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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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)
Impaired proprioception, Impaired vibratory sensation, Impaired pain sensation, Hypertrophic nerv... DECIPHER:29
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Peripheral demyelination, Spontaneous pain sensation, Abnormal nerve... ORPHA:2932
Neuronopathy, Distal Hereditary Motor, Type Vc
Frequent falls, Thenar muscle atrophy, Chaddock reflex, Distal lower limb muscle weakness, Distal... OMIM:619112
Spinocerebellar Ataxia Type 4
Sensory axonal neuropathy, Impaired proprioception, Impaired vibratory sensation, Impaired tactil... ORPHA:98765
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Frequent falls, Distal arthrogryposis, Onion bulb formation, Ankle flexion contractu... OMIM:611228
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Somatic sensory dysfunction, Abnormal lower motor neuron morphology, Imp... ORPHA:95434
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Frequent falls, Limb muscle weakness, Decreased motor nerve conduction velocity, Distal sensory i... OMIM:614228
Distal Hereditary Motor Neuropathy Type 5
Thenar muscle weakness, First dorsal interossei muscle atrophy, Abnormal motor nerve conduction v... ORPHA:139536
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of the Achilles tendon, Inability to walk, Spastic paraplegia, Spasticity, Distal low... ORPHA:431329
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Abnormal sensory nerve conduction velocity, Intrinsic ha... ORPHA:276435
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Foot dorsiflexor weakness, Steppage gait, Upper limb muscle weakness, Decreased motor nerve condu... OMIM:302801
Giant Axonal Neuropathy 2, Autosomal Dominant
Impaired distal tactile sensation, Onion bulb formation, Steppage gait, Decreased motor nerve con... OMIM:610100
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Gait disturbance, Distal upp... ORPHA:101075
Hereditary Motor And Sensory Neuropathy V
Abnormal pyramidal sign, Frequent falls, Foot dorsiflexor weakness, Limb muscle weakness, Decreas... OMIM:600361
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Impaired vibratory sensation, Decreased amplitude of sensory action potentials, Proximal muscle w... OMIM:618912
Juvenile Primary Lateral Sclerosis
Abnormal pyramidal sign, Spastic tetraparesis, Spastic gait, Skeletal muscle atrophy, Spastic dys... ORPHA:247604
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Fasciculations, Bradykinesia, Ataxia, Decreased nerve conduction velocit... OMIM:183050
Charcot-Marie-Tooth Disease, Type 4H
Small thenar eminence, Small hypothenar eminence, Onion bulb formation, Peripheral hypomyelinatio... OMIM:609311
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Foot dorsiflexor weakness, Proximal amyotrophy, Distal sensory impairment, Distal amyotrophy, Com... OMIM:616040
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Lower limb muscle weakness, Thenar muscle atrophy, Impaired vibration sensation in t... ORPHA:352675
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Foot dorsiflexor weakness, Onion bulb formation, Steppage gait, Limb muscle weakness, Axonal dege... OMIM:118210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Foot dorsiflexor weakness, Steppage gait, Upper limb muscle weakness, Decreased motor nerve condu... OMIM:607678
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle atrophy, Abnormal lower motor neuron morphology, Lower limb muscle weakness, Vocal co... OMIM:607641
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Babinski sign, Abnormal upper motor neuro... OMIM:611637
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in upper limbs, Impaired vibration sensation in the lower limbs, Scapula... ORPHA:435387
Subacute Inflammatory Demyelinating Polyneuropathy
Positive Romberg sign, Tremor, Frequent falls, Somatic sensory dysfunction, Peripheral demyelinat... ORPHA:206594
Neuronopathy, Distal Hereditary Motor, Type Iid
Lower limb amyotrophy, Weakness of the intrinsic hand muscles, Lower limb muscle weakness, Fascic... OMIM:615575
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Lower limb amyotrophy, Distal lower limb muscle weakness, Amyotrophy of ankle musculature, Foot d... ORPHA:90103
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Hypertrophic cardiomyopathy, Decreased nerve conduction velocity, Skelet... ORPHA:868
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Foot dorsiflexor weakness, Flexion contracture, Onion bulb formation, Steppage gait, ... OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Distal upper limb amyotrophy, ... OMIM:619519
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Peripheral demyelination, Arrhythmia, Skeletal muscle atrophy, Decreased ner... ORPHA:99944
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Foot dorsiflexor weakness, Spastic gait, Abnormal motor nerve conduction vel... ORPHA:100998
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Impaired distal proprioception, Frequent falls, Chronic axonal neu... ORPHA:99948
Roussy-Lévy Syndrome
Frequent falls, Somatic sensory dysfunction, Impaired vibratory sensation, Skeletal muscle atroph... ORPHA:3115
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Skeletal muscle atrophy, Sensory ataxia, Decreased sensory nerve cond... ORPHA:101081
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal pyramidal sign, Lower limb muscle weakness, Apraxia, Spasticity, Gait disturbance, Abnor... ORPHA:101001
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Progressive spastic paraplegia, Sensory axonal neuropathy, Impaired pain sensation, Spastic parap... ORPHA:139578
Null Syndrome
Progressive spastic paraplegia, Peripheral demyelination, Inability to walk, Ataxia, Decreased ne... ORPHA:280234
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Impaired pain sensation, Ataxia, Decreased nerve conduction velocity, Ga... ORPHA:101078
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Foot dorsiflexor weakness, Onion bulb formation, Steppage gait, Axonal degeneration/regeneration,... OMIM:605588
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Atrophy of the spinal cord, Abnormal lower motor neuron morpholog... OMIM:602433
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Somatic sensory dysfunction, Decreased number of large peripheral myelinated nerve fibers, Steppa... OMIM:615376
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy OMIM:605589
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Spastic tetraparesis, Spastic gait, Abnormal lower motor neuron morphology, ... OMIM:205100
Monomelic Amyotrophy
Fasciculations, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of... ORPHA:65684
