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Gene: Minar2 MGI:2442934

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Gene Summary

Name:
membrane integral NOTCH2 associated receptor 2
Synonyms:
A730017C20Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Minar2tm1b(KOMP)Wtsi HOM   Early adult 1.26×10-09
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
decreased circulating phosphate level Minar2tm1b(KOMP)Wtsi HOM   Early adult 1.29×10-05
abnormal auditory brainstem response Minar2tm1b(KOMP)Wtsi HOM   Early adult 5.20×10-12
decreased body length Minar2tm1b(KOMP)Wtsi HOM Early adult 4.60×10-06
decreased circulating glucose level Minar2tm1b(KOMP)Wtsi HOM   Early adult 7.02×10-05
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 bone mineral density Minar2tm1b(KOMP)Wtsi HOM Early adult 1.89×10-08

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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.

Eye Morphology

Images Slit Lamp

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Forepaw

14 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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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
Mental deterioration, Depression, Memory impairment, Athetosis, Chorea, Limb dysmetria, Tremor, R... OMIM:213600
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Impaired distal vibration sensation, Incoordination, Postural tremor,... OMIM:128230
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Shuffling gait, Memory impairment, Falls, Short attention span, Par... ORPHA:412066
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Sensorineural hearing impairment, Hypophosphatemia, Craniosyno... OMIM:241520
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Loss of ambulation, Babinski sign,... ORPHA:521406
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Mental deterioration, Spastic paraplegia, Falls, Resting tremor, Ga... OMIM:617225
Parkinson Disease 22, Autosomal Dominant
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:616710
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Elbow flexion contracture, R... ORPHA:306692
Dystonia 12
Depression, Emotional lability, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait, Brady... OMIM:128235
Spastic Paraplegia 80, Autosomal Dominant
Mental deterioration, Spastic paraplegia, Limb ataxia, Dystonia, Babinski sign, Lower limb spasti... OMIM:618418
Huntington Disease-Like 2
Memory impairment, Depression, Chorea, Action tremor, Irritability, Rigidity, Dystonia, Weight lo... OMIM:606438
Parkinsonism With Polyneuropathy
Depression, Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sen... OMIM:619279
Spinocerebellar Ataxia 17
Broad-based gait, Depression, Confusion, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia,... OMIM:607136
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism w... ORPHA:314632
Rapid-Onset Dystonia-Parkinsonism
Depression, Resting tremor, Gait ataxia, Emotional lability, Limb dystonia, Parkinsonism, Craniof... ORPHA:71517
Corticobasal Syndrome
Involuntary movements, Memory impairment, Somatic sensory dysfunction, Limb myoclonus, Progressiv... ORPHA:454887
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... OMIM:615528
Caribbean Parkinsonism
Autonomic bladder dysfunction, Frontal lobe dementia, Myoclonus, Action tremor, Rigidity, Dystoni... ORPHA:97355
Juvenile Huntington Disease
Broad-based gait, Depression, Chorea, Gait ataxia, Myoclonus, Irritability, Rigidity, Dystonia, W... ORPHA:248111
Autosomal Dominant Spastic Paraplegia Type 3
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Rigidity, Ankle clonus, Babinski sign,... ORPHA:100984
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Mental deterioration, Memory impairment, Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyra... OMIM:618317
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Mental deterioration, Generalized dystonia, Limb ataxia, Limb dystonia, Rigidity, Babinski sign, ... OMIM:618824
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... ORPHA:210571
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Neurodegeneration With Brain Iron Accumulation 6
Mental deterioration, Depression, Spastic paraparesis, Tip-toe gait, Rigidity, Dystonia, Gait dis... OMIM:615643
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Mental deterioration, Spasticity, Memory impairment, Depression, Somatic sensory dysfunction, Shu... OMIM:221820
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Memory impairment, Depression, Falls, Tremor, Rigidity, Dystonia, Parkinson... ORPHA:240085
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Involuntary movements, Memory impairment, Somatic sensory dysfunction, Limb... ORPHA:240103
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Gait ataxia, Myoclonus, Limb dystonia, ... ORPHA:101150
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Resting tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia OMIM:605909
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impaired tandem... OMIM:300423
