Gene Summary

Name:
spastic paraplegia 20, spartin (Troyer syndrome) homolog (human)
Synonyms:
TAHCCP1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased fasting circulating glucose level Spg20tm2b(EUCOMM)Hmgu HOM Early adult 4.89×10-06
decreased exploration in new environment Spg20tm2b(EUCOMM)Hmgu HOM Early adult 3.20×10-05
dilated aorta Spg20tm2b(EUCOMM)Hmgu HOM Early adult 1.36×10-05
preweaning lethality, incomplete penetrance Spg20tm2b(EUCOMM)Hmgu HOM   Early adult 0.00958

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lacZ Expression

Expression data not available

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

30 Images

Human diseases caused by Spg20 mutations

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

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

The table below shows human diseases associated to Spg20 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spastic Paraplegia 20, Autosomal Recessive
Upper limb spasticity, Spastic paraparesis, Dysmetria, Flexion contracture, Ankle clonus, Knee cl... OMIM:275900
Autosomal Recessive Spastic Paraplegia Type 20
Spastic paraparesis, Impaired vibratory sensation, Ankle clonus, Babinski sign, Spastic dysarthri... ORPHA:101000

The table below shows human diseases predicted to be associated to Spg20 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Autosomal Recessive Spastic Paraplegia Type 43
Flexion contracture of finger, Poor fine motor coordination, Spastic paraparesis, Impaired vibrat... ORPHA:320370
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Babinski sign, Distal sensory impairment, Freq... OMIM:302800
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Elevated circulating guanidinoacetic acid concentration, Myoclon... OMIM:612736
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coronary artery atheroscler... OMIM:132900
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Abnormal mitochondrial m... ORPHA:275872
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Gait disturbance, Tremor, Impaired pain sensation ORPHA:99014
Spastic Paraparesis-Deafness Syndrome
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait disturbance, Impaired pain sensation ORPHA:2815
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissue, Decreased HDL c... OMIM:604367
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Cognitive impairment ORPHA:1705
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity, Hyperuricemia OMIM:308950
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Distal sensory impairment, Steppage gait OMIM:302802
Spastic Ataxia 4, Autosomal Recessive
Babinski sign, Spastic ataxia, Spastic paraparesis OMIM:613672
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Amyotrophic lateral sclerosis, Extrapyramidal dyskinesia, Parkinsonism, Tetraparesis... OMIM:105550
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... OMIM:607483
Mast Syndrome
Spastic paraparesis, Babinski sign, Spastic paraplegia, Gait disturbance, Apraxia OMIM:248900
Distal 7Q11.23 Microduplication Syndrome
Anxiety, Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Multiple Symmetric Lipomatosis
Gait disturbance, Paresthesia, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, Ataxia, Spasticity OMIM:617854
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm OMIM:614823
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Spastic paraparesis OMIM:182610
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Ataxia, Hyperammonemia, Tetraparesis, Choreoathetosis ORPHA:27
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Hyperuricemia, Loss of facial adipose tissue, Loss of subcutan... ORPHA:79083
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Lesch-Nyhan Syndrome
Hemiplegia/hemiparesis, Spasticity, Hyperuricemia ORPHA:510
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Lymphangioma, Cutaneous angiolipomas, Visceral angiomatosis ORPHA:53721
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis ORPHA:140989
Phosphoribosylpyrophosphate Synthetase Superactivity
Ataxia, Hyperuricemia ORPHA:3222
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis ORPHA:67047
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Spastic Paraplegia 20, Autosomal Recessive
Upper limb spasticity, Spastic paraparesis, Dysmetria, Flexion contracture, Ankle clonus, Knee cl... OMIM:275900
Adrenoleukodystrophy
Paraparesis, Impaired vibration sensation at ankles, Limb ataxia, Elevated circulating long chain... OMIM:300100
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking, Somatic sen... ORPHA:101077
