Gene: Minar2 MGI:2442934

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

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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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Eye Morphology

Images Slit Lamp

2 Images

Eye Morphology

Images Ophthalmoscopy

1 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Cyanide-Induced Parkinsonism-Dystonia
Apathy, Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Elbow fl... ORPHA:306692
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Dementia, Gait disturbance, Poor fine motor coordination, Abnorm... ORPHA:98762
Parkinson Disease 14, Autosomal Recessive
Tremor, Dystonia, Clumsiness, Aggressive behavior, Rigidity, Apraxia, Frontotemporal dementia, Br... OMIM:612953
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Aggres... OMIM:617225
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Transient hyperphenylalaninemia, Cogw... OMIM:128230
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Cognitive impairment, Rigi... OMIM:615528
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Bradykinesia, Ankle clonus, Progressive inability to walk, Multiple joint contr... ORPHA:521406
Huntington Disease-Like 2
Dystonia, Dementia, Chorea, Apathy, Action tremor, Bradykinesia, Weight loss, Irritability, Anxie... OMIM:606438
Hyperphenylalaninemia, Bh4-Deficient, A
Progressive neurologic deterioration, Tremor, Dystonia, Rigidity, Hyperphenylalaninemia, Hyperton... OMIM:261640
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Dementia, Speech apraxia, Gait distur... ORPHA:454887
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Flexion contracture, Bradykinesia, Ankle clonus, Parkinsonism... OMIM:617013
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
Caribbean Parkinsonism
Dystonia, Apraxia, Rigidity, Dementia, Autonomic bladder dysfunction, Progressive gait ataxia, Or... ORPHA:97355
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Rigidity, Parkinsonism with favorable response to dopaminergic med... ORPHA:240103
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Aggressive behavior, Dementia, Rigidity, C... OMIM:607136
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Emotional lability, Torticollis... ORPHA:71517
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Aggressive behavior, Dementia, Abnormality of extrapyramidal motor function, Sp... OMIM:300894
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Dystonia, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Apat... ORPHA:240085
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Lethargy, Abnormality of extrapyramidal motor function, Ataxia, Bra... ORPHA:101150
Huntington Disease
Dystonia, Decreased body mass index, Clumsiness, Poor fine motor coordination, Weight loss, Memor... ORPHA:399
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Resting tremor, Bradykinesia, Parkinsonism, Anxiety, Rigidity OMIM:605909
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Parkinsonism, Dysmetria, Memory ... OMIM:618317
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Chorea, Ataxia, Bradykinesia, Weight loss, Progressive cerebella... ORPHA:248111
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Fasciculations, Inertia, Chorea, Gait disturbance,... ORPHA:98755
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Gait disturbance, Toe walking, Lower limb hypertonia, Bradykinesia,... ORPHA:100984
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Paresthesia, Parkinsonism with favorable response to dopaminergic medication, ... ORPHA:254886
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Dystonia, Apraxia, Aggressive behavior, Spastic paraparesis, Incoordi... OMIM:615157
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Spastic hemiparesis, Emotional lability, Progressive extrapyramidal muscular rigidity... ORPHA:282166
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Aggressive behavior, Dementia, Spastic paraparesis, Abnormal autonomic nervous ... ORPHA:329284
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Dystonia, Rigidity, Dementia, Chorea, Subcortical dementia, Blepharospasm, Ataxia, Bradyk... OMIM:606159
Parkinson Disease 22, Autosomal Dominant
Tremor, Orthostatic hypotension, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Rigidity, Limb ataxia, Hypertonia, Bradykinesia, Parkinsonism, Generalized dystonia, Limb dystoni... OMIM:618824
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Rigidity, Chorea, Gait disturbance, Abnorma... OMIM:213600
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Action tremor, Bradykinesia, Parkinsonism, Babinski sign OMIM:300423
Dystonia 16
Postural tremor, Involuntary movements, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, ... OMIM:612067
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic paraparesis, Gait disturbance, Toe walking, Bradykinesia, Spastic tet... OMIM:615643
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Bradykinesia, Ataxia, EEG abnormality, Rigidity OMIM:617836
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Dystonia 12