Huntington Disease
Mental deterioration, Abnormal circulating cholesterol concentration, Difficulty walking, Weight ... ORPHA:399
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Spastic gait, Bradyki... OMIM:619052
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-toe gait, Inability to w... OMIM:617013
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Tremor, Irritability, Rigidity, Dystonia, Parkinsonism, Hyperphenylala... OMIM:261640
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Optic atrophy, Abnormal nerve conduction velocity, Memory impairme... ORPHA:98755
Infantile Dystonia-Parkinsonism
Oculogyric crisis, Cerebral palsy, Chorea, Irritability, Dystonia, Parkinsonism, Abnormal pyramid... ORPHA:238455
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:620482
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Oculogyric crisis, Dystonia, Attention deficit hyperactivity disorder, Parkinso... OMIM:617384
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Somatic sensory dysfunction, Limb myoclonus, Postural tremor,... OMIM:619862
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Dystonia, Ataxia, Truncal ataxia, Bradykinesia, Intention tremor OMIM:601238
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Shuffling gait, Depression, Hearing impairment, Paresthesia, Cogwheel rigidity, Ac... ORPHA:254886
Inherited Creutzfeldt-Jakob Disease
Emotional lability, Abnormal pyramidal sign, Bradykinesia, Slurred speech, Progressive cerebellar... ORPHA:282166
Leber Optic Atrophy And Dystonia
Optic atrophy, Spasticity, Upper motor neuron dysfunction, Dystonia, Dementia, Bradykinesia, Athe... OMIM:500001
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, EEG with generalized slo... OMIM:300055
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Emotional lability, Decreased circulating ... OMIM:606159
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, EEG abnormality, Ataxia, Dystonia OMIM:617836
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia ORPHA:306669
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... OMIM:612067
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia OMIM:183050
Huntington Disease
Depression, Chorea, Gait ataxia, Rigidity, Dementia, Bradykinesia OMIM:143100
Fragile X Tremor/Ataxia Syndrome
Mental deterioration, Depression, Memory impairment, Resting tremor, Poor fine motor coordination... OMIM:300623
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal autonomic ... ORPHA:329284
Huntington Disease-Like 1
Involuntary movements, Depression, Memory impairment, Incoordination, Chorea, Gait ataxia, Simult... ORPHA:157941
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Depression, Falls, Oculogyric crisis, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisth... ORPHA:13
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Spastic paraparesis, Resting tremor, Hearing impairment, Incoordination, Limb ataxia,... OMIM:615157
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Falls, Focal dystonia, Extrapyramidal muscular rigidity, Spe... ORPHA:99750
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Focal dystonia, Postural tremor, Gait ataxia... OMIM:600116
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Depression, Resting tremor, Autonomic bladder dysfunction, Postural tremor, Lim... ORPHA:227510
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, EEG with spike-wave complexes, Tremor, Limited knee extension, Cognitive impairme... ORPHA:36387
Multiple System Atrophy, Parkinsonian Type
Depression, Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dy... ORPHA:98933
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Dravet Syndrome
EEG with generalized epileptiform discharges, Incoordination, Short attention span, Action tremor... ORPHA:33069
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Arm dystonia, Undetectable visual evoked potentials, Hearing impairment, Progressi... OMIM:601338
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Tremor,... OMIM:606693
Autosomal Dominant Dopa-Responsive Dystonia
Depression, Rheumatoid arthritis, Hearing impairment, Generalized dystonia, Impaired vibration se... ORPHA:98808
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Inability to walk, Short attention span, Myoclonus, Sensorineural h... OMIM:617854
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Mitochondrial Membrane Protein-Associated Neurodegeneration
Mental deterioration, Spasticity, Spastic paraparesis, Shuffling gait, Optic atrophy, Hand tremor... ORPHA:289560
Spinocerebellar Ataxia 10
Depression, Incoordination, Decreased nerve conduction velocity, Limb ataxia, Gait ataxia, Limb f... OMIM:603516
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Spastic paraparesis, Difficulty walking, Emotional lability, Impaired tacti... ORPHA:206443
Multiple System Atrophy
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... ORPHA:102
Gerstmann-Straussler Disease
Spasticity, Depression, Memory impairment, Limb ataxia, Gait ataxia, Emotional lability, Myoclonu... OMIM:137440
