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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
Camptodactyly, Impaired vibration sensation at ankles, Difficulty walking, Babinski sign, Ankle c... OMIM:275900
Autosomal Recessive Spastic Paraplegia Type 20
Spasticity, Ankle clonus, Spastic dysarthria, Speech apraxia, Impaired vibratory sensation, Slurr... 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, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Aortic Aneurysm, Familial Thoracic 6
Descending aortic dissection, Aortic aneurysm, Thoracic aortic aneurysm, Premature coronary arter... OMIM:611788
Autosomal Recessive Spastic Paraplegia Type 43
Spasticity, Difficulty walking, Knee flexion contracture, Flexion contracture of finger, Impaired... ORPHA:320370
Aortic Aneurysm, Familial Thoracic 8
Descending aortic dissection, Coronary artery dissection, Ascending aortic dissection, Abdominal ... OMIM:615436
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection OMIM:617349
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Paraparesis, Elevated circulating guanidinoacetic acid concentration, Decreased serum cre... OMIM:612736
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Parkinsonism, Progressive cerebellar ataxia, Weakness due to upper motor neuron dys... ORPHA:275872
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Frequent falls, Distal sensory impairment, Gait disturbance, Hand tremor, Difficulty walking, Par... OMIM:302800
Aortic Aneurysm, Familial Thoracic 4
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... OMIM:132900
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Ataxia, Paraparesis, Myoclonus, Choreoathetosis, Spastic para... ORPHA:726
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Gait disturbance, Ataxia, Paraparesis, Tremor ORPHA:99014
Spastic Paraparesis-Deafness Syndrome
Impaired pain sensation, Gait disturbance, Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis ORPHA:2815
Familial Aortic Dissection
Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extracellular matrix accumulat... ORPHA:229
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperuricemia, Hypertriglyceridemia, ... OMIM:604367
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Torticollis, Distal sensory impairment, Gait disturbance, Ataxia, Parki... OMIM:606693
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Tremor, Gait ... OMIM:615157
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
Progressive cerebellar ataxia, Rigidity, Laryngeal dystonia, Fasciculations, Dystonia, Spasticity... ORPHA:99
Spinocerebellar Ataxia 40
Unsteady gait, Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, D... OMIM:616053
Distal Duplication 14Q
Cognitive impairment, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Lesch-Nyhan Phenotype With Normal Hgprt
Spasticity, Choreoathetosis, Hyperuricemia OMIM:308950
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young OMIM:613370
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Paraparesis, Distal sensory impairment OMIM:302802
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Inability to walk, Oromotor apraxia, Ataxia, Clumsiness, Lower limb spasticity, Parap... OMIM:617854
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Parkinsonism, Paraparesis, Apraxia, Abnormal lower motor neuron morphology, Amyotro... OMIM:105550
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Frequent falls, Tetraparesis, Abnormal pyramidal sign, Inability to walk, Cogwheel rigidity, Para... OMIM:607483
Distal 7Q11.23 Microduplication Syndrome
Aortic aneurysm, Anxiety, Patent ductus arteriosus ORPHA:261102
Multiple Symmetric Lipomatosis
Paresthesia, Multiple lipomas, Gait disturbance, Abnormal adipose tissue morphology ORPHA:2398
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Spinocerebellar Ataxia Type 40
Unsteady gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dysmetria, Broad-based gait, Sp... ORPHA:423275
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Hyperammonemia, Ataxia, Paraparesis, Choreoathetosis ORPHA:27
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Lipoatrophy, Hypertriglyceridemia, Loss of facial adipose tissue, Loss of subcutan... ORPHA:79083
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Primary Angiitis Of The Central Nervous System
Tetraparesis, Parkinsonism, Hemiparesis, Ataxia, Paraparesis, Paralysis ORPHA:140989
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Choreoathetosis, Ataxia, Spastic paraparesis ORPHA:67047
Lesch-Nyhan Syndrome
Spasticity, Hemiplegia/hemiparesis, Hyperuricemia ORPHA:510
Mast Syndrome
Gait disturbance, Apraxia, Dysdiadochokinesis, Athetosis, Spastic paraplegia, Babinski sign, Hype... OMIM:248900
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
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Gait disturbance, Somatic sensory dysfunction, Difficulty walking, Tremor, Spa... ORPHA:101077
Spastic Paraplegia 48, Autosomal Recessive
