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Gene: Pcgf6 MGI:1918291

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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:
polycomb group ring finger 6
Synonyms:
Mel18 and Bmi1-like RING finger protein,  MBLR,  Rnf134,  4933407A11Rik

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 Pcgf6 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 Pcgf6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short ... ORPHA:1797
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Disproportionate short-trunk short sta... OMIM:608681
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... OMIM:277300
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short... ORPHA:2311
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Severe short stature, Short neck, Missing ribs, Hemivertebrae, D... OMIM:122600
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Premature birth, Abnormality of the elbow, Abnormal rib morphol... ORPHA:3268
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec... OMIM:613686
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... OMIM:173800
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Proportionate short stature, Small placenta, Abn... ORPHA:439167
Femoral-Facial Syndrome
Short femur, Short stature, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa... ORPHA:1988
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar... OMIM:609052
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Fetal akinesia sequence, Long coccyx, Ha... OMIM:156530
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Postnatal growth retardation, Large placenta, Coat hanger sign of ribs, Umbilical... ORPHA:254534
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Postnatal growth retardation, Severe postnatal growth retardation, Severe intraute... ORPHA:73272
Greenberg Dysplasia
Polyhydramnios, Beaded ribs, Hydrops fetalis, Tetraphocomelia, Hypoplastic vertebral bodies, Hypo... OMIM:215140
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Short neck, Vertebral segmentation defect, Short stature, Rhizomelia, Giant p... OMIM:611209
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Postnatal growth retardation, Short 5th finger, Polydactyly, Small placenta, Ectrodac... ORPHA:397590
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Hydrops fetalis, Knee flexion contracture, Intercrural pterygium, Camptodactyly of to... OMIM:265000
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased fetal movement, Premature birth, Rocker bottom foot, Camptodactyly of ... OMIM:208150
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal rib morp... ORPHA:1354
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Short stature, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, R... ORPHA:2990
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... ORPHA:2345
Cerebrofaciothoracic Dysplasia
Short stature, Polyhydramnios, Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defe... ORPHA:1394
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Polyhydramnios, Pectus excavatum, Large placenta, Postnatal growth ret... ORPHA:254528
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... ORPHA:1801
Achondrogenesis Type 1B
Thickened nuchal skin fold, Severe short stature, Polyhydramnios, Short neck, Short thorax, Abnor... ORPHA:93298
Schneckenbecken Dysplasia
Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro... OMIM:269250
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retardation, Proxi... ORPHA:168549
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... ORPHA:2635
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... ORPHA:1836
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... ORPHA:2790
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... OMIM:617405
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology, Abnormal ca... ORPHA:93351
Achondrogenesis Type 1A
Thickened nuchal skin fold, Multiple rib fractures, Severe short stature, Polyhydramnios, Short n... ORPHA:93299
Kagami-Ogata Syndrome
Premature birth, Kyphoscoliosis, Short neck, Coxa valga, Large placenta, Postnatal growth retarda... ORPHA:254519
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Autosomal Recessive Robinow Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... ORPHA:1507
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... OMIM:608728
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short stature, Hyperlordosis, Short neck, Kyphosis, Pectus excavatu... ORPHA:2522
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Decreased fetal movement, Premature... ORPHA:1662
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Overlapping toe, Short ... OMIM:213980
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... ORPHA:628
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Short stature, Postaxial hand polydactyly, Short th... ORPHA:474
Thanatophoric Dysplasia, Type Ii
Decreased fetal movement, Small abnormally formed scapulae, Polyhydramnios, Hypoplastic ilia, Wid... OMIM:187601
Thanatophoric Dysplasia, Type I
Champagne cork sign, Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Sm... OMIM:187600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Short stature, Short neck, Tapered finger, Multiple joint dislocation, Hi... OMIM:618395
Aicardi Syndrome
Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thumb, Postnatal growth retard... OMIM:304050
Juberg-Hayward Syndrome
Toe syndactyly, Severe short stature, Short thumb, Hypoplasia of the radius, Abnormal finger morp... ORPHA:2319
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Severe short stature, Anterior rib cupping, Hyperlordo... OMIM:184250