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Depression, Limb ataxia, Gait ataxia, Positive Romberg sign, Emotional lability, E... OMIM:258450
Manganese Poisoning
Memory impairment, Depression, Confusion, Postural tremor, Akinesia, Cogwheel rigidity, Emotional... ORPHA:306682
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus... OMIM:183090
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Frontal l... ORPHA:157846
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand... ORPHA:53351
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Memory impairment, Rigidity ORPHA:306686
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Chorea, Bradykinesia, Ataxia OMIM:618683
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Ab... OMIM:300894
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Cognitive impairm... ORPHA:70594
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures OMIM:612287
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Facial-lingual fasciculations, Fasciculations, Limb ata... OMIM:109150
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hypocalcemia, Hypophosph... ORPHA:93160
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Falls, Progressive extrapyramidal muscular rigidity, Akinesi... ORPHA:240071
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Increased total iron binding capacity, Tremor, Rigidity, Abnormality of extr... OMIM:613280
Lopes-Maciel-Rodan Syndrome
Spasticity, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Unsteady gait, B... OMIM:617435
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... OMIM:619911
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Attention deficit hyperactivity d... OMIM:619725
Familial Isolated Hyperparathyroidism
Osteopenia, Chondrocalcinosis, Hypophosphatemia, Generalized osteoporosis, Hypercalcemia ORPHA:99879
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures OMIM:612286
Mohr-Tranebjaerg Syndrome
Mental deterioration, Prelingual sensorineural hearing impairment, Sensorineural hearing impairme... ORPHA:52368
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Rickets, Glycosuria, Hypoglycemia, Large for gestational age, Hypophosphatemia, Dia... OMIM:616026
Perry Syndrome
Short stepped shuffling gait, Depression, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Fro... OMIM:168605
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Attention deficit hyperactivity disorder, Lower limb spasticity, Bradykinesia OMIM:618878
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Failure to... OMIM:616881
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Failure to thrive, Difficulty walking, Hypocalcemia, Sp... OMIM:600081
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Hearing impairment, Failure to thrive, Difficulty walki... OMIM:277440
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Failure to thrive, Difficulty walking, Hypocalcemia, Sp... OMIM:264700
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Progressive Supranuclear Palsy
Blepharospasm, Memory impairment, Depression, Falls, Emotional lability, Tremor, Irritability, Ri... ORPHA:683
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigidity, Dystonia,... OMIM:618877
Parkinson Disease 14, Autosomal Recessive
Mental deterioration, Spasticity, Resting tremor, Axial dystonia, Hemiparesis, Loss of ambulation... OMIM:612953
Childhood-Onset Nemaline Myopathy
Arthrogryposis multiplex congenita, Difficulty walking, Slender build, Facial diplegia, Clumsines... ORPHA:171439
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... ORPHA:320401
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... OMIM:616515
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Sh... ORPHA:225147
Postencephalitic Parkinsonism
Involuntary movements, Depression, Oculogyric crisis, Resting tremor, Akinesia, Paresthesia, Cogw... ORPHA:97349
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Spasticity, Depression, Limb ataxia, Gait ataxia, Rigidity, Dystoni... ORPHA:98760
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Parkinson Disease 1, Autosomal Dominant
Mental deterioration, Shuffling gait, Depression, Resting tremor, Myoclonus, Rigidity, Loss of am... OMIM:168601
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Glycosuria, Osteomalacia, Hypophosphatemia, Recurrent fractures OMIM:613388
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Osteopenia, Rickets, Failure to thrive, Glycosuria, Hypophosphatemia,... ORPHA:2088
Parkinsonian-Pyramidal Syndrome
Spasticity, Shuffling gait, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal ... ORPHA:171695
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Failure to thrive, Difficulty walking, Hypophosphatemic... OMIM:241530
Spinocerebellar Ataxia Type 13
Optic atrophy, Hearing impairment, Difficulty walking, Limb ataxia, Gait ataxia, Myoclonus, Clums... ORPHA:98768
Cystinosis
Type I diabetes mellitus, Rickets, Failure to thrive, Hypokalemia, Gait disturbance, Hypophosphat... ORPHA:213
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... OMIM:601455