Morgagni-Stewart-Morel Syndrome
Action tremor, Hyperuricemia, Hypercholesterolemia ORPHA:77296
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
X-Linked Adrenoleukodystrophy
Paraparesis, Clumsiness, Hemiparesis, Gait disturbance, Somatic sensory dysfunction, Progressive ... ORPHA:43
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hyperammonemia, Myoclonus, Decreased plasma carnitine, Spasticity, Hyperuricemia OMIM:246450
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal aor... ORPHA:3400
Neurodegeneration With Brain Iron Accumulation 6
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturban... OMIM:615643
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm OMIM:604308
Autosomal Dominant Spastic Paraplegia Type 73
Impaired vibration sensation in the lower limbs, Babinski sign, Difficulty walking, Progressive s... ORPHA:444099
Purine Nucleoside Phosphorylase Deficiency
Hypertonia, Ataxia, Neoplasm, Spastic paraparesis, Cerebral palsy, Spasticity, Abnormal central m... ORPHA:760
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Burkitt Lymphoma
Neoplasm of the oral cavity, Hyperuricemia ORPHA:543
Lesch-Nyhan Syndrome
Opisthotonus, Choreoathetosis, Spasticity, Hyperuricemia, Dystonia, Abnormality of extrapyramidal... OMIM:300322
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic tetraparesis, Progressive spastic paraparesis, Spastic ataxia ORPHA:496756
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis ORPHA:391417
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Aortic dissection, Mucoid extracellular matrix accumulation OMIM:130090
Arnold-Chiari Malformation Type Ii
Paraparesis, Ataxia, Opisthotonus, Polymicrogyria, Paraplegia, Difficulty walking, Somatic sensor... ORPHA:1136
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Thoracic aortic aneurysm, Aortic arch aneurysm, Pulmonary artery... OMIM:613834
Congenital Heart Defects, Multiple Types, 7
Double aortic arch, Anxiety, Tetralogy of Fallot, Pulmonary artery atresia, Aortopulmonary collat... OMIM:618780
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia OMIM:613092
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... ORPHA:449400
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Beta-Ketothiolase Deficiency
Ataxia, Extrapyramidal dyskinesia, Hyperammonemia, Spasticity, Hyperuricemia ORPHA:134
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety, Hyperglycemia OMIM:618970
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Aortic aneurysm OMIM:614980
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia OMIM:617056
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Pro... ORPHA:254343
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Descending thoracic aorta aneury... ORPHA:91387
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration, Hyperuricemia OMIM:232600
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Loss of ambulation, Spastic parap... ORPHA:206443
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia ORPHA:261222
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Ankle clonus, Babinski sign, Progressive spasticity, Progressive spasti... ORPHA:506353
Bilateral Perisylvian Polymicrogyria
Paraparesis, Bilateral perisylvian polymicrogyria, Pseudobulbar paralysis, Dysmetria, Flexion con... ORPHA:98889
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Increased circulating inosine concentration, Spastic diplegia, Lymphoma, Tetraparesis, Tr... OMIM:613179
Arachnoid Cyst
Paraparesis, Neoplasm, Inability to walk, Hemiparesis, Distal sensory impairment, Tetraparesis, G... ORPHA:2356
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dystonia, Elevated circulating creatinine concentration, Abnormality of extrapyramidal motor func... ORPHA:79233
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Extrapyramidal muscular rigidity, Oculogyric crisis, Elevated circu... ORPHA:94093
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Hyperammonemia, Spastic hemiparesis, Myoclonus, Spasticity, Hyperuricemia ORPHA:20
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Hypertonia, Ataxia, Action tremor, Inability to walk, Intent... ORPHA:191
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Macular scar, Hyperphosphatemia, Hyperuricemia OMIM:239000
Acute Transverse Myelitis
Paraparesis, Impaired vibratory sensation, Babinski sign, Gait disturbance, Paraplegia, Somatic s... ORPHA:139417
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Ataxia, Hyperuricemia ORPHA:411543
