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

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 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 0.68% (4 of 586)
aorta 0.17% (1 of 594)
blood vessel 0.0%
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 588)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 590)
cerebellum 0.51% (3 of 594)
cerebral cortex 0.34% (2 of 588)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.34% (2 of 590)
hypothalamus 0.34% (2 of 592)
kidney 4.55% (27 of 593)
large intestine 5.41% (32 of 592)
liver 0.0%
lower urinary tract 0.17% (1 of 586)
lung 0.34% (2 of 581)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 587)
ovary 0.17% (1 of 586)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 566)
peripheral nervous system 0.34% (2 of 587)
peyer's patch 0.58% (1 of 173)
pituitary gland 0.17% (1 of 589)
prostate gland 2.04% (12 of 588)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 593)
small intestine 5.43% (32 of 589)
spinal cord 0.51% (3 of 587)
spleen 0.51% (3 of 590)
stomach 3.73% (22 of 590)
striatum 0.51% (3 of 583)
testis 0.85% (5 of 591)
thymus 0.17% (1 of 590)
thyroid gland 2.89% (17 of 588)
trachea 0.51% (3 of 590)
uterus 0.34% (2 of 590)
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
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
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
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
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:615234
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:616860
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... OMIM:277410
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Hypobetalipoproteinemia, Familial, 1
Ataxia, Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemi... OMIM:615558
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Pectus carinatum ORPHA:3268
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... OMIM:609628
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... ORPHA:2169
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... ORPHA:300298
Diamond-Blackfan Anemia 7
Sprengel anomaly, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612562
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocyt... OMIM:611590
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Steatorrhea, Leukopenia, Aplastic... ORPHA:811
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... OMIM:616959
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs OMIM:617405
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Anterior rib cupping, Short thorax, Missing ribs, Lateral clavicle hook ORPHA:1801
Blackfan-Diamond Anemia
Sprengel anomaly, Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Le... ORPHA:124
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Lateral clavicle hook OMIM:615633
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... ORPHA:848
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Hypophosphatasia
Narrow chest, Anemia, Hypercalcemia, Abnormal rib morphology ORPHA:436
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Prominent floating ribs OMIM:152800
Endosteal Hyperostosis, Worth Type
Abnormal rib morphology, Clavicular sclerosis ORPHA:2790
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal rib morphology ORPHA:1354
Jeune Syndrome
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormal rib morphology,... ORPHA:474
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Maternal Uniparental Disomy Of Chromosome 4
Ataxia, Dysmetria, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acan... ORPHA:96180
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Pectus excavatum, Abnormal reticulocyte morphology, Abnormal rib mo... ORPHA:2522
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum OMIM:602196
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Pectus excavatum, Leukocytosis, Anisocytosis, Hepatosplenomega... OMIM:618278
