Gene Summary

Name:
membrane integral NOTCH2 associated receptor 2
Synonyms:
A730017C20Rik

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
decreased bone mineral content Minar2tm1b(KOMP)Wtsi HOM Early adult 7.05×10-12
absent pinna reflex Minar2tm1b(KOMP)Wtsi HOM Early adult 2.99×10-18
decreased circulating phosphate level Minar2tm1b(KOMP)Wtsi HOM   Early adult 1.29×10-05
increased total body fat amount Minar2tm1b(KOMP)Wtsi HOM   Early adult 1.26×10-09
decreased circulating glucose level Minar2tm1b(KOMP)Wtsi HOM   Early adult 7.02×10-05
decreased lean body mass Minar2tm1b(KOMP)Wtsi HOM   Early adult 2.93×10-09
decreased bone mineral density Minar2tm1b(KOMP)Wtsi HOM Early adult 1.89×10-08
abnormal auditory brainstem response Minar2tm1b(KOMP)Wtsi HOM   Early adult 5.10×10-12
decreased body length Minar2tm1b(KOMP)Wtsi HOM Early adult 4.60×10-06
abnormal bone structure Minar2tm1b(KOMP)Wtsi HOM Early adult 1.98×10-05

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Ambiguous
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote Ambiguous
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

14 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Human diseases caused by Minar2 mutations

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

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

The table below shows human diseases associated to Minar2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238

The table below shows human diseases predicted to be associated to Minar2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Memory impairment, Depression, Chorea, Dysdiadochokinesis, Athetosis, Tremor, Gait ... OMIM:213600
Spinocerebellar Ataxia Type 12
Bradykinesia, Limb dysmetria, Tremor by anatomical site, Poor fine motor coordination, Gait distu... ORPHA:98762
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Transient hyperphenylalaninemia, Restin... OMIM:128230
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Frontotemporal dementia, Memory impairment, Falls, Shuffling gait, Short attention ... ORPHA:412066
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Sensorineural hearing impairme... OMIM:241520
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Impaired tactile sensation, Falls, Restin... OMIM:617225
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Orthostatic hypotension, Depression, Resting tremor, Parkinsonism with favorable re... OMIM:616710
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Elbow flexion contracture, Shuffling gait, Rigidity, Parkins... ORPHA:306692
Dystonia 12
Bradykinesia, Torticollis, Depression, Emotional lability, Tremor, Dystonia, Unsteady gait, Parki... OMIM:128235
Spastic Paraplegia 80, Autosomal Dominant
Limb ataxia, Babinski sign, Bradykinesia, Lower limb spasticity, Gait disturbance, Spastic parapl... OMIM:618418
Huntington Disease-Like 2
Bradykinesia, Irritability, Memory impairment, Subcortical dementia, Chorea, Depression, Action t... OMIM:606438
Parkinsonism With Polyneuropathy
Bradykinesia, Decreased compound muscle action potential amplitude, Depression, Resting tremor, P... OMIM:619279
Spinocerebellar Ataxia 17
Limb ataxia, Bradykinesia, Apraxia, Broad-based gait, Depression, Chorea, Positive Romberg sign, ... OMIM:607136
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Depression, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:314632
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Emotional lability, Depression, Resting tremor, Craniofacial dystonia,... ORPHA:71517
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Memory impairment, Progressive extrapyramidal muscular rigi... ORPHA:454887
Parkinson Disease 19A, Juvenile-Onset
Bradykinesia, Pill-rolling tremor, Limb hypertonia, Spasticity, Shuffling gait, Cognitive impairm... OMIM:615528
Caribbean Parkinsonism
Bradykinesia, Orthostatic hypotension, Apraxia, Myoclonus, Abnormal autonomic nervous system phys... ORPHA:97355
Juvenile Huntington Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Depression, Chorea, ... ORPHA:248111
Autosomal Dominant Spastic Paraplegia Type 3
Spastic gait, Tip-toe gait, Bradykinesia, Babinski sign, Lower limb spasticity, Hyperesthesia, Ga... ORPHA:100984
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Bradykinesia, Memory impairment, Chorea, Mental deterioration, Dystonia, Ataxia, Parkinsonism, Ab... OMIM:618317
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Babinski sign, Hypertonia, Bradykinesia, Limb dystonia, Rigidity, Parkinsonism, Gene... OMIM:618824
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Unsteady gait, Parkinsonism, Abnormal pyramidal sign, P... ORPHA:210571
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Bradykinesia, Oromandibular dystonia, Depression, Gait disturbance, Rigidity, Dysto... OMIM:615643