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spasticity, Oculomotor apr... OMIM:614487
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia OMIM:203800
Loeys-Dietz Syndrome 6
Carotid artery dilatation, Thoracic aortic aneurysm, Abdominal aortic aneurysm, Vertebral artery ... OMIM:619656
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Leukodystrophy, Hypomyelinating, 3
Abnormal pyramidal sign, Progressive flexion contractures, Arthrogryposis multiplex congenita, Sp... OMIM:260600
Fibromuscular Dysplasia, Arterial
Aortic dissection, Stroke, Arterial fibromuscular dysplasia OMIM:135580
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Autosomal Recessive Spastic Paraplegia Type 11
Paraparesis, Ataxia, Inability to walk, Parkinsonism, Progressive spasticity, Gait disturbance, A... ORPHA:2822
Marfanoid Hypermobility Syndrome
Aortic aneurysm OMIM:154750
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Neonatal death, Coarctation of aorta OMIM:601612
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia, Abnormality of extra... OMIM:300894
Neurofibromatosis, Familial Spinal
Paraparesis, Symmetric spinal nerve root neurofibromas, Plexiform neurofibroma, Lisch nodules, Ne... OMIM:162210
Fragile X Syndrome
Ascending tubular aorta aneurysm, Anxiety, Self-injurious behavior ORPHA:908
Ollier Disease
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Abnormal cartilage morphology, Multiple encho... ORPHA:296
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Aortic Aneurysm, Familial Thoracic 12
Ascending tubular aorta aneurysm, Ascending aortic dissection, Aortic root aneurysm OMIM:619825
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spastic dysarthria, Spasti... ORPHA:313772
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, ... OMIM:613280
Leukodystrophy, Hypomyelinating, 2
Ataxia, Spastic paraparesis, Intention tremor, Babinski sign, Rigidity, Head titubation, Progress... OMIM:608804
Adult Krabbe Disease
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, Acroparesthesia, Hoffmann sign, Babinski sign, ... ORPHA:206448
Developmental And Epileptic Encephalopathy 82
Inability to walk, Spastic tetraplegia, Spastic paraparesis, Hyperammonemia OMIM:618721
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Hand tremor, Spastic paraparesis, Babinski sign, Parkinsonism, Rigidity, Frequent f... ORPHA:289560
Poliomyelitis
Paraparesis, Inability to walk, Hyperkinetic movements, Paralysis, Paresthesia, Fasciculations ORPHA:2912
Late-Onset Isolated Acth Deficiency
Pituitary adenoma, Decreased circulating cortisol level, Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Molybdenum Cofactor Deficiency, Complementation Group C
Hypertonia, Limb hypertonia, Hypertaurinemia, Polymicrogyria, Hypocystinemia, Hypouricemia OMIM:615501
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Spastic Paraplegia 75, Autosomal Recessive
Spastic paraparesis, Babinski sign, Dysmetria, Spastic dysarthria OMIM:616680
Rin2 Syndrome
Aortic aneurysm, Cognitive impairment ORPHA:217335
Peroxisome Biogenesis Disorder 8B
Spastic paraparesis, Ataxia, Spasticity, Dysmetria OMIM:614877
Wilson Disease
Parkinsonism with favorable response to dopaminergic medication, Increased circulating copper con... OMIM:277900
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia ORPHA:329284
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Glycogen Storage Disease Ia
Hyperlipidemia, Hepatocellular carcinoma, Hyperuricemia, Xanthelasma OMIM:232200
Cerebrotendinous Xanthomatosis
Paraparesis, Ataxia, Spastic paraparesis, Resting tremor, Babinski sign, Abnormal pyramidal sign,... ORPHA:909
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Sensory ataxia, Spastic paraparesis, Impaired vibratory sensation, Babinski sign, Mitochondrial h... OMIM:500013
Coasy Protein-Associated Neurodegeneration
Oromandibular dystonia, Difficulty walking, Parkinsonism, Spastic paraparesis ORPHA:397725
Phace Association
Anomalous branches of internal carotid artery, Coarctation of aorta, Patent ductus arteriosus, Va... OMIM:606519
Farber Disease
Paraparesis, Myoclonus, Spasticity, Flexion contracture ORPHA:333
Oculodentodigital Dysplasia
Paraparesis, Ataxia, Tetraparesis, Enamel hypoplasia, Joint contracture of the 5th finger, Spasti... OMIM:164200
Primary Lateral Sclerosis
Babinski sign, Weakness due to upper motor neuron dysfunction, Spastic dysarthria, Progressive sp... ORPHA:35689
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Hypercalcemia, Tetraparesis OMIM:602080
Lipodystrophy, Familial Partial, Type 1
