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Gene: Pnpt1 MGI:1918951

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Gene Summary

Name:
polyribonucleotide nucleotidyltransferase 1
Synonyms:
PNPase,  polynucleotide phosphorylase,  1200003F12Rik

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
increased mean corpuscular volume Pnpt1tm1a(KOMP)Wtsi HET Early adult 1.06×10-11
decreased circulating HDL cholesterol level Pnpt1tm1a(KOMP)Wtsi HET Early adult 1.72×10-05
abnormal gait Pnpt1tm1a(KOMP)Wtsi HET   Early adult 6.53×10-05
increased mean corpuscular hemoglobin Pnpt1tm1a(KOMP)Wtsi HET Early adult 5.14×10-07
abnormal rib morphology Pnpt1tm1a(KOMP)Wtsi HET Early adult 2.53×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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 0.0% (0 of 2)
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 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 50% (1 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 50% (1 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 Ambiguous
Thyroid gland N/A heterozygote 50% (1 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
Pnpt1tm1a(KOMP)Wtsi
WT, Female, WTSI
Pnpt1tm1a(KOMP)Wtsi
WT, Female, WTSI
Pnpt1tm1a(KOMP)Wtsi
head, HET, Male, WTSI
Pnpt1tm1a(KOMP)Wtsi
body, HET, Male, WTSI
Pnpt1tm1a(KOMP)Wtsi
head, HET, Male, WTSI

View all 148 images

Pnpt1tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Pnpt1tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Pnpt1tm1a(KOMP)Wtsi
back skin, HET, Female, WTSI
Pnpt1tm1a(KOMP)Wtsi
back skin, WT, Female, WTSI
Pnpt1tm1a(KOMP)Wtsi
back skin, WT, Female, WTSI

Human diseases caused by Pnpt1 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 Pnpt1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia Type 25
Progressive cerebellar ataxia, Gait ataxia ORPHA:101111
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis OMIM:614932
Spinocerebellar Ataxia 25
Ataxia OMIM:608703
Combined Oxidative Phosphorylation Defect Type 13
Choreoathetosis ORPHA:319514
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
OMIM:614934

The table below shows human diseases predicted to be associated to Pnpt1 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
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
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
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... ORPHA:98870
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... OMIM:616860
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... OMIM:617021
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... OMIM:615558
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... OMIM:277410
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Pectus carinatum ORPHA:3268
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... ORPHA:2169
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... ORPHA:300298
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diamond-Blackfan Anemia 7
Sprengel anomaly, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro... OMIM:127550
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs OMIM:617405
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Narrow chest ORPHA:1801
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs OMIM:615633
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Hypophosphatasia
Hypercalcemia, Abnormal rib morphology, Narrow chest, Anemia ORPHA:436
Diamond-Blackfan Anemia 1
11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistenc... OMIM:105650
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th... ORPHA:848
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Heart Defects-Limb Shortening Syndrome
Abnormal rib morphology, Narrow chest ORPHA:1354
Lymphangiectasia, Intestinal
Lymphopenia, Prominent floating ribs, Neonatal hypoproteinemia OMIM:152800
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal rib morphology ORPHA:2790
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Acanthocytosis,... ORPHA:96180
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal clavicle morphology, Abnormal rib morphology, Abnormal reticulocyte mo... ORPHA:2522
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Anterior rib cupping, Enlargement of the costochondral junc... OMIM:260400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Pectus excavatum, Leukocytosis, Hepatosplenomega... OMIM:618278