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Peripheral demyelination, Skeletal muscle atrophy, Vocal cord paresis, Decreased number of large ... OMIM:614895
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Froment sign, Hand muscle weakness, Vocal cord ... OMIM:162500
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Paraparesis, Skeletal muscle... ORPHA:99014
X-Linked Charcot-Marie-Tooth Disease Type 3
Foot dorsiflexor weakness, Somatic sensory dysfunction, Intrinsic hand muscle atrophy, Proximal m... ORPHA:101077
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Lower limb muscle weakness, Inability to walk, EMG: myopathic abnorm... ORPHA:99939
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onio... OMIM:180800
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Early-Onset X-Linked Optic Atrophy
Choreoathetosis, Intention tremor, Decreased nerve conduction velocity, Gait ataxia, Optic disc p... ORPHA:98890
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:601098
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Foot dorsiflexor weakness, Fasciculations, Axonal degeneration, S... OMIM:614436
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelinati... OMIM:605285
Autosomal Spastic Paraplegia Type 30
Leg muscle stiffness, Progressive spastic paraplegia, Spastic gait, Somatic sensory dysfunction, ... ORPHA:101010
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Foot dorsiflexor weakness, Steppage gait, Decreased nerve conduction velocity, Upper limb muscle ... OMIM:302802
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Myelin outfoldings, Clust... OMIM:607734
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Shoulder girdle muscle atrophy, Proximal muscle weakness in lower limbs, Per... ORPHA:98856
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Difficulty walking, Distal am... OMIM:611067
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Foot dorsiflexor weakness, Skeletal muscle atrophy, Lower limb muscle weakness, Decreased motor n... OMIM:613287
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis, Myocardial infarction OMIM:604091
Charcot-Marie-Tooth Disease Type 4G
Lower limb amyotrophy, Distal lower limb muscle weakness, Peripheral demyelination, Impaired vibr... ORPHA:99953
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Foot dorsiflexor weakness, Chronic axonal neuropathy, Fasciculations, Steppage gait, Decreased mo... OMIM:606595
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Limb muscle weakness, Spasticity, Abnormal upper motor ne... OMIM:614373
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Foot dorsiflexor weakness, Somatic sensory dysfunction, Steppage gait, Decreased number of periph... OMIM:600882
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Decreased nerve conduction velocity, Hypertonia ORPHA:1368
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia, Optic atrophy OMIM:136600
Polyglucosan Body Neuropathy, Adult Form
Tetraparesis, Orthostatic hypotension, Spastic paraplegia, Paresthesia, Distal sensory impairment... OMIM:263570
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Charcot-Marie-Tooth Disease, Type 4B1
Irregular myelin loops, Abnormal auditory evoked potentials, Decreased motor nerve conduction vel... OMIM:601382
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Somatic sensory dysfunction, Limb fasciculations, Lower... ORPHA:90117
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia, Inability to walk, Skeletal muscle at... OMIM:618184
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Paraparesis, Tremor, Incoordination, Dysmetria, Frequent falls, Hand muscle... OMIM:302800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Tetraparesis, Abnormal lower motor neuron morphology, Sk... OMIM:613954
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Onion bulb formation, Upper limb muscle weakness, Decreased mo... OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Foot dorsiflexor weakness, Impaired distal tactile sensation, Decreased distal sensory nerve acti... OMIM:618400
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in upper limbs, Cervical spinal cord atrophy, Optic nerve hypoplasia, Po... ORPHA:101085
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Foot dorsiflexor weakness, Hypertrophic nerve changes, Segmental peripheral demyelination/remyeli... OMIM:118220
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Fasciculations, Spasticity, Dist... OMIM:602099
Spastic Ataxia-Corneal Dystrophy Syndrome
Spinocerebellar tract degeneration, Ataxia, Gait disturbance, Hemiplegia/hemiparesis, Spastic ata... ORPHA:2572
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ne... OMIM:601455
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:614751
Leukodystrophy, Hypomyelinating, 18
Dysmetria, Flexion contracture, Abnormal motor nerve conduction velocity, Spastic tetraplegia, De... OMIM:618404
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... OMIM:618138
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Flexion contracture, Vocal cord paresis, Onion bulb formation, Axonal degeneration/regeneration, ... OMIM:607706
Parkinsonism With Polyneuropathy
Resting tremor, Decreased amplitude of sensory action potentials, Bradykinesia, Decreased motor n... OMIM:619279
Primary Lateral Sclerosis, Juvenile
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Spasticity of pharyngeal muscles, Spastic... OMIM:606353
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Spinocerebellar Ataxia Type 1
Abnormality of somatosensory evoked potentials, Dysmetria, Abnormality of masticatory muscle, Imp... ORPHA:98755
Ataxia-Pancytopenia Syndrome
Dysmetria, Impaired vibration sensation in the lower limbs, Decreased nerve conduction velocity, ... OMIM:159550
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Achilles tendon contracture, Dysmetria, Intention tremor, Ataxia, Decreased nerve conduction velo... OMIM:612674
Primary Lateral Sclerosis
Atrophy of the spinal cord, Spastic gait, Cervical spinal cord atrophy, Spastic dysarthria, Weakn... ORPHA:35689
Charcot-Marie-Tooth Disease And Deafness
Foot dorsiflexor weakness, Steppage gait, Limb muscle weakness, Decreased motor nerve conduction ... OMIM:118300
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Spinocerebellar tract degeneration, Dorsal column degeneration, Ataxia, Progressive cerebellar at... ORPHA:3177
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Foot dorsiflexor weakness, Peripheral demyelination, Hypertrophic nerve changes, Onion bulb forma... OMIM:118200
Wild Type Abeta2M Amyloidosis
Tetraparesis, Axonal loss, Abnormal tendon morphology, Gastrointestinal hemorrhage, Arrhythmia, C... ORPHA:85446