Shwachman-Diamond Syndrome 1
Narrow chest, Neutropenia, Steatorrhea, Persistence of hemoglobin F, Anterior rib cupping, Enlarg... OMIM:260400
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal rib morphology, Rib fusion, Short thorax, Missing ribs OMIM:613686
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Bell-shaped thorax, Hyp... OMIM:614857
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Neutropenia ORPHA:2643
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis ORPHA:621
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Horizontal ribs, Bell-shaped thorax, Short ribs OMIM:187760
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Thin ribs, Long clavicles, Thin clavicles, Anemia OMIM:244460
Grant Syndrome
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Abnormal rib morphology ORPHA:2097
Autosomal Dominant Spondylocostal Dysostosis
Abnormal rib morphology, Posterior rib fusion, Short thorax, Missing ribs ORPHA:1797
Hyperparathyroidism, Transient Neonatal
Narrow chest, Thin ribs, Short ribs OMIM:618188
Chylomicron Retention Disease
Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Mosaic Trisomy 14
Narrow chest, Abnormal rib morphology ORPHA:1703
Abetalipoproteinemia
Broad-based gait, Abnormal circulating apolipoprotein concentration, Ataxia, Hyperbilirubinemia, ... ORPHA:14
Axial Spondylometaphyseal Dysplasia
Narrow chest, Thoracic scoliosis, Short ribs, Deformed rib cage, Aplasia/Hypoplasia of the ribs, ... ORPHA:168549
Metatropic Dysplasia
Long thorax, Narrow chest, Abnormal rib morphology ORPHA:2635
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal rib morphology, Pectus carinatum, Gait disturbance ORPHA:93351
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:93267
Sprengel Deformity
Sprengel anomaly, Rib segmentation abnormalities OMIM:184400
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs OMIM:173800
Achondrogenesis Type 1B
Narrow chest, Short thorax, Abnormal rib morphology ORPHA:93298
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Pectus carinatum ORPHA:98791
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Congenital Disorder Of Glycosylation, Type Iig
Abnormal rib morphology, Anemia, Thrombocytopenia OMIM:611209
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs OMIM:122860
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Abnormal shoulder morphology, Abnormal rib morphology ORPHA:2345
Osteogenesis Imperfecta, Type Ix
Pectus excavatum, Beaded ribs, Pectus carinatum OMIM:259440
Squalene Synthase Deficiency
Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... OMIM:618156
Becker Nevus Syndrome
Rib fusion, Pectus excavatum, Supernumerary ribs, Pectus carinatum ORPHA:64755
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly OMIM:607765
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion OMIM:608681
Eisenmenger Syndrome
Increased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Hypochr... ORPHA:97214
Castleman Disease
Decreased mean corpuscular volume, Anemia, Thrombocytopenia, Elevated circulating C-reactive prot... ORPHA:160
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea OMIM:266510
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormality of the spleen ORPHA:93941
Renpenning Syndrome
Sprengel anomaly, Pectus excavatum, Abnormal rib morphology ORPHA:3242
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion OMIM:609813
Achondrogenesis Type 1A
Narrow chest, Short thorax, Multiple rib fractures ORPHA:93299
White Forelock With Malformations
Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Short ribs, Horizontal ribs, Thoracic hypoplasia, Lateral clavicle hook OMIM:617895
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Fibrochondrogenesis
Narrow chest, Short ribs, Bell-shaped thorax, Abnormal rib morphology, Hypoplastic scapulae, Broa... ORPHA:2021
