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Gene: Hspd1 MGI:96242

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Gene Summary

Name:
heat shock protein 1 (chaperonin)
Synonyms:
Hsp60

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
abnormal coat/hair pigmentation Hspd1em1(IMPC)J HET Early adult 4.20×10-12
embryonic lethality prior to organogenesis Hspd1em1(IMPC)J HOM   E9.5 0.00
preweaning lethality, complete penetrance Hspd1em1(IMPC)J HOM   Early adult 0.00
abnormal vocalization Hspd1em1(IMPC)J HET Early adult 2.94×10-10

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lacZ Expression

Expression data not available

Associated Images

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

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Hspd1 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 Hspd1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spastic Paraplegia 13, Autosomal Dominant
Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Spastic paraplegia, ... OMIM:605280
Autosomal Dominant Spastic Paraplegia Type 13
Abnormal pyramidal sign, Lower limb muscle weakness, Impaired vibration sensation in the lower li... ORPHA:100994
Leukodystrophy, Hypomyelinating, 4
Progressive spasticity, Hypotonia, Head titubation, Spastic paraplegia, Flexion contracture, Babi... OMIM:612233

The table below shows human diseases predicted to be associated to Hspd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair OMIM:609227
Parkinsonism-Dystonia 1, Infantile-Onset
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Morphological abnor... OMIM:613135
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... OMIM:214450
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb amyotrophy, Spinal cord lesion, Clonus, Progressive spastic paraplegia, Lower limb mus... ORPHA:171863
Spastic Paraplegia 2, X-Linked
Flexion contracture, Lower limb muscle weakness, Skeletal muscle atrophy, Spinocerebellar tract d... OMIM:312920
Dystonia 9
Abnormal pyramidal sign, Paresthesia, Morphological abnormality of the pyramidal tract, Spastic p... OMIM:601042
Albinism, Oculocutaneous, Type Iii
Partial albinism, Red hair, Albinism OMIM:203290
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Parkinsonism, Weakness due to upper motor neuron dysfunction, Progressive cerebella... ORPHA:275872
Juvenile Primary Lateral Sclerosis
Spasticity, Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, Skeletal muscle atrophy, A... ORPHA:247604
Spastic Paraplegia 6, Autosomal Dominant
Clonus, Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Degeneration... OMIM:600363
Primary Lateral Sclerosis, Adult, 1
Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic gait, Babinski sign, Spastic ... OMIM:611637
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia,... ORPHA:95434
Autosomal Dominant Spastic Paraplegia Type 8
Limb ataxia, Peroneal muscle atrophy, Spinal cord lesion, Clonus, Progressive spastic paraplegia,... ORPHA:100989
Spastic Paralysis, Infantile-Onset Ascending
Spastic tetraplegia, Abnormal lower motor neuron morphology, Achilles tendon contracture, Tetrapl... OMIM:607225
Neuronopathy, Distal Hereditary Motor, Type Viib
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Abnormal lower motor neuron ... OMIM:607641
Tietz Syndrome
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Fiber type grouping, Distal lower limb muscle weakness, Decreased a... OMIM:500013
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Spinocerebellar Ataxia 13
Spasticity, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Morphological ab... OMIM:605259
Dystonia 16
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Morphological abnormality of the pyramidal ... OMIM:612067
Uncombable Hair Syndrome
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia ORPHA:1410
Gerstmann-Straussler-Scheinker Syndrome
Limb myoclonus, Paresthesia, Morphological abnormality of the pyramidal tract, Lower limb muscle ... ORPHA:356
Amyotrophic Lateral Sclerosis 8
Abnormal pyramidal sign, Proximal amyotrophy, Morphological abnormality of the pyramidal tract, D... OMIM:608627
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Weakness of facial mu... ORPHA:457050
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Decreased activity of mitochondrial complex IV, Spastic diplegia, Myoclonus, Increased va... OMIM:619065
Spinal Muscular Atrophy, Type Iv
Quadriceps muscle atrophy, Proximal amyotrophy, Hand tremor, Spinal muscular atrophy, Type 1 musc... OMIM:271150
Huntington Disease-Like 3
Spasticity, Abnormal pyramidal sign, Morphological abnormality of the pyramidal tract, Ataxia, Ab... OMIM:604802
Spastic Paraplegia Type 7
Abnormal pyramidal sign, Somatic sensory dysfunction, Lower limb muscle weakness, Impaired vibrat... ORPHA:99013
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb amyotrophy, Limb ataxia, Spinal cord lesion, Clonus, Progressive spastic paraplegia, L... ORPHA:100999
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired pain sensation, Impaired proprioception, Impaired vibratory sensation, Abnormal motor ne... DECIPHER:29
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Parkinsonism, Morphological abnormality of the pyramidal tract, Rigidity... OMIM:260540
Spastic Paraplegia 8, Autosomal Dominant
Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Degeneration of the ... OMIM:603563
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Proximal amyotrophy, Ataxia, Hypotonia, Decreased activity ... OMIM:500002
