Gene Summary

Name:
family with sequence similarity 53, member B
Synonyms:
A930008G19Rik

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
abnormal auditory brainstem response Fam53btm1b(EUCOMM)Hmgu HOM   Early adult 4.31×10-06
increased mean corpuscular volume Fam53btm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased mean corpuscular hemoglobin Fam53btm1b(EUCOMM)Hmgu HOM Early adult 5.76×10-20
decreased prepulse inhibition Fam53btm1b(EUCOMM)Hmgu HOM Early adult 4.84×10-07
decreased erythrocyte cell number Fam53btm1b(EUCOMM)Hmgu HOM Early adult 8.95×10-09
increased circulating fructosamine level Fam53btm1b(EUCOMM)Hmgu HOM Early adult 2.84×10-09
increased circulating sodium level Fam53btm1b(EUCOMM)Hmgu HOM Early adult 2.91×10-06
increased cardiac stroke volume Fam53btm1b(EUCOMM)Hmgu HOM Early adult 1.27×10-05
decreased red blood cell distribution width Fam53btm1b(EUCOMM)Hmgu HOM Early adult 4.16×10-05

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 50% (1 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Chest bone N/A heterozygote 0.0% (0 of 2)
Colon N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 50% (1 of 2)
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

32 Images

Adult LacZ

LacZ Images Wholemount

15 Images

Human diseases caused by Fam53b 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 Fam53b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... OMIM:616216
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Congenital Dyserythropoietic Anemia Type Iii
Melena, Increased circulating iron concentration, Increased mean corpuscular volume, Increased to... ORPHA:98870
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Increased mean corpuscular volume, Atresia of the external auditor... OMIM:300946
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame... OMIM:617021
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Hyperbilirubinemia, Spleno... OMIM:185000
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Hyperphosphatemia, Hypomagnesemia, Thromboc... ORPHA:94093
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia, Neutropenia OMIM:616949
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hypochromia, Po... OMIM:615234
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl... OMIM:612561
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Hearing impairment, Pancytopenia, Macrocytic anemia, Hypomethi... ORPHA:2169
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Pulmonary arterial hyperte... OMIM:613845
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Palpitations, Leukocytosis, Anemia of inadequate production, Ab... ORPHA:86839
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... ORPHA:300298
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Optic disc pa... OMIM:616959
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fraction, Hypocalcemia,... OMIM:620152
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Leukocytosis, Hyponatremia, Abnormal autonomic nervous system physiology, Th... ORPHA:83601
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Hyponatremia, Thrombocytopenia, Tac... ORPHA:449285
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... OMIM:277410
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent otitis media, Increased mean corpuscular v... OMIM:619774
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Portal hypertension, Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Abcd Syndrome
Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Aganglionic megacolon, Tot... OMIM:600501
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Multiple Mitochondrial Dysfunctions Syndrome 7
EEG with burst suppression, Hyperglycinemia, Hypsarrhythmia, Thrombocytopenia, Hypernatremia OMIM:620423
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Sensorineural hearing impairment ORPHA:3225
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... ORPHA:71275
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... OMIM:615751
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Atresia of the external auditory canal, Hearing impairment, Re... OMIM:612562
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Hearing impairment, Mitral regurgitati... ORPHA:261250
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal hemoglobin, Thrombocytopen... ORPHA:848
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Primary Familial Polycythemia
Epistaxis, Polycythemia, Abnormal hemoglobin ORPHA:90042
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Hypomagnesemia, Leukocytosis, Hypocalce... ORPHA:31824
Nephrogenic Diabetes Insipidus
Hypernatremia, Hypovolemia ORPHA:223
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Hearing impairment, Persistence of hemoglobin... OMIM:617052
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Budd-Chiari syndrome, Lymphopenia, Leukopenia... OMIM:127550
Porphyria Due To Ala Dehydratase Deficiency
Hearing impairment, Abnormal circulating porphyrin concentration, Hyponatremia, Abnormal erythroc... ORPHA:100924
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Posttransplant Acute Limbic Encephalitis
EEG with abnormally slow frequencies, Hyponatremia, EEG with focal epileptiform discharges, Abnor... ORPHA:163921
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Bilateral sensorineural hearing imp... OMIM:616943
Herpes Simplex Virus Encephalitis
Leukocytosis, Hyponatremia, EEG abnormality, Neutrophilia, Elevated circulating C-reactive protei... ORPHA:1930
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia, Pulmonic stenosis OMIM:615508
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Anemia, Pericarditis ORPHA:163596
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... ORPHA:3008
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Shwachman-Diamond Syndrome
