banner
Genes Phenotypes Help, News, Blog

Gene: Shc1 MGI:98296

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
src homology 2 domain-containing transforming protein C1
Synonyms:
ShcA,  p66shc,  p66

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Shc1 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 Shc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... DECIPHER:29
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased compound muscle action potential a... OMIM:619112
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Hand muscle weakness, Decreased nerve conduction velocity, Fatiguabl... ORPHA:2932
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... ORPHA:95434
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Imp... ORPHA:276435
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Th... ORPHA:139536
Autosomal Recessive Spastic Paraplegia Type 57
Distal lower limb amyotrophy, Inability to walk, Spastic paraplegia, Optic atrophy, Babinski sign... ORPHA:431329
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal sensory impairment, Upper limb muscle weakness,... OMIM:302801
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Distal upper limb amyotrop... ORPHA:101075
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Decreased ne... OMIM:612577
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... ORPHA:247604
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,... OMIM:618912
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Hand muscle weakness, Distal sensory impairment, Upper... OMIM:608323
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fas... OMIM:183050
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle... OMIM:616040
X-Linked Charcot-Marie-Tooth Disease Type 6
Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased nerve conduction velocity, Impaire... ORPHA:352675
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... OMIM:611637
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Steppag... OMIM:607678
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Distal sensory impairment, Vestibular schwa... OMIM:613641
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Spasticity, Di... OMIM:600361
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, F... OMIM:615575
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor function, Difficul... ORPHA:101001
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diaphr... ORPHA:868
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment, Thenar ... OMIM:620111
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Quadriceps muscle weakness, Impaired vibration sensation in the lower limbs,... ORPHA:435387
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Ankle flexion contracture, Decreased nerve conduction ... OMIM:611228
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Vocal cord par... OMIM:607641
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Cardiomyopathy, D... OMIM:610100
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tr... ORPHA:101078
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Postural tremor, Abnormal motor nerve conduction velocity, Hand muscle weakn... ORPHA:100998
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease... OMIM:605726
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Impaired dist... OMIM:619519
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Babinski sign, Spastic paraplegia, Dysdiadochokin... ORPHA:101007
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Upp... OMIM:606595
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Hand muscle atrophy, Decreased distal sensory nerve ac... OMIM:607684
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired vibratory sensation,... ORPHA:3115
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment OMIM:605589
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy,... ORPHA:99014
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal sensory impairment, Se... ORPHA:101081
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... ORPHA:101010
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Fasciculations, Abnorm... ORPHA:65684
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Impaired dist... OMIM:616687
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... ORPHA:98890
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Small hypothenar eminenc... OMIM:609311
Charcot-Marie-Tooth Disease Type 4A
Frequent falls, Hand muscle weakness, Decreased nerve conduction velocity, Quadriceps muscle weak... ORPHA:99948
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... OMIM:619862
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... ORPHA:206594
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct... ORPHA:101077
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Upper limb muscle we... OMIM:302802
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Distal sensory... ORPHA:99944
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity, Peroneal muscle weakness, Peroneal muscle atrophy, The... OMIM:614751
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Distal lower ... OMIM:620068
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Thenar muscle ... OMIM:270685
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception... OMIM:616688
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ... ORPHA:139578
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal sensory impairment... OMIM:615376
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Premature coronary artery atherosclerosis OMIM:604091
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Decreased nerve conduction velocity, Inability to walk, Upper limb m... ORPHA:99939
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Progressive spasti... ORPHA:280234
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Waddling gait, Spinal muscular atrophy, Scapuloperoneal a... OMIM:611067