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology ORPHA:2578
Holt-Oram Syndrome
Sprengel anomaly, Abnormal clavicle morphology, Pectus excavatum, Down-sloping shoulders, Abnorma... ORPHA:392
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Asymmetry of the thorax, Hypochromic microcyt... OMIM:141750
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Abnormal rib morphology ORPHA:1988
Metatropic Dysplasia
Narrow chest, Short ribs, Clavicular pseudarthrosis, Flaring of rib cage, Cupped ribs OMIM:156530
Achondrogenesis, Type Ia
Narrow chest, Short clavicles, Short ribs, Barrel-shaped chest, Broad clavicles, Bell-shaped thor... OMIM:200600
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Short ribs ORPHA:2519
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Anemia, Thrombocytopenia ORPHA:31150
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Thin ribs, Thin clavicles, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Osteogenesis Imperfecta, Type Ii
Beaded ribs, Thoracic hypoplasia, Thin ribs, Bell-shaped thorax OMIM:166210
Septopreoptic Holoprosencephaly
Abnormal rib morphology ORPHA:280195
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Mildly elevated creatine kinase, Short ribs ORPHA:1145
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology ORPHA:2145
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology OMIM:601076
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal rib morphology, Missing ribs ORPHA:2759
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Dysmetria, Steatorrhea, Thrombocytosis, Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Abnormal rib morphology ORPHA:2180
Diastrophic Dysplasia
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:628
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly, Flaring of rib... OMIM:612852
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Thin ribs, Short ribs OMIM:151210
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal rib morphology, Pectus carinatum ORPHA:3082
Mucopolysaccharidosis Type 4
Abnormal rib morphology, Short thorax, Pectus carinatum, Gait disturbance ORPHA:582
Autosomal Recessive Spondylocostal Dysostosis
Abnormal rib morphology, Rib fusion, Short thorax, Rib segmentation abnormalities ORPHA:2311
Autosomal Dominant Centronuclear Myopathy
Difficulty walking, Thin ribs, Mildly elevated creatine kinase ORPHA:169189
Fibrochondrogenesis 1
Thin ribs, Short ribs, Long clavicles, Thin clavicles, Anterior rib cupping, Hypoplastic scapulae... OMIM:228520
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Thin ribs OMIM:604922
Cooper-Jabs Syndrome
Abnormal rib morphology, Missing ribs ORPHA:1488
Mesomelic Dysplasia, Kantaputra Type
Abnormal rib morphology ORPHA:1836
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology ORPHA:2234
Dyggve-Melchior-Clausen Disease
Inability to walk, Horizontal inferior border of scapula, Pectus carinatum, Glenoid fossa hypopla... ORPHA:239
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Achondrogenesis, Type Ii
Barrel-shaped chest, Horizontal ribs, Short ribs OMIM:200610
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Lethal Congenital Contracture Syndrome Type 1
Abnormal rib morphology ORPHA:1486
Lead Poisoning
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Imbalanced hemo... ORPHA:330015
Acrocapitofemoral Dysplasia
Narrow chest, Pectus excavatum, Short ribs, Pectus carinatum, Cupped ribs OMIM:607778
Gracile Bone Dysplasia
Asplenia, Hypocalcemia, Hypoplastic spleen, Thin ribs OMIM:602361
Trisomy 13
Narrow chest, Abnormal rib morphology ORPHA:3378
Osteogenesis Imperfecta, Type Xv
Thin ribs OMIM:615220
Axial Mesodermal Dysplasia Spectrum
Abnormal rib morphology, Abnormality of the spleen, Missing ribs ORPHA:1834
Melnick-Needles Syndrome
Narrow chest, Short clavicles, Short thorax, Abnormal rib morphology ORPHA:2484
Prune Belly Syndrome
