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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
dilated aorta Sparttm2b(EUCOMM)Hmgu HOM Early adult 1.36×10-05
preweaning lethality, incomplete penetrance Sparttm2b(EUCOMM)Hmgu HOM   Early adult 0.00958
decreased exploration in new environment Sparttm2b(EUCOMM)Hmgu HOM Early adult 3.20×10-05

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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
Lower limb spasticity, Flexion contracture, Babinski sign, Spastic paraplegia, Dysmetria, Ankle c... OMIM:275900
Autosomal Recessive Spastic Paraplegia Type 20
Impaired vibratory sensation, Speech apraxia, Babinski sign, Slurred speech, Spastic dysarthria, ... 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
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,... ORPHA:320370
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Paraparesis, Rigidity, Hypertonia, Myoclonus, Decreased se... OMIM:612736
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Achilles tendon contracture, Babinski sign, Dysmetria, Dista... OMIM:302800
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Spastic Paraparesis-Deafness Syndrome
Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Spastic paraparesis ORPHA:2815
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Dystonia, Ataxia, Incoordination, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... ORPHA:229
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Paraparesis, Rigidity, Babinski sign, Spasti... OMIM:606693
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, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity, Hyperuricemia OMIM:308950
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Cognitive impairment ORPHA:1705
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Truncal titubation, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Rigidity, Inabil... OMIM:607483
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Steppage gait, Distal sensory impairment OMIM:302802
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... OMIM:617854
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Attention deficit hyperactivity disorder, Aortic aneurysm ORPHA:261102
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Paresthesia, Gait disturbance ORPHA:2398
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Hyperammonemia, Choreoathetosis, Tetraparesis ORPHA:27
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Hyperuricemia, L... ORPHA:79083
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Mast Syndrome
Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Gai... OMIM:248900
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Lesch-Nyhan Syndrome
Hemiplegia/hemiparesis, Spasticity, Hyperuricemia ORPHA:510
Phosphoribosylpyrophosphate Synthetase Superactivity
Ataxia, Hyperuricemia ORPHA:3222
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... ORPHA:101077
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Spastic Paraplegia 48, Autosomal Recessive
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Tip... OMIM:613647
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Hyperglutamatemia, Generalized dystonia, Cerebral palsy, Spastic tetraparesis, Pa... OMIM:620358
Spinal Arteriovenous Metameric Syndrome
Cutaneous angiolipomas, Visceral angiomatosis, Paraparesis ORPHA:53721
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Peroxisome Biogenesis Disorder 8B
Lower limb spasticity, Ataxia, Clonus, Dysesthesia, Rigidity, Babinski sign, Elevated circulating... OMIM:614877
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia, Ele... OMIM:300100
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia, Action tremor ORPHA:77296
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... ORPHA:43
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Depression, Right aortic arch, Pulmonary artery atresia, Tetr... OMIM:618780
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity OMIM:616166
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert... OMIM:613672
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Dystonia, Oromandibu... OMIM:615643
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Hyperuricemia, Hyperammonemia, Myoclonus OMIM:246450
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm OMIM:604308
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Hypouricemia, Ataxia, Cerebral palsy, Hypertonia, Neoplasm, Spas... ORPHA:760