Autosomal Dominant Spastic Paraplegia Type 37
Spinal cord lesion, Clonus, Progressive spastic paraplegia, Lower limb muscle weakness, Impaired ... ORPHA:171612
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Frequent falls, Tetraparesis, Abnormal pyramidal sign, Morphological abnormality of the pyramidal... OMIM:607483
Spastic Paraplegia 3, Autosomal Dominant
Distal lower limb amyotrophy, Lower limb muscle weakness, Impaired vibration sensation in the low... OMIM:182600
Adult Krabbe Disease
Spasticity, Tetraparesis, Frequent falls, Upper motor neuron dysfunction, Somatic sensory dysfunc... ORPHA:206448
Autosomal Dominant Spastic Paraplegia Type 38
Thenar muscle weakness, Spinal cord lesion, Distal lower limb muscle weakness, Progressive spasti... ORPHA:171617
Spinocerebellar Ataxia 8
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Morphological abnormality of ... OMIM:608768
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Upper limb spasti... OMIM:205100
Autosomal Dominant Spastic Paraplegia Type 73
Spastic gait, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Progressive spasti... ORPHA:444099
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Amyotrophic Lateral Sclerosis 1
Spasticity, Pseudobulbar paralysis, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasci... OMIM:105400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Spasticity, Tetraparesis, Proximal muscle weakness in lower limbs, Ankle clonus, Type 1 muscle fi... OMIM:613954
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Z-band str... OMIM:617158
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb amyotrophy, Spinal cord lesion, Progressive spastic paraplegia, Hand muscle weakness, ... ORPHA:320355
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Autophagic vacuoles, Distal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Rimme... OMIM:618655
Primary Lateral Sclerosis, Juvenile
Spastic gait, Spastic dysarthria, Pseudobulbar paralysis, Spasticity of pharyngeal muscles, Abnor... OMIM:606353
Primary Lateral Sclerosis
Spasticity, Spastic gait, Somatic sensory dysfunction, Weakness due to upper motor neuron dysfunc... ORPHA:35689
Gne Myopathy
Lower limb amyotrophy, Shoulder girdle muscle weakness, Hip flexor weakness, Lower limb muscle we... ORPHA:602
Spinocerebellar Ataxia 10
Abnormal pyramidal sign, Distal sensory impairment, Limb ataxia, Progressive cerebellar ataxia, M... OMIM:603516
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in lower limbs, Fiber type grouping, Weakness of facial musculature, Sca... OMIM:619733
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Hsd10 Mitochondrial Disease
Spasticity, Spastic tetraplegia, Hypotonia, Generalized hypotonia, Abnormal mitochondrial morphol... OMIM:300438
Sandhoff Disease, Adult Form
Spasticity, Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Focal dystonia, Tremor... ORPHA:309169
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Frequent falls, Distal sensory impairment, Lower limb amyotrophy, Somatic sensory dysfunction, Up... OMIM:616924
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Generalized hypotonia, Decreased activity of mito... OMIM:618378
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb amyotrophy, Limb ataxia, Spinal cord lesion, Clonus, Progressive spastic paraplegia, L... ORPHA:100993
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Impaired distal vibration sensation, Ankle clonus, Lower limb muscle weakness, Skeletal m... OMIM:604360
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:606952
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Spastic Paraplegia 4, Autosomal Dominant
Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Degeneration of the ... OMIM:182601
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Type 1 muscle fiber predominance, Necrotizing myopathy, Skeletal muscle a... ORPHA:178464
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Abnormality of extrapyramidal motor function, Athetosis, Decreased activity of mitochondr... OMIM:615159
Familial Congenital Mirror Movements
Clumsiness, Agenesis of corpus callosum, Cerebral palsy, Morphological abnormality of the cortico... ORPHA:238722
Spastic Paraplegia 7, Autosomal Recessive
Upper limb hypertonia, Lower limb muscle weakness, Impaired vibration sensation in the lower limb... OMIM:607259
Woolly Hair
Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S... ORPHA:170
Ermine Phenotype
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow OMIM:227010
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Intrinsic hand muscle atrophy, Impaired distal vibration... ORPHA:276435
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Ataxia, Myopathy OMIM:551500
Hidrotic Ectodermal Dysplasia
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... ORPHA:189
Spinocerebellar Ataxia 28
Spasticity, Parkinsonism, Limb ataxia, Somatic sensory dysfunction, Abnormal activity of mitochon... OMIM:610246
L-2-Hydroxyglutaric Aciduria
Abnormal pyramidal sign, Morphological abnormality of the pyramidal tract, Ataxia, Abnormality of... OMIM:236792
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Torticollis, Hypotonia, Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Congenital... OMIM:613204
Nemaline Myopathy 2
Frequent falls, Arthrogryposis multiplex congenita, Sternocleidomastoid amyotrophy, Muscle fiber ... OMIM:256030