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor ORPHA:1368
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Decreased nerve conduction velocity, Intrinsic hand muscle atrophy,... ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Flexion contracture, Optic atrophy, Babinski s... OMIM:609260
Amyotrophic Lateral Sclerosis 16, Juvenile
Lower limb spasticity, Amyotrophic lateral sclerosis, Loss of ambulation, Lower limb muscle weakn... OMIM:614373
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Hand muscle weakness, Hypoesthesia, Vocal cord paralys... OMIM:162500
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired vibratory sensation, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, P... ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Decreased dis... OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, Distal amyotr... OMIM:118210
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased compound muscle action p... OMIM:618279
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia ORPHA:640
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Distal sensory impairment, Decreased amplitude of sensory action potentials OMIM:608673
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal lower limb amyotrophy,... OMIM:613287
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... OMIM:613954
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Inability to walk, Tre... ORPHA:90117
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Optic atrophy, Gait disturbance, Spinocerebellar ... ORPHA:2572
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Flexion contractur... OMIM:618404
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Postural tremor, Chorea, Optic atrophy, Impaired proprioception, Dysmetr... ORPHA:98755
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Absent brainstem auditory responses, Hand muscle we... ORPHA:101085
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Broad-based gait, Vocal cord ... OMIM:614895
Ataxia-Pancytopenia Syndrome
Ataxia, Decreased nerve conduction velocity, Unsteady gait, Impaired vibration sensation in the l... OMIM:159550
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct... OMIM:600882
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Decreased distal sensory... ORPHA:99953
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Ataxia, Dorsal column degeneration, Progressive cerebellar ataxia, Spinocerebellar tract degenera... ORPHA:3177
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending ao... ORPHA:229
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Ragged-red muscle fibers, Optic atrophy, Flexion contracture, Dilated cardiomyopathy, Bab... OMIM:252011
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... OMIM:253400
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Inability to walk, Sensory at... OMIM:618184
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Impaired proprioception, Babinski sign, Limb ataxia, Dysmetr... ORPHA:101108
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Waddling gait, Facial palsy, Decreased compound muscle action potential amplitude, Flexion contra... OMIM:603511
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal sensory im... OMIM:614436
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Decreased nerve conduction velocity, Distal sensory impairment, Upper li... OMIM:615284
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,... OMIM:118300
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia ORPHA:1188
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Ataxia, Impaired distal ... OMIM:607250
Spinocerebellar Ataxia 10
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Limb... OMIM:603516
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Par... OMIM:605285
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... OMIM:205100
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gait disturbance, Fasciculations, Proximal amyotrophy OMIM:608030
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Distal sensory impairment, Upper limb muscle weakness,... OMIM:605588
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Spastic paraplegia, Distal sensory impairment, Gait disturbance, Paresth... OMIM:263570
Combined Oxidative Phosphorylation Deficiency 20
Ataxia, EEG with burst suppression, Hypertonia, Left ventricular noncompaction, Hypertrophic card... OMIM:615917
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Decreased nerve conduction velocity, Congestive heart failure, Dyses... ORPHA:85446
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... ORPHA:171445
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Decreased distal sensory nerve action potential, Distal amyotrophy, Gait disturbance, Impaired di... OMIM:618400
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Babinski sign, Optic at... OMIM:612674
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ab... ORPHA:2926
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Dilatation of the cerebral artery, Atherosclerosis ORPHA:91135
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Postural tremor, Inabilit... ORPHA:99950
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Upper limb postural tremor, Distal sensory impairment,... OMIM:180800
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... ORPHA:206443
Spinal Muscular Atrophy, Type Iv
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... OMIM:271150
Boucher-Neuhauser Syndrome
Ataxia, Gait ataxia, Distal amyotrophy, Abnormal upper motor neuron morphology, Spasticity, Inten... OMIM:215470
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Incoordination, Hand mus... OMIM:302800
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n... OMIM:611890
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Optic disc pallor, Tibia... ORPHA:101076
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fatty replacem... ORPHA:329478
