Gene Summary

Name:
janus kinase and microtubule interacting protein 2
Synonyms:
D930046L20Rik,  6430702L21Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex Jakmip2em1(IMPC)J HOM Early adult 3.70×10-05
hyperactivity Jakmip2em1(IMPC)J HOM   Early adult 2.76×10-12
decreased circulating calcium level Jakmip2em1(IMPC)J HOM   Early adult 1.20×10-06
abnormal auditory brainstem response Jakmip2em1(IMPC)J HOM   Early adult 2.03×10-05
decreased circulating bilirubin level Jakmip2em1(IMPC)J HOM Early adult 3.74×10-06
decreased anxiety-related response Jakmip2em1(IMPC)J HOM Early adult 9.94×10-06
preweaning lethality, incomplete penetrance Jakmip2em1(IMPC)J HOM   Early adult 0.00
increased circulating glucose level Jakmip2em1(IMPC)J HOM Early adult 3.45×10-07

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Electroretinography 3

Fundus file

10 Images

X-ray

XRay Images Forepaw

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

Combined SHIRPA and Dysmorphology

Images

6 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

X-ray

XRay Images Skull Lateral Orientation

3 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Jakmip2 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Jakmip2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:94090
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity, EEG abnormality ORPHA:436151
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dystonia, Dysphagia, Hyperactivity, Impulsivity OMIM:620448
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability OMIM:146200
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Hypocalcemia, Hypoglycemia ORPHA:163693
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive... ORPHA:100973
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus OMIM:612526
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Irritabilit... ORPHA:36913
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Continuous spike and waves during slow sleep, Hyperacti... OMIM:301008
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hypsarrhythmia, Hyperactivity, Agitation OMIM:619970
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Hearing impairment, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Polyphagia, Facial palsy, Neonatal hypoglycemia, Posteriorly rotated ears, Macrotia OMIM:606407
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Tremor, Hypsarrhythmia, Hyperactivity, Multifocal epileptif... ORPHA:599373
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity OMIM:620270
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, EEG abnormality, Hyperactivity, Motor stereotypy OMIM:239500
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Resting tremor, Focal EEG discharges with secondary generalizatio... ORPHA:3077
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... ORPHA:52368
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... OMIM:222100
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Irritabilit... ORPHA:94089
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Glycine Encephalopathy 1
Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Hearing impairment, Pseudobulbar paralysis ORPHA:208441
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hypsarrhythmia, Hyperactivity, Impulsivity OMIM:617113
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Dystonia OMIM:301107
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Hypsarrhythmia, Reduced C-peptide level OMIM:618856
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Landau-Kleffner Syndrome
EEG with frontal focal spikes, EEG with generalized epileptiform discharges, Continuous spike and... ORPHA:98818
Oculoskeletodental Syndrome
Conductive hearing impairment, Hearing impairment, Hypocalcemia, Sensorineural hearing impairment... ORPHA:557003
Ring Chromosome 10 Syndrome
Low-set ears, Large earlobe, Abnormal antihelix morphology, Hypocalcemia, Aganglionic megacolon ORPHA:1438
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Low-set ears, Bruxism, Tremor, Motor stereotypy, Hyperactivity, EEG abno... OMIM:618718
Lennox-Gastaut Syndrome
Irritability, Aggressive behavior, EEG abnormality, Hyperactivity, EEG with focal sharp slow waves ORPHA:2382
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hearing impairment, Hyperglycemia, Transient neonatal diabe... ORPHA:99886
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Tremor, Hypertriglyceridemia OMIM:615924
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Decreased ne... ORPHA:206443
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia, Anorexia OMIM:175500
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Albers-Sch├Ânberg Osteopetrosis
Optic atrophy, Facial palsy, Hearing impairment, Hypocalcemia ORPHA:53
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Interictal epileptiform activity, Athetosis OMIM:618857
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
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Blue Diaper Syndrome
Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia ORPHA:94086
Autosomal Dominant Hypocalcemia
Optic atrophy, Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Hypocalcemia, W... ORPHA:428
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Hypocalcemia, Hyperuricemia,... ORPHA:94093
Timothy Syndrome