Parkinsonism, Ataxia, Broad-based gait, Tip-toe gait, Spastic paraplegia, Spastic gait, Spastic p... OMIM:613647
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglutamatemia, Hypoargininemia, Hyperammonemia, Paraparesis, Hyperalaninemia, Generalized dys... OMIM:620358
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Visceral angiomatosis, Cutaneous angiolipomas ORPHA:53721
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Peroxisome Biogenesis Disorder 8B
Spasticity, Frequent falls, Elevated circulating phytanic acid concentration, Unsteady gait, Atax... OMIM:614877
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Limb ataxia, Paraparesis, Elevated circulating long chain... OMIM:300100
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia, Action tremor ORPHA:77296
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Hemiparesis, Gait disturbance, Clumsiness, Paraparesis, Paralysis, P... ORPHA:43
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Hyperammonemia, Hyperuricemia, Myoclonus, Decreased plasma carnitine OMIM:246450
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Ascending aortic dissection, Aortic tortuosity OMIM:616166
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic... ORPHA:3400
Spastic Ataxia 4, Autosomal Recessive
Limb ataxia, Upper limb hypertonia, Spastic ataxia, Gait ataxia, Lower limb hypertonia, Babinski ... OMIM:613672
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection OMIM:604308
Purine Nucleoside Phosphorylase Deficiency
Spasticity, Neoplasm, Ataxia, Abnormal central motor function, Hypouricemia, Cerebral palsy, Hype... ORPHA:760
Neurodegeneration With Brain Iron Accumulation 6
Spastic tetraplegia, Gait disturbance, Tip-toe gait, Rigidity, Bradykinesia, Oromandibular dyston... OMIM:615643
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Upper motor neuron dysfunction, Progressive spasticity, Progressive spastic paraplegia, Ankle clo... ORPHA:506353
Aortic Valve Disease 2
Coarctation of aorta, Aortic aneurysm, Calcification of the aorta, Ascending aortic dissection, A... OMIM:614823
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Burkitt Lymphoma
Neoplasm of the oral cavity, Hyperuricemia ORPHA:543
Spastic Paraplegia 75, Autosomal Recessive
Spasticity, Abnormal pyramidal sign, Impaired distal vibration sensation, Spastic dysarthria, Los... OMIM:616680
Autosomal Dominant Spastic Paraplegia Type 73
Spastic gait, Difficulty walking, Progressive spastic paraplegia, Impaired vibration sensation in... ORPHA:444099
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spasticity, Abnormal pyramidal sign, Hyperammonemia, Poor coordination, Clonus, Spastic diplegia,... OMIM:238970
Hsd10 Disease
Gait disturbance, Ataxia, Rigidity, Tremor, Myoclonus, Choreoathetosis, Spastic paraparesis ORPHA:391417
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Elevated circulating creatinine concentration OMIM:617056
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Frequent falls, Upper limb hypertonia, Progressive cerebellar ataxia, Progressive gait ataxia, Lo... ORPHA:254343
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Lesch-Nyhan Syndrome
Spasticity, Hyperuricemia, Abnormality of extrapyramidal motor function, Opisthotonus, Choreoathe... OMIM:300322
Glycogen Storage Disease Ixb
Hyperuricemia OMIM:261750
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Aortic root aneurysm, Thoracic aortic aneurysm, Aortic... OMIM:617168
Obsolete: Arnold-Chiari Malformation Type Ii
Spasticity, Polymicrogyria, Somatic sensory dysfunction, Ataxia, Difficulty walking, Paraparesis,... ORPHA:1136
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Right aortic arch, Tetralogy of Fallot, Anxiety, Double aortic arch, Ao... OMIM:618780
Beta-Ketothiolase Deficiency
Spasticity, Hyperammonemia, Hyperuricemia, Ataxia, Extrapyramidal dyskinesia ORPHA:134
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Anxiety OMIM:618970
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia OMIM:613092
Spastic Paraplegia 20, Autosomal Recessive
Camptodactyly, Impaired vibration sensation at ankles, Difficulty walking, Babinski sign, Ankle c... OMIM:275900
Igg4-Related Aortitis
Abnormal common carotid artery morphology, Thoracic aortic aneurysm, Dilated left subclavian arte... ORPHA:449400
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Aortic ar... OMIM:613834
Congenital Heart Defects, Multiple Types, 2
Aortic aneurysm, Tetralogy of Fallot OMIM:614980
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, Gait disturbance, Ataxia, Difficulty walking, Clumsiness, Hemiplegia, Loss of amb... ORPHA:206443
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
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
Subarachnoid hemorrhage, Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extra... ORPHA:91387
Familial Cerebral Saccular Aneurysm
Subarachnoid hemorrhage, Abnormal circle of Willis morphology, Aortic root aneurysm, Intracranial... ORPHA:231160
