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Gene: Mir92-1 MGI:3629918

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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:
microRNA 92-1
Synonyms:
Mirn92-1,  mir 92-1,  mmu-mir-92-1,  mmu-mir-92a-1

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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 Mir92-1 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 Mir92-1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Brachydactyly, Type A1, D
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short proximal phalanx of finger, Abn... OMIM:616849
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Stillbirth, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypopla... OMIM:200700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Decreased body weight, Broad metacarpals, Short metacarpal, Microcephaly, Short... OMIM:618724
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Brachydactyly, Type A1
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... OMIM:112500
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Macrocephaly, Reduced proximal interphalangeal joint space, Short distal ph... ORPHA:3246
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... OMIM:182255
Digital Arthropathy-Brachydactyly, Familial
Radial deviation of finger, Brachytelomesophalangy, Short distal phalanx of toe, Short middle pha... OMIM:606835
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Familial Digital Arthropathy-Brachydactyly
Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of... ORPHA:85169
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi... OMIM:272150
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Brachydactyly, Type A1, B
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... OMIM:607004
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Pseudoachondroplasia
Short long bone, Increased laxity of ankles, Flat acetabular roof, Hypoplastic pelvis, Metaphysea... ORPHA:750
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal OMIM:112410
Eiken Syndrome
Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Broad palm, Abnormal acetabu... ORPHA:79106
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ... OMIM:605274
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... ORPHA:93384
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Microcephaly, Absent thumb, Aplasia/Hypoplasia of the... OMIM:612447
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Brachydactyly-Arterial Hypertension Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Small epiphyses, Delayed epiphyseal ossification, Short metacar... OMIM:132400
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Acromicric Dysplasia
Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Fifth metacar... OMIM:102370
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, O... OMIM:618167
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Peripheral Dysostosis
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Short metatarsal, Flat acetabular roof, Short metacarpal, B... OMIM:615222
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Aphalangy-Syndactyly-Microcephaly Syndrome
Abnormal metacarpal morphology, Split foot, Aplasia/Hypoplasia of the distal phalanges of the toe... ORPHA:1113
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Short metacarpal, Micromelia, Microcephaly, Short palm... OMIM:180870
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Odontochondrodysplasia 1
Macrocephaly, Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the... OMIM:184260
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Single transverse palmar crease, Oligo... OMIM:201170
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Pseudoachondroplasia
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Genu... OMIM:177170
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... ORPHA:370010
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... OMIM:112450
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Macrocephaly, Short... ORPHA:93387
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Coloboma Of Macula With Type B Brachydactyly
Absent distal phalanges, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal ph... OMIM:120400
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Feingold Syndrome Type 2
Microcephaly, Short middle phalanx of finger, Short thumb, Brachydactyly, Toe syndactyly ORPHA:391646
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... OMIM:156500
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Coxa valga OMIM:132450
Microcephaly-Micromelia Syndrome
Absent radius, Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostos... OMIM:251230
Adams-Oliver Syndrome 3
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Microcephaly, Short palm, Short ... OMIM:614814
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis... OMIM:606895
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... OMIM:617102
Chromosome 8Q22.1 Duplication Syndrome
Pes cavus, Cubitus valgus, Short metatarsal, Genu recurvatum, Short metacarpal, Broad metacarpals... OMIM:151200
Desbuquois Dysplasia 2
Short long bone, Flat acetabular roof, Short metacarpal, Relative macrocephaly, Broad thumb, Micr... OMIM:615777
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Macrocephaly, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phala... OMIM:601356
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Short long... ORPHA:1106
Slc35A2-Cdg
Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Met... ORPHA:356961
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short metacarpal, Short phalanx of finger, Obesity, Brachydactyly, Intrauterine... OMIM:614613
Chromosome 15Q26-Qter Deletion Syndrome
Microcephaly, Failure to thrive, Micrognathia, Short middle phalanx of finger, Brachydactyly, Int... OMIM:612626
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Orofaciodigital Syndrome Ix
Camptodactyly, Microcephaly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Progressive microcephaly, Short ribs, Failure t... OMIM:607143
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Bent Bone Dysplasia Syndrome 2
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Short ribs, Femoral ... OMIM:620076