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Abnormal pyramidal sign, Distal amyotrophy, Abnormal lower motor neuron morphology, A... OMIM:602099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Fatty replacement of skeletal muscle, Muscle fiber necro... OMIM:618848
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Shoulder girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Fatty replace... ORPHA:266
Spinal Muscular Atrophy, Type Iii
Hand tremor, Shoulder girdle muscle weakness, Limb fasciculations, Spinal muscular atrophy, Pelvi... OMIM:253400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Distal lower limb muscle w... OMIM:601954
Oculopharyngodistal Myopathy 3
Ataxia, Distal amyotrophy, Weakness of facial musculature, Tremor, Increased endomysial connectiv... OMIM:619473
Hypotrichosis 8
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... OMIM:278150
Boucher-Neuhauser Syndrome
Spasticity, Ataxia, Distal amyotrophy, Abnormal upper motor neuron morphology, Gait ataxia, Inten... OMIM:215470
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Type 1 muscle fiber predominance, Lower limb muscle weakness, Generalized hypo... OMIM:619042
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal pyramidal sign, Distal sensory impairment, Morphological abnormality of the pyramidal tr... OMIM:256850
Dna2-Related Mitochondrial Dna Deletion Syndrome
Myopathy, Generalized hypotonia, Multiple joint contractures, Limb-girdle muscle weakness, Decrea... ORPHA:352470
Combined Oxidative Phosphorylation Deficiency 18
Hypotonia, Skeletal muscle atrophy, Tremor, Decreased activity of mitochondrial complex I, Dysmet... OMIM:615578
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Hypotonia, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Inc... OMIM:617760
Friedreich Ataxia 2
Abnormality of the spinocerebellar tracts, Morphological abnormality of the pyramidal tract, Atax... OMIM:601992
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Morphological abnormality of the pyramidal tract ORPHA:83629
Distal Myopathy, Tateyama Type
Distal sensory impairment, Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalitie... ORPHA:488650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Paresthesia, Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy... OMIM:254110
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613265
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Babinski sign, Increased mitochondrial number, Br... OMIM:619063
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Spastic tetraplegia, Morphological abnormality of the pyramidal tract, A... OMIM:256600
Narp Syndrome
Myoclonic spasms, Abnormal mitochondria in muscle tissue, Ataxia, Progressive gait ataxia, Babins... ORPHA:644
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Central core regions in muscle fibers, Progressive extrapyramidal movement disorder, Chor... ORPHA:401768
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Type 1 muscle fiber predominance, Central core regions in muscle fibers, Weakness of facial muscu... OMIM:117000
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Proximal muscle weakness in lower limbs, Myopathy, Muscle fiber inclusion bodies, Limb-girdle mus... OMIM:615424
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, Lower limb muscle weakness, Mitochondrial swelling, EMG: myopathic abnormalities, Fatty... ORPHA:397744
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Distal lower limb muscle weakness, Flexion contracture of finger, Increased endomysial connective... ORPHA:206549
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vac... ORPHA:611
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Myopathy, Clumsiness, EMG: myop... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Scapular winging, Limb-girdle muscular dystrophy, Increased endomys... OMIM:608099
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacement of skeletal muscl... OMIM:618940
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Myopathy, Hypotonia, Type 1 muscle fiber predominance, Knee flexion contr... OMIM:616313
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:607624
Bethlem Myopathy 2
Myopathy, Hypotonia, Generalized hypotonia, Scapular winging, Increased variability in muscle fib... OMIM:616471
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Congenital Myopathy 14
Hypotonia, Type 1 muscle fiber predominance, Knee flexion contracture, Weakness of facial muscula... OMIM:618414
Mitochondrial Complex I Deficiency, Nuclear Type 21
Spasticity, Ataxia, Myopathy, Babinski sign, Decreased activity of mitochondrial complex I, Ragge... OMIM:618242
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Fatty replacement of ... OMIM:301075
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Facial diplegia, Paucity of anterior horn motor neurons, ... OMIM:611890
Congenital Myopathy 8
Type 1 muscle fiber predominance, Weakness of facial musculature, Generalized hypotonia, Muscle f... OMIM:618654
Amyotrophic Lateral Sclerosis 21
Distal sensory impairment, Shoulder girdle muscle weakness, Distal lower limb muscle weakness, Ha... OMIM:606070
Severe X-Linked Mitochondrial Encephalomyopathy
Generalized hypotonia, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, S... ORPHA:238329
Amyotrophic Lateral Sclerosis 11
Upper motor neuron dysfunction, Skeletal muscle atrophy, Somatic sensory dysfunction, Amyotrophic... OMIM:612577
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Distal amyotrophy, Abnormal lower motor neuron morphology, Scapuloperone... OMIM:611067
Spastic Paraplegia 9A, Autosomal Dominant