Dystonia, Bradykinesia, Emotional lability, Unsteady gait, Torticollis, Parkinsonism, Anxiety OMIM:128235
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Rigidity, Frontal lobe dementia, Bradykinesia, Memory impairment, Mental deterioration, ... OMIM:221820
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Osteopenia OMIM:619073
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Rigidity, Spasticity OMIM:183050
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Aggressive behavior, Akinesia, Dementia, Parkinsonism with ... OMIM:606693
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Dementia, Poor fine motor coordination, Resting... OMIM:300623
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Involuntary movements, Dementia, Incoordination, Chorea, Gait disturbanc... ORPHA:157941
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Rigidity, Dementia, Speech apraxia, Abnormal pyramidal ... ORPHA:99750
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Osteomalacia, Rickets OMIM:193100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Positive Romberg sign, Gait ataxia, Steppage gait, Limb ataxia, Mildly elevated creatine kinase, ... OMIM:258450
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Osteopenia, Rickets, Glycosuria OMIM:613388
Multiple System Atrophy, Cerebellar Type
Postural tremor, Gait ataxia, Axial dystonia, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:227510
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait, Hemidystonia, Optic at... OMIM:619052
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Infantile Dystonia-Parkinsonism
Abnormal circulating carboxylic acid concentration, Dystonia, Chorea, Hypertonia, Abnormal pyrami... ORPHA:238455
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Gait ataxia, Axial dystonia, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:98933
Huntington Disease
Gait ataxia, Dementia, Chorea, Bradykinesia, Rigidity OMIM:143100
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Memory impairment, Rigidity, Bradykinesia ORPHA:306686
Neuroferritinopathy
Dystonia, Involuntary movements, Difficulty walking, Chorea, Subcortical dementia, Palatal myoclo... ORPHA:157846
Striatal Degeneration, Autosomal Dominant 1
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia OMIM:609161
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Hypsarrhythmia, Chorea, Hyperto... ORPHA:13
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, EEG with spike-wave complexes, Limited knee extension, Poor fine motor co... ORPHA:36387
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Progressive flexion contractures, Gait ataxia, Transient hyperphenylalaninemia, ... ORPHA:98808
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia, Osteopenia, Increased susceptibility to fractures, Osteoporosis OMIM:612287
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Unsteady gait,... OMIM:617435
Dravet Syndrome
Cogwheel rigidity, Incoordination, EEG with focal epileptiform discharges, Progressive gait ataxi... ORPHA:33069
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Frequent falls, Rigidity, Spastic paraparesis, Gait disturbance, Bradykinesia, Parkinso... ORPHA:289560
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal tr... ORPHA:93160
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Chondrocalcinosis, Generalized osteoporosis, Hypercalcemia, Infantile hypercalc... ORPHA:99879
Multiple System Atrophy
Postural tremor, Gait ataxia, Axial dystonia, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:102
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Dementia, Limb ataxia, Oculomo... OMIM:183090
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Aggressive behavior, Dementia, Apraxia, Limb ataxia, Bradyki... OMIM:137440
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Axial dystonia, Dystonia, Akinesia, Parkinsonism with favorable response to dopaminergic ... ORPHA:240071
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic diplegia, Emotional lability,... ORPHA:206443
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Osteopenia, Increased susceptibility to fractures, Osteoporosis OMIM:612286
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Lethargy, Ataxia, Bradykinesia OMIM:618683
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Bradykinesia, Oculogyric crisis, Limb hypertonia, Small for gestational age, Co... ORPHA:70594
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Rickets, Glycosuria, Osteomalacia, Hypokalemia OMIM:134600
Manganese Poisoning
Postural tremor, Dystonia, Cogwheel rigidity, Aggressive behavior, Akinesia, Abnormality of extra... ORPHA:306682
Ravine Syndrome
Decreased body weight, Ataxia, Abnormal auditory evoked potentials, Failure to thrive, Spasticity ORPHA:99852
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:613643
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Limb hypertonia, Parkinsonism, Attention d... OMIM:617384
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Glycosuria, Osteomalacia, Hypokalemia, Failure to thrive, Reduced... OMIM:227810