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Chorea, Impaired propriocepti... OMIM:164400
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Inability t... ORPHA:457205
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Flexion contrac... ORPHA:2590
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Loss of am... OMIM:249900
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... OMIM:603472
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:605253
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Paroxysmal atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... OMIM:606070
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... ORPHA:600
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Clonus, Decreased nerve conduction velocity, Poor coordination, Abn... OMIM:238970
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis OMIM:608320
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... ORPHA:494424
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Hand muscle atrophy, Toe extensor amyotrophy, Pelvic g... ORPHA:98856
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Peroneal muscle atrop... ORPHA:100989
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Distal amyotrophy, Distal sensory impairment OMIM:608895
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Lower limb spasticity, Clonus, Atrophy of the spinal c... OMIM:256840
Hypercholesterolemia, Familial, 4
Atherosclerosis OMIM:603813
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, Pe... OMIM:270550
Congenital Myopathy 10A, Severe Variant
Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of finger, Diaphragmatic pa... OMIM:614399
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas... OMIM:601455
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... OMIM:602099
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Skeletal muscle atrophy, Somatic sensory dysfunction, Skelet... ORPHA:101082
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Acute rhabdomyolysis, Abnormal pyramidal sign, Dysmetria, Parest... ORPHA:48431
Hypertriglyceridemia 1
Precocious atherosclerosis OMIM:145750
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d... OMIM:243000
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve... ORPHA:52430
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Arrhythmia, Gait disturbance, Camptodactyly of finger ORPHA:2928
Combined Oxidative Phosphorylation Deficiency 31
Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ... OMIM:617228
Friedreich Ataxia
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Babinski sign, Opti... OMIM:229300
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Atherosclerosis ORPHA:2724
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Skeletal muscle atrophy, Choreoathetosis OMIM:614932
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Impaired vibration sensation in the ... ORPHA:88628
Hyperlipoproteinemia, Type Ii, And Deafness
Type IV atherosclerotic lesion OMIM:144300
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypert... OMIM:618356
Cholesterol-Ester Transfer Protein Deficiency
Precocious atherosclerosis ORPHA:79506
Posterior Column Ataxia With Retinitis Pigmentosa
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Flexion contracture ... OMIM:609033
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... OMIM:607225
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal heart valve morphology, Abnormal pyr... ORPHA:93476
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Tricuspid regurgitation, Left ventricular systolic dysfunction, Ataxia, Dilate... OMIM:619167
Sea-Blue Histiocyte Disease
Foam cells OMIM:269600
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Broad-bas... OMIM:145900
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Hoffmann sign, Babinski sign... OMIM:601162
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis OMIM:610947
Cednik Syndrome
Congestive heart failure, Ataxia, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Hypoalphalipoproteinemia, Primary, 2
Premature coronary artery atherosclerosis OMIM:618463
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Steppage... OMIM:118220
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:105550
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... ORPHA:466768
Sitosterolemia 2
Premature coronary artery atherosclerosis OMIM:618666
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Steppage... OMIM:604563
Friedreich Ataxia
Decreased motor nerve conduction velocity, Hand muscle atrophy, Inability to walk, Chorea, Babins... ORPHA:95
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Hand muscle weakness, Peroneal muscle atrophy, Impaired temperature sensatio... ORPHA:90658
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Distal amyotrophy, Tremor, Distal sensory impairment OMIM:607734
Spastic Paraplegia 39, Autosomal Recessive
Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait disturbance, Distal lo... OMIM:612020
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired distal proprioceptio... OMIM:162400
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Torticollis, Head tremor... OMIM:613724
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, EEG abnormality, Gait disturbance, Myoclonus, Apraxia, Abnormal upper motor neuron... OMIM:221770
Lecithin:Cholesterol Acyltransferase Deficiency
Foam cells OMIM:245900
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased nerve conduction ve... OMIM:218000
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Rigidity, Head titubation, Babin... OMIM:608804
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Motor neuron atrophy, Bradykinesia, Falls, Shuffling gait, Spinocerebellar tract de... ORPHA:412066
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
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... OMIM:176670
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Steppage... OMIM:118200
