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Gene: Eps8l2 MGI:2138828

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Gene Summary

Name:
EPS8-like 2
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal snout morphology Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 3.80×10-05
abnormal ear morphology Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 3.81×10-14
decreased prepulse inhibition Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 5.60×10-10
decreased circulating fructosamine level Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 5.69×10-06
increased circulating bilirubin level Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 9.34×10-05
decreased startle reflex Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 2.30×10-07
decreased circulating calcium level Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 1.60×10-05
decreased circulating cholesterol level Eps8l2tm1b(EUCOMM)Wtsi HOM   Early adult 5.50×10-05
impaired cued conditioning behavior Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 9.56×10-07
abnormal startle reflex Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 2.66×10-09
decreased circulating serum albumin level Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 2.27×10-05
increased circulating alkaline phosphatase level Eps8l2tm1b(EUCOMM)Wtsi HOM Early adult 6.13×10-06
increased circulating aspartate transaminase level Eps8l2tm1b(EUCOMM)Wtsi HOM   Early adult 9.13×10-05

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 100% (2 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)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 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)
Oral epithelium N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 100% (2 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)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 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

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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 auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Memory impairment, Hearing impairment, Tremor, Unconjugated hyperbil... ORPHA:79234
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment ORPHA:101007
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Cognitive impairment ORPHA:673
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:94090
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Mental deterioration, Tremor, Elevated circulating creatine kinase concentration... OMIM:208920
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Cognitive impairment, Dystonia, Elevated circulating alpha... OMIM:616267
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:620010
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Progressive Familial Intrahepatic Cholestasis
Cognitive impairment, Hypocalcemia ORPHA:172
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Diarrhea 13
Hypoalbuminemia OMIM:620357
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Hearing impairment, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... ORPHA:64753
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
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Laryngeal dystonia, Confusion, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic... ORPHA:36913
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia, Short nose OMIM:618618
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Intention tremor OMIM:610539
Citrullinemia Type Ii
Hypoalbuminemia, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Hyperlipi... ORPHA:247585
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Abnorma... ORPHA:52368
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Hearing impairment OMIM:618349
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Hypocalcemia ORPHA:163693
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Ring Chromosome 10 Syndrome
Wide nasal bridge, Low-set ears, Large earlobe, Abnormal antihelix morphology, Hypocalcemia ORPHA:1438
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Lipoyltransferase 1 Deficiency
Hyperprolinemia, Dystonia, Hyperglutaminemia, Increased total bilirubin OMIM:616299
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Alg6-Cdg
Hypoalbuminemia, Low-set ears, Decreased LDL cholesterol concentration ORPHA:79320
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Oculoskeletodental Syndrome
Wide nasal bridge, Conductive hearing impairment, Hearing impairment, Hypocalcemia, Sensorineural... ORPHA:557003
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Low-set ears, Short nose OMIM:608776
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... OMIM:614300
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... OMIM:616050
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Sensorineural hearing impairment, Increased serum bile acid concentration, Decre... OMIM:242150
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Short atten... ORPHA:88618
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:94089
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... ORPHA:766
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity OMIM:616278
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Hypermanganesemia, Unconjugated hyperbilirubinemia... OMIM:613280
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Adamantinoma
Hypercalcemia ORPHA:55881
