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Gene: Lipi MGI:2443868

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
lipase, member I
Synonyms:
D930038D03Rik,  lpd1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Lipi 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... OMIM:615924
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... OMIM:610717
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal s... ORPHA:363400
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase, Gait disturbance OMIM:618400
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... OMIM:616516
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Sandhoff Disease, Adult Form
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul... ORPHA:309169
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Spinocerebellar Ataxia 37
Tremor, Unsteady gait, Frequent falls, Ataxia OMIM:615945
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoalbuminemia OMIM:620357
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spinal Muscular Atrophy, Jokela Type
Tremor, Elevated circulating creatine kinase concentration, Difficulty walking, Fasciculations OMIM:615048
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Neonatal death, Hyperalaninemia, Hepatic steatosis, Limb hypertonia OMIM:615918
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hypertonia, Dystonia, Failure to thrive, Hepati... ORPHA:26792
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... ORPHA:75234
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Obesity And Hypopigmentation
Red hair, Hepatic steatosis, Obesity OMIM:620195
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... OMIM:278000
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... OMIM:615558
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... ORPHA:209902
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... ORPHA:363710
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Generalized dystonia, Ataxia, Inability to walk, Chorea, Decreased live... ORPHA:70472
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,... ORPHA:521406
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Clumsiness, Increased LDL cholesterol concentration, Xan... OMIM:277460
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Elevated circulating alanine aminot... OMIM:618805
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Patent Ductus Venosus
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function OMIM:601466
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... OMIM:607616
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, R... OMIM:613280
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... OMIM:213600
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... OMIM:306000
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre... OMIM:619048
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Crigler-Najjar Syndrome Type 1
Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro... ORPHA:79234
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Babinski si... OMIM:264470
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Abnormality of the... OMIM:614307
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis ORPHA:280356
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ... ORPHA:276435
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... ORPHA:454887
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic ... OMIM:616719
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Ataxia, Micronodular... ORPHA:98907
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u... OMIM:617872
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hepatic steatosis, Hirsutism OMIM:608709
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... OMIM:267700
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Increased C-peptide level, Low anterior hairline, Low posteri... ORPHA:528
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... OMIM:300423
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... OMIM:614018
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... ORPHA:71
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus, Dystonia OMIM:619651
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... OMIM:617916
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Chorea, Abnormal circulating creatine... ORPHA:369840
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Tetraplegia, Hand tremor, Gait disturbance, Fasciculations, Mildly elevated creat... OMIM:604484
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level OMIM:615238
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Obesity, Limb dystonia OMIM:620270
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ... OMIM:604367
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Urocanic Aciduria
Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax... ORPHA:210128
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Griscelli Syndrome Type 1
Ataxia, Hyperlipidemia, White hair, Premature graying of hair, Hypertonia ORPHA:79476
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Hir... OMIM:610185
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Ddost-Cdg
Elevated hepatic transaminase, Tremor, Oromotor apraxia, Failure to thrive, Hepatic steatosis ORPHA:300536
Peroxisome Biogenesis Disorder 5B
Very long chain fatty acid accumulation, Ataxia, Tremor, Unsteady gait, Elevated circulating phyt... OMIM:614867
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obesity, Abnormal c... OMIM:615980
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia OMIM:261630
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Small for gestational age OMIM:278780
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Stepp... OMIM:618387
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Hepatosplenomegaly, Myocl... ORPHA:2590
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... ORPHA:397946
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hyperlipidemia, Portal fibrosis, ... ORPHA:369
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Ataxia, Hepatic steatosis OMIM:275630
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic... OMIM:619013
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... ORPHA:567983
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia, Obesity OMIM:617885
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating asparta... OMIM:619386