Hoffmann sign, Abnormal upper motor neuron morphology, Gait ataxia, Impaired vibratory sensation,... OMIM:601162
Amyotrophic Lateral Sclerosis 16, Juvenile
Lower limb muscle weakness, Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis... OMIM:614373
Myasthenic Syndrome, Congenital, 14
Hypotonia, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber tubular... OMIM:616228
Waardenburg Syndrome, Type 2A
Synophrys, Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Par... OMIM:193510
Myopathy, Tubular Aggregate, 1
Frequent falls, Proximal amyotrophy, Myopathy, Type 1 muscle fiber predominance, Type 2 muscle fi... OMIM:160565
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Weakness of facial musculature, Postural tremor, EMG: myopathic abnormalitie... OMIM:619790
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Parkinsonism, Paraparesis, Apraxia, Abnormal lower motor neuron morphology, Skeleta... OMIM:105550
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Rigidity, Dystonia, Weakness of facial musculature, Bradykinesia, Facial palsy, Impa... OMIM:258450
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Frequent falls, Limb myoclonus, Eyelid myoclonus, Clumsiness, Lower limb muscle weakness, Abnorma... ORPHA:2590
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Infantile muscular hypotonia, Arthrogryposis multiplex co... ORPHA:1145
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Centr... ORPHA:2593
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Myopathy, Weakness of facial musculature, Increased endomysial connective tiss... OMIM:611705
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Spinal Muscular Atrophy, Type Ii
Spinal muscular atrophy, Hand tremor, Skeletal muscle atrophy, Tongue fasciculations, Degeneratio... OMIM:253550
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Muscle fiber inclusion bodies... ORPHA:399058
Adult-Onset Nemaline Myopathy
Myopathy, Lower limb muscle weakness, Type 1 muscle fiber predominance, EMG: myopathic abnormalit... ORPHA:171442
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, EMG: myopathic abnormalities, Fatty replacement of skeletal muscle... ORPHA:52430
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Muscle fiber intracytoplasmic reducing inclusion bodies, Rimmed vacuoles, Increas... OMIM:300718
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Hypotonia, Diaphragmatic paralysis, EMG: myopathic abnormalities, Neonat... OMIM:614399
Machado-Joseph Disease Type 3
Spasticity, Abnormal pyramidal sign, Distal lower limb amyotrophy, Progressive cerebellar ataxia,... ORPHA:276244
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Dihydropyrimidinase Deficiency
Abnormal pyramidal sign, Extrapyramidal dyskinesia, Morphological abnormality of the pyramidal tract OMIM:222748
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy, F... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy, F... OMIM:616437
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Muscular dystrophy, Generalized hypotonia, Facial palsy, Increased endomysial connectiv... OMIM:602541
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypertrophy, EMG: myopathic abno... OMIM:300696
Myopathy, Distal, Tateyama Type
Intrinsic hand muscle atrophy, Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance, ... OMIM:614321
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Fatty replacement of skeletal muscle, Abnormal muscle fiber morphology, Ri... ORPHA:34516
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Z... OMIM:619178
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Paralysis OMIM:105500
Woolly Hair Nevus
Woolly scalp hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Curl... ORPHA:79414
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... ORPHA:895
Amyotrophic Lateral Sclerosis 9
Spasticity, Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
Congenital Myopathy 6 With Ophthalmoplegia
Myopathy, Type 1 muscle fiber predominance, Generalized hypotonia, Scapular winging, Muscle fiber... OMIM:605637
Albinism, Oculocutaneous, Type Ii
Blue irides, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentat... OMIM:203200
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Frequent falls, Shoulder girdle muscle weakness, Muscle fiber splitting, Myofibrillar myopathy, S... OMIM:603689
Congenital Myopathy 18
Hypotonia, Fatty replacement of skeletal muscle, Increased endomysial connective tissue, Centrall... OMIM:620246
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Weakness of facial mu... OMIM:619566
Amyotrophic Lateral Sclerosis 4, Juvenile
Clonus, Distal amyotrophy, Atrophy of the spinal cord, Abnormal lower motor neuron morphology, Am... OMIM:602433
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Muscle fiber splitting, Myopathy, Fatty replacement of skeletal muscle, Scap... OMIM:618129
Oculocutaneous Albinism Type 3
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... ORPHA:79433
Congenital Muscular Dystrophy, Ullrich Type
Frequent falls, Torticollis, Knee flexion contracture, Generalized hypotonia, EMG: myopathic abno... ORPHA:75840
Combined Oxidative Phosphorylation Deficiency 49
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex II, D... OMIM:619024
Juvenile Amyotrophic Lateral Sclerosis
Upper limb spasticity, Dystonia, Ataxia, Head titubation, Amyotrophic lateral sclerosis, Chorea, ... ORPHA:300605
Myopathy, Scapulohumeroperoneal
Wrist drop, Skeletal muscle atrophy, Nemaline bodies, Scapular winging, Achilles tendon contractu... OMIM:616852
