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

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lacZ Expression

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

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

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

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

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Eye Morphology

Images Slit Lamp

2 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
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... OMIM:213600
Spinocerebellar Ataxia Type 12
Ataxia, Postural tremor, Parkinsonism, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... OMIM:241520
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait... ORPHA:521406
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... OMIM:617225
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Orthostatic hypotension, Rigidity, Depression, Bradykinesia, Dementia, Gait distu... OMIM:616710
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Falls, Shuffling... ORPHA:306692
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l... OMIM:128235
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Bradykinesia, Gait disturb... OMIM:618418
Huntington Disease-Like 2
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Weight loss, Deme... OMIM:606438
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Confusion, Parkinsonism, Rigidity, Chorea, Limb ataxia, Dysmetria, Gait... OMIM:607136
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... ORPHA:314632
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... ORPHA:454887
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Depression, Bradykinesia, Gait ataxia, Limb dystonia, ... ORPHA:71517
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai... OMIM:615528
Juvenile Huntington Disease
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... ORPHA:248111
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle... ORPHA:100984
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertoni... OMIM:618824
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Oromandibular dystonia, Spastic tetraplegia, Depression, Bradykinesia, Tip-toe gait, Ga... OMIM:615643
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Rigidity, Depression, Bradykinesia, Frontal lobe demen... OMIM:221820
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Depression, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairm... ORPHA:240085
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involunt... ORPHA:240103
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Postural tremor, Oculogyric crisis, Parkinsonism, Rigidity, Babinsk... ORPHA:101150
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia OMIM:605909
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... OMIM:300423
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Huntington Disease
Clonus, Chorea, Decreased body mass index, Depression, Clumsiness, Gait disturbance, Gait imbalan... ORPHA:399
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short attention span, Parkinsonism, Motor neuron atrophy, Frontotemporal dementia, Bradykinesia, ... ORPHA:412066
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Hemidystonia, Abnormal pyramidal sign, Optic atrophy, Bradykinesia, Spastic... OMIM:619052
Hypermanganesemia With Dystonia 2
Elevated circulating creatine kinase concentration, Progressive neurologic deterioration, Tremor,... OMIM:617013
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmetria, Abnormal nerve condu... ORPHA:98755
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Small for gestational age, Progressive neurologic deterioration, Parkinsonism, ... OMIM:261640
Infantile Dystonia-Parkinsonism
Cerebral palsy, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, I... ORPHA:238455
Spinocerebellar Ataxia, Autosomal Recessive 32
Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... OMIM:619862
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Elevated circulating creatine kinase concentration, Facial palsy, Hearing impairment, Opt... ORPHA:254886
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Oculogyric crisis, Parkinsonism, Bradykinesia, Hypertonia, Attention deficit hy... OMIM:617384
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, EEG with persistent abnormal rhythmic activity, Abnormal pyramidal sign, Gait ata... ORPHA:282166
Leber Optic Atrophy And Dystonia
Optic atrophy, Bradykinesia, Athetosis, Dementia, Dystonia, Spasticity, Upper motor neuron dysfun... OMIM:500001
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Parkinsonism, Tremor, Macrotia, Flexion contracture, Babinski sign, Obesi... OMIM:300055
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia OMIM:617836
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... OMIM:606159
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia ORPHA:306669
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Huntington Disease
Rigidity, Chorea, Depression, Bradykinesia, Gait ataxia, Dementia OMIM:143100
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Depression, Bradykinesi... ORPHA:157941
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance OMIM:609161
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Dementia, Abnormal autonomic nervous... ORPHA:329284
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Depression, Choreoathetosis, Bradykinesia, O... ORPHA:13
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Hearing impairment, Action tremor, Impaired distal... OMIM:300623
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Babinski sign, Limb at... OMIM:615157
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor OMIM:610297
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Bl... ORPHA:240094
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Spinocerebellar Ataxia 10
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Limb... OMIM:603516
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,... ORPHA:36387
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Dystonia, Ataxia, Incoordination, Sensorineural hearing impairment, Optic atrophy, Dysmetria, Gai... OMIM:601338