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Machado-Joseph Disease
Dystonia, Truncal ataxia, Impaired vibratory sensation, Dementia, Abnormality of extrapyramidal m... OMIM:109150
Perry Syndrome
Tremor, Dystonia, Rigidity, Akinesia, Apathy, Frontotemporal dementia, Bradykinesia, Weight loss,... OMIM:168605
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hand tremor, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abn... ORPHA:79299
Hypermanganesemia With Dystonia 1
Tremor, Dystonia, Increased total iron binding capacity, Rigidity, Spastic paraparesis, Abnormali... OMIM:613280
Childhood-Onset Nemaline Myopathy
Slender build, Arthrogryposis multiplex congenita, Clumsiness, Difficulty walking, Mildly elevate... ORPHA:171439
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Orthosta... OMIM:606721
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Rickets, Postprandial hyperglycemia, Impaired glucose tol... ORPHA:2088
Mohr-Tranebjaerg Syndrome
Dystonia, Sensorineural hearing impairment, Generalized dystonia, Abnormality of somatosensory ev... ORPHA:52368
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification... OMIM:600081
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Gait ataxia, Truncal ataxia, Dystonia, Rigidity, Hypertonia, Hemiballi... OMIM:618877
Adult-Onset Nemaline Myopathy
Difficulty walking, Mildly elevated creatine kinase, Flexion contracture, Bradykinesia ORPHA:171442
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Rickets, Osteomalacia ORPHA:89937
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide lev... ORPHA:157215
Postencephalitic Parkinsonism
Cogwheel rigidity, Paresthesia, Akinesia, Abnormal pyramidal sign, Resting tremor, Bradykinesia, ... ORPHA:97349
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Rickets, Hypophosphatemic rickets, Recurrent fractures, Thin bony cortex, Delay... OMIM:241530
Leber Optic Atrophy And Dystonia
Dystonia, Dementia, Bradykinesia, Upper motor neuron dysfunction, Athetosis, Optic atrophy, Spast... OMIM:500001
Progressive Supranuclear Palsy
Tremor, Dystonia, Dementia, Blepharospasm, Bradykinesia, Unsteady gait, Falls, Cognitive impairme... ORPHA:683
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Enamel hypoplasia, Rickets, Recurrent fractures, Thin bony cortex, Delayed epip... OMIM:264700
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Gout, Hypert... OMIM:610947
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Reduced bone mineral density ORPHA:2611
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Rickets, Hypophosphatemic rickets, Recurrent fractures, Osteomalacia, Thin bony... OMIM:300554
Parkinsonian-Pyramidal Syndrome
Dystonia, Dementia, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, Bradyk... ORPHA:171695
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Hyperglycinemia, Babinski sign, Bradykinesia OMIM:619063
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Enamel hypoplasia, Rickets, Recurrent fractures, Thin bony cortex, Delayed epip... OMIM:277440
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia, Irritability, Spasticity OMIM:240800
Spinocerebellar Ataxia Type 13
Gait ataxia, Clumsiness, Difficulty walking, Limb ataxia, Bradykinesia, Torticollis, Hearing impa... ORPHA:98768
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets, Glycosuria OMIM:618913
Young-Onset Parkinson Disease
Tremor, Dystonia, Rigidity, Dementia, Apathy, Abnormal autonomic nervous system physiology, Brady... ORPHA:2828
Autosomal Dominant Progressive External Ophthalmoplegia
Abnormality of extrapyramidal motor function, Hypertonia, Elevated circulating creatine kinase co... ORPHA:254892
Hereditary Late-Onset Parkinson Disease
Dystonia, Rigidity, Akinesia, Dementia, Parkinsonism with favorable response to dopaminergic medi... ORPHA:411602
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Enamel hypoplasia, Rickets, Osteomalacia, Increased susceptibilit... ORPHA:289157
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Sensorineural hearing impairment, Abnorm... ORPHA:99027
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Adult Krabbe Disease
Hemiplegia, Progressive neurologic deterioration, Hoffmann sign, Clumsiness, Prolonged brainstem ... ORPHA:206448
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Positive Romberg sign, Impaired pain sensation, Gait ataxia, Flexion contractu... ORPHA:101085
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Somatic sensory dysfunction, Lower ... ORPHA:320401
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Inertia, Dementia, Dysesthesia, Gait disturbance, Abnormal autonomic nervous system ... ORPHA:93256
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Hypertonia, Bradykinesia, Emotional lability, ... OMIM:610217
Primary Progressive Freezing Gait
Postural tremor, Dementia, Difficulty walking, Bradykinesia, Babinski sign, Clonus, Frequent fall... ORPHA:75567
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets OMIM:612089
Parkinson Disease 1, Autosomal Dominant
Dystonia, Rigidity, Dementia, Gait disturbance, Resting tremor, Bradykinesia, Parkinsonism, Myocl... OMIM:168601
