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Gene: Prmt7 MGI:2384879

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Gene Summary

Name:
protein arginine N-methyltransferase 7
Synonyms:
4933402B05Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased hemoglobin content Prmt7tm1a(EUCOMM)Wtsi HOM Early adult 1.17×10-09
decreased erythrocyte cell number Prmt7tm1a(EUCOMM)Wtsi HOM Early adult 2.05×10-10
decreased bone mineral content Prmt7tm1a(EUCOMM)Wtsi HOM   Early adult 7.36×10-05
abnormal rib morphology Prmt7tm1a(EUCOMM)Wtsi HOM Early adult 8.01×10-08
decreased hematocrit Prmt7tm1a(EUCOMM)Wtsi HOM Early adult 5.52×10-07
decreased body length Prmt7tm1a(EUCOMM)Wtsi HOM Early adult 1.23×10-05
abnormal behavior Prmt7tm1a(EUCOMM)Wtsi HOM Early adult 1.29×10-10
decreased lean body mass Prmt7tm1a(EUCOMM)Wtsi HOM Early adult 2.28×10-05

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Prmt7tm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Prmt7tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Prmt7tm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Prmt7tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Prmt7tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI

View all 146 images

Prmt7tm1a(EUCOMM)Wtsi
eye, abnormal placement of pupils, mydriasis, impaired pupillary reflex, corneal opacity, cornea/lens fusion, abnormal pupil morphology, HET, Female, WTSI
Prmt7tm1a(EUCOMM)Wtsi
eye, abnormal pupil morphology, HET, Female, WTSI
Prmt7tm1a(EUCOMM)Wtsi
eye, cornea/lens fusion, corneal opacity, HET, Female, WTSI
Prmt7tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Prmt7tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Prmt7tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Prmt7 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.

The table below shows human diseases associated to Prmt7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Obesity OMIM:617157
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288

The table below shows human diseases predicted to be associated to Prmt7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia ORPHA:46532
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morphology, Clavicular sclero... ORPHA:2790
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Pectus carinatum ORPHA:3268
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... ORPHA:232
Hypophosphatasia
Failure to thrive in infancy, Craniosynostosis, Abnormal rib morphology, Narrow chest, Anemia ORPHA:436
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm... ORPHA:848
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology ORPHA:1513
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Obesity, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ... OMIM:615633
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Narrow chest ORPHA:1801
Erythrocytosis, Familial, 2
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin OMIM:263400
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... OMIM:122860
Grant Syndrome
Abnormal cortical bone morphology, Abnormal rib morphology, Narrow chest, Sprengel anomaly, Decre... ORPHA:2097
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Anterior rib cupping, Enlargemen... OMIM:260400
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs OMIM:617405
Metatropic Dysplasia
Abnormal enchondral ossification, Abnormal rib morphology, Long thorax, Narrow chest, Abnormal co... ORPHA:2635
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal clavicle morphology, Abnormal rib morphology, Abnormal reticulocyte mo... ORPHA:2522
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Heart Defects-Limb Shortening Syndrome
Abnormal rib morphology, Narrow chest ORPHA:1354
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Thin ribs, Decreased skull ossification, Calvarial osteosclerosis... OMIM:244460
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Neutropenia ORPHA:2643
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
Mosaic Trisomy 14
Failure to thrive, Abnormal rib morphology, Narrow chest ORPHA:1703
Achondrogenesis Type 1B
Short thorax, Abnormal rib morphology, Narrow chest, Abnormal enchondral ossification ORPHA:93298