Abnormal rib morphology, Pectus excavatum ORPHA:2970
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Beaded ribs, Multiple rib fractures, Thoracic hypoplasia, Short ribs OMIM:616897
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Spondylocostal Dysostosis 1, Autosomal Recessive
Rib fusion OMIM:277300
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal rib morphology, Pectus carinatum ORPHA:3068
Aspergillosis
Abnormal rib morphology, Eosinophilia, Neutropenia ORPHA:1163
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Thin ribs OMIM:300863
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal rib morphology, Splenomegaly ORPHA:3035
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Abnormal rib morphology OMIM:118100
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Broad ribs, Short ribs OMIM:610319
Lethal Congenital Contracture Syndrome 10
Narrow chest, Hypoplasia of the thymus, Thoracic scoliosis, Broad ribs OMIM:617022
Lethal Congenital Contracture Syndrome 5
Elevated circulating creatine kinase concentration, Thin ribs OMIM:615368
Three M Syndrome 2
Thin ribs, Scapular winging, Short thorax, Pectus carinatum OMIM:612921
Juberg-Hayward Syndrome
Abnormal rib morphology ORPHA:2319
3M Syndrome
Enlarged thorax, Thin ribs, Horizontal ribs, Short thorax, Scapular winging ORPHA:2616
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Thoracic kyphosis, Prominent sternum, Thin ribs OMIM:300232
Alg12-Cdg
B lymphocytopenia, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia, Thrombocytopenia ORPHA:79324
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs OMIM:618265
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Kagami-Ogata Syndrome
Long clavicles, Splenomegaly, Thin ribs, Bell-shaped thorax OMIM:608149
Cartilage-Hair Hypoplasia
Narrow chest, Hypocalcemia, Pectus carinatum, Abnormal rib morphology, Flaring of lower rib cage,... ORPHA:175
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Splenomegaly OMIM:252920
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Broad ribs, Short ribs OMIM:252600
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Splenomegaly OMIM:252900
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Missing ribs ORPHA:1647
Mucopolysaccharidosis, Type Iva
Flaring of rib cage, Prominent sternum, Waddling gait, Pectus carinatum OMIM:253000
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Bell-shaped thorax OMIM:244450
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Thin ribs OMIM:253290
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Hypophosphatemia, Increased circulating cortisol level, Antalgic ga... ORPHA:249
Greenberg Dysplasia
Narrow chest, Anterior rib punctate calcifications, Short ribs, Abnormal scapula morphology, Long... OMIM:215140
Pseudo-Torch Syndrome 2
Thrombocytopenia, Thin ribs OMIM:617397
Trisomy 1Q
Abnormal rib morphology, Short thorax ORPHA:261344
Osteopetrosis, Autosomal Recessive 7
Anemia, Splenomegaly, Hypocalcemic seizures, Multiple rib fractures OMIM:612301
Pontine Tegmental Cap Dysplasia
Rib fusion, Ataxia, Dysmetria OMIM:614688
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs ORPHA:456328
Dysosteosclerosis
Narrow chest, Short sternum, Short ribs, Clavicular sclerosis, Sclerotic scapulae, Broad ribs OMIM:224300
Microcephaly, Short Stature, And Limb Abnormalities
Abnormal rib morphology OMIM:617604
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Multiple Pterygium-Malignant Hyperthermia Syndrome
Abnormal rib morphology, Pectus excavatum, Abnormal circulating creatine kinase concentration ORPHA:2215
Microcephaly-Micromelia Syndrome
Narrow chest, Abnormal rib morphology OMIM:251230
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Lymphopenia, Secondary hyperaldosteronism, Decreas... ORPHA:90363
Cleidocranial Dysplasia
Narrow chest, Short clavicles, Down-sloping shoulders, Abnormal rib morphology, Hypoplastic scapulae ORPHA:1452
