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Gene: Spart MGI:2139806

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Gene Summary

Name:
spartin
Synonyms:
TAHCCP1,  Spg20

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased fasting circulating glucose level Sparttm2b(EUCOMM)Hmgu HOM Early adult 4.89×10-06
decreased exploration in new environment Sparttm2b(EUCOMM)Hmgu HOM Early adult 3.20×10-05
preweaning lethality, incomplete penetrance Sparttm2b(EUCOMM)Hmgu HOM   Early adult 0.00958
dilated aorta Sparttm2b(EUCOMM)Hmgu HOM Early adult 1.36×10-05

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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

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Human diseases caused by Spart 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 Spart by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Spastic gait, Difficulty walking, Dysmetria, Ankle clonu... OMIM:275900
Autosomal Recessive Spastic Paraplegia Type 20
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Speech apraxia, Ankle clonus, Babi... ORPHA:101000

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Ankle flexion contracture, Spastic paraparesis, Spasticity, Difficu... ORPHA:320370
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Paraparesis... OMIM:612736
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Dysmetria, Tremor, Distal sensory ... OMIM:302800
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnormality of extrapyramid... ORPHA:275872
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... OMIM:132900
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... ORPHA:726
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Paraparesis, Gait disturbance, Ataxia ORPHA:99014
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Ataxia ORPHA:2815
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Bradykinesia, Incoordination, Limb ataxia, Gait ataxia, Limb... OMIM:615157
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Bradykinesia, Akinesia, Myoclonus, Tremor, Distal sensory impairm... OMIM:606693
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Reduced subcutaneous adipose tissue, Hyperuricemia, Loss... OMIM:604367
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... OMIM:616053
Lesch-Nyhan Phenotype With Normal Hgprt
Spasticity, Choreoathetosis, Hyperuricemia OMIM:308950
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Steppage gait, Distal sensory impairment OMIM:302802
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Cognitive impairment ORPHA:1705
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism... OMIM:105550
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel... OMIM:607483
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Bradykinesia, Inability to walk, Myoclonus, Clumsiness, Paraparesis... OMIM:617854
Distal 7Q11.23 Microduplication Syndrome
Attention deficit hyperactivity disorder, Aortic aneurysm, Patent ductus arteriosus ORPHA:261102
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Ascending tubular aorta aneurysm, Arterial tortuosity OMIM:132800
Multiple Symmetric Lipomatosis
Multiple lipomas, Paresthesia, Gait disturbance, Abnormal adipose tissue morphology ORPHA:2398
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, D... ORPHA:423275
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Hyperammonemia, Paraparesis, Ataxia, Choreoathetosis ORPHA:27
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Pparg-Related Familial Partial Lipodystrophy
Loss of facial adipose tissue, Hyperuricemia, Loss of subcutaneous adipose tissue in limbs, Hyper... ORPHA:79083
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Primary Angiitis Of The Central Nervous System
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Incoordination, Babinski sign, Apraxia, Gait disturbance... OMIM:248900
Lesch-Nyhan Syndrome
Spasticity, Hemiplegia/hemiparesis, Hyperuricemia ORPHA:510
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Generalized dystonia, Spastic tetraparesis, Cerebral palsy, Hyperglycinemia, Hyperammonemia, Hype... OMIM:620358
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Ataxia ORPHA:3222
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... ORPHA:101077
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis ORPHA:101005
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Dysmetria, Parkinsonism,... OMIM:613647