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Ataxia, Progressive flexion contractures, Postural tremor, Par... ORPHA:98808
Dravet Syndrome
Short attention span, Incoordination, Parkinsonism, Rigidity, Multifocal epileptiform discharges,... ORPHA:33069
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Short attention span, Broad-based gait, Lower limb spasticity, Ataxia, Inability to... OMIM:617854
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia OMIM:193100
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait disturbance... ORPHA:289560
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Dystonia, Elevated circulating creatine kinase concentration, Parkinsonism, Impaired distal propr... OMIM:258450
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Depression, Bradykinesia, Gait ataxia, Memory impair... OMIM:137440
Manganese Poisoning
Postural tremor, Confusion, Akinesia, Depression, Bradykinesia, Irritability, Memory impairment, ... ORPHA:306682
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Postural tremor, Parkinsonism, Rigidity, Unsteady gait, Bab... OMIM:183090
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesia, Blepharospas... ORPHA:53351
Neuroferritinopathy
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Palatal tremor, Ch... ORPHA:157846
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Memory impairment, Rigidity ORPHA:306686
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Loss of ambulation, Ataxia, Clumsiness, I... ORPHA:206443
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dementia, Abnormal autonomic nervous syst... OMIM:300894
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cog... ORPHA:70594
Machado-Joseph Disease
Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi... OMIM:109150
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Hyp... ORPHA:93160
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Progressive extrapyramidal muscular rigidity, Akinesia, Parkinsonism, Tremor, Abn... ORPHA:240071
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,... OMIM:617435
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, St... OMIM:613280
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Hypophosphatemia, Generalized osteoporosis, Chondrocalcinosis ORPHA:99879
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Weig... OMIM:168605
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Rickets, Glycosuria, Hy... OMIM:616026
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Mental deterioration, Optic atrophy, Depression, Bradyk... ORPHA:228346
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity, Attention deficit hyperactivity disorder OMIM:618878
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Caribbean Parkinsonism
Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ... ORPHA:97355
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Shuffling gait... OMIM:311510
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabecul... OMIM:277440
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Mental deterioration, Depression, Bradykinesia, Dementia,... OMIM:168601
Childhood-Onset Nemaline Myopathy
Waddling gait, Flexion contracture, Clumsiness, Bradykinesia, Poor fine motor coordination, Facia... ORPHA:171439
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia... OMIM:616881
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabecul... OMIM:264700
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Tremor, Abnormal pyramidal sign, Prelingual sensorineural he... ORPHA:52368
Parkinson Disease 14, Autosomal Recessive
Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel... OMIM:612953
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Inability to walk, Head titubation, Rigidity, Gait ataxia, Choreo... OMIM:618877
Sporadic Infantile Bilateral Striatal Necrosis
Short attention span, Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Bradykine... ORPHA:225147
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses, Positive Romber... OMIM:616515
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, Dementia, Falls, Cognit... ORPHA:683
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Ataxia, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia, Bradykin... ORPHA:98760
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Abnormal auto... OMIM:168600
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Glycosuria, Hypophosphatemia OMIM:613388
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Dementia, Shuffling... ORPHA:171695
Fanconi-Bickel Syndrome
Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Glycosu... ORPHA:2088
Spinocerebellar Ataxia Type 13
Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, ... ORPHA:98768
Adult-Onset Nemaline Myopathy
Flexion contracture, Bradykinesia, Poor fine motor coordination, Difficulty walking, Mildly eleva... ORPHA:171442
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Akinesia, Involuntary movements, Rigidity, Babinski sign, Abno... ORPHA:97349
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... OMIM:241530
Cystinosis
Rickets, Abnormal pyramidal sign, Hypokalemia, Gait disturbance, Hypophosphatemia, Type I diabete... ORPHA:213
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Decreased body weight, Spasticity, Failure to thrive ORPHA:99852
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Ir... ORPHA:289157
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glyco... OMIM:227810
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia ORPHA:89937
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Waddling gait, Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Red... ORPHA:157215
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Depression, Bradykinesia, Weight loss, Dementia... ORPHA:411602
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Spastic tetraparesis, Progressive cerebellar ataxia, Dystonia, Failure to thrive ORPHA:67046
Fanconi Renotubular Syndrome 1
Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Glycosuria OMIM:134600