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Neutropenia ORPHA:2643
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Horizontal ribs, Hyperhomocystinemia, Bell-shaped thor... OMIM:614857
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Short ribs, Horizontal ribs, Irregular chondrocostal junctions OMIM:187760
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Thin ribs, Hypocalcemia, Hypomagnesemia, Anemia OMIM:244460
Chylomicron Retention Disease
Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea, Acanthocytosis ORPHA:71
Grant Syndrome
Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest ORPHA:2097
Peroxisome Biogenesis Disorder 3B
Ataxia, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Posterior rib fusion, Abnormal rib morphology, Missing ribs ORPHA:1797
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia OMIM:617101
Mosaic Trisomy 14
Abnormal rib morphology, Narrow chest ORPHA:1703
Abetalipoproteinemia
Reticulocytosis, Decreased HDL cholesterol concentration, Broad-based gait, Ataxia, Acanthocytosi... ORPHA:14
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Narrow chest ORPHA:93267
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Flaring of lower rib cage, Cupped ribs, Defor... ORPHA:168549
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal rib morphology, Gait disturbance, Pectus carinatum ORPHA:93351
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly OMIM:184400
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs OMIM:173800
Metatropic Dysplasia
Long thorax, Abnormal rib morphology, Narrow chest ORPHA:2635
Fibrochondrogenesis 2
Bell-shaped thorax, Cupped ribs, Short ribs, Thoracic hypoplasia OMIM:614524
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Achondrogenesis Type 1B
Short thorax, Abnormal rib morphology, Narrow chest ORPHA:93298
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin, Pectus carinatum ORPHA:98791
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Osteogenesis Imperfecta, Type Ix
Pectus excavatum, Pectus carinatum, Beaded ribs OMIM:259440
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Sprengel anomaly, Abnormal rib morphology ORPHA:2345
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Hypocholesterolemia, Steatorrhea OMIM:607765
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs OMIM:122860
Becker Nevus Syndrome
Pectus excavatum, Rib fusion, Supernumerary ribs, Pectus carinatum ORPHA:64755
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... ORPHA:160
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Abnormal rib morphology ORPHA:3242
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal rib morphology ORPHA:93941
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion OMIM:609813
White Forelock With Malformations
Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... ORPHA:97214
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology ORPHA:2578
Achondrogenesis Type 1A
Multiple rib fractures, Short thorax, Narrow chest ORPHA:93299
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs OMIM:617895
Fibrochondrogenesis
Hypoplastic scapulae, Abnormal rib morphology, Bell-shaped thorax, Short ribs, Narrow chest, Broa... ORPHA:2021
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Abnormal rib morphology, ... ORPHA:392
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Femoral-Facial Syndrome
Rib fusion, Abnormal rib morphology, Sprengel anomaly ORPHA:1988
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia ORPHA:31150
Metatropic Dysplasia
Clavicular pseudarthrosis, Cupped ribs, Short ribs, Narrow chest, Flaring of rib cage OMIM:156530
Septopreoptic Holoprosencephaly
Abnormal rib morphology ORPHA:280195
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Thin ribs, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Short thorax, Bell-shaped thorax, Narrow ... OMIM:200600
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology OMIM:601076
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Short ribs, Mildly elevated creatine kinase ORPHA:1145
Osteogenesis Imperfecta, Type Ii
Bell-shaped thorax, Thin ribs, Thoracic hypoplasia, Beaded ribs OMIM:166210
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology ORPHA:2145
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Missing ribs ORPHA:2759
