Gene Summary

Name:
cytochrome b5 domain containing 1
Synonyms:
LOC327951

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased leukocyte cell number Cyb5d1tm1.1(KOMP)Vlcg HOM   Early adult 2.74×10-05
increased circulating sodium level Cyb5d1tm1.1(KOMP)Vlcg HOM Early adult 7.69×10-06
convulsive seizures Cyb5d1tm1.1(KOMP)Vlcg HOM   Early adult 5.41×10-06
decreased body length Cyb5d1tm1.1(KOMP)Vlcg HOM Early adult 4.85×10-11
decreased circulating serum albumin level Cyb5d1tm1.1(KOMP)Vlcg HOM   Early adult 7.79×10-06
decreased circulating free fatty acids level Cyb5d1tm1.1(KOMP)Vlcg HOM Early adult 3.91×10-06
hyperactivity Cyb5d1tm1.1(KOMP)Vlcg HOM Early adult 1.56×10-05
increased circulating alkaline phosphatase level Cyb5d1tm1.1(KOMP)Vlcg HOM   Early adult 2.17×10-05
decreased total body fat amount Cyb5d1tm1.1(KOMP)Vlcg HOM Early adult 3.65×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Mammary gland N/A heterozygote 50% (1 of 2)
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.71% (4 of 566)
aorta 0.18% (1 of 566)
bone marrow 0.0%
brain 0.71% (4 of 561)
brainstem 0.35% (2 of 565)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 568)
cerebellum 0.52% (3 of 572)
cerebral cortex 0.35% (2 of 565)
epididymis 12.98% (17 of 131)
esophagus 1.77% (7 of 396)
eye 0.0%
heart 0.35% (2 of 570)
hippocampus 0.53% (3 of 567)
hypothalamus 0.35% (2 of 564)
kidney 3.51% (20 of 569)
large intestine 1.77% (10 of 566)
liver 0.0%
lower urinary tract 0.18% (1 of 565)
lung 0.35% (2 of 569)
lymph node 0.18% (1 of 568)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 563)
ovary 0.18% (1 of 569)
oviduct 0.0%
pancreas 0.71% (4 of 567)
peripheral nervous system 0.36% (2 of 559)
peyers patch 0.0%
pituitary gland 0.18% (1 of 565)
prostate gland 2.12% (12 of 567)
skeletal muscle 0.0%
skin 0.18% (1 of 560)
small intestine 1.57% (9 of 574)
spinal cord 0.53% (3 of 565)
spleen 0.53% (3 of 566)
stomach 2.3% (13 of 564)
striatum 0.53% (3 of 566)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 569)
thalamus 0.0%
thymus 0.0%
thyroid gland 2.81% (16 of 570)
trachea 0.53% (3 of 570)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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

13 Images

Adult LacZ

LacZ Images Section

42 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

13 Images

Embryo LacZ

LacZ images wholemount

12 Images

Sleep Wake

Wake state (bmp file)