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Hyperammonemia, Hyperuricemia, Ataxia, Myoclonus, Spastic hemiparesis ORPHA:20
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia ORPHA:261222
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Purine Nucleoside Phosphorylase Deficiency
Tetraparesis, Increased circulating inosine concentration, Ataxia, Increased circulating guanosin... OMIM:613179
Bilateral Perisylvian Polymicrogyria
Spasticity, Spastic tetraplegia, Distal arthrogryposis, Limb hypertonia, Oromotor apraxia, Parapa... ORPHA:98889
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Increased blood urea nitrogen, Hypomagnesemia OMIM:613845
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Neuroleptic Malignant Syndrome
Hyperuricemia, Oculogyric crisis, Hyperphosphatemia, Elevated circulating creatine kinase concent... ORPHA:94093
Primary Lateral Sclerosis
Spasticity, Spastic gait, Somatic sensory dysfunction, Weakness due to upper motor neuron dysfunc... ORPHA:35689
Arachnoid Cyst
Tetraparesis, Distal sensory impairment, Neoplasm, Paresthesia, Hemiparesis, Inability to walk, G... ORPHA:2356
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Spastic ataxia, Myoclonus, Spastic pa... OMIM:614487
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Abnormality of extrapyramidal motor function, Hyperuricemia, Dystonia, Elevated circulating creat... ORPHA:79233
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia OMIM:203800
Cockayne Syndrome
Spasticity, Somatic sensory dysfunction, Hyperuricemia, Ataxia, Limb hypertonia, Gait disturbance... ORPHA:191
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Ataxia ORPHA:411543
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Macular scar OMIM:239000
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Aggressive behavior, Hyperinsulinemia ORPHA:329249
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Fibromuscular Dysplasia, Arterial
Stroke, Aortic dissection, Arterial fibromuscular dysplasia OMIM:135580
Acute Transverse Myelitis
Spasticity, Paresthesia, Somatic sensory dysfunction, Gait disturbance, Paraparesis, Dysesthesia,... ORPHA:139417
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Oculomotor apraxia, Ataxia, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spasti... ORPHA:313772
Loeys-Dietz Syndrome 6
Vertebral artery aneurysm, Thoracic aortic aneurysm, Varicose veins, Carotid artery dissection, C... OMIM:619656
Periventricular Nodular Heterotopia
Aortic aneurysm, Patent ductus arteriosus ORPHA:98892
Autosomal Recessive Spastic Paraplegia Type 11
Parkinsonism, Progressive spasticity, Inability to walk, Gait disturbance, Ataxia, Paraparesis, A... ORPHA:2822
Developmental And Epileptic Encephalopathy 82
Inability to walk, Spastic tetraplegia, Hyperammonemia, Spastic paraparesis OMIM:618721
Neurofibromatosis, Familial Spinal
Spinal neurofibroma, Paraparesis, Symmetric spinal nerve root neurofibromas, Plexiform neurofibro... OMIM:162210
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Leukodystrophy, Hypomyelinating, 2
Progressive spasticity, Ataxia, Head titubation, Rigidity, Intention tremor, Babinski sign, Chore... OMIM:608804
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Neonatal death OMIM:601612
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Frequent falls, Parkinsonism, Gait disturbance, Hand tremor, Rigidity, Shuffling gait... ORPHA:289560
Hypermanganesemia With Dystonia 1
Parkinsonism, Steppage gait, Abnormality of extrapyramidal motor function, Hypermanganesemia, Rig... OMIM:613280
Aortic Aneurysm, Familial Thoracic 12
Ascending aortic dissection, Ascending tubular aorta aneurysm, Aortic root aneurysm OMIM:619825
Fragile X Syndrome
Self-injurious behavior, Ascending tubular aorta aneurysm, Anxiety ORPHA:908
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Hyponatremia, Hypercalcemia, P... ORPHA:199299
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Difficulty walking, Impaired proprioception, Sensory ataxia, Impaired vibratory sensation, Mitoch... OMIM:500013
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia ORPHA:348
Adult Krabbe Disease
Spasticity, Tetraparesis, Frequent falls, Upper motor neuron dysfunction, Somatic sensory dysfunc... ORPHA:206448
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Cogwheel rigidity, Ankle clonus, Scissor gait, Bradykinesia, Resting tremor, Babinski... ORPHA:363654
Poliomyelitis
Hyperkinetic movements, Paresthesia, Inability to walk, Paraparesis, Paralysis, Fasciculations ORPHA:2912
Molybdenum Cofactor Deficiency, Complementation Group C
Polymicrogyria, Limb hypertonia, Hypouricemia, Hypertonia, Hypocystinemia, Hypertaurinemia OMIM:615501
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis ORPHA:329284
Ollier Disease
Hemangioma, Neoplasm, Visceral angiomatosis, Multiple enchondromatosis, Abnormal cartilage morpho... ORPHA:296
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Isolated Succinate-Coq Reductase Deficiency