Coronary artery atherosclerosis, Prominent superficial veins, Insulin-resistant diabetes mellitus... OMIM:608600
Aortic Aneurysm, Familial Thoracic 10
Coronary artery atherosclerosis, Aortic arch aneurysm, Aortic root aneurysm, Abdominal aortic ane... OMIM:617168
Phosphoribosylpyrophosphate Synthetase Superactivity
Ataxia, Hyperuricemia OMIM:300661
Glycogen Storage Disease Ib
Hyperlipidemia, Hepatocellular carcinoma, Hyperuricemia, Xanthelasma OMIM:232220
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Reduced subcutaneous adipose tissue, Hypokalemia OMIM:227810
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Increased circulating renin level, Hyponatremia, Hyperurice... ORPHA:95409
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Flexion contracture of digit, Spastic paraparesis, Hand trem... ORPHA:3041
Takayasu Arteritis
Ascending tubular aorta aneurysm, Arterial stenosis, Vascular dilatation, Vasculitis ORPHA:3287
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Loss of ambulation, Spastic paraparesis, Babinski sign, Frequent falls, Spasticity, Knee ... ORPHA:3208
Hyperuricemia, Hprt-Related
Hyperuricemia OMIM:300323
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hepatocellular carcinoma, Hepatocellular adenoma, Hypertriglyceridemia, Hyperuric... ORPHA:79259
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Lethal Ataxia With Deafness And Optic Atrophy
Ataxia, Tetraplegia, Hypouricemia ORPHA:1187
Xanthinuria, Type Ii
Hyperxanthinemia, Increased circulating hypoxanthine concentration, Hypouricemia OMIM:603592
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:411536
Addison Disease
Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Hyponatremia, H... ORPHA:85138
Cystinuria
Hyperuricemia ORPHA:214
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraparesis, Paraplegia, Hemiparesis ORPHA:79124
Temtamy Syndrome
Aortic aneurysm OMIM:218340
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperornithinemia, Spastic paraparesis, Poor coordination, Hyperammonemia, Impaired vibratory sen... OMIM:238970
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... ORPHA:90041
Medullary cystic kidney disease 2
Hyperuricemia OMIM:603860
Glycogen Storage Disease Ic
Hyperlipidemia, Hepatoblastoma, Hepatocellular carcinoma, Hyperuricemia, Xanthelasma OMIM:232240
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
Hirsutism, Skeletal Dysplasia, And Mental Retardation
Hyperuricemia OMIM:142625
X-Linked Charcot-Marie-Tooth Disease Type 2
Hand tremor, Spastic paraparesis, Clasp-knife sign, Babinski sign, Distal sensory impairment, Gai... ORPHA:101076
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Transposition of the gre... OMIM:217095
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:613854
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture, Spasticity, Spastic paraparesis OMIM:270200
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Molybdenum Cofactor Deficiency, Complementation Group B
Hypertonia, Opisthotonus, Myoclonic spasms, Spastic tetraplegia, Hypouricemia OMIM:252160
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Persistent left superior vena cava, Overriding aorta, Aortic aneurysm ORPHA:477817
Seckel Syndrome 10
Glucose intolerance, Glycosuria, Impaired glucose tolerance, Abdominal aortic aneurysm, Diabetes ... OMIM:617253
Encephalocraniocutaneous Lipomatosis
Hemiplegia, Hypertonia, Rigidity, Hemiparesis, Multiple lipomas, Lipodystrophy, Abnormal cartilag... ORPHA:2396
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Multiple Carboxylase Deficiency
Ataxia, Spastic paraparesis, Hyperammonemia ORPHA:148
Aortic Valve Disease 3
Aortic root aneurysm OMIM:618496
Igg4-Related Pachymeningitis
Paraparesis, Somatic sensory dysfunction, Elevated circulating C-reactive protein concentration ORPHA:449427
Pelizaeus-Merzbacher Disease In Female Carriers
Inability to walk, Spastic paraparesis, Hand apraxia, Babinski sign, Gait disturbance, Difficulty... ORPHA:280229
Hypomagnesemia 3, Renal
Hypomagnesemia, Hyperuricemia OMIM:248250
Gaucher Disease, Type Iii
Myoclonus, Ataxia, Spastic paraparesis OMIM:231000
Rift Valley Fever
Paraparesis, Paralysis, Decerebrate rigidity, Hemiparesis ORPHA:319251
Molybdenum Cofactor Deficiency, Complementation Group A
Opisthotonus, Myoclonic spasms, Spastic tetraplegia, Spastic tetraparesis, Hypouricemia OMIM:252150
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Decreased circulating ferritin concentration, Action tremor, Bradykinesia, Poor fine ... ORPHA:309854
Loeys-Dietz Syndrome 4