Lesch-Nyhan Syndrome
Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, Hyperuricemia, Dysto... OMIM:300322
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Ankle clonus, Progressi... ORPHA:506353
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Spastic Paraplegia 75, Autosomal Recessive
Impaired distal vibration sensation, Abnormal pyramidal sign, Babinski sign, Dysmetria, Spastic d... OMIM:616680
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Burkitt Lymphoma
Neoplasm of the oral cavity, Hyperuricemia ORPHA:543
Autosomal Dominant Spastic Paraplegia Type 73
Lower limb spasticity, Progressive spastic paraparesis, Babinski sign, Impaired vibration sensati... ORPHA:444099
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... OMIM:614823
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Truncal ataxia,... OMIM:238970
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Progressive gait ataxia, Lower limb hypertonia, Myo... ORPHA:254343
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis ORPHA:391417
Glycogen Storage Disease Ixb
Hyperuricemia OMIM:261750
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Beta-Ketothiolase Deficiency
Ataxia, Hyperammonemia, Hyperuricemia, Extrapyramidal dyskinesia, Spasticity ORPHA:134
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Spastic Paraplegia 20, Autosomal Recessive
Lower limb spasticity, Flexion contracture, Babinski sign, Spastic paraplegia, Dysmetria, Ankle c... OMIM:275900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia OMIM:613092
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Aortic aneurysm OMIM:614980
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Paraparesis, Flexion contracture, Perisylvian predominant thick cortex pac... ORPHA:98889
Glycogen Storage Disease V
Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232600
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... ORPHA:91387
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Spastic hemiparesis, Hyperammonemia, Myoclonus, Hyperuricemia, Spasticity ORPHA:20
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia ORPHA:261222
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hypouricemia, Increased circulating guanosine concentration, Tremor, Lymphoma, Spastic di... OMIM:613179
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Neuroleptic Malignant Syndrome
Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio... ORPHA:94093
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Somatic sensory dysfunction, Ataxia, Cryptorchidism, Inabili... ORPHA:191
Arachnoid Cyst
Paraparesis, Inability to walk, Slurred speech, Distal sensory impairment, Hemiparesis, Neoplasm,... ORPHA:2356
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, ... OMIM:614487
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Abnormality of extrapyramidal motor... ORPHA:79233
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:203800
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Ataxia, Hyperuricemia ORPHA:411543
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Macular scar OMIM:239000
Acute Transverse Myelitis
Impaired vibratory sensation, Somatic sensory dysfunction, Decreased circulating copper concentra... ORPHA:139417
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Dystonia, Oculomotor apraxi... ORPHA:313772
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
Developmental And Epileptic Encephalopathy 82
Inability to walk, Spastic tetraplegia, Hyperammonemia, Spastic paraparesis OMIM:618721
Loeys-Dietz Syndrome 6
Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a... OMIM:619656
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Lis... OMIM:162210
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Parkinsonism, Paraparesis, Inability to walk, Abnormality of extrapyramidal motor functio... ORPHA:2822
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Leukodystrophy, Hypomyelinating, 2
Dystonia, Ataxia, Head titubation, Rigidity, Babinski sign, Choreoathetosis, Progressive spastici... OMIM:608804
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gai... ORPHA:289560
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Pituitary adenoma, Hyperkalemi... ORPHA:199299
Aortic Aneurysm, Familial Thoracic 12
Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic dissection OMIM:619825
