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Gene: Cbx6 MGI:3512628

Gene Summary

Name:

chromobox 6

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased blood urea nitrogen level	Cbx6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.15×10^-19
increased lean body mass	Cbx6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.16×10^-05
increased circulating amylase level	Cbx6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.12×10^-08
increased bone mineral content	Cbx6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.30×10^-07
decreased fasting circulating glucose level	Cbx6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.40×10^-07
decreased mean platelet volume	Cbx6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.36×10^-05
decreased total body fat amount	Cbx6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.10×10^-05
increased circulating sodium level	Cbx6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.24×10^-14
decreased circulating cholesterol level	Cbx6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.11×10^-05
increased circulating chloride level	Cbx6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.66×10^-07
increased circulating creatinine level	Cbx6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.02×10^-08
decreased circulating glucose level	Cbx6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.56×10^-07
decreased circulating HDL cholesterol level	Cbx6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.10×10^-06
abnormal tibia morphology	Cbx6^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.26×10^-06

Download data as: TSV XLS

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Legacy Phenotype Associated Images

Cbx6^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

Cbx6^{tm1a(EUCOMM)Wtsi}
forearm, HOM, Male, WTSI

Cbx6^{tm1a(EUCOMM)Wtsi}
body, HOM, Male, WTSI

Cbx6^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

View all 128 images

Cbx6^{tm1a(EUCOMM)Wtsi}
decreased dentate gyrus size, dentate gyrus, HOM, Male, WTSI

Cbx6^{tm1a(EUCOMM)Wtsi}
WT, Male, WTSI

Cbx6^{tm1a(EUCOMM)Wtsi}
corpus callosum, decreased corpus callosum size, HOM, Male, WTSI

Cbx6^{tm1a(EUCOMM)Wtsi}
dentate gyrus, decreased dentate gyrus size, HOM, Male, WTSI

Cbx6^{tm1a(EUCOMM)Wtsi}
WT, Male, WTSI

View all 10 images

Cbx6^{tm1a(EUCOMM)Wtsi}
cornea/lens fusion, HOM, Female, WTSI

Cbx6^{tm1a(EUCOMM)Wtsi}
abnormal eyelid morphology, right eye, narrow eye opening, HOM, Female, WTSI

Cbx6^{tm1a(EUCOMM)Wtsi}
persistence of hyaloid vascular system, HOM, Female, WTSI

Cbx6^{tm1a(EUCOMM)Wtsi}
cornea/lens fusion, HOM, Female, WTSI

Cbx6^{tm1a(EUCOMM)Wtsi}
abnormal retinal blood vessel pattern, HOM, Male, WTSI

Cbx6^{tm1a(EUCOMM)Wtsi}
abnormal epidermal pigmentation, HOM, Female, WTSI

Cbx6^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

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.

Human diseases associated with Cbx6 (0 diseases)
Human diseases predicted to be associated with Cbx6 (340 diseases)

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	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)	Cbx6^{tm1a(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Cbx6^{tm1a(EUCOMM)Wtsi} Cbx6^{tm1a(EUCOMM)Wtsi}

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Gene: Cbx6 MGI:3512628

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Legacy Phenotype Associated Images

Human diseases caused by Cbx6 mutations

Histopathology

IMPC related publications