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnormal rib morpho... ORPHA:2876
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, ... OMIM:608940
Kbg Syndrome
Vertebral fusion, Syndactyly, Short stature, Short neck, Rib fusion, Vertebral arch anomaly, Cuta... OMIM:148050
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morphology ORPHA:261197
Mosaic Trisomy 16
Syndactyly, Premature birth, Large placenta, Abnormal thorax morphology, Short thumb, Single umbi... ORPHA:1708
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Lethal Congenital Contracture Syndrome Type 1
Short stature, Polyhydramnios, Short neck, Abnormality of the elbow, Abnormal rib morphology, Amn... ORPHA:1486
Pseudoachondroplasia
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal wid... OMIM:177170
Neu-Laxova Syndrome 1
Polyhydramnios, Short neck, Fetal akinesia sequence, Calcaneovalgus deformity, Neonatal death, Pt... OMIM:256520
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... OMIM:253000
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Short neck, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wing, S... ORPHA:96334
Cooper-Jabs Syndrome
Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib m... ORPHA:1488
Craniodiaphyseal Dysplasia
Short stature, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Polyhydramnios, Short neck, Narrow chest, Neonatal short-limb short stature, Radial bowing, Rhizo... OMIM:151210
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Short stature... OMIM:146510
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Disproportionate short-... OMIM:259440
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele ORPHA:280195
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... ORPHA:2475
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... OMIM:614524
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, Bell-shaped thorax, Short long bone... OMIM:615633
Microphthalmia, Syndromic 3
Vertebral fusion, Short stature, Missing ribs, Postnatal growth retardation, Rib fusion, Hemivert... OMIM:206900
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Polyhydramnios, Tapered finger, Increased nuchal translucency, Rib fu... ORPHA:544488
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Decreased fetal movement,... ORPHA:280
Fibrochondrogenesis 1
Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi... OMIM:228520
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Scolios... ORPHA:50
Cog1-Cdg
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga, Postnatal g... ORPHA:263508
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... OMIM:602111
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short stature, Short neck ORPHA:2578
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Abnormal rib morphology, Abnormal epiphysis morphology, Neutropenia, Intrau... ORPHA:2643
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Short stature, Kyphoscoliosis, Missing ribs,... ORPHA:97360
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Short stature, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs... OMIM:300863
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... OMIM:619636
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Intrauterine ... ORPHA:1506
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Splenomegaly, Ovoid thoracolumbar vertebrae, Scoliosis, Umbilical hernia OMIM:252900
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... ORPHA:2616
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... OMIM:218600
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Beaded ribs, T... OMIM:166210
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... ORPHA:2234
Grant Syndrome
Joint dislocation, Bowing of the long bones, Short stature, Abnormal rib morphology, Abnormal pel... ORPHA:2097
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Polyhydramnios, Beaded ribs, Short neck, Bowing of the le... OMIM:200600
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Wormian bones, U... OMIM:617952
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Polyhydramnios, Shor... OMIM:200610
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Intrauterine growth retardation, Accessory spleen, Vertebr... OMIM:194190
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short stature, Short neck, Metatarsus valgus, Kyphosis, Pos... ORPHA:3082
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ... ORPHA:1120
Cat-Eye Syndrome
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology, Short stature ORPHA:195
Mucopolysaccharidosis, Type Ivb
Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tu... OMIM:253010
Cartilage-Hair Hypoplasia
Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Neutropenia, Neonatal ... OMIM:250250
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Rocker bottom f... OMIM:275210
Mosaic Trisomy 14
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Premature birth, Polyhydramnios, Missing ribs, Abnormal rib morphology, Hemiverte... ORPHA:2759
Hypophosphatasia
Bowing of the long bones, Short stature, Craniosynostosis, Abnormal rib morphology, Narrow chest,... ORPHA:436
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Short stature, Hyperlordosis, Short neck, Kyphosis, ... ORPHA:582
Melnick-Needles Syndrome
Bowing of the long bones, Short stature, Delayed cranial suture closure, Coxa valga, Short thorax... ORPHA:2484
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... OMIM:300232
Zttk Syndrome
Short stature, Craniosynostosis, Kyphosis, Breech presentation, Rib fusion, Hemivertebrae, Small ... OMIM:617140
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Splenomegaly, Abnormal ri... ORPHA:3035
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Craniosynostosis, Split hand, Abnormal rib morphology, Oligohyd... ORPHA:2145