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... ORPHA:42
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Ataxia, Tremor, Rigidity, Premature graying of hair, Hypertonia, Spasti... ORPHA:33445
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive ORPHA:477673
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of ambulation OMIM:615010
Acquired Partial Lipodystrophy
Hepatic steatosis, Generalized hirsutism ORPHA:79087
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Increase... OMIM:603553
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ... ORPHA:79303
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly OMIM:613101
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... OMIM:606069
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bra... OMIM:261640
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia OMIM:608600
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Overweight, Obesity, Truncal obesity, Hyperchole... OMIM:616222
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... OMIM:612716
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Hepatic steatosis OMIM:615119
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Hypermanganesemia With Dystonia 2
Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park... OMIM:617013
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... OMIM:612736
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Recurrent... ORPHA:444490
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait OMIM:600363
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Hepatomegaly, Elevated hepatic transaminase, Dystonia, Ataxia, Elevated circulati... OMIM:615356
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadocho... ORPHA:254881
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduced haptoglobin level OMIM:612126
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Waddling gait OMIM:616269
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:264580
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... ORPHA:2088
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia OMIM:610245
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis ORPHA:79085
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus OMIM:619028
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga... OMIM:617093
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia... OMIM:208920
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Broad-based gait, Spastic tetraparesis, Small nail OMIM:619470
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Vocal co... ORPHA:98863
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancreatitis, Abnormality of the nail, Hepatic ... ORPHA:2348
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Vocal co... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Vocal co... ORPHA:98853
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo... OMIM:606159
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
3-Methylglutaconic Aciduria, Type V
Ataxia, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic ste... OMIM:610198
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a... OMIM:615381
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancreatitis, Hyperuricemia, Cirrhosis, Hepatic... ORPHA:79083
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... OMIM:619405
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance ORPHA:101075
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Obesity,... ORPHA:98855
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellular lipid droplets, De... OMIM:612016
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:212140
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis ORPHA:435651
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... ORPHA:48818
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... ORPHA:98908
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... ORPHA:79263
Saccharopinuria
Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin... ORPHA:3124
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetopr... OMIM:251880
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia ORPHA:306669
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... ORPHA:79322
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Chorea, Hyperammonemia, Opisthotonus, Tetraparesis, Myoclonus, ... OMIM:616672
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... ORPHA:101330
Smith-Magenis Syndrome
Hypercholesterolemia, Synophrys, Hypertriglyceridemia, Increased body weight OMIM:182290
Ataxia-Telangiectasia
Elevated hepatic transaminase, Hypopigmentation of hair, Ataxia, Tremor, Premature graying of hai... ORPHA:100
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... ORPHA:209335
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Myoclonus, Dif... OMIM:159950
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance ORPHA:101078
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Alopecia, Chronic active ... OMIM:203800
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Broad-based gait, Ataxia, Elevated circul... OMIM:256810
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Elevated circulating creatine kinase concentration, Fasciculations, Hepatic steato... ORPHA:52430
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Obesity ORPHA:329249
Atypical Rett Syndrome
Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Gait ataxia, Pill-rol... ORPHA:3095
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... OMIM:618641
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated... OMIM:615673
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce... ORPHA:435660
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Tip-toe gait, Gait di... OMIM:302800
Behr Syndrome
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity... OMIM:210000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Hypertonia, Hepatomegaly, Abnormal blood inorganic cation concentration... ORPHA:309854
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic gait OMIM:616795
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas... OMIM:612953
Bardet-Biedl Syndrome 19
Hepatic steatosis, Obesity OMIM:615996
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hypoalbuminemia, ... ORPHA:14
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis... ORPHA:445038