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Polyglucosan Body Neuropathy, Adult Form
Tetraparesis, Distal sensory impairment, Paresthesia, Abnormal upper motor neuron morphology, Spa... OMIM:263570
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract OMIM:619602
Childhood-Onset Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Myopathy, Clumsiness, Type 1 muscle fiber pr... ORPHA:171439
Amyotrophic Lateral Sclerosis 18
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations OMIM:614808
Myoclonus, Intractable, Neonatal
Hypotonia, Athetosis, Chorea, Myoclonus, Increased variability in muscle fiber diameter OMIM:617235
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variabili... OMIM:300717
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Myopathy With Lactic Acidosis, Hereditary
Frequent falls, Rhabdomyolysis, Myopathy, Hypotonia, Decreased activity of mitochondrial complex ... OMIM:255125
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities... OMIM:253601
Aicardi-Goutieres Syndrome 1
Spasticity, Morphological abnormality of the pyramidal tract, Abnormality of extrapyramidal motor... OMIM:225750
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Triceps weakness, Muscu... ORPHA:86812
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:256710
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal ey... ORPHA:2885
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Spasticity, Tetraparesis, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:617892
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Hypotonia, Gait ataxia, Ataxia, Increased variability in muscle fiber diameter OMIM:617915
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Spasticity, Abnormal pyramidal sign, Morphological abnormality of the pyramidal tract, Ataxia, He... OMIM:612199
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Fatty replacement of s... OMIM:608807
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism ORPHA:2786
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Myopathy, Generalized neonatal hypotonia, Facial palsy, Type 1 fibers ... OMIM:300580
Combined Oxidative Phosphorylation Deficiency 8
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I, In... OMIM:614096
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Hypotonia, Muscular dystrophy, Increased endomysial connective tissue, Centrally nucleated skelet... OMIM:617066
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, White forelock, Patchy hypo- and hyperpigmentation OMIM:601706
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal muscle atr... OMIM:253700
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Hypotonia, Decreased activity of the pyruvate dehydrogenase complex, Corticospinal tract ... ORPHA:255138
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:612937
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle autophagosome accumu... OMIM:619518
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Myopathy, Muscular dystrophy, Scapular winging, Centrally nucleated skeletal... OMIM:612999
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Frequent falls, Macroglossia, EMG: myopathic abnormalities, Right ventricular hypertrophy, Achill... ORPHA:353
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies OMIM:615426
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Rhabdomyolysis, Parkinsonism, Hand tremor, Impaired distal vibration sensation, Parkinsonism with... OMIM:157640
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Spasticity, Increased variability in muscle fiber diameter, Ataxia, Myopathy OMIM:125250
Congenital Multicore Myopathy With External Ophthalmoplegia
Frog-leg posture, Tibialis anterior muscle atrophy, Shoulder girdle muscle weakness, Facial diple... ORPHA:98905
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Congenital Myopathy 15
Camptodactyly, Hypotonia, Type 1 muscle fiber predominance, Weakness of facial musculature, Fatty... OMIM:620161
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Distal amyotrophy, Abnormal lower moto... OMIM:614298
Congenital Myopathy 1B, Autosomal Recessive
Minicore myopathy, Hypotonia, Muscular dystrophy, Skeletal muscle atrophy, Nemaline bodies, Neona... OMIM:255320
Spastic Paraplegia 13, Autosomal Dominant
Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Spastic paraplegia, ... OMIM:605280
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:277580
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Hypotonia, Weakness of facial musculature, Generalized hypotonia, Flexion contracture of finger, ... OMIM:618484
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Amyotrophic lateral sclerosis, Paralysis, Athetosis OMIM:300857
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypotonia, Hypertonia, Increased variability in muscle fiber diam... OMIM:617228
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Hypoesthesia, Sensory ataxia, Impaired distal tactile sensation, Dysmetria, Ataxia, Myopathy, Fib... OMIM:607459
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy, Amyotrophic lateral sclerosis, Fasciculations OMIM:608030
Hydrocephalus, Congenital, X-Linked
Spasticity, Corticospinal tract hypoplasia, Spastic paraplegia, Agenesis of corpus callosum OMIM:307000
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Congenital Myopathy 3 With Rigid Spine
Minicore myopathy, Hypotonia, Type 1 muscle fiber predominance, Generalized hypotonia, Muscular d... OMIM:602771