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Short ribs, Slender build, Horizontal ribs OMIM:187760
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Decreased skull ossification, Abnormal rib morphology, Narrow chest ORPHA:93267
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Flaring of lower rib cage, Cupped... ORPHA:168549
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Failure to thrive, HbH hemoglobin, Pectus carinatum ORPHA:98791
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Horizontal ribs, Bell-shaped thorax, Normochromic anemia, Neutropenia, Failure to thrive, Thrombo... OMIM:614857
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Lymphangiectasia, Intestinal
Lymphopenia, Prominent floating ribs OMIM:152800
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Neutrophilia, Failure to thrive in infancy, Splenomegaly, Periostitis, Osteolysis, Fl... OMIM:612852
Osteogenesis Imperfecta, Type Ix
Pectus excavatum, Decreased calvarial ossification, Pectus carinatum, Beaded ribs OMIM:259440
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Rib fusion OMIM:609813
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Posterior rib fusion, Abnormal rib morphology, Missing ribs ORPHA:1797
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal rib morphology, Cachexia ORPHA:93941
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Abnormal hand bone ossification, Short th... OMIM:200600
Achondrogenesis Type 1A
Multiple rib fractures, Short thorax, Narrow chest, Abnormal enchondral ossification ORPHA:93299
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Abnormal rib morphology ORPHA:2772
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Beaded ribs, Absent ossification of calvaria, Thin ribs, Bell-shaped t... OMIM:166210
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology, Cachexia ORPHA:3242
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231226
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231214
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs OMIM:173800
Fibrochondrogenesis 2
Bell-shaped thorax, Cupped ribs, Short ribs, Thoracic hypoplasia OMIM:614524
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal rib morphology, Osteoporosis, Pectus carinatum ORPHA:93351
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Sprengel anomaly, Abnormal rib morphology ORPHA:2345
Metatropic Dysplasia
Abnormal enchondral ossification, Clavicular pseudarthrosis, Cupped ribs, Short ribs, Narrow ches... OMIM:156530
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal rib morphology ORPHA:1486
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly OMIM:184400
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short thorax, Abnormal rib morphology, Osteolytic defects of the phala... ORPHA:2484
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Craniosynostosis ORPHA:2145
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Thin ribs, Cortical thickening of long bone diaphyses, Decreased skull ossificati... ORPHA:93324
Cooper-Jabs Syndrome
Reduced bone mineral density, Abnormal rib morphology, Missing ribs ORPHA:1488
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormal rib morphology, Obesity ORPHA:2234
Diastrophic Dysplasia
Abnormal clavicle morphology, Increased bone mineral density, Abnormal rib morphology ORPHA:628
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Small for gestational age, Beaded ribs, Short ribs, Decreased... OMIM:616897
Becker Nevus Syndrome
Pectus excavatum, Rib fusion, Supernumerary ribs, Pectus carinatum ORPHA:64755
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den... OMIM:617052
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Decreased calvarial ossification, Decreased body weight, Craniosynostosis, Thin ribs OMIM:618265
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Small for gestational age, Beaded ribs, Decreased calvarial o... OMIM:616229
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Abnormal rib morphology, Obesity ORPHA:2180
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Thrombocytopenia, Giant platelets, ... OMIM:611209
White Forelock With Malformations
Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Gracile Bone Dysplasia
Asplenia, Thin ribs, Decreased skull ossification, Hypoplastic spleen, Failure to thrive OMIM:602361
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Greenberg Dysplasia
Barrel-shaped chest, 11 pairs of ribs, Sternal punctate calcifications, Long clavicles, Abnormal ... OMIM:215140
Femoral-Facial Syndrome
Rib fusion, Abnormal rib morphology, Sprengel anomaly ORPHA:1988
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Abnormal rib morphology, ... ORPHA:392
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology ORPHA:2578
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs OMIM:617895
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Fibrochondrogenesis
Hypoplastic scapulae, Abnormal rib morphology, Bell-shaped thorax, Short ribs, Narrow chest, Broa... ORPHA:2021
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Overweight OMIM:619769
Septopreoptic Holoprosencephaly
Abnormal rib morphology ORPHA:280195
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Thickened ribs, Dense calvaria OMIM:252920
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Decreased skull ossification, Thin ribs OMIM:300863
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Thickened ribs, Dense calvaria OMIM:252900
Osteogenesis Imperfecta, Type X
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Thin bony cortex, Thin ribs, Decreased ca... OMIM:613848
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Abnormal rib morphology, Pectus carinatum ORPHA:3068
Hyperparathyroidism, Transient Neonatal
Osteopenia, Undulate ribs, Thin ribs, Subperiosteal bone formation, Short ribs, Narrow chest, Spl... OMIM:618188
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology OMIM:601076
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia ORPHA:99867
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Missing ribs ORPHA:2759
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Abnormal trabecular bone morphology, Splenomegaly, Osteopetrosis, Anemia OMIM:612301
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Thin ribs, Hyperostosis, Narrow chest, Abnormal bone ossification, Ge... ORPHA:73230
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Flaring of lower rib cage, Short thorax, Abnormal rib morphology, ... ORPHA:175
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal rib morphology, Pectus carinatum ORPHA:3082
Lead Poisoning
Small for gestational age, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell... ORPHA:330015
Prune Belly Syndrome
Pectus excavatum, Failure to thrive, Abnormal rib morphology ORPHA:2970
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Sclerosis of skull base, Short sternum, S... OMIM:224300
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, HbH hemoglobin ORPHA:423479
Diamond-Blackfan Anemia 1
11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistenc... OMIM:105650
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Rib fusion, Short thorax, Abnormal rib morphology ORPHA:2311
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Thin bony cortex, Osteomalacia, Fibrous dysplasia of the bones, Abn... ORPHA:249
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Small for gestational age, Thoracic hypoplasia, Large for gestational age ORPHA:254534
Cole-Carpenter Syndrome 2
Osteopenia, Pectus excavatum, Thin ribs, Lambdoidal craniosynostosis, Coronal craniosynostosis OMIM:616294
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Decreased cranial base ossification, Short ribs, Narrow chest, Thoracolumbar kyphosis,... OMIM:151210
Aspergillosis
Abnormal rib morphology, Eosinophilia, Neutropenia ORPHA:1163
Fibrochondrogenesis 1
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Thin clavicles, Thin ribs, Short ribs... OMIM:228520
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs OMIM:200610
Three M Syndrome 2
Scapular winging, Small for gestational age, Short thorax, Thin ribs, Pectus carinatum OMIM:612921
Pseudo-Torch Syndrome 2
Thrombocytopenia, Thin ribs OMIM:617397
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Delayed ossification of carpal bones, Distal ulnar epiphyseal stippling OMIM:609616
