Gene Summary

Name:
EPS8-like 2
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal snout morphology Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 3.80×10-05
decreased circulating fructosamine level Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 5.38×10-06
increased circulating aspartate transaminase level Eps8l2tm1b(EUCOMM)Wtsi HOM   Early adult 8.77×10-05
abnormal startle reflex Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 2.66×10-09
impaired cued conditioning behavior Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 9.56×10-07
decreased circulating serum albumin level Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 1.97×10-05
decreased circulating calcium level Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 1.69×10-05
decreased circulating cholesterol level Eps8l2tm1b(EUCOMM)Wtsi HOM   Early adult 5.38×10-05
increased circulating alkaline phosphatase level Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 6.25×10-06
decreased startle reflex Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 2.30×10-07
decreased prepulse inhibition Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 5.60×10-10
abnormal ear morphology Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 3.81×10-14

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
Brain  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 50% (1 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue 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)
Heart 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)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
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%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 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%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
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.

Adult LacZ

LacZ Images Wholemount

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Eps8l2 mutations

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

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

The table below shows human diseases associated to Eps8l2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637

The table below shows human diseases predicted to be associated to Eps8l2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Dementia, Hypoalbuminemia, Cognitive ... OMIM:208920
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairment, Dyst... OMIM:616267
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia OMIM:613752
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... OMIM:246700
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... ORPHA:64753
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cognitive impairment ORPHA:172
Diarrhea 13
Hypoalbuminemia OMIM:620357
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... ORPHA:94090
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Hearing impairment, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Autoimmune Hypoparathyroidism
Confusion, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemic... ORPHA:36913
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Intention tremor OMIM:610539
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Hearing impairment OMIM:618349
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Hypocalcemia ORPHA:163693
Ring Chromosome 10 Syndrome
Wide nasal bridge, Abnormal antihelix morphology, Large earlobe, Hypocalcemia, Low-set ears ORPHA:1438
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, T... ORPHA:247585
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Low-set ears ORPHA:79320
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Oculoskeletodental Syndrome
Hypercalcemia, Sensorineural hearing impairment, Wide nasal bridge, Hypocalcemia, Conductive hear... ORPHA:557003
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Saccharopinuria
Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme ... ORPHA:3124
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho... ORPHA:99845
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Cognitive impairment OMIM:612462
Adamantinoma
Hypercalcemia ORPHA:55881
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Se... OMIM:242150
Hypotonia-Cystinuria Syndrome
Macrotia, Posteriorly rotated ears, Hypocalcemia OMIM:606407
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Reni Syndrome
Mental deterioration, Sensorineural hearing impairment, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
S-Adenosylhomocysteine Hydrolase Deficiency
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... ORPHA:88618
Nephrotic Syndrome, Type 8
Sensorineural hearing impairment, Hypoalbuminemia OMIM:615244
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Squalene Synthase Deficiency
Posteriorly rotated ears, Increased circulating farnesol concentration, Decreased LDL cholesterol... OMIM:618156
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Intention tremor, Hypoalbuminemia, Mental deterioration, Action tremor OMIM:254900
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia, Low-set ears OMIM:608104
Albers-Schönberg Osteopetrosis
Hypocalcemia, Hearing impairment ORPHA:53
Neuroleptic Malignant Syndrome
Hyponatremia, Oculogyric crisis, Elevated circulating creatine kinase concentration, Tremor, Hype... ORPHA:94093
Dahlberg-Borer-Newcomer Syndrome
Wide nasal bridge, Hypocalcemia ORPHA:1563
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Low-set ears, Hypomagnesemia OMIM:618183
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529799
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Hyperphosphatemia, Hypocalcemia, Low-set ears, Hypocalcemic seizures OMIM:241410
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Steatorrhea ORPHA:2070
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Oculoskeletodental Syndrome
Hypercalcemia, Wide nasal bridge, Hypocalcemia, Hearing impairment OMIM:618440
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... ORPHA:94089
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Leishmaniasis
Hypoalbuminemia ORPHA:507
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Short nose, Hypercalcemia, Low-set ears OMIM:614732
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Autosomal Dominant Hypocalcemia
Writer's cramp, Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Peroxisome Biogenesis Disorder 3B
Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Steatorrhea, ... OMIM:266510
Potocki-Lupski Syndrome
Hearing impairment, Hypocholesterolemia OMIM:610883
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Wide nasal bridge, Hypoproteinemia, Hypocalcemia, Low-set ears OMIM:235255
Hepatoportal Sclerosis
Cognitive impairment, Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
X-Linked Agammaglobulinemia
Sensorineural hearing impairment, Hypocalcemia ORPHA:47
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Steatorrhea OMIM:602579
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Timothy Syndrome
Hypocalcemia OMIM:601005
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Congenital Disorder Of Glycosylation, Type Ia
Tremor, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Macrotia, Intention tremor OMIM:212065
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Bacterial Toxic-Shock Syndrome
Confusion, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... ORPHA:36234
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Hypocalcemia, Cognitive impairment OMIM:618476
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Sensorineural hearing impairment, Hyperammonemia, Decreased serum ... OMIM:617093
Pseudohypoparathyroidism Type 1C
Calcinosis, Confusion, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, ... ORPHA:79444
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Sensorineural hearing impairment, Hypertriglyceride... ORPHA:540
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Sensorineural hearing impairment, Hypoalbuminemia, Progressive neurologic deteri... OMIM:618329
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Sensorineural hearing impairment, Hypercalcemia ORPHA:2668
Non-Functioning Paraganglioma
Tremor, Conductive hearing impairment, Pulsatile tinnitus, Hypercalcemia ORPHA:94080
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Wilson Disease
Limb dystonia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Tremor, Hand trem... OMIM:277900
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Congenital Disorder Of Glycosylation, Type Ig
Sensorineural hearing impairment, Abnormal pinna morphology, Hypocalcemia OMIM:607143
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Hearing impairment OMIM:259700
Pseudohypoparathyroidism Type 1A
Calcinosis, Confusion, Sensorineural hearing impairment, Choreoathetosis, Hyperphosphatemia, Hypo... ORPHA:79443
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Wide nasal bridge, Hypocholesterolemia OMIM:618810
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia, Low-set ears ORPHA:1655
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Sensorineural hearing i... ORPHA:96180
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Wide nasal bridge OMIM:617303
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Hypocalcemia ORPHA:3426
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Dystonia OMIM:619487
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Sensorineural hearing impairment, Wide nasal bridge, Hypoalbuminemia, Low-set ears, Conductive he... OMIM:235510
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia OMIM:251880
Alg12-Cdg
Hyponatremia, Abnormal pinna morphology, Sensorineural hearing impairment, Hypoalbuminemia, Hypoc... ORPHA:79324
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Microtia, Anotia, Hypocalcemia, Bilateral sensorineural hear... ORPHA:2306
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Trichohepatoenteric Syndrome 1
Increased serum iron, Hypoalbuminemia, Microtia, Cognitive impairment, Hypermethioninemia, Abnorm... OMIM:222470
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... ORPHA:14
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... ORPHA:89842
Galloway-Mowat Syndrome 1
Macrotia, Hypoalbuminemia, Low-set ears, Dystonia OMIM:251300
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment OMIM:103580
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Hypophosphatasia
Hypercalcemia ORPHA:436
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Steatorrhea OMIM:212750
Xfe Progeroid Syndrome
Hypoalbuminemia, Hearing impairment OMIM:610965
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, Wide nasal bridge, Hypocalcemia, Cognitive impairment, Macrotia ORPHA:175
Ethylene Glycol Poisoning
Confusion, Hyperkalemia, Hypocalcemia ORPHA:31826
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Low-set ears OMIM:617729
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphosphatemia, H... ORPHA:466650
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia OMIM:617913
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Short nose, Hypercalcemia, Attention deficit hyperactivity disorder ORPHA:476126
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Hennekam Syndrome
External ear malformation, Wide nasal bridge, Hypocalcemia, Low-set ears, Conductive hearing impa... ORPHA:2136
Autosomal Recessive Malignant Osteopetrosis
Tremor, Hypocalcemia, Hearing impairment, Hypophosphatemia ORPHA:667
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Cognitive impairment, Dystonia ORPHA:309246
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Conductive hearing impairment, Pulsatile tinnitus, Hypercalcemia ORPHA:276621
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose, Hypoalbuminemia ORPHA:505248
Craniofacioskeletal Syndrome
Microtia, Posteriorly rotated ears, Hypocalcemia OMIM:300712
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ... ORPHA:845
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Microtia, Posteriorly rotated ears, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Kaufman Oculocerebrofacial Syndrome
Short nose, Abnormal pinna morphology, Low-set ears, Hypocholesterolemia OMIM:244450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, External ear malformation, Wide nasal bridge,... ORPHA:438216
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig... ORPHA:2298
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Pearson Syndrome
Hypomagnesemia, Steatorrhea, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia, Hearin... ORPHA:699
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Dubowitz Syndrome
Short attention span, Wide nasal bridge, Protruding ear, Low-set ears, Hypocholesterolemia OMIM:223370
Osteopetrosis With Renal Tubular Acidosis