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Apraxia, Memory impairment, Depression, Spasticity, Shuffling gait, Gait disturbanc... OMIM:221820
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Depression, Memory impairment, Tremor, Parkinsonism with favorable response ... ORPHA:240085
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Memory impairment, Progressive extrapyramidal muscular rigid... ORPHA:240103
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Irritability, Babinski sign, Generalized dystonia, Oculogyric crisis, Abnormality o... ORPHA:101150
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Depression, Resting tremor, Rigidity, Dystonia, Parkinsonism, Dementia OMIM:605909
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Gait disturbance, Action tremor, Rigidit... OMIM:300423
Huntington Disease
Decreased body mass index, Chorea, Rigidity, Myoclonus, Clumsiness, Bradyphrenia, Irritability, B... ORPHA:399
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Optic atrophy, Bradykinesia, Hemidystonia, Spastic tetraparesis, Abnormal pyramidal... OMIM:619052
Hypermanganesemia With Dystonia 2
Limb dystonia, Lower limb hypertonia, Opisthotonus, Clumsiness, Hypermanganesemia, Tip-toe gait, ... OMIM:617013
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Irritability, Hypertonia, Limb hypertonia, Hyperphenylalaninemia, Tremor, Rigidity,... OMIM:261640
Spinocerebellar Ataxia Type 1
Bradykinesia, Optic atrophy, Impaired proprioception, Progressive cerebellar ataxia, Gait imbalan... ORPHA:98755
Infantile Dystonia-Parkinsonism
Bradykinesia, Irritability, Hypertonia, Abnormal circulating carboxylic acid concentration, Limb ... ORPHA:238455
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Depression, Resting tremor, Parkinsonism with favorable response to dopaminergic me... OMIM:620482
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Bradykinesia, Hypertonia, Limb hypertonia, Broad-based gait, Oculogyric crisis, Dystonia, Parkins... OMIM:617384
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb ataxia, Bradykinesia, Abnormal nerve conduction velocity, Torticollis, Gait ataxia, Limb myo... OMIM:619862
Cerebellar Ataxia, Cayman Type
Bradykinesia, Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Dystonia, Ataxia OMIM:601238
Autosomal Recessive Progressive External Ophthalmoplegia
Bradykinesia, Optic atrophy, Distal sensory impairment, Depression, Parkinsonism with favorable r... ORPHA:254886
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Progressive extrapyramidal muscular rigidity, Progressive forgetfulness, Cho... ORPHA:282166
Leber Optic Atrophy And Dystonia
Bradykinesia, Optic atrophy, Spasticity, Athetosis, Upper motor neuron dysfunction, Dystonia, Dem... OMIM:500001
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Bradykinesia, Babinski sign, Apraxia, Emotional lability, Resting tremor, Tremor, S... OMIM:300055
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Dementia, Subcortical dementia, Chorea, Emotional la... OMIM:606159
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia, EEG abnormality OMIM:617836
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Depression, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Dystonia 16
Bradykinesia, Generalized dystonia, Retrocollis, Gait disturbance, Involuntary movements, Cogniti... OMIM:612067
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Huntington Disease
Bradykinesia, Depression, Chorea, Gait ataxia, Rigidity, Dementia OMIM:143100
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Memory impairment, Depression, Mental deterioration, Dysdiadochokinesis, Resting tr... OMIM:300623
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Optic atrophy, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dyst... ORPHA:329284
Huntington Disease-Like 1
Bradykinesia, Memory impairment, Depression, Chorea, Incoordination, Poor fine motor coordination... ORPHA:157941
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Oculogyric crisis, Falls, Depression, Chorea, H... ORPHA:13
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Bradykinesia, Babinski sign, Limb fasciculations, Apraxia, Depression, Incoordinatio... OMIM:615157
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Freezing of gait, Extrapyrami... ORPHA:99750
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Pill-rolling tremor, Babinski sign, Resting tremor, Tremor, Shuffling gait, Gait di... OMIM:600116
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Multiple System Atrophy, Cerebellar Type
Limb ataxia, Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Depression, Resting t... ORPHA:227510
