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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
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 coat/hair pigmentation Hspd1em1(IMPC)J HET Early adult 4.20×10-12
abnormal vocalization Hspd1em1(IMPC)J HET Early adult 2.94×10-10

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Viewing: all phenotypes

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 spasticity, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low... OMIM:605280
Autosomal Dominant Spastic Paraplegia Type 13
Lower limb spasticity, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Impaired vibra... ORPHA:100994
Leukodystrophy, Hypomyelinating, 4
Head titubation, Babinski sign, Flexion contracture, Spastic paraplegia, Hypotonia, Choreoathetos... 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
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Spastic Paraplegia 2, X-Linked
Skeletal muscle atrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tracts,... OMIM:312920
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... ORPHA:171863
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb spasticity, Clonus, Peroneal muscle atrophy, Degeneration of the lateral corticospinal... ORPHA:100989
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Abnor... ORPHA:247604
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... OMIM:611637
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Abnormal pyramidal sign, Imp... ORPHA:95434
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... ORPHA:100999
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Dysesthesia, Abnormal pyramidal tract morphology, Gait ataxia, Abnormality of ex... ORPHA:356
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Vocal cord par... OMIM:607641
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Mitochondrial ... OMIM:500013
Spastic Paraplegia 8, Autosomal Dominant
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Spastic p... OMIM:603563
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Autosomal Dominant Spastic Paraplegia Type 37
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:171612
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Spastic Paraplegia 3, Autosomal Dominant
Distal lower limb amyotrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tr... OMIM:182600
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... ORPHA:457050
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Decreased activity of mitochondrial complex IV, Spastic diplegia, Myoclonu... OMIM:619065
Spastic Paraplegia Type 7
Somatic sensory dysfunction, Ragged-red muscle fibers, Abnormal pyramidal sign, Babinski sign, Ab... ORPHA:99013
Autosomal Dominant Spastic Paraplegia Type 38
Lower limb spasticity, Peroneal muscle atrophy, Thenar muscle atrophy, Degeneration of the latera... ORPHA:171617
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Impaired temperature sensation, Impaired pain sensation, Impaired p... DECIPHER:29
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb amyotrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tr... ORPHA:444099
Mitochondrial Myopathy With Diabetes
Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Hypotonia, P... OMIM:500002
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... OMIM:105400
Adult Krabbe Disease
Acroparesthesia, Somatic sensory dysfunction, Ataxia, Progressive spastic paraparesis, Hoffmann s... ORPHA:206448
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb spasticity, Hand muscle weakness, Degeneration of the lateral corticospinal tracts, Sp... ORPHA:320355
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... OMIM:205100
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... OMIM:613954
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic dysarthria, Pseudobulbar pa... OMIM:606353
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Thenar muscle atrophy, Degeneration of th... OMIM:604360
Spastic Paraplegia 4, Autosomal Dominant
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Spastic p... OMIM:182601
Sandhoff Disease, Adult Form
Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d... ORPHA:309169
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... ORPHA:100993
Spastic Paraplegia 7, Autosomal Recessive
Spastic ataxia, Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski... OMIM:607259
Hsd10 Mitochondrial Disease
Hypotonia, Spastic tetraplegia, Abnormal mitochondrial morphology, Choreoathetosis, Generalized h... OMIM:300438
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Familial Congenital Mirror Movements
Cerebral palsy, Clumsiness, Poor fine motor coordination, Abnormal corticospinal tract morphology... ORPHA:238722
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Somatic sensory dysfunction, Ragged-red muscle fibers, Lower limb a... OMIM:616924
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Axial hypotonia, Ataxia, Ragged-red muscle fibers, Decreased activity of mitochondrial complex II... OMIM:615159
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Ataxia, Corticospinal tract atrophy OMIM:551500
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Impaired distal vibrat... ORPHA:276435
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Spinocerebellar Ataxia 28
Somatic sensory dysfunction, Parkinsonism, Babinski sign, Ragged-red muscle fibers, Limb ataxia, ... OMIM:610246
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... OMIM:602099
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Hypotonia, Increased ... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Narp Syndrome
