Gene Summary

Name:
RAB33B, member RAS oncogene family
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating cholesterol level Rab33bem1(IMPC)J HOM Early adult 7.50×10-05
increased circulating aspartate transaminase level Rab33bem1(IMPC)J HOM Early adult 6.01×10-11
prolonged PR interval Rab33bem1(IMPC)J HOM Early adult 9.33×10-08

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

11 Images

Electroretinography 3

Fundus file

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Forepaw

11 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Rab33b 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 Rab33b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Short metatarsal, Flat acetabular roof, Short metacarpal, B... OMIM:615222

The table below shows human diseases predicted to be associated to Rab33b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Osteomesopyknosis
Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie... ORPHA:2777
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Osteomesopyknosis
Increased bone mineral density, Low back pain OMIM:166450
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Scoliosis, Osteopoikilosis OMIM:166700
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Increased bone mineral density, Metaphyseal dysplasia, Dense metaphyseal ba... OMIM:615198
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c... ORPHA:1802
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification, Abnormality of the vertebral column OMIM:602475
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Abnormality of t... ORPHA:564003
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology, Diaphyseal u... ORPHA:3416
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Sclerosteosis
Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas... ORPHA:3152
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteomyelitis, R... ORPHA:53697
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Knee osteoarthritis, Arthritis, Abnormality of the os naviculare... ORPHA:566943
Eiken Syndrome
Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossi... ORPHA:79106
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Cardiomyopathy, Dilated, 1L
Congestive heart failure, Reduced left ventricular ejection fraction, Elevated circulating creati... OMIM:606685
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... ORPHA:166119
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... OMIM:613694
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Abnormality of the vertebral column, Abnormal pelvic gir... OMIM:607634
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Hip dysplasia, Kyphos... ORPHA:2114
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth, Splenomegaly... ORPHA:2204
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic... ORPHA:3344
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Intermediate Osteopetrosis
Anemia, Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent f... ORPHA:210110
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Failure to thrive, Short humerus, Short femur OMIM:600121
Flynn-Aird Syndrome
Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Joint stiffness, Increased bone den... OMIM:136300
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval ORPHA:542306
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Elevated circulating creatine kinase concentration, First degree atrioventricu... OMIM:310300
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... ORPHA:99106
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel... OMIM:166600
Ghosal Hematodiaphyseal Dysplasia
Diaphyseal dysplasia, Increased bone mineral density, Refractory anemia, Myelofibrosis, Thrombocy... OMIM:231095
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Caffey Disease
Subperiosteal bone formation, Tibial bowing, Calvarial hyperostosis, Cortical irregularity, Perio... OMIM:114000
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Melorheostosis
Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, J... ORPHA:2485
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero... OMIM:144750
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Increased bone mineral d... ORPHA:90650
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micromelia, Limb undergrowth, Generalized osteosclerosis ORPHA:1423
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Bowing of the long bones, Osteolysis OMIM:174810
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, Splenom... OMIM:611490
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin... ORPHA:166277
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab... ORPHA:970
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Bowing of the long bones, Osteomyelitis, Increased sus... OMIM:166260
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Reduced left ventricular ejection fraction, Elevated circulating ... OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Proximal placement of thumb, Abnormal metacarpal mo... ORPHA:628
Osteopetrosis, Autosomal Recessive 9
Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Pathologic fracture OMIM:620366
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Elevated circulating creatine kinase concentration, Arrhythmia, Severel... OMIM:611705