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, EEG with spike-wave complexes, Incoordination, Poor fine motor coordination, Tremor... ORPHA:36387
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Depression, Resting tremor, Abnormal... ORPHA:98933
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Dravet Syndrome
Bradykinesia, Interictal epileptiform activity, Incoordination, Poor fine motor coordination, Myo... ORPHA:33069
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Bradykinesia, Optic atrophy, Progressive sensorineural hearing impairment, Truncal ataxia, Sensor... OMIM:601338
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti... OMIM:606693
Autosomal Dominant Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Generalized dystonia, Torticollis, Transient hyperphenylalaninemia, ... ORPHA:98808
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Protruding ear, Inability to walk, Lower limb spasticity, Broad-based gait, Oromoto... OMIM:617854
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Optic atrophy, Babinski sign, Spasticity, Shuffling gait, Gait disturbance, Frequen... ORPHA:289560
Spinocerebellar Ataxia 10
Limb ataxia, Bradykinesia, Babinski sign, Decreased nerve conduction velocity, Distal sensory imp... OMIM:603516
Late-Infantile/Juvenile Krabbe Disease
Tetraplegia, Ataxia, Clumsiness, Acroparesthesia, Hemiplegia, Irritability, Difficulty walking, D... ORPHA:206443
Multiple System Atrophy
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnormal autonomic n... ORPHA:102
Gerstmann-Straussler Disease
Limb ataxia, Bradykinesia, Apraxia, Memory impairment, Depression, Truncal ataxia, Emotional labi... OMIM:137440
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Bradykinesia, Steppage gait, Optic atrophy, Babinski sign, Impaired distal proprioce... OMIM:258450
Manganese Poisoning
Bradykinesia, Irritability, Hypertonia, Akinesia, Memory impairment, Depression, Emotional labili... ORPHA:306682
Spinocerebellar Ataxia 2
Limb ataxia, Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Neuroferritinopathy
Bradykinesia, Babinski sign, Difficulty walking, Writer's cramp, Leg dystonia, Subcortical dement... ORPHA:157846
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Chorea, Progressive extrapyramidal muscular rig... ORPHA:53351
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity, Memory impairment ORPHA:306686
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Chorea, Ataxia, Lethargy OMIM:618683
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dystonia,... OMIM:300894
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Cognitive impairment, R... ORPHA:70594
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Machado-Joseph Disease
Limb ataxia, Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal adipose tissue morphology, Hypocalcemia, Bone cyst, Abnormal bone structure, Coarse meta... ORPHA:93160
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Falls, Progressive extrapyramidal muscular rigidity, Axia... ORPHA:240071
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Increased total iron binding capacity, Abnormality of extrapyramidal... OMIM:613280
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Spasticity, Tremor, Dystonia, Unsteady gait, Ankle clonus, Abnormal pyr... OMIM:617435
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums... OMIM:619911
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... OMIM:619725
Familial Isolated Hyperparathyroidism
Osteopenia, Generalized osteoporosis, Hypercalcemia, Hypophosphatemia, Chondrocalcinosis ORPHA:99879
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Mohr-Tranebjaerg Syndrome
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Attention deficit ... ORPHA:52368
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age, Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Dia... OMIM:616026
Perry Syndrome
Bradykinesia, Akinesia, Frontotemporal dementia, Depression, Tremor, Rigidity, Dystonia, Parkinso... OMIM:168605
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Attention deficit hyperactivity disorder, Lower limb spasticity, Bradykinesia OMIM:618878
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time, Hyperton... OMIM:616881
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Difficulty walking, Delayed epiphyseal ossification, Hypocalcemia, Failure to thrive, Hy... OMIM:600081
Vitamin D-Dependent Rickets, Type 2A
Rickets, Irritability, Hypocalcemic seizures, Difficulty walking, Delayed epiphyseal ossification... OMIM:277440
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Irritability, Hypocalcemic seizures, Difficulty walking, Delayed epiphyseal ossification... OMIM:264700
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:613643
Progressive Supranuclear Palsy