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Abnormal rib morphology, Missing ribs ORPHA:1834
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Short ribs ORPHA:1145
Gaisböck Syndrome
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Increased... ORPHA:90041
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Abnormal rib morphology, Osteoporosis, Narrow chest... ORPHA:1452
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad ribs, Increased bone mineral density, Thin bony cortex ORPHA:85184
Mucopolysaccharidosis, Type Iiic
Splenomegaly, Thickened ribs, Dense calvaria OMIM:252930
Trisomy 13
Abnormal rib morphology, Narrow chest ORPHA:3378
Mesomelic Dysplasia, Kantaputra Type
Abnormal rib morphology ORPHA:1836
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short thorax, Poorly ossified v... ORPHA:3003
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Short thorax, Abnormal rib morphology, Pectus carinatum ORPHA:582
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Generalized osteoporosis, Thin ribs OMIM:617952
Antley-Bixler Syndrome
Abnormal rib morphology, Narrow chest, Craniosynostosis ORPHA:83
Campomelia, Cumming Type
Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib morphology ORPHA:1318
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Thin ribs OMIM:614833
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Severe generalized osteoporosis, Thin ribs OMIM:259420
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Abnormal rib morphology OMIM:118100
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Delayed ossification of carpal bones, Obesity, Thin ribs OMIM:618395
Kagami-Ogata Syndrome
Bell-shaped thorax, Splenomegaly, Long clavicles, Thin ribs OMIM:608149
Spondylocostal Dysostosis 4, Autosomal Recessive
Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell-shaped thorax OMIM:613686
Spondylocostal Dysostosis 1, Autosomal Recessive
Rib fusion OMIM:277300
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Splenomegaly, Abnormal rib morphology, Reduced bone mineral density, Narrow che... ORPHA:667
3M Syndrome
Scapular winging, Short thorax, Thin ribs, Enlarged thorax, Horizontal ribs ORPHA:2616
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs ORPHA:3301
Osteogenesis Imperfecta, Type Xv
Thin ribs OMIM:615220
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Juberg-Hayward Syndrome
Abnormal rib morphology ORPHA:2319
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Missing ribs, Abnormal rib morphology, Pectus carinatum, Acute... ORPHA:2911
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Missing ribs ORPHA:1647
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Pectus excavatum, Anemia, Leukopenia, Elliptocytosis, Osteopetrosis, Failure to thr... ORPHA:2785
Mucopolysaccharidosis Type 6
Splenomegaly, Broad ribs, Failure to thrive ORPHA:583
Trisomy 1Q
Short thorax, Abnormal rib morphology ORPHA:261344
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Thin ribs, Decreased calvarial ossification, Type 1 collagen ove... OMIM:610915
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Eunuchoid habitus, Pectus excavatum, Thin ribs, Abnormal bone ossification ORPHA:2463
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Mucolipidosis Iii Alpha/Beta
Broad ribs, Short ribs, Craniosynostosis OMIM:252600
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Prominent sternum, Thoracic kyphosis, Anterior rib cupping, Thin ribs OMIM:300232
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolysis, Thin ribs, Rib osteolysis, Progressive clavicular acroosteolysis, Osteo... OMIM:614008
Eiken Syndrome
Delayed epiphyseal ossification, Delayed ossification of carpal bones, Delayed tarsal ossificatio... OMIM:600002
Sclerosteosis 1
Sclerotic scapulae, Broad clavicles, Facial palsy secondary to cranial hyperostosis, Broad ribs, ... OMIM:269500
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Thin ribs OMIM:615368
Mucopolysaccharidosis, Type Iva
Prominent sternum, Osteoporosis, Flaring of rib cage, Pectus carinatum OMIM:253000
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Thin ribs, Pectus carinatum, Sprengel anomaly ORPHA:958
Alpha-Mannosidosis, Infantile Form