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Dysmetria, Hypoalbuminemia, Steatorrhea, Thrombocytosis, Hypocholesterolemia OMIM:212065
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Abnormal rib morphology ORPHA:2180
Diastrophic Dysplasia
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:628
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Flaring of rib... OMIM:612852
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal rib morphology, Pectus carinatum ORPHA:3082
Autosomal Dominant Centronuclear Myopathy
Mildly elevated creatine kinase, Difficulty walking, Thin ribs ORPHA:169189
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Rib fusion, Short thorax, Abnormal rib morphology ORPHA:2311
Cooper-Jabs Syndrome
Abnormal rib morphology, Missing ribs ORPHA:1488
Mucopolysaccharidosis Type 4
Short thorax, Abnormal rib morphology, Gait disturbance, Pectus carinatum ORPHA:582
Fibrochondrogenesis 1
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Thin clavicles, Thin ribs, Short ribs... OMIM:228520
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology ORPHA:2234
Mesomelic Dysplasia, Kantaputra Type
Abnormal rib morphology ORPHA:1836
Lethal Congenital Contracture Syndrome Type 1
Abnormal rib morphology ORPHA:1486
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short ribs, Thoracic hypoplasia, Beaded ribs OMIM:616897
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Ataxia, Anterior rib cupping, Thin ribs, Prominent sternum, Thoracic kyphosis OMIM:300232
Lead Poisoning
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... ORPHA:330015
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Osteogenesis Imperfecta, Type Xv
Thin ribs OMIM:615220
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia, Thin ribs OMIM:602361
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Thrombocytopenia, Giant platelets, Rib fusion, Posterior rib gap, Anemia OMIM:611209
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Abnormal rib morphology ORPHA:3035
Prune Belly Syndrome
Pectus excavatum, Abnormal rib morphology ORPHA:2970
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Abnormal rib morphology, Missing ribs ORPHA:1834
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Abnormal rib morphology OMIM:118100
Trisomy 13
Abnormal rib morphology, Narrow chest ORPHA:3378
Melnick-Needles Syndrome
Short thorax, Abnormal rib morphology, Narrow chest, Short clavicles ORPHA:2484
Aspergillosis
Abnormal rib morphology, Eosinophilia, Neutropenia ORPHA:1163
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal rib morphology, Pectus carinatum ORPHA:3068
Spondylocostal Dysostosis 4, Autosomal Recessive
Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell-shaped thorax OMIM:613686
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Horizontal inferior border of scapula, Inability to walk, Short thorax,... ORPHA:239
Spondylocostal Dysostosis 1, Autosomal Recessive
Rib fusion OMIM:277300
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Thin ribs OMIM:300863
Three M Syndrome 2
Thin ribs, Scapular winging, Short thorax, Pectus carinatum OMIM:612921
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
3M Syndrome
Scapular winging, Short thorax, Thin ribs, Enlarged thorax, Horizontal ribs ORPHA:2616
Alg12-Cdg
Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia ORPHA:79324
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Thickened ribs OMIM:252920
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Short ribs, Narrow chest, Thoracolumbar kyphosis, Thoracic hypoplasia OMIM:151210
Juberg-Hayward Syndrome
Abnormal rib morphology ORPHA:2319
Kagami-Ogata Syndrome
Bell-shaped thorax, Splenomegaly, Long clavicles, Thin ribs OMIM:608149
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Thickened ribs OMIM:252900
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Cartilage-Hair Hypoplasia
Flaring of lower rib cage, Short thorax, Abnormal rib morphology, Pectus carinatum, Narrow chest,... ORPHA:175
Pseudo-Torch Syndrome 2
Thrombocytopenia, Thin ribs OMIM:617397
Lethal Congenital Contracture Syndrome 5
Elevated circulating creatine kinase concentration, Thin ribs OMIM:615368
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Missing ribs ORPHA:1647
Hyperparathyroidism, Transient Neonatal
Undulate ribs, Thin ribs, Short ribs, Narrow chest, Splenic cyst, Fractured rib OMIM:618188
