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Gene: Acp6 MGI:1931010

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Gene Summary

Name:
acid phosphatase 6, lysophosphatidic
Synonyms:
5730559A09Rik,  ACPL1,  mPACPL1

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
tremors Acp6em1(IMPC)Hmgu HOM Early adult 3.37×10-05
increased circulating serum albumin level Acp6em1(IMPC)Hmgu HET Early adult 3.66×10-06
preweaning lethality, incomplete penetrance Acp6em1(IMPC)Hmgu HOM   Early adult 0.00705

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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.

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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Human diseases caused by Acp6 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 Acp6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia ORPHA:210571
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... ORPHA:314978
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Diarrhea 13
Hypoalbuminemia OMIM:620357
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... ORPHA:216873
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia OMIM:128235
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia OMIM:613752
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria ORPHA:363710
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Urocanase Deficiency
Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait OMIM:600363
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... ORPHA:71517
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia ORPHA:324588
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia OMIM:610245
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Urocanic Aciduria
Action tremor, Ataxia, Truncal ataxia, Gait ataxia ORPHA:210128
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia OMIM:618049
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus OMIM:619028
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia ORPHA:306669
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia OMIM:617916
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... ORPHA:240085
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... OMIM:618877
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... ORPHA:79263
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia OMIM:619911
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intention tremor OMIM:610185
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... OMIM:261640
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus OMIM:614018
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Dysmetria, Gait ataxia OMIM:618090
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,... ORPHA:420492
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Spinocerebellar Ataxia Type 21
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis OMIM:614831
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Lopes-Maciel-Rodan Syndrome
Tremor, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia, Spasticity OMIM:617435
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... ORPHA:101
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait OMIM:616795
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls OMIM:616719
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... OMIM:617013
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... OMIM:128100
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Cystathioninuria
Tremor ORPHA:212
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Ataxia, Dysmetria, Titubation OMIM:619405
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... OMIM:613280
Spinocerebellar Ataxia Type 27
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia ORPHA:98764
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... OMIM:242150
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Ataxia ORPHA:99014
Behr Syndrome
Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ataxia, Frequent falls OMIM:210000
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Spasticity OMIM:607694
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia OMIM:618060
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... ORPHA:240071
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Pelizaeus-Merzbacher Disease
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... OMIM:312080
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:168600
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... OMIM:614381
Leishmaniasis
Hypoalbuminemia ORPHA:507
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity OMIM:616586
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:615530
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia ORPHA:240094
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor... OMIM:614298
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... ORPHA:48818
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:168605
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 Autosomal Dominant Leukodystrophy
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... ORPHA:99027
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia OMIM:251880
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Head ... OMIM:606002
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... ORPHA:89842
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia... ORPHA:14
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... OMIM:277900
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis OMIM:222470
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... ORPHA:90363
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig... ORPHA:2298
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C... OMIM:234200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis, Limb d... OMIM:601104
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia OMIM:270400
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Pmm2-Cdg
Reduced thyroxin-binding globulin, Hypoalbuminemia ORPHA:79318

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 Acp6

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 Acp6.

No publications found that use IMPC mice or data for Acp6.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Acp6em1(IMPC)Hmgu Exon Deletion Mice
Acp6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Acp6tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Acp6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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