Spasticity, Frequent falls, Ataxia, Knee flexion contracture, Loss of ambulation, Lower limb hype... ORPHA:3208
Wilson Disease
Hepatocellular carcinoma, Limb dystonia, Chondrocalcinosis, Hand tremor, Hypoesthesia, Hypouricem... OMIM:277900
Glycogen Storage Disease Ia
Hepatocellular carcinoma, Hyperlipidemia, Xanthelasma, Hyperuricemia OMIM:232200
Aortic Valve Disease 3
Ascending aortic dissection, Aortic root aneurysm OMIM:618496
Farber Disease
Spasticity, Flexion contracture, Myoclonus, Paraparesis ORPHA:333
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis, Hypercalcemia OMIM:602080
Coasy Protein-Associated Neurodegeneration
Oromandibular dystonia, Difficulty walking, Parkinsonism, Spastic paraparesis ORPHA:397725
Temtamy Syndrome
Aortic aneurysm, Self-mutilation OMIM:218340
Rin2 Syndrome
Aortic aneurysm, Cognitive impairment ORPHA:217335
Cerebrotendinous Xanthomatosis
Spasticity, Abnormal pyramidal sign, Parkinsonism, Somatic sensory dysfunction, Gait disturbance,... ORPHA:909
Prune1-Related Neurological Syndrome
Inability to walk, Clonus, Elevated circulating creatine kinase concentration, Spastic tetrapares... ORPHA:544469
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Hyperlipidemia, Xanthelasma, Hyperuricemia OMIM:232220
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Ataxia OMIM:300661
Phace Association
Coarctation of aorta, Aortic aneurysm, Anomalous branches of internal carotid artery, Patent duct... OMIM:606519
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hand tremor, Unsteady gait, Flexion contracture of digit, Reduced subcutaneous adipose tissue, Dy... ORPHA:3041
Lipodystrophy, Familial Partial, Type 1
Coronary artery atherosclerosis, Hyperglycemia, Prominent superficial veins, Insulin-resistant di... OMIM:608600
Acute Adrenal Insufficiency
Hyperuricemia, Increased circulating renin level, Decreased circulating cortisol level, Hyperkale... ORPHA:95409
Cardiomyopathy, Familial Restrictive, 3
Aortic aneurysm OMIM:612422
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maternal diabetes, Hyperglycemia, Maturity-onset diabetes of the young OMIM:616329
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular carcinoma, Hepatocellular adenoma, Hyperuricemia, Hypertriglyceridemia, Hyperlipid... ORPHA:79259
Hyperuricemia, Hprt-Related
Hyperuricemia OMIM:300323
Oculodentodigital Dysplasia
Spasticity, Tetraparesis, Ataxia, Joint contracture of the 5th finger, Paraparesis, Enamel hypopl... OMIM:164200
Takayasu Arteritis
Vascular dilatation, Vasculitis, Ascending tubular aorta aneurysm, Arterial stenosis ORPHA:3287
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Xanthinuria, Type Ii
Hypouricemia, Increased circulating hypoxanthine concentration, Hyperxanthinemia OMIM:603592
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia, Tetraplegia, Ataxia ORPHA:1187
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... OMIM:262190
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:411536
Addison Disease
Thymoma, Hyperuricemia, Increased circulating renin level, Decreased circulating cortisol level, ... ORPHA:85138
Cystinuria
Hyperuricemia ORPHA:214
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Increased serum bile acid concent... OMIM:227810
Gaisböck Syndrome
Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch... ORPHA:90041
X-Linked Charcot-Marie-Tooth Disease Type 2
Distal sensory impairment, Gait disturbance, Hand tremor, Clasp-knife sign, Steppage gait, Babins... ORPHA:101076
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraparesis, Paraplegia, Hemiparesis ORPHA:79124
Glycogen Storage Disease Ic
Hepatocellular carcinoma, Hyperuricemia, Hepatoblastoma, Hyperlipidemia, Xanthelasma OMIM:232240
Sjogren-Larsson Syndrome
Spasticity, Flexion contracture, Enamel hypoplasia, Spastic paraparesis OMIM:270200
Medullary cystic kidney disease 2
Hyperuricemia OMIM:603860
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia ORPHA:469
Seckel Syndrome 10
Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Glucose intolerance, Insulin resistanc... OMIM:617253
Leukodystrophy, Hypomyelinating, 3
Abnormal pyramidal sign, Spastic paraparesis, Appendicular spasticity, Joint contracture OMIM:260600
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Rigidity, Tremor, Bradykinesia, Akinesia, Dystonia, Spastic paraparesis OMIM:300894
Amyloidosis, Hereditary, Transthyretin-Related
Spasticity, Abnormal pyramidal sign, Limb ataxia, Hemiparesis, Ataxia, Tremor, Positive Romberg s... OMIM:105210
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hyperuricemia, Elevated circulating creatinine concentration OMIM:174000
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Hyperglycemia, Type I diabetes mellitus OMIM:606176
Multiple Carboxylase Deficiency
Hyperammonemia, Ataxia, Spastic paraparesis ORPHA:148
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Transposition of the gre... OMIM:217095
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Double outlet right ventricle, Overriding aorta, Persistent left superior vena cava ORPHA:477817