Osteopenia, Pancytopenia, Thickened ribs, Craniosynostosis, Pectus excavatum, Cranial hyperostosi... ORPHA:309282
Autosomal Dominant Centronuclear Myopathy
Large for gestational age, Thin ribs ORPHA:169189
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Cupped ribs, Flat glenoid fossa, Obesity, Irregular chondrocostal junctions, Short ribs OMIM:250420
Lethal Congenital Contracture Syndrome 10
Broad ribs, Thoracic scoliosis, Hypoplasia of the thymus, Narrow chest OMIM:617022
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs ORPHA:456328
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology, Abnormal rib morphology, Aplastic clavicle, Missing ribs ORPHA:2769
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Craniosynostosis, Lateral clavicle hook, Pectus excavatum, Thin ribs, Pectus carinatu... OMIM:182212
Gm1-Gangliosidosis, Type I
Splenomegaly, Thickened ribs, Vacuolated lymphocytes OMIM:230500
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Rib fusion, Obesity, Craniosynostosis ORPHA:261197
Craniometadiaphyseal Dysplasia
Osteopenia, Broad ribs, Sclerosis of skull base OMIM:269300
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Abnormal rib morphology ORPHA:2215
Osteogenesis Imperfecta
Osteopenia, Multiple rib fractures, Small for gestational age, Pectus excavatum, Thrombocytopenia... ORPHA:666
Meier-Gorlin Syndrome 1
Absent sternal ossification, Small for gestational age, Lateral clavicle hook, Flat glenoid fossa... OMIM:224690
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Horizontal inferior border of scapula, Short thorax, Pectus carinatum, ... ORPHA:239
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal rib morphology ORPHA:1120
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs ORPHA:1394
Schwartz-Jampel Syndrome
Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion contracture, Cach... ORPHA:800
Severe Congenital Nemaline Myopathy
Abnormal thorax morphology, Thin ribs ORPHA:171430
Cenani-Lenz Syndrome
Abnormal rib morphology ORPHA:3258
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Irregular ossification of hand bones, Abnormal sternum morphology, Supern... OMIM:109400
X-Linked Hypophosphatemia
Craniosynostosis, Beaded ribs, Generalized osteosclerosis, Enlargement of the costochondral junct... ORPHA:89936
Phaver Syndrome
Abnormal rib morphology ORPHA:2876
Mucopolysaccharidosis, Type X
Broad ribs, Spatulate ribs, Broad clavicles OMIM:619698
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Splenomegaly, Short thorax, Thoracic dysplasia, Short ribs, Narrow chest, H... OMIM:269860
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs OMIM:608940
Alagille Syndrome
Failure to thrive, Abnormal rib morphology ORPHA:52
Dextrocardia
Abnormality of the spleen, Abnormal rib morphology ORPHA:1666
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Failure to thrive, Abnormal rib morphology, Narrow chest ORPHA:90652
Xylt1-Cdg
Broad ribs, Truncal obesity, Short clavicles ORPHA:370930
Brachytelephalangic Chondrodysplasia Punctata
Calcaneal epiphyseal stippling, Abnormal ossification involving the femoral head and neck, Abnorm... ORPHA:79345
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Short... OMIM:208500
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Anomalous rib insertion to vertebrae, Calcaneal epip... OMIM:117650
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Increased density of long bones, Splenopancreatic fusion, Hypoplasia of first rib... OMIM:269150
Mucopolysaccharidosis, Type Ivb
Prominent sternum, Osteoporosis, Flaring of rib cage OMIM:253010
Bent Bone Dysplasia Syndrome 2
Osteopenia, Thin ribs, Decreased calvarial ossification, Short sternum, Short ribs OMIM:620076
Van Den Ende-Gupta Syndrome
Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Lateral clavicle hook, Pectus e... OMIM:600920
Cantú Syndrome
Broad ribs, Osteoporosis, Narrow chest ORPHA:1517
Hurler Syndrome
Splenomegaly, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:93473
Ellis-Van Creveld Syndrome
Short ribs, Narrow chest, Horizontal ribs, Pectus carinatum OMIM:225500
Myotubular Myopathy With Abnormal Genital Development
Thin ribs OMIM:300219
Premature Aging Syndrome, Penttinen Type