10 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Cyb5d1 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 Cyb5d1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperlysinemia, Type I
Anemia, Hyperactivity, Hyperlysinemia, Seizure OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Seizure, Attention deficit hyperactivity disorder OMIM:617600
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Seizure, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Hypoalbumine... OMIM:616000
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Chronic Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Seizure ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia, Seizure ORPHA:529799
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Seizure, Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia, Seizure OMIM:616949
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Seizure OMIM:300271
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Galloway-Mowat Syndrome 8
Seizure, Hypoalbuminemia, Enamel hypoplasia OMIM:618349
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Seizure OMIM:617796
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... ORPHA:1930
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hyponatremia, Generalized-onset seizure, Focal-onset seizure, Myoclonus, Thrombocyt... ORPHA:83601
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Seizure, Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Increased circulating 18-hydroxyco... OMIM:610600
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Seizure OMIM:125800
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Seizure OMIM:615493
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Seizure OMIM:304800
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia, Hypoalbumi... OMIM:209950
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Seizure ORPHA:356996
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating C-... OMIM:616050
Nephrotic Syndrome, Type 8
Seizure, Hypoalbuminemia OMIM:615244
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Neuroleptic Malignant Syndrome
Leukocytosis, Hyponatremia, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated c... ORPHA:94093
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Seizure OMIM:616657
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Seizure OMIM:617113
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Hypoproteinemia, Hypoalbuminemia OMIM:600351
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal impai... OMIM:245570
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hypoal... ORPHA:2070
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Myoclonus, Seizure OMIM:618426
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Generalized clonic seizure, Hyperprolinemia, Incr... ORPHA:3008
Webb-Dattani Syndrome
Hypernatremia, Seizure OMIM:615926
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... ORPHA:158061
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal circulating corticosteron... ORPHA:556037
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Hypoalbuminemia, ... ORPHA:507
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... OMIM:614417
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Seizure ORPHA:436151
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Seizure OMIM:614736
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Seizure, Status epilepticus OMIM:239500
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Nephrogenic Diabetes Insipidus
Hypernatremia, Seizure ORPHA:223
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Hyperactivity, Generalized myo... ORPHA:101039
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Seizure, Lymphopenia, Hypertriglyceridemia OMIM:617575
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal circulating corticosteron... ORPHA:556030
Benign Familial Infantile Epilepsy
Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Focal... ORPHA:306
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Seizure, Myoclonus, Hypertriglyceridemia OMIM:615924
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Diabetes Mellitus, Permanent Neonatal, 2
Flexion contracture, Bilateral tonic-clonic seizure with focal onset, Reduced C-peptide level, Bi... OMIM:618856
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Bilateral tonic-clonic seizure, Focal sensory seizure with visual features... OMIM:615400
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Focal-ons... ORPHA:2382
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia OMIM:619013
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Seizure OMIM:240200
Alg6-Cdg
Seizure, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Galloway-Mowat Syndrome 6
Seizure, Hypoalbuminemia OMIM:618347
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hyperactivity, Elevated plasma citrulline,... ORPHA:247585
Dravet Syndrome
Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced seizure, Generalize... OMIM:607208
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyperaldosteronism, Hyponatremia, Increased circulating renin level OMIM:177735
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Camptodactyly, Thrombocytopenia, Hypoalbuminemia OMIM:608104
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased ... ORPHA:86816
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hypoalbuminemia, Lymphocyt... ORPHA:1667
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hypoalbuminemia OMIM:618805
Alg1-Cdg
Seizure, Hypoalbuminemia ORPHA:79327
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus ORPHA:22
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Myoclonus, Seizure ORPHA:163921
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... OMIM:616056
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder OMIM:619639