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume, Hearing im... ORPHA:811
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:620125
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ... ORPHA:97214
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Interictal EEG abnormality, Sideroblastic anemia, Pappenheimer bodies, Eryth... OMIM:301310
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Orthostatic hypotension, Increased circulating renin level OMIM:610600
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Recurrent otitis media, Decreased proportion ... OMIM:619381
Alpha-Thalassemia
Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemoglobin Barts, Hepa... ORPHA:846
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... ORPHA:231226
Late-Onset Familial Hypoaldosteronism
Hypotension, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level ORPHA:556037
Diamond-Blackfan Anemia
Low-set ears, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence... ORPHA:124
Alg8-Cdg
Low-set ears, Optic atrophy, Hyponatremia, Thrombocytopenia, Anemia ORPHA:79325
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:203400
Mirage Syndrome
Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Intracranial hemorrhage, Hyperka... OMIM:617053
Early-Onset Familial Hypoaldosteronism
Hypotension, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level ORPHA:556030
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Thrombocytopen... ORPHA:3240
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Porphyria Variegata
Abnormal circulating porphyrin concentration, Hyponatremia, Abnormal autonomic nervous system phy... ORPHA:79473
Beta-Thalassemia Major
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... ORPHA:231214
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Decreased circulating renin level, Hyponatremia, Reduced blood ... OMIM:300539
Necrotizing Enterocolitis
Hypotension, Shock, Leukocytosis, Bradycardia, Hyponatremia, Thrombocytopenia, Neutropenia ORPHA:391673
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Splenomegaly, Hyponatremia, Myocarditis, Anemia, Myocar... ORPHA:3452
Hyperkalemic Periodic Paralysis
Congestive heart failure, Elevated circulating creatine kinase concentration, Hypokalemia, Hypona... ORPHA:682
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:177735
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hypotension, Hyperkalemia OMIM:264350
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Renal Hypoplasia, Bilateral
Anemia, Hyponatremia, Hyperkalemia, Hypertension ORPHA:97362
Generalized Pustular Psoriasis
Hypoalbuminemia, Congestive heart failure, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia,... ORPHA:247353
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Lymphocytosis, Iron deficiency... ORPHA:1667
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypotension, Macrocytic anemia, Hyperuricemia, Hyponatremia, Eosinophilia, Ort... ORPHA:199299
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Hypotension ORPHA:91354
Acute Adrenal Insufficiency
Normocytic anemia, Hypotension, Increased circulating renin level, Hyperuricemia, Hyponatremia, O... ORPHA:95409
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Legionnaires Disease
Hypotension, Lymphopenia, Splenomegaly, Hyponatremia, Arrhythmia, Myocarditis, Pericarditis ORPHA:549
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Hyponatremia, Arrhythmia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Hearing impairment, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620157
Familial Hypoaldosteronism
Hypotension, Increased circulating renin level, Hyponatremia, Orthostatic hypotension, Hyperkalem... ORPHA:427
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Ch├ędiak-Higashi Syndrome
Epistaxis, Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell m... ORPHA:167
Hereditary Coproporphyria
Hyponatremia, Tachycardia, Long hairs growing from helix of pinna, Abnormal circulating porphyrin... ORPHA:79273
Adenohypophysitis
Hyponatremia, Orthostatic hypotension, Normochromic anemia, Sensorineural hearing impairment ORPHA:95512
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Acquired Methemoglobinemia
Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia ORPHA:464453
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon... ORPHA:1215
Shigellosis
Hypovolemic shock, Microangiopathic hemolytic anemia, Leukocytosis, Hyponatremia, Splenic abscess... ORPHA:810
Panhypophysitis
Hyponatremia, Orthostatic hypotension, Normochromic anemia, Sensorineural hearing impairment ORPHA:95513
Congenital Isolated Acth Deficiency
Hyponatremia, Hypotension ORPHA:199296
Infant Botulism
Hypotension, Hyponatremia, Cardiac arrest, Hypertension, Chronic otitis media ORPHA:178478
Aica-Ribosiduria Due To Atic Deficiency
Low-set ears, Optic atrophy, Hyponatremia OMIM:608688
Lysosomal Acid Lipase Deficiency
Hypotension, Hyperkalemia, Hepatosplenomegaly, Hypersplenism, Hyponatremia, Pulmonary arterial hy... ORPHA:275761
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Erythrocytosis, Familial, 2
Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi... OMIM:263400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Pituitary Apoplexy
Hyponatremia, Hypotension, Hypertension, Normochromic anemia ORPHA:95613
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Cholera
Hypovolemic shock, Hypotension, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, Hypo... ORPHA:173
Castleman Disease
Restrictive cardiomyopathy, Elevated circulating C-reactive protein concentration, Thrombocytopen... ORPHA:160
Sheehan Syndrome
Palpitations, Sensorineural hearing impairment, Hyponatremia, Orthostatic hypotension, Bradycardi... ORPHA:91355
Hartsfield Syndrome
Low-set ears, Posteriorly rotated ears, Hypernatremia OMIM:615465