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Mitochondrial hypertrophy, Babinski sign, Impaired proprioception, ... OMIM:500013
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi... OMIM:613280
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Poliomyelitis
Paralysis, Paraparesis, Inability to walk, Hyperkinetic movements, Paresthesia, Fasciculations ORPHA:2912
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Spastic paraparesis ORPHA:329284
Molybdenum Cofactor Deficiency, Complementation Group C
Hypouricemia, Limb hypertonia, Hypertonia, Hypertaurinemia, Polymicrogyria, Hypocystinemia OMIM:615501
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Abnormal cartilage morphology, Multiple enchondromatosis, ... ORPHA:296
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Spastic tetraparesis, Babinski sign, Knee flexion contracture, Lower limb hypertonia, Spa... ORPHA:3208
Coasy Protein-Associated Neurodegeneration
Oromandibular dystonia, Parkinsonism, Difficulty walking, Spastic paraparesis ORPHA:397725
Phosphoribosylpyrophosphate Synthetase Superactivity
Cryptorchidism, Ataxia, Hyperuricemia OMIM:300661
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Unsteady gait, Dysmetria, Hand tremor, Flexion contracture o... ORPHA:3041
Cerebrotendinous Xanthomatosis
Resting tremor, Somatic sensory dysfunction, Dystonia, Ataxia, Parkinsonism, Paraparesis, Babinsk... 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
Farber Disease
Paraparesis, Spasticity, Flexion contracture, Myoclonus ORPHA:333
Adult Krabbe Disease
Somatic sensory dysfunction, Broad-based gait, Ataxia, Progressive spastic paraparesis, Hoffmann ... ORPHA:206448
Prune1-Related Neurological Syndrome
Elevated circulating creatine kinase concentration, Spastic tetraparesis, Clonus, Inability to wa... ORPHA:544469
Rin2 Syndrome
Cognitive impairment, Aortic aneurysm ORPHA:217335
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Poor motor coordinatio... OMIM:277900
Fragile X Syndrome
Ascending tubular aorta aneurysm, Attention deficit hyperactivity disorder ORPHA:908
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Increased circul... ORPHA:95409
Cardiomyopathy, Familial Restrictive, 3
Aortic aneurysm OMIM:612422
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Primary testicular failure, Hypercalcemia, Hy... ORPHA:85138
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Oculodentodigital Dysplasia
Ataxia, Paraparesis, Spasticity, Joint contracture of the 5th finger, Tetraparesis, Enamel hypopl... OMIM:164200
Takayasu Arteritis
Ascending tubular aorta aneurysm, Vasculitis, Arterial stenosis, Vascular dilatation ORPHA:3287
Hyperuricemia, Hprt-Related
Hyperuricemia OMIM:300323
Xanthinuria, Type Ii
Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia OMIM:603592
Lethal Ataxia With Deafness And Optic Atrophy
Tetraplegia, Hypouricemia, Ataxia ORPHA:1187
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Cystinuria
Hyperuricemia ORPHA:214
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:411536
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosem... OMIM:227810
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Spastic paraparesis OMIM:300894
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Babinski sign, Hand tremor, Distal sensory impairment, Steppage gait, Gait dist... ORPHA:101076
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hemiparesis, Paraparesis, Paraplegia ORPHA:79124
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia ORPHA:79259
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture, Spasticity, Spastic paraparesis OMIM:270200
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s... OMIM:105210
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Joint contracture, Abnormal pyramidal sign, Spastic paraparesis OMIM:260600
Temtamy Syndrome
Aortic aneurysm OMIM:218340
Medullary cystic kidney disease 2
Hyperuricemia OMIM:603860
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Seckel Syndrome 10
Diabetes mellitus, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Glycosuri... OMIM:617253
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... OMIM:613854
Glycogen Storage Disease Ic
Hepatoblastoma, Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Aortic aneurysm OMIM:620070
Pelizaeus-Merzbacher Disease In Female Carriers
Lower limb spasticity, Inability to walk, Babinski sign, Gait disturbance, Difficulty walking, Sp... ORPHA:280229
