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Gene: Jakmip2 MGI:1923467

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Gene Summary

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

Order Alleles

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
increased startle reflex Jakmip2em1(IMPC)J HOM Early adult 3.93×10-05
increased leukocyte cell number Jakmip2em1(IMPC)J HOM   Early adult 8.88×10-05
decreased anxiety-related response Jakmip2em1(IMPC)J HOM Early adult 9.94×10-06
decreased circulating calcium level Jakmip2em1(IMPC)J HOM   Early adult 1.29×10-06
preweaning lethality, incomplete penetrance Jakmip2em1(IMPC)J HOM   Early adult 0.00
increased circulating glucose level Jakmip2em1(IMPC)J HOM Early adult 6.46×10-08
decreased circulating bilirubin level Jakmip2em1(IMPC)J HOM Early adult 3.57×10-06
hyperactivity Jakmip2em1(IMPC)J HOM   Early adult 2.76×10-12
abnormal auditory brainstem response Jakmip2em1(IMPC)J HOM   Early adult 2.02×10-05

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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

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Combined SHIRPA and Dysmorphology

Images

6 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
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
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hy... OMIM:612526
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Hearing impairment, Elevated circulating gamma-aminobutyric acid conc... OMIM:619658
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Hypoglycemia, Hypocalcemia ORPHA:163693
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Autoimmune Hypoparathyroidism
Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystoni... ORPHA:36913
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Tremor, Limb dystonia, Hearing impairment OMIM:620270
Hypotonia-Cystinuria Syndrome
Posteriorly rotated ears, Facial palsy, Hypocalcemia, Macrotia, Polyphagia, Neonatal hypoglycemia OMIM:606407
Stxbp1-Related Encephalopathy
Hyperactivity, EEG with abnormally slow frequencies, Tremor, Multifocal epileptiform discharges, ... ORPHA:599373
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia OMIM:619970
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia ORPHA:329249
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperprolinemia, EEG abnormality, Abnormal repetitive mannerisms OMIM:239500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... OMIM:301008
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... ORPHA:94090
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia ORPHA:172
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr... ORPHA:3077
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Type 1 Diabetes Mellitus
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... OMIM:222100
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Anemia OMIM:238700
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia OMIM:605899
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Hearing impairment, Aggressive behavior ORPHA:208441
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Facial palsy, Optic atrophy, Hypocalcemia, Anemia, Hearing impairment ORPHA:53
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... ORPHA:52368
Intermediate Osteopetrosis
Thrombocytopenia, Cranial nerve compression, Hepatosplenomegaly, Hypocalcemia, Optic atrophy from... ORPHA:210110
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Thrombocytopenia, Le... OMIM:259720
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms OMIM:619470
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Leuk... ORPHA:94093
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Hypsarrhythmia OMIM:618856
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Large earlobe, Abnormal antihelix morphology, Hypocalcemia, Low-set ears ORPHA:1438
Landau-Kleffner Syndrome
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... ORPHA:98818
Oculoskeletodental Syndrome
Hypercalcemia, Sensorineural hearing impairment, Hypocalcemia, Conductive hearing impairment, Hea... ORPHA:557003
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism, Abnormal ... OMIM:618718
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Thrombocytopenia, Sensorineural hearing impairment, Hypoca... ORPHA:47
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Facial palsy, Thrombocytopenia, Splenomegaly, Optic atrophy, Hypocalcemia, Facial p... OMIM:259700
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dys... OMIM:612716
Pseudohypoparathyroidism Type 1B
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryn... ORPHA:94089
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Depression, Irritability, Com... OMIM:261600
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Hyperactivity, Hypertriglyceridemia, Dystonia OMIM:615924
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... OMIM:600501
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia ORPHA:89937
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Interictal epileptiform activity, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, EEG with focal sharp slow waves, Aggressive behavior ORPHA:2382
Primary Intestinal Lymphangiectasia
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... ORPHA:90362
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia ORPHA:2056
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Tremor, Decreased nerve conduction velocity, Neur... ORPHA:206443
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Autosomal Dominant Hypocalcemia
Writer's cramp, Optic atrophy, Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emoti... ORPHA:428
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Timothy Syndrome
Hypoglycemia, Hypocalcemia OMIM:601005
Cholera
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalc... ORPHA:173