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Sensory axonal neuropathy, Joint contractures involving the joints of the feet, EEG abnormality, ... ORPHA:457205
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Aortic regurgitation, Patent ductus arteriosus, Abnormal left... OMIM:132900
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
X-Linked Progressive Cerebellar Ataxia
Axonal loss, Foot dorsiflexor weakness, Frequent falls, Dysmetria, Spinocerebellar tract degenera... ORPHA:1175
Spinocerebellar Ataxia 10
Incoordination, Abnormal pyramidal sign, Dysmetria, Decreased nerve conduction velocity, Progress... OMIM:603516
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity, Limb muscle weakness, Distal sensory i... OMIM:615284
Hypertrophic Neuropathy Of Dejerine-Sottas
Foot dorsiflexor weakness, Hypertrophic nerve changes, Segmental peripheral demyelination/remyeli... OMIM:145900
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Steppage gait, Hypotrophy of the... OMIM:607684
Ataxia-Deafness-Intellectual Disability Syndrome
Ataxia, Decreased nerve conduction velocity, Skeletal muscle atrophy ORPHA:1188
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Foot dorsiflexor weakness, Decreased motor nerve conduction velocity, Distal amyotrophy, Babinski... OMIM:605726
Spastic Ataxia, Charlevoix-Saguenay Type
Dysmetria, Spastic gait, Falls, Decreased number of large peripheral myelinated nerve fibers, Per... OMIM:270550
Charcot-Marie-Tooth Disease Type 4D
Lower limb amyotrophy, Somatic sensory dysfunction, Decreased amplitude of sensory action potenti... ORPHA:99950
Spinocerebellar Ataxia Type 23
Dysmetria, Impaired proprioception, Gait ataxia, Progressive cerebellar ataxia, Impaired distal v... ORPHA:101108
Charcot-Marie-Tooth Disease Type 1B
Somatic sensory dysfunction, Skeletal muscle atrophy, Peripheral dysmyelination, Decreased nerve ... ORPHA:101082
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Patent ductus arteriosus, Abnorma... ORPHA:229
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Atrophy of the spinal cord, Spastic gait, Decreased amplitude of sensory action potentials, Spast... OMIM:256840
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Inability to walk, Neonatal death, Paucity of anterior horn motor neuron... OMIM:611890
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Fasciculations, Amyotrophic lateral sclerosis, Proximal amyotrophy, Gait disturbance OMIM:608030
Spinocerebellar Ataxia 1
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Dysmetria, Impaired ... OMIM:164400
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Distal sensory impairment, Decreased nerve conduction velocity, Dis... OMIM:608895
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Impaired pain sensation, Abnormal nerve conduction velocity, Muscular dy... ORPHA:2926
Charcot-Marie-Tooth Disease, Type 4B2
Foot dorsiflexor weakness, Segmental peripheral demyelination/remyelination, Onion bulb formation... OMIM:604563
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Peripheral demyelination, Decreased nerve conduction velocity, Gait ataxia,... OMIM:249900
Spastic Paraplegia 30, Autosomal Dominant
Lower limb amyotrophy, Spastic gait, Dysmetria, Lower limb muscle weakness, Spastic paraplegia, A... OMIM:610357
X-Linked Charcot-Marie-Tooth Disease Type 2
Foot dorsiflexor weakness, Hand tremor, Intrinsic hand muscle atrophy, Optic neuropathy, Spastic ... ORPHA:101076
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Hypertrophic nerve changes, Axonal degeneration, Decreased number... OMIM:214400
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, EEG with persistent abnormal rhythmic activity, Impaired tactile sensation, Spast... ORPHA:206443
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Dilatation of the cerebral artery, Atherosclerosis ORPHA:91135
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Decreased sensory nerve conduction velocity, Decreased motor... OMIM:603472
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Abnormal circle of Willis morphology, Aortic dissection, Intracranial hemor... ORPHA:231160
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysmetria, Intention tremor, Ataxia, Decreased nerve conduction velocity, Dysdiadochokinesis, Bab... OMIM:618356
Myoclonus, Familial, 1
Frequent falls, Falls, Ataxia, Myoclonus OMIM:614937
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, Lower limb muscle weakn... ORPHA:2590
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Apraxia, Generalized amyotrop... ORPHA:275872
Leukodystrophy, Hypomyelinating, 2
Sensory axonal neuropathy, Choreoathetosis, Intention tremor, Spastic paraparesis, Ataxia, Decrea... OMIM:608804
Spastic Paraplegia 76, Autosomal Recessive
Sensory axonal neuropathy, Dysmetria, Skeletal muscle atrophy, Lower limb muscle weakness, Spasti... OMIM:616907
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Increased variability in muscle fiber diameter, Hand musc... OMIM:606070
Boucher-Neuhauser Syndrome
Intention tremor, Ataxia, Gait ataxia, Spasticity, Distal amyotrophy, Abnormal upper motor neuron... OMIM:215470
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation, Decreased nerve conduction velocity OMIM:608236
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Hypertonia OMIM:617228
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Vocal cord paresis, Decreased nerve conduction velocity, ... ORPHA:600
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Frequent falls, Hand tremor, Chronic axonal neuropathy, Skeletal muscle atrophy, Impaired distal ... OMIM:162400
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Impaired proprioception, Impaired vibration sensation... ORPHA:88628
Behr Syndrome
Achilles tendon contracture, Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Hamstri... OMIM:210000
Adult-Onset Distal Myopathy Due To Vcp Mutation
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Frequent falls, Parkinsonism, ... ORPHA:329478
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Decreased motor nerv... OMIM:607831
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormal pyramidal sign, Dysmetria, Intention tremor, Ataxia, Paresthesia, Camptodactyly of finge... ORPHA:48431
Amyotrophic Lateral Sclerosis 19
Loss of ability to walk, Amyotrophic lateral sclerosis OMIM:615515
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Sensory axonal neuropathy, Generalized amyotrophy, Increased variability in muscle fiber diameter... ORPHA:52430
Friedreich Ataxia
Impaired proprioception, Impaired vibratory sensation, Congestive heart failure, Decreased amplit... OMIM:229300
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Impaired proprioception, Skeletal muscle atrophy, Hyperintensity of MRI... OMIM:609033