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Overriding aorta, Persistent left superior vena cava, Aortic aneurysm ORPHA:477817
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor ORPHA:363722
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Ataxia, Cryptorchidism, Arthrogryposis-like hand anomaly, Spastic paraparesis, Um... ORPHA:369891
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Progressive spastic paraparesis, Progressive spastic quadriplegia, Progress... ORPHA:329308
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Rigidity, Truncal ataxia,... ORPHA:309854
Gaucher Disease, Type Iii
Ataxia, Myoclonus, Spastic paraparesis OMIM:231000
Encephalocraniocutaneous Lipomatosis
Lipodystrophy, Neoplasm of the skeletal system, Paralysis, Rigidity, Visceral angiomatosis, Abnor... ORPHA:2396
Hypomagnesemia 3, Renal
Hyperuricemia, Hypomagnesemia OMIM:248250
Rift Valley Fever
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis ORPHA:319251
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Myoclonic spasms OMIM:252150
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Papillary cystadenoma of the epididymis, Renal cell carcinoma, Hyperuricemia ORPHA:93111
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemia OMIM:614227
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonic spasms OMIM:252160
Igg4-Related Pachymeningitis
Paraparesis, Somatic sensory dysfunction, Elevated circulating C-reactive protein concentration ORPHA:449427
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
Arterial Tortuosity Syndrome
Pulmonary artery stenosis, Arterial stenosis, Aortic root aneurysm, Abnormal carotid artery morph... ORPHA:3342
Loeys-Dietz Syndrome 4
Arterial tortuosity, Ascending tubular aorta aneurysm, Aortic root aneurysm, Aortic dissection, A... OMIM:614816
Waardenburg Syndrome, Type 4A
Ataxia, Spastic paraparesis OMIM:277580
Giant Cell Arteritis
Vasculitis, Depression, Aortic dissection, Double outlet right ventricle with subpulmonary ventri... ORPHA:397
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Inability to walk, Abnormal pyramidal sign, Impaired tandem gait, Distal sensory impairme... ORPHA:254930
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Stroke, Aortic dissect... OMIM:175050
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Dorsocervical fat pad, Spastic paraparesis ORPHA:391408
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... OMIM:610168
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia, Reduced sperm motility OMIM:137920
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascular dilatation, Aortic a... ORPHA:1900
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Patent ductus arteriosus, Partial anomalous pulmonary venous return, An... OMIM:619657
Congenital Contractural Arachnodactyly
Aortic aneurysm ORPHA:115
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Epidermal Nevus Syndrome
Rhabdomyosarcoma, Progressive spastic paraparesis, Babinski sign, Spinal cord tumor, Hypertonia, ... ORPHA:35125
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Palatal tremor, Truncal ataxia, Spastic paraparesis OMIM:113610
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Diabetes mellitus, Depression, Irritability, Aortic root aneurysm, Attentio... ORPHA:449291
Macs Syndrome
Dilation of Virchow-Robin spaces, Aortic aneurysm OMIM:613075
Bannayan-Riley-Ruvalcaba Syndrome
Intracranial hemorrhage, Hypoglycemia, Arteriovenous malformation, Aortic aneurysm ORPHA:109
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Babinski sign, Distal sensory impairment, Poor fine motor coordination, Sp... ORPHA:320375
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morphology, Tetralogy of Fallot, ... ORPHA:99050
Hereditary Xanthinuria
Hypouricemia, Hyperxanthinemia ORPHA:3467
Split Cord Malformation
Paraparesis, Spinal cord tumor, Capillary hemangioma, Lipoma, Teratoma ORPHA:573278
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Ascending tubular aorta aneurysm, Low frustration tolerance OMIM:309520
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Coronary artery stenosis, Stroke, Type II diabetes mellitus OMIM:615812
Autosomal Recessive Multiple Pterygium Syndrome
Cognitive impairment, Aortic aneurysm ORPHA:2990
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Lower limb spasticity, Ataxia, Hyperhomocystinemia, Cystathioninemia, Hemipare... ORPHA:395
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... ORPHA:552