Hypocalcemia, Hypoglycemia OMIM:601005
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines OMIM:301076
Cholera
Hypoglycemia, Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Abnormal blood ion concentra... ORPHA:173
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Irritability OMIM:264700
Adamantinoma
Hypercalcemia ORPHA:55881
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:618858
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Dystonia, Athetosis ORPHA:382
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, EEG with generalized epileptiform discharges, Inappropriate behavior, Ag... OMIM:619827
Osteopetrosis, Autosomal Recessive 5
Undetectable visual evoked potentials, Optic atrophy, Hyperbilirubinemia, Hypocalcemia, Irritabil... OMIM:259720
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia OMIM:618970
Rasmussen Subacute Encephalitis
Hemidystonia, Continuous spike and waves during slow sleep, Increased theta frequency activity in... ORPHA:1929
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Posteriorly rotated ears OMIM:241410
Pseudohypoparathyroidism Type 1C
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Irritabilit... ORPHA:79444
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Diabetes me... ORPHA:1215
X-Linked Agammaglobulinemia
Hypocalcemia, Chronic otitis media, Sensorineural hearing impairment ORPHA:47
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Neonatal death, Aganglionic megacolon, T... OMIM:600501
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Abnormal pinna morphology, Hypoglycemia, Sensorineural hearing impairment OMIM:607143
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... OMIM:616881
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase, Hand tremor OMIM:604484
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hypoglycemia, EEG with burst suppression, Hyperglycemia, Hyperglycinemia, Agitatio... OMIM:620423
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Inappropriate laughter, Hypocalcemia OMIM:618476
Pseudohypoparathyroidism Type 1A
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Sensorineur... ORPHA:79443
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Sensorineural hearing impairment OMIM:520000
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Hearing impairment, Hypocalcemia, Facial palsy OMIM:259700
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Aggressive behavior, EEG abnormality, Hyperactivity, Dystonia, Dysphagia, Impulsivity ORPHA:500180
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Hypocalcemia, Hyperammonem... ORPHA:26793
Juvenile Nephropathic Cystinosis
Hypouricemia, Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic... ORPHA:411634
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Oculoskeletodental Syndrome
Hypercalcemia, Hearing impairment, Hypocalcemia OMIM:618440
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Hyperlipidemia, Irritability, Ketotic hypoglycemia ORPHA:2089
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response ORPHA:309246
Non-Functioning Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Tremor, Hypercalcemia, Pulsatile tinnitus ORPHA:94080
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Irritability ORPHA:289157
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Depression, Hypocalcemia OMIM:212750
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Sensorineural hearing impairment ORPHA:2668
Gitelman Syndrome
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Polydipsia, Hypomagnesemia, Glucos... ORPHA:358
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia OMIM:617913
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Hypophosphatasia
Hypercalcemia, Irritability ORPHA:436
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Prelingual sensorineural hearing impairment, Hyp... ORPHA:73272
Stiff Person Spectrum Disorder
Diabetes mellitus, Emotional lability, Exaggerated startle response ORPHA:3198
Rhabdoid Tumor
Hypercalcemia, Irritability ORPHA:69077
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Hyperphosphatemia, Abnormal pinna morphology, Hypocalcemia ORPHA:2323
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia, Addictive alcohol use, Euphoria, Facial palsy ORPHA:31826
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anorexia, Irritability, Stillbirth, Hypercalcemia OMIM:241500
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Myoclonic-Astatic Epilepsy
EEG with irregular generalized spike and wave complexes, Abnormal emotion, EEG with polyspike wav... ORPHA:1942
Diarrhea 10, Protein-Losing Enteropathy Type
Low-set ears, Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Hypocalcemia ORPHA:746
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Hearing impairment, Abnormal circulating porphyrin co... ORPHA:100924
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormali... OMIM:301013
Optic Atrophy 11
Optic atrophy, Hearing impairment, EEG with focal sharp waves, Stereotypical body rocking, Facial... OMIM:617302
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Hypocalcemia, Emotional lability, Hair-pulling, Protr... OMIM:620330
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Increased circulating ferritin concentratio... ORPHA:3240
