Gene Summary

Name:
chromobox 6
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
increased blood urea nitrogen level Cbx6tm1a(EUCOMM)Wtsi HOM Early adult 1.15×10-19
increased lean body mass Cbx6tm1a(EUCOMM)Wtsi HOM Early adult 1.16×10-05
increased circulating amylase level Cbx6tm1a(EUCOMM)Wtsi HOM Early adult 1.12×10-08
increased bone mineral content Cbx6tm1a(EUCOMM)Wtsi HOM Early adult 7.30×10-07
decreased fasting circulating glucose level Cbx6tm1a(EUCOMM)Wtsi HOM Early adult 8.40×10-07
decreased mean platelet volume Cbx6tm1a(EUCOMM)Wtsi HOM   Early adult 6.36×10-05
decreased total body fat amount Cbx6tm1a(EUCOMM)Wtsi HOM Early adult 1.10×10-05
increased circulating sodium level Cbx6tm1a(EUCOMM)Wtsi HOM Early adult 6.24×10-14
decreased circulating cholesterol level Cbx6tm1a(EUCOMM)Wtsi HOM Early adult 8.11×10-05
increased circulating chloride level Cbx6tm1a(EUCOMM)Wtsi HOM Early adult 2.66×10-07
increased circulating creatinine level Cbx6tm1a(EUCOMM)Wtsi HOM Early adult 6.02×10-08
decreased circulating glucose level Cbx6tm1a(EUCOMM)Wtsi HOM Early adult 2.56×10-07
decreased circulating HDL cholesterol level Cbx6tm1a(EUCOMM)Wtsi HOM   Early adult 5.10×10-06
abnormal tibia morphology Cbx6tm1a(EUCOMM)Wtsi HOM Early adult 1.26×10-06

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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 Forepaw

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Legacy Phenotype Associated Images

View all 128 images

View all 10 images

Human diseases caused by Cbx6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cbx6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Erlenmeyer flask deformity of the femurs, Osteopenia, Hypocholesterolemia, Anemia, ... OMIM:610539
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia OMIM:614736
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Osteoporosis, Impaired glucose tolerance, Hypertriglyceridem... OMIM:610947
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss, Hypercalcemia, Hypernatremia ORPHA:35710
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytope... OMIM:613845
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria OMIM:614817
Pyruvate Carboxylase Deficiency
Failure to thrive, Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hyp... ORPHA:3008
Hyperchlorhidrosis, Isolated
Failure to thrive, Hyperkalemia, Hyponatremia OMIM:143860
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Increased circulating 18-hydroxycortisone level, Increased circulating renin l... OMIM:610600
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Fanconi Renotubular Syndrome 3
Bowing of the legs, Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Ric... OMIM:615605
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypernatremia OMIM:304800
Hypoadrenocorticism, Familial
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:240200
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... ORPHA:94093
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration, Type I diabetes mellitus, Small ... ORPHA:275555
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Azotemia, Familial
Azotemia OMIM:109160
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures, Hyponatremia, Decreased circulating cortisol level ORPHA:199296
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia OMIM:214700
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Webb-Dattani Syndrome
Hip dislocation, Hypernatremia OMIM:615926
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... ORPHA:556037
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Sitosterolemia 1
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Impaired platelet aggregation, C... OMIM:210250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Generalized ... OMIM:612526
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... OMIM:267700
Orthostatic Hypotension 1
Neonatal hypoglycemia, Hypomagnesemia, Brachydactyly, Increased blood urea nitrogen OMIM:223360
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... ORPHA:556030
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612925
Nephrogenic Diabetes Insipidus
Failure to thrive, Hypernatremia ORPHA:223
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron ORPHA:446
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level OMIM:203400
Squalene Synthase Deficiency
2-3 toe syndactyly, Slender long bone, Increased circulating farnesol concentration, Hypocholeste... OMIM:618156
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperaldosteronism, Hyperkalemia OMIM:177735
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Mirage Syndrome
Decreased body weight, Lymphopenia, Talipes equinovarus, Radial club hand, Leukopenia, Overlappin... OMIM:617053
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Osteoporosis, Steatorrhea OMIM:266510
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Decreased body weight, Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, ... ORPHA:1667
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... ORPHA:6
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... ORPHA:181393
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Glycogen Storage Disease Ixa1
Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... OMIM:235400
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... OMIM:615558
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Pelger-Huet Anomaly
Failure to thrive, Neutropenia, Hyposegmentation of neutrophil nuclei, Upper limb undergrowth, Sh... OMIM:169400
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Hyponatremia OMIM:618426