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Depression, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonis... OMIM:168600
Ravine Syndrome
Spasticity, Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight, Ataxia ORPHA:99852
Fanconi-Bickel Syndrome
Hypouricemia, Postprandial hyperglycemia, Rickets, Failure to thrive, Glycosuria, Osteomalacia, H... OMIM:227810
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Rickets, Hypocalcemia, Osteomalacia ORPHA:89937
Adult-Onset Nemaline Myopathy
Difficulty walking, Bradykinesia, Flexion contracture, Mildly elevated creatine kinase ORPHA:171442
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur... ORPHA:157215
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Shuffling gait, Depression, Resting tremor, Akinesia, Low frustration toler... ORPHA:411602
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia, Spastic tetraparesis, Dystonia, Progressive cerebellar ataxia ORPHA:67046
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Confusion, Paresthesia, H... ORPHA:36913
Fanconi Renotubular Syndrome 1
Rickets, Glycosuria, Osteomalacia, Hypokalemia, Hypophosphatemia OMIM:134600
Young-Onset Parkinson Disease
Spasticity, Depression, Frontal lobe dementia, Gait imbalance, Short attention span, Tremor, Rigi... ORPHA:2828
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Primary Progressive Freezing Gait
Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Rigidity, Babinski sign, Clo... ORPHA:75567
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear... OMIM:617519
Linear Verrucous Nevus Syndrome
Mental deterioration, Hypophosphatemia, Reduced bone mineral density ORPHA:2611
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Paresthesia, Increased bo... ORPHA:94089
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Distal sensory impairment... ORPHA:99027
Rett Syndrome
Failure to thrive, Bradykinesia, Difficulty walking, Inability to walk, Hyperammonemia, Dystonia,... ORPHA:778
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets, Glycosuria OMIM:618913
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal amplitude of pattern reversal visual evoked potentials, Abnor... OMIM:125250
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Spasticity, Optic atrophy, Chorea, Gait ataxia, Emotional lability, Dysmetr... OMIM:610217
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Spasticity, Bro... ORPHA:206448
Parkinson Disease 20, Early-Onset
Mental deterioration, Involuntary movements, Shuffling gait, Short stepped shuffling gait, Tremor... OMIM:615530
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Optic nerve hypoplasia, Somatic sensory dysfunction, Impaired pain ... ORPHA:101085
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Rickets, Failure to thrive, Osteomalacia, Difficulty walking, Hy... ORPHA:289157
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Fibrous Dysplasia Of Bone
Rickets, Hearing impairment, Osteomalacia, Difficulty walking, Cortical irregularity, Pathologic ... ORPHA:249
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia, Hyperglycinemia OMIM:619063
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Hearing impairment, Cognitive impairment, Ataxia, Bradykinesia, Depression, Gluco... ORPHA:254892
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Hypoglycemia, Leucine-Induced
Spasticity, Hypoglycemia, Irritability, Hyperinsulinemic hypoglycemia, Ataxia OMIM:240800
Fragile X-Associated Tremor/Ataxia Syndrome
Depression, Memory impairment, Gait ataxia, Intention tremor, Dysmetria, Rigidity, Parkinsonism, ... ORPHA:93256
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Osteoporosis, Hypop... ORPHA:398063
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Depression, Abnormal circulating creati... ORPHA:199351
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Memory impairment, EEG with generalized epileptiform discharges, Attention deficit hyperactivity ... OMIM:619827
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Enamel hypomineralization, Hypophosphatemia, Ost... OMIM:307800
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Finger joint contracture, Chorea, Paresthesia, Abnormality of peripheral nerve cond... ORPHA:48431
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Depression, Resting tremor, Hand tremor, Gait ataxia, Rigidity, Sensorineural hearing impairment,... OMIM:157640
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Glycosuria, Osteomalacia, Sparse bone trabeculae, Hypop... OMIM:300009
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hearing impairment, Pathologic fracture, Hip contracture, Knee flexion contracture, H... OMIM:156400
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Multiple lipomas, Hypophosphatemia, Hypercalcemia OMIM:600740
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets OMIM:612089
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Myoclonus, Paroxysmal dystonia, Loss of ambulation, Babinski sign... ORPHA:466722