Pelizaeus-Merzbacher Disease In Female Carriers
Hand apraxia, Inability to walk, Gait disturbance, Difficulty walking, Babinski sign, Lower limb ... ORPHA:280229
Congenital Heart Defects, Multiple Types, 6
Pulmonary artery atresia, Coarctation of aorta, Right aortic arch, Tetralogy of Fallot, Total ano... OMIM:613854
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Aortic aneurysm OMIM:620070
Alexander Disease Type Ii
Spasticity, Ataxia, Rigidity, Palatal tremor, Babinski sign, Spastic paraparesis ORPHA:363722
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Encephalocraniocutaneous Lipomatosis
Spasticity, Lipodystrophy, Hemiparesis, Hemiplegia, Capillary hemangioma, Visceral angiomatosis, ... ORPHA:2396
Gaucher Disease, Type Iii
Myoclonus, Ataxia, Spastic paraparesis OMIM:231000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal transferrin saturation, Abnormal blood inorganic cation concentration, Hyperglycinemia, ... ORPHA:309854
Rift Valley Fever
Paraparesis, Hemiparesis, Paralysis, Decerebrate rigidity ORPHA:319251
Fatty Acid Hydroxylase-Associated Neurodegeneration
Upper motor neuron dysfunction, Falls, Progressive spastic paraplegia, Loss of ambulation, Genera... ORPHA:329308
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal cell carcinoma, Papillary cystadenoma of the epididymis, Hyperuricemia ORPHA:93111
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemia OMIM:614227
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
Hypomagnesemia 3, Renal
Hyperuricemia, Hypomagnesemia OMIM:248250
Molybdenum Cofactor Deficiency, Complementation Group A
Myoclonic spasms, Spastic tetraplegia, Hypouricemia, Opisthotonus, Spastic tetraparesis OMIM:252150
Molybdenum Cofactor Deficiency, Complementation Group B
Myoclonic spasms, Spastic tetraplegia, Hypouricemia, Opisthotonus, Hypertonia OMIM:252160
Arterial Tortuosity Syndrome
Aortic root aneurysm, Aortic aneurysm, Abnormal carotid artery morphology, Aortic dissection, Vas... ORPHA:3342
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Arterial tortuosity, Ascending tubular aorta aneurysm, Aortic dissection, A... OMIM:614816
Igg4-Related Pachymeningitis
Paraparesis, Somatic sensory dysfunction, Elevated circulating C-reactive protein concentration ORPHA:449427
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Camptodactyly, Ataxia, Arthrogryposis-like hand anomaly, Umbilical hernia, Incoordination, Spasti... ORPHA:369891
Waardenburg Syndrome, Type 4A
Ataxia, Spastic paraparesis OMIM:277580
Combined Oxidative Phosphorylation Defect Type 7
Abnormal pyramidal sign, Distal sensory impairment, Inability to walk, Ataxia, Impaired tandem ga... ORPHA:254930
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Stroke, Pulmonary arteriovenous malformation, Hepatic arteriovenous malformation, Aortic aneurysm... OMIM:175050
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Dextrotransposition of the great arteries, Left superior vena cava drai... OMIM:619657
Renal Cysts And Diabetes Syndrome
Reduced sperm motility, Hyperuricemia, Elevated circulating creatinine concentration OMIM:137920
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Dorsocervical fat pad, Broad-based gait, Spastic paraparesis ORPHA:391408
Loeys-Dietz Syndrome 2
Dilatation of mesenteric artery, Descending aortic dissection, Aortic root aneurysm, Generalized ... OMIM:610168
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Aortic aneurysm, Arterial dissection, Aortic dissection, Abnormal venous morphology, Vascular dil... ORPHA:1900
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
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm, Diabetes mellitus, Anxiety, Irritability, Self-injurious behavior, Aggressi... ORPHA:449291
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Aggressive behavior, Ascending tubular aorta aneurysm, Low frustration tolerance OMIM:309520
Epidermal Nevus Syndrome
Lipoma, Spinal cord tumor, Progressive spastic paraparesis, Babinski sign, Hypertonia, Rhabdomyos... ORPHA:35125
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Truncal ataxia, Palatal tremor OMIM:113610
Macs Syndrome
Aortic aneurysm, Dilation of Virchow-Robin spaces OMIM:613075
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Bannayan-Riley-Ruvalcaba Syndrome
Aortic aneurysm, Intracranial hemorrhage, Hypoglycemia, Arteriovenous malformation ORPHA:109
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Coarcta... ORPHA:99050
Autosomal Recessive Spastic Paraplegia Type 55
Spasticity, Distal sensory impairment, Babinski sign, Arthrogryposis multiplex congenita, Poor fi... ORPHA:320375
Fructose Intolerance, Hereditary
Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hypophosphatemia OMIM:229600
Hereditary Xanthinuria
Hypouricemia, Hyperxanthinemia ORPHA:3467
Split Cord Malformation
Paraparesis, Capillary hemangioma, Lipoma, Teratoma, Spinal cord tumor ORPHA:573278
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Stroke, Coronary artery stenosis, Type II diabetes mellitus OMIM:615812