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Central Diabetes Insipidus
Failure to thrive, Weight loss, Hyponatremia ORPHA:178029
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Failure to thrive, Hyperaldosteronism, Hyperkalemia, Hyponatremia OMIM:264350
Late-Onset Isolated Acth Deficiency
Failure to thrive, Decreased circulating cortisol level, Eosinophilia, Normocytic anemia, Macrocy... ORPHA:199299
Alg8-Cdg
Failure to thrive, Talipes equinovarus, Small for gestational age, Brachydactyly, Camptodactyly, ... ORPHA:79325
Necrotizing Enterocolitis
Neutropenia, Leukocytosis, Small for gestational age, Hyponatremia, Abnormal glucose homeostasis,... ORPHA:391673
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... ORPHA:230
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Osteomalacia, Hypocalcemia OMIM:179800
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria OMIM:613090
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Acetabular spurs, Inguinal hernia, Metaphyseal widening, Brachydactyly, Rhizomelia, Elevated circ... OMIM:614376
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Small for gestational age OMIM:616733
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Splenomegaly, Hypocholesterolemia, Rickets OMIM:607765
Alg12-Cdg
Failure to thrive, Abnormal bone ossification, Clinodactyly of the 5th finger, Talipes equinovaru... ORPHA:79324
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Mic... OMIM:274150
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Small for gestational age, Increased serum pyruvate, Elevated circulating sebacic... OMIM:615160
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... OMIM:600903
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hemophagocytosi... OMIM:603553
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, Hypercalcemia, Obesit... ORPHA:251004
Generalized Pseudohypoaldosteronism Type 1
Increased circulating renin level, Failure to thrive in infancy, Hyponatremia, Weight loss, Hyper... ORPHA:171876
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia, Hyponatremia ORPHA:83601
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Aminoaciduria, Hyperammonemia ORPHA:664
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Myeloproliferative disorder, Abnormal erythro... ORPHA:100924
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Hartsfield Syndrome
Ectrodactyly, Syndactyly, Hypernatremia, Craniosynostosis OMIM:615465
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Talipes equinovarus, Camptodactyly, Elevated circulating creatinine concentrat... OMIM:608104
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Hyperkalemic Periodic Paralysis
Hypokalemia, Flexion contracture, Elevated circulating creatine kinase concentration, Hyponatremi... ORPHA:682
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration OMIM:607665
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased serum creatinine, Hypocystinemia OMIM:617744
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria OMIM:602522
Herpes Simplex Virus Encephalitis
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia ORPHA:1930
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu... OMIM:307800
Acute Adrenal Insufficiency
Failure to thrive, Decreased circulating cortisol level, Normocytic anemia, Increased circulating... ORPHA:95409
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Atypical scarring of skin, Hyponatremia ORPHA:79273
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Met... OMIM:600081
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Addison Disease
Failure to thrive, Decreased circulating cortisol level, Normocytic anemia, Increased circulating... ORPHA:85138
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Bartter Syndrome, Type 1, Antenatal
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Osteopenia, Chondrocal... OMIM:601678
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Familial Glucocorticoid Deficiency
Failure to thrive, Ketotic hypoglycemia, Decreased circulating cortisol level, Hypoglycemic seizu... ORPHA:361
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Juvenile Nephropathic Cystinosis
Failure to thrive, Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Glycosuria, Abnorm... ORPHA:411634
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased circulating cortisol level, Severe B lymphocytopenia, Autoimmune thr... ORPHA:293978
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated c... OMIM:608836
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Cholera
Hypokalemia, Hypocalcemia, Hypoglycemia, Abnormal blood ion concentration, Hyponatremia ORPHA:173
Slc35A1-Cdg
Cellulitis, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Met... OMIM:264700
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
2P21 Microdeletion Syndrome
Hypoglycemia, Failure to thrive, Hypocalcemia, Cystinuria ORPHA:163693
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Sho... ORPHA:2457
Snakebite Envenomation
Thrombocytopenia, Hyponatremia ORPHA:449285
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Decreased circulating cortisol level, Hypoglycemia, Hyponatremia, Hyperkalemia ORPHA:90790
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Osteopenia, Osteoporosis, Hypoglycemia ORPHA:369
Bartter Syndrome, Type 2, Antenatal
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Osteopenia, Chondrocal... OMIM:241200
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Failure to thrive, Hypoalbuminemia OMIM:617156
Myh9-Related Disease
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... ORPHA:182050