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment, Hypocalcemia OMIM:612462
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Hearing impairment, Increased serum bile acid concentration OMIM:243300
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Fatigable weaknes... ORPHA:99845
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Hypotonia-Cystinuria Syndrome
Posteriorly rotated ears, Hypocalcemia, Macrotia OMIM:606407
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Reni Syndrome
Hypoalbuminemia, Mental deterioration, Sensorineural hearing impairment, Hypertriglyceridemia OMIM:617575
Nephrotic Syndrome, Type 8
Hypoalbuminemia, Sensorineural hearing impairment OMIM:615244
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Hearing impairment ORPHA:101009
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Low-set ears OMIM:608104
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor ORPHA:713
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia, Cognitive impairment ORPHA:64743
Squalene Synthase Deficiency
Low-set ears, Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating ... OMIM:618156
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Mental deterioration, Postural tremor, Action tremor, Intention tremor OMIM:254900
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Low-set ears, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circu... ORPHA:94093
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Albers-Schönberg Osteopetrosis
Hypocalcemia, Hearing impairment ORPHA:53
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Posteriorly rotated ears OMIM:241410
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Opisthotonus, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Steatorrhea, Hypoalbuminemia ORPHA:2070
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration OMIM:618892
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Hyperammonemia, Sensorineural hearing impairment, Decreased serum zinc, Conjugat... OMIM:617093
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Oculoskeletodental Syndrome
Wide nasal bridge, Hypercalcemia, Hypocalcemia, Hearing impairment OMIM:618440
Dahlberg-Borer-Newcomer Syndrome
Wide nasal bridge, Hypocalcemia ORPHA:1563
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... ORPHA:158057
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Leishmaniasis
Hypoalbuminemia ORPHA:507
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
X-Linked Agammaglobulinemia
Chronic otitis media, Hypocalcemia, Sensorineural hearing impairment ORPHA:47
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Bachmann-Bupp Syndrome
Attention deficit hyperactivity disorder, Hyperbilirubinemia, Cupped ear, Sensorineural hearing i... OMIM:619075
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Potocki-Lupski Syndrome
Hypocholesterolemia, Hearing impairment OMIM:610883
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Fatigable weakness, Writer's cramp ORPHA:428
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Low-set ears, Hypercalcemia, Short nose OMIM:614732
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Prelingual sensorineural hearing impairment, Congenital sensorineura... ORPHA:73272
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Sensorineural... OMIM:266510
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Wide nasal bridge, Low-set ears, Hypoproteinemia, Hypocalcemia OMIM:235255
Timothy Syndrome
Hypocalcemia OMIM:601005
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Elevated hepatic iron concentration, Increased circulating ferriti... OMIM:616860
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232800
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Steatorrhea OMIM:602579
Combined Oxidative Phosphorylation Deficiency 37
Progressive neurologic deterioration, Sensorineural hearing impairment, Hyperalaninemia, Hypoalbu... OMIM:618329
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Tremor, Increased serum bile acid concentration ORPHA:69665
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Confusion, Elevated circulating creatinine concentration, Hypocalcemia, Elevated... ORPHA:36234
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hyperbilirubinemia OMIM:235555
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Tremor, Steatorrhea, Intention tremor, Macrotia OMIM:212065
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Sensorineural hear... ORPHA:95716
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Cognitive impairment, Hypocalcemia OMIM:618476
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Sensorineural hearing impairment ORPHA:2668
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Sensorineural hearing impairment, Increased circulating ferritin concentration, ... ORPHA:540
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentr... ORPHA:79303
Non-Functioning Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Tremor, Conductive hearing impairment ORPHA:94080
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Laryngeal dystonia, Confusion, Hypocalcemic tetany, Hypocalcemia, Calcinosis, ... ORPHA:79444
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Congenital Disorder Of Glycosylation, Type Ig
Abnormal pinna morphology, Hypocalcemia, Sensorineural hearing impairment OMIM:607143
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Hyperbilirubinemia OMIM:609734