Aicardi-Goutières Syndrome
Enchondroma, Multiple joint contractures, Lipoatrophy, Dystonia, Extrapyramidal muscular rigidity... ORPHA:51
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Patent ductus arteriosu... ORPHA:1600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Lateral Meningocele Syndrome
Patent ductus arteriosus, Aortic aneurysm OMIM:130720
Foix-Alajouanine Syndrome
Somatic sensory dysfunction, Dysesthesia, Progressive spastic paraparesis, Unsteady gait, Paresth... ORPHA:79093
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Aortic aneurysm, Attention deficit hyperactivity disorder, Depression ORPHA:261330
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Fixed Subaortic Stenosis
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Coarctation of aorta ORPHA:3092
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Autosomal Recessive Spastic Paraplegia Type 20
Impaired vibratory sensation, Speech apraxia, Babinski sign, Slurred speech, Spastic dysarthria, ... ORPHA:101000
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Progressive spastic paraparesis, Spastic tetraparesis ORPHA:496756
Alport Syndrome
Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Transposition of the great arteries, Cerebral cavernous malformation OMIM:619910
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Thoracic aortic aneurysm, Subarachnoid hemorrhage, Arterial tortuosit... OMIM:613795
Alkaptonuria
Coronary artery calcification, Aortic aneurysm OMIM:203500
Familial Renal Glucosuria
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria ORPHA:69076
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Pulmonary artery dilatation OMIM:620067
Loeys-Dietz Syndrome
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Vascular d... ORPHA:60030
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Osteogenesis Imperfecta, Type I
Aortic aneurysm OMIM:166200
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Thoracic aortic aneurysm, Abnormal internal carotid artery morphology,... ORPHA:365
Loeys-Dietz Syndrome 1
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an... OMIM:609192
Eisenmenger Syndrome
Hyperuricemia, Abnormal B-type natriuretic peptide concentration, Elevated circulating C-reactive... ORPHA:97214
Kniest Dysplasia
Hip contracture, Inguinal hernia, Gait disturbance, Abnormal cartilage collagen, Umbilical hernia OMIM:156550
Say-Barber-Miller Syndrome
Impaired neutrophil chemotaxis, Cryptorchidism, Babinski sign, Elbow flexion contracture, Knee fl... ORPHA:3132
Shprintzen-Goldberg Craniosynostosis Syndrome
Aortic aneurysm OMIM:182212
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Short attention span, Depression, Irritability, Dilatation of the cerebral artery, Diminished abi... OMIM:619475
Cutis Laxa, Autosomal Recessive, Type Ia
Ascending tubular aorta aneurysm, Vascular tortuosity OMIM:219100
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... ORPHA:402075
Argininemia
Hyperammonemia, Progressive spastic quadriplegia, Hyperargininemia, Spastic paraparesis, Frequent... OMIM:207800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Cryptorchidism, Spastic tetraplegia, Distal sensory impairment, Myoclonus, S... OMIM:609136
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aortic root aneurysm, Stroke ORPHA:536467
Chromosome 18Q Deletion Syndrome
Ascending tubular aorta aneurysm, Patent ductus arteriosus OMIM:601808
7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:96121
Marfan Syndrome
Descending aortic dissection, Dilatation of an abdominal artery, Ascending tubular aorta aneurysm... ORPHA:558
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Attention deficit hyperactivity disorder OMIM:301039
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Persistent left superior vena cava OMIM:609008
Meester-Loeys Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... OMIM:300989
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Arthrogryposis multiplex congenita, Pachygyria, Lissencephaly, Abnormal cartilage matrix ORPHA:86822
Heterotaxy, Visceral, 5, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Dextrotransposition of the g... OMIM:270100
Oculodentodigital Dysplasia
Ataxia, Camptodactyly of finger, Abnormal dental enamel morphology, Gait disturbance, Spastic par... ORPHA:2710
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Umbilical hernia, Bilateral camptodactyly, Spastic paraparesis OMIM:619234