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Beaded ribs, Multiple rib fractures OMIM:616229
Mucopolysaccharidosis, Type X
Spatulate ribs, Broad ribs, Broad clavicles OMIM:619698
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Antley-Bixler Syndrome
Narrow chest, Abnormal rib morphology ORPHA:83
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Abnormal clavicle morphology, Thin ribs, Pectus carinatum, Hypoplastic scapulae ORPHA:958
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs OMIM:614833
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest ORPHA:1394
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Splenomegaly OMIM:252930
Severe Congenital Nemaline Myopathy
Thin ribs, Abnormal thorax morphology ORPHA:171430
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal rib morphology ORPHA:1120
Gm1-Gangliosidosis, Type I
Thickened ribs, Vacuolated lymphocytes, Splenomegaly OMIM:230500
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs OMIM:609616
Cole-Carpenter Syndrome 2
Pectus excavatum, Thin ribs OMIM:616294
Campomelia, Cumming Type
Abnormal rib morphology, Abnormal thorax morphology ORPHA:1318
Poland Syndrome
Sprengel anomaly, Abnormal sternum morphology, Asymmetry of the thorax, Short ribs, Pectus carina... ORPHA:2911
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Abnormal rib morphology, Unilateral chest hypoplasia OMIM:308205
Dubowitz Syndrome
Hypocholesterolemia, Acute lymphoblastic leukemia, Aplastic anemia OMIM:223370
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:301040
Cenani-Lenz Syndrome
Abnormal rib morphology ORPHA:3258
Phaver Syndrome
Abnormal rib morphology ORPHA:2876
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Missing ribs ORPHA:3301
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Short ribs, Conjugated hyperbilirubinemia, Horizontal ribs, Thoracic dysplasia, Lat... OMIM:208500
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Hypophosphatemia, Hypocalcemia, Splenomegaly, Abnormal rib morphology, Anemia ORPHA:667
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs OMIM:608940
Osteogenesis Imperfecta, Type X
Narrow chest, Broad ribs, Thin ribs OMIM:613848
Mucopolysaccharidosis Type 6
Broad ribs, Splenomegaly ORPHA:583
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Hyperuricemia, Abnormal rib morphology ORPHA:2769
Ellis-Van Creveld Syndrome
Narrow chest, Horizontal ribs, Pectus carinatum, Short ribs OMIM:225500
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Hypocalcemia, Prominent floating ribs, Leukopenia, Elevated circulating creatin... ORPHA:2785
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Difficulty walking, Thoracic scoliosis, Splenomegaly OMIM:252940
Mucopolysaccharidosis Type 3
Ataxia, Abnormal clavicle morphology, Loss of ambulation, Splenomegaly, Abnormal rib morphology, ... ORPHA:581
Dextrocardia
Abnormal rib morphology, Abnormality of the spleen ORPHA:1666
Short-Rib Thoracic Dysplasia 12
Narrow chest, Short ribs, Splenomegaly, Hypoplastic scapulae, Horizontal ribs, Short thorax, Thor... OMIM:269860
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Short ribs, Pectus carinatum, Horizontal ribs, Thoracic dysp... OMIM:263520
Myotubular Myopathy With Abnormal Genital Development
Thin ribs OMIM:300219
Holzgreve Syndrome
Abnormal rib morphology ORPHA:2167
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Narrow chest, Thin ribs, Abnormal thorax morphology ORPHA:73230
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Short ribs OMIM:250420
Schwartz-Jampel Syndrome
Sprengel anomaly, Pectus excavatum, Elevated circulating creatine kinase concentration, Pectus ca... ORPHA:800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs ORPHA:163966
Autosomal Recessive Multiple Pterygium Syndrome
Gait disturbance, Rib fusion, Pectus excavatum, Abnormal sternum morphology ORPHA:2990