Autoimmune Hypoparathyroidism
Increased bone mineral density, Confusion, Depression, Irritability, Hyperphosphatemia, Paresthes... ORPHA:36913
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dementia, Shuffling gait, Gait im... ORPHA:75567
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis... OMIM:606324
Young-Onset Parkinson Disease
Short attention span, Tremor, Rigidity, Depression, Bradykinesia, Frontal lobe dementia, Dementia... ORPHA:2828
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas... OMIM:601455
Linear Verrucous Nevus Syndrome
Mental deterioration, Hypophosphatemia, Reduced bone mineral density ORPHA:2611
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,... ORPHA:99027
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia,... OMIM:610217
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Glycosuria, Hypophosphatemia OMIM:618913
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... ORPHA:101085
Rett Syndrome
Increased serum pyruvate, Limb apraxia, Inability to walk, Hyperammonemia, Bradykinesia, EEG abno... ORPHA:778
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Hypoglycemia, Leucine-Induced
Ataxia, Hypoglycemia, Irritability, Hyperinsulinemic hypoglycemia, Spasticity OMIM:240800
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign, Hyperglycinemia OMIM:619063
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Antalgic gait, Osteomalacia, Hypercalcemia, Diabetes mel... ORPHA:249
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... OMIM:307800
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Hyp... ORPHA:254892
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Depression, De... ORPHA:93256
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
EEG with generalized epileptiform discharges, Bradykinesia, Slowed slurred speech, Attention defi... OMIM:619827
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t... ORPHA:199351
Refractory Celiac Disease
Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop... ORPHA:398063
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Waddling gait, Hypercalcemia, Knee flexion contracture, Hypophosphat... OMIM:156400
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Somatic sensory dysfunction, At... ORPHA:206448
Dent Disease 1
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Glycosuria, Sparse b... OMIM:300009
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Parkinsonism, Facial palsy, Impaired distal proprioception, Rigidity, Sensorineur... OMIM:157640
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo... OMIM:607060
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Hypoglycemia, Osteoporosis, Abnormal pyramidal sign, Dysmetria, ... ORPHA:48431
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis OMIM:600740
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progr... ORPHA:466722
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Rigidity, Inability to walk, Optic atrophy, Athetosis, Irritability, Gait disturban... OMIM:618241
Dent Disease 2
Umbilical hernia, Elevated circulating creatine kinase concentration, Cognitive impairment, Hypop... OMIM:300555
Blue Diaper Syndrome
Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,... ORPHA:94086
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Gait disturbance, Hypocalc... ORPHA:352540
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Classic Galactosemia
Speech apraxia, Incoordination, Ataxia, Postural tremor, Hypoglycemia, Osteoporosis, Reduced bone... ORPHA:79239
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Rigidity, Bradykinesia, P... ORPHA:309854
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Depression, Irritability, Hyper... ORPHA:94089
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... OMIM:146500
Huntington Disease-Like 3
Psychomotor deterioration, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Flexion co... ORPHA:157946
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy... OMIM:239000
Kufor-Rakeb Syndrome
Eyelid apraxia, Short attention span, Confusion, Oculogyric crisis, Parkinsonism, Rigidity, Babin... ORPHA:306674
Calciphylaxis
Ectopic ossification, Hyperphosphatemia, Cellulitis ORPHA:280062
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Papilledema, Small for gestational ag... OMIM:127000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Supranuclear Palsy, Progressive, 2
Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... OMIM:609454
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Parkinson Disease 21
Bradykinesia, Parkinsonism, Rigidity, Tremor OMIM:616361
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Rigidity, Parkinsonism OMIM:614251
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Increased susceptibility to fractures, ... ORPHA:3337
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Hypophosphatemia OMIM:308990
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sensorineural hearing impairment, ... ORPHA:89936
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Supranuclear Palsy, Progressive, 1
Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Irritabil... OMIM:601104
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Chorea, Oromandibular dystonia, Hypertonia, L... ORPHA:2388
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Cerebrotendinous Xanthomatosis
Osteopenia, Progressive psychomotor deterioration, Abnormal pyramidal sign, Abnormal motor evoked... ORPHA:909
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurologic deteriorat... OMIM:300438
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Confusion, Involuntary movements, Sensorineural heari... ORPHA:79443
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Autosomal Dominant Hypocalcemia
Writer's cramp, Optic atrophy, Depression, Reduced bone mineral density, Hyperphosphatemia, Pares... ORPHA:428
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia OMIM:612462
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... OMIM:619743
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... ORPHA:1215
Mccune-Albright Syndrome
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... ORPHA:562