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block OMIM:615616
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Myocardial infarction OMIM:608320
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:309930
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Dysosteosclerosis
Abnormal metaphysis morphology, Craniofacial hyperostosis, Increased bone mineral density, Coarse... ORPHA:1782
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Albers-Schönberg Osteopetrosis
Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morphology, Arthritis, R... ORPHA:53
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple prenatal frac... OMIM:619795
Congenital Myopathy 24
First degree atrioventricular block, Abnormal circulating creatine kinase concentration, Cardiomy... OMIM:617336
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Abnormal femoral neck/head morphology, Increased bone mineral density... ORPHA:163649
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Genu valgum, Metaphyseal widening, Metaphy... OMIM:265900
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... OMIM:156500
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Flared metaphysis, Squared iliac bones, Micromelia, Advanced tarsa... OMIM:215045
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Schnitzler Syndrome
Anemia, Increased bone mineral density, Arthritis, Leukocytosis, Splenomegaly ORPHA:37748
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Failure ... OMIM:600081
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v... OMIM:604169
Cranio-Osteoarthropathy
Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Deviation of finger, Joi... ORPHA:1525
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Platyspondyly, Wide di... OMIM:614856
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera... ORPHA:85184
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Scoliosis, Femoral bowing, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... ORPHA:75508
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology... ORPHA:2635
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, A... OMIM:612158
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Anemia, Sandwich appearance of vertebral... OMIM:259700
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Short 5th metacarpal, Thin bony co... OMIM:619638
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Genu valgum, Anemia, Diaphyseal sclerosis, Pancytopenia, Rec... OMIM:259710
Caffey Disease
Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortical irregularity, Corti... ORPHA:1310
Hepatic Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:614025
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Increase... OMIM:615703
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin... OMIM:300554
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Craniometaphyseal Dysplasia
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Dysosteosclerosis
Osteopenia, Diaphyseal undertubulation, Clavicular sclerosis, Platyspondyly, Abnormal metaphyseal... OMIM:224300
Ck Syndrome
Joint hypermobility, Slender build, Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin... OMIM:241530
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, Decreased me... OMIM:616943
Grant Syndrome
Abnormal cortical bone morphology, Bowing of the long bones, Decreased skull ossification, Abnorm... ORPHA:2097
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly OMIM:615085
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, P... OMIM:112250
Gitelman Syndrome
Hypermagnesemia, Prolonged QT interval, Hypokalemia, Prominent U wave, Hypocalcemia, Low-to-norma... ORPHA:358
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Majeed Syndrome
Hypochromic microcytic anemia, Increased bone mineral density, Leukocytosis, Synovitis, Flexion c... ORPHA:77297
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Osteolysis involving bones of ... ORPHA:73
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i... OMIM:112350
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of... ORPHA:1486
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Scoliosis, Femoral bowing, Osteoporosis, Platyspondyly, Recurrent fractures OMIM:126550
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial arrhythmia, Elevated circulating... OMIM:300257
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Failure ... OMIM:264700
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Periapical tooth abscess, Finger clinodactyly ORPHA:3352
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Failure ... OMIM:277440
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Increased bone mineral density, Scoliosis, Hyperlordosis, Bowing ... ORPHA:1798
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Bowing of the long bones, Osteoporosis, Kyphosis, Lat... OMIM:239000
Paget Disease Of Bone 2, Early-Onset
Vertebral compression fracture, Sandwich appearance of vertebral bodies, Osteosclerosis of the ul... OMIM:602080
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... ORPHA:89936
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Bowing of the long bones, Generalized osteoporosis, Joint hypermobility, Recurren... OMIM:617952