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bilateral tonic-clonic seiz... OMIM:619605
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Central Diabetes Insipidus
Hyponatremia, Seizure ORPHA:178029
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity, Seizure, Myoclonus OMIM:605899
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Atonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Fo... ORPHA:725
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Seizure, Neutropeni... ORPHA:540
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:101046
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Neutropenia, Anemia, Hypoalbuminemia, T... ORPHA:292
Hereditary Coproporphyria
Atypical scarring of skin, Hyponatremia, Abnormal circulating porphyrin concentration, Seizure ORPHA:79273
Landau-Kleffner Syndrome
Attention deficit hyperactivity disorder, Atypical absence seizure, Hyperactivity, Focal myocloni... ORPHA:98818
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hyponatremia, Hypoglycemic seizures ORPHA:199296
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus OMIM:615127
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Attention ... OMIM:301008
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Acute myeloid leukemia, Abnormal mean c... ORPHA:86839
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Seizure OMIM:613402
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyperaldosteronism, Hyponatremia OMIM:264350
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Hypomagnesemia, Thrombocytopenia OMIM:613845
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (ab... OMIM:619157
Myoclonic Epilepsy Of Infancy
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Febrile seizure (within the a... ORPHA:86909
Episodic Ataxia, Type 9
Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Seizure, Infantile spasms OMIM:619031
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyponatremia, Flexion contracture, Hyperkalemia, Elevated circulating creatine kinas... ORPHA:682
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Myeloproliferative disorder, An... ORPHA:100924
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hypergalacto... ORPHA:247598
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Thrombocytopenia, Hyperbilirubinemia, Hypoalbuminemia, Seizure OMIM:251880
Aminoacylase 1 Deficiency
Hyperactivity, Seizure OMIM:609924
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Hepatoportal Sclerosis
Leukopenia, Splenomegaly, Anemia, Hyperbilirubinemia, Hypoalbuminemia, Hypersplenism, Thrombocyto... ORPHA:64743
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Seizure ORPHA:91354
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Status epilepticus OMIM:613721
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circ... ORPHA:171876
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Hyperactivity, Generalized myoclonic ... OMIM:271980
Alg8-Cdg
Hyponatremia, Seizure, Anemia, Abnormality of subcutaneous fat tissue, Camptodactyly, Thrombocyto... ORPHA:79325
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Epilepsy, Pyridoxine-Dependent
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus OMIM:266100
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Generalized-onset seizure, Hyperactivity, Hypomagnesemia, Status epilepticus OMIM:618314
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal impaired awareness ... OMIM:617831
Rasmussen Subacute Encephalitis
Focal sensory seizure with somatosensory features, Hyperactivity, Bilateral tonic-clonic seizure ... ORPHA:1929
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Thrombocytosis, Abnormal subcutaneous fat tissue distribution, Hypoalbuminem... OMIM:212065
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Seizure ORPHA:85288
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus, Attention deficit hyperactivity disorder OMIM:619191
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure OMIM:300928
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Lung abscess, Anemia, Hypoalbuminemia, Liver abscess ORPHA:67
Leigh Syndrome With Nephrotic Syndrome
Bilateral tonic-clonic seizure with focal onset, Hypoalbuminemia ORPHA:255249
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Generalized myoc... OMIM:618587
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Thro... OMIM:619301
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Splenomegaly, Myoclonus ORPHA:139406
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Cellulitis, Elevated circulating creatinine concentrat... ORPHA:36234
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced intraabdominal adipose tissue, Hyperactivity, Generalized lipodystrophy, Reduced subcutan... ORPHA:363400
Familial Focal Epilepsy With Variable Foci
Deja vu aura, Focal-onset seizure, Focal aware seizure, Focal impaired awareness seizure, Nocturn... ORPHA:98820
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Focal-onset seizure, Anemia, Bilateral tonic-clonic seizure, Myoclonic seizu... OMIM:619302
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Colchicine Poisoning
Hypokalemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophos... ORPHA:31824
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Flexion contracture, Splenomegaly, Neutropenia, Anemia, Hypoalbuminemia, Thrombocytop... OMIM:617303
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Hyponatremia, Hyperkalemia, Seizure, Anemia, Lymphopenia, Thrombo... OMIM:617053
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Lissencephaly 10
Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-onset sei... OMIM:618873
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Decreased proportion of naive T cells, Splenomegaly, Elevated circulating C-re... OMIM:619381
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Myoclonus, Hypoalbuminemia, Seizure, Status e... OMIM:619055