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Abnormal motor nerve conduction velocity, Muscle fiber necrosis, Increased variability in muscle ... OMIM:614399
Hypercholesterolemia, Familial, 4
Atherosclerosis OMIM:603813
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Cor... OMIM:613485
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Parkinsonism, Paralysis, Amyotrophic lateral sclerosis OMIM:105500
Autosomal Dominant Spastic Paraplegia Type 19
Progressive spastic paraplegia, Lower limb amyotrophy, Spastic gait, Impaired proprioception, Low... ORPHA:100999
Leukodystrophy, Hypomyelinating, 5
Lower limb amyotrophy, Intention tremor, Lower limb muscle weakness, Loss of ability to walk, Ina... OMIM:610532
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia, Camptodactyly of finger, Decreased nerve conduction velocity, Gait disturbance ORPHA:2928
Extracranial Carotid Artery Aneurysm
Total anomalous pulmonary venous return, Arteriosclerosis, Arteritis, Atherosclerosis, Vasculitis... ORPHA:494424
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, EEG abnormality, Peripheral demyelination, Apraxia, Spasticity, Gait disturbance, Ba... OMIM:221770
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in upper limbs, Abnormality of peripheral somatosensory evoked potential... ORPHA:466768
Hypertriglyceridemia 1
Precocious atherosclerosis OMIM:145750
Hyperlipoproteinemia, Type Iv
Precocious atherosclerosis OMIM:144600
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dysmetria, Ataxia, Spasticity, Babinski sign, Postural tremor, Abnormal upper motor neuron morpho... OMIM:607694
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Atherosclerosis, Myocarditis ORPHA:2724
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Axonal loss, Orthostatic hypotension, Parkinsonism, Abnormal atrioventricular conduction, Peronea... OMIM:118301
Friedreich Ataxia
Hand muscle atrophy, Dysmetria, Sensory axonal neuropathy, Impaired proprioception, Cervical spin... ORPHA:95
Spinal Muscular Atrophy, Type Iv
Hand tremor, Degeneration of anterior horn cells, Proximal amyotrophy, Tongue fasciculations, Spi... OMIM:271150
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Proximal amyotrophy, Axonal deg... OMIM:604484
Hyperlipoproteinemia, Type Ii, And Deafness
Type IV atherosclerotic lesion OMIM:144300
Cednik Syndrome
Ataxia, Optic atrophy, Abnormality of peripheral nerve conduction, Congestive heart failure ORPHA:66631
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Extrapyramidal dyskinesia, Sk... OMIM:105550
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal nerve conduction velocity, Abnormal heart valve morphology, Abnormal pyr... ORPHA:93476
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Peripheral demyelination, Skeletal muscle atrophy, Abnormal autonomic ne... OMIM:252320
Yuan-Harel-Lupski Syndrome
Syringomyelia, Decreased nerve conduction velocity, Unsteady gait, Gait ataxia, Distal sensory im... OMIM:616652
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Fasciculations, Amyotrophic lateral sclerosis, Skeletal m... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Fasciculations, Amyotrophic lateral sclerosis, Skeletal m... OMIM:616437
Optic Atrophy With Demyelinating Disease Of Cns
Ataxia, Hemiparesis, Peripheral demyelination, Optic atrophy OMIM:165200
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Sitosterolemia 2
Premature coronary artery atherosclerosis OMIM:618666
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Decreased nerve conduction velocity, Skeletal muscle atrophy OMIM:614932
Hereditary Sensory And Autonomic Neuropathy Type 1
Trophic changes related to pain, Abnormality of the autonomic nervous system, Foot dorsiflexor we... ORPHA:36386
Charcot-Marie-Tooth Disease Type 1E
Impaired vibration sensation in the lower limbs, Abnormality of pain sensation, Hand muscle atrop... ORPHA:90658
Spastic Paraplegia 39, Autosomal Recessive
Progressive spastic paraplegia, Atrophy of the spinal cord, Ataxia, Gait disturbance, Distal lowe... OMIM:612020
Multifocal Motor Neuropathy
Fasciculations, Limb muscle weakness, Motor conduction block, Weakness of long finger extensor mu... ORPHA:641
Lecithin:Cholesterol Acyltransferase Deficiency
Foam cells OMIM:245900
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction ORPHA:101005
Spinal Muscular Atrophy, Type Ii
Hand tremor, Skeletal muscle atrophy, Degeneration of anterior horn cells, Tongue fasciculations,... OMIM:253550
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Head tremor, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Shoulder girdle muscle atrophy, Limb muscle weakness, Gait disturbance,... OMIM:167320
Machado-Joseph Disease Type 3
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Spinocerebellar tract degenerati... ORPHA:276244
Amyotrophic Lateral Sclerosis 11
Upper motor neuron dysfunction, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Degeneration of anterior horn cells, Axonal degeneration, Decreas... OMIM:604320
Hutchinson-Gilford Progeria Syndrome
Congestive heart failure, Myocardial infarction, Angina pectoris, Premature coronary artery ather... OMIM:176670
Metachromatic Leukodystrophy
Peripheral demyelination, Spastic tetraplegia, Ataxia, Decreased nerve conduction velocity, Tetra... OMIM:250100
Spastic Paralysis, Infantile-Onset Ascending
Achilles tendon contracture, Abnormal lower motor neuron morphology, Spastic tetraplegia, Spastic... OMIM:607225
Spinocerebellar Ataxia, Autosomal Recessive 18
Incoordination, Dysmetria, Flexion contracture, Ataxia, Gait ataxia, Truncal ataxia, Optic disc p... OMIM:616204
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Atherosclerosis, Epistaxis OMIM:610842
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Lower limb muscle weakness, Increased variability in muscle fiber diameter, EMG: myopathic abnorm... ORPHA:397744
Fish-Eye Disease
Angina pectoris, Atherosclerosis ORPHA:79292
Tangier Disease
Atherosclerosis, Myocardial infarction, Coronary artery atherosclerosis OMIM:205400
Niemann-Pick Disease, Type B
Foam cells with lamellar inclusion bodies, Bone-marrow foam cells OMIM:607616
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Impaired pain sensation, Impaired vibration sensation in the lower limbs, Hand paresthesia, Decre... OMIM:613640
Gm1-Gangliosidosis, Type Iii
Foam cells OMIM:230650
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Peripheral demyelination, Ataxia, Axonal degeneration, Decreased ... OMIM:604168
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Steppage gait, Limb muscle weakness, Axonal degeneration/regeneration, Decrea... OMIM:601152
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Krabbe Disease