Aortic tortuosity, Arterial tortuosity, Aortic dissection, Aortic root aneurysm, Ascending tubula... OMIM:614816
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Aortic dissection, Vascular dilatation, Aortic root aneurysm,... ORPHA:3342
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Papillary cystadenoma of the epididymis, Renal cell carcinoma, Hyperuricemia ORPHA:93111
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Thoracic aortic aneurysm, Dextr... OMIM:619657
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Stroke, Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Aortic dissecti... OMIM:175050
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemia OMIM:614227
Loeys-Dietz Syndrome 2
Carotid artery dilatation, Generalized arterial tortuosity, Pulmonary artery aneurysm, Ascending ... OMIM:610168
Fatty Acid Hydroxylase-Associated Neurodegeneration
Loss of ambulation, Progressive spastic quadriplegia, Progressive extrapyramidal movement disorde... ORPHA:329308
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia, Reduced sperm motility OMIM:137920
Congenital Contractural Arachnodactyly
Aortic aneurysm ORPHA:115
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Abnormal venous morphology, Aortic dissection, Vascular dilatation, Aortic a... ORPHA:1900
Waardenburg Syndrome, Type 4A
Ataxia, Spastic paraparesis OMIM:277580
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm, Low frustration tolerance, Aggressive behavior, Emotional lability OMIM:309520
Macs Syndrome
Dilation of Virchow-Robin spaces, Aortic aneurysm OMIM:613075
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ataxia, Spastic paraparesis, Arthrogryposis-like hand anomaly, Camptodactyly, Umbilical hernia, I... ORPHA:369891
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Dorsocervical fat pad, Spastic paraparesis ORPHA:391408
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Inability to walk, Spastic paraparesis, Abnormal pyramidal sign, Distal sensory impairmen... ORPHA:254930
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Cognitive impairment, Progressive neurologic deterioration, Memory impairmen... ORPHA:90065
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia, Arteriovenous malformation, Intracranial hemorrhage, Aortic aneurysm ORPHA:109
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal descending aorta morphology, Anomalous origin of left pulmonary artery from ascending ao... ORPHA:99050
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Anxiety, Aggressive behavior, Aortic root aneurysm, Diabetes mellitus, I... ORPHA:449291
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Epidermal Nevus Syndrome
Hypertonia, Lipoma, Babinski sign, Spinal cord tumor, Rhabdomyosarcoma, Progressive spastic parap... ORPHA:35125
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Fructose Intolerance, Hereditary
Bicarbonaturia, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia OMIM:229600
Hereditary Xanthinuria
Hyperxanthinemia, Hypouricemia ORPHA:3467
Giant Cell Arteritis
Abdominal aortic aneurysm, Aortic dissection, Vasculitis, Double outlet right ventricle with subp... ORPHA:397
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Truncal ataxia, Spastic paraparesis OMIM:113610
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Anxiety, Patent ductus arteriosus, Aggressive behavior, Aortic aneurysm ORPHA:96121
Autosomal Recessive Multiple Pterygium Syndrome
Aortic aneurysm, Cognitive impairment ORPHA:2990
Monosomy 18Q
Aortic aneurysm, Patent ductus arteriosus, Left aortic arch with right descending aorta and right... ORPHA:1600
Autosomal Recessive Spastic Paraplegia Type 55
Poor fine motor coordination, Spastic paraparesis, Babinski sign, Distal sensory impairment, Spas... ORPHA:320375
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia OMIM:616026
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... ORPHA:552
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ataxia, Spastic paraparesis, Hypomethioninemia, Hemiparesis, Hyperhomocystinemia, Lower limb spas... ORPHA:395
Fixed Subaortic Stenosis
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Coarctation of aorta ORPHA:3092
Aicardi-Goutières Syndrome
Hypertonia, Multiple joint contractures, Hemiplegia/hemiparesis, Enchondroma, Extrapyramidal musc... ORPHA:51
Foix-Alajouanine Syndrome
Gait imbalance, Frequent falls, Somatic sensory dysfunction, Difficulty walking, Progressive spas... ORPHA:79093
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia ORPHA:94088
Alkaptonuria