Bradykinesia, Irritability, Memory impairment, Depression, Emotional lability, Falls, Tremor, Ble... ORPHA:683
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G... OMIM:618877
Parkinson Disease 14, Autosomal Recessive
Frontotemporal dementia, Rigidity, Clumsiness, Pill-rolling tremor, Eyelid myoclonus, Axial dysto... OMIM:612953
Childhood-Onset Nemaline Myopathy
Bradykinesia, Difficulty walking, Clumsiness, Facial diplegia, Waddling gait, Slender build, Flex... ORPHA:171439
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Lower limb spasticity, Sensorineural hearing impairment, Abnormal auditory ev... ORPHA:320401
Deafness, Autosomal Recessive 104
Positive Romberg sign, Prelingual sensorineural hearing impairment, Absent brainstem auditory res... OMIM:616515
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Babinski sign, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor... ORPHA:225147
Postencephalitic Parkinsonism
Bradykinesia, Babinski sign, Akinesia, Oculogyric crisis, Depression, Resting tremor, Tremor by a... ORPHA:97349
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Spinocerebellar Ataxia Type 8
Limb ataxia, Bradykinesia, Spastic dysarthria, Depression, Spasticity, Gait ataxia, Rigidity, Dys... ORPHA:98760
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Sh... OMIM:311510
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Depression, Resting tremor, Shuffling gait, Myoclonus, Gait disturbance, Rigidity, ... OMIM:168601
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Glycosuria, Hypophosphatemia, Osteomalacia, Recurrent fractures OMIM:613388
Fanconi-Bickel Syndrome
Rickets, Osteopenia, Hypertriglyceridemia, Fasting hypoglycemia, Impaired glucose tolerance, Fail... ORPHA:2088
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Babinski sign, Spasticity, Shuffling gait, Abnormal autonomic nervous system physio... ORPHA:171695
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Difficulty walking, Delayed epiphyseal ossification, Failure t... OMIM:241530
Spinocerebellar Ataxia Type 13
Limb ataxia, Bradykinesia, Optic atrophy, Difficulty walking, Torticollis, Impaired distal vibrat... ORPHA:98768
Cystinosis
Rickets, Hypokalemia, Gait disturbance, Failure to thrive, Hypophosphatemia, Abnormal pyramidal s... ORPHA:213
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Claw hand deformity, Impaired dis... OMIM:601455
Parkinson Disease, Late-Onset
Bradykinesia, Depression, Resting tremor, Tremor, Abnormal autonomic nervous system physiology, R... OMIM:168600
Ravine Syndrome
Spasticity, Decreased body weight, Abnormal auditory evoked potentials, Failure to thrive, Ataxia ORPHA:99852
Fanconi-Bickel Syndrome
Rickets, Increased serum bile acid concentration, Fasting hypoglycemia, Hypokalemia, Hypouricemia... OMIM:227810
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Adult-Onset Nemaline Myopathy
Mildly elevated creatine kinase, Difficulty walking, Flexion contracture, Bradykinesia ORPHA:171442
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Increased circulatin... ORPHA:157215
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Akinesia, Depression, Low frustration tolerance, Resting tremor, Parkinsonism with ... ORPHA:411602
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Spastic tetraparesis, Failure to thrive, Dystonia, Hypoglycemia ORPHA:67046
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Depression, Co... ORPHA:36913
Fanconi Renotubular Syndrome 1
Rickets, Hypokalemia, Glycosuria, Hypophosphatemia, Osteomalacia OMIM:134600
Young-Onset Parkinson Disease
Bradykinesia, Gait imbalance, Depression, Spasticity, Tremor, Short attention span, Abnormal auto... ORPHA:2828
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Primary Progressive Freezing Gait
Bradykinesia, Babinski sign, Difficulty walking, Gait imbalance, Shuffling gait, Frequent falls, ... ORPHA:75567
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit... OMIM:617519
Linear Verrucous Nevus Syndrome
Reduced bone mineral density, Hypophosphatemia, Mental deterioration ORPHA:2611
Pseudohypoparathyroidism Type 1B
Irritability, Hypocalcemic seizures, Diaphyseal sclerosis, Increased bone mineral density, Hypoca... ORPHA:94089
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone... OMIM:300554
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Sensorineural hearing impairment, Impaired distal vibration sensation, Abnormal aut... ORPHA:99027
Rett Syndrome
Bradykinesia, Difficulty walking, Limb apraxia, Inability to walk, Increased serum pyruvate, Abno... ORPHA:778
Fanconi Renotubular Syndrome 5
Glycosuria, Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplit... OMIM:125250