Multifocal Motor Neuropathy
Limb muscle weakness, Weakness of long finger extensor muscles, Motor conduction block, Fascicula... ORPHA:641
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Atherosclerosis OMIM:610842
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction ORPHA:101005
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Decreased compound muscle act... OMIM:301830
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, Fa... ORPHA:276244
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Tremor, Vocal cord par... ORPHA:397744
Fish-Eye Disease
Angina pectoris, Atherosclerosis ORPHA:79292
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,... OMIM:608627
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Choreoathetosis,... ORPHA:319514
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Decreased compound muscle action potential amplitude, Flexion contracture, Generalized ... OMIM:618323
Niemann-Pick Disease, Type B
Foam cells with lamellar inclusion bodies, Bone-marrow foam cells OMIM:607616
Apolipoprotein A-I Deficiency
Atherosclerosis, Angina pectoris, Premature coronary artery atherosclerosis ORPHA:425
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Broad-based gait, Decreased muscle mass, Inability to ... OMIM:615490
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Abnormal pyramidal sig... OMIM:256600
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Impaired temperature sensation, Inability to walk, Distal sensory impairment,... ORPHA:36386
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Inability to walk by childhood/adolescence, Distal sen... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment OMIM:607831
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Hypertension, Coronary artery atherosclerosis, Myocardial infarction OMIM:618620
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Truncal titubation, Babins... OMIM:610532
Tangier Disease
Coronary artery atherosclerosis, Myocardial infarction, Atherosclerosis OMIM:205400
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity OMIM:608236
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations OMIM:613435
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity OMIM:611895
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Stroke, Precocious atherosclerosis ORPHA:230839
Gm1-Gangliosidosis, Type Iii
Foam cells OMIM:230650
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Myocardial infarction, Premature coronary artery atherosc... OMIM:615703
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia ORPHA:1933
Aorta Coarctation
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... ORPHA:1457
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Impaired pain sensation, Dysesthesia, Impaired vibrati... OMIM:613640
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... OMIM:250100
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseu... OMIM:105400
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve conduction velocity, Denervatio... OMIM:604320
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, EEG... ORPHA:812
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Progr... ORPHA:309256
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Premature coronary artery atherosclerosis OMIM:620058
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Coronary artery atherosclerosis, Arterial stenosis, Cerebral artery atherosclerosis ORPHA:1192
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Prominent veins on trunk, Hypertension, Hypertrophic cardiomyopathy, Co... ORPHA:79083
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... ORPHA:758
Scimitar Syndrome
Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Sing... ORPHA:185
Lcat Deficiency
Atherosclerosis, Premature coronary artery atherosclerosis ORPHA:650
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity OMIM:614808
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Scapular winging, Ataxia, Parkinsonism, Tremor, Babinski ... OMIM:614298
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Arteriosclerosis, Stroke, Vascular granular osmiophilic material deposition, Stroke-like episode ORPHA:199354
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Coronary artery atherosclerosis, Atheroscl... ORPHA:2348
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Babinski sign, Sensory ataxia, Gait ataxia, Decreased ... OMIM:616192
Krabbe Disease
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Hypertonia, Decerebrate rigi... OMIM:245200
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Optic atrophy, ... OMIM:601152
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Paralysis OMIM:300857
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aor... ORPHA:91387
Cholesteryl Ester Storage Disease
Arteriosclerosis ORPHA:75234
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Lower limb spasticity, Optic neuropathy, Tibialis muscle weakness, Babin... ORPHA:320375
Flynn-Aird Syndrome
Atherosclerosis ORPHA:2047
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N... OMIM:253310
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Clonus, Decreased compound muscle action potential amplitude, Small thenar emin... OMIM:620080
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity, EEG with burst s... OMIM:615368
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Distal sensory impairment, Degeneration of anterior horn cells, Proximal amyotrophy,... OMIM:604484
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness, Fasciculations OMIM:619141
Infantile Neuroaxonal Dystrophy
Ataxia, Spastic tetraparesis, Flexion contracture, Optic atrophy, Unsteady gait, Abnormal pyramid... ORPHA:35069
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Lower limb spasticity, Involuntary movements, Decreased nerve conduction veloc... ORPHA:565624
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Tetraparesis, Spasticity OMIM:617892