Osteogenesis Imperfecta
Narrow chest, Ataxia, Pectus excavatum, Loss of ambulation, Thin ribs, Multiple rib fractures, Pe... ORPHA:666
Multiple Pterygium Syndrome, X-Linked
Thin ribs OMIM:312150
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Missing ribs, Thin ribs, Short ribs OMIM:271520
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs OMIM:618395
Kniest-Like Dysplasia, Lethal
Narrow chest, Broad ribs, Short ribs OMIM:245190
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Coat hanger sign of ribs, Pectus excavatum, Prominent sternum, Thoracic hypoplasia ORPHA:254528
Osteogenesis Imperfecta, Type Iii
Thin ribs OMIM:259420
Basal Cell Nevus Syndrome
Sprengel anomaly, Bifid ribs, Abnormal sternum morphology, Short ribs, Down-sloping shoulders, Su... OMIM:109400
Hurler Syndrome
Abnormal rib morphology, Abnormal clavicle morphology, Splenomegaly ORPHA:93473
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Choreoathetosis ORPHA:261197
Meier-Gorlin Syndrome 1
Abnormal rib cage morphology, Thin ribs, Short ribs, Absent glenoid fossa, Lateral clavicle hook,... OMIM:224690
Mucopolysaccharidosis, Type Ivb
Flaring of rib cage, Prominent sternum OMIM:253010
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Horizontal ribs, Bell-shaped thorax, Short ribs OMIM:616300
Cole-Carpenter Syndrome
Abnormal rib morphology ORPHA:2050
Sclerosteosis 1
Sclerotic scapulae, Broad ribs, Broad clavicles OMIM:269500
Alagille Syndrome
Abnormal rib morphology ORPHA:52
Xylt1-Cdg
Short clavicles, Broad ribs ORPHA:370930
Mosaic Trisomy 8
Narrow chest, Abnormal rib morphology ORPHA:96061
Van Den Ende-Gupta Syndrome
Short clavicles, Pectus excavatum, Thin ribs, Short ribs, Glenoid fossa hypoplasia, Hypoplastic s... OMIM:600920
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sprengel anomaly, Rib fusion, Bifid ribs, Pectus excavatum, Narrow chest, Gait disturbance OMIM:213980
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Nonketotic hyperglycinemia ORPHA:1300
Craniofaciofrontodigital Syndrome
Pectus excavatum, Broad ribs OMIM:114620
Shprintzen-Goldberg Craniosynostosis Syndrome
Pectus excavatum, Thin ribs, Pectus carinatum, Supernumerary ribs, Lateral clavicle hook OMIM:182212
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Lateral clavicle hook, Short ribs OMIM:613091
Vacterl/Vater Association
Abnormal rib morphology ORPHA:887
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal scapula morphology, Narrow chest, Abnormal rib morphology ORPHA:93317
Kyphomelic Dysplasia
Undulate ribs, Anterior rib cupping, Thoracic hypoplasia, Lateral clavicle hook OMIM:211350
Mandibuloacral Dysplasia Progeroid Syndrome
Pectus excavatum, Thin ribs, Elevated hemoglobin A1c, Hypertriglyceridemia, Supernumerary ribs OMIM:619127
Occipital Horn Syndrome
Narrow chest, Short clavicles, Pectus excavatum, Broad clavicles, Pectus carinatum, Broad ribs OMIM:304150
Osteogenesis Imperfecta, Type Xviii
Thin ribs OMIM:617952
Hallermann-Streiff Syndrome
Pectus excavatum, Abnormal rib cage morphology, Thin ribs, Choreoathetosis, Decreased number of s... OMIM:234100
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Ataxia, Pectus excavatum, Hepatosplenomegaly, Pectus carinatum, Pancytopenia ORPHA:309282
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyperaldosteronism, Abnormal rib morphology, Hypona... ORPHA:534
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad ribs ORPHA:85184
Short Rib-Polydactyly Syndrome
Narrow chest, Short ribs, Hypoplastic scapulae, Horizontal ribs, Thoracic hypoplasia ORPHA:1505
Cantú Syndrome
Narrow chest, Broad ribs ORPHA:1517
Multiple Pterygium Syndrome, Escobar Variant
Gait disturbance, Rib fusion, Down-sloping shoulders, Long clavicles OMIM:265000
Pyknoachondrogenesis
Enlarged thorax, Horizontal ribs, Short thorax, Short ribs ORPHA:3003
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short ribs, Long thorax, Horizontal ribs, Lateral clavicle hook OMIM:617925