Aneurysm-Osteoarthritis Syndrome
Arterial tortuosity, Patent ductus arteriosus, Dilatation of the cerebral artery, Aortic dissecti... ORPHA:284984
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Depression, Irritability, Aortic root aneurysm, Type II diabetes mellitus, Attention deficit hype... OMIM:618891
Koolen-De Vries Syndrome Due To A Point Mutation
Intraventricular hemorrhage, Attention deficit hyperactivity disorder, Aortic aneurysm ORPHA:363965
17Q21.31 Microdeletion Syndrome
Intraventricular hemorrhage, Attention deficit hyperactivity disorder, Aortic aneurysm ORPHA:363958
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Antenatal intracerebral hemorrhage, Aortic aneurysm ORPHA:536545
Adrenomyeloneuropathy
Abnormal circulating fatty-acid concentration, Dysesthesia, Progressive spastic paraparesis, Babi... ORPHA:139399
Tuberous Sclerosis Complex
Pulmonary lymphangiomyomatosis, Aortic aneurysm, Attention deficit hyperactivity disorder, Depres... ORPHA:805
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
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Osteogenesis Imperfecta
Cerebral hemorrhage, Aortic root aneurysm, Aortic dissection, Arterial dissection, Aortic aneurysm ORPHA:666
Fanconi Anemia, Complementation Group C
Cryptorchidism, Leukemia, Flexion contracture, Prolonged G2 phase of cell cycle OMIM:227645
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Aortic aneurysm, Peripheral pulmonary artery stenosis, Coar... ORPHA:90348
Kawasaki Disease
Irritability, Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defe... ORPHA:2331
Larsen Syndrome
Aortic aneurysm OMIM:150250
Boudin-Mortier Syndrome
Aortic root aneurysm OMIM:619543
Hurler Syndrome
Cerebral palsy, Camptodactyly of finger, Abnormal pyramidal sign, Hernia, Spastic paraparesis ORPHA:93473
Arterial Tortuosity Syndrome
Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneurysm, Ischemic stroke, Gene... OMIM:208050
Biotinidase Deficiency
Ataxia, Hyperammonemia, Spastic paraparesis ORPHA:79241
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Thoracic aortic aneurysm OMIM:619351
Fontaine Progeroid Syndrome
Patent ductus arteriosus, Prominent superficial veins, Neonatal death, Aortic aneurysm OMIM:612289
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... OMIM:619702
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Arteriovenous f... ORPHA:286
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ascending tubular aorta aneurysm ORPHA:453499
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm ORPHA:3093
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Prominent superficial veins, Carotid artery stenosis OMIM:618000
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix OMIM:245650
Cap Myopathy
Aortic root aneurysm ORPHA:171881
Lethal Kniest-Like Dysplasia
Abnormal cartilage morphology, Abnormal cartilage matrix ORPHA:2347
Scheie Syndrome
Cerebral palsy, Spastic paraparesis ORPHA:93474
Laubry-Pezzi Syndrome
Dilatation of the sinus of Valsalva, Ascending tubular aorta aneurysm, Patent ductus arteriosus, ... ORPHA:99094
Eales Disease
Spastic paraparesis ORPHA:40923
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Aortic root aneurysm ORPHA:404443
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Double outlet right ventricle OMIM:616652
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm ORPHA:444072
Adult-Onset Still Disease
Cartilage destruction, Abnormal circulating lipid concentration, Elevated circulating C-reactive ... ORPHA:829
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Ascending tubular aorta aneurysm ORPHA:536471
Fanconi Anemia, Complementation Group E
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:227650
Neonatal Marfan Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm ORPHA:284979
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, A... OMIM:619472
Lmna-Related Cardiocutaneous Progeria Syndrome
Intracranial hemorrhage, Aortic root aneurysm, Aortic atherosclerotic lesion, Abnormality of the ... ORPHA:363618
Marfan Syndrome
Ascending tubular aorta aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Aortic disse... OMIM:154700
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm OMIM:130000
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Coarctation of aorta OMIM:617602
Classical-Like Ehlers-Danlos Syndrome Type 2