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Optic atrophy, Babinski sign, Hypertonia, Emotional lability, Chorea, Dysdiadochoki... OMIM:610217
Adult Krabbe Disease
Hoffmann sign, Babinski sign, Delayed brainstem auditory evoked response conduction time, Impaire... ORPHA:206448
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... OMIM:615530
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Impaired proprioception, Steppage gait, Decreased nerve conduction velocity, Inabili... ORPHA:101085
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Irritability, Hypocalcemic seizures, Difficulty walking, Delayed epiphyseal ossification... ORPHA:289157
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign, Hyperglycinemia OMIM:619063
Hypoglycemia, Leucine-Induced
Irritability, Spasticity, Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Fibrous Dysplasia Of Bone
Rickets, Difficulty walking, Pathologic fracture, Paresthesia, Abnormal bone structure, Cortical ... ORPHA:249
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Gait ataxia, Cognitive impairment, Rigidity, Ataxia, Hypertonia, Depression, Res... ORPHA:254892
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Fragile X-Associated Tremor/Ataxia Syndrome
Bradykinesia, Memory impairment, Depression, Dysesthesia, Abnormal autonomic nervous system physi... ORPHA:93256
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Weight loss, Hypoa... ORPHA:398063
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Frontotemporal dementia, Depression, Spasticity, Parkinsonism with favorable respon... ORPHA:199351
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Memory impairment, Slowed slurred speech, Attention deficit hyperactivity disorder,... OMIM:619827
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Enamel hypomineralization, Hypophosphatemic rickets, Waddling gait, Abnormal circulating... OMIM:307800
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Flexion contracture of toe, Chorea, Osteoporosis, Finger joint contracture, Intention tremor, Ata... ORPHA:48431
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Bradykinesia, Impaired distal proprioception, Depression, Sensorineural hearing impairment, Parki... OMIM:157640
Dent Disease 1
Rickets, Delayed epiphyseal ossification, Glycosuria, Hypophosphatemia, Sparse bone trabeculae, O... OMIM:300009
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Waddling gait, Hearing impairment, Hip contracture, Hypercalcemia, Hypophosphatemia, ... OMIM:156400
Parkinson Disease 8, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607060
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia, Osteomalacia, Multiple lipomas, Chondrocalcinosis OMIM:600740
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Autosomal Recessive Spastic Paraplegia Type 77
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Paroxysmal dystonia, Intention ... ORPHA:466722
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany, Hyperphosphatemia, La... ORPHA:94090
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Irritability, Inability to walk, Athetosis, Gait disturbance, Rigidity, Loss of am... OMIM:618241
Dent Disease 2
Umbilical hernia, Hypophosphatemia, Elevated circulating creatine kinase concentration, Cognitive... OMIM:300555
Blue Diaper Syndrome
Increased body weight, Increased proinsulin:insulin ratio, Hypercalcemia, Recurrent hypoglycemia,... ORPHA:94086
Oncogenic Osteomalacia
Pathologic fracture, Hypocalcemia, Gait disturbance, Hypophosphatemia, Fibrous dysplasia of the b... ORPHA:352540
Neurodegeneration With Brain Iron Accumulation 1
Bradykinesia, Optic atrophy, Babinski sign, Akinesia, Depression, Abnormality of extrapyramidal m... OMIM:234200
Classic Galactosemia
Reduced bone mineral density, Gait imbalance, Depression, Incoordination, Clumsiness, Osteoporosi... ORPHA:79239
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hypocalcemia, Papilledema, Thickened ... OMIM:127000
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Orthostatic hypotension, Tremor, Abnormal autonomic nervous system p... OMIM:146500
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Hypertonia, Increased total iron binding capacity, Difficulty walking, Truncal atax... ORPHA:309854
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia, Delayed epiphyseal ossification OMIM:618618
Huntington Disease-Like 3
Broad-based gait, Abnormality of extrapyramidal motor function, Chorea, Extrapyramidal muscular r... ORPHA:157946
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Difficulty walking, Oculogyric crisis, Confusion, Myoclo... ORPHA:306674
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Sensorineural heari... OMIM:239000
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Calciphylaxis