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Atelosteogenesis Type Ii
Sandal gap, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, E... ORPHA:56304
Microcephaly-Albinism-Digital Anomalies Syndrome
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognat... ORPHA:2513
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Flared metaphysis, Dislocated radial head, Short metacarpal, Broa... OMIM:612350
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Smith-Mccort Dysplasia 1
Genu valgum, Irregular epiphyses, Hypoplastic acetabulae, Short metacarpal, Iliac crest serration... OMIM:607326
Acromesomelic Dysplasia 1
Limited elbow extension, Hypoplasia of the radius, Broad finger, Short metatarsal, Cone-shaped ep... OMIM:602875
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Trichorhinophalangeal Syndrome, Type Iii
Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metatarsal, Short ... OMIM:190351
Pde4D Haploinsufficiency Syndrome
Short metatarsal, Upper limb undergrowth, Bilateral coxa valga, Short metacarpal, Broad metatarsa... ORPHA:439822
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Broad finger, Short phalanx of finger, Brachydactyly, Clinodactyly, Small hand OMIM:614684
Moebius Syndrome
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Sh... OMIM:157900
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... OMIM:271700
Acromesomelic Dysplasia 4
Short finger, Broad finger, Genu valgum, Rhizomelia, Short metatarsal, Sandal gap, Ulnar bowing, ... OMIM:619636
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... ORPHA:1427
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Elbow disl... ORPHA:56305
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Tibial bowing, Fo... ORPHA:314795
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Carpal bone hypoplasia, Cubitus valgus, Tapered phalanx of finger, Small epiphyses, Single interp... OMIM:611717
Sillence Syndrome
Short finger, Chess-pawn distal phalanges, Pes cavus, Large tarsal bones, Abnormal proximal phala... ORPHA:3168
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli... ORPHA:1422
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, S... OMIM:616300
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Stillbirth, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot p... OMIM:119800
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Wiedemann-Steiner Syndrome
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Microcephaly, Short phalanx of finger, Microg... OMIM:605130
Chromosome 2Q37 Deletion Syndrome
Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Short phalanx of finger, Obesity... OMIM:600430
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ... ORPHA:85167
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Keipert Syndrome
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Macrocephaly, Short hallux, Broad... ORPHA:2662
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Carpal synosto... OMIM:185800
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypoplasia of the capital femoral... OMIM:215150
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
Martsolf Syndrome 1
Talipes valgus, Slender ulna, Talipes equinovarus, Short metacarpal, Osteopathia striata, Metatar... OMIM:212720
Arthrogryposis, Distal, Type 3
Single transverse palmar crease, Ulnar deviation of the hand or of fingers of the hand, Congenita... OMIM:114300
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ... OMIM:113000
Trichorhinophalangeal Syndrome Type 1
Clinodactyly of the 5th finger, Short metatarsal, Short metacarpal, Camptodactyly of finger, Micr... ORPHA:77258
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho... OMIM:250220
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr... ORPHA:1826
Greenberg Dysplasia
Short ribs, Short long bone, Short metacarpal, Mesomelia, Hypoplastic vertebral bodies, Tetraphoc... OMIM:215140
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... OMIM:600383
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatar... OMIM:170390
Say Syndrome
Ulnar deviation of the 3rd finger, Microcephaly, Micrognathia, Short distal phalanx of finger, Ta... OMIM:181180
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Tapered finger, Microcephaly, Camptodactyly of finger, Aplasia/Hypoplasia o... ORPHA:3201
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... OMIM:602111
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... ORPHA:1988
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broad thum... ORPHA:957
Opsismodysplasia
Macrocephaly, Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Flat acet... OMIM:258480
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Tibial ... OMIM:600785
Osteoglophonic Dysplasia
Broad metacarpals, Rhizomelia, Short metatarsal, Broad palm, Short metacarpal, Broad metatarsal, ... OMIM:166250
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Acrodysostosis 1 With Or Without Hormone Resistance
Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Epi... OMIM:101800
Omodysplasia 1
Limited elbow extension, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Limited ... OMIM:258315
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Micromelia, Microcephaly, Short phalanx of finger, Brachydactyly OMIM:600092
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Dihydropyrimidinase Deficiency
Microcephaly, Short phalanx of finger, Failure to thrive, Talipes equinovarus OMIM:222748
Rhombencephalosynapsis
Polydactyly, Macrocephaly, Finger syndactyly, Short phalanx of finger, Microretrognathia, Complet... ORPHA:59315
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Tibial bowing, Microcephaly, Short distal phalanx of finger, Intrauterine... OMIM:210720
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Synostoses, Tarsal, Carpal, And Digital
Tarsal synostosis, Short metacarpal, Carpal synostosis, Metacarpophalangeal synostosis, Aplasia/H... OMIM:186400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Short tibia, Talipes equinovarus OMIM:620306
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... OMIM:208500
Tibial Hemimelia
Absent tibia OMIM:275220
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Micr... ORPHA:508533
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Codas Syndrome