Coronary artery calcification, Aortic aneurysm OMIM:203500
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Arterial tortuosity, Pulmonary artery dilatation, Aortic aneurysm, Gen... OMIM:614437
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Pulmonary artery dilatation OMIM:620067
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Thoracic aortic aneurysm, Aortic tortuosity, Subarachnoid hemorrhage,... OMIM:613795
Split Cord Malformation
Paraparesis, Lipoma, Teratoma, Spinal cord tumor, Capillary hemangioma ORPHA:573278
Alport Syndrome
Renal glomerular foam cells, Abnormal aortic morphology, Aortic aneurysm ORPHA:63
Osteogenesis Imperfecta, Type I
Aortic aneurysm OMIM:166200
Hypouricemia, Renal, 1
Hypouricemia OMIM:220150
Loeys-Dietz Syndrome
Arterial dissection, Arterial tortuosity, Aortic dissection, Patent ductus arteriosus, Vascular d... ORPHA:60030
Intellectual Developmental Disorder, Autosomal Dominant 66
Transposition of the great arteries, Cerebral cavernous malformation, Aortic root aneurysm OMIM:619910
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Cutis Laxa, Autosomal Recessive, Type Ia
Ascending tubular aorta aneurysm, Vascular tortuosity OMIM:219100
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent ductus arteriosus, Coarct... OMIM:610338
Autosomal Recessive Spastic Paraplegia Type 20
Spastic paraparesis, Impaired vibratory sensation, Ankle clonus, Babinski sign, Spastic dysarthri... ORPHA:101000
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... ORPHA:411634
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Ascending aortic dissection, Arterial tortuosity, Patent ductus arteri... OMIM:609192
Glycogen Storage Disease Due To Acid Maltase Deficiency
Thoracic aortic aneurysm, Abnormal internal carotid artery morphology, Cognitive impairment, Vasc... ORPHA:365
Eisenmenger Syndrome
Abnormal B-type natriuretic peptide level, Elevated circulating C-reactive protein concentration,... ORPHA:97214
Familial Bicuspid Aortic Valve
Thoracic aorta calcification, Aortic arch aneurysm, Ascending aortic dissection, Coarctation of a... ORPHA:402075
Kniest Dysplasia
Hip contracture, Inguinal hernia, Gait disturbance, Abnormal cartilage collagen, Umbilical hernia OMIM:156550
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Cognitive impairment, Aortic aneurysm, Anxiety, Suicidal ideation, Dilatation of the cerebral art... OMIM:619475
Chromosome 18Q Deletion Syndrome
Ascending tubular aorta aneurysm, Patent ductus arteriosus OMIM:601808
Shprintzen-Goldberg Craniosynostosis Syndrome
Aortic aneurysm OMIM:182212
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Aggressive behavior OMIM:301039
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Aortic aneurysm ORPHA:261330
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Anxiety, Patent ductus arteriosus, Aggressive behavior ORPHA:404443
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Ascending tubular aorta aneurysm, Stroke, Aortic root aneurysm, Thoracic aortic aneurysm ORPHA:536467
Marfanoid Habitus With Situs Inversus
Persistent left superior vena cava, Aortic root aneurysm OMIM:609008
Argininemia
Spastic paraparesis, Hyperammonemia, Hyperargininemia, Progressive spastic quadriplegia, Frequent... OMIM:207800
Say-Barber-Miller Syndrome
Lingual dystonia, Spastic paraparesis, Ankle clonus, Babinski sign, Impaired neutrophil chemotaxi... ORPHA:3132
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pachygyria, Lissencephaly, Abnormal cartilage matrix, Arthrogryposis multiplex congenita ORPHA:86822
Tuberous Sclerosis Complex
Self-injurious behavior, Anxiety, Aggressive behavior, Aortic aneurysm, Pulmonary lymphangiomyoma... ORPHA:805
Kyphoscoliotic Ehlers-Danlos Syndrome
Aortic aneurysm, Antenatal intracerebral hemorrhage, Subdural hemorrhage, Cerebral hemorrhage ORPHA:536545
Marfan Syndrome
Aortic tortuosity, Ascending aortic dissection, Arterial dissection, Pulmonary artery dilatation,... ORPHA:558
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Dextrotransposition of the great arteries, Coarctation of aorta, P... OMIM:270100
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Spastic paraparesis, Myoclonus, Distal sensory impairment, Spasticity, Spast... OMIM:609136
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Arterial tortuosity, Abdominal aortic aneurysm, Dilatation of the sinus of V... ORPHA:284984
Koolen-De Vries Syndrome Due To A Point Mutation
Intraventricular hemorrhage, Anxiety, Aortic aneurysm ORPHA:363965
17Q21.31 Microdeletion Syndrome
Intraventricular hemorrhage, Anxiety, Aortic aneurysm ORPHA:363958
Teebi Hypertelorism Syndrome 1
Anxiety, Panic attack, Aortic root aneurysm OMIM:145420
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Aortic aneurysm ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Aortic aneurysm ORPHA:352665
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Peripheral pulmonary artery stenosis, Coarctation of aorta,... ORPHA:90348
Larsen Syndrome
Aortic aneurysm OMIM:150250
Osteogenesis Imperfecta
Cerebral hemorrhage, Arterial dissection, Aortic dissection, Aortic root aneurysm, Aortic aneurysm ORPHA:666
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... ORPHA:3337
Oculodentodigital Dysplasia
Ataxia, Spastic paraparesis, Camptodactyly of finger, Gait disturbance, Spasticity, Umbilical her... ORPHA:2710
Adrenomyeloneuropathy
Abnormal circulating fatty-acid concentration, Babinski sign, Distal sensory impairment, Progress... ORPHA:139399
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Bilateral camptodactyly, Spastic paraparesis, Umbilical hernia OMIM:619234
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Thoracic aortic aneurysm OMIM:619351
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Cognitive impairment, Arteriovenous fistulas of celiac and mese... ORPHA:286
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Single coronary artery origin, Double aortic arch, Right aortic ar... OMIM:619702
Fontaine Progeroid Syndrome
Patent ductus arteriosus, Prominent superficial veins, Neonatal death, Aortic aneurysm OMIM:612289
Boudin-Mortier Syndrome
Aortic root aneurysm OMIM:619543
Lethal Kniest-Like Dysplasia
Abnormal cartilage morphology, Abnormal cartilage matrix ORPHA:2347
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm ORPHA:3093
Hurler Syndrome
Spastic paraparesis, Cerebral palsy, Abnormal pyramidal sign, Camptodactyly of finger, Hernia ORPHA:93473
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ascending tubular aorta aneurysm ORPHA:453499
Fanconi Anemia, Complementation Group C
Leukemia, Prolonged G2 phase of cell cycle, Flexion contracture OMIM:227645
Biotinidase Deficiency
Ataxia, Spastic paraparesis, Hyperammonemia ORPHA:79241
Laubry-Pezzi Syndrome
Ascending tubular aorta aneurysm, Dilatation of the sinus of Valsalva, Patent ductus arteriosus, ... ORPHA:99094
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix OMIM:245650
Ehlers-Danlos Syndrome, Classic-Like, 2
Carotid artery stenosis, Prominent superficial veins, Aortic root aneurysm OMIM:618000
Cap Myopathy
Aortic root aneurysm ORPHA:171881
Adult-Onset Still Disease
Cartilage destruction, Elevated circulating C-reactive protein concentration, Abnormal circulatin... ORPHA:829
Kawasaki Disease
Ascending tubular aorta aneurysm, Vasculitis, Irritability, Double outlet right ventricle with su... ORPHA:2331
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm ORPHA:444072
Neonatal Marfan Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm ORPHA:284979
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Type II diabetes mellitus, Aortic root aneurysm, Irritability OMIM:618891
Scheie Syndrome
Cerebral palsy, Spastic paraparesis ORPHA:93474
Viss Syndrome
Double outlet right ventricle, Carotid artery dilatation, Tortuous cerebral arteries, Abnormal br... OMIM:619472
Marfan Syndrome
Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Aortic dissection, Aortic root ane... OMIM:154700
Eales Disease
Spastic paraparesis ORPHA:40923
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic atherosclerotic lesion, Intracranial hemorrhage, Abnormality of the pulmonary artery, Aort... ORPHA:363618
Spondylodysplastic Ehlers-Danlos Syndrome
Ascending tubular aorta aneurysm, Prominent scalp veins ORPHA:536471
Classical-Like Ehlers-Danlos Syndrome Type 2
Prominent veins on trunk, Aortic root aneurysm, Diabetes mellitus, Carotid artery stenosis, Varic... ORPHA:536532
Koolen-De Vries Syndrome
Conspicuously happy disposition, Anxiety, Patent ductus arteriosus, Aortic root aneurysm OMIM:610443
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Anxiety, Coarctation of aorta, Patent ductus arteriosus, Ao... OMIM:617506
Spondyloepiphyseal Dysplasia Tarda
Paresthesia, Abnormal cartilage morphology ORPHA:93284
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm OMIM:130000
Contractural Arachnodactyly, Congenital
Patent ductus arteriosus, Aortic root aneurysm OMIM:121050
Fanconi Anemia, Complementation Group E
Leukemia, Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Leukemia, Prolonged G2 phase of cell cycle OMIM:227650