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Paresthesia, Hypocalcemia, Myoclonic ... ORPHA:94090
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Hypoglycemia, Inability to walk, Myoclonus, Rigidity, Loss of ambulation, Irritabi... OMIM:618241
Dent Disease 2
Umbilical hernia, Hypophosphatemia, Cognitive impairment, Elevated circulating creatine kinase co... OMIM:300555
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia, Increased body wei... ORPHA:94086
Oncogenic Osteomalacia
Pathologic fracture, Hypocalcemia, Increased susceptibility to fractures, Fibrous dysplasia of th... ORPHA:352540
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Mental deterioration, Spasticity, Depression, Optic atrophy, Akinesia, Tremor, Rig... OMIM:234200
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Cognitive impairment, Orthostatic hypotension, Ata... OMIM:146500
Classic Galactosemia
Mental deterioration, Depression, Hypoglycemia, Incoordination, Speech apraxia, Postural tremor, ... ORPHA:79239
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Papilledema, Transient hypophosp... OMIM:127000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Spastic paraparesis, Increased total iron binding ... ORPHA:309854
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia OMIM:618618
Huntington Disease-Like 3
Spasticity, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormality of extrapyram... ORPHA:157946
Kufor-Rakeb Syndrome
Blepharospasm, Mental deterioration, Oculogyric crisis, Difficulty walking, Confusion, Short atte... ORPHA:306674
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Hearing impairment, Failure to thrive, Increased bone mineral dens... OMIM:239000
Calciphylaxis
Cellulitis, Ectopic ossification, Hyperphosphatemia ORPHA:280062
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... OMIM:610532
Supranuclear Palsy, Progressive, 2
Memory impairment, Falls, Frontolimbic dementia, Postural tremor, Gait imbalance, Retrocollis, Ak... OMIM:609454
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Resting tremor, Abnormal motor evoked potentials, Parkinsonism, ... ORPHA:909
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory re... ORPHA:1215
Choreoacanthocytosis
Mental deterioration, Resting tremor, Limb dystonia, Emotional lability, Loss of ambulation, Park... ORPHA:2388
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick... ORPHA:289176
X-Linked Hypophosphatemia
Cellulitis, Limitation of joint mobility, Rickets, Sensorineural hearing impairment, Hypophosphat... ORPHA:89936
Hsd10 Mitochondrial Disease
Optic atrophy, Spasticity, Spastic tetraplegia, Hypoglycemia, Sensorineural hearing impairment, E... OMIM:300438
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Glycosuria OMIM:308990
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Supranuclear Palsy, Progressive, 1
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Retrocollis, Limb dyst... OMIM:601104
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Osteomalac... ORPHA:3337
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia, Osteoporosis OMIM:612462
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Decreased moto... OMIM:601596
Autosomal Dominant Hypocalcemia
Optic atrophy, Depression, Hyperphosphatemia, Hypomagnesemia, Paresthesia, Emotional lability, Hy... ORPHA:428
Combined Oxidative Phosphorylation Deficiency 55
High-frequency hearing impairment, Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating... OMIM:619743
Pseudohypoparathyroidism Type 1A
Involuntary movements, Depression, Hyperphosphatemia, Ectopic ossification, Laryngeal dystonia, H... ORPHA:79443
Mccune-Albright Syndrome
Aneurysmal bone cyst, Hearing impairment, Osteomalacia, Monostotic fibrous dysplasia, Fibrous dys... ORPHA:562
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Subcutaneous ossification, Enamel hypoplasia, Os... OMIM:103580
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia OMIM:605911
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Lipoma, Hypocalcemic se... ORPHA:405
Infantile Krabbe Disease
Hyperesthesia, Mental deterioration, Spasticity, Optic atrophy, Delayed brainstem auditory evoked... ORPHA:206436
Autosomal Recessive Malignant Osteopetrosis
Hearing impairment, Optic nerve compression, Hypocalcemia, Otitis media, Tremor, Hypophosphatemia... ORPHA:667
Infantile Nephropathic Cystinosis
Rickets, Failure to thrive, Glycosuria, Hypokalemia, Hypophosphatemia, Abnormal blood ion concent... ORPHA:411629
Dent Disease
Renal hypophosphatemia, Delayed epiphyseal ossification, Rickets, Glycosuria, Osteomalacia, Spars... ORPHA:1652
Raine Syndrome
Low-set ears, Arthrogryposis multiplex congenita, Protruding ear, Hypophosphatemia, Enamel hypopl... OMIM:259775
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Optic atrophy, Spasticity, Failure to thrive, Hypoglycemia, Inability to walk, Hyperammonemia, Ab... OMIM:614739
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Periodic hypokalemic paresis, Hypomagnesemia, O... ORPHA:79102
Pseudohypoparathyroidism Type 1C