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Hearing impairment OMIM:259700
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Wide nasal bridge, Hypocholesterolemia OMIM:618810
Car T Cell Therapy-Associated Cytokine Release Syndrome
Confusion, Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Distal Xq28 Microduplication Syndrome
Attention deficit hyperactivity disorder, Neonatal hyperbilirubinemia, Microtia, Absent antihelix ORPHA:293939
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Laryngeal dystonia, Confusion, Hypocalcemic tetany, Hypocalcemia, Sensorineura... ORPHA:79443
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Tremor, Hyperglutamatemia, Hyperprolinemia, Hypoglut... ORPHA:3008
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Sensorineural hearing impairment OMIM:609727
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Hypoproteinemia, Hypocalcemia ORPHA:1655
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hand tremor, Hyperbilirubinemia, Limb dystonia, Increased circulat... OMIM:277900
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Low-set ears, Cogn... OMIM:222470
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Double Outlet Right Ventricle
Hypocalcemia, Abnormality of cartilage of external ear ORPHA:3426
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Wide nasal bridge OMIM:617303
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab... ORPHA:37042
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Abetalipoproteinemia, Sensorineural hearing impairment, Elevated circulating... ORPHA:96180
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Increased total bilirubin, Elevated circulating creatinine concentration, Decreased... OMIM:608836
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Dystonia OMIM:619487
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... ORPHA:101085
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Reduced haptoglobin level OMIM:266200
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Low-set ears, Wide nasal bridge, Conductive hearing impairment, Sensorineural he... OMIM:235510
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Alg12-Cdg
Hypoalbuminemia, Hypocholesterolemia, Sensorineural hearing impairment, Hyponatremia, Abnormal pi... ORPHA:79324
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment OMIM:103580
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia, Wi... OMIM:614887
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Low-set ears, Dystonia, Macrotia OMIM:251300
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Hypophosphatasia
Hypercalcemia ORPHA:436
Xfe Progeroid Syndrome
Hypoalbuminemia, Hearing impairment OMIM:610965
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Low-set ears, Conjugated hyperbilirubinemia OMIM:613404
Lathosterolosis
Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia, Short nose OMIM:607330
Fetal Cytomegalovirus Syndrome
Conjugated hyperbilirubinemia, Sensorineural hearing impairment ORPHA:294
Cartilage-Hair Hypoplasia
Wide nasal bridge, Low-set, posteriorly rotated ears, Hypocalcemia, Cognitive impairment, Macrotia ORPHA:175
Celiac Disease, Susceptibility To, 1
Steatorrhea, Hypocalcemia OMIM:212750
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Low-set ears OMIM:617729
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Neonatal hyperbilirubinemia, Abnormal blood potassium concentration, I... ORPHA:3202
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Ethylene Glycol Poisoning
Confusion, Hyperkalemia, Hypocalcemia ORPHA:31826
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Neonatal hyperbilirubinemia ORPHA:95232
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Hyperbilirubinemia OMIM:613812
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Glycogen Storage Disease Xii
Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration OMIM:611881
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Spinal Cord Injury
Hypercalcemia, Allodynia ORPHA:90058
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Confusion, Hypocalcemia, Elevated circulating creatine kinase concentration, D... ORPHA:466650
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level OMIM:613673
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Posteriorly rotated ears, Hypocalcemia, Microtia ORPHA:163979
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis OMIM:617913
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Attention deficit hyperactivity disorder, Neona... ORPHA:90674
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Low-set ears, Conjugated hyperbilirubinemia, Hearing impairment OMIM:208085
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a... ORPHA:90321
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Attention deficit hyperactivity disorder, Hypercalcemia, Short nose ORPHA:476126
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Sensorineural hearing impairment, Increased circulating renin level OMIM:619406
Autosomal Recessive Malignant Osteopetrosis
Hearing impairment, Otitis media, Hypocalcemia, Tremor, Hypophosphatemia ORPHA:667
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Memory impairment, Hearing impairment, Laryngeal dystonia, S... ORPHA:845
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Hennekam Syndrome
Wide nasal bridge, Low-set ears, Conductive hearing impairment, Hypocalcemia, Abnormal pinna morp... ORPHA:2136