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Decreased circulating cortisol level, Increased circulating renin level, Hypon... ORPHA:90791
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration, Hype... OMIM:618120
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Bartter Syndrome Type 4
Failure to thrive, Hypomagnesemia, Hypokalemia, Severe failure to thrive, Small for gestational a... ORPHA:89938
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration, Decreased circulating c... OMIM:618838
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Failure to thrive, Hypoglycemia, Small for gestational age OMIM:614702
Lathosterolosis
Talipes equinovarus, Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, S... OMIM:607330
Shigellosis
Splenic abscess, Leukocytosis, Hypoglycemia, Abnormal blood ion concentration, Hyponatremia, Micr... ORPHA:810
Hepatocellular Carcinoma
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Anemia, Polycythemia, Hypoglycemia, T... ORPHA:88673
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hypoglycemia, Abnormality of iron homeostasis, Incr... OMIM:231100
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... ORPHA:90038
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating tyrosine concentration, Failure to thrive, Hypoargininemia, Abnormal circula... ORPHA:79096
Whipple Disease
Splenomegaly, Cachexia, Hyponatremia, Insulin resistance, Anemia ORPHA:3452
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... ORPHA:31824
Diffuse Alveolar Hemorrhage
Leukocytosis, Weight loss, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia ORPHA:90060
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperglycinemia,... OMIM:619386
Familial Hypoaldosteronism
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level ORPHA:427
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Osteopenia, Down-sloping shoulders, Acroos... OMIM:248370
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Aminoaciduria, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes me... OMIM:616026
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Failure to thrive, Hyponatremia OMIM:300200
Laron Syndrome
Short toe, Brachydactyly, Truncal obesity, Hypoglycemia, Hypercholesterolemia ORPHA:633
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Increased level of galactitol in ... ORPHA:79237
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Failure to thrive, Hypophosphatemic rickets, Hypophosphatemia, Delayed epiphyseal ossification, S... OMIM:241530
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Aminoaciduria, Splenomeg... OMIM:219800
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Impaired gluconeogen... OMIM:212140
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Reduced bone mineral density, Decreased circulating cortisol level, Osteoporos... ORPHA:168558
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Hypophosphatemic rickets, Hypophosphatemia, Sparse bone trabecul... OMIM:300554
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Hyperammonemia OMIM:618253
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Flexion contracture, Steatorrhea, Osteopenia, Thrombocytosis, Hypocholesterole... OMIM:212065
Trichohepatoenteric Syndrome 1
Failure to thrive, Small for gestational age, Splenomegaly, Avascular necrosis of the capital fem... OMIM:222470
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Reduced bone mineral density, Decreased circulating cortisol level, Osteoporos... ORPHA:289548
Pituitary Apoplexy
Hypoglycemia, Normochromic anemia, Hyponatremia, Increased circulating cortisol level ORPHA:95613
Dent Disease 1
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Metaphyseal irregulari... OMIM:300009
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Met... OMIM:277440
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Talipes equinovarus, Hyperb... ORPHA:14
Congenital Disorder Of Glycosylation, Type Iit
Small hand, Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron deficiency ... OMIM:618885
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Anemia, Leukopenia, Glycosuria, Abnormal erythrocyte enzyme level,... ORPHA:447
Porphyria Variegata
Anemia, Abnormal circulating porphyrin concentration, Scarring, Hyponatremia ORPHA:79473
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia ORPHA:94088
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Abnormal leukocyte morphology, Neutropenia, Vacuola... ORPHA:167
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Increased C-peptide level, L... ORPHA:79644
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Hyperammonemia, Hyperisoleucinemia, Hypoglycemia, Decreased plasma carnitine, ... ORPHA:2394
Legionnaires Disease
Lymphopenia, Cellulitis, Hyponatremia, Splenomegaly ORPHA:549
Hypocalcemic Vitamin D-Dependent Rickets
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Hypocalcemia, Sparse bone t... ORPHA:289157
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Cockayne Syndrome Type 1
Failure to thrive, Increased blood urea nitrogen, Enamel hypoplasia, Foot joint contracture, Scar... ORPHA:90321
Blue Diaper Syndrome
Increased body weight, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia, Recu... ORPHA:94086
Lysosomal Acid Lipase Deficiency
Failure to thrive, Vacuolated lymphocytes, Steatorrhea, Anemia, Cachexia, Hepatosplenomegaly, Hyp... ORPHA:275761
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia OMIM:613095
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu... ORPHA:93323