Waisman Syndrome
Cogwheel rigidity, Dementia, Resting tremor, Bradykinesia, Parkinsonism, Shuffling gait OMIM:311510
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Chorea, Gait disturbance, Resting tremor, Bradykinesia, Progre... ORPHA:225147
Parkinson Disease, Late-Onset
Tremor, Dystonia, Dementia, Resting tremor, Bradykinesia, Abnormal autonomic nervous system physi... OMIM:168600
Rett Syndrome
Inability to walk, Limb apraxia, Dystonia, Difficulty walking, Increased serum pyruvate, Gait dis... ORPHA:778
Dent Disease 1
Hypophosphatemia, Rickets, Recurrent fractures, Glycosuria, Osteomalacia, Thin bony cortex, Delay... OMIM:300009
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Adult-Onset Dystonia-Parkinsonism
Abnormal circulating creatine kinase concentration, Tremor, Dystonia, Clumsiness, Eyelid apraxia,... ORPHA:199351
Cystinosis
Hypophosphatemia, Rickets, Hypokalemia, Type I diabetes mellitus, Failure to thrive ORPHA:213
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hearing impairment, Pathologic fracture, Hypercalcemia, Hip contracture, Knee f... OMIM:156400
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Progressive hearing impairment, Hypoglycemia, Ataxia OMIM:616113
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypo... ORPHA:398063
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Hypercalcemia, Multiple lipomas OMIM:600740
Parkinson Disease 8, Autosomal Dominant
Dementia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradyk... OMIM:607060
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Hypophosphatemic rickets, Osteomalacia, Enamel hypomineralization, Osteoarthritis OMIM:307800
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger, Paresthesia, Abnormal pyramidal sign, Hypoglycemia, Ataxia... ORPHA:48431
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Spastic tetraparesis, Failure to thrive, Bradykinesia OMIM:614924
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m... OMIM:600501
Choreoacanthocytosis
Hair-pulling, Hypertonia, Head titubation, Weight loss, Emotional lability, Head-banging, Progres... ORPHA:2388
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormal... OMIM:617519
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Macular scar, Ankylosis, Hydroxyprolinemia, Recurrent fractures, Hyperuricemia, Inc... OMIM:239000
Fibrous Dysplasia Of Bone
Hypophosphatemia, Osteolysis, Patchy reduction of bone mineral density, Rickets, Fibrous dysplasi... ORPHA:249
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration, Umbilical hernia OMIM:300555
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Dystonia, Mental deterioration, Rigidity, Akinesia, Dementia, Abnormality of extrapyramid... OMIM:234200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Metacarpal periosteal thickening, Hypercalcemia, Osteopenia, Calvarial osteosclerosis, Hyperphosp... OMIM:617994
Parkinson Disease 20, Early-Onset
Tremor, Dystonia, Eyelid apraxia, Rigidity, Bradykinesia, Parkinsonism, Mental deterioration, Shu... OMIM:615530
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Dystonia, Progressive spastic paraplegia, Bradykinesia, Weakness due to uppe... ORPHA:466722
Spinocerebellar Ataxia Type 8
Dystonia, Gait ataxia, Impaired vibratory sensation, Limb ataxia, Ataxia, Bradykinesia, Unsteady ... ORPHA:98760
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Sensorineural hearing impairment, Hypoglycemia OMIM:617950
Calciphylaxis
Cellulitis, Ectopic ossification, Hyperphosphatemia ORPHA:280062
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bra... OMIM:157640
Supranuclear Palsy, Progressive, 1
Tremor, Axial dystonia, Eyelid apraxia, Akinesia, Apathy, Bradykinesia, Frontolimbic dementia, Fa... OMIM:601104
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
3-Methylglutaconic Aciduria Type 1
Dystonia, Spastic tetraparesis, Hypoglycemia, Progressive cerebellar ataxia, Failure to thrive ORPHA:67046
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Dystonia, Increased total iron binding capacity, Truncal ataxia, Rigidity, Hy... ORPHA:309854
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Papilledema, Transient hypophosphatemia, Increased bone mineral density, Small for ... OMIM:127000
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Fibrous dysplasia of the bones, Pathologic fracture, Increased su... ORPHA:352540
Classic Galactosemia
Osteoporosis, Postural tremor, Dystonia, Lethargy, Clumsiness, Incoordination, Speech apraxia, Ga... ORPHA:79239
X-Linked Hypophosphatemia
Hypophosphatemia, Craniosynostosis, Cellulitis, Rickets, Generalized osteosclerosis, Enthesitis, ... ORPHA:89936
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Abnormal auditory evoked potentials, Distal sensory impairm... OMIM:601455
Supranuclear Palsy, Progressive, 2
Postural tremor, Eyelid apraxia, Axial dystonia, Akinesia, Apathy, Bradykinesia, Frontolimbic dem... OMIM:609454
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Renal hypophosph... ORPHA:289176