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Spastic tetraparesis, Portal hyp... OMIM:619487
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cirrhosis, Abnormal circulating lipid con... ORPHA:79086
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Obesity, Shuffling... ORPHA:3077
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,... OMIM:617435
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Spastic tetraparesis... OMIM:614924
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Synophrys, Obesity, Gait disturbance, Hyperch... ORPHA:819
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Tremor... OMIM:617988
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... ORPHA:70594
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... OMIM:613327
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb ... OMIM:233910
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Stillbirth, Tongue fasciculations, Myoclonus, Decreased liver function, Neonatal de... OMIM:614922
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Tremor, Babinski sign, Slurred speech, Unsteady gait, Clumsiness, Poor fine motor... ORPHA:137898
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... OMIM:619418
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
Griscelli Syndrome Type 2
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Hyperlipidemia, Jaundice, Premature graying... ORPHA:79477
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Opisthotonus OMIM:210200
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Mandibuloacral Dysplasia
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Sparse hair, Hyperch... ORPHA:2457
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... OMIM:312080
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:232400
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... ORPHA:442835
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Tremor, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, Spast... OMIM:616271
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... OMIM:137440
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hepatocellular carcinom... OMIM:277900
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Ataxia, Gait disturbance ORPHA:99014
Chédiak-Higashi Syndrome
Hyponatremia, Elevated hepatic transaminase, Hypopigmentation of hair, Hypertriglyceridemia, Atax... ORPHA:167
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hepatic steatosis, Panc... OMIM:236200
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Increased hepatic glycogen content, Large for gestational age, Increased circula... ORPHA:293964
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Tremor ORPHA:66633
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Gait disturbance, Decreased ... ORPHA:436271
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... ORPHA:1414
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr... ORPHA:99901
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Low plasma citrulline, Elevated circulating alanine aminotransferase concentration,... OMIM:261680
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Ataxia OMIM:617575
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipide... ORPHA:189427
Microtriplication 11Q24.1
Speech apraxia, Hyperlipidemia, Synophrys, Obesity, Hyperkinetic movements, Long eyelashes, Thick... ORPHA:289522
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:540
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Increased hepatic g... OMIM:261750
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Ataxia, Tremor, Dysmetria, Hypoal... OMIM:212065
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Cln5 Disease
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... ORPHA:228360
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... OMIM:168605
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ambulation, Spasticity OMIM:607694
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Werner Syndrome
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Elevated hem... OMIM:277700
Cimdag Syndrome
Hepatomegaly, Ataxia, Microvesicular hepatic steatosis, Chorea, Dystonia, Cholelithiasis, Spasticity OMIM:619273
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu... OMIM:300972
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepatocellular ... OMIM:201475
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis ORPHA:977
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Truncal obesity, Hyperkinetic movem... OMIM:300957
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Synophrys, Obesity, Hepatic steatosis, Generalized hirsutism ORPHA:254346
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... ORPHA:298
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... ORPHA:101
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Spleno... ORPHA:280365
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Babinski sign, Cholestasis, Tip-toe gait, Hypocalcemia, Diffuse hep... ORPHA:746
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... OMIM:151660
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... OMIM:615486
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Abnormal intra... ORPHA:363618
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Failure to thrive, Ataxia, Tremor, Splenomegaly, Paronychia, Decreased serum zinc, ... OMIM:201100
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Alopecia, Broad-based gait, Small for ge... ORPHA:2959
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Failure to thrive OMIM:617591
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Lower limb spasticity, Ataxia, Microvesicular hepatic steatosis, D... ORPHA:66634
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Babinski sign, Unsteady gait, Limb ataxia, Clumsiness, Gait ataxia, Gait disturbance, Tru... OMIM:619259
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Steppage gait, Myoclonus, Inte... OMIM:616505
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... ORPHA:541423
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Obesity ORPHA:66628
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate... OMIM:617253
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... OMIM:619377
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Conjugated hyperbilirubinemia... OMIM:617156
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Obesity ORPHA:179494