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Tonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Epileptic spasm, ... OMIM:619606
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Hypokalemia, Leukocytosis, Elevated circulating creatinine concentration, Hyponat... ORPHA:90038
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Chédiak-Higashi Syndrome
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, ... ORPHA:167
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Seizure OMIM:248510
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic ... ORPHA:101071
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... OMIM:605021
Avian Influenza
Leukopenia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Elevated cir... ORPHA:454836
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Phenylketonuria
Hyperactivity, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Seizure, Attention deficit ... OMIM:261600
Alg12-Cdg
Hyponatremia, Seizure, Abnormal adipose tissue morphology, B lymphocytopenia, Hypoalbuminemia, Ca... ORPHA:79324
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Generalized myoclonic seizure, Seizure OMIM:618090
Necrotizing Enterocolitis
Neutropenia, Leukocytosis, Thrombocytopenia, Hyponatremia ORPHA:391673
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Focal-onse... OMIM:619317
Hyperphosphatasia With Mental Retardation Syndrome 6
Flexion contracture, Hyperactivity, Knee flexion contracture, Elevated circulating creatine kinas... OMIM:616809
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus OMIM:613608
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Hepatosplenomegaly, Hypoalbuminemia ORPHA:367
Porphyria Variegata
Hyponatremia, Anemia, Scarring, Seizure, Abnormal circulating porphyrin concentration ORPHA:79473
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hyponatremia, Normocytic anemia, Hypercalcemia, Decreased circulating cortisol leve... ORPHA:199299
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Hypoalbuminemia, Camptodactyly, Umbilical hernia, Seizure, Joint contracture of th... OMIM:235510
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Hyponatremia, Autoimmune thrombocytopenia, Decreased circulating ... ORPHA:293978
Generalized Epilepsy With Febrile Seizures-Plus
Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Focal-onset seizure, Fe... ORPHA:36387
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Seizure, Elbow flexion contracture OMIM:619470
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Bilateral tonic-clonic seizure, Seizure precipitated by febrile infection, Status epilepticus wit... ORPHA:363549
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Early on... ORPHA:3006
Snakebite Envenomation
Thrombocytopenia, Hyponatremia ORPHA:449285
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Abnormal blood i... ORPHA:37042
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:95409
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia OMIM:174900
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Anemia, Hemolytic anemia, Hypoalbuminemia, Seizure OMIM:619487
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Atonic seizure, Focal motor seizure, Generalized-onset seizure, Generalized myo... ORPHA:178469
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Flexion contracture, Atypical scarring of skin, Decreased serum iron, Decre... ORPHA:89842
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Legionnaires Disease
Hyponatremia, Cellulitis, Lymphopenia, Splenomegaly ORPHA:549
Whipple Disease
Hyponatremia, Splenomegaly, Anemia, Seizure, Myoclonus ORPHA:3452
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia, Seizure OMIM:612716
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Focal-onset seizure, Focal impaired awareness seizure, Seizure, St... ORPHA:330050
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Seizure OMIM:616977
Autosomal Recessive Non-Syndromic Intellectual Disability
Generalized-onset seizure, Hyperactivity, Focal-onset seizure, Epileptic spasm, Seizure ORPHA:88616
Galloway-Mowat Syndrome 3
Hiatus hernia, Camptodactyly, Seizure, Hypoalbuminemia OMIM:617729
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:613090
Hartsfield Syndrome
Hypernatremia OMIM:615465
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, Seizure OMIM:617169
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Abetalipoproteinemia
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Acanthocytosis, Anemia, Hyperbiliru... ORPHA:14
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Anemia, Hyperbilirubinemia, Hypoalbumin... ORPHA:88673
Cholera
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Seizure ORPHA:173
Combined Oxidative Phosphorylation Deficiency 37
Myoclonic seizure, Hyperalaninemia, Hypoalbuminemia OMIM:618329
Xfe Progeroid Syndrome
Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Enamel hypoplasia OMIM:610965
Shigellosis
Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Abscess, Febrile seizure (within th... ORPHA:810
Xq25 Microduplication Syndrome
Hyperactivity, Seizure ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Seizure OMIM:300979
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hyponatremia OMIM:300200
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Inguinal hernia, Focal impaired awareness seizure, Focal tonic seizure, Bilateral ... ORPHA:485350
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Decreased circulating cortisol level, Hyponatremia, Seizure ORPHA:90790
Seizures, Benign Familial Neonatal, 1
Bilateral tonic-clonic seizure, Focal clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Focal... ORPHA:208447
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Hypokalemia, Leukopenia, Elevated circulating creatinine concentr... ORPHA:99826