Osteoporosis, Thin ribs, Cervical ribs, Osteolytic defects of the distal phalanges of the hand, F... OMIM:601812
Congenital Myopathy 22B, Severe Fetal
Scapular winging, Thoracic scoliosis, Shoulder flexion contracture, Pectus excavatum, Thin ribs, ... OMIM:620369
Multiple Pterygium Syndrome, X-Linked
Thin ribs OMIM:312150
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs ORPHA:163966
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Pectus excavatum, Prominent sternum, Thoracic hypoplasia, Coat hanger sign of ribs ORPHA:254528
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Elevated hemoglobin A1c, Pectus excavatum, Osteolytic defects of the phalanges of the... OMIM:619127
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Craniofacial hyperostosis, Splenomegaly, Abnormal rib morphology, R... ORPHA:581
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Short ribs, Narrow chest, Horizontal... OMIM:263520
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Craniosynostosis, Large for gestational age, Pectus excavatum, Rib fusion, Narrow chest, Bifid ri... OMIM:213980
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Large for gestational age, Pectus exc... ORPHA:96334
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Unicoronal synostosis, Bell-shaped thorax, Short ribs, Narrow chest, Horizontal ribs OMIM:616300
Cole-Carpenter Syndrome
Abnormal rib morphology ORPHA:2050
Autosomal Recessive Multiple Pterygium Syndrome
Pectus excavatum, Abnormal sternum morphology, Failure to thrive, Rib fusion ORPHA:2990
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Decreased calvarial ossification, Long thorax, Narrow chest, Short ribs, H... OMIM:617925
Mosaic Trisomy 8
Abnormal rib morphology, Narrow chest ORPHA:96061
Occipital Horn Syndrome
Broad clavicles, Pectus excavatum, Osteoporosis, Pectus carinatum, Narrow chest, Short clavicles,... OMIM:304150
Hallermann-Streiff Syndrome
Small for gestational age, Pectus excavatum, Thin ribs, Abnormal rib cage morphology, Decreased n... OMIM:234100
Acrocapitofemoral Dysplasia
Pectus excavatum, Cupped ribs, Pectus carinatum, Delayed ossification of carpal bones, Short ribs... OMIM:607778
Multiple Pterygium Syndrome, Lethal Type
Thin ribs OMIM:253290
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Short ribs, Missing ribs, Thin ribs OMIM:271520
Pontine Tegmental Cap Dysplasia
Failure to thrive, Rib fusion OMIM:614688
Vacterl/Vater Association
Abnormal rib morphology ORPHA:887
Osteopathia Striata With Cranial Sclerosis
Pectus excavatum, Craniofacial osteosclerosis, Straight clavicles, Sclerosis of skull base, Thora... OMIM:300373
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Short ribs, Horizontal ribs, Thoracic hypoplasia OMIM:613091
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Cupped ribs, Delayed proximal femoral epiphyseal ossification, Osteoporosis, Ad... OMIM:271640
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Scapular winging, Coat hanger sign of ribs, Craniosynos... OMIM:305620
Monosomy 9Q22.3
Pectus excavatum, Abnormal rib morphology, Large for gestational age ORPHA:77301
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Thrombocytopenia, Abnormal rib morphology, Failure to thrive, Anemia ORPHA:534
Kyphomelic Dysplasia
Lateral clavicle hook, Undulate ribs, Anterior rib cupping, Thoracic hypoplasia OMIM:211350
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Abnormal rib morphology, Thickened cortex of long bones ORPHA:488434
Kagami-Ogata Syndrome
Bell-shaped thorax, Coat hanger sign of ribs, Thoracic hypoplasia, Large for gestational age ORPHA:254519
Mucopolysaccharidosis, Type Iiid
Splenomegaly, Thoracic scoliosis, Thickened ribs OMIM:252940
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Large for gestational age ORPHA:544488
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal rib morphology, Narrow chest, Abnormal scapula morphology ORPHA:93317
Kindler Epidermolysis Bullosa
Abnormal rib morphology, Anemia ORPHA:2908
Trisomy 18
Abnormal rib morphology, Cachexia ORPHA:3380
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar kyphosis, Hyposegmentation of neutrophil nuclei, Thoracic hypoplasia, Horizontal ribs OMIM:618019