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pectus carinatum... ORPHA:175
Fibrochondrogenesis
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Short neck, Abnormal rib morphology... ORPHA:2021
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... ORPHA:1517
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh... ORPHA:958
Cardiospondylocarpofacial Syndrome
Decreased fetal movement, Short stature, Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Fu... OMIM:157800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short stature, Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of t... ORPHA:163966
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scolio... ORPHA:2180
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Proportionate short stature, Thin cla... OMIM:244460
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short stature, Severe short stature, Hyperlordosis, Short... OMIM:612921
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Single umbilical artery, Abnormal rib morphology, Disproportiona... ORPHA:2772
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Single umbil... ORPHA:2167
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Short stature, Scoliosis, Thin ribs OMIM:615220
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Short stature, Kyphosis, Abnormal rib morphology, ... ORPHA:2050
Cleidocranial Dysplasia
Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Short stature, Tapered finger, Abnor... ORPHA:1452
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Vertebral segmentat... ORPHA:2911
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short stature, Premature birth, Short neck, Missing ribs, Abnormality of... ORPHA:1834
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Polyhydramni... OMIM:312150
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Short stature, Ovoid vertebral bodies, Anterior rib cupping... OMIM:260400
Vacterl/Vater Association
Occipital encephalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Premature bi... ORPHA:887
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Disproportionate short... OMIM:619698
Pallister-Hall Syndrome
Hemivertebrae, Mesoaxial polydactyly, Radial bowing, Short stature, Rib fusion, Umbilical hernia,... ORPHA:672
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... ORPHA:79345
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... OMIM:253200
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Polyhydramni... OMIM:253290
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Thin clavicles,... ORPHA:93324
Trichohepatoenteric Syndrome 1
Short stature, Increased mean platelet volume, Polyhydramnios, Avascular necrosis of the capital ... OMIM:222470
Cole-Carpenter Syndrome 2
Wide cranial sutures, Short stature, Pectus excavatum, Kyphosis, Postnatal growth retardation, Th... OMIM:616294
Dysosteosclerosis
Sclerotic scapulae, Delayed closure of the anterior fontanelle, Increased intervertebral space, D... OMIM:224300
1P36 Deletion Syndrome
11 pairs of ribs, Short stature, Camptodactyly of finger, Abnormality of the spleen, Kyphosis, Ri... ORPHA:1606
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Gm1-Gangliosidosis, Type I
Thickened ribs, Severe short stature, Short neck, Splenomegaly, Kyphosis, Vacuolated lymphocytes,... OMIM:230500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Short stature OMIM:601076
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Short stature, Rhizomelia, B... OMIM:616229
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Bowing of the long bones, Syndactyly, Camptodactyly of... OMIM:249000
Bent Bone Dysplasia Syndrome 2
Thickened nuchal skin fold, Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, C... OMIM:620076
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... ORPHA:3258
Alagille Syndrome
Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral... ORPHA:52
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Kyphosis, Tibial bowing, Thin ribs, Slender long bone, Disproportionate shor... OMIM:259420
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... ORPHA:85167
Renpenning Syndrome
Severe short stature, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Growt... ORPHA:3242
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal... OMIM:252600
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Hydrops fetalis, Abnormal pelvic g... ORPHA:3378
Frontometaphyseal Dysplasia 1
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... OMIM:305620
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Sagittal craniosynostosis, Pr... ORPHA:500150
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Spin... OMIM:109400
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Short neck, Fetal akinesia sequence, Hydrops fetalis, Ol... OMIM:617022
Otopalatodigital Syndrome Type 2
Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger... ORPHA:90652
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Short stature, Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone morpho... ORPHA:3068
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Polyhydramnios, Short neck, Bowing of the legs, Splenomegaly, Short toe, Sh... OMIM:269860
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Short stature,... OMIM:613848
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Campomelia, Cumming Type
Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib... ORPHA:1318
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Hyperparathyroidism, Transient Neonatal
Wide cranial sutures, Short femur, Metaphyseal spurs, Polyhydramnios, Undulate ribs, Thin ribs, F... OMIM:618188
Schwartz-Jampel Syndrome