Dysbetalipoproteinemia
Accelerated atherosclerosis, Angina pectoris, Type IV atherosclerotic lesion, Peripheral arterial... ORPHA:412
Optic Atrophy 11
Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, EEG with focal sharp waves, Dysmetri... OMIM:617302
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal motor nerve conduction velocity,... ORPHA:2912
Panbronchiolitis, Diffuse
Foam cells OMIM:604809
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Ataxia, Optic atrophy, Spinal cord posterior columns m... ORPHA:1187
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Pulmonary embolism, Venous insuffi... ORPHA:90308
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait ataxia, Positive Rombe... OMIM:614575
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Precocious atherosclerosis, Abnorma... ORPHA:391665
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Lower limb spasticity, Ataxia, Clonus, Pa... ORPHA:300605
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Abnormal atrioventricular conduction, Supraventricular arrhythmia, P... ORPHA:280365
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Coronary artery atherosclerosis ORPHA:79084
Yuan-Harel-Lupski Syndrome
Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Distal sensory impairment, ... OMIM:616652
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Congestive heart failure, Hypertension, Arteriosclerosis of small cere... ORPHA:1830
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Foam cells ORPHA:264675
Werner Syndrome
Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vascular morphology, Congest... ORPHA:902
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Progressive gait a... ORPHA:309263
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... ORPHA:280679
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Tremor, Chorea, Impaired distal vibration sensation, I... OMIM:606002
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Absent outer dynein arms, Patent ductus arteriosus, Right aortic arch, Az... OMIM:618300
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressiv... ORPHA:309271
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Central retinal vessel vascular tortuosity, Calcification of the aorta, Ar... OMIM:208060
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Scheie Syndrome
Abnormal nerve conduction velocity, Spastic paraparesis, Cerebral palsy, Aortic regurgitation ORPHA:93474
Lipodystrophy, Familial Partial, Type 1
Hypertension, Prominent superficial veins, Coronary artery atherosclerosis OMIM:608600
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... OMIM:126320
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Ataxia, Acute rhabdomyolysis, Chorea, Babinski sign OMIM:604168
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Tremor, Opisthotonus, Choreoa... ORPHA:79139
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Atherosclerosis ORPHA:1979
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Optic atrophy, Abnormal pyram... OMIM:615419
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Paget Disease Of Bone 6
Coronary artery atherosclerosis OMIM:616833
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Flexion contracture, Spastic paraplegia, Increased var... OMIM:619026
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigabl... ORPHA:803
Ataxia With Vitamin E Deficiency
Ataxia, Tendon xanthomatosis, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebel... OMIM:277460
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal EKG, Incoordination, Ataxia, Congestive heart failure, Bab... OMIM:601992
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity OMIM:612069
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Flexion contracture, Tongue fasciculations OMIM:619851
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Frequent falls, Impaired pain sensation, Inability to ... ORPHA:99949
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Unsteady gait, Knee flexion contracture, Calf muscle hypertr... OMIM:618733
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Broad-based gait, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Decreased n... ORPHA:477817
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Decreased nerve conduction... ORPHA:206436
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Premature coronary artery atherosclerosis ORPHA:140905
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Arterial dissection, Congestive heart failure, Elbow flexion contracture, ... ORPHA:1900
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Aortic atherosclerotic lesion, Coronary artery atherosclerosis ORPHA:209902
Alstrom Syndrome
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Atherosclerosis OMIM:203800
Niemann-Pick Disease, Type A
Cherry red spot of the macula, Foam cells with lamellar inclusion bodies, Bone-marrow foam cells OMIM:257200
Acatalasemia
Arteriosclerosis ORPHA:926
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Painless fractu... OMIM:201300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Babinski sign, Ataxia, Parkinsonism OMIM:615911
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Hand mu... ORPHA:99956
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Steppage gait, Abnormality of peripheral nerve conduction ORPHA:168563
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Decre... OMIM:606071
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Secondary Short Bowel Syndrome
Atherosclerosis ORPHA:95427
Niemann-Pick Disease, Type C1
Foam cells, CNS foam cells, Bone-marrow foam cells OMIM:257220
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Limb joint contracture, Flexion contracture, Babinski ... OMIM:618186
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia OMIM:614863
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... ORPHA:485421
Gapo Syndrome