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T... OMIM:614298
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:608836
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,... ORPHA:470
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Synophrys, Inability to walk, Low anterior hairline, Low posterior ha... OMIM:617303
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia, Hypersplenis... ORPHA:77293
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Nodula... ORPHA:404454
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Ataxia, Pancreatic fibrosis, Dysmetria, Hepatic fibrosis, Steatorrhea, Failure to t... OMIM:616263
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis ORPHA:210548
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Brittle hair, Ataxia, Cholangitis, Microvesicula... OMIM:124000
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Increased circulating ... ORPHA:158048
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoalbuminemia, Macrovesicular hepatic steatosis, Decreased liver... OMIM:618329
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Dystonia, Increased serum beta-hexosaminidase, Abno... ORPHA:845
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Neonatal death, Elevated circulating glutaric acid concentration, Hepatic... OMIM:231680
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:201450
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Hypertriglyceridemia, Small for gestational age, Clonus, Babinski sign, Dysmet... OMIM:606721
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Unsteady gait, Choreoathetos... ORPHA:17
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Nail dystrophy, Small nail OMIM:610644
Myopathy, Mitochondrial, And Ataxia
Ataxia, Thick hair, Elevated circulating creatine kinase concentration, Tremor, Inability to walk... OMIM:617675
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia OMIM:619313
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:212138
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ataxia, Spastic hemiparesis, Jau... ORPHA:20
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis OMIM:231530
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hyperlipidemia, Hepatocellular adenoma, Xa... ORPHA:79259
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Tremor, Abnormal circulat... ORPHA:263455
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase... ORPHA:79095
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Failure to thrive ORPHA:2089
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:228308
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly OMIM:619802
Aromatase Deficiency
Eunuchoid habitus, Hyperlipidemia, Obesity, Hepatic steatosis, Generalized hirsutism ORPHA:91
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... OMIM:616586
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... OMIM:614381
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia OMIM:618060
Xp21 Deletion Syndrome
Spasticity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Elevated circulating creatine kinase concentration, Fasciculations OMIM:313200
Classic Phenylketonuria
Hypopigmentation of hair, Tremor, Paraplegia, Hypertonia, Hyperphenylalaninemia, Hemiplegia ORPHA:79254
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Ataxia, Decreased liver function, Increased intramyocellular lipid droplets, Trunca... OMIM:220110
H Syndrome
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Hepatosplenomegaly, Hypertrichosis ORPHA:168569
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Ataxia, Pa... OMIM:203700
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... OMIM:608594
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Hypokalemia, Weight loss, Periodic paralysis OMIM:613239
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168600
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Increased circulating ... ORPHA:90041
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... OMIM:269700
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, N... ORPHA:348
Monosomy 13Q34
Hepatic steatosis, Horizontal eyebrow, Hypercalcemia, Obesity ORPHA:96168
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
Sézary Syndrome
Hepatomegaly, Alopecia, Tremor, Splenomegaly, Nail dystrophy ORPHA:3162
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Synophrys, Hypertonia, Decreased body weight, Hepatic steatosis, Intention tremor, Ataxia... OMIM:619475
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Thick hair, Tremor, Dysmetria, Increased muscle glycogen content, Progressive cerebellar ataxia, ... ORPHA:502423
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... OMIM:261515
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia ORPHA:683
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Loss of ambulation... OMIM:607426
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Highly arched eyebrow, Portal hypertension, ... ORPHA:1454
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Small for gestational age, Tremor, Abnormality of the pancreas, Ja... ORPHA:69665
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... OMIM:606002
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... ORPHA:99027
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Pancreatic fibrosis, Small for gestational a... ORPHA:699
Aicardi-Goutieres Syndrome 7
Lower limb spasticity, Hepatomegaly, Spastic tetraparesis, Increased circulating ferritin concent... OMIM:615846
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Hypertriglyceridemia, Failure to thrive, Abnormal hair morpholo... ORPHA:79474
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Nail dystrophy, Hypocholesterolemia ORPHA:31150
Ataxia-Telangiectasia
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal hair morphology, Tremor, I... OMIM:208900
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Alagille Syndrome 1
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... OMIM:118450
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Spars... OMIM:619127
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Hyperlysinemia
Neck hypertonia, Failure to thrive, Poor motor coordination, Spastic tetraparesis, Tremor, Spasti... ORPHA:2203
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hypouricemia, Increased circulating guanosine concentration, Tremor, Splenomegaly, Spasti... OMIM:613179