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Elev... OMIM:212138
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedullary hematopoiesis OMIM:612840
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... OMIM:602111
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Elevated circulating creatine kinase concentration, Sinus bradycardia, Syncope, Palpitations, Sec... OMIM:616812
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Desminopathy
Congestive heart failure, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, At... ORPHA:98909
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... ORPHA:83451
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Increased bone mineral density, Scoliosis, Osteolytic defects o... OMIM:265800
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b... OMIM:300009
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R... OMIM:115197
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Osteopetrosis, Spina bifida occulta, Increased bone mineral densi... ORPHA:2780
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Camurati-Engelmann Disease
Genu valgum, Anemia, Diaphyseal sclerosis, Increased bone mineral density, Scoliosis, Cortical th... OMIM:131300
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Clinodactyly of the 5th finger OMIM:617306
Pycnodysostosis
Short finger, Spondylolysis, Rhizomelia, Spondylolisthesis, Generalized osteosclerosis, Increased... ORPHA:763
Proteus Syndrome
Calvarial hyperostosis, Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex OMIM:176920
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped metaphyses of hand bones, ... OMIM:307800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level... ORPHA:26793
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Cortical subperiosteal resorption of humera... ORPHA:94089
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Increased susceptibility to fractures, Delayed epiphyseal ossification, Femoral bowing, ... ORPHA:289157
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva... ORPHA:98855
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Atrial fibrillation, Supraventricular tachycardia, Cardiac... ORPHA:273
Bruck Syndrome 2
Osteopenia, Femoral bowing, Elbow flexion contracture, Flexion contracture, Knee flexion contract... OMIM:609220
Timothy Syndrome
Prolonged QT interval, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, Atrioventricul... OMIM:601005
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva... ORPHA:261
Osteogenesis Imperfecta, Type Viii
Osteopenia, Platyspondyly, Vertebral compression fracture, Slender long bone, Femoral retroversio... OMIM:610915
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ... ORPHA:75565
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva... ORPHA:98863
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata... OMIM:259600
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Sclerotic vertebral body, Diaphyseal sclerosis, Kyphosis, Metaphyseal widening, In... OMIM:618476
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedul... OMIM:259730
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Flared metaphysis, Increased bone mineral density, Metaphyseal cupping, Short metacar... ORPHA:50945
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Increased circulating NT-proBNP concentration, Right axis deviati... OMIM:232300
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Hip subluxation, Anemia, Hypochromic microcytic anemia, Flar... OMIM:259720
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hypertrophic cardiomyopathy OMIM:618810
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p... OMIM:119600
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h... ORPHA:90652
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Hypertension, Pulmonary arterial hypertension, Pr... OMIM:615474
Lenz-Majewski Hyperostotic Dwarfism
Abnormal metaphysis morphology, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morph... ORPHA:2658
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Atrioventricular block, Mitral r... OMIM:234700
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Thin bony cortex, Failure to thrive, Joint stiffness, Limb undergrowth, S... OMIM:230600
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Sandwich appearance of vertebral bodies, Increased bone mineral density, Flared metaphysis, Coars... OMIM:620558
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly OMIM:618541
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Anemia, Abnormality of the medullary cavity of the long bones, Th... OMIM:127000
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Arrhythmia, Atrioventricular block, Dilated cardiomyopathy, A... ORPHA:398124
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Rhizomelia, Fibular bowing, Tibial bowing, Bowing of the long bones, Mic... OMIM:613848
Stüve-Wiedemann Syndrome
Osteopenia, Abnormal metaphysis morphology, Genu valgum, Abnormal cortical bone morphology, Elbow... ORPHA:3206
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Fibrous Dysplasia Of Bone
Rickets, Abnormal femur morphology, Abnormal tibia morphology, Pathologic fracture, Abnormal bone... ORPHA:249