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Combined Oxidative Phosphorylation Deficiency 36
Hyperalaninemia, Failure to thrive, Hypoglycemia OMIM:617950
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Osteopenia, Glycosuria, Impaired... ORPHA:2088
Propionic Acidemia
Failure to thrive, Neutropenia, Hyperglycinuria, Hyperammonemia, Osteoporosis, Hypoglycemia, Hype... OMIM:606054
Pyruvate Carboxylase Deficiency
Hyperalaninemia, Increased serum pyruvate, Hypoglycemia OMIM:266150
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Hyponatremia, Obesity, Normochromic anemia ORPHA:91355
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Premature fusion of the radial epiphyseal plates, Decreased circulating cortis... ORPHA:90794
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Takenouchi-Kosaki Syndrome
Overlapping toe, Inguinal hernia, Tapered finger, Camptodactyly, Increased mean platelet volume, ... OMIM:616737
Multiple Myeloma
Splenomegaly, Anemia, Osteopenia, Hyperproteinemia, Elevated circulating creatinine concentration... ORPHA:29073
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Glycogen Storage Disease Ixd
Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:300559
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Diabetes mellitus ORPHA:439232
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hyperammonemia, Leukopenia, Hypoglycemia, Hyperglycinemia, Methylmalonic acide... OMIM:251000
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Normocytic ... ORPHA:49041
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Clinodactyly of the 5th finger, Small for gestational age, Insulin resistance,... ORPHA:73272
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Cellulitis, Elevated circulating creatine ki... ORPHA:36234
Timothy Syndrome
Hypoglycemia, Cutaneous syndactyly, Hypocalcemia, Syndactyly OMIM:601005
Acute Interstitial Pneumonia
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... ORPHA:79126
Infant Botulism
Hyponatremia ORPHA:178478
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Syndromic Diarrhea
Lymphopenia, Inguinal hernia, Splenomegaly, Small for gestational age, Hypoplasia of the thymus, ... ORPHA:84064
Oculocerebrorenal Syndrome Of Lowe
Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Inguinal hernia, Abnormal metaph... ORPHA:534
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration, Decreased circulating c... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration, Decreased circulating c... OMIM:618839
Infantile Liver Failure Syndrome 2
Hypoglycemia, Hyperammonemia OMIM:616483
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Anemia, Thrombocytopenia ORPHA:31150
Adenohypophysitis
Decreased circulating cortisol level, Normochromic anemia, Hyponatremia ORPHA:95512
Glycogen Storage Disease Ixc
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia, Splenomegaly OMIM:613027
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Hyperuricemia, Anemia OMIM:246450
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Cachexia, Elevated circulating creatine kinase concentration, Decreased plasma to... ORPHA:42
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Holoprosencephaly
Congenital diaphragmatic hernia, Hand polydactyly, Abnormality of the spleen, Brachydactyly, Hypo... ORPHA:2162
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Hypoglycemia, Conjugated hyperbili... OMIM:617049
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Anemia, Hepatosplenomegaly, Decreased HDL ... ORPHA:85450
Panhypophysitis
Decreased circulating cortisol level, Normochromic anemia, Hyponatremia ORPHA:95513
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Avascular necrosis of the capital femoral epiphysis, Elevated circulating creatinine concentratio... ORPHA:247691
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hypoglycemia, Hyperammonemia OMIM:615751
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Clinodactyly of the 5th finger, Congenital hip dislocation, Hypocholesterolemi... OMIM:244450
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Leukocytosis, Hemolytic anemia, Hyponatremia, Diabetes mellitus, Thrombocytopenia, ... ORPHA:544482
Familial Dysautonomia
Osteolysis, Hyponatremia ORPHA:1764
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Lymphopenia, Secondary hyperaldosteronism, Decreas... ORPHA:90363
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Reduced C-peptide level, Recurrent hypog... ORPHA:2126
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Transient hyperlipidemia ORPHA:156
Dubowitz Syndrome
Clinodactyly of the 5th finger, Inguinal hernia, Aplastic anemia, Syndactyly, Hypocholesterolemia... OMIM:223370
Nephrotic Syndrome, Type 14
Hypoglycemia, Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
Japanese Encephalitis
Neutrophilia, Talipes equinovarus, Elbow flexion contracture, Hyponatremia ORPHA:79139
Senior-Loken Syndrome 1
Anemia, Elevated circulating creatinine concentration OMIM:266900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoglycemia, Generalized aminoaciduria, Hyp... OMIM:251880
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Acute hyperammonemia, Hyperglycinuria, Hyperammonemia, Hyperleucinemia, Decrea... OMIM:210210
Oncogenic Osteomalacia
Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Fibrous dysplasia of the bones,... ORPHA:352540
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Osteoporosis... ORPHA:264580
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Failure to thrive, Hypocalcemia, Hyperinsulinemic h... OMIM:619991
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... ORPHA:289176