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Antalgic gait, Hypercalcemia, Abnormal rib morphology, Increased ci... ORPHA:249
Achondrogenesis, Type Ii
Barrel-shaped chest, Short ribs, Horizontal ribs OMIM:200610
Mucolipidosis Iii Alpha/Beta
Broad ribs, Increased serum beta-hexosaminidase, Short ribs OMIM:252600
Greenberg Dysplasia
Barrel-shaped chest, 11 pairs of ribs, Sternal punctate calcifications, Long clavicles, Abnormal ... OMIM:215140
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Thin ribs, Narrow chest, Broad ribs, Thoracic hypoplasia OMIM:613848
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Thin ribs OMIM:253290
Mucopolysaccharidosis, Type Iva
Waddling gait, Prominent sternum, Flaring of rib cage, Pectus carinatum OMIM:253000
Kaufman Oculocerebrofacial Syndrome
Bell-shaped thorax, Hypocholesterolemia OMIM:244450
Pontine Tegmental Cap Dysplasia
Ataxia, Rib fusion, Dysmetria OMIM:614688
Trisomy 1Q
Short thorax, Abnormal rib morphology ORPHA:261344
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs ORPHA:456328
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Abnormal circulating creatine kinase concentration, Abnormal rib morphology ORPHA:2215
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Abnormal rib morphology, Narrow chest, Short clavicles ORPHA:1452
Congenital Myopathy 22B, Severe Fetal
Waddling gait, Scapular winging, Thoracic scoliosis, Shoulder flexion contracture, Pectus excavat... OMIM:620369
Osteogenesis Imperfecta, Type Xvi
Multiple rib fractures, Narrow chest, Beaded ribs OMIM:616229
Antley-Bixler Syndrome
Abnormal rib morphology, Narrow chest ORPHA:83
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Thin ribs, Pectus carinatum, Sprengel anomaly ORPHA:958
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... ORPHA:90363
Dysosteosclerosis
Sclerotic scapulae, Short sternum, Short ribs, Narrow chest, Broad ribs, Clavicular sclerosis OMIM:224300
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs OMIM:614833
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Multiple rib fractures, Hypocalcemic seizures, Anemia OMIM:612301
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs ORPHA:1394
Mucopolysaccharidosis, Type Iiic
Splenomegaly, Thickened ribs OMIM:252930
Mucopolysaccharidosis, Type X
Broad ribs, Spatulate ribs, Broad clavicles OMIM:619698
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs OMIM:609616
Severe Congenital Nemaline Myopathy
Abnormal thorax morphology, Thin ribs ORPHA:171430
Lethal Congenital Contracture Syndrome 10
Broad ribs, Thoracic scoliosis, Hypoplasia of the thymus, Narrow chest OMIM:617022
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs OMIM:618265
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal rib morphology ORPHA:1120
Phaver Syndrome
Abnormal rib morphology ORPHA:2876
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormal rib morphology ORPHA:1318
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Missing ribs, Abnormal rib morphology, Pectus carinatum, Acute... ORPHA:2911
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Missing ribs ORPHA:3301
Cenani-Lenz Syndrome
Abnormal rib morphology ORPHA:3258
Dubowitz Syndrome
Acute lymphoblastic leukemia, Aplastic anemia, Hypocholesterolemia OMIM:223370
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs OMIM:608940
Gm1-Gangliosidosis, Type I
Splenomegaly, Thickened ribs, Vacuolated lymphocytes OMIM:230500
Cole-Carpenter Syndrome 2
Pectus excavatum, Thin ribs OMIM:616294
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Conjugated hyperbilirubinemia, Thoracic dysplasia, Short ribs, Narrow ches... OMIM:208500
Familial Osteodysplasia, Anderson Type
Abnormal rib morphology, Hyperuricemia, Aplastic clavicle, Missing ribs ORPHA:2769
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Abnormal rib morphology, Hypocalcemia, Narrow chest, Hypophosphatemia, Anemia ORPHA:667
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Splenomegaly, Short thorax, Thoracic dysplasia, Short ribs, Narrow chest, H... OMIM:269860
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Narrow chest, Thin ribs ORPHA:73230
Ellis-Van Creveld Syndrome
Short ribs, Narrow chest, Horizontal ribs, Pectus carinatum OMIM:225500
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Cupped ribs, Flat glenoid fossa, Short ribs, Irregular chondrocostal junctions OMIM:250420
Mucopolysaccharidosis, Type Ivb