EEG abnormality, Peripheral demyelination, Decreased nerve conduction velocity, Progressive spast... OMIM:245200
Apolipoprotein A-I Deficiency
Angina pectoris, Atherosclerosis, Premature coronary artery atherosclerosis ORPHA:425
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb muscle weakness, Generalized amyotrophy, Spastic paraple... OMIM:601162
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Skeletal muscle atrophy, Spinal muscular atrophy, Ankle flexion contractur... ORPHA:1145
Autosomal Recessive Spastic Paraplegia Type 55
Foot dorsiflexor weakness, Skeletal muscle atrophy, Lower limb muscle weakness, Optic neuropathy,... ORPHA:320375
Infantile Neuroaxonal Dystrophy
Spastic tetraparesis, Abnormal pyramidal sign, Flexion contracture, Diffuse axonal swelling, Abno... ORPHA:35069
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Fasciculations, Degeneration of anterior horn cells, Spasticity, Amyotro... OMIM:105400
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Decreased nerve conduction velocity, Skeletal muscle atrophy ORPHA:1933
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Hypertrophic car... OMIM:616501
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Parkinsonism, Ataxia, Babinski sign OMIM:615911
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Myocardial infarction, Hypertension, Congestive heart ... OMIM:615703
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Spastic tetraplegia, Ataxia, Decreased nerve conduction velocity, Unstea... OMIM:256600
Metachromatic Leukodystrophy, Late Infantile Form
Frequent falls, Decerebrate rigidity, Decreased nerve conduction velocity, Gait ataxia, Spasticit... ORPHA:309256
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Flexion contracture, Skeletal muscle atrophy, Onion bulb formation, Limb muscle weakness, Decreas... OMIM:218000
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity, Distal amyotrophy OMIM:611895
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Blephar... OMIM:607876
Homozygous Familial Hypercholesterolemia
Premature arteriosclerosis, Abnormal left ventricular function, Cerebral artery atherosclerosis, ... ORPHA:391665
Sialidosis Type 1
EEG abnormality, Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Myoclonus,... ORPHA:812
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Accelerated atheroscle... OMIM:264800
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Precocious atherosclerosis ORPHA:230839
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Congenital muscular dystrophy, EMG: myopathic abnormalities, Limb muscle weakness, Decreased moto... OMIM:601170
Lcat Deficiency
Premature coronary artery atherosclerosis, Atherosclerosis ORPHA:650
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Myocardial infarction, Hypertension, Coronary artery atherosclerosis OMIM:618620
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral artery atherosclerosis, Hypertension, Arterial stenosis, Coronary artery atherosclerosis ORPHA:1192
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Prominent veins on trunk, Hypertrophic cardiomyopathy, Coronary artery ... ORPHA:79083
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Parkinsonism, Scapular winging, Ataxia, Gait disturbance,... OMIM:614298
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Weakness of the intrinsic hand muscles, Muscular subvalvular aortic stenosis, Foot dorsiflexor we... OMIM:302900
Combined Oxidative Phosphorylation Defect Type 13
Type 2 muscle fiber atrophy, Choreoathetosis, Ankle flexion contracture, Decreased nerve conducti... ORPHA:319514
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Abnormal pyramidal sign, Chronic axonal neuropathy, Impaired proprioception, Impaired distal tact... OMIM:606002
Familial Partial Lipodystrophy, Dunnigan Type
Atherosclerosis, Hypertrophic cardiomyopathy, Coronary artery atherosclerosis, Congestive heart f... ORPHA:2348
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Apraxia, EEG with continuous slow activity,... ORPHA:100070
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Paralysis, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Poliomyelitis
Hypovolemic shock, Paralysis, Abnormal motor nerve conduction velocity, Abnormal skeletal muscle ... ORPHA:2912
Amyotrophic Lateral Sclerosis 18
Fasciculations, Amyotrophic lateral sclerosis, Spasticity, Skeletal muscle atrophy OMIM:614808
Lethal Ataxia With Deafness And Optic Atrophy
Abnormality of somatosensory evoked potentials, EEG with focal epileptiform discharges, Ataxia, D... ORPHA:1187
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Left-to-right shunt, Dextrocardia, Double outlet ... ORPHA:185
Cholesteryl Ester Storage Disease
Arteriosclerosis ORPHA:75234
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Retinal hemorrhage, Sudden cardiac death, Telangiectasia of the skin... ORPHA:758
Flynn-Aird Syndrome
Atherosclerosis ORPHA:2047
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Abnormal pyramidal sign, Impaired vibratory sensation, Spastic paraparesis, Poor coordination, De... OMIM:238970
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Atria... ORPHA:90308
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Paucity of anterior horn motor neurons, Arthrogryposis multiplex congeni... OMIM:253310
Dysbetalipoproteinemia
Type IV atherosclerotic lesion, Peripheral arterial stenosis, Accelerated atherosclerosis, Aortic... ORPHA:412
Panbronchiolitis, Diffuse
Foam cells OMIM:604809
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Congestive heart failure, Abnormal atrioventricular conduction, Hypertrophic cardiomyopathy, Acce... ORPHA:280365
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations, Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Metachromatic Leukodystrophy, Juvenile Form
Frequent falls, Intention tremor, Decreased nerve conduction velocity, Spasticity, Progressive ga... ORPHA:309263
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Coronary artery atherosclerosis ORPHA:79084
Combined Oxidative Phosphorylation Defect Type 39
EEG abnormality, Loss of ability to walk, Involuntary movements, Limb hypertonia, Lower limb spas... ORPHA:565624
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypovolemia, Mucoid extracellular matrix accumulation, Abdominal aortic aneurysm, Aortic regurgit... ORPHA:91387
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Steppage gait, Abnormality of peripheral nerves, Abnormal peripheral mye... ORPHA:168563
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Gastrointestinal hemorrhage, Retinal hemorrhage, Arterios... OMIM:177850
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Painless fractures due to injury, Decreased number of peripheral myelinated nerve fibers, Decreas... OMIM:201300