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Marburg Hemorrhagic Fever
Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen... ORPHA:99826
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, H... OMIM:262190
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Short distal phalan... OMIM:210720
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hyperamm... OMIM:212138
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Failure to thrive, Acute hyperammonemia OMIM:210200
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Inguinal hernia, Flexion contracture, Tapered finger, Camptodactyly, Increased m... ORPHA:487796
Renal Cysts And Diabetes Syndrome
Glucose intolerance, Maturity-onset diabetes of the young, Glycosuria, Impaired glucose tolerance... OMIM:137920
Smith-Lemli-Opitz Syndrome
Failure to thrive, Elevated 7-dehydrocholesterol, Overlapping toe, 2-3 toe cutaneous syndactyly, ... OMIM:270400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Brachydactyly, Hyponatremia, Obesity, Hyperglycemia ORPHA:293987
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos... OMIM:114000
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Oligomeganephronia
Elevated circulating creatinine concentration, Congenital diaphragmatic hernia, Small for gestati... ORPHA:2260
Kniest Dysplasia
Hip contracture, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Inguinal hernia, Flar... OMIM:156550
Beta-Ketothiolase Deficiency
Leukocytosis, Hyperammonemia, Hypoglycemia, Thrombocytosis, Hyperuricemia, Weight loss, Hyperglyc... ORPHA:134
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Low plasma citrulline, Hypoglycemia, Impaired gluconeogenesis OMIM:261680
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia, Decreased plasma carnitine, Hyperglycinuria OMIM:201450
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... ORPHA:274
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Tibial bowing, Abnormal iliac wing morphology, Abnormally ossified vertebra... ORPHA:1427
Apolipoprotein C-Ii Deficiency
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... OMIM:207750
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Micromelia, Rhizomelia, Abnormal epiphysis morphology, Bowing of t... ORPHA:175
Glycogen Storage Disease Ia
Hyperlipidemia, Osteoporosis, Hypoglycemia, Hyperuricemia, Xanthelasma, Fasting hypoglycemia OMIM:232200
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Macrothrombocytopenia, Clinodactyly, Neutropenia, Thrombocytopenia, Decreased plat... OMIM:603585
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Osteomalacia, Hypoglycemia, ... ORPHA:3337
Structural Heart Defects And Renal Anomalies Syndrome
Overlapping toe, Elevated circulating creatinine concentration OMIM:617478
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Splenomegaly, Abnormally ossified vertebrae, Abnormality of fibula ... ORPHA:3035
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Hemorrhagic Fever-Renal Syndrome
Decreased body weight, Leukocytosis, Elevated circulating creatinine concentration, Hyperphosphat... ORPHA:340
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Overlapping fingers, Hypoglycemia, Diabet... OMIM:609069
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Glycogen Storage Disease Ib
Hyperlipidemia, Neutropenia, Splenomegaly, Osteoporosis, Hypoglycemia, Hyperuricemia, Xanthelasma OMIM:232220
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Autosomal Recessive Polycystic Kidney Disease
Splenomegaly, Hepatosplenomegaly, Hypersplenism, Hyponatremia, Thrombocytopenia, Increased serum ... ORPHA:731
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... OMIM:300106
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Osteopenia, Osteoporosi... ORPHA:79259
Yellow Fever
Neutrophilia, Hyperbilirubinemia, Leukocytosis, Elevated circulating creatine kinase concentratio... ORPHA:99829
Goodpasture Syndrome
Anemia, Weight loss, Increased blood urea nitrogen OMIM:233450
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Dentinogenesis imperfecta, Short metacarpal, Inguinal hernia, Femor... OMIM:610915
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Failure to thrive, Broad first metatarsal, Hyperbil... OMIM:619534
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Subcutaneous lipoma, Hypercalcemia, Increased circulating cortisol level OMIM:131100
Fructose Intolerance, Hereditary
Failure to thrive, Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Glycosuria, Hyp... OMIM:229600
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Eosinophilia, Decreased retinol-binding pr... ORPHA:449395
Tyrosinemia, Type I
Failure to thrive, Hypophosphatemic rickets, Splenomegaly, Elevated alpha-fetoprotein, Hypermethi... OMIM:276700
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Aminoaciduria, Normocytic anemia, Choriore... ORPHA:91500
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Flared metaphysis... OMIM:211350
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Glycogen Storage Disease Ic
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Xanthelasma OMIM:232240
Visceral Steatosis, Congenital
Hypoglycemia, Hypocalcemia OMIM:228100
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia, Hypokalemia, Increased circulating cortisol level ORPHA:786

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 Cbx6

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 Cbx6.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cbx6tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cbx6tm1a(EUCOMM)Wtsi Cbx6tm1a(EUCOMM)Wtsi