, Corneal opacity, Skin ulcer ORPHA:2072
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin ORPHA:2519
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Redundant neck skin ORPHA:1655
Shprintzen-Goldberg Syndrome
Umbilical hernia, Inguinal hernia, Hyperextensible skin, Camptodactyly of finger ORPHA:2462
Chromosome 18P Deletion Syndrome
Redundant neck skin OMIM:146390
Noonan Syndrome 2
Palmoplantar cutis laxa, Arthrogryposis multiplex congenita, Hyperextensible skin OMIM:605275
Okamoto Syndrome
Redundant neck skin, Astigmatism, Omphalocele, Webbed neck ORPHA:2729
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Redundant neck skin OMIM:123790
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Hyperextensible skin ORPHA:555877
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hyperextensible skin, Iris coloboma ORPHA:508498
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Redundant neck skin OMIM:604314
Gabriele-De Vries Syndrome
Astigmatism, Hyperextensible skin, Distal arthrogryposis ORPHA:506358
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Redundant neck skin ORPHA:397715
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Atypical scarring of skin, Hyperextensi... ORPHA:198
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Excessive wrinkled skin, Hyperextensible skin OMIM:619950
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Umbilical hernia, Redundant neck skin OMIM:618164
Down Syndrome
Brushfield spots, Redundant neck skin OMIM:190685
Yunis-Varon Syndrome
Redundant neck skin, Cataract, Sclerocornea ORPHA:3472
Lacrimoauriculodentodigital Syndrome 1
Hyperextensible skin, Conjunctivitis, Recurrent corneal erosions, Corneal perforation, Enamel hyp... OMIM:149730
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Atrophic scars, Hyperextensible skin, Flexion contracture OMIM:130070
Zttk Syndrome
Hyperextensible skin, Flexion contracture OMIM:617140
Autosomal Recessive Faciodigitogenital Syndrome
Hyperextensible skin ORPHA:1974
Costello Syndrome
Achilles tendon contracture, Redundant neck skin, Webbed neck OMIM:218040
Leprechaunism
Reduced subcutaneous adipose tissue, Hyperextensible skin ORPHA:508
Yunis-Varon Syndrome
Redundant neck skin, Cataract, Sclerocornea OMIM:216340

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dpt

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dpt.

No publications found that use IMPC mice or data for Dpt.

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MGI Allele Allele Type Produced
Dpttm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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