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, EEG with spike-wave complexes, Obsessive-co... ORPHA:168491
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Low-set ears, Hypoproteinemia, Hypocalcemia OMIM:235255
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Self-mutilation, Tremor, Aggressive behavior, Attention deficit hyperactivity diso... ORPHA:476126
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Glucose ... ORPHA:552
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Hypocalcemia, Decreased circulating pr... ORPHA:37042
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Recurrent han... ORPHA:3008
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent otitis media, Recurrent ... ORPHA:449291
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia ORPHA:94059
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Tremor, Hyperglycemia, Sensorineural hearing impairment OMIM:619737
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, EEG with generalized epileptiform discharges, Low frustration tolerance... ORPHA:163681
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Tongue thrusti... OMIM:608643
Velocardiofacial Syndrome
Aggressive behavior, Emotional lability, Hypocalcemia OMIM:192430
Double Outlet Right Ventricle
Hypocalcemia, Abnormality of cartilage of external ear ORPHA:3426
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... ORPHA:99027
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:608600
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Pearson Syndrome
Glycosuria, Hearing impairment, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hype... ORPHA:699
Kenny-Caffey Syndrome, Type 2
Papilledema, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Low-set ears, Hypercalcemia OMIM:614732
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Hypoproteinemia, Hypocalcemia ORPHA:1655
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Diabetes mellitus, Progressive sensorineural hearing impairment, Hypocalcemia ORPHA:2237
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Orthostatic hypotension, Ano... ORPHA:199299
Igg4-Related Thyroid Disease
Dysphagia, Hypocalcemia ORPHA:64744
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Restless legs, Sensorineural heari... ORPHA:101085
Spinal Cord Injury
Hypercalcemia, Abnormal autonomic nervous system physiology, Allodynia ORPHA:90058
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Hyperglycemia OMIM:615986
Autosomal Recessive Malignant Osteopetrosis
Hearing impairment, Optic nerve compression, Otitis media, Hypocalcemia, Tremor, Hypophosphatemia... ORPHA:667
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, Hypocalcemia, Aganglionic megacolon, EEG abnormality, Macrotia ORPHA:175
Stiff-Person Syndrome
Opisthotonus, Depression, Diabetes mellitus, Exaggerated startle response OMIM:184850
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypogl... OMIM:617600
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperl... ORPHA:247585
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Acute Adrenal Insufficiency
Hypoglycemia, Hyperuricemia, Hyponatremia, Salt craving, Orthostatic hypotension, Anorexia, Hyper... ORPHA:95409
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Depression, Abnormal motor evoked potentials,... ORPHA:909
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hyperactivity, Sensorineural hearing impairment OMIM:609727
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... OMIM:248250
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Hearing impairment, Exaggerated startle response OMIM:620114
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Posteriorly rotated ears, Hypocalcemia, Microtia ORPHA:163979
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Oculogyric crisis, Abnormal circulating biopterin concentration, Abnormal circulating... OMIM:612716
X-Linked Creatine Transporter Deficiency
Self-mutilation, Aganglionic megacolon, Hyperactivity, Abnormal circulating creatine concentratio... ORPHA:52503
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia, Polydipsia OMIM:617994
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoglycemia OMIM:613658
22Q11.2 Deletion Syndrome
Low-set ears, Optic atrophy, Small earlobe, Depression, Conductive hearing impairment, Hearing im... ORPHA:567
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Depression OMIM:600740
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Tremor, Hypercalcemia, Pulsatile tinnitus ORPHA:276621
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Hypoalbuminemia, Hypotriglyceridemia, Glycosuria,... ORPHA:2298
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
EEG with generalized slow activity, Irritability, Exaggerated startle response, Macrotia, Optic n... OMIM:617864
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Polydipsia, Calcinosis OMIM:239200
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, EEG abnormality, Hyperactivity, Mo... OMIM:610042
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Hyperammonemia, Oral aversion, Hyperuricemia, Anorexia, Agitation ORPHA:134
Addison Disease
Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Salt craving, Orthostatic hy... ORPHA:85138
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Diabetes mellitus, Hypocalcemia ORPHA:544482