Prominent sternum, Ataxia, Flaring of rib cage OMIM:253010
Autosomal Recessive Multiple Pterygium Syndrome
Pectus excavatum, Abnormal sternum morphology, Rib fusion, Gait disturbance ORPHA:2990
Mucopolysaccharidosis Type 6
Splenomegaly, Broad ribs ORPHA:583
Dextrocardia
Abnormality of the spleen, Abnormal rib morphology ORPHA:1666
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Elevated circulating creatine kinase concentration, Pectus excavatu... ORPHA:800
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Ataxia, Splenomegaly, Abnormal rib morphology, Gait disturbance, Lo... ORPHA:581
Holzgreve Syndrome
Abnormal rib morphology ORPHA:2167
Myotubular Myopathy With Abnormal Genital Development
Thin ribs OMIM:300219
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Pectus excavatum, Anemia, Leuko... ORPHA:2785
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
Multiple Pterygium Syndrome, X-Linked
Thin ribs OMIM:312150
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Rib fusion ORPHA:261197
Osteogenesis Imperfecta
Multiple rib fractures, Ataxia, Pectus excavatum, Thrombocytopenia, Abnormal rib morphology, Pect... ORPHA:666
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Short ribs, Missing ribs, Thin ribs OMIM:271520
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Short ribs, Narrow chest, Horizontal... OMIM:263520
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Abnormal sternum morphology, Supernumerary ribs, Short ribs, Bifid ribs, ... OMIM:109400
Osteogenesis Imperfecta, Type Iii
Thin ribs OMIM:259420
Mucopolysaccharidosis, Type Iiid
Splenomegaly, Thoracic scoliosis, Thickened ribs, Difficulty walking OMIM:252940
Cole-Carpenter Syndrome
Abnormal rib morphology ORPHA:2050
Hurler Syndrome
Splenomegaly, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:93473
Meier-Gorlin Syndrome 1
Absent sternal ossification, Lateral clavicle hook, Flat glenoid fossa, Pectus carinatum, Thin ri... OMIM:224690
Shprintzen-Goldberg Craniosynostosis Syndrome
Lateral clavicle hook, Pectus excavatum, Thin ribs, Pectus carinatum, Supernumerary ribs OMIM:182212
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Nonketotic hyperglycinemia ORPHA:1300
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Rib fusion, Gait disturbance, Narrow chest, Bifid ribs, Sprengel anomaly OMIM:213980
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Br... OMIM:304150
Alagille Syndrome
Abnormal rib morphology ORPHA:52
Mosaic Trisomy 8
Abnormal rib morphology, Narrow chest ORPHA:96061
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs OMIM:618395
Van Den Ende-Gupta Syndrome
Hypoplastic scapulae, Glenoid fossa hypoplasia, Lateral clavicle hook, Pectus excavatum, Thin rib... OMIM:600920
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Short ribs, Horizontal ribs, Thoracic hypoplasia OMIM:613091
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Anomalous rib insertion to vertebrae, Posterior rib ... OMIM:117650
Kyphomelic Dysplasia
Lateral clavicle hook, Undulate ribs, Anterior rib cupping, Thoracic hypoplasia OMIM:211350
Xylt1-Cdg
Broad ribs, Short clavicles ORPHA:370930
Hallermann-Streiff Syndrome
Pectus excavatum, Thin ribs, Choreoathetosis, Abnormal rib cage morphology, Decreased number of s... OMIM:234100
Sclerosteosis 1
Broad ribs, Sclerotic scapulae, Broad clavicles OMIM:269500
Vacterl/Vater Association
Abnormal rib morphology ORPHA:887
Osteogenesis Imperfecta, Type Xviii
Thin ribs OMIM:617952
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Thrombocytopenia, Abnormal rib morphology, Hypokalemia, Hyperaldoste... ORPHA:534
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal rib morphology, Narrow chest, Abnormal scapula morphology ORPHA:93317
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Thickened ribs, Ataxia, Pectus excavatum, Hepatosplenomegaly, Pectus carinatum ORPHA:309282
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Bell-shaped thorax, Short ribs, Narrow chest, Horizontal ribs OMIM:616300
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Pectus excavatum, Thin ribs, Supernumerary ribs OMIM:619127
Multiple Pterygium Syndrome, Escobar Variant
Long clavicles, Rib fusion, Down-sloping shoulders, Gait disturbance OMIM:265000
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad ribs ORPHA:85184
Acrocapitofemoral Dysplasia
Pectus excavatum, Cupped ribs, Pectus carinatum, Short ribs, Narrow chest OMIM:607778