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio ORPHA:94086
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Pseudohypoparathyroidism Type 1C
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryn... ORPHA:79444
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Increased theta frequency activity in EEG, EEG with focal epileptifo... ORPHA:1929
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Depression, Iron deficiency anemia, Hypocalcemia, Type I diabetes mellitus, Th... OMIM:212750
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia ORPHA:382
Rhabdoid Tumor
Irritability, Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Sensorineural hearing impairment, Hypercalcemia, Anemia ORPHA:2668
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Adamantinoma
Hypercalcemia ORPHA:55881
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Hyperphosphatemia, Hypocalcemia, Low-set ears, Hypocalcemic seizures OMIM:241410
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia OMIM:618970
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529799
Congenital Disorder Of Glycosylation, Type Ig
Sensorineural hearing impairment, Abnormal pinna morphology, Hypocalcemia, Hypoglycemia OMIM:607143
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Pseudohypoparathyroidism Type 1A
Calcinosis, Sensorineural hearing impairment, Depression, Choreoathetosis, Irritability, Hyperpho... ORPHA:79443
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Inappropriate laughter, Hypocalcemia OMIM:618476
Hypophosphatasia
Irritability, Hypercalcemia, Anemia ORPHA:436
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hand tremor, Hyperglycemia OMIM:604484
Oculoskeletodental Syndrome
Splenomegaly, Hypercalcemia, Hypocalcemia, Hearing impairment OMIM:618440
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo... ORPHA:37042
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin con... ORPHA:100924
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Irritability, Exaggerated startle response, Optic... OMIM:616881
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... ORPHA:411634
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, EEG abnormality, Dysphagia ORPHA:500180
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Type II diabetes mellitus, Hyperglycemia OMIM:520000
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Pearson Syndrome
Reticulocytosis, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Splenomegaly,... ORPHA:699
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Optic atrophy, Hypokalemia, Hypocalcemia, Dysphagia OMIM:617913
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Gitelman Syndrome
Salt craving, Maternal diabetes, Insulin resistance, Hypermagnesemia, Glucose intolerance, Hypoka... ORPHA:358
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Irritability, Stillbirth, Anemia OMIM:241500
Non-Functioning Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Tremor, Cranial nerve compression, Conductive hearing impairment ORPHA:94080
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Postprandial hyperglycemia ORPHA:2089
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc... ORPHA:36234
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Hypoglycemia, Hyperc... ORPHA:199299
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Microtia, Anotia, Hypocalcemia, Bilateral sensorineural hear... ORPHA:2306
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypoglycemia, Congenital sensorineural hearing impairment, Sensorineural hearing i... ORPHA:73272
Optic Atrophy 11
Hyperactivity, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, Splenomegaly,... OMIM:617302
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Ethylene Glycol Poisoning
Facial palsy, Hyperkalemia, Euphoria, Addictive alcohol use, Hypocalcemia ORPHA:31826
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypoproteinemia, Hypocalcemia, Low-set ears OMIM:235255
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Hypoketotic hypoglycemia ORPHA:746
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Papilledema, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Diabetes mellitus ORPHA:3198
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Low-set ears, Hypomagnesemia OMIM:618183
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Low-set ears, Hypoproteinemia ORPHA:1655
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling,... OMIM:620330
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Aggressive behavior, Tremor, Compulsive behaviors, Attention deficit hyperactivity... ORPHA:476126
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Anorexia, Tremor, Re... ORPHA:3008
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, EEG with generalized polyspikes, EEG with generalized epilept... ORPHA:163681
Combined Oxidative Phosphorylation Deficiency 54
Tremor, Optic disc pallor, Sensorineural hearing impairment, Hyperglycemia OMIM:619737
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Depression, Opisthotonus, Anemia OMIM:184850
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Velocardiofacial Syndrome
Emotional lability, Hypocalcemia, Aggressive behavior OMIM:192430
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Hypocalcemia ORPHA:3426
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Upper limb postural tremor, Abnormal... ORPHA:99027
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Hyperactivity, Aggressive behavior, Irritability, Macrotia, Abnormal repetitive mann... ORPHA:391307
Beta-Ketothiolase Deficiency
Hypoglycemia, Thrombocytosis, Anorexia, Leukocytosis, Hyperammonemia, Agitation, Hyperuricemia, O... ORPHA:134
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp... ORPHA:544482
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Anemia OMIM:239200