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Obesity, Tetra... ORPHA:79102
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Obesity, Subcutaneous ossification, Hyperphosphatemia, Hypocalcemic tetany, Enamel ... OMIM:103580
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Glycosuria, Hypokalemia, Hypophosphatemia, Failure to ... ORPHA:411629
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Paresthesia, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany, ... ORPHA:94090
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Inability to walk, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia,... OMIM:614739
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Confusion, Obesity, Depression, Irritability, Hyperph... ORPHA:79444
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia, Enamel hypoplasia OMIM:211900
Dent Disease
Renal hypophosphatemia, Osteomalacia, Recurrent fractures, Elevated circulating creatine kinase c... ORPHA:1652
Infantile Krabbe Disease
Psychomotor deterioration, Lower limb spasticity, Prolonged brainstem auditory evoked potentials,... ORPHA:206436
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... ORPHA:405
Raine Syndrome
Increased bone mineral density, Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinn... OMIM:259775
Hypoparathyroidism, Familial Isolated, 1
Chvostek sign, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Tremor, Reduced bone mineral density, Hypocalcemia, Osteop... ORPHA:667
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Recurrent fractures, Hypophosphatemia, Failure to thrive OMIM:239200
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Elevated circulating alpha-fetoprotein concentration, Babinski sign, Bradyk... OMIM:614924
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Large for gestational age, Abnormal circulating fatty-acid ... ORPHA:263455
Hereditary Fructose Intolerance
Reactive hypoglycemia, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Lethargy ORPHA:469
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Low-set ears, H... OMIM:241410
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Failure to thrive, Small for gestational age, Rec... OMIM:193700
Cockayne Syndrome Type 1
Lower limb spasticity, Absent brainstem auditory responses, Foot joint contracture, Ataxia, Scarr... ORPHA:90321
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Clonus, Protruding ear, Hyponatremia, Low-set, posteriorly rotated ears, Osteomala... ORPHA:534
Parathyroid Carcinoma
Hypercalcemia, Osteoporosis, Weight loss, Hypophosphatemia, Lipoma, Chondrocalcinosis ORPHA:143
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hypoglycemia, Clonus, Athetosis, Hyperalaninemia OMIM:266150
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, Patchy osteosclerosis, Exte... ORPHA:2323
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Rickets, Reduced blood urea nitrog... OMIM:219800
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... ORPHA:411634
Neuroleptic Malignant Syndrome
Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio... ORPHA:94093
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,... OMIM:619260
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Osteoporosis, Hypophosphatemia, Lipoma, Chondrocalcinosis ORPHA:99880
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Pearson Syndrome
Diabetes mellitus, Ataxia, Small for gestational age, Hypophosphatemia, Glycosuria, Hypokalemia, ... ORPHA:699
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Fructose Intolerance, Hereditary
Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Le... OMIM:229600
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... OMIM:609136
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Sensorineural hearing impairment, Hearing impairment, Hypophosphatemia OMIM:104200
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Ataxia, Abnormal pinna morphology, Abnormal... OMIM:216400
Opsismodysplasia
Posteriorly rotated ears, Low-set ears, Hypophosphatemia OMIM:258480
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Ataxia, Small for gestational age, Abnormal auditory evoked ... OMIM:133540
Chronic Bilirubin Encephalopathy
Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypertonia... ORPHA:529808
Acute Bilirubin Encephalopathy
Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypertonia... ORPHA:529799
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Neonatal epiphyseal stippling, Optic atrophy, Epiphyseal stippling, Hy... OMIM:101800
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking ORPHA:99845
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, ... ORPHA:93325
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials OMIM:617523
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Hypoglycemia, Abnormal pyramidal sign, Progressive hearing impairment, Type II diabetes m... ORPHA:453533
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Ataxia, Elevated hemoglobin A1c, Progressive hearing impairment, Dystonia, Type I d... OMIM:616113
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Exercise-Induced Malignant Hyperthermia
Ataxia, Confusion, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphospha... ORPHA:466650
Trisomy 10P
Poor motor coordination, Small for gestational age, Abnormal auditory evoked potentials, Posterio... ORPHA:171929
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia ORPHA:79330
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... ORPHA:401973
Hemorrhagic Fever-Renal Syndrome
Confusion, Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Decrea... 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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MGI Allele Allele Type Produced
Minar2tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Minar2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Minar2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Minar2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Minar2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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