Polyhydramnios, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abnormally os... ORPHA:800
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydact... OMIM:613091
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... OMIM:271640
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus carinatum, Cuta... OMIM:224690
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... OMIM:607872
Acrorenal-Mandibular Syndrome
Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Oligohydramnios, Toe... OMIM:200980
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Severe short stature, Arachnodactyly, Camptodactyly o... ORPHA:2215
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... ORPHA:93317
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Thickened nuchal skin fold, Nonimmune hydrops fetalis, Polyhydramnios, Asplenia, Single umbilical... OMIM:265380
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Fused cervical vertebrae, Joint swelling, Flaring of rib cage, Broad ... OMIM:612852
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... OMIM:276820
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Polyhydramnios, Delayed epiphyseal... OMIM:114290
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn... OMIM:600920
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Thin ribs, ... OMIM:610915
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Abnormal femur morphology, Abnormal... ORPHA:666
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Beaded ribs, Bowing of ... ORPHA:89936
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Postnatal growth r... OMIM:192350
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral col... ORPHA:77301
Hurler Syndrome
Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Short neck, Splenomegaly, A... ORPHA:93473
Mosaic Trisomy 8
Short stature, Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Na... ORPHA:96061
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Radio-Renal Syndrome
Severe short stature, Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality ... ORPHA:3015
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f... ORPHA:2769
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Femoral bowin... ORPHA:83
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cort... ORPHA:488434
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Polyhydramnios, Missing ribs, Abnormal rib morphology, Aplasia/Hyp... ORPHA:3301
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Polyhydramnios, Preaxial hand polydactyl... ORPHA:261344
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral morphology, Elbow anky... ORPHA:95699
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Short stature, Protrusio aceta... OMIM:610682
Aspergillosis
Eosinophilia, Abnormal rib morphology, Abnormal long bone morphology, Abnormality of the vertebra... ORPHA:1163
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrops fetalis, Pe... OMIM:263520
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... ORPHA:2519
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... ORPHA:373
Trisomy 18
Short stature, Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Abnormal rib mo... ORPHA:3380
Beckwith-Wiedemann Syndrome
Prominent metopic ridge, Premature birth, Polyhydramnios, Splenomegaly, Large placenta, Subchorio... ORPHA:116
Pyknoachondrogenesis
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Poorly ossif... ORPHA:3003
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... ORPHA:249
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Short neck, Postnatal growth retardation, Humeroradial synostosi... ORPHA:3404
Myhre Syndrome
Brachydactyly, Severe short stature, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis m... ORPHA:2588
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Popliteal pterygium, Scol... ORPHA:1300
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Short stature, Spina bifida, Abnormality of the sple... ORPHA:991
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Splenomegaly, ... ORPHA:581
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short stature, Postaxial polydactyly, Polyhydramnios, Splenomegaly, Postaxial hand polydactyly, A... OMIM:617088
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Short neck, Polyhydramnios, Abnormal form of the vertebral bodies, F... ORPHA:818
Oculocerebrorenal Syndrome Of Lowe
Short stature, Kyphosis, Thrombocytopenia, Abnormal rib morphology, Hip dislocation, Genu valgum,... ORPHA:534
Ear-Patella-Short Stature Syndrome
Severe short stature, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow disloca... ORPHA:2554
Dextrocardia
Abnormality of the spleen, Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Craniosynostosis, Splenomegaly, Abnormal rib morphology, Growth delay, ... ORPHA:667
Monosomy 9P
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact... ORPHA:261112
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal rib morphology, Abnormal hip ... ORPHA:2907
Charge Syndrome
Short stature, Polyhydramnios, Postnatal growth retardation, Abnormal tibia morphology, Abnormal ... ORPHA:138
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Polyhydramnios, Absent radius, Short thumb, Absen... OMIM:214800
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Anemia, Short 4th metacarpal... ORPHA:2908
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... OMIM:118450
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Short stature, Preaxial hand polydactyly, Partial duplicati... ORPHA:857

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 Pcgf6

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 Pcgf6.

No publications found that use IMPC mice or data for Pcgf6.

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