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Limb ataxia, Truncal ataxia, Paraparesis, Elevated circulatin... OMIM:300100
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Visceral angiomatosis, Cutaneous angiolipomas ORPHA:53721
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Tip-toe gait, Elevated circulating phytanic acid concentration, ... OMIM:614877
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsi... ORPHA:43
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Action tremor, Hyperuricemia ORPHA:77296
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Spastic Ataxia 4, Autosomal Recessive
Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sign, Spastic atax... OMIM:613672
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Depression, Tetralogy of Fallot, Right aortic arch, Pulmonary... OMIM:618780
Autosomal Dominant Spastic Paraplegia Type 73
Progressive spastic paraplegia, Progressive spastic paraparesis, Difficulty walking, Impaired vib... ORPHA:444099
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Bradykinesia, Rigidity, Gait disturbance, Oromandibular dyston... OMIM:615643
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Spastic tetraparesis, Progressive spastic paraparesis ORPHA:496756
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Spasticity, Spastic paraparesis, Cerebral palsy, Abnormal central motor function, N... ORPHA:760
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection OMIM:616166
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spastic paraplegia, Progressive spastic paraparesis, Ankle clonus, Babinski sign, Tet... ORPHA:506353
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection OMIM:604308
Spastic Paraplegia 75, Autosomal Recessive
Spasticity, Spastic paraparesis, Dysmetria, Loss of ambulation, Babinski sign, Abnormal pyramidal... OMIM:616680
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Spastic paraplegia, Hyperornithine... OMIM:238970
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Progressive... ORPHA:254343
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Burkitt Lymphoma
Hyperuricemia, Neoplasm of the oral cavity ORPHA:543
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta, Aortic tortuosity, Ascending a... OMIM:614823
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... OMIM:617168
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Hsd10 Disease
Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreoathetosis ORPHA:391417
Lesch-Nyhan Syndrome
Spasticity, Hyperuricemia, Abnormality of extrapyramidal motor function, Opisthotonus, Dystonia, ... OMIM:300322
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Beta-Ketothiolase Deficiency
Spasticity, Hyperammonemia, Hyperuricemia, Ataxia, Extrapyramidal dyskinesia ORPHA:134
Glycogen Storage Disease Ixb
Hyperuricemia OMIM:261750
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Spastic gait, Difficulty walking, Dysmetria, Ankle clonu... OMIM:275900
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... ORPHA:449400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia OMIM:613092
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Acroparesthesia, Difficulty walking, Hemiplegia, Spastic diplegia, Tremor, I... ORPHA:206443
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Aortic aneurysm OMIM:614980
Bilateral Perisylvian Polymicrogyria
Spasticity, Bilateral perisylvian polymicrogyria, Oromotor apraxia, Perisylvian predominant thick... ORPHA:98889
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:1455
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232800
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Spastic hemiparesis, Hyperammonemia, Hyperuricemia, Myoclonus, Ataxia ORPHA:20
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia ORPHA:261222
Glycogen Storage Disease V
Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232600
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... ORPHA:91387
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Myelopathy, Htlv-1-Associated
Spastic paraparesis, Abnormal pyramidal sign OMIM:159580
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Dystonia, Hyperuricemia, Abnormality of extrapyram... ORPHA:79233
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Extrapyramidal muscular rigidity, Chorea, H... ORPHA:94093
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Myoclonus, Dysmetria, Spastic ataxia, Oculomotor apraxia, Ataxia... OMIM:614487
Cockayne Syndrome