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Synophrys, Premature graying of hair, Abnormality of retinal pigment... ORPHA:897
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Apraxia, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign OMIM:221770
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle weakness, Muscle fiber splitting, Distal lower limb muscle weakness, Hand ... ORPHA:437572
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Hypotonia, Infantile, With Psychomotor Retardation
Neonatal hypotonia, Severe muscular hypotonia, Increased variability in muscle fiber diameter, My... OMIM:616816
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Spasticity, Ataxia, Hypotonia, Abnormal mitochondrial shape, Gait ataxia, Axial hypotonia, Hypert... ORPHA:543470
Dystonia-Aphonia Syndrome
Macroglossia, Generalized dystonia, Abnormal mitochondrial shape, Oromandibular dystonia, Myoclonus ORPHA:412217
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Myopathy, Weakness of facial musculature, Generalized amyotrophy, Ragged-red muscle fibers, Decre... ORPHA:352447
Adrenomyeloneuropathy
Spasticity, Spastic gait, Distal sensory impairment, Dorsal column degeneration, Leg muscle stiff... ORPHA:139399
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Babinski sign, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612069
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Rhabdomyolysis, Hyperkinetic movements, Infantile muscular hypotonia, Decreased activity of mitoc... ORPHA:17
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Necklace skeletal muscle fibers, Neonatal hypotonia, Centrally nu... ORPHA:596
Piebald Trait
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... OMIM:172800
Mitochondrial Phosphate Carrier Deficiency
Hypotonia, Abnormal mitochondrial shape OMIM:610773
Autosomal Dominant Spastic Paraplegia Type 13
Abnormal pyramidal sign, Lower limb muscle weakness, Impaired vibration sensation in the lower li... ORPHA:100994
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Internally nucl... OMIM:618138
Piebaldism
Piebaldism, Synophrys, Hypopigmented skin patches, White eyelashes, Hypopigmentation of hair, Whi... ORPHA:2884
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Muscular... OMIM:617072
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Spinal muscular atrophy, Generalized hypotonia, Skeletal muscle atrophy, Inc... OMIM:616867
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Increased endomysial connective tissue, Increase... OMIM:613157
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Albinism, White hair, Abnormality of retinal pigmentation, Hypopigmentatio... ORPHA:79435
Combined Oxidative Phosphorylation Deficiency 19
Neonatal hypotonia, Hypotonia, Mitochondrial swelling, Increased variability in muscle fiber diam... OMIM:615595
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Hypotonia, Weakness of facial musculature, Knee flexion contracture, Neona... ORPHA:536516
Ullrich Congenital Muscular Dystrophy 2
Neonatal hypotonia, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle ... OMIM:616470
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Nemaline bodies, Achilles tendon contracture, Shoulder flexion contractu... OMIM:617114
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal eyebrow morphology, P... ORPHA:3437
Obesity And Hypopigmentation
Red hair OMIM:620195
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gait ataxia, Impaired vibratory sensation, Positive Romberg sign, Impaired distal proprioception,... ORPHA:70595
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy ORPHA:270
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Generalized hypotonia, EMG: myopathic abnormalities, Centrally nucleated skele... ORPHA:486815
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Type 1 muscle fiber predominance, Neonatal hypotonia, Fa... OMIM:254090
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Synophrys, Premature graying of hair, Abnormal hair morphology, Thick... ORPHA:894
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Skeletal muscle atrophy, Proximal amyotrophy, Increased variability in muscle... OMIM:614302
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Rhabdomyolysis, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Increased endom... OMIM:620138
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Flexion contracture, Spastic paraplegia, Increased variability in muscle fiber diameter, Axial dy... OMIM:619026
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Weakness due to upper motor neuron dysfunctio... ORPHA:79139
Optic Atrophy 11
Hyperkinetic movements, Ataxia, Facial diplegia, Fiber type grouping, Hypotonia, Gait apraxia, At... OMIM:617302
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Pauci... OMIM:253310
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Oculocutaneous Albinism
Iris hypopigmentation, Generalized hypopigmentation, Generalized hypopigmentation of hair, White ... ORPHA:55
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Shoulder girdle muscle weakness, Decreased muscle mass, EMG: myopathic abnormalities, Upper limb ... ORPHA:263297
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Myopathy, Mitochondrial, And Ataxia
Distal sensory impairment, Limb ataxia, Ataxia, Distal amyotrophy, Generalized hypotonia, Dysdiad... OMIM:617675
Congenital Myopathy 4A, Autosomal Dominant
Neonatal hypotonia, Facial palsy, Centrally nucleated skeletal muscle fibers, Limb joint contract... OMIM:255310