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration ORPHA:90673
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Progressive psychomotor deterioration ORPHA:251004
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Tremor, Conductive hearing impairment ORPHA:276621
Craniofacioskeletal Syndrome
Posteriorly rotated ears, Hypocalcemia, Microtia OMIM:300712
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556037
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Short nose ORPHA:505248
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... ORPHA:171929
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Abnormal circulating fatty-acid concentration, Hypotriglyceridemia, Abnormal cir... ORPHA:2298
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Pearson Syndrome
Hearing impairment, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia,... ORPHA:699
Gm2 Gangliosidosis, Ab Variant
Dystonia, Cognitive impairment, Exaggerated startle response ORPHA:309246
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Dubowitz Syndrome
Wide nasal bridge, Low-set ears, Hypocholesterolemia, Short attention span, Otitis media, Protrud... OMIM:223370
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Kaufman Oculocerebrofacial Syndrome
Low-set ears, Hypocholesterolemia, Abnormal pinna morphology, Short nose OMIM:244450
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Wide nasal bridge, Hypocalcemia, Protruding ear, Attention deficit hyperactivity disorder, Dyston... OMIM:620330
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia, Progressive sensorineural hearing impairment ORPHA:2237
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Wide nasal bridge, Cupped ear, Hearing impairment, Hyperbilirubinemia, Short attention span, Otit... OMIM:619475
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Peroxisome Biogenesis Disorder 5A (Zellweger)
Low-set ears, Abnormal helix morphology, Hearing impairment, Elevated circulating phytanic acid c... OMIM:614866
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Wide nasal bridge, Short attention span, Exaggerated startle response, Dystonia, Abnormal pinna m... ORPHA:438216
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Recurrent otitis media, Hyperbilirubinemia, Short a... OMIM:619991
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Marburg Hemorrhagic Fever
Hypoalbuminemia, Confusion, Elevated circulating creatinine concentration, Hyperamylasemia, Hyper... ORPHA:99826
Osteopetrosis With Renal Tubular Acidosis
Conductive hearing impairment, Hypocalcemia, Macrotia, Elevated circulating creatine kinase conce... ORPHA:2785
Cranioectodermal Dysplasia 1
Wide nasal bridge, Low-set ears, Protruding ear, Hypocalcemia OMIM:218330
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Low-set ears ORPHA:79076
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Hearing impairment OMIM:156400
Gitelman Syndrome
Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Tinnitus, Primary hyperaldosteronism ORPHA:358
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
22Q11.2 Deletion Syndrome
Wide nasal bridge, Low-set ears, Small earlobe, Conductive hearing impairment, Hearing impairment... ORPHA:567
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Bilateral conductive hearing impairment OMIM:602080
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Low-set ears, Wide nasal bridge, Hearing impairment, Recurrent otitis media, Hyp... OMIM:270400
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Low-set ears, Hyperalaninemia, Exaggerated startle response OMIM:620451
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, I... ORPHA:95409
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Hereditary Pheochromocytoma-Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Tremor, Conductive hearing impairment ORPHA:29072
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Monosomy 13Q34
Posteriorly rotated ears, Hypercalcemia, Abnormal earlobe morphology ORPHA:96168
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... OMIM:216400
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Macrotia, Exaggerated startle response OMIM:617864
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Macrotia ORPHA:168577
Reynolds Syndrome
Steatorrhea, Hyperbilirubinemia, Calcinosis OMIM:613471
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperuricemia ORPHA:199299
Ogden Syndrome
Wide nasal bridge, Low-set ears, Macrotia, Recurrent otitis media, Hyperbilirubinemia, Protruding... OMIM:300855
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration OMIM:218700
Vitamin D-Dependent Rickets, Type 2A
Wide nasal bridge, Hypocalcemic seizures, Hypophosphatemia, Hearing impairment OMIM:277440
Asparagine Synthetase Deficiency
Hypoasparaginemia, Tremor, Simple ear, Exaggerated startle response, Macrotia OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Gm2-Gangliosidosis, Ab Variant
Dementia, Dystonia, Exaggerated startle response OMIM:272750
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem... OMIM:601678
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Recurrent otitis media, Cholesteatoma, Elevated circulating C-reactive protein c... OMIM:619381
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Hyperglycinemia, Hypernatremia, Exaggerated startle response OMIM:620423