Cellulitis, Hyperphosphatemia, Ectopic ossification ORPHA:280062
Leukodystrophy, Hypomyelinating, 5
Babinski sign, Delayed brainstem auditory evoked response conduction time, Truncal titubation, In... OMIM:610532
Supranuclear Palsy, Progressive, 2
Bradykinesia, Irritability, Akinesia, Gait imbalance, Falls, Memory impairment, Retrocollis, Fron... OMIM:609454
Cerebrotendinous Xanthomatosis
Cognitive impairment, Ataxia, Palatal tremor, Optic atrophy, Babinski sign, Decreased nerve condu... ORPHA:909
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Choreoacanthocytosis
Chorea, Lingual dystonia, Abnormal autonomic nervous system physiology, Limb dystonia, Head titub... ORPHA:2388
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Sensorineural hearing i... ORPHA:89936
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Hypophosphatemia OMIM:308990
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Hsd10 Mitochondrial Disease
Optic atrophy, Sensorineural hearing impairment, Spasticity, Progressive neurologic deterioration... OMIM:300438
Supranuclear Palsy, Progressive, 1
Bradykinesia, Irritability, Akinesia, Gait imbalance, Falls, Memory impairment, Retrocollis, Fron... OMIM:601104
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Osteoporosis, Enamel hypoplasia, Obesity, Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Distal sensory im... OMIM:601596
Autosomal Dominant Hypocalcemia
Optic atrophy, Reduced bone mineral density, Writer's cramp, Cortical myoclonus, Hypocalcemia, De... ORPHA:428
Pseudohypoparathyroidism Type 1A
Irritability, Calcinosis, Reduced bone mineral density, Hypocalcemic seizures, Increased bone min... ORPHA:79443
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, High-frequency hearing impairment, Elevated circulating creatine kinase... OMIM:619743
Mccune-Albright Syndrome
Aneurysmal bone cyst, Polyostotic fibrous dysplasia, Hearing impairment, Hypophosphatemia, Monost... ORPHA:562
Pseudohypoparathyroidism, Type Ia
Subcutaneous ossification, Osteoporosis, Enamel hypoplasia, Obesity, Hypocalcemic tetany, Hyperph... OMIM:103580
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hypoglycemia, Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Lipoma, Hypercalcemia, Osteomalacia, Renal hypophosphatem... ORPHA:405
Infantile Krabbe Disease
Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time, Decrease... ORPHA:206436
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Optic nerve compression, Hypocalcemia, Tremor, Heari... ORPHA:667
Infantile Nephropathic Cystinosis
Rickets, Hypokalemia, Failure to thrive, Glycosuria, Hypophosphatemia, Abnormal blood ion concent... ORPHA:411629
Dent Disease
Rickets, Delayed epiphyseal ossification, Elevated circulating creatine kinase concentration, Gly... ORPHA:1652
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Optic atrophy, Inability to walk, Abnormality of extrapyramidal motor function, Sensorineural hea... OMIM:614739
Raine Syndrome
Mixed hearing impairment, Subperiosteal bone formation, Increased bone mineral density, Abnormal ... OMIM:259775
Thyrotoxic Periodic Paralysis
Hyperkalemia, Paralysis, Transient hypophosphatemia, Respiratory paralysis, Tetraplegia, Tremor, ... ORPHA:79102
Pseudohypoparathyroidism Type 1C
Irritability, Calcinosis, Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, De... ORPHA:79444
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening, Hypercalcemia, Hyperphosp... OMIM:617994
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hypocalcemic seizures, Hypocalcemia, Chvostek sign, Hyperphosphatemia OMIM:146200
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia OMIM:603233
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Subperiosteal bone formation, Hyperostosis, Enamel hypoplasia, Hypercalcemia, Hyperph... OMIM:211900
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hypophosphatemic rickets, Hyperinsulinemia, Hyp... ORPHA:263455
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Reactive hypoglycemia, Lethargy ORPHA:469
Hyperparathyroidism, Neonatal Severe
Calcinosis, Failure to thrive, Hypercalcemia, Hypophosphatemia, Recurrent fractures OMIM:239200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hypocalcemia, Low-set ears, Patchy osteosclerosis, Posteriorly rotated ear... OMIM:241410
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Spastic tetraparesis, Failure to thrive, Dystonia, Elevated circulat... OMIM:614924
Cockayne Syndrome Type 1
Optic atrophy, Scarring, Difficulty walking, Foot joint contracture, Lower limb spasticity, Tremo... ORPHA:90321
Arthrogryposis, Distal, Type 2A
Flexion contracture of toe, Inguinal hernia, Shoulder flexion contracture, Recurrent fractures, E... OMIM:193700