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Hypoglycemia, Hyperalaninemia, Small for gestational age, Failure to thrive, Cognitive ... OMIM:614702
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Multiple System Atrophy 1, Susceptibility To
Tremor, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Ataxia, Bradykines... OMIM:146500
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Familial Parathyroid Adenoma
Hypophosphatemia, Recurrent fractures, Generalized osteoporosis, Hypercalcemia, Osteopenia, Polya... ORPHA:99877
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Glycosuria OMIM:308990
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sens... ORPHA:1215
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Hypocalcemia, Increased bone density with cystic changes, Hypocalcemic tetany,... ORPHA:94089
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipi... OMIM:232700
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Chondrocalcinosis, Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Infantil... ORPHA:405
Cerebrotendinous Xanthomatosis
Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus, Abnormal motor evoked ... ORPHA:909
Hypophosphatemic Rickets
Hypophosphatemia, Rickets, Craniofacial osteosclerosis, Odontodysplasia, Enthesitis, Fibrous dysp... ORPHA:437
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Postural hypotension with compensatory tachycardia, Abnorm... ORPHA:369873
Mccune-Albright Syndrome
Hypophosphatemia, Recurrent fractures, Aneurysmal bone cyst, Fibrous dysplasia of the bones, Oste... ORPHA:562
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Osteoporosis, Hypocalcemic tetany, Hyperphosphatemia, Obesity OMIM:612462
Kufor-Rakeb Syndrome
Eyelid apraxia, Lethargy, Rigidity, Dementia, Difficulty walking, Apathy, Gait disturbance, Hyper... ORPHA:306674
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Subperiosteal bone formation, Hyperostosis, Calcinosis, Hyperphosphatemia OMIM:211900
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Dent Disease
Rickets, Renal hypophosphatemia, Recurrent fractures, Glycosuria, Osteomalacia, Thin bony cortex,... ORPHA:1652
Glycerol Kinase Deficiency
Osteoporosis, Lethargy, Hypoglycemia, Hypertriglyceridemia, Pathologic fracture, Small for gestat... OMIM:307030
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Infantile Nephropathic Cystinosis
Hypophosphatemia, Rickets, Abnormal blood ion concentration, Glycosuria, Hypokalemia, Failure to ... ORPHA:411629
Raine Syndrome
Hypophosphatemia, Enamel hypoplasia, Arthrogryposis multiplex congenita, Abnormality of the pinna... OMIM:259775
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Osteoporosis, Hypocalcemic tetany, Hyperphosphatemia, Obesity OMIM:103580
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Obesity OMIM:603233
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Hypoargininemia, Abnormal circulating threonine con... ORPHA:79096
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalcemia, Osteoporosis, Chondrocalcinosis ORPHA:99878
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Bilateral sensorineural hearing impairment, Insulin resistance, Congenital sensorin... ORPHA:73272
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Posteriorly rotated ears, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteoscl... OMIM:241410
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Recurrent fractures, Calcinosis, Hypercalcemia, Failure to thrive OMIM:239200
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Hypoglycemia, Irritability, Failure to thrive, Osteopenia, Hyperlipidemia ORPHA:369
Infantile Krabbe Disease
Progressive neurologic deterioration, Prolonged brainstem auditory evoked potentials, Decreased n... ORPHA:206436
Arthrogryposis, Distal, Type 2A
Restricted neck movement due to contractures, Flexion contracture of finger, Inguinal hernia, Cam... OMIM:193700
Parathyroid Carcinoma
Osteoporosis, Hypophosphatemia, Chondrocalcinosis, Weight loss, Hypercalcemia, Infantile hypercal... ORPHA:143
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Tremor, Craniosynostosis, Recurrent fractures, Osteopetrosis, Red... ORPHA:667
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Inability to walk, Dystonia, Abnormality of extrapyramidal motor function, Hypoglycemia, Sensorin... OMIM:614739
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis, Hypophosphatemia, Chondrocalcinosis, Hypercalcemia, Infantile hypercalcemia, Lipoma ORPHA:99880
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Craniosynostosis, Sensorineural hearing impairment, Conducti... OMIM:201050
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Cockayne Syndrome Type 1
Enamel hypoplasia, Tremor, Increased blood urea nitrogen, Macrotia, Difficulty walking, Scarring,... ORPHA:90321
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia ORPHA:469
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Gait ... OMIM:618120
Thyrotoxic Periodic Paralysis
Tremor, Postprandial hyperglycemia, Mildly elevated creatine kinase, Transient hypophosphatemia, ... ORPHA:79102
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Sanjad-Sakati Syndrome