Friedreich Ataxia 2
Muscular subvalvular aortic stenosis, Incoordination, Impaired vibratory sensation, Congestive he... OMIM:601992
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Retinal hemorrhage, Decreased nerve conduction velocity, Centrally nucleated... OMIM:615368
Metachromatic Leukodystrophy, Adult Form
Frequent falls, Intention tremor, Decreased nerve conduction velocity, Spasticity, Chorea, Progre... ORPHA:309271
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Muscle fiber necrosis, Decreased amplitude of sensory action potential... OMIM:618733
Aorta Coarctation
Tetralogy of Fallot, Patent ductus arteriosus, Congestive heart failure, Coronary artery atherosc... ORPHA:1457
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Foam cells ORPHA:264675
Juvenile Amyotrophic Lateral Sclerosis
Hypertonia, Parkinsonism, Opisthotonus, Skeletal muscle atrophy, Contractures of the joints of th... ORPHA:300605
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Abnormal pyramidal sign, Spastic tetraplegia, Skeletal muscle atrophy, Decreased motor nerve cond... OMIM:615419
Arteriosclerosis, Severe Juvenile
Arteriosclerosis, Myocardial infarction, Calcification of the aorta, Hypertension, Central retina... OMIM:208060
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles, Amyotrophic lateral sclerosis OMIM:615426
Lipodystrophy, Familial Partial, Type 1
Hypertension, Prominent superficial veins, Coronary artery atherosclerosis OMIM:608600
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Pulmonary arterial hypertension, Transient ischemic attack, Atheroscler... ORPHA:1830
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Cardiac Diverticulum
Diastasis recti, Tricuspid atresia, Pulmonary artery hypoplasia, Premature ventricular contractio... ORPHA:1686
Scheie Syndrome
Abnormal nerve conduction velocity, Spastic paraparesis, Aortic regurgitation, Cerebral palsy ORPHA:93474
Dentatorubral Pallidoluysian Atrophy
Action tremor, Dysmetria, Choreoathetosis, Impaired proprioception, Optic neuropathy, Involuntary... ORPHA:101
Charcot-Marie-Tooth Disease Type 4C
Foot dorsiflexor weakness, Frequent falls, Vocal cord paresis, Impaired pain sensation, Head trem... ORPHA:99949
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Proximal muscle weakness in ... ORPHA:99956
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Atherosclerosis ORPHA:1979
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Coronary artery atherosclerosis, Hypertension, Cereb... ORPHA:280679
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Flexion contracture, Increased variability in muscle fiber diameter, Spastic paraplegia, Decrease... OMIM:619026
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Foot dorsiflexor weakness, Patent foramen ovale, Atrial septal defect, Double o... ORPHA:477817
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Arteriosclerosis ORPHA:199354
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal def... OMIM:126320
Paget Disease Of Bone 6
Coronary artery atherosclerosis OMIM:616833
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612069
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Aortic atherosclerotic lesion, Accelerated atherosclerosis, Coronary artery atherosclerosis ORPHA:209902
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Azoospermia, Unbalanced atrioventricular canal defect, Situs inversus t... OMIM:618300
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Portal hypertension, Peripheral demyelination, Spastic tetraplegia, Spastic paraparesis, Aganglio... OMIM:609136
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Paralysis, Skeletal muscle atrophy, Fatigable weakness of bulbar muscles, F... ORPHA:803
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Premature coronary artery atherosclerosis ORPHA:140905
Alstrom Syndrome
Dilated cardiomyopathy, Atherosclerosis, Hypertension, Congestive heart failure OMIM:203800
Infantile Krabbe Disease
Opisthotonus, Optic atrophy, Hyperesthesia, Spastic diplegia, Lower limb spasticity, Decreased ne... ORPHA:206436
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Elbow flexion contracture, Muscle fiber atrophy, Congestive heart failure, Abnormal venous morpho... ORPHA:1900
Mitochondrial Neurogastrointestinal Encephalomyopathy
Foot dorsiflexor weakness, Abnormality of the extraocular muscles, Ragged-red muscle fibers, Decr... ORPHA:298
Japanese Encephalitis
EEG abnormality, Opisthotonus, Cogwheel rigidity, Respiratory paralysis, Abnormality of extrapyra... ORPHA:79139
Cerebrotendinous Xanthomatosis
Paraparesis, Abnormality of extrapyramidal motor function, Tendon xanthomatosis, Somatic sensory ... ORPHA:909
Acatalasemia
Arteriosclerosis ORPHA:926
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Peroxisome Biogenesis Disorder 4B
Ataxia, Optic atrophy, Decreased nerve conduction velocity, Gait disturbance OMIM:614863
Schimke Immunoosseous Dysplasia
Cerebral ischemia, Transient ischemic attack, Arteriosclerosis, Hypertension OMIM:242900
Metachromatic Leukodystrophy
Incoordination, Frequent falls, Tip-toe gait, Decreased nerve conduction velocity, Ataxia, Gait d... ORPHA:512
Primary Lipodystrophy
Congestive heart failure, Type IV atherosclerotic lesion, Cardiomyopathy, Hypertension, Angina pe... ORPHA:90970
Secondary Short Bowel Syndrome
Atherosclerosis ORPHA:95427
Friedreich Ataxia And Congenital Glaucoma
Muscular subvalvular aortic stenosis, Impaired vibratory sensation, Congestive heart failure, Dec... OMIM:229310
Niemann-Pick Disease, Type C1
CNS foam cells, Bone-marrow foam cells, Foam cells OMIM:257220
Niemann-Pick Disease, Type C2
CNS foam cells, Bone-marrow foam cells, Foam cells OMIM:607625
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Amyotrophic lateral sclerosis OMIM:613435
Werner Syndrome
Congestive heart failure, Myocardial infarction, Telangiectasia of the skin, Atherosclerosis, Hyp... ORPHA:902
Hurler Syndrome
Abnormal pyramidal sign, Abnormal heart valve morphology, Endocardial fibroelastosis, Abnormal ne... ORPHA:93473
Gapo Syndrome
Atherosclerosis ORPHA:2067
Warburg Micro Syndrome 4
Flexion contracture, Spastic tetraplegia, Inability to walk, Decreased motor nerve conduction vel... OMIM:615663
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Foot dorsiflexor weakness, Vocal cord paresis, Shoulder girdle muscle atroph... OMIM:606071
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Achilles tendon contracture, Dysmetria, EEG abnormality, Contractures involving the joints of the... ORPHA:456312
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
EEG abnormality, Decreased nerve conduction velocity, Optic disc pallor, Spasticity, Optic atroph... ORPHA:485421
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Le... ORPHA:439232