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Thoracic scoliosis, Absent sternal ossifica... OMIM:114290
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Cupped ribs, Horizontal inferior border of scapula, Delayed epiphyseal ossifica... OMIM:250220
Ear-Patella-Short Stature Syndrome
Craniosynostosis, Failure to thrive, Abnormal rib morphology, Aplastic clavicle ORPHA:2554
Stuve-Wiedemann Syndrome 1
Osteoporosis, Thickened cortex of long bones, Thin ribs OMIM:601559
Multiple Pterygium Syndrome, Escobar Variant
Dysplastic patella, Long clavicles, Rib fusion, Down-sloping shoulders OMIM:265000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Abnormal rib morphology, Narrow chest, Craniosynostosis ORPHA:95699
Weill-Marchesani Syndrome 1
Broad ribs, Thin bony cortex OMIM:277600
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology ORPHA:1300
Myhre Syndrome
Craniofacial hyperostosis, Abnormal rib morphology ORPHA:2588
Mucopolysaccharidosis, Type Vi
Splenomegaly, Broad ribs, Prominent sternum, Pectus carinatum OMIM:253200
Pagod Syndrome
Abnormal clavicle morphology, Abnormality of the spleen, Abnormal rib morphology ORPHA:991
Cranioectodermal Dysplasia 2
Craniosynostosis, Pectus excavatum, Splenomegaly, Short ribs, Polysplenia, Narrow chest, Horizont... OMIM:613610
Aicardi Syndrome
Rib fusion, Supernumerary ribs, Bifid ribs, Missing ribs ORPHA:50
Cog1-Cdg
Osteopenia, Rib fusion, Posterior rib gap, Hepatosplenomegaly, Failure to thrive ORPHA:263508
Radio-Renal Syndrome
Abnormal rib morphology ORPHA:3015
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Broad ribs, Obesity, Hepatosplenomegaly OMIM:301066
Lenz-Majewski Hyperostotic Dwarfism
Broad ribs, Progressive sclerosis of skull base, Failure to thrive, Broad clavicles OMIM:151050
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Long clavicles, Thin ribs, B lymphocytopenia, Coronal craniosynostosis,... ORPHA:83617
Fryns Syndrome
Large for gestational age, Thin ribs, Polysplenia, Broad ribs, Thoracic hypoplasia OMIM:229850
Aicardi Syndrome
Rib fusion, Supernumerary ribs, Bifid ribs, Missing ribs OMIM:304050
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Abnormal thorax morphology, Rib fusion, Osteoporosis, Failure to ... ORPHA:280
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Missing ribs, Narrow chest, Thin ribs OMIM:200980
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Splenomegaly, Short ribs, Narrow chest, Short clavicles, Horizontal ribs OMIM:617088
Kbg Syndrome
Cervical ribs, Rib fusion, Thoracic kyphosis OMIM:148050
Simpson-Golabi-Behmel Syndrome
Pectus excavatum, Splenomegaly, Abnormal rib morphology, Polysplenia ORPHA:373
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Pectus excavatum, Decreased calvarial ossification, Narrow chest OMIM:610682
Coccidioidomycosis
Broad ribs, Abnormality of the spleen, Osteolysis, Eosinophilia ORPHA:228123
Microphthalmia, Syndromic 3
Rib fusion, Supernumerary ribs, Missing ribs OMIM:206900
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Failure to thrive in infancy, Abnormal thorax morphology, Sclerosis... ORPHA:798
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Osteoporosis, Thin ribs OMIM:225400
Weill-Marchesani Syndrome 2
Broad ribs, Thin bony cortex OMIM:608328
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Thin clavicles, Thin ri... ORPHA:1662
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Rib fusion, Missing ribs OMIM:268310
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Rib fusion, Pectus carinatum ORPHA:1507
Smith-Lemli-Opitz Syndrome
Abnormal rib morphology ORPHA:818
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs ORPHA:85167
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Pectus excavatum, Undulate ribs, Short clavicles, Craniosynostosis OMIM:609945
Craniotubular Dysplasia, Ikegawa Type
Broad ribs, Sclerosis of skull base, Thin bony cortex OMIM:619727
Zttk Syndrome
Cervical ribs, Failure to thrive, Rib fusion, Craniosynostosis OMIM:617140
Pallister-Hall Syndrome
Rib fusion OMIM:146510
Monosomy 9P
Abnormal rib morphology ORPHA:261112
1P36 Deletion Syndrome