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kinas... ORPHA:96180
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short long bone, Femoral bowing, Metaphyseal irregularity, Joint hypermobility, Short 4th metacar... OMIM:618019
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Metaphyseal widening, Brachyda... ORPHA:440354
Thyrotoxic Periodic Paralysis
Hyperkalemia, Prolonged QT interval, Transient hypophosphatemia, Episodic hypokalemia, Ventricula... ORPHA:79102
Poems Syndrome
Metaphyseal sclerosis, Clubbing of fingers, Sclerosis of hand bone, Sclerosis of foot bone, Polyc... ORPHA:2905
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Rothmund-Thomson Syndrome Type 2
Osteopenia, Finger symphalangism, Abnormal ulnar metaphysis morphology, Aplastic anemia, Aplasia/... ORPHA:221016
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Hyperlordosis, Abnormally ossified vertebrae, Wrist ... ORPHA:800
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Hypertension, Pulmonary arterial hypertension, Epistaxis, Intracranial hemorrhage, H... ORPHA:369929
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Abnormal cardiac vent... ORPHA:1677
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Pachydermoperiostosis
Anemia, Abnormal cortical bone morphology, Arthritis, Limitation of joint mobility, Osteoporosis,... ORPHA:2796
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Short metatarsal, Increased bone mineral density, Short fifth metatarsal, B... ORPHA:79444
Rothmund-Thomson Syndrome
Osteopenia, Hypoplasia of the ulna, Aplastic anemia, Reduced bone mineral density, Neutropenia, A... ORPHA:2909
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Anemia, Abnormal trabecular bone morphology, Splenomegaly OMIM:612301
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Scoliosis, Clinodactyly of the 5th finger, Osteopoikilosis ORPHA:94063
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Right ventricular failure, Secondary hyperaldoste... ORPHA:90363
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block OMIM:617021
Gaucher Disease Type 3
Anemia, Pancytopenia, Increased bone mineral density, Thrombocytopenia, Splenomegaly, Osteolysis,... ORPHA:77261
Rothmund-Thomson Syndrome Type 1
Osteopenia, Finger symphalangism, Abnormal ulnar metaphysis morphology, Aplastic anemia, Anemia, ... ORPHA:221008
Abetalipoproteinemia
Congestive heart failure, Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridem... ORPHA:14
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Bowing of... OMIM:166220
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Femoral bowing, Sho... OMIM:616723
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Cardiomyopathy, Pericarditis, Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Low-output congestive heart failure, Elevated circula... ORPHA:308552
Erdheim-Chester Disease
Abnormal metaphysis morphology, Anemia, Increased bone mineral density, Osteolysis, Abnormal epip... ORPHA:35687
Pseudohypoparathyroidism Type 1A
Short 4th metacarpal, Reduced bone mineral density, Short metatarsal, Increased bone mineral dens... ORPHA:79443
Werner Syndrome
Rocker bottom foot, Increased bone mineral density, Osteoporosis, Joint stiffness, Small hand ORPHA:902
Dent Disease
Rickets, Delayed epiphyseal ossification, Enlarged epiphyses, Sparse bone trabeculae, Metaphyseal... ORPHA:1652
Osteogenesis Imperfecta, Type I
Osteopenia, Femoral bowing, Hip dysplasia, Joint hypermobility, Finger joint hypermobility, Recur... OMIM:166200
Myotonic Dystrophy 1
Atrial fibrillation, First degree atrioventricular block, Atrial flutter OMIM:160900
Desmosterolosis
Osteopetrosis, Increased bone mineral density, Micromelia, Metatarsus adductus, Splenomegaly ORPHA:35107
Raine Syndrome
Subperiosteal bone formation, Increased bone mineral density, Bowing of the long bones, Micromeli... OMIM:259775
Oculodentodigital Dysplasia
Abnormal metaphysis morphology, Cranial hyperostosis, Abnormal cortical bone morphology, Clinodac... ORPHA:2710
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Small hand, Short palm, Short foot, Patchy osteosclerosis OMIM:241410
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Atrioventricular block ORPHA:392
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Abnormal cortical bone morphology, Clinodactyly of the 5th finge... ORPHA:2769
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su... ORPHA:137675
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ... OMIM:620076
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased body weight, Abnormal cortical bone morphology OMIM:614886
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheobronchomalacia, Ti... ORPHA:140
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Hypercholesterolemia... OMIM:615812
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Sanjad-Sakati Syndrome
Small hand, Spinal canal stenosis, Short foot, Patchy osteosclerosis ORPHA:2323
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Trichothiodystrophy
Osteopenia, Anemia, Increased mean corpuscular hemoglobin concentration, Increased bone mineral d... ORPHA:33364
Spondyloocular Syndrome
Osteopenia, Femur fracture, Decreased body weight, Arachnodactyly, Long fingers, Overlapping toe,... OMIM:605822