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Aggressive behavior, Macrotia, Depression, Irritability, Self-i... ORPHA:449291
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, Aganglionic megacolon, EEG abnormality, Hypocalcemia, Neutrope... ORPHA:175
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Cranial nerve... ORPHA:2785
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Posteriorly rotated ears, Thrombocytopenia, Microtia, Hypocalcemia, Hyperbilirubinemia, Anemia ORPHA:163979
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Salt craving, Hypoglycemia, Hypercalcem... ORPHA:95409
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Thrombocytopenia, Insulin resistance, Fasting hype... ORPHA:2298
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Low-set ears OMIM:614732
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Progressive sensorineural hearing impairment, Diabetes mellitus, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Autosomal Recessive Malignant Osteopetrosis
Tremor, Splenomegaly, Hypocalcemia, Hypophosphatemia, Optic nerve compression, Anemia, Hearing im... ORPHA:667
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia ORPHA:64744
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocyto... ORPHA:391673
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Sensorineu... ORPHA:760
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoglycemia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia OMIM:613658
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Hyperglycemia OMIM:615986
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... OMIM:617600
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Splenomegaly, Optic atrophy, Overfolded helix, Depression, Hypoplasia of t... ORPHA:567
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Hennekam Syndrome
External ear malformation, Splenomegaly, Hypocalcemia, Low-set ears, Conductive hearing impairmen... ORPHA:2136
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Addison Disease
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Salt craving, Hypoglycemia, Hypercalcem... ORPHA:85138
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Polyphagia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Neonatal hyperbilirubinemia, Sensorineural hearing impairment OMIM:609727
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment, Depression OMIM:620114
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Abnormal circulating creatine concentration, Athetosis, Dys... ORPHA:52503
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypercholesterolemia, Hyperglycemia, Addictive alcohol use ORPHA:90065
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Tremor, Cranial nerve compression, Conductive hearing impairment ORPHA:276621
Cerebrotendinous Xanthomatosis
Resting tremor, Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decr... ORPHA:909
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Hypocalciuric Hypercalcemia, Familial, Type Iii
Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... OMIM:610042
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Irritability, Macrotia, EEG with generalize... OMIM:617864
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Craniofacioskeletal Syndrome
Microtia, Posteriorly rotated ears, Hypocalcemia OMIM:300712
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Tremor, Optic atrophy, Anemia, Increased blood urea nitrogen... ORPHA:90321
Monosomy 13Q34
Abnormal earlobe morphology, Insulin resistance, Posteriorly rotated ears, Hypercalcemia ORPHA:96168
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Optic atrophy, Dysphag... ORPHA:845
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Congenital Horner syndrome, Hemolytic anemia, Impulsivity, Hypomagnesemia, Dysphagia, Hepatosplen... OMIM:619503
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia OMIM:617281
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Low-set ears, Postprandial hyperglycemia, Hyperglycemia, ... OMIM:246200
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Dend Syndrome
Hyperglycemia, Thickened ears, Elevated hemoglobin A1c, Hypsarrhythmia ORPHA:79134
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hearing impairment, Hypophosphatemia OMIM:156400
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Agitation, Truncal titubation OMIM:618056
Hereditary Pheochromocytoma-Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Tremor, Cranial nerve compression, Conductive hearing impairment ORPHA:29072
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... ORPHA:83471
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-dehydrocholes... ORPHA:401973
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ... OMIM:227810
Cranioectodermal Dysplasia 1
Hypocalcemia, Low-set ears, Protruding ear OMIM:218330
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment, Hypercalcemia OMIM:602080
Short Syndrome
Sensorineural hearing impairment, Insulin resistance, Insulin-resistant diabetes mellitus, Glucos... OMIM:269880
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... ORPHA:79330
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Depression OMIM:615954
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Compulsive behaviors, Limb dystonia, Laryngea... ORPHA:2388
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:465508
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... OMIM:615574
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... ORPHA:2088
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Vitamin D-Dependent Rickets, Type 2A
Hearing impairment, Irritability, Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Digeorge Syndrome
Thrombocytopenia, Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Low-set ears, Attention d... OMIM:188400