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Recurrent otitis media, Abnormal lymphocyte morphology, Hyponatremia, Severe B lymph... ORPHA:293978
Addison Disease
Normocytic anemia, Hypotension, Thiamine-responsive megaloblastic anemia, Hyperuricemia, Hyponatr... ORPHA:85138
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Hypertension OMIM:617913
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Japanese Encephalitis
Decreased motor nerve conduction velocity, EEG with burst suppression, Hyponatremia, EEG abnormal... ORPHA:79139
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Rabin-Pappas Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Hyponatremia, Retinal telangiect... OMIM:620155
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Leukocytosis, Hypocalcemia, Hypertension, Hyponatremia, Thrombocytopenia, My... ORPHA:544482
Diarrhea 10, Protein-Losing Enteropathy Type
Low-set ears, Hematochezia, Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertri... OMIM:618183
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Alg12-Cdg
Hypoalbuminemia, Hypocholesterolemia, Sensorineural hearing impairment, Hyponatremia, Thrombocyto... ORPHA:79324
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Sensorineural hearing impairment, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Aplasia/Hypoplasia of the earlobes, Low-set, posteriorly rotated ears, HbH hem... ORPHA:98791
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a... ORPHA:90321
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension, Hyperkalemia, Hyponatremia ORPHA:361
Familial Dysautonomia
Optic atrophy, Hyponatremia, Orthostatic hypotension, Tachycardia, Hypertension ORPHA:1764
Tempi Syndrome
Telangiectasia, Increased hematocrit, Intracranial hemorrhage, Polycythemia ORPHA:284227
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Low-set ears, Overfolded helix, Cupped ear, Persistence of hemoglobin F OMIM:617101
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level ORPHA:90791
Polycythemia Vera
Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch... ORPHA:729
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hyperammonemia, El... OMIM:610505
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,... ORPHA:79277
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re... ORPHA:79330
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Protruding ear, Hyponatremia, Hypokalemia, Hypophosphatemia, H... ORPHA:534
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Gastrointestinal hemorrhage, Hepatosplenomegaly, Hypersplenism, Portal hypertension... ORPHA:731
Liver Disease, Severe Congenital
Elevated circulating alpha-fetoprotein concentration, Increased circulating ferritin concentratio... OMIM:619991
Holoprosencephaly
Optic atrophy, Abnormality of the spleen, Abnormal antihelix morphology, Hyponatremia, Arrhythmia... ORPHA:2162
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Abnormal circulating cholesterol concentration, Increased circulating renin level, H... ORPHA:168558
Lead Poisoning
Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, Increased LDL cholester... ORPHA:330015
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Abnormal circulating cholesterol concentration, Increased circulating renin level, H... ORPHA:289548
Acute Intermittent Porphyria
Hyponatremia, Tachycardia, Hypertension ORPHA:79276
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Bartter Syndrome Type 4
Hypomagnesemia, Protruding ear, Hypokalemia, Hyponatremia, Bilateral sensorineural hearing impair... ORPHA:89938
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segment agangl... OMIM:609136
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Sensorineural hearing impairment, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Splenome... OMIM:219800
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... ORPHA:101085
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Abnormal hemoglobin, Sensorineural hearing impairment, Aganglionic megacolon, Anemia ORPHA:847
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... OMIM:216400
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, HbH hemoglobin, Sensorineural hearing impairment, Hypochromic microcytic anemia, Re... OMIM:301040
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Shock, Hyponatremia, Hyperkalemia, Hypochloremia, Hypovolemia ORPHA:90794
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Polycythemia, Facial telangiectasia, Cerebral hemorrhage, Anemia, Fi... OMIM:600376
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Abnormal autonomic nervous system physiology, Sensorineural hearing... ORPHA:293987
Mend Syndrome
Low-set ears, Aortic valve stenosis, Abnormal auditory evoked potentials, Elevated 8(9)-cholesten... ORPHA:401973
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Low-set ears, Conductive hearing impairment, Decreased circulating renin level, Simple ear, Hypon... OMIM:201750
Alkaptonuria
Aortic valve stenosis, Mitral regurgitation, Mitral stenosis, Hypertension, Methemoglobinemia, He... ORPHA:56

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 Fam53b

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 Fam53b.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Identification of genetic elements in metabolism by high-throughput mouse phenotyping. Nature communications (January 2018) Fam53btm1b(EUCOMM)Hmgu PMC5773596

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Fam53btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Fam53btm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Fam53btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Fam53btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Fam53btm41826(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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