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Optic atrophy, Decreased nerve conduction velocity OMIM:610651
Bickerstaff Brainstem Encephalitis
Tetraparesis, Abnormal pyramidal sign, Abnormality of the autonomic nervous system, Abnormal cran... ORPHA:79138
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Cerebral artery atherosclerosis, Renal artery stenosis, Coronary artery atherosclerosis OMIM:209010
Niemann-Pick Disease, Type A
Cherry red spot of the macula, Foam cells with lamellar inclusion bodies, Bone-marrow foam cells OMIM:257200
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Prominent superficial veins, Right bundle branch block, Pulmonary arterial hyp... OMIM:614008
Absence Of The Pulmonary Artery
Atrial fibrillation, Cardiomegaly, Abnormal hemidiaphragm morphology, Patent foramen ovale, Paten... ORPHA:980
Alkaptonuria
Atherosclerosis, Hypertension, Coronary artery calcification, Myocardial infarction ORPHA:56
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Aplasia of the right hemidiaphragm, Atrial septal ... OMIM:608978
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Lower limb spasticity, Ataxia, Hypertension, Gait ... ORPHA:90321
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Pulmonary artery vasocon... OMIM:178600
Amyotrophic Lateral Sclerosis 8
Fasciculations, Postural tremor, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:608627
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Proteus Syndrome
Venous malformation OMIM:176920
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Chediak-Higashi Syndrome
Foot dorsiflexor weakness, Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor OMIM:214500
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Abdominal aortic aneurysm, Aortic root aneurysm, Coronary artery atheroscle... OMIM:617168
Idiopathic Camptocormia
Fatigable weakness of skeletal muscles, Myositis, Abnormal muscle fiber dysferlin, Parkinsonism, ... ORPHA:1320
Werner Syndrome
Premature arteriosclerosis OMIM:277700
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Portal hypertension, Hepatic foam cells OMIM:278000
Lipodystrophy, Familial Partial, Type 2
Atherosclerosis, Hypertension, Prominent superficial veins OMIM:151660
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Prolonged QT interval, Abnormal left ventricular function, Coronary arter... ORPHA:36913
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Pulmonic stenosis, Coronary artery atherosclerosis ORPHA:435638
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Pulmonary artery hy... OMIM:616749
Parkes Weber Syndrome
Arteriovenous fistula, High-output congestive heart failure, Vascular tortuosity, Lower limb musc... ORPHA:90307
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Arrhythmia, Patent ductus arteriosus, Ventricular septal defect, Varicose veins OMIM:153400
Loeys-Dietz Syndrome 6
Abdominal aortic aneurysm, Thoracic aortic aneurysm, Carotid artery dissection, Dilatation of the... OMIM:619656
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Patent ductus arteriosus, Azoospermia, Atrial septal defect, Joint contracture of t... OMIM:602782
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Abnormal heart morphology, Camptodactyly, Varicose veins, Vascular dilatation OMIM:618343
Hypercholesterolemia, Familial, 1
Coronary artery atherosclerosis OMIM:143890
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Aortic root aneurysm, Coronary artery atheroscle... ORPHA:363618
Primary Hyperoxaluria Type 1
Atherosclerosis ORPHA:93598
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Chédiak-Higashi Syndrome
Atrophy of the spinal cord, Somatic sensory dysfunction, Parkinsonism, Inability to walk, Spastic... ORPHA:167
Hypercholesterolemia, Familial, 2
Coronary artery atherosclerosis OMIM:144010
Autoimmune Pulmonary Alveolar Proteinosis
Foam cells ORPHA:747
Lysosomal Acid Lipase Deficiency
Hypovolemia, Hypotension, Coronary artery atherosclerosis, Pulmonary arterial hypertension, Bone-... ORPHA:275761
Frontotemporal Dementia
Parkinsonism, Amyotrophic lateral sclerosis OMIM:600274
Gastrocutaneous Syndrome
Coronary artery atherosclerosis ORPHA:2069
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Pulmonary arterial hypertensio... OMIM:612541
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Left ventricular diastolic dysfunction, Aortic valve steno... ORPHA:740
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Abnormal cardiac a... ORPHA:2306
Tangier Disease
Accelerated atherosclerosis, Coronary artery stenosis, Carotid artery stenosis ORPHA:31150
Mucopolysaccharidosis Type 2
Abnormal pulmonary valve morphology, Abnormal heart valve morphology, Abnormal tricuspid valve mo... ORPHA:580
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Systolic heart murmur, Tricuspid atresia, Atrial septal defect, Partial anom... OMIM:617478
Congenital Disorder Of Deglycosylation 1
Action tremor, Dysmetria, Facial hypotonia, Intrinsic hand muscle atrophy, Involuntary movements,... OMIM:615273
Lymphatic Malformation 7
Atrial septal defect, Varicose veins, Pericardial effusion OMIM:617300
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Venous malformation, Prominent superficial veins ORPHA:75508
Cockayne Syndrome
Retinal hemorrhage, Vascular calcification, Retinal arteriolar constriction, Atherosclerosis, Hyp... ORPHA:191
Farber Disease
Cherry red spot of the macula, CNS foam cells ORPHA:333
Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Arrhythmia, Coronary artery atherosclerosis, Cardiomyopathy, Low-output... ORPHA:565612
Cockayne Syndrome A
Arrhythmia, Peripheral dysmyelination, Ataxia, Decreased nerve conduction velocity, Abnormal audi... OMIM:216400
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Venous insufficiency, Arteriovenous malformation, Intracranial he... ORPHA:624
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Atrial Septal Defect 1
Second degree atrioventricular block, Atrial septal defect, Subvalvular aortic stenosis, Atrial s... OMIM:108800
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis ORPHA:220295
Primary Ciliary Dyskinesia
Situs inversus totalis, Double outlet right ventricle, Abnormal atrial arrangement, Abnormal hear... ORPHA:244
Foix-Alajouanine Syndrome
Arteriovenous fistula, Lower limb muscle weakness, Venous malformation, Myelopathy, Distal lower ... ORPHA:79093
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Pulmonary embolism ORPHA:745
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Patent foramen ovale, Atrial septal defect, Left ventricular nonc... OMIM:300967
Cockayne Syndrome Type 3
Flexion contracture, Retinal hemorrhage, Skeletal muscle atrophy, Intention tremor, Unsteady gait... ORPHA:90324