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypotonia, Increased variability in muscle fiber diameter OMIM:613752
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Spasticity, Hypotonia, Type 1 muscle fiber predominance, Right ventricular hypertrophy, Myoclonus... OMIM:612949
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the pyramidal tract, Hypotonia, Generalized hypotonia, Skeletal muscle atrophy, Exa... OMIM:253800
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Limb dystonia, Myopathy, Hypotonia, Decreased activity of mitochondrial complex IV, Increased var... OMIM:604377
Cap Myopathy
Frequent falls, Lower limb amyotrophy, Lower limb muscle weakness, Generalized hypotonia, Abnorma... ORPHA:171881
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Spasticity, Abnormal mitochondrial shape, Infantile axial hypotonia ORPHA:485421
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Progressive cerebellar ataxia, Weakness of facial musculature, Gener... ORPHA:502423
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:614072
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Muscle f... OMIM:616812
Oxoglutaric Aciduria
Hypertonia, Abnormality of Krebs cycle metabolism, Ataxia, Skeletal muscle atrophy ORPHA:31
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the calf musculature, Distal sensory impairment, Shoulder girdle muscle weakness, ... ORPHA:600
Oculocutaneous Albinism Type 2
Blue irides, Freckling, Iris hypopigmentation, Iris transillumination defect, White eyebrow, Whit... ORPHA:79432
Friedreich Ataxia
Limb ataxia, Ataxia, Mitochondrial malic enzyme reduced, Impaired proprioception, Gait ataxia, De... OMIM:229300
Barth Syndrome
Skeletal myopathy, Abnormal mitochondrial morphology OMIM:302060
Typical Nemaline Myopathy
Facial diplegia, Myopathy, Type 1 muscle fiber predominance, Nemaline bodies, Neonatal hypotonia,... ORPHA:171436
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Amyotrophic lateral sclerosis, Fasciculations OMIM:613435
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Motor neuron atrophy, Abnormal neuron morphology, Spinocerebellar tract degeneratio... ORPHA:412066
Acquired Hypertrichosis Lanuginosa
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology ORPHA:2221
Oculocutaneous Albinism Type 1
Blue irides, Iris hypopigmentation, Generalized hypopigmentation, Iris transillumination defect, ... ORPHA:352731
Oculocutaneous Albinism Type 1B
Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Generalized hypotonia, Muscle fiber ... OMIM:616866
Leukodystrophy, Hypomyelinating, 4
Progressive spasticity, Hypotonia, Head titubation, Spastic paraplegia, Flexion contracture, Babi... OMIM:612233
Idiopathic Camptocormia
Syringomyelia, Parkinsonism, Abnormal muscle fiber dysferlin, Amyotrophic lateral sclerosis, EMG:... ORPHA:1320
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:411515
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Axial hypotonia, Type 2 muscle fiber predominance, Generalized hypotonia, Increased variability i... OMIM:619173
Amyotrophic Lateral Sclerosis
Spasticity, Motor neuron atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis ORPHA:803
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Pelvic girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:119
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Hypopigmentation ... ORPHA:999
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Babinski sign, Parkinsonism, Amyotrophic lateral sclerosis, Ataxia OMIM:615911
Oculocutaneous Albinism Type 1A
Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin, Hypopigmentation of hai... ORPHA:79431
Albinism, Oculocutaneous, Type Ia
Blue irides, Albinism, White hair, Hypopigmentation of hair, Ocular albinism, Absent skin pigment... OMIM:203100
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79477
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fiber diameter OMIM:619334
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Fumarase Deficiency
Hypotonia, Generalized hypotonia, Mitochondrial swelling, Decreased fumarate hydratase activity, ... OMIM:606812
Smith-Magenis Syndrome
Impaired pain sensation, Hypotonia, Corticospinal tract hypoplasia ORPHA:819
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Hypotonia, Weakness of facial musculature, Knee flexion contracture, Ankle flexion contracture, I... OMIM:619461
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Ataxia-Telangiectasia
Multiple cafe-au-lait spots, Hypopigmentation of hair, Premature graying of hair ORPHA:100
Carney Complex, Type 1
Multiple lentigines, Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions OMIM:160980
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmented skin patches, Premature graying of hair, Synophrys, He... ORPHA:3440
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Clonus, Generalized hypotonia, Tremor, Facial palsy, Type 1 fibers relatively smaller than type 2... OMIM:619424
Waardenburg Syndrome, Type 4C
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613266
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Calf muscle pseudohypertrophy, Skeletal muscle hypertr... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myopathy ORPHA:2348
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Fair hair OMIM:614613
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Ataxia, Distal amyotrophy, EMG: myopathic abnormalities, Tremor, Facial pals... OMIM:164310
Frontotemporal Dementia
Parkinsonism, Amyotrophic lateral sclerosis OMIM:600274