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Long thorax, Narrow chest, Short ribs, Horizontal ribs OMIM:617925
Cantú Syndrome
Broad ribs, Narrow chest ORPHA:1517
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Hypoplastic scapulae, Increased circulating corticosterone ... ORPHA:95699
Pyknoachondrogenesis
Enlarged thorax, Short thorax, Short ribs, Horizontal ribs ORPHA:3003
Smith-Lemli-Opitz Syndrome
Splenomegaly, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypochole... OMIM:270400
Otopalatodigital Syndrome Type 2
Abnormal rib morphology, Narrow chest ORPHA:90652
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Pectus excavatum, Abnormality of the ... ORPHA:96334
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Thin ribs ORPHA:2463
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar kyphosis, Hyposegmentation of neutrophil nuclei, Thoracic hypoplasia, Horizontal ribs OMIM:618019
Craniometadiaphyseal Dysplasia
Broad ribs OMIM:269300
Monosomy 9Q22.3
Pectus excavatum, Abnormal rib morphology ORPHA:77301
Aicardi Syndrome
Rib fusion, Supernumerary ribs, Bifid ribs, Missing ribs ORPHA:50
Radio-Renal Syndrome
Abnormal rib morphology ORPHA:3015
Kagami-Ogata Syndrome
Bell-shaped thorax, Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254519
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs, Hypotriglyceridemia ORPHA:85167
Spinocerebellar Ataxia Type 25
Progressive cerebellar ataxia, Gait ataxia ORPHA:101111
Pagod Syndrome
Abnormal clavicle morphology, Abnormality of the spleen, Abnormal rib morphology ORPHA:991
Kindler Epidermolysis Bullosa
Abnormal rib morphology, Anemia ORPHA:2908
Nestor-Guillermo Progeria Syndrome
Rib osteolysis, Progressive clavicular acroosteolysis, Thin ribs OMIM:614008
Mucopolysaccharidosis, Type Vi
Splenomegaly, Broad ribs, Prominent sternum, Pectus carinatum OMIM:253200
Trisomy 18
Abnormal rib morphology ORPHA:3380
Bent Bone Dysplasia Syndrome 2
Short sternum, Short ribs, Thin ribs OMIM:620076
Premature Aging Syndrome, Penttinen Type
Cervical ribs, Thin ribs OMIM:601812
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion ORPHA:544488
Cranioectodermal Dysplasia 2
Pectus excavatum, Splenomegaly, Short ribs, Polysplenia, Narrow chest, Hyperbilirubinemia, Horizo... OMIM:613610
X-Linked Hypophosphatemia
Enlargement of the costochondral junction, Hypophosphatemia, Rachitic rosary, Beaded ribs ORPHA:89936
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Missing ribs, Narrow chest, Thin ribs OMIM:200980
Frontometaphyseal Dysplasia 1
Scapular winging, Coat hanger sign of ribs OMIM:305620
Aicardi Syndrome
Rib fusion, Supernumerary ribs, Bifid ribs, Missing ribs OMIM:304050
Eiken Syndrome
Broad ribs OMIM:600002
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Splenopancreatic fusion, Hypoplasia of first ribs, Short sternum, Broad ribs OMIM:269150
Osteopathia Striata With Cranial Sclerosis
Pectus excavatum, Broad ribs, Thoracolumbar kyphosis, Straight clavicles OMIM:300373
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
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction ORPHA:79345
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Thin ribs OMIM:610915
Microphthalmia, Syndromic 3
Rib fusion, Supernumerary ribs, Missing ribs OMIM:206900
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia, Abnormal rib morphology OMIM:118450
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Cupped ribs, Horizontal inferior border of scapula, Short ribs, Narrow chest OMIM:250220
Smith-Lemli-Opitz Syndrome
Abnormal rib morphology, Elevated circulating 7-dehydrocholesterol concentration ORPHA:818
Pallister-Hall Syndrome
Decreased circulating cortisol level, Rib fusion OMIM:146510
Simpson-Golabi-Behmel Syndrome
Pectus excavatum, Splenomegaly, Abnormal rib morphology, Polysplenia ORPHA:373
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Stuve-Wiedemann Syndrome 1
Thin ribs OMIM:601559
Campomelic Dysplasia
11 pairs of ribs, Thoracic scoliosis, Absent sternal ossification, Hypoplastic scapulae, Pectus c... OMIM:114290
Myhre Syndrome
Abnormal rib morphology ORPHA:2588
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Cupped ribs, Abnormal rib cage morphology, Flaring of rib cage OMIM:271640
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Abnormal thorax morphology, Rib fusion, Ataxia ORPHA:280