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia, Splenomegaly OMIM:270400
Otopalatodigital Syndrome Type 2
Narrow chest, Abnormal rib morphology ORPHA:90652
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Narrow chest, Pectus excavatum, Prominent sternum, Long clavicles, Absent glenoid fossa, Abnormal... ORPHA:96334
Craniometadiaphyseal Dysplasia
Broad ribs OMIM:269300
Cerebrocostomandibular Syndrome
Rib gap, Anomalous rib insertion to vertebrae, 11 pairs of ribs, Bell-shaped thorax, Thoracic hyp... OMIM:117650
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Thin ribs ORPHA:2463
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Narrow chest, Decreased circulating cortisol level, Abnormal rib morphology, Hypoplastic scapulae... ORPHA:95699
Aicardi Syndrome
Bifid ribs, Rib fusion, Supernumerary ribs, Missing ribs ORPHA:50
Kagami-Ogata Syndrome
Coat hanger sign of ribs, Thoracic hypoplasia, Bell-shaped thorax ORPHA:254519
Mucopolysaccharidosis, Type Vi
Prominent sternum, Broad ribs, Pectus carinatum, Splenomegaly OMIM:253200
Cranioectodermal Dysplasia 2
Narrow chest, Pectus excavatum, Hyperbilirubinemia, Short ribs, Splenomegaly, Horizontal ribs, Po... OMIM:613610
Kindler Epidermolysis Bullosa
Abnormal rib morphology, Anemia ORPHA:2908
Pagod Syndrome
Abnormal rib morphology, Abnormal clavicle morphology, Abnormality of the spleen ORPHA:991
Monosomy 9Q22.3
Abnormal rib morphology, Pectus excavatum ORPHA:77301
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs, Hypotriglyceridemia ORPHA:85167
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Horizontal ribs, Thoracic hypoplasia, Hyposegmentation of neutrophil nuclei, Thoracolumbar kyphosis OMIM:618019
Trisomy 18
Abnormal rib morphology ORPHA:3380
X-Linked Hypophosphatemia
Beaded ribs, Hypophosphatemia, Rachitic rosary, Enlargement of the costochondral junction ORPHA:89936
Eiken Syndrome
Broad ribs OMIM:600002
Radio-Renal Syndrome
Abnormal rib morphology ORPHA:3015
Aicardi Syndrome
Bifid ribs, Rib fusion, Supernumerary ribs, Missing ribs OMIM:304050
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion ORPHA:544488
Renal Dysplasia-Limb Defects Syndrome
Short sternum, Thin ribs, Short ribs OMIM:266910
Osteopathia Striata With Cranial Sclerosis
Pectus excavatum, Broad ribs, Thoracolumbar kyphosis, Straight clavicles OMIM:300373
Acrorenal-Mandibular Syndrome
Narrow chest, Hypoplastic scapulae, Missing ribs, Thin ribs OMIM:200980
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Long clavicles, Splenopancreatic fusion, Broad ribs, Hypoplasia of first ribs OMIM:269150
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Short clavicles, Splenomegaly, Short ribs, Horizontal ribs OMIM:617088
Kbg Syndrome
Rib fusion, Cervical ribs, Thoracic kyphosis OMIM:148050
Frontometaphyseal Dysplasia 1
Coat hanger sign of ribs, Scapular winging OMIM:305620
Nestor-Guillermo Progeria Syndrome
Rib osteolysis, Thin ribs, Progressive clavicular acroosteolysis OMIM:614008
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction ORPHA:79345
Microphthalmia, Syndromic 3
Rib fusion, Supernumerary ribs, Missing ribs OMIM:206900
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Short ribs, Horizontal inferior border of scapula, 11 pairs of ribs, Cupped ribs OMIM:250220
Alagille Syndrome 1
Abnormal rib morphology, Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Thin ribs OMIM:610915
Simpson-Golabi-Behmel Syndrome
Abnormal rib morphology, Pectus excavatum, Polysplenia, Splenomegaly ORPHA:373
Hereditary Acrokeratotic Poikiloderma
Abnormal rib morphology ORPHA:2907
Smith-Lemli-Opitz Syndrome
Abnormal rib morphology, Elevated 7-dehydrocholesterol ORPHA:818
Campomelic Dysplasia
Thoracic scoliosis, Thin ribs, 11 pairs of ribs, Pectus carinatum, Hypoplastic scapulae, Thoracic... OMIM:114290
Myhre Syndrome