Depression, Hyperphosphatemia, Ectopic ossification, Laryngeal dystonia, Hypocalcemic tetany, Con... ORPHA:79444
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Hyperc... OMIM:617994
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Irritability, Chvostek sign, Hypocalcemic seizures OMIM:146200
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Hyperostosis, Enamel hypoplasia, Subperiosteal bone formation, Calcinosis, Hyp... OMIM:211900
Hereditary Fructose Intolerance
Hypermagnesemia, Reactive hypoglycemia, Hyperuricemia, Lethargy, Hypophosphatemia ORPHA:469
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Hypophosphatemic rickets, Hyperinsulinemia, Hypoketotic hy... ORPHA:263455
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Hypophosphatemia, Calcinosis, Hypercalcemia, Recurrent fractures OMIM:239200
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Post... OMIM:241410
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Bradykinesia, Spastic tetraparesis, Babinski sign, Dystonia, Elevated circulat... OMIM:614924
Cockayne Syndrome Type 1
Optic atrophy, Foot joint contracture, Hearing impairment, Failure to thrive, Difficulty walking,... ORPHA:90321
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... OMIM:193700
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Hypophosphatemia, Clonus, Chronic otitis media, Atypical scarring of skin, Depressi... ORPHA:534
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Parathyroid Carcinoma
Chondrocalcinosis, Lipoma, Hypophosphatemia, Weight loss, Osteoporosis, Hypercalcemia ORPHA:143
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Rickets, Failure to thrive, Glycosuria, Hypomagnes... OMIM:219800
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level 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
Abnormal auditory evoked potentials, Tetraparesis, Sensorineural hearing impairment, Ataxia, Opti... OMIM:619260
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Extrapyramidal muscular rigidity, Chorea, H... ORPHA:94093
Juvenile Nephropathic Cystinosis
Hypouricemia, Failure to thrive, Glycosuria, Elevated circulating creatinine concentration, Hypoc... ORPHA:411634
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Low-set, posteriorly rotated ears, Abnormal dental enam... ORPHA:2323
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m... OMIM:600501
Hyperparathyroidism-Jaw Tumor Syndrome
Chondrocalcinosis, Lipoma, Hypophosphatemia, Osteoporosis, Hypercalcemia ORPHA:99880
Pearson Syndrome
Hearing impairment, Glycosuria, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hype... ORPHA:699
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia ORPHA:94059
Cockayne Syndrome A
Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Limitation of join... OMIM:216400
Fructose Intolerance, Hereditary
Failure to thrive, Hypoglycemia, Glycosuria, Hyperbilirubinemia, Hyperuricemia, Lethargy, Hypopho... 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
Spasticity, Spastic paraparesis, Hearing impairment, Decreased nerve conduction velocity, Short-s... OMIM:609136
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Head titubatio... ORPHA:3240
Cockayne Syndrome B
Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Limitation of join... OMIM:133540
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia, Hearing impairment, Sensorineural hearing impairment OMIM:104200
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Frequent falls, Abnormality of visual evo... OMIM:617523
Opsismodysplasia
Low-set ears, Hypophosphatemia, Posteriorly rotated ears OMIM:258480
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Cerebral palsy... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Cerebral palsy... ORPHA:529799
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Hyperphosphatemia, Hearing impairment, Calvarial hyperostosis, Epiphyseal stipplin... OMIM:101800
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyperkalemia, Highly elevated creatine kinase ORPHA:99845
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Decreased skull ossification, Papilledema, Calvarial oste... ORPHA:93325
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia, Progressive hearing impairment, Ataxia, Elevated hemoglob... OMIM:616113
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Confusion, Hypocalcemia, Elevated circulating creatine kinase concentration, L... ORPHA:466650
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Rickets, Hypo... OMIM:248250
Trisomy 10P
Low-set ears, Poor motor coordination, Abnormal auditory evoked potentials, EEG with burst suppre... ORPHA:171929
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... ORPHA:79330
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Elevated 8(9)-cholestenol, ... ORPHA:401973
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Confusion, Elevated circulating creatinine concentration, Decreased body weigh... 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

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

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