Autosomal Recessive Multiple Pterygium Syndrome
Aortic aneurysm, Cognitive impairment ORPHA:2990
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Mody
Neonatal hypoglycemia, Glycosuria, Abnormal oral glucose tolerance, Hyperglycemia, Transient neon... ORPHA:552
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Gait disturbance, Hemiparesis, Ataxia, Cystathioninemia, Hyperhomocystinemia, Hypomethioninemia, ... ORPHA:395
Monosomy 18Q
Aortic aneurysm, Left aortic arch with right descending aorta and right ductus arteriosus, Patent... ORPHA:1600
Aicardi-Goutières Syndrome
Spasticity, Abnormal pyramidal sign, Spastic tetraplegia, Difficulty walking, Chronic lymphatic l... ORPHA:51
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
7Q11.23 Microduplication Syndrome
Aortic aneurysm, Anxiety, Self-injurious behavior, Patent ductus arteriosus, Aggressive behavior ORPHA:96121
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Lateral Meningocele Syndrome
Aortic aneurysm, Patent ductus arteriosus OMIM:130720
Foix-Alajouanine Syndrome
Frequent falls, Paresthesia, Somatic sensory dysfunction, Unsteady gait, Difficulty walking, Dyse... ORPHA:79093
Fixed Subaortic Stenosis
Ascending tubular aorta aneurysm, Coarctation of aorta, Patent ductus arteriosus ORPHA:3092
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Alport Syndrome
Aortic aneurysm, Abnormal aortic morphology, Renal glomerular foam cells ORPHA:63
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Aortic root aneurysm, Transposition of the great arteries OMIM:619910
Loeys-Dietz Syndrome 3
Subarachnoid hemorrhage, Dilatation of the sinus of Valsalva, Descending aortic dissection, Aorti... OMIM:613795
Familial Renal Glucosuria
Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia, Glycosuria ORPHA:69076
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic tetraparesis, Progressive spastic paraparesis, Spastic ataxia ORPHA:496756
Alkaptonuria
Aortic aneurysm, Coronary artery calcification OMIM:203500
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Ascending tubular aorta aneurysm OMIM:620067
Autosomal Recessive Spastic Paraplegia Type 20
Spasticity, Ankle clonus, Spastic dysarthria, Speech apraxia, Impaired vibratory sensation, Slurr... ORPHA:101000
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic tetany, Ele... ORPHA:411634
Loeys-Dietz Syndrome
Aortic aneurysm, Arterial tortuosity, Arterial dissection, Aortic dissection, Patent ductus arter... ORPHA:60030
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Anomalous origin of right pulmonary artery from ascending aorta, Patent duc... OMIM:610338
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Abnormal internal carotid artery morphology, Thoracic aortic aneurysm, Cognitive impa... ORPHA:365
Osteogenesis Imperfecta, Type I
Aortic aneurysm OMIM:166200
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Abnormal B-type natriuretic peptide concen... ORPHA:97214
Loeys-Dietz Syndrome 1
Aortic root aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Dilatation of the ... OMIM:609192
Kniest Dysplasia
Inguinal hernia, Gait disturbance, Abnormal cartilage collagen, Umbilical hernia, Hip contracture OMIM:156550
Shprintzen-Goldberg Craniosynostosis Syndrome
Aortic aneurysm OMIM:182212
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Violent behavior, Emotional lability, Suicidal ideation, Aortic aneurysm, Cognitive impairment, A... OMIM:619475
Cutis Laxa, Autosomal Recessive, Type Ia
Vascular tortuosity, Ascending tubular aorta aneurysm OMIM:219100
Argininemia
Frequent falls, Hyperammonemia, Hyperargininemia, Progressive spastic quadriplegia, Spastic gait,... OMIM:207800
Familial Bicuspid Aortic Valve
Ascending aortic dissection, Aortic arch aneurysm, Thoracic aorta calcification, Coarctation of a... ORPHA:402075
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aggressive behavior, Aortic root aneurysm OMIM:301039
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thoracic aortic aneurysm, Stroke, Ascending tubular aorta aneurysm, Aortic root aneurysm ORPHA:536467
Chromosome 18Q Deletion Syndrome
Ascending tubular aorta aneurysm, Patent ductus arteriosus OMIM:601808
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Anxiety, Aggressive behavior, Aortic root aneurysm ORPHA:404443
Distal 22Q11.2 Microdeletion Syndrome
Aortic aneurysm, Truncus arteriosus ORPHA:261330
Say-Barber-Miller Syndrome
Ankle clonus, Knee flexion contracture, Impaired neutrophil chemotaxis, Spastic paraparesis, Lowe... ORPHA:3132
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Persistent left superior vena cava OMIM:609008
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic tetraplegia, Torticollis, Distal sensory impairment, Ataxia, Myoclonus, Arthr... OMIM:609136
Meester-Loeys Syndrome
Aortic root aneurysm, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aortic... OMIM:300989
Tuberous Sclerosis Complex