Ear-Patella-Short Stature Syndrome
Abnormal rib morphology, Aplastic clavicle ORPHA:2554
Fryns Syndrome
Broad ribs, Polysplenia, Thoracic hypoplasia, Thin ribs OMIM:229850
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Broad ribs, Hepatosplenomegaly OMIM:301066
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
Weill-Marchesani Syndrome 1
Broad ribs OMIM:277600
1P36 Deletion Syndrome
11 pairs of ribs, Abnormality of the spleen, Rib fusion, Gait disturbance, Bifid ribs ORPHA:1606
Monosomy 9P
Abnormal rib morphology ORPHA:261112
Lenz-Majewski Hyperostotic Dwarfism
Broad ribs, Broad clavicles OMIM:151050
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Pectus excavatum, Undulate ribs, Short clavicles OMIM:609945
Coccidioidomycosis
Broad ribs, Abnormality of the spleen, Eosinophilia ORPHA:228123
Schinzel-Giedion Syndrome
Broad ribs, Abnormal thorax morphology, Myeloid leukemia, Abnormal clavicle morphology ORPHA:798
Camptodactyly Syndrome, Guadalajara Type 3
Abnormal rib morphology ORPHA:488434
Ulbright-Hodes Syndrome
Short sternum, Abnormal rib morphology, Short ribs, Thin ribs ORPHA:3404
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Long clavicles, B lymphocytopenia, Thin ribs ORPHA:83617
Weill-Marchesani Syndrome 2
Broad ribs OMIM:608328
Myhre Syndrome
Broad ribs, Ataxia OMIM:139210
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Thin ribs, Hypoplasia of the thymus, Narrow chest, Truncal ataxia OMIM:264090
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Thin clavicles, Thin ribs, Increase... ORPHA:1662
Zttk Syndrome
Cervical ribs, Rib fusion OMIM:617140
Cog1-Cdg
Rib fusion, Posterior rib gap, Hepatosplenomegaly ORPHA:263508
Robinow Syndrome
Rib fusion, Missing ribs ORPHA:97360
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Thin ribs OMIM:225400
Mucopolysaccharidosis Type 2, Severe Form
Splenomegaly, Thickened ribs, Hepatosplenomegaly ORPHA:217085
Osteogenesis Imperfecta, Type Vii
Pectus excavatum, Multiple rib fractures, Narrow chest OMIM:610682
Mucopolysaccharidosis Type 2, Attenuated Form
Splenomegaly, Thickened ribs, Hepatosplenomegaly ORPHA:217093
Charge Syndrome
Abnormal rib morphology ORPHA:138
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Barrel-shaped chest, Broad clavicles, Congenital pseudoarthrosis of the clavicle, Pectus carinatu... OMIM:276820
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Rib fusion, Accessory spleen, Abnormal sternal ossification OMIM:194190
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Missing ribs OMIM:134780
Charge Syndrome
Hypocalcemia, Lymphopenia, Abnormal rib morphology, Down-sloping shoulders OMIM:214800
Craniotubular Dysplasia, Ikegawa Type
Broad ribs OMIM:619727
Fetal Akinesia Deformation Sequence 1
Thoracic hypoplasia, Thin ribs OMIM:208150
Vater/Vacterl Association
Abnormal sternum morphology, Abnormal rib morphology OMIM:192350
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Rib fusion, Bifid ribs OMIM:607872
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Cervical ribs ORPHA:500150
Cardiospondylocarpofacial Syndrome
Rib fusion OMIM:157800
Baller-Gerold Syndrome
Rib fusion OMIM:218600
Townes-Brocks Syndrome
Abnormal rib morphology ORPHA:857
Pallister-Hall Syndrome
Rib fusion ORPHA:672
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis OMIM:614932
Spinocerebellar Ataxia 25
Ataxia OMIM:608703
Combined Oxidative Phosphorylation Defect Type 13
Choreoathetosis ORPHA:319514
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
OMIM:614934

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 Pnpt1

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 Pnpt1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Genome-wide association study identifies five risk loci for pernicious anemia. Nature communications (June 2021) Pnpt1tm1a(KOMP)Wtsi PMC8213695
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pnpt1tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Pnpt1tm1a(KOMP)Wtsi PMC6459510

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pnpt1tm301213(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pnpt1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pnpt1tm37613(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pnpt1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pnpt1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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