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Familial Glucocorticoid Deficiency
Hyperkalemia, Decreased circulating cortisol level, Hyponatremia, Hypoglycemic seizures ORPHA:361
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Focal impaired awareness seizure, S... ORPHA:382
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Elevated circulating C-reactive protein concentra... OMIM:607115
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Leukocytosis, Hyperactivity, Splenomegaly, Hypervalinemia, Elevated circulating c... OMIM:615673
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Chin myoclonus, Focal myoclonic seizure, Febrile seizure (withi... ORPHA:263516
Episodic Ataxia, Type 5
Atypical absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mon... OMIM:613855
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Leukopenia, Flexion contracture, Hernia, Anemia, Hypoalbuminemia, Thrombocyto... ORPHA:505248
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:85138
Japanese Encephalitis
Hyponatremia, Neutrophilia, Myoclonus, Focal motor seizure, Bilateral tonic-clonic seizure, Elbow... ORPHA:79139
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Decreased circulating cortisol level, Hyponatremia, Increased circulating renin level ORPHA:90791
Galloway-Mowat Syndrome 1
Hiatus hernia, Hypoalbuminemia, Camptodactyly, Seizure, Joint contracture of the hand OMIM:251300
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Trichohepatoenteric Syndrome 1
Thrombocytosis, Hypermethioninemia, Abnormality of iron homeostasis, Hypoalbuminemia, Increased s... OMIM:222470
Al Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia ORPHA:85443
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:602522
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:79137
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level, Seizure... ORPHA:941
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hyponatremia, Vacuolated lymphocytes, Hypercholesterolemia, Hyperkalemia, Xan... ORPHA:275761
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure, Abnormal circulating creatine kinase concentration ORPHA:369840
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Anemia, Hypoalbuminemia, Scarring, Atrophic scars ORPHA:79396
Insulin-Resistance Syndrome Type B
Leukopenia, Abnormal circulating lipid concentration, Hypotriglyceridemia, Hypoalbuminemia, Abnor... ORPHA:2298
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Bilateral tonic-clonic seizure with focal onset, Seizure precipitated ... ORPHA:363558
Adenohypophysitis
Normochromic anemia, Decreased circulating cortisol level, Hyponatremia ORPHA:95512
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Hyperactivity, Generalized non-motor (absence) seizure, Seizure OMIM:300558
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:609800
Myoclonic-Astatic Epilepsy
Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Focal-onset seizure, Generalized my... ORPHA:1942
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Infant Botulism
Hyponatremia ORPHA:178478
Pituitary Apoplexy
Normochromic anemia, Hyponatremia, Increased circulating cortisol level ORPHA:95613
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Panhypophysitis
Normochromic anemia, Decreased circulating cortisol level, Hyponatremia ORPHA:95513
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hyponatremia, Hyperkalemia, Hypocalcemia, Seizure, Hemolytic anemia, Thrombocytopen... ORPHA:544482
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Juvenile Polyposis Of Infancy
Anemia, Hypoalbuminemia, Subcutaneous lipoma, Refractory anemia ORPHA:79076
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Focal-onset sei... ORPHA:168491
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Hypercholesterolemia, Contractures of the large jo... ORPHA:2457
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypocalcemia, Inguinal hernia, Anemia, Hypoalbuminemia, Unconjugated hyperbilirubin... OMIM:613658
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized t... ORPHA:289266
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Seizure OMIM:613192
Juvenile Huntington Disease
Hyperactivity, Seizure, Myoclonus ORPHA:248111
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Tonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years)... OMIM:618917
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Atypical scarring of skin, Hypercholesterolemia, Hypoammonemia, Seizur... ORPHA:534
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Tonic seizure, Seizure, Infantile spasms OMIM:619239
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Seizure, Attention deficit hyperactivity disorder OMIM:618504
Familial Dysautonomia
Hyponatremia, Seizure ORPHA:1764
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Seizure, Anemia, Congenital thrombocy... OMIM:618886
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration,... OMIM:617099
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Decreased circulating cortisol lev... ORPHA:168558
Pelger-Huet Anomaly
Giant platelets, Seizure, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil... OMIM:169400
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Inguinal hernia, Macrocytic anemia, Attention def... OMIM:614294
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Decreased circulating cortisol lev... ORPHA:289548
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Decreased plasma total carnitine, Febrile seizure (within the age range of... ORPHA:42
Sheehan Syndrome
Normochromic anemia, Decreased circulating cortisol level, Hyponatremia ORPHA:91355
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:615516
Bartter Syndrome Type 4
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hyperaldosteronism, ... ORPHA:89938
Acute Intermittent Porphyria