Ataxia, Babinski sign, Progressive gait ataxia, Corticospinal tract atrophy, Myoclonic spasms, Ab... ORPHA:644
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... OMIM:253400
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Boucher-Neuhauser Syndrome
Ataxia, Gait ataxia, Distal amyotrophy, Abnormal upper motor neuron morphology, Spasticity, Inten... OMIM:215470
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... OMIM:619473
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... OMIM:607225
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath... ORPHA:352470
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Generalized hypotonia, Incr... OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Abnormal pyramidal tract morphology, Babinski sign, Spastic paraplegia ORPHA:83629
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Increased mitochondrial number, Tremor, Hypotonia, Dysmetria, Decreased ... OMIM:615578
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, H... OMIM:617760
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Decreased activity of mitochondrial complex IV, Increased mitochondrial number, Bab... OMIM:619063
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... ORPHA:401768
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Mitochondrial depletion, Frequent falls, ... OMIM:256030
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n... OMIM:611890
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Myopathy, Increased variabili... ORPHA:397744
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Hypotonia, Knee flexion contracture, ... OMIM:616313
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Bethlem Myopathy 2
Scapular winging, Flexion contracture, Hypotonia, Myopathy, Generalized hypotonia, Increased vari... OMIM:616471
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Ragged-red muscle fibers, Myopathy, Decreased activity of mitochondrial co... OMIM:618242
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... OMIM:606070
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Severe muscular hypotonia, Involuntary movements, Tongue fasciculations,... ORPHA:238329
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Upper motor ... OMIM:612577
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Dist... OMIM:611067
Amyotrophic Lateral Sclerosis 16, Juvenile
Lower limb spasticity, Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the... OMIM:614373
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Babinski sign, Hoffmann sign... OMIM:601162
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... OMIM:619790
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:105550
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Tremor, Flexion contracture, Clumsiness, Eyelid myoclonus... ORPHA:2590
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, M... OMIM:258450
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell... OMIM:253550
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Abnormal motor neuron morpho... ORPHA:52430
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk... ORPHA:171442
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, Fa... ORPHA:276244
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Increased variability in muscle fiber diameter, Frequent falls, Muscle fiber... OMIM:300718
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased variability in muscle f... OMIM:614399
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Mitochondrial hypertrophy, Myopathy, Muscular dystrophy, Generalized hypotonia, Inc... OMIM:602541
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... OMIM:616437
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Hypotonia, Increased variability in muscle fiber diameter, Generalized hypotonia... OMIM:620265
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity OMIM:611895
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Hypotonia, Incr... OMIM:620246
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Pallor of dorsal columns of the spinal cord, Amyotrophic ... OMIM:602433
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract OMIM:619602
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... ORPHA:300605
Combined Oxidative Phosphorylation Deficiency 49
Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m... OMIM:619024
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Frequent falls, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion... ORPHA:75840
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Distal sensory impairment, Paresthesia, Tetraparesis, Abnormal upper motor ne... OMIM:263570
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Spasticity, Amyotrophic lateral sclerosis, Fasciculations OMIM:614808
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Hypotonia, Corticospinal tract hypoplasia, Agenesis of corpus callosum, Decreased activit... ORPHA:255138
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300717
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Abnormal iron deposition in mitochondria, Rhabdomyolysis, Decreased acti... OMIM:255125
Myoclonus, Intractable, Neonatal
Chorea, Hypotonia, Athetosis, Myoclonus, Increased variability in muscle fiber diameter OMIM:617235
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Neonatal hypotonia, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myop... ORPHA:86812
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Spasticity, Amyotrophic lateral sclerosis, Tetraparesis OMIM:617892
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Cryptorchidism, Flexion contracture, Increased variab... OMIM:618484
Hypotonia, Infantile, With Psychomotor Retardation
Severe muscular hypotonia, Cryptorchidism, Myopathy, Neonatal hypotonia, Increased variability in... OMIM:616816
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Ataxia, Hypotonia, Gait ataxia OMIM:617915
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Impaired distal propriocepti... OMIM:157640
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Spasticity, Spastic paraplegia, Agenesis of corpus callosum OMIM:307000
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Generalized neonatal... OMIM:300580
Combined Oxidative Phosphorylation Deficiency 8
Decreased activity of mitochondrial complex I, Increased variability in muscle fiber diameter, De... OMIM:614096
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Hypotonia, Muscular dystroph... OMIM:617066
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally... OMIM:619518
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Oculogyric crisis, Tremor, Abnormality of the mitochondrion, Dystonia ORPHA:330050
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... OMIM:253700
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Frequent falls, Achilles tendon contracture, Upp... ORPHA:353
Adrenomyeloneuropathy
Atrophy/Degeneration involving the corticospinal tracts, Dysesthesia, Atrophy of the spinal cord,... ORPHA:139399
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Spasticity, Ataxia, Increased variability in muscle fiber diameter OMIM:125250
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber... OMIM:620161
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Scapular winging, Generalized dystonia, Ataxia, Parkinson... OMIM:614298
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Spastic Paraplegia 13, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low... OMIM:605280
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Paralysis, Dystonia OMIM:300857
Congenital Myopathy 10B, Mild Variant
Axial hypotonia, Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contrac... OMIM:620249
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fasciculations, Proximal amyotrophy OMIM:608030
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,... OMIM:608627
Dystonia-Aphonia Syndrome
Generalized dystonia, Abnormal mitochondrial shape, Macroglossia, Myoclonus, Oromandibular dystonia ORPHA:412217
Combined Oxidative Phosphorylation Deficiency 31
Hypotonia, Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid droplets,... OMIM:617228
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness, Fasciculations OMIM:619141
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Myoclonus, Apraxia, Abnormal upper motor neuron morphology, Spasticity OMIM:221770
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Axial hypotonia, Ataxia, Abnormal mitochondrial shape, Hypotonia, Gait ataxia, Hypertonia, Spasti... ORPHA:543470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakn... ORPHA:352447
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Spasticity, Babinski sign, Amyotrophic lateral sclerosis OMIM:612069
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Dystonia, Abnormal mitochondrial shape, Ragged-red muscle fibers, Flexio... ORPHA:17
X-Linked Centronuclear Myopathy
Severe muscular hypotonia, Weakness of facial musculature, Centrally nucleated skeletal muscle fi... ORPHA:596
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Limb mus... ORPHA:486815
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Hypotonia OMIM:610773
Autosomal Dominant Spastic Paraplegia Type 13
Lower limb spasticity, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Impaired vibra... ORPHA:100994
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... OMIM:618138
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Severe muscular hypotonia, Spinal muscular atrophy, Flexion contracture,... OMIM:616867
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Combined Oxidative Phosphorylation Deficiency 19
Neonatal hypotonia, Increased variability in muscle fiber diameter, Mitochondrial swelling, Hypot... OMIM:615595
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Obesity And Hypopigmentation
Red hair OMIM:620195
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Flexion contracture, Neonatal hypotonia, Increased variability in muscle fiber diam... OMIM:616470
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Gait atax... ORPHA:70595
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Hypotonia, Abnormality of the mitochondrion ORPHA:91130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Exaggerated startle response, Hypoplasia of the pyramidal tract, Flexion... OMIM:253800
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... OMIM:254090
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:620351
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Weakness due to uppe... ORPHA:79139
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, Increased variability in muscle fiber diameter, Flexion contracture, Spastic para... OMIM:619026
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... OMIM:253310
Optic Atrophy 11
Ataxia, Gait apraxia, Hypotonia, Dysmetria, Facial diplegia, Athetosis, Hyperkinetic movements, I... OMIM:617302
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Decreased muscle glycogen content, Increased mitochondrial number, Upper l... ORPHA:263297
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Dysmetria, Limb ataxia, Distal sensory impairment, Distal amyotrophy, Dysdiadocho... OMIM:617675
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... OMIM:255310
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Hypotonia OMIM:613752
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Axial hypotonia, Severe muscular hypotonia, Hypotonia, Myoclonus, Type 1 muscle fiber predominanc... OMIM:612949
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Infantile axial hypotonia, Spasticity, Abnormal mitochondrial shape ORPHA:485421
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, Ge... ORPHA:171881
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Decreased activity of mitochondrial complex IV, Hypotonia, Myopathy, Limb dystonia, Increased var... OMIM:604377
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Tremor, Increased variability in muscle fiber diameter, Dysmetria, I... ORPHA:502423
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy, Hypertonia, Ataxia ORPHA:31
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Distal sensory impa... ORPHA:600
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Friedreich Ataxia
Impaired vibratory sensation, Ataxia, Babinski sign, Impaired proprioception, Decreased pyruvate ... OMIM:229300
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Motor neuron atrophy, Bradykinesia, Spinocerebellar tract degeneration, Abnormal ne... ORPHA:412066
Barth Syndrome
Skeletal myopathy, Abnormal mitochondrial morphology OMIM:302060
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations OMIM:613435
Typical Nemaline Myopathy
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... ORPHA:171436
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... OMIM:620278
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Severe muscular hypotonia, Spinal muscular atrophy, Flexion contracture, Increased variability in... OMIM:616866
Leukodystrophy, Hypomyelinating, 4
Head titubation, Babinski sign, Flexion contracture, Spastic paraplegia, Hypotonia, Choreoathetos... OMIM:612233
Smith-Magenis Syndrome
Corticospinal tract hypoplasia, Hypotonia, Impaired pain sensation ORPHA:819
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Spasticity ORPHA:803
Idiopathic Camptocormia
Myositis, Amyotrophic lateral sclerosis, Parkinsonism, Fatty replacement of skeletal muscle, Abno... ORPHA:1320
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Axial hypotonia... OMIM:619173
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Babinski sign, Ataxia, Parkinsonism OMIM:615911
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Fumarase Deficiency
Decreased fumarate hydratase activity, Hypotonia, Generalized hypotonia, Mitochondrial swelling, ... OMIM:606812
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:619334
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormality of the dorsal column of the spinal cord, Incoordination... OMIM:601992
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots ORPHA:100
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Abnormalit... ORPHA:254892
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Clonus, Tremor, Type 1 fibers relatively smaller than type 2 fibers, Generalized hy... OMIM:619424
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Parkinsonism OMIM:600274
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Distal amyotrophy, Increased variability in mu... OMIM:164310
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Native American Myopathy
Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Hypotonia, Co... ORPHA:168572
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Hypotonia, Facial palsy, Generalized hypotonia OMIM:616720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Severe muscular hypotonia, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Mus... OMIM:613150
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Abnormality of extrapyramidal motor function, Parkinsonis... ORPHA:100070
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
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
Increased variability in muscle fiber diameter, Hypotonia, Muscular dystrophy, Generalized hypotonia OMIM:616538
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus... OMIM:613327
Williams Syndrome
Ataxia, Involuntary movements, Atrophy/Degeneration involving the corticospinal tracts, Tremor, C... ORPHA:904
Lethal Congenital Contracture Syndrome 10
Macroglossia, Increased variability in muscle fiber diameter, Torticollis OMIM:617022
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, 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
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Hypotonia, Muscle fiber splitting OMIM:611881
Ane Syndrome
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy ORPHA:157954
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... ORPHA:79430
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr... ORPHA:84064
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... 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
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... OMIM:176270
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation ORPHA:2719
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... ORPHA:177907
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177901
Vici Syndrome
Hypopigmentation of hair, Ocular albinism, Hypopigmentation of the skin, Albinism OMIM:242840
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo... OMIM:619488
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair ORPHA:565
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair ORPHA:818
Cystinosis, Nephropathic
Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm... 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
Hspd1em1(IMPC)J Exon Deletion Mice
Hspd1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Hspd1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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