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Pulmonary embolism ORPHA:743
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, A... OMIM:265380
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Arteriovenous malformation, Congestive heart failure ORPHA:137608
Cockayne Syndrome B
Arrhythmia, Peripheral dysmyelination, Ataxia, Decreased nerve conduction velocity, Abnormal audi... OMIM:133540
Choreoacanthocytosis
Phonic tics, Hyperkinetic movements, Impaired vibratory sensation, Involuntary movements, Peronea... ORPHA:2388
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Loeys-Dietz Syndrome 3
Atrial fibrillation, Ventricular hypertrophy, Mitral regurgitation, Left ventricular hypertrophy,... OMIM:613795
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Heart murmur, Ventricular septal defect ORPHA:166035
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Hypoplasia of lymphatic vessels, Varicose veins, Abnormal lymphatic vessel ... ORPHA:568051
Autosomal Dominant Spastic Paraplegia Type 10
Leg muscle stiffness, Lower limb muscle weakness, Dupuytren contracture, Upper limb amyotrophy, D... ORPHA:100991
X-Linked Intellectual Disability, Nascimento Type
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricl... ORPHA:163956
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Carotid artery stenosis, Umbilical hernia, Varico... ORPHA:536532
Estrogen Resistance Syndrome
Coronary artery atherosclerosis ORPHA:785
Hereditary Sensory And Autonomic Neuropathy Type 4
Somatic sensory dysfunction, Abnormality of the autonomic nervous system, Painless fractures due ... ORPHA:642
Gaisböck Syndrome
Hypovolemia, Elevated diastolic blood pressure, Myocardial infarction, Peripheral arterial stenos... ORPHA:90041
Milroy Disease
Abnormal venous morphology, Varicose veins ORPHA:79452
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:565
Enlarged Parietal Foramina
Occipital encephalocele, Venous malformation, Myelomeningocele ORPHA:60015
Kaposi Sarcoma
Venous insufficiency ORPHA:33276
Atypical Werner Syndrome
Premature arteriosclerosis, Prominent superficial veins, Congestive heart failure, Peripheral art... ORPHA:79474
Angioosteohypertrophic Syndrome
Gastrointestinal hemorrhage, Congestive heart failure, Peripheral arteriovenous fistula, Pulmonar... ORPHA:2346
Sitosterolemia 1
Coronary artery atherosclerosis OMIM:210250
D-Bifunctional Protein Deficiency
Decreased muscle mass, Decreased nerve conduction velocity OMIM:261515
Lathosterolosis
Foam cells with lamellar inclusion bodies OMIM:607330
Livedoid Vasculopathy
Abnormal capillary morphology, Telangiectasia of the skin, Venous insufficiency, Hypertension, Va... ORPHA:542643
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619133
Niemann-Pick Disease Type C
Bone-marrow foam cells, Foam cells ORPHA:646
Heart Block, Congenital
Myocardial calcification, Absent atrioventricular node, Atrial arrhythmia, Cardiomyopathy, Atriov... OMIM:234700
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Torticollis, Oligospermia, Varicose veins OMIM:314300
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Occipi... ORPHA:567
Lymphedema-Distichiasis Syndrome
Arrhythmia, Varicose veins, Patent ductus arteriosus ORPHA:33001
Thauvin-Robinet-Faivre Syndrome
Varicose veins, Mitral valve prolapse, Ventricular septal defect, Macroglossia OMIM:617107
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Ventricular fibrillation, Rhabdomyolysis, ST segment depr... ORPHA:358
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Ventricular septal defect, Abnormal right ventricle morphology, Spina bifida occult... ORPHA:500095
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Varicose veins, Hypotension, Cerebral hemorrhage OMIM:263400
Thymic Carcinoma
Abnormal vena cava morphology ORPHA:99868
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... OMIM:610655
H Syndrome
Azoospermia, Abnormal cardiovascular system physiology, Varicose veins, Camptodactyly, Facial tel... ORPHA:168569
Renal Nutcracker Syndrome
Vulval varicose vein, Orthostatic hypotension, Dilatation of mesenteric artery, Syncope, Tachycar... ORPHA:71273
Ane Syndrome
Motor neuron atrophy, Generalized amyotrophy, Multiple joint contractures ORPHA:157954
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal hemorrhage, Nail bed telangiectasia, Cerebral arteriovenous malformation, Hepati... OMIM:187300
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Bacterial endocarditis, Spontaneous, recurrent epistaxis, Mitral valve calcification... ORPHA:2072
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Arteriovenous fistula, Peripheral arteriovenous fistula, Pulmona... ORPHA:286
Hypermobile Ehlers-Danlos Syndrome
Arrhythmia, Tendon rupture, Decreased nerve conduction velocity, Paresthesia, Aplasia/Hypoplasia ... ORPHA:285
Lymphatic Malformation 6
Atrial septal defect, Intestinal lymphangiectasia, Varicose veins OMIM:616843
Liposarcoma
Varicose veins ORPHA:69078
Hyperlipoproteinemia, Type Id
Premature coronary artery atherosclerosis OMIM:615947
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Abnormal venous morphology ORPHA:276280
Thymic Neuroendocrine Tumor
Abnormal vena cava morphology, Prominent veins on trunk ORPHA:97289
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Venous malformation OMIM:612918
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
Venous malformation, Varicose veins OMIM:613089
Proteus-Like Syndrome
Venous insufficiency ORPHA:2969
Clapo Syndrome
Venous malformation, Varicose veins ORPHA:168984
Visceral Steatosis, Congenital
Neonatal death, Myocardial steatosis OMIM:228100
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Varicose veins OMIM:125310
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending aortic dissection, V... OMIM:130050
Harrod Syndrome
Varicose veins OMIM:601095
Hepatocellular Carcinoma
Portal hypertension, Hypotension, Venous insufficiency, Budd-Chiari syndrome, Internal hemorrhage ORPHA:88673
Meige Disease
Varicose veins ORPHA:90186
Microphthalmia With Limb Anomalies
Venous insufficiency, Camptodactyly of 2nd-5th fingers, Arrhinencephaly ORPHA:1106
Glomuvenous Malformation
Venous malformation, Gastrointestinal arteriovenous malformation, Arteriovenous malformation ORPHA:83454
Chronic Visceral Acid Sphingomyelinase Deficiency
Cherry red spot of the macula, Coronary artery atherosclerosis ORPHA:77293
Occipital Horn Syndrome
Venous insufficiency, Vascular dilatation ORPHA:198
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Venous malformation ORPHA:221061
Norrie Disease
Venous insufficiency 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.

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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

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