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Exaggerated startle response OMIM:620114
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cranioectodermal Dysplasia 2
Wide nasal bridge, Low-set ears, Simple ear, Hyperbilirubinemia OMIM:613610
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Wide nasal bridge, Low-set ears, Hearing impairment, Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hyperbilirubinemia OMIM:557000
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Isolated Biliary Atresia
Xanthelasma, Conjugated hyperbilirubinemia ORPHA:30391
Senior-Boichis Syndrome
Attention deficit hyperactivity disorder, Increased total bilirubin ORPHA:84081
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Cognitive impairment, Exaggerated startle response, Posteriorly rotated ears, Short... OMIM:617527
Addison Disease
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, I... ORPHA:85138
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2331
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Wide nasal bridge, Low-set ears, Bilateral conductive hearing impairment, Atresia of the external... OMIM:620186
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Hearing impairment, Macrotia ORPHA:163956
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Caroli Disease
Conjugated hyperbilirubinemia ORPHA:53035
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia, Dystonia OMIM:618278
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Hypomagnesemia, Recurrent otitis media, Macrotia, Hypocalcemia, Chronic otitis medi... OMIM:619503
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Chronic otitis media ORPHA:83471
Degcags Syndrome
Low-set ears, Hearing impairment, Macrotia, Hyperbilirubinemia, Unilateral conductive hearing imp... OMIM:619488
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level, Hearing impairment ORPHA:249
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia, Macrotia OMIM:614748
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Low-set ears, Hearing impairment, Increased circulating ferritin concentration, ... OMIM:619534
Pheochromocytoma
Hypercalcemia OMIM:171300
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Exaggerated startle response... ORPHA:521426
Neurooculorenal Syndrome
Mixed hearing impairment, Decreased circulating cortisol level, Conjugated hyperbilirubinemia, Se... OMIM:620305
Digeorge Syndrome
Low-set ears, Recurrent otitis media, Attention deficit hyperactivity disorder, Hypocalcemia OMIM:188400
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Progressive neurologic deterioration, Low-set ears, Hyperbilirubinemia, Microtia OMIM:210710
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Exaggerated startle response OMIM:617301
Congenital Erythropoietic Porphyria
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... ORPHA:79277
Charge Syndrome
Low-set ears, Cupped ear, Aplasia of the semicircular canal, Hypocalcemia, Sensorineural hearing ... OMIM:214800
Hardikar Syndrome
Hyperbilirubinemia, Mild hearing impairment OMIM:301068
Developmental And Epileptic Encephalopathy 49
Macrotia, Exaggerated startle response OMIM:617281
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated circulating C-reactive protein concentration, Conjugated hyperbilirubinemia OMIM:620376
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Macrotia, Exaggerated startle response ORPHA:79255
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen... ORPHA:447
Johanson-Blizzard Syndrome
Sensorineural hearing impairment, Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cho... OMIM:243800
Congenital Disorder Of Glycosylation, Type Iim
Wide nasal bridge, Neonatal hyperbilirubinemia OMIM:300896
Vipoma
Hypokalemia, Hypercalcemia, Increased circulating cortisol level ORPHA:97282
Somatostatinoma
Steatorrhea, Hypercalcemia, Increased circulating cortisol level ORPHA:97283
Ppoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Glucagonoma
Steatorrhea, Hypercalcemia, Increased circulating cortisol level ORPHA:97280
Zollinger-Ellison Syndrome
Hypercalcemia, Increased circulating cortisol level ORPHA:913
Grfoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Williams Syndrome
Wide nasal bridge, Abnormal circulating lipid concentration, Macrotia, Low-set, posteriorly rotat... ORPHA:904
Multiple Endocrine Neoplasia Type 1
Increased circulating cortisol level, Confusion, Primary hypercortisolism, Short attention span, ... ORPHA:652
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level ORPHA:276152
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Williams-Beuren Syndrome
Recurrent otitis media, Large earlobe, Short attention span, Sensorineural hearing impairment, At... OMIM:194050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Wide nasal bridge, Low-set ears, Attention deficit hyperactivity disorder, Exaggerated startle re... OMIM:619522
Sotos Syndrome
Conductive hearing impairment, Hearing impairment, Tremor, Cholesteatoma, Attention deficit hyper... ORPHA:821
Pmm2-Cdg
Hypoalbuminemia, Abnormal pinna morphology, Macrotia, Reduced thyroxin-binding globulin ORPHA:79318
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Dystonia, Exaggerated startle response 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

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.

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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