11 pairs of ribs, Abnormality of the spleen, Rib fusion, Obesity, Bifid ribs, Failure to thrive ORPHA:1606
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Accessory spleen, Small for gestational age, Rib fusion, Abnormal... OMIM:194190
Alagille Syndrome 1
Failure to thrive, Abnormal rib morphology OMIM:118450
Charge Syndrome
Abnormal rib morphology, Abnormality of bone mineral density ORPHA:138
Robinow Syndrome
Small for gestational age, Rib fusion, Missing ribs ORPHA:97360
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Barrel-shaped chest, Broad clavicles, Congenital pseudoarthrosis of the clavicle, Pectus carinatu... OMIM:276820
Myhre Syndrome
Broad ribs, Small for gestational age, Obesity OMIM:139210
Ulbright-Hodes Syndrome
Short sternum, Abnormal rib morphology, Short ribs, Thin ribs ORPHA:3404
Mucopolysaccharidosis Type 2, Severe Form
Splenomegaly, Thickened ribs, Hepatosplenomegaly ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Splenomegaly, Thickened ribs, Hepatosplenomegaly ORPHA:217093
Wiedemann-Rautenstrauch Syndrome
Small for gestational age, Thin ribs, Hypoplasia of the thymus, Narrow chest, Failure to thrive OMIM:264090
Baller-Gerold Syndrome
Sagittal craniosynostosis, Craniosynostosis, Rib fusion, Lambdoidal craniosynostosis, Coronal cra... OMIM:218600
Fetal Akinesia Deformation Sequence 1
Small for gestational age, Thoracic hypoplasia, Thin ribs OMIM:208150
Vater/Vacterl Association
Abnormal sternum morphology, Failure to thrive, Abnormal rib morphology OMIM:192350
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Missing ribs OMIM:134780
Charge Syndrome
Lymphopenia, Abnormal rib morphology, Down-sloping shoulders OMIM:214800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Cervical ribs, Failure to thrive in infancy, Sagittal craniosynostosis ORPHA:500150
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Rib fusion, Obesity, Bifid ribs OMIM:607872
Cardiospondylocarpofacial Syndrome
Failure to thrive, Rib fusion OMIM:157800
Townes-Brocks Syndrome
Failure to thrive, Abnormal rib morphology ORPHA:857
Pallister-Hall Syndrome
Rib fusion, Large for gestational age ORPHA:672
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Obesity OMIM:617157
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288

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 Prmt7

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 Prmt7.

There are 10 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The arginine methyltransferase PRMT7 promotes extravasation of monocytes resulting in tissue injury in COPD. Nature communications (March 2022) Prmt7tm1a(EUCOMM)Wtsi PMC8921220
PRMT7 ablation in cardiomyocytes causes cardiac hypertrophy and fibrosis through β-catenin dysregulation. Cellular and molecular life sciences : CMLS (January 2022) Prmt7tm1c(EUCOMM)Wtsi Prmt7tm1a(EUCOMM)Wtsi 35089423
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Prmt7tm1a(EUCOMM)Wtsi PMC7263671
PRMT7 deficiency causes dysregulation of the HCN channels in the CA1 pyramidal cells and impairment of social behaviors. Experimental & molecular medicine (April 2020) Prmt7tm1a(EUCOMM)Wtsi PMC7210990
Methylation determines the extracellular calcium sensitivity of the leak channel NALCN in hippocampal dentate granule cells. Experimental & molecular medicine (October 2019) Prmt7tm1a(EUCOMM)Wtsi PMC6802672
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Prmt7tm1a(EUCOMM)Wtsi PMC6671969
Prmt7 promotes myoblast differentiation via methylation of p38MAPK on arginine residue 70. Cell death and differentiation (June 2019) Prmt7tm1a(EUCOMM)Wtsi PMC7206020
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Prmt7tm1a(EUCOMM)Wtsi PMC6459510
Prmt7 Deficiency Causes Reduced Skeletal Muscle Oxidative Metabolism and Age-Related Obesity. Diabetes (April 2016) Prmt7tm1a(EUCOMM)Wtsi 27207521
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature genetics (October 2015) Prmt7tm1a(EUCOMM)Wtsi PMC5988033

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Prmt7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Prmt7tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Prmt7tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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