Abnormal cerebral vascular morphology, Atherosclerosis ORPHA:2067
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Cerebrotendinous Xanthomatosis
Abnormal pyramidal sign, Abnormal motor evoked potentials, Ataxia, Parkinsonism, Distal amyotroph... ORPHA:909
Hurler Syndrome
Cerebral palsy, Angina pectoris, Camptodactyly of finger, Abnormal heart valve morphology, Abnorm... ORPHA:93473
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Metachromatic Leukodystrophy
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturban... ORPHA:512
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Arteriosclerosis, Hypertension, Cerebral ischemia, Stroke, Pulmonary a... OMIM:242900
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmo... OMIM:614008
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Short... ORPHA:79102
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis OMIM:209010
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Foot join... ORPHA:456312
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... ORPHA:980
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to walk, Flexion cont... OMIM:615663
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Optic atrophy, Ataxia OMIM:610651
Niemann-Pick Disease, Type C2
Foam cells, CNS foam cells, Bone-marrow foam cells OMIM:607625
Meacham Syndrome
Stillbirth, Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricular septal defect,... OMIM:608978
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... OMIM:300845
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Ragged-red muscle fibers, Abnor... ORPHA:298
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Babinski sign, Impa... ORPHA:79138
Alkaptonuria
Coronary artery calcification, Hypertension, Myocardial infarction, Atherosclerosis ORPHA:56
Idiopathic Camptocormia
Myositis, Amyotrophic lateral sclerosis, Parkinsonism, Fatigable weakness of skeletal muscles, Fa... ORPHA:1320
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Immunodeficiency 97 With Autoinflammation
Foam cells OMIM:619802
Proteus Syndrome
Venous malformation OMIM:176920
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Foot joint contracture, Tremo... ORPHA:90321
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Cholesteryl Ester Storage Disease
Hepatic foam cells, Portal hypertension, Bone-marrow foam cells OMIM:278000
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Primary Hyperoxaluria Type 1
Stroke, Atherosclerosis ORPHA:93598
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Coronary artery atherosclerosis, Ventr... ORPHA:36913
Lipodystrophy, Familial Partial, Type 2
Hypertension, Prominent superficial veins, Atherosclerosis OMIM:151660
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arteriovenous malformation, V... ORPHA:90307
Chediak-Higashi Syndrome
Ataxia, Decreased nerve conduction velocity, Tremor, Gait disturbance, Foot dorsiflexor weakness OMIM:214500
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Coronary artery atherosclerosis, Pulmonic stenosis ORPHA:435638
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Lysosomal Acid Lipase Deficiency
Precocious atherosclerosis, Bone-marrow foam cells, Hypovolemia, Stroke, Hypotension, Pulmonary a... ORPHA:275761
Hypercholesterolemia, Familial, 1
Coronary artery atherosclerosis OMIM:143890
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow... OMIM:602782
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Abnormality of extrapyramidal motor functio... ORPHA:100070
Hypercholesterolemia, Familial, 2
Coronary artery atherosclerosis OMIM:144010
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... ORPHA:363618
Autoimmune Pulmonary Alveolar Proteinosis
Foam cells ORPHA:747
Chédiak-Higashi Syndrome
Somatic sensory dysfunction, Ataxia, Parkinsonism, Decreased nerve conduction velocity, Atrophy o... ORPHA:167
Gastrocutaneous Syndrome
Coronary artery atherosclerosis ORPHA:2069
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... ORPHA:740
Tangier Disease
Accelerated atherosclerosis, Coronary artery stenosis, Carotid artery stenosis ORPHA:31150
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Parkinsonism OMIM:600274
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Farber Disease
Cherry red spot of the macula, CNS foam cells ORPHA:333
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:745
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Renal artery atherosclerosi... ORPHA:565612
Cockayne Syndrome
Retinal hemorrhage, Hypertension, Retinal arteriolar constriction, Vascular calcification, Athero... ORPHA:191
Angioosteohypotrophic Syndrome
Prominent superficial veins, Telangiectasia of the skin, Venous malformation ORPHA:75508
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:743
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ... ORPHA:244
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis ORPHA:220295
Foix-Alajouanine Syndrome
Distal lower limb amyotrophy, Myelopathy, Cervical myelopathy, Arteriovenous fistula, Distal lowe... ORPHA:79093
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia,... OMIM:300967
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Cryptorchidism, Ventricular septal defect, Heart murmur ORPHA:166035
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Neonatal death, Atrioventric... OMIM:265380
Familial Chylomicronemia Syndrome
Precocious atherosclerosis, Pulmonary embolism ORPHA:444490
Werner Syndrome
Premature arteriosclerosis OMIM:277700
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Cryptorchidism, Pate... OMIM:612541
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Arteriovenous malformation ORPHA:137608
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Camptodactyly, Pulmonic stenosis, Aortic dissection, Vascular dilatation OMIM:618343
Mucopolysaccharidosis Type 2
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Decreased nerv... ORPHA:580