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Joint stiffness, Hypophosphatemia, Umbilical hernia, Joint hypermobility, E... ORPHA:534
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Parathyroid Carcinoma
Lipoma, Osteoporosis, Hypercalcemia, Hypophosphatemia, Weight loss, Chondrocalcinosis ORPHA:143
Cystinosis, Nephropathic
Rickets, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulatin... OMIM:219800
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Ataxia, Tetraparesis, Opti... OMIM:619260
Neuroleptic Malignant Syndrome
Hyperkalemia, Oculogyric crisis, Hyperuricemia, Hypocalcemia, Chorea, Extrapyramidal muscular rig... ORPHA:94093
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Hypocalcemia, Abnormal dental enamel morphology, Abnormal pinn... ORPHA:2323
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Glycosuria, Failure to thrive, Hyponatremia, Hypophospha... ORPHA:411634
Abcd Syndrome
Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis, Abnormal audito... OMIM:600501
Hyperparathyroidism-Jaw Tumor Syndrome
Lipoma, Osteoporosis, Hypercalcemia, Hypophosphatemia, Chondrocalcinosis ORPHA:99880
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hyperalaninemia, Hearing impairment, Glycosuria, Hypomagnesemia, Hypop... ORPHA:699
Uremic Pruritus
Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Renal hypophosphatemia ORPHA:94059
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Failure to thrive, Glycosuria, Hypophosphatemi... OMIM:229600
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Distal sensory impairment, Aganglionic megacolon, Torticolli... OMIM:609136
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ... ORPHA:3240
Cockayne Syndrome B
Optic atrophy, Severe failure to thrive, Decreased nerve conduction velocity, Sensorineural heari... OMIM:133540
Alport Syndrome 3A, Autosomal Dominant
Hearing impairment, Sensorineural hearing impairment, Hypophosphatemia, Azotemia OMIM:104200
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Frequent falls, Abnormal auditory evoked potentials, Opt... OMIM:617523
Opsismodysplasia
Low-set ears, Posteriorly rotated ears, Hypophosphatemia OMIM:258480
Chronic Bilirubin Encephalopathy
Hypertonia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Cerebral palsy... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypertonia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Cerebral palsy... ORPHA:529799
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Epiphyseal stippling, Calvarial hyperostosis, Hearing impairment, Neonatal epiphys... OMIM:101800
Genetic Recurrent Myoglobinuria
Hyperkalemia, Difficulty walking, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Calvarial osteosclerosis, Decreased skull ossification, Cortical thickenin... ORPHA:93325
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Type I diabetes mellitus, Ataxia, Elevated hemoglobin A1c, Dyston... OMIM:616113
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Confusion, Elevated circulating creatine kinase concentration, Ataxia... ORPHA:466650
Hypomagnesemia 3, Renal
Rickets, Amelogenesis imperfecta, Hypocalcemic seizures, Increased circulating beta-C-terminal te... OMIM:248250
Trisomy 10P
EEG with burst suppression, Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked pote... ORPHA:171929
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Mend Syndrome
Limb hypertonia, Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Elevated 8... ORPHA:401973
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Confusion, Decreased body weight, Hyperphosphatemia, Elevated circulating creatinin... ORPHA:340
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238

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 Minar2

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 Minar2.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice. Proceedings of the National Academy of Sciences of the United States of America (June 2022) Minar2tm1a(KOMP)Wtsi Minar2tm1b(KOMP)Wtsi PMC9245706
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Minar2tm1b(KOMP)Wtsi PMC7263671
Loss of MINAR2 impairs motor function and causes Parkinson's disease-like symptoms in mice. Brain communications (April 2020) Minar2tm1a(KOMP)Wtsi PMC7425422
A gene expression resource generated by genome-wide lacZ profiling in the mouse. Disease models & mechanisms (August 2015) Minar2tm1b(KOMP)Wtsi PMC4631787

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Minar2tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Minar2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Minar2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Minar2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Minar2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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