Spasticity, Congenital contracture, Somatic sensory dysfunction, Contractures of the large joints... ORPHA:191
Arachnoid Cyst
Tetraparesis, Inability to walk, Paresthesia, Neoplasm, Distal sensory impairment, Hemiparesis, P... ORPHA:2356
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Decreased circulating carnitine concentration, Myoclonus, Hyperammonemia, Hyperuricemia OMIM:246450
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphoma, Tetraparesis, Tremor, Ataxia, Increased circulating inosine concentration... OMIM:613179
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Ataxia ORPHA:411543
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Macular scar OMIM:239000
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Acute Transverse Myelitis
Impaired vibratory sensation, Spasticity, Somatic sensory dysfunction, Dissociated sensory loss, ... ORPHA:139417
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Developmental And Epileptic Encephalopathy 82
Inability to walk, Spastic tetraplegia, Spastic paraparesis, Hyperammonemia OMIM:618721
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Dysmetria, Oculomotor apraxia, Ataxia, Dystonia, Spas... ORPHA:313772
Fibromuscular Dysplasia, Arterial
Stroke, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Neurofibromatosis, Familial Spinal
Neurofibroma, Symmetric spinal nerve root neurofibromas, Plexiform neurofibroma, Lisch nodules, P... OMIM:162210
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Bradykinesia, Rigidity, Babinski si... ORPHA:289560
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Increased total iron binding capacity, Bradykinesia, Tremor, Rigidity, Abnor... OMIM:613280
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Ascending aortic dissection, Ascending tubular aorta aneurysm OMIM:619825
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Abnormality of extrapyramidal motor function, Parkinsonism, Paraparesis, Gait ... ORPHA:2822
Leukodystrophy, Hypomyelinating, 2
Spastic paraparesis, Rigidity, Babinski sign, Head titubation, Ataxia, Dystonia, Progressive spas... OMIM:608804
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Periventricular Nodular Heterotopia
Aortic aneurysm, Patent ductus arteriosus ORPHA:98892
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Spastic paraparesis, Difficulty walking, Babinski sign, Mitochondri... OMIM:500013
Molybdenum Cofactor Deficiency, Type C
Hypouricemia, Hypocystinemia, Polymicrogyria, Limb hypertonia, Hypertonia, Hypertaurinemia OMIM:615501
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Adult Krabbe Disease
Spasticity, Broad-based gait, Acroparesthesia, Somatic sensory dysfunction, Progressive spastic p... ORPHA:206448
Poliomyelitis
Fasciculations, Inability to walk, Paresthesia, Hyperkinetic movements, Paralysis, Paraparesis ORPHA:2912
Late-Onset Isolated Acth Deficiency
Pituitary adenoma, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia ORPHA:199299
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia ORPHA:329284
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Neonatal death OMIM:601612
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Isolated Succinate-Coq Reductase Deficiency
Spasticity, Spastic paraparesis, Knee flexion contracture, Loss of ambulation, Babinski sign, Ata... ORPHA:3208
Coasy Protein-Associated Neurodegeneration
Difficulty walking, Parkinsonism, Spastic paraparesis, Oromandibular dystonia ORPHA:397725
Ollier Disease
Abnormal cartilage morphology, Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral... ORPHA:296
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Resting tremor, Somatic sensory dysfunction, Abnormality of extr... ORPHA:909
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Hypercalcemia, Tetraparesis OMIM:602080
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hepatocellular carcinoma OMIM:232200
Fragile X Syndrome
Attention deficit hyperactivity disorder, Irritability, Ascending tubular aorta aneurysm ORPHA:908
Primary Lateral Sclerosis
Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology... ORPHA:35689
Farber Disease
Flexion contracture, Paraparesis, Myoclonus, Spasticity ORPHA:333
Prune1-Related Neurological Syndrome
Tongue fasciculations, Spastic paraparesis, Inability to walk, Elevated circulating creatine kina... ORPHA:544469
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Spastic paraparesis, Hand tremor, Flexion contracture of digit, Reduced subcutaneous adipose tiss... ORPHA:3041