Desmosterolosis
Rhizomelia, Bilateral talipes equinovarus, Generalized osteosclerosis, Arthrogryposis multiplex c... OMIM:602398
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Gaucher Disease
Osteopenia, Anemia, Pancytopenia, Increased bone mineral density, Abnormal bone structure, Spleni... ORPHA:355
Osteogenesis Imperfecta
Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Dislocated... ORPHA:666
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Short long bone, Femoral bowing, Acetabular spurs, Postaxial polydactyly, F... OMIM:615503
Faciocardiomelic Syndrome
Osteopenia, Polydactyly, Large for gestational age, Slender long bone, Hypoplastic pelvis, Thin b... OMIM:612731
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... OMIM:613091
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Tricuspid regurgitation, Premature ventricular co... OMIM:620066
Fabry Disease
Abnormal circulating lipid concentration, Congestive heart failure, Angina pectoris, Hypertension... ORPHA:324
Frank-Ter Haar Syndrome
Osteopenia, Flared metaphysis, Short long bone, Bowing of the long bones, Cortical irregularity, ... OMIM:249420
Congenital-Onset Steinert Myotonic Dystrophy
First degree atrioventricular block, Bundle branch block ORPHA:589821
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Short metatarsal, Flat acetabular roof, Short metacarpal, B... OMIM:615222
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Bowing of th... ORPHA:667
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Kearns-Sayre Syndrome
Arrhythmia, Cardiomyopathy, Third degree atrioventricular block OMIM:530000
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Talipes equinovarus, Hyperextensibility of the finger joints, Osteoporosis, Long fingers, Long ha... OMIM:309583
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Joint stiffness, Brachydactyly,... OMIM:277600
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Weill-Marchesani Syndrome 2
Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Elbow fl... OMIM:608328
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Hypertension ORPHA:371428
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Schinzel-Giedion Midface Retraction Syndrome
Short 1st metacarpal, Wide distal femoral metaphysis, Tibial bowing, Postaxial hand polydactyly, ... OMIM:269150
Craniotubular Dysplasia, Ikegawa Type
Diaphyseal dysplasia, Broad ischia, Broad femoral neck, Short palm, Metaphyseal dysplasia, Sclero... OMIM:619727
Smith-Lemli-Opitz Syndrome
Hypertension, Hypertrophic cardiomyopathy, Elevated circulating 7-dehydrocholesterol concentratio... OMIM:270400
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular outflow tract obstruction, Vasculitis, Transient ischemic attack, Elevated circu... ORPHA:365
Atypical Werner Syndrome
Rocker bottom foot, Reduced bone mineral density, Osteolytic defects of the phalanges of the hand... ORPHA:79474
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Combined Oxidative Phosphorylation Deficiency 15
Hypertension, Shortened PR interval, Wolff-Parkinson-White syndrome OMIM:614947
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Anemia, Pancytopenia, Failure to thrive, Slend... OMIM:613658
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Postaxial hand ... OMIM:304120
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive protein concentration, Hyperte... OMIM:619573
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Anemia, Pancytopenia, Elliptocytosis, Leukopenia, Thrombocytopenia, Recurrent frac... ORPHA:2785
Atrial Septal Defect 1
Aortic valve stenosis, Second degree atrioventricular block OMIM:108800
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Williams Syndrome
Osteopenia, Sacral dimple, Genu valgum, Clinodactyly of the 5th finger, Spina bifida occulta, Abn... ORPHA:904
Mucopolysaccharidosis Type 3
Atrioventricular block, Reduced left ventricular ejection fraction ORPHA:581
Leptospirosis
Hyperproteinemia, Hypotension, Retinal hemorrhage, Pericarditis, Subconjunctival hemorrhage, Arrh... ORPHA:509
Acromesomelic Dysplasia 4
Third degree atrioventricular block OMIM:619636
Leopard Syndrome 1
Pulmonic stenosis, Bundle branch block, Third degree atrioventricular block, Hypertrophic cardiom... OMIM:151100
Meier-Gorlin Syndrome 7
Heart block, Second degree atrioventricular block OMIM:617063
Aspartylglucosaminuria
Abnormal cortical bone morphology, Arthritis, Joint stiffness, Abnormal morphology of ulna, Splen... ORPHA:93
African Trypanosomiasis
Myocarditis, Congestive heart failure, Abnormality of circulating cortisol level, Pericarditis, A... ORPHA:3385
Holt-Oram Syndrome
Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Left ventricular non... OMIM:142900

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 Rab33b

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 Rab33b.

No publications found that use IMPC mice or data for Rab33b.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Rab33btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rab33btm46140(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rab33bem1(IMPC)J Exon Deletion Mice
Rab33btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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