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Recurrent otitis media, Hyperbilirubinemia, Hypocal... OMIM:619991
Craniofacioskeletal Syndrome
Posteriorly rotated ears, Hypocalcemia, Microtia OMIM:300712
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Monosomy 13Q34
Insulin resistance, Hypercalcemia, Posteriorly rotated ears, Abnormal earlobe morphology ORPHA:96168
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Developmental And Epileptic Encephalopathy 49
Optic atrophy, EEG abnormality, Hyperactivity, Exaggerated startle response, Macrotia OMIM:617281
Hennekam Syndrome
Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Hypocalcemia ORPHA:2136
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Glucose intolerance, Emotional lability, Hypokalemia, Impaired gl... OMIM:219090
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Macrotia, Recurrent otitis media, Bruxism, Stereotypical body rocking, Hypomagnesem... OMIM:619503
Donohue Syndrome
Low-set ears, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia, ... OMIM:246200
Tay-Sachs Disease
Optic atrophy, Increased serum beta-hexosaminidase, Depression, Hearing impairment, Laryngeal dys... ORPHA:845
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Conductive hearing impairment, Cranial nerve compression, Hypocalcemia, Elevated c... ORPHA:2785
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Agitation, Exaggerated startle response OMIM:618056
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Tremor, Absent bra... ORPHA:90321
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Hearing impairment OMIM:156400
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c, Hypsarrhythmia, Thickened ears ORPHA:79134
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hypouricemia, Glycosuria, Hyperbilirubinemia, Increased serum bile ac... OMIM:227810
Hereditary Pheochromocytoma-Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Tremor, Hypercalcemia, Pulsatile tinnitus ORPHA:29072
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Aggressive behavior... ORPHA:401973
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Depression OMIM:615954
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Cranioectodermal Dysplasia 1
Low-set ears, Protruding ear, Hypocalcemia OMIM:218330
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Bilateral conductive hearing impairment OMIM:602080
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Short Syndrome
Low-set ears, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose int... OMIM:269880
Asparagine Synthetase Deficiency
Hypoasparaginemia, EEG with burst suppression, Tremor, Irritability, Simple ear, Hypsarrhythmia, ... OMIM:615574
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Hypophosphatemia, Fasting hypoglycemia, Hypertriglyceride... ORPHA:2088
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... ORPHA:79330
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia, Hearing impairment, Irritability OMIM:277440
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hyperammonemia, Hypoglycemia OMIM:615453
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Addictive alcohol use, Hypercholesterolemia ORPHA:90065
Mitchell-Riley Syndrome
Hyperglycemia, Hyperbilirubinemia, Diabetes mellitus OMIM:615710
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Dysphagia, Low vol... ORPHA:171929
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Hearing impairment, EEG with generalized sharp slow waves, EEG with spike-wave comp... ORPHA:369837
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Polydipsia, Insulin-resistant diabetes mellitus, ... ORPHA:769
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Emotional lability, Hyperactivity, Dystonia, Dysphagia, Intention tremor, Impulsivity OMIM:610217
Combined Oxidative Phosphorylation Deficiency 58
Low-set ears, Optic atrophy, Hypoglycemia, Hyperprolinemia, Hyperalaninemia, Exaggerated startle ... OMIM:620451
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Optic atrophy, Dysphagia, Exaggerated startle response OMIM:617301
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Hyperglycemia, Abnormality of iron homeostasis, Ele... ORPHA:465508
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... OMIM:615812
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hypsarrhythmi... ORPHA:521426
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Choreoacanthocytosis
Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Lingual dystonia, Dysphagia, Soc... ORPHA:2388
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia, Diabetes mellitus, Hearing impairment ORPHA:249
Charge Syndrome
Low-set ears, Cupped ear, Aplasia of the semicircular canal, Hypocalcemia, Self-mutilation, Senso... OMIM:214800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depression, Polydipsia, Hyperglycemia, Hyperlipidemia, Emotional labilit... ORPHA:293987
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Papilledema, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Digeorge Syndrome
Low-set ears, Recurrent otitis media, Attention deficit hyperactivity disorder, Hypocalcemia OMIM:188400
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Vipoma
Hypokalemia, Hypercalcemia, Diabetes mellitus, Anorexia ORPHA:97282