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation ORPHA:60015
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Milroy Disease
Hydrocele testis, Varicose veins, Abnormal venous morphology ORPHA:79452
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Optic disc pallor, Flexion contracture, Subdural hemorrhage, Retinal hem... ORPHA:90324
Cockayne Syndrome A
Hip contracture, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity... OMIM:216400
Wilson Disease
Poor motor coordination, Decreased nerve conduction velocity, Hypoesthesia, Tremor, Rigidity, Han... OMIM:277900
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Arrhythmia, Tetralogy of Fallot OMIM:153400
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal vena cava morpholog... ORPHA:163956
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Hypovolemia, Peripheral arterial stenosis, Elevated diast... ORPHA:90041
Autosomal Dominant Spastic Paraplegia Type 10
Distal lower limb amyotrophy, Dupuytren contracture, Upper limb amyotrophy, Varicose veins, Leg m... ORPHA:100991
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Pericardial effusion, Cryptorchidism, Prominent veins on trunk, Mitral v... ORPHA:536532
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Facial hypotonia, Involuntary movements, Chorea, Intrinsic hand muscle atroph... OMIM:615273
Cockayne Syndrome B
Ataxia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, Optic a... OMIM:133540
Atypical Werner Syndrome
Prominent superficial veins, Telangiectasia of the skin, Abnormal cerebral vascular morphology, C... ORPHA:79474
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619133
Estrogen Resistance Syndrome
Coronary artery atherosclerosis ORPHA:785
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:565
Kaposi Sarcoma
Venous insufficiency ORPHA:33276
Choreoacanthocytosis
Peroneal muscle atrophy, Chorea, Hypertonia, Muscle fiber atrophy, Loss of ambulation, Decreased ... ORPHA:2388
Lymphatic Malformation 7
Pericardial effusion, Atrial septal defect, Varicose veins OMIM:617300
Sitosterolemia 1
Coronary artery atherosclerosis, Carotid artery stenosis OMIM:210250
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Decreased muscle mass OMIM:261515
Lathosterolosis
Foam cells with lamellar inclusion bodies OMIM:607330
Livedoid Vasculopathy
Telangiectasia of the skin, Abnormal capillary morphology, Venous insufficiency, Hypertension, Va... ORPHA:542643
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Absent ou... OMIM:615067
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic sensory dysfunc... ORPHA:642
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Torticollis, Varicose veins, Oligozoospermia OMIM:314300
Niemann-Pick Disease Type C
Foam cells, Bone-marrow foam cells ORPHA:646
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Spin... ORPHA:567
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Lacunar stroke, Varicose veins, Stroke, Vascular granular osmiophilic material deposition OMIM:125310
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... OMIM:610655
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Varicose veins, Arrhythmia ORPHA:33001
Ane Syndrome
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy ORPHA:157954
Gitelman Syndrome
Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Rhabdomyolysis, Low-to-normal bl... ORPHA:358
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Lymphatic Malformation 6
Atrial septal defect, Varicose veins, Intestinal lymphangiectasia, Hydrocele testis OMIM:616843
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Abnormal venous morphology, Telangiectasia of the skin, Abnormal cerebral vascu... ORPHA:276280
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... ORPHA:71273
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... ORPHA:500095
Thymic Carcinoma
Abnormal vena cava morphology ORPHA:99868
H Syndrome
Abnormal cardiovascular system physiology, Azoospermia, Varicose veins, Facial telangiectasia, Ca... ORPHA:168569
Vascular Ehlers-Danlos Syndrome
Internal hemorrhage, Peripheral arteriovenous fistula, Cryptorchidism, Ascending tubular aorta an... ORPHA:286
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Varicose veins, Ventricular septal defect, Mitral valve prolapse OMIM:617107
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcification, Calcifi... ORPHA:2072
Liposarcoma
Varicose veins ORPHA:69078
Hyperlipoproteinemia, Type Id
Premature coronary artery atherosclerosis OMIM:615947
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall musculature, Parest... ORPHA:285
Thymic Neuroendocrine Tumor
Abnormal vena cava morphology, Prominent veins on trunk ORPHA:97289
Proteus-Like Syndrome
Venous insufficiency ORPHA:2969
Varicose Veins
Varicose veins OMIM:192200
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, Descending aort... OMIM:130050
Clapo Syndrome
Varicose veins, Venous malformation ORPHA:168984
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Venous malformation, Spinal dysraphism OMIM:612918
Microphthalmia With Limb Anomalies
Venous insufficiency, Cryptorchidism, Camptodactyly of 2nd-5th fingers ORPHA:1106
Meige Disease
Varicose veins ORPHA:90186
Occipital Horn Syndrome
Venous insufficiency, Vascular dilatation ORPHA:198
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation ORPHA:83454
Chronic Visceral Acid Sphingomyelinase Deficiency
Cherry red spot of the macula, Coronary artery atherosclerosis ORPHA:77293
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Norrie Disease
Venous insufficiency, Cryptorchidism ORPHA:649

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 Shc1

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 Shc1.

No publications found that use IMPC mice or data for Shc1.

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
Shc1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Shc1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter