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Gene: Gas7 MGI:1202388

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Gene Summary

Name:
growth arrest specific 7
Synonyms:
Gas7-cb,  B230343A10Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral content Gas7em1(IMPC)J HOM Early adult 1.21×10-05
decreased bone mineral density Gas7em1(IMPC)J HOM Early adult 1.39×10-05
decreased mean corpuscular hemoglobin concentration Gas7em1(IMPC)J HOM Early adult 1.09×10-05
increased total body fat amount Gas7em1(IMPC)J HOM Early adult 2.70×10-05
increased mean corpuscular volume Gas7em1(IMPC)J HOM Early adult 5.78×10-07
decreased grip strength Gas7em1(IMPC)J HOM Early adult 3.41×10-06

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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.

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Forepaw

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X-ray

XRay Images Skull Lateral Orientation

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Auditory Brain Stem Response

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

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Human diseases caused by Gas7 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Gas7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle... ORPHA:178400
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... OMIM:616852
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... OMIM:609452
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... ORPHA:399096
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... ORPHA:399103
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... OMIM:618655
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Distal muscle weakness, Hand muscle ... OMIM:607641
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Talipes cavus equin... ORPHA:59135
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... ORPHA:98912
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... OMIM:616199
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... ORPHA:98902
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Proximal amyotrophy, ... OMIM:605355
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog... OMIM:611588
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal muscle w... OMIM:608627
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... ORPHA:178464
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ... OMIM:620249
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal... OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ... OMIM:254110
Distal Myotilinopathy
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... ORPHA:98911
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor... ORPHA:641
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Impaired vibratory sensation, Achilles tendon contracture, Progress... ORPHA:2596
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia ORPHA:46532
Oculopharyngodistal Myopathy 2
Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople... OMIM:618940
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness... OMIM:620285
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re... ORPHA:266
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:620286
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Proximal ... OMIM:167320
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal muscle weakness, Distal amyotrophy, Type 1 muscle fiber predominance, Inc... 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
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen... DECIPHER:29
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Progressive external ophth... ORPHA:98897
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Nonaka Myopathy
Distal muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle... OMIM:605820
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m... ORPHA:611
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Flexion contractu... ORPHA:98896
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak... OMIM:620386
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Distal muscle weakness, Spinal muscular atrophy, Proximal... OMIM:611067
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Desminopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Progressive muscle weakne... ORPHA:98909
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase... OMIM:613204
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Prog... ORPHA:169186
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, T... OMIM:181400
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr... OMIM:620138
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl... OMIM:615424
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... ORPHA:2593
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... OMIM:618654
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... OMIM:617030
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Somatic sensory dysfunction, Proximal muscle weakness, Ragged-red m... OMIM:616924
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Centra... OMIM:619733
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short metacarpal, Ataxia, Centrally nucleated skeletal muscle fibers, Co... OMIM:248800
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl... OMIM:300717
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... ORPHA:488650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... OMIM:608099
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscl... OMIM:606070
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... OMIM:605637
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... OMIM:608807
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s... OMIM:617760
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... OMIM:620068
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... OMIM:117000
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... OMIM:616313
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn... OMIM:619477
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... ORPHA:663
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat... OMIM:618129
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Congenital Myopathy 14
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... OMIM:618414
Rhabdomyolysis, Susceptibility To, 1
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle... OMIM:620235
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... ORPHA:34516
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Inclusion Body Myositis
Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles OMIM:147421
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Z-band streami... OMIM:619178
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Arts Syndrome
Progressive muscle weakness, Optic atrophy, Ataxia, Spinal cord posterior columns myelin loss OMIM:301835
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Proximal muscle weakness, Gowers sign, Myopathy, Limb-girdle muscular dystrophy, Increased variab... OMIM:612937
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu... OMIM:611615
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... OMIM:603689
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Distal muscle weakne... ORPHA:254875
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:613954
Bethlem Myopathy 2
Scapular winging, Proximal muscle weakness, Flexion contracture, Myopathy, Increased variability ... OMIM:616471
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor... OMIM:157640
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Myopathy, Distal, Tateyama Type
Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic... OMIM:614321
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg... OMIM:609286
Zebra Body Myopathy
Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness,... ORPHA:97240
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac... OMIM:300696
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy, Muscle weakness ORPHA:247604
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Ophthalmoplegia, Increased variability in mu... OMIM:619473
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Increased variability in m... OMIM:253601
Oslam Syndrome
Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Myopathy, Tubular Aggregate, 1
Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro... OMIM:160565
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Gowers... OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... OMIM:618138
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Progressive muscle weakness, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Central... OMIM:619518
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Ataxia, Proximal muscle weakness, Progressive muscle wea... OMIM:620166
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Nemaline Myopathy 2
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... OMIM:256030
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia... OMIM:620246
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ... OMIM:300718
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Myasthenic Syndrome, Congenital, 12
Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph... OMIM:610542
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness OMIM:205250
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ... OMIM:612999
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... OMIM:608423
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc... OMIM:601846
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ... OMIM:614302
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B... OMIM:616437
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Impaired proprioception, Lim... ORPHA:95434
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet... OMIM:608358
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Soma... OMIM:612577
Adult-Onset Nemaline Myopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr... ORPHA:171442
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ... OMIM:620265
Congenital Myopathy 10A, Severe Variant
Poor head control, Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocit... OMIM:614399
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr... ORPHA:75840
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal muscle weakness, Distal amyotrophy OMIM:611895
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Majeed Syndrome
Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl... OMIM:609628
Infantile Refsum Disease
Progressive muscle weakness, Optic atrophy, Ataxia, Facial palsy ORPHA:772
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc... OMIM:613157
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... OMIM:617072
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy... OMIM:608340
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:617066
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Gowers sign, Progressive muscle weakness, Ragged-red muscle fibers, Generalized... OMIM:600462
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Tracheomalacia OMIM:612561
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... OMIM:620310
Oculopharyngodistal Myopathy 4
Distal muscle weakness, Autophagic vacuoles, Fatty replacement of skeletal muscle, External ophth... OMIM:619790
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle muscle weakness... ORPHA:86812
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... OMIM:255320
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, Type 1 fibers relativel... OMIM:300580
Congenital Myopathy 3 With Rigid Spine
Poor head control, Neck flexor weakness, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:602771
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the intrinsic hand muscles OMIM:614373
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ... OMIM:253700
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal muscle weakness, Re... OMIM:602099
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness OMIM:619141
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Chorea, Ophthalmopl... ORPHA:401768
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Abnormal anterior horn cell mor... ORPHA:1145
Muscular Dystrophy, Limb-Girdle, Type 1H
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu... OMIM:613530
Ataxia-Telangiectasia-Like Disorder 2
Ataxia, Congenital diaphragmatic hernia, Progressive muscle weakness, Joint contracture, Muscle w... OMIM:615919
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Gowers sign, Achilles tend... ORPHA:353
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Generalized muscle weakness, Increased variability in muscle fiber diameter ORPHA:238329
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Flexion contra... OMIM:618484
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume OMIM:185000
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Osteoporosis, Increased mean corpuscular volume, Neutropenia ORPHA:2169
Congenital Myopathy 4A, Autosomal Dominant
Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R... OMIM:255310
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... OMIM:300559
Childhood-Onset Nemaline Myopathy
Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar ... ORPHA:171439
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume OMIM:611590
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Progressive proximal muscle weakness, Chorea, Myopathy, Limb-girdle muscular dystrophy, Truncal a... ORPHA:369847
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Increased variability in... OMIM:611705
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Rimmed vac... ORPHA:270
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia OMIM:612562
Congenital Fiber-Type Disproportion Myopathy
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... ORPHA:2020
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Facial pal... OMIM:258450
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Red... OMIM:617052
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal muscle weakness, Fatty replacemen... ORPHA:52430
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Muscle weakness OMIM:614808
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Muscle weakness OMIM:105500
Coenzyme Q10 Deficiency, Primary, 1
Progressive muscle weakness, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta... OMIM:607426
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Ophthalmoplegia, Optic atrophy, Myopathy, Increased ... OMIM:125250
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
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu... ORPHA:600
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Rocker bottom foot, Paucity of a... OMIM:611890
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi... ORPHA:486815
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness OMIM:300076
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl... ORPHA:397744
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... ORPHA:368
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Abnormal cortical gyration, Flexion contracture... OMIM:616867
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li... OMIM:616812
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Ataxia, Increased intramyocellular lipid droplets OMIM:619065
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Proximal muscle wea... ORPHA:275872
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive muscle weakness, Limb muscle weakness, Facial palsy, Progressive external ophthalmopl... OMIM:610131
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia OMIM:615234
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia... OMIM:127550
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Muscle weakness OMIM:607225
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Typical Nemaline Myopathy
Neck flexor weakness, Facial palsy, Fatigable weakness of distal limb muscles, Fatiguable weaknes... ORPHA:171436
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Myopathy, Increased variability in muscle fiber... OMIM:616816
Cap Myopathy
Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... ORPHA:171881
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Ataxia, Gait ataxia OMIM:617915
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of... ORPHA:596
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Chorea, Athetosis, Optic disc pallor OMIM:617235
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm... ORPHA:848
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, M... OMIM:105550
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Optic disc pallor, Respiratory insufficiency due to muscle weakness, Pro... OMIM:615512
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy, Ataxia, Gait ataxia OMIM:215470
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Proximal musc... OMIM:254090
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Gowers sign, Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variabil... ORPHA:119
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Proximal muscle weakness, Ragged-re... ORPHA:70595
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, H... OMIM:205100
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Poor head control OMIM:613752
Dk1-Cdg
Progressive muscle weakness ORPHA:91131
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Limb-girdle muscle weakness, Progressive muscle weakness, Rhabdomyolysis... ORPHA:79240
Neutral Lipid Storage Myopathy
Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, G... ORPHA:98908
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... OMIM:231095
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Generalized muscle weakness OMIM:614096
Myasthenic Syndrome, Congenital, 19
Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ... OMIM:616720
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Broad toe, Diastasis recti, Progressive muscle weakness, 2-3 toe syndact... ORPHA:488632
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Pain insensitivity, Distal muscle weakness, Ataxia, Autoamputation of di... OMIM:256810
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... OMIM:253310
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Proximal muscle weakness, Gowers sign, Increased ... ORPHA:502423
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... ORPHA:300298
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Progressive muscle weakness, Increased sarcoplasmic glycogen ORPHA:264580
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... OMIM:606353
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Flexion contracture, Lower limb muscle weakness, Respirat... ORPHA:2590
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Optic Atrophy 11
Ataxia, Optic nerve hypoplasia, Optic atrophy, Dysmetria, Facial diplegia, Athetosis, Bilateral t... OMIM:617302
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, External ophthalmoplegia, Flexion contracture, Increas... OMIM:619026
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, External ophthalmo... OMIM:620351
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Progressive proximal muscle weakness, Myopathy, Shoulder girdle muscle weakness, Increase... ORPHA:98907
Oculopharyngodistal Myopathy 1
Distal muscle weakness, Autophagic vacuoles, Facial palsy, Ataxia, Proximal muscle weakness, Exte... OMIM:164310
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Distal lower limb amyotrophy, Pr... ORPHA:276244
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Distal muscle weakness, Gait ataxia, Generalized amyotrophy, Abnorm... OMIM:601162
Myopathy, Mitochondrial, And Ataxia
Ataxia, Dysmetria, Limb ataxia, Distal sensory impairment, Distal amyotrophy, Dysdiadochokinesis,... OMIM:617675
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Distal muscle weakness, Rhabdomyolysis, Ophthalmoparesis, Myopathy, Incr... OMIM:255125
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Generalized muscle weakness, ... OMIM:620278
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Atrophy of the spinal cord, ... ORPHA:35689
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... OMIM:619334
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Respiratory insufficiency due ... ORPHA:365
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Orthostatic hypotension, Paresthesia, Distal sensory impa... OMIM:263570
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Poor head control, Tapered finger, Type 1 muscle fiber predominance, Increased variability in mus... OMIM:612949
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra... OMIM:619461
Castleman Disease
Myelofibrosis, Decreased mean corpuscular volume, Thrombocytopenia, Anemia ORPHA:160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Poor head control, Muscular dystrophy, Increased variability in muscle fiber diameter, Polymicrog... OMIM:616538
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Muscle weakness OMIM:232800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, HbH hemoglobin, Microcytic anemia ORPHA:98791
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Talip... ORPHA:168572
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Flexion contracture, Genera... OMIM:613327
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Scapular winging, Distal muscle weakness, Ataxia, Optic a... OMIM:614298
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Poor head control OMIM:615595
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Generalized muscle weakness, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... OMIM:616503
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Joint hypermobility OMIM:617101
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Decreased motor nerv... ORPHA:79139
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Irregular ossification... OMIM:260400
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness, Abnormal autonomic nervous system physiology, Orthostatic h... ORPHA:43393
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Umbilical hernia, Hiatus hernia OMIM:619769
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... OMIM:613150
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Increased variability in muscle fiber diameter OMIM:604377
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia ORPHA:97214
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Muscle weakness, Muscle fiber splitting OMIM:611881
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Lethal Congenital Contracture Syndrome 10
Torticollis, Overlapping fingers, Femoral bowing, Macroglossia, Talipes equinovarus, Increased va... OMIM:617022
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Le... ORPHA:99867
Lead Poisoning
Cranial hyperostosis, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Short humerus, Short femur, Ragged-red muscle fibers, Flexion contractur... ORPHA:17
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flexion contracture, Abnormal hemoglobin, Anemia, Joint stiffness ORPHA:847
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Umbilical hernia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040

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 Gas7

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 Gas7.

No publications found that use IMPC mice or data for Gas7.

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MGI Allele Allele Type Produced
Gas7em1(IMPC)J Exon Deletion Mice
Gas7tm33807(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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