Abnormal rib morphology ORPHA:2588
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Flaring of rib cage, 11 pairs of ribs, Abnormal rib cage morphology OMIM:271640
Wolf-Hirschhorn Syndrome
Rib fusion, Ataxia, Rib segmentation abnormalities, Abnormal thorax morphology ORPHA:280
Stuve-Wiedemann Syndrome 1
Thin ribs OMIM:601559
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatosplenomegaly, Broad ribs OMIM:301066
Pallister-Hall Syndrome
Decreased circulating cortisol level, Rib fusion OMIM:146510
Lenz-Majewski Hyperostotic Dwarfism
Broad ribs, Broad clavicles OMIM:151050
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Abnormal rib morphology ORPHA:2554
Robinow Syndrome, Autosomal Recessive 1
Rib fusion, Pectus excavatum, Missing ribs OMIM:268310
Autosomal Recessive Robinow Syndrome
Rib fusion, Pectus excavatum, Pectus carinatum ORPHA:1507
Weill-Marchesani Syndrome 1
Broad ribs OMIM:277600
1P36 Deletion Syndrome
Bifid ribs, Rib fusion, 11 pairs of ribs, Abnormality of the spleen, Gait disturbance ORPHA:1606
Fryns Syndrome
Polysplenia, Broad ribs, Thoracic hypoplasia, Thin ribs OMIM:229850
Coccidioidomycosis
Abnormality of the spleen, Eosinophilia, Broad ribs ORPHA:228123
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism ORPHA:255210
Monosomy 9P
Abnormal rib morphology ORPHA:261112
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Undulate ribs, Short clavicles, Pectus excavatum OMIM:609945
Camptodactyly Syndrome, Guadalajara Type 3
Abnormal rib morphology ORPHA:488434
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Broad ribs, Myeloid leukemia, Abnormal thorax morphology ORPHA:798
Ulbright-Hodes Syndrome
Abnormal rib morphology, Short sternum, Thin ribs, Short ribs ORPHA:3404
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, B lymphocytopenia, Thin ribs, Long clavicles ORPHA:83617
Myhre Syndrome
Ataxia, Broad ribs OMIM:139210
Weill-Marchesani Syndrome 2
Broad ribs OMIM:608328
Wiedemann-Rautenstrauch Syndrome
Narrow chest, Thin ribs, Hypoplasia of the thymus, Truncal ataxia, Hypertriglyceridemia OMIM:264090
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Thin ribs OMIM:225400
Osteogenesis Imperfecta, Type Vii
Narrow chest, Pectus excavatum, Multiple rib fractures OMIM:610682
Cog1-Cdg
Posterior rib gap, Rib fusion, Hepatosplenomegaly ORPHA:263508
Zttk Syndrome
Rib fusion, Cervical ribs OMIM:617140
Restrictive Dermopathy
Thin ribs, Aplasia/Hypoplasia of the clavicles, Thin clavicles, Thoracic kyphoscoliosis, Increase... ORPHA:1662
Robinow Syndrome
Rib fusion, Missing ribs ORPHA:97360
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Hepatosplenomegaly, Splenomegaly ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Hepatosplenomegaly, Splenomegaly ORPHA:217093
Charge Syndrome
Abnormal rib morphology ORPHA:138
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Prominent sternum, Barrel-shaped chest, Broad clavicles, Pectus carinatum, Broad ribs, Congenital... OMIM:276820
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Missing ribs OMIM:134780
Wolf-Hirschhorn Syndrome
Rib fusion, Abnormal sternal ossification, Accessory spleen, Rib segmentation abnormalities OMIM:194190
Charge Syndrome
Abnormal rib morphology, Down-sloping shoulders, Lymphopenia, Hypocalcemia OMIM:214800
Fetal Akinesia Deformation Sequence 1
Thoracic hypoplasia, Thin ribs OMIM:208150
Craniotubular Dysplasia, Ikegawa Type
Broad ribs OMIM:619727
Chromosome 1P36 Deletion Syndrome, Distal
Bifid ribs, Rib fusion, 11 pairs of ribs OMIM:607872
Baller-Gerold Syndrome
Rib fusion OMIM:218600
Vater/Vacterl Association
Abnormal rib morphology, Abnormal sternum morphology OMIM:192350
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Cervical ribs ORPHA:500150
Cardiospondylocarpofacial Syndrome
Rib fusion OMIM:157800
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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)