Genu valgum, Proximal placement of thumb, Delayed ossification of carpal bones, Short metacarpal,... OMIM:600373
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor... OMIM:263520
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Bilateral single transverse palmar creases, Multiple carpal ossification centers, Dislocated radi... OMIM:143095
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Short metacarpal, Fl... OMIM:271665
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Rhizomelia, Short metatarsal, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalan... OMIM:266920
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Broad finger, Short phalanx of finger, Abnormal hand morphology, Small hand OMIM:300845
Cleidocranial Dysplasia 2
Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossification of carpal bon... OMIM:620099
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Short metatarsal, Sandal gap, Broad 2nd toe, Hallux valgus, Singl... OMIM:601358
Seckel Syndrome 1
Talipes, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Disloc... OMIM:210600
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Boomerang Dysplasia
Absent radius, Fibular aplasia, Neonatal death, Hypoplastic iliac body OMIM:112310
Hand-Foot-Genital Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... OMIM:140000
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... ORPHA:958
Fibrochondrogenesis 1
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Joint contracture of the hand, Rhiz... OMIM:228520
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Large knee, S... OMIM:619269
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... OMIM:164745
Rothmund-Thomson Syndrome Type 2
Finger symphalangism, Abnormal ulnar metaphysis morphology, Aplasia/hypoplasia involving bones of... ORPHA:221016
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Fibular bowing, Tibial bowing, Femoral bowing, Microcephaly, Metaphyseal chondrodysplasia, Aplasi... ORPHA:85165
Rothmund-Thomson Syndrome Type 1
Finger symphalangism, Abnormal ulnar metaphysis morphology, Patellar hypoplasia, Metaphyseal stri... ORPHA:221008
Robinow Syndrome, Autosomal Dominant 3
Macrocephaly, Camptodactyly, Broad thumb, Short phalanx of finger, Micrognathia, Mesomelia, Synda... OMIM:616894
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia... OMIM:603671
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Osteolytic defects of the distal phalanges of the hand, Short phalanx of finger,... OMIM:608612
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me... OMIM:260660
Hydrolethalus Syndrome 1
Stillbirth, Talipes equinovarus, Upper limb undergrowth, Postaxial hand polydactyly, Duplication ... OMIM:236680
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Elbow flexion contracture, Split hand, Rudiment... OMIM:200980
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Single transverse palmar crease OMIM:218550
Nance-Horan Syndrome
Broad finger, Short phalanx of finger OMIM:302350
Bartsocas-Papas Syndrome 1
Absent radius, Ulnar bowing, Absent palmar crease, Hypoplastic iliac wing, Oligodactyly, Short me... OMIM:263650
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Frank-Ter Haar Syndrome
Flared metaphysis, Short long bone, Bowing of the long bones, Camptodactyly, Bilateral talipes eq... OMIM:249420
Occipital Horn Syndrome
Abnormal fibula morphology, Humerus varus, Genu valgum, Abnormality of the wrist, Large iliac win... ORPHA:198
Campomelic Dysplasia
Fibular hypoplasia, Macrocephaly, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bon... ORPHA:140
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Macrocephaly, Inc... ORPHA:3144
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short toe, Short phalanx of finger, Micrognathia, Limb undergrowth OMIM:225410
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of femur, Macrocephaly, Metaphyseal chondromatosis of tibia, Metaphyse... ORPHA:99646
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Focal Dermal Hypoplasia
Midclavicular aplasia, Short 4th metacarpal, Short finger, Midclavicular hypoplasia, Short metata... OMIM:305600
Arteriosclerosis, Severe Juvenile
Short phalanx of finger, Hip dysplasia OMIM:208060
Orofaciodigital Syndrome Type 4
Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Preaxial hand polydactyly,... ORPHA:2753
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus ORPHA:1827
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Short ribs, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Pos... OMIM:304120
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe... ORPHA:1112
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Dislocated radial head, Single transverse palmar crease, Microce... OMIM:619297
Genitopatellar Syndrome
Knee flexion contracture, Inferior pubic ramus hypoplasia, Congenital hip dislocation, Hypoplasti... OMIM:606170
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Macrocephaly, Flexion contracture of toe, Clinodactyly of th... OMIM:300373
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad toe, Triphalangeal hallux, Shor... OMIM:218330
Pallister-Killian Syndrome
Relative macrocephaly, Edema of the dorsum of feet, Hip dislocation, Rhizomelia, Postaxial hand p... OMIM:601803
Charge Syndrome
Hypoplasia of the ulna, Absent tibia, Hand monodactyly, Bilateral talipes equinovarus, Microcepha... OMIM:214800
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Short foot, Short palm, Aplasia/Hypoplasia of th... ORPHA:3474
Craniosynostosis And Dental Anomalies
2-3 toe syndactyly, Short phalanx of finger, Broad hallux, Hallux valgus, Clinodactyly OMIM:614188
Elsahy-Waters Syndrome
Cutaneous finger syndactyly, Shortening of all phalanges of fingers, Brachydactyly OMIM:211380
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Fibular hypoplasia, Hip subluxation, Microcephaly, Micrognathia, Hypoplasia of proximal radius, O... ORPHA:444077
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Microcephaly, Cutaneous finger syndactyly, Aplasia/Hypoplasia of... OMIM:219000

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 Mir92-1

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 Mir92-1.

No publications found that use IMPC mice or data for Mir92-1.

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