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Depression, Hearing impairment, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Emotional la... OMIM:124000
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... OMIM:216400
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Hypoglycemia OMIM:131100
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Glucagonoma
Hypercalcemia, Depression, Diabetes mellitus, Anorexia ORPHA:97280
Hyperekplexia 3
Exaggerated startle response OMIM:614618
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Chronic otitis media ORPHA:83471
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Dysphagia, Hypercalcemia ORPHA:99880
Somatostatinoma
Hypercalcemia, Diabetes mellitus, Anorexia ORPHA:97283
Familial Gestational Hyperthyroidism
Hand tremor, Hyperactivity, Agitation ORPHA:99819
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Dysphagia, Hypercalcemia ORPHA:143
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Hypomagnesemia, Tremor, Transient hypophosphate... ORPHA:79102
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Optic atrophy, Dysphagia, Exaggerated startle response, Posteriorly rotated ears OMIM:617527
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... OMIM:248370
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype... OMIM:151660
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Abnormal pinna morphology, Exaggerated startle response ORPHA:438216
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration, Sensorineural hearing impairment, Conjuga... OMIM:243800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Irritability, Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Alstrom Syndrome
Progressive sensorineural hearing impairment, Insulin-resistant diabetes mellitus, Decreased HDL ... OMIM:203800
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Pancreatic And Cerebellar Agenesis
Low-set ears, Hypoglycemia, Hyperglycemia, Diabetes mellitus, Abnormal pinna morphology, Optic ne... OMIM:609069
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Scorpion Envenomation
Glycosuria, Hyperglycemia, Tremor, Hypokalemia, Increased circulating creatine kinase MB isoform,... ORPHA:466677
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Ppoma
Hypercalcemia, Anorexia ORPHA:97278
Pheochromocytoma
Hypercalcemia OMIM:171300
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Multiple Endocrine Neoplasia Type 4
Increased glucagon level, Hypercalcemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia ORPHA:276152
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Macrotia, Exaggerated startle response ORPHA:79255
Williams Syndrome
Depression, Abnormal circulating lipid concentration, Low-set, posteriorly rotated ears, Type II ... ORPHA:904
Grfoma
Hypercalcemia, Anorexia ORPHA:97261
Zollinger-Ellison Syndrome
Hypercalcemia, Increased glucagon level ORPHA:913
Multiple Endocrine Neoplasia Type 1
Cranial nerve compression, Depression, Hypercalcemia, Anorexia ORPHA:652
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Hearing impairment ORPHA:99885
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behavior, Otitis me... ORPHA:353281
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Ganglioneuromatosis, Hypercalcemia ORPHA:653
Sotos Syndrome
Conductive hearing impairment, Hearing impairment, Tremor, Cholesteatoma, Aganglionic megacolon, ... ORPHA:821
Williams-Beuren Syndrome
Recurrent otitis media, Large earlobe, Hypercalcemia, Glucose intolerance, Obsessive-compulsive t... OMIM:194050
Leprechaunism
Low-set ears, Postprandial hyperglycemia, Insulin resistance, Hyperinsulinemia, Recurrent infanti... ORPHA:508
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Low-set ears, Hypoglycemia, Hyperglycemia, Hyperammonemia, Tremor, Dystonia, Dysphagia OMIM:220111
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cupped ear, Hearing impairment, Conductive hearing impairment, Low-set, posteriorly rotated ears,... ORPHA:444077
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Optic nerve compression, Hypocalcemic seizures OMIM:612301
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Low-set ears, Conductive hearing impairment, Abnormal fear-induced behav... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Low-set ears, Conductive hearing impairment, Abnormal fear-induced behav... ORPHA:353277
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyperglycemia, Hyperin... ORPHA:79474
Bardet-Biedl Syndrome
Insulin resistance, Depression, Hearing impairment, Low-set, posteriorly rotated ears, Impaired f... ORPHA:110
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Stereotypical hand wringing, Exaggerated startle respon... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Motor stereotypy, Attention deficit hyperactivity disorder, Dysphagia, Exaggerated ... OMIM:619522
Sarcoidosis
Facial palsy, Hypercalcemia ORPHA:797
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001

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 Jakmip2

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 Jakmip2.

No publications found that use IMPC mice or data for Jakmip2.

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MGI Allele Allele Type Produced
Jakmip2em1(IMPC)J Intra-exon deletion Mice

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