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Ataxia OMIM:300661
Rin2 Syndrome
Aortic aneurysm, Cognitive impairment ORPHA:217335
Oculodentodigital Dysplasia
Spasticity, Tetraparesis, Joint contracture of the 5th finger, Paraparesis, Enamel hypoplasia, At... OMIM:164200
Phace Association
Arterial stenosis, Aortic aneurysm, Coarctation of aorta, Anomalous branches of internal carotid ... OMIM:606519
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hepatocellular carcinoma OMIM:232220
Xanthinuria, Type Ii
Hypouricemia, Increased circulating hypoxanthine concentration, Hyperxanthinemia OMIM:603592
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, I... ORPHA:95409
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia, Tetraplegia, Ataxia ORPHA:1187
Hyperuricemia, Hprt-Related
Hyperuricemia OMIM:300323
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatocel... ORPHA:79259
Cardiomyopathy, Familial Restrictive, 3
Aortic aneurysm OMIM:612422
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Reduced subcutaneous adipose tissue, Increased serum bile acid ... OMIM:227810
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:411536
Wilson Disease
Hypouricemia, Hypoalbuminemia, Poor motor coordination, Chondrocalcinosis, Hand tremor, Decreased... OMIM:277900
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Takayasu Arteritis
Vasculitis, Arterial stenosis, Vascular dilatation, Ascending tubular aorta aneurysm ORPHA:3287
Cystinuria
Hyperuricemia ORPHA:214
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Hand tremor, Distal sensory impairment, Babinski sign, Ste... ORPHA:101076
Alstrom Syndrome
Elevated hemoglobin A1c, Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglycerid... OMIM:203800
Addison Disease
Thymoma, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hyperca... ORPHA:85138
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraplegia, Paraparesis, Hemiparesis ORPHA:79124
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia OMIM:300894
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare... OMIM:105210
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hepatoblastoma, Hepatocellular carcinoma OMIM:232240
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Spastic paraparesis, Abnormal pyramidal sign, Joint contracture OMIM:260600
Sjogren-Larsson Syndrome
Flexion contracture, Spastic paraparesis, Enamel hypoplasia, Spasticity OMIM:270200
Pelizaeus-Merzbacher Disease In Female Carriers
Spastic paraparesis, Hand apraxia, Difficulty walking, Inability to walk, Babinski sign, Lower li... ORPHA:280229
Medullary cystic kidney disease 2
Hyperuricemia OMIM:603860
Temtamy Syndrome
Aortic aneurysm OMIM:218340
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypomagnesemi... OMIM:248250
Seckel Syndrome 10
Insulin resistance, Glycosuria, Glucose intolerance, Abdominal aortic aneurysm, Diabetes mellitus... OMIM:617253
Conotruncal Heart Malformations
Coarctation of aorta, Transposition of the great arteries, Double outlet right ventricle, Truncus... OMIM:217095
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Rigidity, Babinski sign, Ataxia, Palatal tremor ORPHA:363722
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Aortic aneurysm OMIM:620070
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Overriding aorta, Double outlet right ventricle, Persistent left superior vena cava ORPHA:477817
Encephalocraniocutaneous Lipomatosis
Spasticity, Abnormal cartilage morphology, Capillary hemangioma, Hemiplegia, Hemiparesis, Rigidit... ORPHA:2396
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a... OMIM:613854
Loeys-Dietz Syndrome 6
Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebral artery, Transient isch... OMIM:619656
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Spastic paraparesis, Increased total iron binding ... ORPHA:309854
Fatty Acid Hydroxylase-Associated Neurodegeneration
Falls, Generalized dystonia, Progressive spastic paraparesis, Progressive spastic paraplegia, Los... ORPHA:329308
Gaucher Disease, Type Iii
Spastic paraparesis, Myoclonus, Ataxia OMIM:231000
Rift Valley Fever
Paralysis, Decerebrate rigidity, Paraparesis, Hemiparesis ORPHA:319251
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Spastic paraparesis, Umbilical hernia, Incoordination, Ataxia, ... ORPHA:369891
Molybdenum Cofactor Deficiency, Type A
Hypouricemia, Opisthotonus, Myoclonic spasms, Spastic tetraparesis, Spastic tetraplegia OMIM:252150
Molybdenum Cofactor Deficiency, Type B
Hypouricemia, Opisthotonus, Myoclonic spasms, Hypertonia, Spastic tetraplegia OMIM:252160
Igg4-Related Pachymeningitis
Elevated circulating C-reactive protein concentration, Paraparesis, Somatic sensory dysfunction ORPHA:449427
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal cell carcinoma, Papillary cystadenoma of the epididymis, Hyperuricemia ORPHA:93111
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemia OMIM:614227
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
Combined Oxidative Phosphorylation Defect Type 7
Spastic paraparesis, Difficulty walking, Inability to walk, Distal sensory impairment, Impaired t... ORPHA:254930
Waardenburg Syndrome, Type 4A
Spastic paraparesis, Ataxia OMIM:277580
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Aortic dissection, Pulmonary arteriovenous malformation, Stroke, Hepatic arteriovenous malformati... OMIM:175050
Arterial Tortuosity Syndrome
Aortic root aneurysm, Aortic dissection, Arterial stenosis, Pulmonary artery stenosis, Aortic ane... ORPHA:3342
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Dorsocervical fat pad, Spastic paraparesis ORPHA:391408
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor... OMIM:610168
Giant Cell Arteritis
Vasculitis, Depression, Aortic dissection, Double outlet right ventricle with subpulmonary ventri... ORPHA:397
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia, Reduced sperm motility OMIM:137920
Epidermal Nevus Syndrome
Progressive spastic paraparesis, Babinski sign, Hypertonia, Lipoma, Rhabdomyosarcoma, Spinal cord... ORPHA:35125
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Dextrotransposition of the great arteries, Double outlet right ventricle, Partial anomalous pulmo... OMIM:619657
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Aortic dissection, Abnormal venous morphology, Aortic aneurysm, Vascular dil... ORPHA:1900
Congenital Contractural Arachnodactyly
Aortic aneurysm ORPHA:115
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... OMIM:614816
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Autosomal Recessive Spastic Paraplegia Type 55
Spasticity, Spastic paraparesis, Distal sensory impairment, Babinski sign, Lower limb spasticity,... ORPHA:320375
Xanthinuria, Type I
Hypouricemia, Hyperxanthinemia OMIM:278300
Hereditary Xanthinuria
Hypouricemia, Hyperxanthinemia ORPHA:3467
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Depression, Aortic root aneurysm, Short attention span, Irritability, Attention deficit hyperacti... ORPHA:449291
Macs Syndrome
Aortic aneurysm, Dilation of Virchow-Robin spaces OMIM:613075
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Cystathioninemia, Spastic paraparesis, Hypomethioninemia, Hemiparesis, Lower limb spasticity, Gai... ORPHA:395
Bannayan-Riley-Ruvalcaba Syndrome
Aortic aneurysm, Arteriovenous malformation, Intracranial hemorrhage, Hypoglycemia ORPHA:109
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Low frustration tolerance, Ascending tubular aorta aneurysm OMIM:309520
Autosomal Recessive Multiple Pterygium Syndrome
Aortic aneurysm, Cognitive impairment ORPHA:2990
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Transient ne... ORPHA:552
Aicardi-Goutières Syndrome
Spasticity, Spastic paraparesis, Extrapyramidal muscular rigidity, Difficulty walking, Multiple j... ORPHA:51
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aorta morphology, Tetralogy... ORPHA:99050
Foix-Alajouanine Syndrome
Somatic sensory dysfunction, Progressive spastic paraparesis, Difficulty walking, Paresthesia, Ga... ORPHA:79093
Abdominal Obesity-Metabolic Syndrome 3
Stroke, Hyperglycemia, Type II diabetes mellitus, Coronary artery stenosis OMIM:615812
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Monosomy 18Q
Aortic aneurysm, Patent ductus arteriosus, Left aortic arch with right descending aorta and right... ORPHA:1600
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Lateral Meningocele Syndrome
Aortic aneurysm, Patent ductus arteriosus OMIM:130720
Marfan Syndrome
Arterial dissection, Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, Aortic... ORPHA:558
Distal 22Q11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Aortic aneurysm, Depression, Truncus arteriosus ORPHA:261330
Autosomal Recessive Spastic Paraplegia Type 20
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Speech apraxia, Ankle clonus, Babi... ORPHA:101000
Fixed Subaortic Stenosis
Coarctation of aorta, Patent ductus arteriosus, Ascending tubular aorta aneurysm ORPHA:3092
Alport Syndrome
Aortic aneurysm, Renal glomerular foam cells, Abnormal aortic morphology ORPHA:63
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Aortic root aneurysm, Transposition of the great arteries OMIM:619910
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Ascending tubular aorta aneurysm OMIM:620067
Loeys-Dietz Syndrome
Arterial dissection, Aortic dissection, Arterial tortuosity, Aortic aneurysm, Vascular dilatation... ORPHA:60030
Loeys-Dietz Syndrome 3
Aortic dissection, Arterial tortuosity, Tortuous cerebral arteries, Dilatation of the cerebral ar... OMIM:613795
Kniest Dysplasia
Umbilical hernia, Inguinal hernia, Hip contracture, Gait disturbance, Abnormal cartilage collagen OMIM:156550
Osteogenesis Imperfecta, Type I
Aortic aneurysm OMIM:166200
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Abnormal circulating B-type natriuretic pe... ORPHA:97214
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Dilatation of the cerebral artery, Transient ischemic attack, Abnormal internal carot... ORPHA:365
Argininemia
Spastic paraparesis, Hyperammonemia, Hyperargininemia, Progressive spastic quadriplegia, Spastic ... OMIM:207800
Shprintzen-Goldberg Craniosynostosis Syndrome
Aortic aneurysm OMIM:182212
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
Alkaptonuria
Coronary artery calcification, Aortic aneurysm OMIM:203500
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Depression, Dilatation of the cerebral artery, Short attention span, Emotional lability, Irritabi... OMIM:619475
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Stroke, Thoracic aortic aneurysm, Aortic root aneurysm, Ascending tubular aorta aneurysm ORPHA:536467
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Attention deficit hyperactivity disorder, Aortic root aneurysm OMIM:301039
Familial Bicuspid Aortic Valve
Thoracic aorta calcification, Aortic arch aneurysm, Coarctation of aorta, Ascending aortic dissec... ORPHA:402075
Cutis Laxa, Autosomal Recessive, Type Ia
Peripheral pulmonary artery stenosis, Vascular tortuosity, Ascending tubular aorta aneurysm OMIM:219100
Chromosome 18Q Deletion Syndrome
Patent ductus arteriosus, Ascending tubular aorta aneurysm OMIM:601808
Marfanoid Habitus With Situs Inversus
Persistent left superior vena cava, Aortic root aneurysm OMIM:609008
7Q11.23 Microduplication Syndrome
Aortic aneurysm, Patent ductus arteriosus ORPHA:96121
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Myoclonus, Distal sensory impairment, Torticollis, Ataxia, Arthr... OMIM:609136
Say-Barber-Miller Syndrome
Spastic paraparesis, Elbow flexion contracture, Knee flexion contracture, Ankle clonus, Babinski ... ORPHA:3132
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Dextrotransposition of the great arteries, Coarctation o... OMIM:270100
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity... OMIM:614437
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of the cerebral ar... OMIM:300989
Oculodentodigital Dysplasia
Spasticity, Spastic paraparesis, Umbilical hernia, Abnormal dental enamel morphology, Camptodacty... ORPHA:2710
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Bilateral camptodactyly, Spastic paraparesis, Umbilical hernia OMIM:619234
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pachygyria, Abnormal cartilage matrix, Arthrogryposis multiplex congenita, Lissencephaly ORPHA:86822
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, A... ORPHA:284984
Adrenomyeloneuropathy
Spasticity, Progressive spastic paraparesis, Distal sensory impairment, Babinski sign, Abnormal c... ORPHA:139399
Koolen-De Vries Syndrome Due To A Point Mutation
Attention deficit hyperactivity disorder, Aortic aneurysm, Intraventricular hemorrhage ORPHA:363965
17Q21.31 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Aortic aneurysm, Intraventricular hemorrhage ORPHA:363958
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Depression, Aortic root aneurysm, Type II diabetes mellitus, Irritability, Attention deficit hype... OMIM:618891
Kyphoscoliotic Ehlers-Danlos Syndrome
Aortic aneurysm, Antenatal intracerebral hemorrhage, Subdural hemorrhage, Cerebral hemorrhage ORPHA:536545
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Tuberous Sclerosis Complex
Attention deficit hyperactivity disorder, Aortic aneurysm, Depression, Pulmonary lymphangiomyomat... ORPHA:805
Intellectual Developmental Disorder, Autosomal Dominant 73
Aortic aneurysm OMIM:620450
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
Biotinidase Deficiency
Spastic paraparesis, Hyperammonemia, Ataxia ORPHA:79241
Osteogenesis Imperfecta
Arterial dissection, Aortic root aneurysm, Aortic dissection, Aortic aneurysm, Cerebral hemorrhage ORPHA:666
Hurler Syndrome
Spastic paraparesis, Cerebral palsy, Camptodactyly of finger, Hernia, Abnormal pyramidal sign ORPHA:93473
Alkaptonuria
Coronary artery calcification, Aortic aneurysm, Atherosclerosis ORPHA:56
Boudin-Mortier Syndrome
Aortic root aneurysm OMIM:619543
Ectopia Lentis 1, Isolated, Autosomal Dominant
Aortic root aneurysm OMIM:129600
Larsen Syndrome
Aortic aneurysm OMIM:150250
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Dilatation of the ventricular cavity, Coarctation of aorta,... ORPHA:90348
Arterial Tortuosity Syndrome
Aortic root aneurysm, Generalized arterial tortuosity, Ischemic stroke, Pulmonary artery stenosis... OMIM:208050
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Thoracic aortic aneurysm, Patent ductus arteriosus OMIM:619351
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Congenital... OMIM:619702
Scheie Syndrome
Spastic paraparesis, Cerebral palsy ORPHA:93474
Fontaine Progeroid Syndrome
Prominent superficial veins, Aortic aneurysm, Patent ductus arteriosus, Neonatal death OMIM:612289
Vascular Ehlers-Danlos Syndrome
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... ORPHA:286
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix OMIM:245650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ascending tubular aorta aneurysm ORPHA:453499
Ehlers-Danlos Syndrome, Classic-Like, 2
Carotid artery stenosis, Aortic root aneurysm, Prominent superficial veins OMIM:618000
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor... OMIM:609192
Cap Myopathy
Aortic root aneurysm ORPHA:171881
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm ORPHA:3093
Lethal Kniest-Like Dysplasia
Abnormal cartilage matrix, Abnormal cartilage morphology ORPHA:2347
Eales Disease
Spastic paraparesis ORPHA:40923
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Patent ductus arteriosus ORPHA:404443
Laubry-Pezzi Syndrome
Dilatation of the sinus of Valsalva, Patent ductus arteriosus, Abnormal coronary artery morpholog... ORPHA:99094
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm ORPHA:444072
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Ascending tubular aorta aneurysm ORPHA:536471
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Double outlet right ventricle OMIM:616652
Neonatal Marfan Syndrome
Aortic root aneurysm, Ascending tubular aorta aneurysm ORPHA:284979
Viss Syndrome
Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tortuosity, Dila... OMIM:619472
Kawasaki Disease
Vasculitis, Irritability, Double outlet right ventricle with subpulmonary ventricular septal defe... ORPHA:2331
Marfan Syndrome
Pulmonary artery dilatation, Aortic root aneurysm, Aortic dissection, Ascending tubular aorta ane... OMIM:154700
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm OMIM:130000
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Patent ductus arteriosus OMIM:121050
Spondyloepiphyseal Dysplasia Tarda
Paresthesia, Abnormal cartilage morphology ORPHA:93284
Congenital Heart Defects And Skeletal Malformations Syndrome
Coarctation of aorta, Aortic root aneurysm OMIM:617602
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Aortic atherosclerotic lesion, Abnormality of the pulmonary artery, Coronar... ORPHA:363618
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Carotid artery stenosis, Varicose veins, Diabetes... ORPHA:536532
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm OMIM:145420
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Pulmonary artery stenosis, Anomalous origin of right coronary artery f... OMIM:616462
Kniest Dysplasia
Abnormal cartilage collagen, Flexion contracture of finger ORPHA:485
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Abnormal circulating lipid concentration, ... ORPHA:829
Immunodeficiency 23
Aortic root aneurysm, Vasculitis in the skin OMIM:615816
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Coarctation of aorta, Hypoplastic aor... OMIM:617506
Turner Syndrome Due To Structural X Chromosome Anomalies
Arterial dissection, Depression, Aortic dissection, Aortic arch aneurysm, Hyperinsulinemia, Gastr... ORPHA:99413
Turner Syndrome
Arterial dissection, Depression, Aortic dissection, Aortic arch aneurysm, Hyperinsulinemia, Gastr... ORPHA:881
Mosaic Monosomy X
Arterial dissection, Depression, Aortic dissection, Aortic arch aneurysm, Hyperinsulinemia, Gastr... ORPHA:99228
Monosomy X
Arterial dissection, Depression, Aortic dissection, Aortic arch aneurysm, Hyperinsulinemia, Gastr... ORPHA:99226
Moderate Hemophilia A
Cartilage destruction, Hip contracture ORPHA:169805
Phace Syndrome
Aortic root aneurysm, Tetralogy of Fallot, Abnormal cerebral artery morphology, Coarctation of ao... ORPHA:42775
Autosomal Dominant Polycystic Kidney Disease
Dilatation of the cerebral artery, Abnormal systemic arterial morphology, Aortic root aneurysm ORPHA:730
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm ORPHA:230851
Opitz Gbbb Syndrome
Aortic root aneurysm, Short attention span, Persistent left superior vena cava, Coarctation of ao... ORPHA:2745
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Coarctation of aorta, Transposition of the great arteries, Patent ductus arte... OMIM:612474
Blau Syndrome
Large vessel vasculitis, Aortic aneurysm ORPHA:90340
Cockayne Syndrome Type 3
Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Premature coronary artery athe... ORPHA:90324
Koolen-De Vries Syndrome
Aortic root aneurysm, Patent ductus arteriosus OMIM:610443
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm OMIM:615349
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Depression, Aortic root aneurysm, Venous insufficiency, Ascending tubular ao... ORPHA:285
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Ascending tubular aorta aneurysm OMIM:620376
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Aortic root aneurysm, Patent ductus arteriosus OMIM:620654
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm OMIM:616914
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Aortic root aneurysm, Patent ductus arteriosus OMIM:135500
Sotos Syndrome
Attention deficit hyperactivity disorder, Aortic aneurysm, Neonatal hypoglycemia, Patent ductus a... ORPHA:821
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm OMIM:245600
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Ascending aortic dissection OMIM:615582
Cutis Laxa, Autosomal Recessive, Type Iid
Ascending tubular aorta aneurysm OMIM:617403
Williams Syndrome
Peripheral pulmonary artery stenosis, Depression, Abnormal cerebral vascular morphology, Tetralog... ORPHA:904
Multiple Osteochondromas
Rib exostoses, Somatic sensory dysfunction, Abnormal cartilage morphology, Osteochondroma, Scapul... ORPHA:321
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Aortopulmo... OMIM:620025
Restrictive Dermopathy
Transposition of the great arteries, Patent ductus arteriosus, Ascending tubular aorta aneurysm ORPHA:1662
Charge Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Aortic arch aneurysm, Attention deficit hyperactivi... ORPHA:138
X Small Rings
Aortic root aneurysm ORPHA:96201
Au-Kline Syndrome
Attention deficit hyperactivity disorder, Aortic root aneurysm OMIM:616580
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Patent ductus arteriosus ORPHA:280633
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Aortic root aneurysm, Patent ductus arteriosus ORPHA:444077
Reactive Arthritis
Cartilage destruction, Enthesitis ORPHA:29207
Microphthalmia, Syndromic 2
Spastic paraparesis, Umbilical hernia, Contracture of the proximal interphalangeal joint of the 2... OMIM:300166
1P36 Deletion Syndrome
Tetralogy of Fallot, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:1606
Classical Ehlers-Danlos Syndrome
Dilatation of the cerebral artery, Arterial dissection, Aortic root aneurysm, Arteriovenous fistula ORPHA:287
Chromosome 1P36 Deletion Syndrome, Distal
Tetralogy of Fallot, Aortic root aneurysm, Patent ductus arteriosus OMIM:607872

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 Spart

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 Spart.

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

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MGI Allele Allele Type Produced
Sparttm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Sparttm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Sparttm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Sparttm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Sparttm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sparttm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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