Hypocalcemia, Abnormal dental enamel morphology, Low-set, posteriorly rotated ears, Hyperphosphat... ORPHA:2323
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Rickets, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Hyperphosphatasia With Mental Retardation Syndrome 3
Hearing impairment, Hyperphosphatemia OMIM:614207
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Abnormal dental enamel morphology, Joint h... ORPHA:534
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hypoglycemia, Glycosuria, Fa... OMIM:229600
Cockayne Syndrome A
Tremor, Dementia, Atypical scarring of skin, Gait disturbance, Abnormality of the pinna, Ataxia, ... OMIM:216400
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Speech apraxia, Psychomotor deterioration, Increased leve... ORPHA:79237
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Head titubation, Absent brain... ORPHA:3240
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Calcinosis,... ORPHA:79443
Autosomal Dominant Hypocalcemia
Hypocalcemia, Reduced bone mineral density, Hypomagnesemia, Optic atrophy, Hyperphosphatemia ORPHA:428
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Gait disturbance, Hypoglycemia, Myoclonus, Athetosis, Optic atrophy, Rigidity OMIM:618241
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Calcinosis,... ORPHA:79444
Cockayne Syndrome B
Osteoporosis, Tremor, Atypical scarring of skin, Reduced subcutaneous adipose tissue, Abnormality... OMIM:133540
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Opsismodysplasia
Hypophosphatemia OMIM:258480
Acrodysostosis 1 With Or Without Hormone Resistance
Epiphyseal stippling, Neonatal epiphyseal stippling, Hearing impairment, Small for gestational ag... OMIM:101800
Nephrotic Syndrome, Type 14
Hypoglycemia, Ataxia, Hypertriglyceridemia, Sensorineural hearing impairment, Hypoalbuminemia, Me... OMIM:617575
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Sensorineural hearing impairment, Azotemia OMIM:104200
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Tetraparesis, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Opti... OMIM:619260
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Glycosuria, Hearing impairment, Hypokalemia, Hyperalaninemia, Sma... ORPHA:699
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Dystonia, Aggressive behavior, Hypertonia, Hypoglycemia, Ataxia, Limb hypertonia, Spastic tetrapl... OMIM:617710
Glutaric Acidemia I
Dystonia, Rigidity, Elevated circulating glutaric acid concentration, Spastic diplegia, Hypoglyce... OMIM:231670
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529799
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Decreased skull oss... ORPHA:93325
Pyruvate Carboxylase Deficiency
Dystonia, Hypernatremia, Hypoglutaminemia, Increased level of L-glutamic acid in blood, Elevated ... ORPHA:3008
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Hypoglycemia OMIM:614736
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hearing impairment, Recurrent fractures, Hyperphosphatemia, Obesity ORPHA:457059
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Dystonia, Involuntary movements, Incoordination, Abnormality of extrapyram... ORPHA:480864
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Spastic paraparesis, Long-segment aganglionic megacolon, At... OMIM:609136
Neuroleptic Malignant Syndrome
Hypocalcemia, Tremor, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentra... ORPHA:94093
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Hypoglycemia, Acute hyperammonemia, Opisthotonus, Failure to thrive OMIM:210200
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Gait ataxia, Gait disturbance, Poor coordination, Spastic diplegia, Hypoglycemia, Ataxi... OMIM:616878
Maple Syrup Urine Disease
Lethargy, Elevated plasma branched chain amino acids, Hypertonia, Hypoglycemia, Ataxia, Elevated ... OMIM:248600
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Lethargy, Orthostatic hypotension, Decreased circulating corti... ORPHA:199299
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Abnormal pyramidal sign, Hypoglycemia, Ataxia, Hypoinsulinemia, Type II diabetes mellit... ORPHA:453533
Mend Syndrome
Aggressive behavior, Elevated 8-dehydrocholesterol, Limb hypertonia, Abnormal auditory evoked pot... ORPHA:401973
Trisomy 10P
Flexion contracture of thumb, Low voltage EEG, Macrotia, Camptodactyly, EEG with burst suppressio... ORPHA:171929
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Diabetes mellitus, Hyperphosphatemia, Obesity ORPHA:280651
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:466650

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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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

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MGI Allele Allele Type Produced
Minar2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Minar2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Minar2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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