Conductive hearing impairment, Hypocalcemia, Macrotia, Elevated circulating creatine kinase conce... ORPHA:2785
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Progressive sensorineural hearing impairment, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Posteriorly rotated ears, Wide nasal bridge, Protruding ear, Hypocalcemia, Attention deficit hype... OMIM:620330
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Cranioectodermal Dysplasia 1
Wide nasal bridge, Hypocalcemia, Low-set ears, Protruding ear OMIM:218330
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Gitelman Syndrome
Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Primary hyperaldosteronism, Tinnitus ORPHA:358
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hearing impairment, Hypophosphatemia OMIM:156400
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Confusion, Elevated circulat... ORPHA:99826
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
22Q11.2 Deletion Syndrome
Wide nasal bridge, Overfolded helix, Hypocalcemia, Attention deficit hyperactivity disorder, Low-... ORPHA:567
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Low-set ears ORPHA:79076
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Hypercalcemia ORPHA:97289
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment, Hypercalcemia OMIM:602080
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Posteriorly rotated ears, Low-set ears OMIM:618598
Smith-Lemli-Opitz Syndrome
Posteriorly rotated ears, Wide nasal bridge, Hypoalbuminemia, Elevated circulating 7-dehydrochole... OMIM:270400
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Liver Disease, Severe Congenital
Hyponatremia, Short attention span, Elevated circulating alpha-fetoprotein concentration, Increas... OMIM:619991
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Conductive hearing impairment, Pulsatile tinnitus, Hypercalcemia ORPHA:29072
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Monosomy 13Q34
Abnormal earlobe morphology, Posteriorly rotated ears, Hypercalcemia ORPHA:96168
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Macrotia OMIM:617864
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Hyperuricemia ORPHA:199299
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Increased circul... ORPHA:95409
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment OMIM:620114
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Vitamin D-Dependent Rickets, Type 2A
Hearing impairment, Wide nasal bridge, Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Wide nasal bridge, Low-set ears, Hearing impairment ORPHA:369837
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Cognitive impairment, Low-set ears, Short... OMIM:617527
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy... OMIM:601678
Immunodeficiency 82 With Systemic Inflammation
Cholesteatoma, Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Asparagine Synthetase Deficiency
Exaggerated startle response, Tremor, Macrotia, Hypoasparaginemia, Simple ear OMIM:615574
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Hearing impairment OMIM:620327
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Hypercalcemia, Hearing impairment, Hypophosphatemia ORPHA:249
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Low-set ears, Hypomagnesemia, Short nose, Macrotia OMIM:619503
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Increased circul... ORPHA:85138
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Macrotia, Hypoalbuminemia OMIM:614748
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Pheochromocytoma
Hypercalcemia OMIM:171300
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Sensorineural hearing impairment, Renal hypophosph... ORPHA:289176
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Low-set ears OMIM:617301
Digeorge Syndrome
Low-set ears, Hypocalcemia, Attention deficit hyperactivity disorder OMIM:188400
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment ORPHA:79255
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypercalcemia OMIM:131100
Charge Syndrome
Mixed hearing impairment, Aplasia of the semicircular canal, Sensorineural hearing impairment, Cu... OMIM:214800
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Macrotia OMIM:617281
Somatostatinoma
Increased circulating cortisol level, Hypercalcemia, Steatorrhea ORPHA:97283
Vipoma
Hypokalemia, Increased circulating cortisol level, Hypercalcemia ORPHA:97282
Ppoma
Increased circulating cortisol level, Hypercalcemia ORPHA:97278
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Sensorineural hearing impairment, Hypocalcemia, Increased VLDL cho... OMIM:243800
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Glucagonoma
Increased circulating cortisol level, Hypercalcemia, Steatorrhea ORPHA:97280
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Hypercalcemia ORPHA:913
Grfoma
Increased circulating cortisol level, Hypercalcemia ORPHA:97261
Williams Syndrome
Low-set, posteriorly rotated ears, Hypercalcemia, Elevated circulating creatine kinase concentrat... ORPHA:904
Multiple Endocrine Neoplasia Type 1
Short attention span, Confusion, Hypercalcemia, Increased circulating cortisol level, Primary hyp... ORPHA:652
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Hypercalcemia ORPHA:276152
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Small earlobe, Posteriorly rotated ears, Long nose, Wide nasal brid... OMIM:619522
Williams-Beuren Syndrome
Short attention span, Hypercalcemia, Sensorineural hearing impairment, Large earlobe, Attention d... OMIM:194050
Pmm2-Cdg
Abnormal pinna morphology, Reduced thyroxin-binding globulin, Macrotia, Hypoalbuminemia ORPHA:79318
Sotos Syndrome
Hypercalcemia, Tremor, Attention deficit hyperactivity disorder, Conductive hearing impairment, C... ORPHA:821
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Decreased serum iron, Dystonia ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Sarcoidosis
Hypercalcemia ORPHA:797

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 Eps8l2

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 Eps8l2.

No publications found that use IMPC mice or data for Eps8l2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Eps8l2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Eps8l2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Eps8l2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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