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany, Anemia ORPHA:93325
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Charge Syndrome
Mixed hearing impairment, Facial palsy, Lop ear, Aplasia of the semicircular canal, Sensorineural... OMIM:214800
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Multifocal epileptiform discharges, EEG with generalized sha... ORPHA:369837
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Hyperammonemia OMIM:615453
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Glucagonoma
Diabetes mellitus, Hypercalcemia, Anorexia, Acanthocytosis, Depression, Normochromic anemia ORPHA:97280
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia OMIM:615710
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Fibrous Dysplasia Of Bone
Diabetes mellitus, Hypercalcemia, Hearing impairment, Hypophosphatemia ORPHA:249
Vipoma
Diabetes mellitus, Hypercalcemia, Anorexia, Hypokalemia, Normochromic anemia ORPHA:97282
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Posteriorly rotated ears, Low-set ears OMIM:618598
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Sensorineural hearing impairment, Hyperkalemia... ORPHA:293987
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Hypomagnesemia, Postprand... ORPHA:79102
Somatostatinoma
Hypochromic microcytic anemia, Diabetes mellitus, Hypercalcemia, Anorexia ORPHA:97283
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Hearing impairment OMIM:620327
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Hypoglycemia, Depression, EEG abnormality, Recurrent hypoglycemia, Neonatal dea... OMIM:124000
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Sensorineural hearing impairment, Hypophosphatemic rickets, Hypocalcemic ... ORPHA:289176
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Acanthocytosis, Tremor, Optic atrophy, Phonic tics, Depression, Blepharospasm, Cho... OMIM:234200
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Abnormal pinna morphology, Optic nerve hypoplasia, Hypoglycemia, Low-set ears,... OMIM:609069
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve conductio... OMIM:133540
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Decreased nerve conductio... OMIM:216400
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia OMIM:131100
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... OMIM:248370
Johanson-Blizzard Syndrome
Diabetes mellitus, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Splen... OMIM:243800
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia ORPHA:99880
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Parathyroid Carcinoma
Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia ORPHA:143
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia OMIM:617527
Sandhoff Disease
Hepatosplenomegaly, Exaggerated startle response, Orthostatic hypotension OMIM:268800
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Low-set ears, Dystonia, Macrotia, Hearing impai... ORPHA:79255
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Exaggerated startle response, Dystonia ORPHA:438216
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, EEG with generalized slow activity, Dysphagia OMIM:618367
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Ppoma
Hypercalcemia, Anorexia ORPHA:97278
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Multiple Endocrine Neoplasia Type 4
Fasting hyperinsulinemia, Increased glucagon level, Hypercalcemia, Hyperinsulinemic hypoglycemia ORPHA:276152
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Scorpion Envenomation
Restlessness, Increased circulating NT-proBNP concentration, Tremor, Glycosuria, Hypokalemia, Inc... ORPHA:466677
Pheochromocytoma
Hypercalcemia OMIM:171300
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:253800
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Hypochromic microcytic anemia, Anemia ORPHA:440713
Grfoma
Hypercalcemia, Anorexia ORPHA:97261
Williams Syndrome
Low-set, posteriorly rotated ears, Hypercalcemia, Elevated circulating creatine kinase concentrat... ORPHA:904
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Optic atrophy, Hypocalcemic seizures, Optic nerve compression, Anemia OMIM:612301
Zollinger-Ellison Syndrome
Increased glucagon level, Hypercalcemia ORPHA:913
Sotos Syndrome
Aganglionic megacolon, Hypercalcemia, Neonatal hypoglycemia, Aggressive behavior, Tremor, Acute l... ORPHA:821
Multiple Endocrine Neoplasia Type 1
Cranial nerve compression, Hypercalcemia, Anorexia, Depression ORPHA:652
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Hypercalcemia, Ganglioneuromatosis ORPHA:653
Sarcoidosis
Hemolytic anemia, Facial palsy, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell c... ORPHA:797
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353281
Williams-Beuren Syndrome
Diabetes mellitus, Hypercalcemia, Sensorineural hearing impairment, Large earlobe, Glucose intole... OMIM:194050
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Hearing impairment ORPHA:99885
Leprechaunism
Insulin resistance, Hyperinsulinemia, Protruding ear, Hypokalemia, Increased circulating renin le... ORPHA:508
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Hypoglycemia, Tremor, Hyperammonemia, Low-set ears, Dysphagia, Hyperglycemia OMIM:220111
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Sensorineural hearing impairment, Cu... ORPHA:444077
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dystonia, Decreased serum iron, Anemia, Dysphagi... ORPHA:438213
Atypical Werner Syndrome
Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsuli... ORPHA:79474
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353277
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Attention deficit hyperactivity... OMIM:619522
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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