Autosomal Dominant Polycystic Kidney Disease
Dilatation of the cerebral artery, Aortic root aneurysm, Abnormal systemic arterial morphology ORPHA:730
Kniest Dysplasia
Abnormal cartilage collagen, Flexion contracture of finger ORPHA:485
Phace Syndrome
Abnormal carotid artery morphology, Coarctation of aorta, Tetralogy of Fallot, Abnormal cerebral ... ORPHA:42775
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Tetralogy of Fallot, Truncus arteriosus, Patent ductus arteriosus, Transposition of t... OMIM:600001
Moderate Hemophilia A
Hip contracture, Cartilage destruction ORPHA:169805
Cockayne Syndrome Type 3
Premature coronary artery atherosclerosis, Stroke, Subdural hemorrhage, Cognitive impairment, Pro... ORPHA:90324
Immunodeficiency 23
Aortic root aneurysm, Vasculitis in the skin OMIM:615816
Sotos Syndrome
Anxiety, Patent ductus arteriosus, Aggressive behavior, Aortic aneurysm, Neonatal hypoglycemia ORPHA:821
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Anxiety, Arterial dissection, C... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Anxiety, Arterial dissection, C... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Anxiety, Arterial dissection, C... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Anxiety, Arterial dissection, C... ORPHA:99226
Blau Syndrome
Large vessel vasculitis, Aortic aneurysm ORPHA:90340
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm ORPHA:230851
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm OMIM:616914
Fanconi Anemia, Complementation Group D2
Leukemia, Prolonged G2 phase of cell cycle OMIM:227646
Juvenile Idiopathic Arthritis
Cartilage destruction ORPHA:92
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Patent ductus arteriosus, Aortic root aneurysm OMIM:135500
Loeys-Dietz Syndrome 5
Ascending aortic dissection, Aortic root aneurysm OMIM:615582
Opitz Gbbb Syndrome
Persistent left superior vena cava, Patent ductus arteriosus, Aortic root aneurysm, Coarctation o... ORPHA:2745
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Aortopulmonary collateral arteries, Aortopulmonary window, Aortic ro... OMIM:620025
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm OMIM:245600
Multiple Osteochondromas
Osteochondroma, Chondrosarcoma, Scapular exostoses, Somatic sensory dysfunction, Rib exostoses, A... ORPHA:321
Williams Syndrome
Peripheral pulmonary artery stenosis, Type II diabetes mellitus, Stroke, Abnormal carotid artery ... ORPHA:904
Restrictive Dermopathy
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Transposition of the great arteries ORPHA:1662
X Small Rings
Aortic root aneurysm ORPHA:96201
Non-Specific Syndromic Intellectual Disability
Pulmonary artery dilatation, Panic attack, Aortic root aneurysm ORPHA:528084
Reactive Arthritis
Cartilage destruction, Enthesitis ORPHA:29207
1P36 Deletion Syndrome
Aortic arch aneurysm, Patent ductus arteriosus, Self-injurious behavior, Tetralogy of Fallot ORPHA:1606
Charge Syndrome
Aortic arch aneurysm, Interrupted aortic arch, Patent ductus arteriosus, Tetralogy of Fallot ORPHA:138
Hypermobile Ehlers-Danlos Syndrome
Ascending tubular aorta aneurysm, Arterial dissection, Venous insufficiency ORPHA:285
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Patent ductus arteriosus, Aortic root aneurysm ORPHA:280633
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Hyperglycemia ORPHA:444077
Alkaptonuria
Calcification of cartilage, Cartilage destruction ORPHA:56
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Flexion contracture, Spastic pa... OMIM:300166
Chromosome 1P36 Deletion Syndrome, Distal
Self-mutilation, Tetralogy of Fallot, Patent ductus arteriosus, Aortic root aneurysm, Aggressive ... OMIM:607872
Classical Ehlers-Danlos Syndrome
Arterial dissection, Dilatation of the cerebral artery, Aortic root aneurysm, Arteriovenous fistula ORPHA:287

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 Spg20

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 Spg20.

No publications found that use IMPC mice or data for Spg20.

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MGI Allele Allele Type Produced
Spg20tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Spg20tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Spg20tm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Spg20tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Spg20tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Spg20tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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