Hermansky-Pudlak Syndrome 1
Freckling, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentatio... OMIM:203300
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Freckling, Iris hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait spots, Hypopi... ORPHA:3214
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Hypopigmentation of hair, Cafe-au-lait spot OMIM:618541
Muenke Syndrome
Hypermelanotic macule, Hypopigmentation of hair, Hypopigmented skin patches ORPHA:53271
Myasthenic Syndrome, Congenital, 19
Hypotonia, Generalized hypotonia, Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Muscular dystrophy, Skeletal muscle hypertrophy, Congenital contracture, Increased ... OMIM:613150
Creatine Phosphokinase, Elevated Serum
Myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Inf... OMIM:123320
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Native American Myopathy
Camptodactyly, Hypotonia, Muscle fiber atrophy, Skeletal muscle atrophy, Congenital contracture, ... ORPHA:168572
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Generalized hypopigmentation of hair, Generalized hype... ORPHA:3322
Progressive Non-Fluent Aphasia
Parkinsonism, Abnormal lower motor neuron morphology, Abnormality of extrapyramidal motor functio... ORPHA:100070
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypotonia, Generalized hypotonia, Muscular dystrophy, Increased variability in muscle fiber diameter OMIM:616538
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98795
Lethal Congenital Contracture Syndrome 9
Flexion contracture, Abnormality of the diaphragm, Myopathy, Elbow extension contracture, Muscle ... OMIM:616503
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Irregular hyperpigmentation, Trichorrhexis nodosa, Abnormality of the nai... ORPHA:238468
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Skeletal muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Incr... OMIM:613327
Lethal Congenital Contracture Syndrome 10
Macroglossia, Torticollis, Increased variability in muscle fiber diameter OMIM:617022
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:411511
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619133
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Glycogen Storage Disease Xii
Hypotonia, Muscle fiber splitting, Increased variability in muscle fiber diameter, Myopathy OMIM:611881
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Ane Syndrome
Generalized amyotrophy, Multiple joint contractures, Motor neuron atrophy ORPHA:157954
Williams Syndrome
Spasticity, Macroglossia, Ataxia, Myopathy, Hypotonia, Abnormality of extrapyramidal motor functi... ORPHA:904
Chediak-Higashi Syndrome
Iris hypopigmentation, Giant melanosomes in melanocytes, Hypopigmentation of the skin, Hypopigmen... OMIM:214500
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98794
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Hermansky-Pudlak Syndrome
Long eyelashes, Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Pa... ORPHA:79430
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Cafe-au-lait s... ORPHA:84064
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Abnormal eyebrow morphology, Premature graying of hair, Hypopigmentat... ORPHA:163746
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Prader-Willi Syndrome
Iris hypopigmentation, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentati... OMIM:176270
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair ORPHA:1974
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398079
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Iris hypopigmentation, Ocular albinism ORPHA:2719
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Stellate iris, Hypopigmentation of the skin, Hypopigmentation of hair, Hyp... ORPHA:177907
Chédiak-Higashi Syndrome
Iris hypopigmentation, Spotty hyperpigmentation, Large clumps of pigment irregularly distributed ... ORPHA:167
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177901
Vici Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Ocular albinism, Albinism OMIM:242840
Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:398073
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:739
Degcags Syndrome
Long eyelashes, Abnormal eyelash morphology, Abnormal eyebrow morphology, Synophrys, Premature gr... OMIM:619488
Menkes Disease
Sparse hair, Hypopigmentation of hair, Woolly hair ORPHA:565
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Blue irides, Red hair, Fair hair ORPHA:280651
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Abnormal eyelash morphology ORPHA:818
Cystinosis, Nephropathic
Hypopigmentation of hair, Hypopigmentation of the skin, Pigmentary retinopathy, Retinal pigment e... OMIM:219800

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 Hspd1

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 Hspd1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Heat shock protein 60 regulates yolk sac erythropoiesis in mice. Cell death & disease (October 2019) Hspd1tm1c(EUCOMM)Hmgu PMC6786998
Deletion of heat shock protein 60 in adult mouse cardiomyocytes perturbs mitochondrial protein homeostasis and causes heart failure. Cell death and differentiation (June 2019) Hspd1tm1c(EUCOMM)Hmgu Hspd1tm1a(EUCOMM)Hmgu 31209364

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Hspd1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Hspd1em1(IMPC)J Exon Deletion Mice
Hspd1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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