Aortic aneurysm, Anxiety, Self-injurious behavior, Pulmonary lymphangiomyomatosis, Aggressive beh... ORPHA:805
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Arthrogryposis multiplex congenita, Lissencephaly, Abnormal cartilage matrix, Pachygyria ORPHA:86822
Heterotaxy, Visceral, 5, Autosomal
Pulmonary artery atresia, Coarctation of aorta, Total anomalous pulmonary venous return, Dextrotr... OMIM:270100
Oculodentodigital Dysplasia
Spasticity, Camptodactyly of finger, Gait disturbance, Ataxia, Umbilical hernia, Abnormal dental ... ORPHA:2710
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Umbilical hernia, Spastic paraparesis, Bilateral camptodactyly OMIM:619234
Teebi Hypertelorism Syndrome 1
Anxiety, Panic attack, Aortic root aneurysm OMIM:145420
Koolen-De Vries Syndrome Due To A Point Mutation
Aortic aneurysm, Intraventricular hemorrhage, Anxiety ORPHA:363965
17Q21.31 Microdeletion Syndrome
Aortic aneurysm, Intraventricular hemorrhage, Anxiety ORPHA:363958
Marfan Syndrome
Pulmonary artery dilatation, Descending aortic dissection, Arterial dissection, Ascending tubular... ORPHA:558
Aneurysm-Osteoarthritis Syndrome
Dilatation of the sinus of Valsalva, Arterial tortuosity, Arterial dissection, Dilatation of the ... ORPHA:284984
Kyphoscoliotic Ehlers-Danlos Syndrome
Aortic aneurysm, Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Subdural hemorrhage ORPHA:536545
Adrenomyeloneuropathy
Spasticity, Spastic gait, Distal sensory impairment, Dysesthesia, Abnormal circulating fatty-acid... 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, Hypouricemia, Bicarbonaturia, Hypokalemia, Hypophosphatemic rickets, Decreased ... ORPHA:3337
Autosomal Dominant Cutis Laxa
Aortic aneurysm, Peripheral pulmonary artery stenosis, Coarctation of aorta, Dilatation of the ve... ORPHA:90348
Osteogenesis Imperfecta
Aortic root aneurysm, Cerebral hemorrhage, Aortic aneurysm, Arterial dissection, Aortic dissection ORPHA:666
Larsen Syndrome
Aortic aneurysm OMIM:150250
Arterial Tortuosity Syndrome
Aortic root aneurysm, Generalized arterial tortuosity, Ischemic stroke, Carotid artery dissection... OMIM:208050
Boudin-Mortier Syndrome
Aortic root aneurysm OMIM:619543
Hurler Syndrome
Abnormal pyramidal sign, Camptodactyly of finger, Hernia, Cerebral palsy, Spastic paraparesis ORPHA:93473
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Thoracic aortic aneurysm, Patent ductus arteriosus OMIM:619351
Biotinidase Deficiency
Hyperammonemia, Ataxia, Spastic paraparesis ORPHA:79241
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Aortic aneurysm, Cognitive impairment, Arteriovenous fistulas o... ORPHA:286
Heterotaxy, Visceral, 12, Autosomal
Pulmonary artery atresia, Coarctation of aorta, Congenitally corrected transposition of the great... OMIM:619702
Fontaine Progeroid Syndrome
Aortic aneurysm, Prominent superficial veins, Patent ductus arteriosus, Neonatal death OMIM:612289
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ascending tubular aorta aneurysm ORPHA:453499
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm ORPHA:3093
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Lethal Kniest-Like Dysplasia
Abnormal cartilage morphology, Abnormal cartilage matrix ORPHA:2347
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Aortic root aneurysm, Carotid artery stenosis OMIM:618000
Fanconi Anemia, Complementation Group C
Flexion contracture, Leukemia, Prolonged G2 phase of cell cycle OMIM:227645
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix OMIM:245650
Cap Myopathy
Aortic root aneurysm ORPHA:171881
Laubry-Pezzi Syndrome
Dilatation of the sinus of Valsalva, Ascending tubular aorta aneurysm, Abnormal coronary artery m... ORPHA:99094
Scheie Syndrome
Cerebral palsy, Spastic paraparesis ORPHA:93474
Adult-Onset Still Disease
Cartilage destruction, Abnormal circulating lipid concentration, Elevated circulating C-reactive ... ORPHA:829
Eales Disease
Spastic paraparesis ORPHA:40923
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Ascending tubular aorta aneurysm ORPHA:536471
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm ORPHA:444072
Yuan-Harel-Lupski Syndrome
Double outlet right ventricle, Aortic root aneurysm OMIM:616652
Neonatal Marfan Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm ORPHA:284979
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Coarctation of aorta, Aortic root aneurysm, Hypoplastic aortic arch, Anxiety, Peripheral pulmonar... OMIM:617506
Koolen-De Vries Syndrome
Patent ductus arteriosus, Anxiety, Aortic root aneurysm, Conspicuously happy disposition OMIM:610443
Viss Syndrome
Epidural hemorrhage, Aortic root aneurysm, Left aortic arch with retroesophageal right subclavian... OMIM:619472
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Irritability, Type II diabetes mellitus, Aortic root aneurysm OMIM:618891
Marfan Syndrome
Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Aortic dissection, Aortic root ane... OMIM:154700