Hyponatremia, Seizure ORPHA:79276
Familial Infantile Myoclonic Epilepsy
Generalized myoclonic seizure, Focal-onset seizure, Limb myoclonus, Bilateral tonic-clonic seizur... ORPHA:352582
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure, Elevated hemoglobin A1c OMIM:619278
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Focal myoclonic seizure, Focal impaired awareness seizure, Hyperaldosteronism, Seizu... ORPHA:369929
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Seizure, Infantile spasms ORPHA:250972
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Seizure, Attention deficit hyperactivity disorder OMIM:301013
Holoprosencephaly
Hyponatremia, Congenital diaphragmatic hernia, Omphalocele, Abnormality of the spleen, Seizure ORPHA:2162
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Generalized myoclonic seizure, Hypocystinemia, Hypouricemia, Hypertaur... OMIM:615501
Developmental And Epileptic Encephalopathy 4
Generalized myoclonic seizure, Generalized tonic seizure, Epileptic spasm, Bilateral tonic-clonic... OMIM:612164
Potocki-Lupski Syndrome
Hypocholesterolemia, Hyperactivity, Seizure OMIM:610883
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Seizure OMIM:615824
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Multifocal seizures, Elevated circulating acylcarnitine concentration, Gen... ORPHA:480864
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mo... ORPHA:64280
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Splenomegaly, Inguinal hernia, Umbilical hernia, Seizure OMIM:252900
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Seizure OMIM:300143
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia ORPHA:171
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure, Hypokalemia, Decreased circulating renin level OMIM:615474
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Seizure, Focal-onset seizure, Generalized-onset seizure OMIM:610042
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bilateral tonic-clonic seizure, Nocturnal seizures, Myoclonus, Attention deficit hyperactivity di... OMIM:619725
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Atonic seizure, Megaloblastic anemia, Hypoglycinemia, Generalized myoclonic seizure, Inguinal her... ORPHA:79351
Cln5 Disease
Generalized-onset seizure, Hyperactivity, Focal myoclonic seizure, Focal-onset seizure, Seizure ORPHA:228360
X-Linked Creatine Transporter Deficiency
Hyperactivity, Seizure, Abnormal circulating creatine concentration ORPHA:52503
Cystinosis, Nephropathic
Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Splenomegaly, Decreased plasma carnitine, Hy... OMIM:219800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Increased C-peptide level, Decreased plasma carnitine, Mildly elevated cre... ORPHA:71212
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Splenomegaly, Seizure, Hernia OMIM:252930
Nivelon-Nivelon-Mabille Syndrome
Elevated circulating creatine kinase concentration, Bilateral tonic-clonic seizure, Focal-onset s... OMIM:600092
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Seizure, Hyponatremia ORPHA:293987
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Lafora Disease
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Genera... ORPHA:501
X-Linked Cerebral Adrenoleukodystrophy
Hamstring contractures, Hyperactivity, Decreased circulating cortisol level, Limb myoclonus, Abno... ORPHA:139396
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal hyperkinetic seizure, Attention deficit... ORPHA:98784
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Increased serum bile acid concentration, Hyponatremia, Splenomegaly, Hyperspl... ORPHA:731
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly, Seizure OMIM:252920
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hyperhomocystinemia, Generalized myoclonic seizure, Focal-onset seizure, Cystathioninemia, Genera... ORPHA:395
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Elevated circulating creatine kinase concentration, Wrist flexion contr... OMIM:618733
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Decreased circulating cortisol level, Hyponatremia, Hypochloremia ORPHA:90794
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Myoclonic spasms, Hypocalcemia, Hypocalcemic tetany, Hyperaldosteronism, Hypomagnesemia, Bilatera... ORPHA:73224
Argininemia
Hyperactivity, Hyperargininemia, Seizure, Hyperammonemia OMIM:207800
Legius Syndrome
Multiple lipomas, Hyperactivity, Xanthelasma, Acute monocytic leukemia, Seizure, Attention defici... ORPHA:137605
Early Infantile Epileptic Encephalopathy
Atonic seizure, Generalized clonic seizure, Hyperactivity, Focal-onset seizure, Febrile seizure (... ORPHA:1934
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Increased circ... ORPHA:26793
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Focal sensory sei... OMIM:254780
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly, Hypoalbuminemia ORPHA:75565
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Pmm2-Cdg
Lipodystrophy, Multiple joint contractures, Impaired neutrophil chemotaxis, Abnormal subcutaneous... ORPHA:79318
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Myoclonic spasms, Multiple joint contractures, Hyperactivity, Bilateral tonic-clonic seizure, Inf... ORPHA:447997

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 Cyb5d1

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 Cyb5d1.

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

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Cyb5d1tm1.1(KOMP)Vlcg PMC5503261

Order Mouse and ES Cells

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

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Cyb5d1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Cyb5d1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter