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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
dilated aorta Sparttm2b(EUCOMM)Hmgu HOM Early adult 1.36×10-05
decreased exploration in new environment Sparttm2b(EUCOMM)Hmgu HOM Early adult 3.20×10-05
increased fasting circulating glucose level Sparttm2b(EUCOMM)Hmgu HOM Early adult 4.89×10-06
preweaning lethality, incomplete penetrance Sparttm2b(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

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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
Impaired vibration sensation at ankles, Flexion contracture, Ankle clonus, Spastic gait, Upper li... OMIM:275900
Autosomal Recessive Spastic Paraplegia Type 20
Spasticity, Ankle clonus, Spastic gait, Spastic dysarthria, Babinski sign, Spastic paraparesis, S... 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, Ascending aortic dissection, Descending aortic dissection OMIM:613780
Aortic Aneurysm, Familial Thoracic 6
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... OMIM:611788
Autosomal Recessive Spastic Paraplegia Type 43
Knee flexion contracture, Poor fine motor coordination, Spasticity, Spastic gait, Babinski sign, ... ORPHA:320370
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Achilles tendon contracture, Paraparesis, Hand tremor, Gait disturbance, Incoordina... OMIM:302800
Frontotemporal Dementia With Motor Neuron Disease
Fasciculations, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor function, Paraparesis,... ORPHA:275872
Cerebral Creatine Deficiency Syndrome 2
Rigidity, Paraparesis, Myoclonus, Decreased serum creatinine, Elevated circulating guanidinoaceti... OMIM:612736
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Paraparesis, Choreoathetosis, Myoclonus, Ataxia, Spastic para... ORPHA:726
Spastic Paraparesis-Deafness Syndrome
Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Spastic paraparesis, Impaired pain sensation ORPHA:2815
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation, Tremor ORPHA:99014
Familial Aortic Dissection
Patent ductus arteriosus, Aortic root aneurysm, Coronary artery atherosclerosis, Descending aorti... ORPHA:229
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... OMIM:615157
Lipodystrophy, Familial Partial, Type 3
Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous adipose tissue, ... OMIM:604367
Kufor-Rakeb Syndrome
Spasticity, Akinesia, Parkinsonism, Rigidity, Torticollis, Distal sensory impairment, Paraparesis... OMIM:606693
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Autosomal Dominant Cerebellar Ataxia
Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuro... ORPHA:99
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... OMIM:616053
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Cognitive impairment ORPHA:1705
Lesch-Nyhan Phenotype With Normal Hgprt
Spasticity, Choreoathetosis, Hyperuricemia OMIM:308950
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Distal sensory impairment, Steppage gait OMIM:302802
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Abnormal lower motor neuron morpho... OMIM:105550
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Inability to walk, Clumsiness, Paraparesis, Myoclonus, Ataxia, Lower limb spasticity,... OMIM:617854
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Gait ataxia, Chorea, Abnormal pyramidal sign, Inability to walk, Rigidity, Paraparesis, Babinski ... OMIM:607483
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Paresthesia, Gait disturbance ORPHA:2398
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm, Anxiety ORPHA:261102
Paraparetic Variant Of Guillain-Barré Syndrome
Impaired distal proprioception, Paraparesis ORPHA:231445
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Broad-based gait, Spastic paraparesis, Dysmetria, Unsteady gait,... ORPHA:423275
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Choreoathetosis, Ataxia, Tetraparesis, Hyperammonemia ORPHA:27
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Loss of subcutaneous adipose tissue in limbs, Loss of facial adipose tissue, Lipoa... ORPHA:79083
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Primary Angiitis Of The Central Nervous System
Parkinsonism, Hemiparesis, Paraparesis, Paralysis, Ataxia, Tetraparesis ORPHA:140989
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Gait disturbance, Ataxia ORPHA:67047
Lesch-Nyhan Syndrome
Spasticity, Hyperuricemia, Hemiplegia/hemiparesis ORPHA:510
Mast Syndrome
Dysdiadochokinesis, Apraxia, Gait disturbance, Incoordination, Spastic paraplegia, Spastic parapa... OMIM:248900
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Visceral angiomatosis, Lymphangioma, Cutaneous angiolipomas ORPHA:53721
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Ataxia ORPHA:3222
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Spastic Paraplegia 48, Autosomal Recessive
Tip-toe gait, Spastic gait, Parkinsonism, Ataxia, Spastic paraplegia, Spastic paraparesis, Dysmet... OMIM:613647
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Inability to walk, Gait disturbance, Spastic paraparesis, Tremor, Di... ORPHA:101077
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
Peroxisome Biogenesis Disorder 8B
Gait ataxia, Spasticity, Ankle clonus, Tip-toe gait, Elevated circulating phytanic acid concentra... OMIM:614877
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Truncal ataxia, Paraparesis, Limb ataxia, Elevated circul... OMIM:300100
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Action tremor, Hypercholesterolemia ORPHA:77296
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Progressive spastic paraparesis, Hemiparesis, Clumsiness, Paraparesi... ORPHA:43
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Hyperuricemia, Decreased plasma carnitine, Myoclonus, Hyperammonemia OMIM:246450
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary artery morphology, Aorto-vent... ORPHA:3400
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Spastic tetraplegia, Rigidity, Gait disturbance, Spastic paraparesis, Oromandibular... OMIM:615643
Spastic Ataxia 4, Autosomal Recessive
Gait ataxia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic paraparesis, Upper limb hyperton... OMIM:613672
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection OMIM:604308
Purine Nucleoside Phosphorylase Deficiency
Spasticity, Cerebral palsy, Ataxia, Spastic paraparesis, Abnormal central motor function, Neoplas... ORPHA:760
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spastic paraplegia, Progressive spastic paraparesis, Ankle clonus, Progressive spasti... ORPHA:506353
Aortic Valve Disease 2
Aortic tortuosity, Calcification of the aorta, Aortic aneurysm, Ascending aortic dissection, Coar... OMIM:614823
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Burkitt Lymphoma
Hyperuricemia, Neoplasm of the oral cavity ORPHA:543
Autosomal Dominant Spastic Paraplegia Type 73
Impaired vibration sensation in the lower limbs, Progressive spastic paraparesis, Progressive spa... ORPHA:444099
Spastic Paraplegia 75, Autosomal Recessive
Impaired distal vibration sensation, Spasticity, Abnormal pyramidal sign, Spastic gait, Spastic d... OMIM:616680
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Spastic gait, Truncal ataxia, Spastic di... OMIM:238970
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive gait ataxia, Myoclonus, Babinski sign, Spastic paraparesis, Upper limb hypertonia, Fr... ORPHA:254343
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Hsd10 Disease
Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Ataxia, Spastic paraparesis, Tremor ORPHA:391417
Lesch-Nyhan Syndrome
Spasticity, Hyperuricemia, Abnormality of extrapyramidal motor function, Choreoathetosis, Opistho... OMIM:300322
Glycogen Storage Disease Ixb
Hyperuricemia OMIM:261750
Congenital Heart Defects, Multiple Types, 7
Double aortic arch, Tetralogy of Fallot, Anxiety, Pulmonary artery atresia, Right aortic arch, Ao... OMIM:618780
Arnold-Chiari Malformation Type Ii
Somatic sensory dysfunction, Spasticity, Paraparesis, Ataxia, Paraplegia, Difficulty walking, Opi... ORPHA:1136
Spastic Paraplegia 20, Autosomal Recessive
Impaired vibration sensation at ankles, Flexion contracture, Ankle clonus, Spastic gait, Upper li... OMIM:275900
Beta-Ketothiolase Deficiency
Spasticity, Hyperuricemia, Extrapyramidal dyskinesia, Ataxia, Hyperammonemia ORPHA:134
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia OMIM:613092
Igg4-Related Aortitis
Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, Dilated left subclav... ORPHA:449400
Multisystemic Smooth Muscle Dysfunction Syndrome
Patent ductus arteriosus, Common carotid artery aneurysm, Aortic arch aneurysm, Vascular dilatati... OMIM:613834
Congenital Heart Defects, Multiple Types, 2
Aortic aneurysm, Tetralogy of Fallot OMIM:614980
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Abnormal aortic arch morphology ORPHA:1455
Late-Infantile/Juvenile Krabbe Disease
Tetraplegia, Spastic diplegia, Clumsiness, Impaired tactile sensation, Gait disturbance, Upper mo... ORPHA:206443
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Glycogen Storage Disease V
Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232600
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Anxiety OMIM:618970
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Abnormal circle of Willis morph... ORPHA:231160
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Hyperuricemia, Myoclonus, Ataxia, Spastic hemiparesis, Hyperammonemia ORPHA:20
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Ischemic stroke, Trans... ORPHA:91387
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia ORPHA:261222
Purine Nucleoside Phosphorylase Deficiency
Lymphoma, Spastic diplegia, Ataxia, Increased circulating guanosine concentration, Tremor, Tetrap... OMIM:613179
Myelopathy, Htlv-1-Associated
Spastic paraparesis, Abnormal pyramidal sign OMIM:159580
Primary Lateral Sclerosis
Somatic sensory dysfunction, Progressive spastic paraparesis, Spasticity, Spastic gait, Spastic d... ORPHA:35689
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia OMIM:613845
Neuroleptic Malignant Syndrome
Chorea, Hyperphosphatemia, Hyperuricemia, Oculogyric crisis, Hyperkalemia, Elevated circulating c... ORPHA:94093
Arachnoid Cyst
Paresthesia, Inability to walk, Hemiparesis, Paraparesis, Gait disturbance, Slurred speech, Tetra... ORPHA:2356
Bilateral Perisylvian Polymicrogyria
Distal arthrogryposis, Flexion contracture, Spasticity, Abnormality of neuronal migration, Perisy... ORPHA:98889
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus, Ataxia, Spastic pa... OMIM:614487
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Dystonia, Abnormality of extrapyram... ORPHA:79233
Alstrom Syndrome
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:203800
Cockayne Syndrome
Enamel hypoplasia, Somatic sensory dysfunction, Contractures of the large joints, Hyperuricemia, ... ORPHA:191
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Ataxia ORPHA:411543
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Hyperuricemia, Hydroxyprolinemia, Hyperphosphatemia OMIM:239000
Acute Transverse Myelitis
Somatic sensory dysfunction, Spasticity, Paresthesia, Abnormality of extrapyramidal motor functio... ORPHA:139417
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Fibromuscular Dysplasia, Arterial
Aortic dissection, Arterial fibromuscular dysplasia, Stroke OMIM:135580
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Dysdiadochokinesis, Spastic dysarthria, Oculomotor apraxia, Myoclonus, Ataxia, Spasti... ORPHA:313772
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Aggressive behavior ORPHA:329249
Loeys-Dietz Syndrome 6
Abdominal aortic aneurysm, Vertebral artery aneurysm, Carotid artery dissection, Carotid artery d... OMIM:619656
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Parkinsonism, Progressive spasticity, Abnormality of extrapyramidal motor func... ORPHA:2822
Neurofibromatosis, Familial Spinal
Spinal neurofibromas, Paraparesis, Neurofibromas, Plexiform neurofibroma, Symmetric spinal nerve ... OMIM:162210
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Combined Deficiency Of Factor V And Factor Viii
Hyperuricemia, Hyperlipidemia ORPHA:35909
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Neonatal death, Coarctation of aorta OMIM:601612
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Shuffling gait, Parkinsonism, Rigidity, Hand tremor, Gait disturbance, Babinski sign,... ORPHA:289560
Leukodystrophy, Hypomyelinating, 2
Progressive spasticity, Rigidity, Choreoathetosis, Ataxia, Babinski sign, Spastic paraparesis, He... OMIM:608804
Hypermanganesemia With Dystonia 1
Poor fine motor coordination, Hypermanganesemia, Increased total iron binding capacity, Parkinson... OMIM:613280
Ollier Disease
Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Abnormal cartilage mor... ORPHA:296
Fragile X Syndrome
Ascending tubular aorta aneurysm, Self-injurious behavior, Anxiety ORPHA:908
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Ascending tubular aorta aneurysm, Ascending aortic dissection OMIM:619825
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Decreased circulating cortisol level, Pituitary adenoma, Hyperkalemia, Hypercalcem... ORPHA:199299
Developmental And Epileptic Encephalopathy 82
Spastic paraparesis, Hyperammonemia, Spastic tetraplegia, Inability to walk OMIM:618721
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Adult Krabbe Disease
Hoffmann sign, Somatic sensory dysfunction, Progressive spastic paraparesis, Spasticity, Clumsine... ORPHA:206448
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... ORPHA:363654
Poliomyelitis
Paresthesia, Inability to walk, Paraparesis, Paralysis, Hyperkinetic movements, Fasciculations ORPHA:2912
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Babinski sign, Spastic paraparesis, Impaired proprioception, Difficulty walking, Impaired vibrato... OMIM:500013
Molybdenum Cofactor Deficiency, Complementation Group C
Limb hypertonia, Hypertaurinemia, Polymicrogyria, Hypertonia, Hypocystinemia, Hypouricemia OMIM:615501
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia ORPHA:329284
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Wilson Disease
Rigidity, Limb dystonia, Decreased circulating ceruloplasmin concentration, Increased circulating... OMIM:277900
Glycogen Storage Disease Ia
Hyperuricemia, Hepatocellular carcinoma, Hyperlipidemia, Xanthelasma OMIM:232200
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Spasticity, Ataxia, Babinski sign, Spastic paraparesis, Spastic tetrapa... ORPHA:3208
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis, Hypercalcemia OMIM:602080
Temtamy Syndrome
Aortic aneurysm, Self-mutilation OMIM:218340
Coasy Protein-Associated Neurodegeneration
Spastic paraparesis, Difficulty walking, Oromandibular dystonia, Parkinsonism ORPHA:397725
Rin2 Syndrome
Aortic aneurysm, Cognitive impairment ORPHA:217335
Cerebrotendinous Xanthomatosis
Somatic sensory dysfunction, Spasticity, Abnormal pyramidal sign, Resting tremor, Parkinsonism, P... ORPHA:909
Farber Disease
Spasticity, Paraparesis, Flexion contracture, Myoclonus ORPHA:333
Prune1-Related Neurological Syndrome
Inability to walk, Elevated circulating creatine kinase concentration, Spastic paraparesis, Spast... ORPHA:544469
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Flexion contracture of digit, Reduced subcutaneous adipose tissue, Hand tremor, Spastic parapares... ORPHA:3041
Glycogen Storage Disease Ib
Hyperuricemia, Hepatocellular carcinoma, Hyperlipidemia, Xanthelasma OMIM:232220
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Ataxia OMIM:300661
Phace Association
Patent ductus arteriosus, Anomalous branches of internal carotid artery, Vascular dilatation, Aor... OMIM:606519
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Prominent superficial veins, Coronary artery atherosclerosis, Insulin-resistant di... OMIM:608600
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypophosphatemia, Hypouricemia, Hypokalemia OMIM:227810
Acute Adrenal Insufficiency
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin le... ORPHA:95409
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Coronary artery atherosclerosis, Abdominal aortic ane... OMIM:617168
Cardiomyopathy, Familial Restrictive, 3
Aortic aneurysm OMIM:612422
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Hepatocellular adenoma, Hepatocellular carcinoma, Xanthelasma, Hyperlipidemia, Hyp... ORPHA:79259
Oculodentodigital Dysplasia
Enamel hypoplasia, Spasticity, Paraparesis, Ataxia, Tetraparesis, Joint contracture of the 5th fi... OMIM:164200
Hyperuricemia, Hprt-Related
Hyperuricemia OMIM:300323
Takayasu Arteritis
Vasculitis, Ascending tubular aorta aneurysm, Vascular dilatation, Arterial stenosis ORPHA:3287
Lethal Ataxia With Deafness And Optic Atrophy
Tetraplegia, Ataxia, Hypouricemia ORPHA:1187
Xanthinuria, Type Ii
Hypouricemia, Hyperxanthinemia, Increased circulating hypoxanthine concentration OMIM:603592
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:411536
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Addison Disease
Thymoma, Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating... ORPHA:85138
Cystinuria
Hyperuricemia ORPHA:214
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hemiparesis, Paraparesis, Paraplegia ORPHA:79124
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Hand tremor, Gait disturbance, Babinski sign, Spastic paraparesis, Steppage gai... ORPHA:101076
Gaisböck Syndrome
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... ORPHA:90041
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes OMIM:610582
Sjogren-Larsson Syndrome
Spastic paraparesis, Enamel hypoplasia, Spasticity, Flexion contracture OMIM:270200
Medullary cystic kidney disease 2
Hyperuricemia OMIM:603860
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
Glycogen Storage Disease Ic
Hyperuricemia, Hepatocellular carcinoma, Hepatoblastoma, Hyperlipidemia, Xanthelasma OMIM:232240
Leukodystrophy, Hypomyelinating, 3
Spastic paraparesis, Abnormal pyramidal sign, Joint contracture, Appendicular spasticity OMIM:260600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Multiple Carboxylase Deficiency
Spastic paraparesis, Hyperammonemia, Ataxia ORPHA:148
Conotruncal Heart Malformations
Double outlet right ventricle, Transposition of the great arteries, Truncus arteriosus, Coarctati... OMIM:217095
Pelizaeus-Merzbacher Disease In Female Carriers
Inability to walk, Gait disturbance, Babinski sign, Spastic paraparesis, Difficulty walking, Hand... ORPHA:280229
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia OMIM:300894
Seckel Syndrome 10
Abdominal aortic aneurysm, Impaired glucose tolerance, Glycosuria, Insulin resistance, Diabetes m... OMIM:617253
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Hypoplastic pulmonary veins, Coarctation of aorta, Total anomalous... OMIM:613854
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Overriding aorta, Aortic aneurysm, Persistent left superior vena cava ORPHA:477817
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Alexander Disease Type Ii
Spasticity, Palatal tremor, Rigidity, Ataxia, Babinski sign, Spastic paraparesis ORPHA:363722
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Aortic aneurysm OMIM:620070
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Gaucher Disease, Type Iii
Spastic paraparesis, Myoclonus, Ataxia OMIM:231000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Poor fine motor coordination, Increased total iron binding capacity, Hyperglycinemia, Dysdiadocho... ORPHA:309854
Encephalocraniocutaneous Lipomatosis
Multiple lipomas, Spasticity, Hemiparesis, Rigidity, Paralysis, Visceral angiomatosis, Capillary ... ORPHA:2396
Rift Valley Fever
Hemiparesis, Paraparesis, Paralysis, Decerebrate rigidity ORPHA:319251
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraplegia, Progressive spastic paraparesis, Falls, Progressive gait ataxia, ... ORPHA:329308
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraplegia, Myoclonic spasms, Spastic tetraparesis, Opisthotonus, Hypouricemia OMIM:252150
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal cell carcinoma, Hyperuricemia, Papillary cystadenoma of the epididymis ORPHA:93111
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemia OMIM:614227
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
Hypomagnesemia 3, Renal
Hyperuricemia, Hypomagnesemia OMIM:248250
Igg4-Related Pachymeningitis
Somatic sensory dysfunction, Paraparesis, Elevated circulating C-reactive protein concentration ORPHA:449427
Molybdenum Cofactor Deficiency, Complementation Group B
Spastic tetraplegia, Myoclonic spasms, Hypertonia, Opisthotonus, Hypouricemia OMIM:252160
Arterial Tortuosity Syndrome
Aortic root aneurysm, Vascular dilatation, Abnormal carotid artery morphology, Aortic aneurysm, A... ORPHA:3342
Loeys-Dietz Syndrome 4
Aortic tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, Arterial tortuosity, A... OMIM:614816
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Camptodactyly, Incoordination, Ataxia, Spastic paraparesis, Arthrogryposis-like hand anomaly, Umb... ORPHA:369891
Waardenburg Syndrome, Type 4A
Spastic paraparesis, Ataxia OMIM:277580
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Cerebral arteriovenous malformation, Pulmonary arteriovenous ... OMIM:175050
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Left superior vena cava draining directl... OMIM:619657
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Spastic paraparesis, Broad-based gait, Dorsocervical fat pad ORPHA:391408
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia, Reduced sperm motility OMIM:137920
Loeys-Dietz Syndrome 2
Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Aortic arch aneurysm, ... OMIM:610168
Combined Oxidative Phosphorylation Defect Type 7
Abnormal pyramidal sign, Inability to walk, Ataxia, Spastic paraparesis, Impaired tandem gait, Di... ORPHA:254930
Congenital Contractural Arachnodactyly
Aortic aneurysm ORPHA:115
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Vascular dilatation, Aortic aneurysm, Arterial dissection, Aortic dissection, Abnormal venous mor... ORPHA:1900
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low frustration tolerance, Aggressive behavior, Ascending tubular aorta aneurysm, Emotional lability OMIM:309520
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Truncal ataxia, Palatal tremor, Spastic paraparesis OMIM:113610
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Macs Syndrome
Aortic aneurysm, Dilation of Virchow-Robin spaces OMIM:613075
Epidermal Nevus Syndrome
Progressive spastic paraparesis, Spinal cord tumor, Babinski sign, Lipoma, Hypertonia, Rhabdomyos... ORPHA:35125
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm, Aggressive behavior, Self-injurious behavior, Diabetes mellitus, Anxiety, I... ORPHA:449291
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Hypoglycemia, Aortic aneurysm, Intracranial hemorrhage ORPHA:109
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Aortopu... ORPHA:99050
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Split Cord Malformation
Paraparesis, Spinal cord tumor, Capillary hemangioma, Teratoma, Lipoma ORPHA:573278
Fructose Intolerance, Hereditary
Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia OMIM:229600
Hereditary Xanthinuria
Hyperxanthinemia, Hypouricemia ORPHA:3467
Autosomal Recessive Spastic Paraplegia Type 55
Poor fine motor coordination, Spasticity, Babinski sign, Spastic paraparesis, Lower limb spastici... ORPHA:320375
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Stroke, Coronary artery stenosis OMIM:615812
Autosomal Recessive Multiple Pterygium Syndrome
Aortic aneurysm, Cognitive impairment ORPHA:2990
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Cystathioninemia, Hemiparesis, Hyperhomocystinemia, Gait disturbance, Hypomethioninemia, Ataxia, ... ORPHA:395
Giant Cell Arteritis
Abdominal aortic aneurysm, Aortic dissection, Double outlet right ventricle with subpulmonary ven... ORPHA:397
Aicardi-Goutières Syndrome
Spasticity, Abnormal pyramidal sign, Chronic lymphatic leukemia, Multiple joint contractures, Spa... ORPHA:51
Monosomy 18Q
Patent ductus arteriosus, Aortic aneurysm, Left aortic arch with right descending aorta and right... ORPHA:1600
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... ORPHA:552
7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aggressive behavior, Self-injurious behavior, Aortic aneurysm, Anxiety ORPHA:96121
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia OMIM:616026
Lateral Meningocele Syndrome
Patent ductus arteriosus, Aortic aneurysm OMIM:130720
Foix-Alajouanine Syndrome
Somatic sensory dysfunction, Progressive spastic paraparesis, Paresthesia, Gait imbalance, Dysest... ORPHA:79093
Fixed Subaortic Stenosis
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Coarctation of aorta ORPHA:3092
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia ORPHA:94088
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic tetraparesis, Progressive spastic paraparesis, Spastic ataxia ORPHA:496756
Alport Syndrome
Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
Loeys-Dietz Syndrome 3
Aortic tortuosity, Abdominal aortic aneurysm, Patent ductus arteriosus, Tortuous cerebral arterie... OMIM:613795
Alkaptonuria
Aortic aneurysm, Coronary artery calcification OMIM:203500
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Pulmonary artery dilatation OMIM:620067
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Transposition of the great arteries, Cerebral cavernous malformation OMIM:619910
Familial Renal Glucosuria
Glycosuria, Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia ORPHA:69076
Autosomal Recessive Spastic Paraplegia Type 20
Spasticity, Ankle clonus, Spastic gait, Spastic dysarthria, Babinski sign, Spastic paraparesis, S... ORPHA:101000
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... ORPHA:411634
Osteogenesis Imperfecta, Type I
Aortic aneurysm OMIM:166200
Loeys-Dietz Syndrome
Patent ductus arteriosus, Vascular dilatation, Aortic aneurysm, Arterial dissection, Arterial tor... ORPHA:60030
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cognitive impairment, Transient ischemic attack, Thoracic aortic aneurysm, Dilatation of the cere... ORPHA:365
Eisenmenger Syndrome
Abnormal B-type natriuretic peptide concentration, Hyperuricemia, Elevated circulating C-reactive... ORPHA:97214
Loeys-Dietz Syndrome 1
Aortic root aneurysm, Patent ductus arteriosus, Pulmonary artery aneurysm, Dilatation of the duct... OMIM:609192
Kniest Dysplasia
Hip contracture, Gait disturbance, Inguinal hernia, Abnormal cartilage collagen, Umbilical hernia OMIM:156550
Shprintzen-Goldberg Craniosynostosis Syndrome
Aortic aneurysm OMIM:182212
Cutis Laxa, Autosomal Recessive, Type Ia
Ascending tubular aorta aneurysm, Vascular tortuosity OMIM:219100
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Thoracic aorta calcification, Ascending aortic dissection, Coarctation of a... ORPHA:402075
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Aggressive behavior OMIM:301039
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aggressive behavior, Cognitive impairment, Suicidal ideation, Aortic aneurysm, Emotional lability... OMIM:619475
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Aggressive behavior, Patent ductus arteriosus, Anxiety ORPHA:404443
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic root aneurysm, Stroke, Ascending tubular aorta aneurysm, Thoracic aortic aneurysm ORPHA:536467
Chromosome 18Q Deletion Syndrome
Patent ductus arteriosus, Ascending tubular aorta aneurysm OMIM:601808
Argininemia
Spastic gait, Progressive spastic quadriplegia, Spastic paraparesis, Hyperammonemia, Hyperarginin... OMIM:207800
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Persistent left superior vena cava OMIM:609008
Say-Barber-Miller Syndrome
Knee flexion contracture, Ankle clonus, Lingual dystonia, Impaired neutrophil chemotaxis, Elbow f... ORPHA:3132
Distal 22Q11.2 Microdeletion Syndrome
Aortic aneurysm, Truncus arteriosus ORPHA:261330
Meester-Loeys Syndrome
Aortic root aneurysm, Ascending tubular aorta aneurysm, Pulmonary artery aneurysm, Dilatation of ... OMIM:300989
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic tetraplegia, Torticollis, Myoclonus, Ataxia, Spastic paraparesis, Distal sens... OMIM:609136
Tuberous Sclerosis Complex
Aggressive behavior, Self-injurious behavior, Aortic aneurysm, Anxiety, Pulmonary lymphangiomyoma... ORPHA:805
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Pachygyria, Arthrogryposis multiplex congenita, Lissencephaly ORPHA:86822
Heterotaxy, Visceral, 5, Autosomal
Patent ductus arteriosus, Double outlet right ventricle, Ascending tubular aorta aneurysm, Partia... OMIM:270100
Oculodentodigital Dysplasia
Camptodactyly of finger, Spasticity, Gait disturbance, Ataxia, Spastic paraparesis, Umbilical her... ORPHA:2710
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Spastic paraparesis, Bilateral camptodactyly, Umbilical hernia OMIM:619234
Marfan Syndrome
Aortic tortuosity, Ascending tubular aorta aneurysm, Descending aortic dissection, Arterial disse... ORPHA:558
Aneurysm-Osteoarthritis Syndrome
Abdominal aortic aneurysm, Patent ductus arteriosus, Vascular dilatation, Arterial dissection, Ar... ORPHA:284984
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Subdural hemorrhage, Aortic aneurysm, Cerebral hemorrhage ORPHA:536545
Koolen-De Vries Syndrome Due To A Point Mutation
Intraventricular hemorrhage, Aortic aneurysm, Anxiety ORPHA:363965
17Q21.31 Microdeletion Syndrome
Intraventricular hemorrhage, Aortic aneurysm, Anxiety ORPHA:363958
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Panic attack, Anxiety OMIM:145420
Adrenomyeloneuropathy
Progressive spastic paraparesis, Spasticity, Spastic gait, Abnormal circulating fatty-acid concen... ORPHA:139399
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
Primary Fanconi Renotubular Syndrome
Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Hypophosphatemic rickets, Bicarbonatur... ORPHA:3337
Autosomal Dominant Cutis Laxa
Aortic aneurysm, Coarctation of aorta, Peripheral pulmonary artery stenosis, Dilatation of the ve... ORPHA:90348
Osteogenesis Imperfecta
Aortic root aneurysm, Cerebral hemorrhage, Aortic aneurysm, Arterial dissection, Aortic dissection ORPHA:666
Hurler Syndrome
Camptodactyly of finger, Abnormal pyramidal sign, Hernia, Cerebral palsy, Spastic paraparesis ORPHA:93473
Boudin-Mortier Syndrome
Aortic root aneurysm OMIM:619543
Arterial Tortuosity Syndrome
Aortic tortuosity, Aortic root aneurysm, Ischemic stroke, Carotid artery dissection, Generalized ... OMIM:208050
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Thoracic aortic aneurysm OMIM:619351
Larsen Syndrome
Aortic aneurysm OMIM:150250
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Double outlet right ventricle, Congenitally corrected transposition of ... OMIM:619702
Vascular Ehlers-Danlos Syndrome
Ascending tubular aorta aneurysm, Cognitive impairment, Pulmonary artery aneurysm, Vascular dilat... ORPHA:286
Biotinidase Deficiency
Spastic paraparesis, Hyperammonemia, Ataxia ORPHA:79241
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ascending tubular aorta aneurysm ORPHA:453499
Fontaine Progeroid Syndrome
Patent ductus arteriosus, Neonatal death, Aortic aneurysm, Prominent superficial veins OMIM:612289
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm ORPHA:3093
Kawasaki Disease
Irritability, Ascending tubular aorta aneurysm, Double outlet right ventricle with subpulmonary v... ORPHA:2331
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle, Flexion contracture, Leukemia OMIM:227645
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Carotid artery stenosis, Prominent superficial veins OMIM:618000
Lethal Kniest-Like Dysplasia
Abnormal cartilage matrix, Abnormal cartilage morphology ORPHA:2347
Cap Myopathy
Aortic root aneurysm ORPHA:171881
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix OMIM:245650
Scheie Syndrome
Spastic paraparesis, Cerebral palsy ORPHA:93474
Laubry-Pezzi Syndrome
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Dilatation of the sinus of Valsalva, ... ORPHA:99094
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Cartilage destruction, Elevated circulating C-reactive ... ORPHA:829
Eales Disease
Spastic paraparesis ORPHA:40923
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm ORPHA:444072
Spondylodysplastic Ehlers-Danlos Syndrome
Ascending tubular aorta aneurysm, Prominent scalp veins 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
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Aortic root aneurysm, Patent ductus arteriosus, Coarctation of aorta, Hypoplastic aortic arch, Pe... OMIM:617506
Koolen-De Vries Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Anxiety, Conspicuously happy disposition OMIM:610443
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Type II diabetes mellitus, Irritability OMIM:618891
Viss Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Aortic tortuosity, Tortuous cerebral arteries, As... OMIM:619472
Marfan Syndrome
Aortic root aneurysm, Aortic dissection, Ascending tubular aorta aneurysm, Pulmonary artery dilat... OMIM:154700
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Aortic atherosclerotic lesion, Intracranial hemorrhage, Abnormality of the ... ORPHA:363618
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm OMIM:130000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Self-injurious behavior, Truncus arte... OMIM:612474
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Coarctation of aorta OMIM:617602
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Patent ductus arteriosus OMIM:121050
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Carotid artery stenosis, Diabetes mellitus, Varicose veins, Prominent veins... ORPHA:536532
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle, Leukemia OMIM:600901
Spondyloepiphyseal Dysplasia Tarda
Paresthesia, Abnormal cartilage morphology ORPHA:93284
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle, Leukemia OMIM:227650
Cutis Laxa, Autosomal Recessive, Type Ib
Aortic root aneurysm, Pulmonary artery aneurysm, Vascular tortuosity, Pulmonary artery dilatation... OMIM:614437
Autosomal Dominant Polycystic Kidney Disease
Aortic root aneurysm, Dilatation of the cerebral artery, Abnormal systemic arterial morphology ORPHA:730
Phace Syndrome
Aortic root aneurysm, Abnormal cerebral artery morphology, Abnormal carotid artery morphology, Ce... ORPHA:42775
Kniest Dysplasia
Abnormal cartilage collagen, Flexion contracture of finger ORPHA:485
Immunodeficiency 23
Aortic root aneurysm, Vasculitis in the skin OMIM:615816
Moderate Hemophilia A
Cartilage destruction, Hip contracture ORPHA:169805
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm ORPHA:230851
Sotos Syndrome
Patent ductus arteriosus, Aggressive behavior, Aortic aneurysm, Neonatal hypoglycemia, Anxiety ORPHA:821
Cockayne Syndrome Type 3
Aortic root aneurysm, Cognitive impairment, Premature coronary artery atherosclerosis, Subdural h... ORPHA:90324
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Aortic arch aneurysm, Type II diabetes mellitus, Arterial dissection, Coarctati... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Aortic arch aneurysm, Type II diabetes mellitus, Arterial dissection, Coarctati... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Aortic arch aneurysm, Type II diabetes mellitus, Arterial dissection, Coarctati... ORPHA:99228
Monosomy X
Hyperinsulinemia, Aortic arch aneurysm, Type II diabetes mellitus, Arterial dissection, Coarctati... ORPHA:99226
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle, Leukemia OMIM:227646
Blau Syndrome
Large vessel vasculitis, Aortic aneurysm ORPHA:90340
Juvenile Idiopathic Arthritis
Cartilage destruction ORPHA:92
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm OMIM:616914
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm OMIM:615349
Zimmermann-Laband Syndrome 1
Aortic root aneurysm, Aortic arch aneurysm, Patent ductus arteriosus OMIM:135500
Cutis Laxa, Autosomal Recessive, Type Iid
Ascending tubular aorta aneurysm OMIM:617403
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Ascending aortic dissection OMIM:615582
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm OMIM:245600
Opitz Gbbb Syndrome
Aortic root aneurysm, Coarctation of aorta, Persistent left superior vena cava, Patent ductus art... ORPHA:2745
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortic root aneurysm, Pulmonary artery hypoplasia, Aortopulmonary collateral arteries, Aortopulmo... OMIM:620025
Multiple Osteochondromas
Somatic sensory dysfunction, Chondrosarcoma, Scapular exostoses, Rib exostoses, Osteochondroma, A... ORPHA:321
Williams Syndrome
Patent ductus arteriosus, Aortic arch aneurysm, Abnormal carotid artery morphology, Abnormal cere... ORPHA:904
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Aortic root aneurysm, Peripheral pulmonary artery stenosis, Patent ductus arteriosus ORPHA:280633
Restrictive Dermopathy
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transposition of the great arteries ORPHA:1662
X Small Rings
Aortic root aneurysm ORPHA:96201
1P36 Deletion Syndrome
Patent ductus arteriosus, Aortic arch aneurysm, Tetralogy of Fallot, Self-injurious behavior ORPHA:1606
Charge Syndrome
Patent ductus arteriosus, Interrupted aortic arch, Aortic arch aneurysm, Tetralogy of Fallot ORPHA:138
Hypermobile Ehlers-Danlos Syndrome
Ascending tubular aorta aneurysm, Arterial dissection, Venous insufficiency ORPHA:285
Reactive Arthritis
Enthesitis, Cartilage destruction ORPHA:29207
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Aortic root aneurysm, Patent ductus arteriosus ORPHA:444077
Au-Kline Syndrome
Aortic root aneurysm OMIM:616580
Microphthalmia, Syndromic 2
Flexion contracture, Contracture of the proximal interphalangeal joint of the 3rd toe, Spastic pa... OMIM:300166
Alkaptonuria
Cartilage destruction, Calcification of cartilage ORPHA:56
Chromosome 1P36 Deletion Syndrome, Distal
Aortic root aneurysm, Patent ductus arteriosus, Aggressive behavior, Tetralogy of Fallot, Self-mu... OMIM:607872
Classical Ehlers-Danlos Syndrome
Aortic root aneurysm, Arterial dissection, Dilatation of the cerebral artery, 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 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
Sparttm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sparttm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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