Diabetes mellitus, Carotid artery stenosis, Prominent veins on trunk, Varicose veins, Aortic root... ORPHA:536532
Contractural Arachnodactyly, Congenital
Patent ductus arteriosus, Aortic root aneurysm OMIM:121050
Spondyloepiphyseal Dysplasia Tarda
Abnormal cartilage morphology, Paresthesia ORPHA:93284
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm OMIM:145420
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuosity, Pulmonary artery aneu... OMIM:614437
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aorta, Aortic root aneurysm, Pe... OMIM:617506
Autosomal Dominant Polycystic Kidney Disease
Dilatation of the cerebral artery, Aortic root aneurysm, Abnormal systemic arterial morphology ORPHA:730
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:227646
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Hyperinsulinemia, Coarctation of aorta, Gastrointestinal angiodysplasia, De... ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Hyperinsulinemia, Coarctation of aorta, Gastrointestinal angiodysplasia, De... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Hyperinsulinemia, Coarctation of aorta, Gastrointestinal angiodysplasia, De... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Hyperinsulinemia, Coarctation of aorta, Gastrointestinal angiodysplasia, De... ORPHA:99226
Immunodeficiency 23
Aortic root aneurysm, Vasculitis in the skin OMIM:615816
Kniest Dysplasia
Abnormal cartilage collagen, Flexion contracture of finger ORPHA:485
Moderate Hemophilia A
Cartilage destruction, Hip contracture ORPHA:169805
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Patent ductus arteriosus, Coarctation of aorta, Ascending tubular aorta aneurysm, Transposition o... OMIM:612474
Opitz Gbbb Syndrome
Short attention span, Patent ductus arteriosus, Coarctation of aorta, Aortic root aneurysm, Persi... ORPHA:2745
Blau Syndrome
Large vessel vasculitis, Aortic aneurysm ORPHA:90340
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm ORPHA:230851
Koolen-De Vries Syndrome
Patent ductus arteriosus, Aortic root aneurysm OMIM:610443
Cockayne Syndrome Type 3
Progressive neurologic deterioration, Subdural hemorrhage, Aortic root aneurysm, Stroke, Cognitiv... ORPHA:90324
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm OMIM:615349
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm OMIM:616914
Sotos Syndrome
Patent ductus arteriosus, Neonatal hypoglycemia, Attention deficit hyperactivity disorder, Aortic... ORPHA:821
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Patent ductus arteriosus, Aortic root aneurysm OMIM:135500
Hypermobile Ehlers-Danlos Syndrome
Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection, Depression ORPHA:285
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
Williams Syndrome
Aortic arch aneurysm, Overriding aorta, Abnormal cerebral vascular morphology, Retinal arteriolar... ORPHA:904
Multiple Osteochondromas
Osteochondroma, Chondrosarcoma, Somatic sensory dysfunction, Abnormal cartilage morphology, Rib e... ORPHA:321
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Aortic root aneurysm, Aortopulmonary collateral arteries, Aortopulmo... OMIM:620025
Charge Syndrome
Aortic arch aneurysm, Patent ductus arteriosus, Interrupted aortic arch, Attention deficit hypera... ORPHA:138
Restrictive Dermopathy
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Transposition of the great arteries ORPHA:1662
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Peripheral pulmonary artery stenosis ORPHA:280633
Au-Kline Syndrome
Aortic root aneurysm, Attention deficit hyperactivity disorder OMIM:616580
X Small Rings
Aortic root aneurysm ORPHA:96201
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Hyperglycemia ORPHA:444077
Microphthalmia, Syndromic 2
Cryptorchidism, Flexion contracture, Spastic paraparesis, Umbilical hernia, Contracture of the pr... OMIM:300166
Reactive Arthritis
Cartilage destruction, Enthesitis ORPHA:29207
1P36 Deletion Syndrome
Aortic arch aneurysm, Patent ductus arteriosus, Tetralogy of Fallot ORPHA:1606
Alkaptonuria
Cartilage destruction, Calcification of cartilage ORPHA:56
Classical Ehlers-Danlos Syndrome
Arterial dissection, Dilatation of the cerebral artery, Aortic root aneurysm, Arteriovenous fistula ORPHA:287
Chromosome 1P36 Deletion Syndrome, Distal
Patent ductus arteriosus, Aortic root aneurysm, Tetralogy of Fallot 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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