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbiliru... OMIM:229600
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Triosephosphate Isomerase Deficiency
Dystonia, Tremor, Splenomegaly, Jaundice, Unsteady gait, Cholecystitis, Prolonged neonatal jaundi... OMIM:615512
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Tetraplegia, Hepatocellular necrosis, Hepatosplen... OMIM:618278
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age OMIM:256300
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Liver Disease, Severe Congenital
Dry hair, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypo... OMIM:619991
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hem... ORPHA:512
Glycerol Kinase Deficiency
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Chronic pancreatitis OMIM:307030
Bloom Syndrome
Small for gestational age, Hepatic steatosis, Elevated hemoglobin A1c, Hypertrichosis OMIM:210900
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Small for gestational age, Slender build, Portal hypertension, Cho... OMIM:613658
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Ataxia, Failure to t... ORPHA:3008
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Absent eyebrow, Hypertriglyceridemia, Alopecia, Sparse eyelashes, Failure to t... OMIM:264090
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... OMIM:618056
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... OMIM:256040
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Small for gestational age, Highly arched eyebrow, Increased hepatocellular lipi... OMIM:220111
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Small for gestational age, Tremor, Hyperammonemia, Neonatal death, Hyperalaninemia, Failu... OMIM:614052
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Hypertriglyceridemia, Ataxia, Slender build, Action tremor, Tremor, Synophrys,... ORPHA:3455
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... ORPHA:1578
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Obesity ORPHA:369837
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Hypertriglyceridemia ORPHA:536532
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Abnormal pyramidal sign, Fine hair, Premature graying of hair, Abnormality of ext... OMIM:612199
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Abnormality of the liver, Limb ... ORPHA:646
Woodhouse-Sakati Syndrome
Alopecia, Hyperlipidemia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor functio... OMIM:241080
Chediak-Higashi Syndrome
Hepatomegaly, Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Splenomegaly, Jaundice,... OMIM:214500
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Babinski sign, Hypertonia, Cirrhosis, Spasticity, Failure to thr... OMIM:616539
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... ORPHA:93111
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis,... OMIM:300868
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Arima Syndrome
Hepatomegaly, Ataxia, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Alopecia, Hepatic steatosis, Abdominal obesity OMIM:619321
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... OMIM:601104
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Broad-based gait, Po... OMIM:619503
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Hemiplegia/hemiparesis, Abnormality of the spleen, Obesity, Abnormal... ORPHA:1606
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Hyperlipidemia, Brittle hair OMIM:608612
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Obesity, Tetra... ORPHA:79102
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Nail dystrophy ORPHA:90154
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Hyperlipidemia, Hemiparesis, Hemiplegia, Failure to thrive, Pancreatitis ORPHA:1830
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Hepatic steatosis OMIM:619934
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Splenomegaly, Cholestatic liver disease, Hypertonia, Hypoalbuminemia, Elevated circ... OMIM:270400
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Sparse scalp hair, Alopecia, Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Onyc... OMIM:248370
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, X... OMIM:232220
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, Failure to thrive in inf... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, Failure to thrive in inf... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, Failure to thrive in inf... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, Failure to thrive in inf... ORPHA:99226
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatoce... OMIM:232200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Breast aplasia ORPHA:90153
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Jaundice, Hypertonia, Dystonia, Neonatal death, Failure to thrive OMIM:617248
Ogden Syndrome
Torticollis, Sparse eyebrow, Microvesicular hepatic steatosis, Jaundice, Fine hair, Hypertonia, L... OMIM:300855
African Trypanosomiasis
Hepatomegaly, Alopecia, Abnormal central motor function, Involuntary movements, Akinesia, Paralys... ORPHA:3385
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemiparesis, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:235400
Alström Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Ataxia, Portal hypertension, Hepatitis, Obesit... ORPHA:64
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Woodhouse-Sakati Syndrome
Alopecia, Hyperlipidemia, Choreoathetosis, Dystonia, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Glycogen Storage Disease Ic
Hepatomegaly, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatocellular ca... OMIM:232240
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, I... ORPHA:565612
Digeorge Syndrome
Splenomegaly, Obesity, Hemiparesis, Hypocalcemia, Cholelithiasis, Hepatic steatosis OMIM:188400
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis ORPHA:391665

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 Lipi

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 Lipi.

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

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MGI Allele Allele Type Produced
Lipitm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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