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic atherosclerotic lesion, Aortic root aneurysm, Intracranial hemorrhage, Coronary artery ath... ORPHA:363618
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm OMIM:130000
Congenital Heart Defects And Skeletal Malformations Syndrome
Coarctation of aorta, Aortic root aneurysm OMIM:617602
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Coarctation of aorta, Self-injurious behavior, Ascending tubular aorta aneurysm, Patent ductus ar... OMIM:612474
Contractural Arachnodactyly, Congenital
Patent ductus arteriosus, Aortic root aneurysm OMIM:121050
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Diabetes mellitus, Varicose veins, Carotid artery stenosis, Prominent veins... ORPHA:536532
Fanconi Anemia, Complementation Group E
Leukemia, Prolonged G2 phase of cell cycle OMIM:600901
Spondyloepiphyseal Dysplasia Tarda
Abnormal cartilage morphology, Paresthesia ORPHA:93284
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Aortic root aneurysm, Generalized arterial tortuosity, Arterial tort... OMIM:614437
Fanconi Anemia, Complementation Group A
Leukemia, Prolonged G2 phase of cell cycle OMIM:227650
Autosomal Dominant Polycystic Kidney Disease
Abnormal systemic arterial morphology, Dilatation of the cerebral artery, Aortic root aneurysm ORPHA:730
Phace Syndrome
Coarctation of aorta, Aortic root aneurysm, Tetralogy of Fallot, Abnormal carotid artery morpholo... ORPHA:42775
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
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm ORPHA:230851
Sotos Syndrome
Neonatal hypoglycemia, Aortic aneurysm, Anxiety, Patent ductus arteriosus, Aggressive behavior ORPHA:821
Cockayne Syndrome Type 3
Stroke, Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cognitive impairment, ... ORPHA:90324
Turner Syndrome Due To Structural X Chromosome Anomalies
Coarctation of aorta, Aortic arch aneurysm, Anxiety, Arterial dissection, Hyperinsulinemia, Gluco... ORPHA:99413
Turner Syndrome
Coarctation of aorta, Aortic arch aneurysm, Anxiety, Arterial dissection, Hyperinsulinemia, Gluco... ORPHA:881
Mosaic Monosomy X
Coarctation of aorta, Aortic arch aneurysm, Anxiety, Arterial dissection, Hyperinsulinemia, Gluco... ORPHA:99228
Monosomy X
Coarctation of aorta, Aortic arch aneurysm, Anxiety, Arterial dissection, Hyperinsulinemia, Gluco... ORPHA:99226
Blau Syndrome
Aortic aneurysm, Large vessel vasculitis ORPHA:90340
Fanconi Anemia, Complementation Group D2
Leukemia, Prolonged G2 phase of cell cycle OMIM:227646
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm OMIM:615349
Juvenile Idiopathic Arthritis
Cartilage destruction ORPHA:92
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm OMIM:616914
Zimmermann-Laband Syndrome 1
Patent ductus arteriosus, Aortic arch aneurysm, Aortic root aneurysm OMIM:135500
Cutis Laxa, Autosomal Recessive, Type Iid
Ascending tubular aorta aneurysm OMIM:617403
Loeys-Dietz Syndrome 5
Ascending aortic dissection, Aortic root aneurysm OMIM:615582
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm OMIM:245600
Opitz Gbbb Syndrome
Patent ductus arteriosus, Coarctation of aorta, Aortic root aneurysm, Persistent left superior ve... ORPHA:2745
Multiple Osteochondromas
Rib exostoses, Somatic sensory dysfunction, Scapular exostoses, Abnormal cartilage morphology, Os... ORPHA:321
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary window, Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic ro... OMIM:620025
Restrictive Dermopathy
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Transposition of the great arteries ORPHA:1662
Williams Syndrome
Stroke, Abnormal cerebral vascular morphology, Tetralogy of Fallot, Aortic arch aneurysm, Anxiety... ORPHA:904
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Aortic root aneurysm ORPHA:280633
X Small Rings
Aortic root aneurysm ORPHA:96201
1P36 Deletion Syndrome
Self-injurious behavior, Aortic arch aneurysm, Patent ductus arteriosus, Tetralogy of Fallot ORPHA:1606
Charge Syndrome
Patent ductus arteriosus, Aortic arch aneurysm, Interrupted aortic arch, Tetralogy of Fallot ORPHA:138
Hypermobile Ehlers-Danlos Syndrome
Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection ORPHA:285
Reactive Arthritis
Cartilage destruction, Enthesitis ORPHA:29207
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Patent ductus arteriosus, Hyperglycemia, Aortic root aneurysm ORPHA:444077
Au-Kline Syndrome
Aortic root aneurysm OMIM:616580
Microphthalmia, Syndromic 2
Umbilical hernia, Contracture of the proximal interphalangeal joint of the 3rd toe, Flexion contr... OMIM:300166
Alkaptonuria
Cartilage destruction, Calcification of cartilage ORPHA:56
Chromosome 1P36 Deletion Syndrome, Distal
Self-mutilation, Aortic root aneurysm, Tetralogy of Fallot, Patent ductus arteriosus, Aggressive ... OMIM:607872
Classical Ehlers-Danlos Syndrome
Arterial dissection, Dilatation of the cerebral artery, Arteriovenous fistula, Aortic root aneurysm 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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