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Gene: Pgam5 MGI:1919792

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Gene Summary

Name:
phosphoglycerate mutase family member 5
Synonyms:
2610528A17Rik

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
decreased circulating serum albumin level Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 6.47×10-08
decreased exploration in new environment Pgam5tm1b(EUCOMM)Wtsi HOM   Early adult 8.01×10-12
increased mean corpuscular volume Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 2.22×10-07
short tibia Pgam5tm1b(EUCOMM)Wtsi HOM   Early adult 9.88×10-06
decreased circulating total protein level Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 3.62×10-06
decreased circulating HDL cholesterol level Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 7.37×10-05
decreased circulating glucose level Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 5.64×10-08
increased circulating creatinine level Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 4.99×10-07
decreased circulating cholesterol level Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 6.15×10-05
decreased erythrocyte cell number Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 2.02×10-06
decreased total retina thickness Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 9.72×10-08

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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 Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Pgam5 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 Pgam5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Degeneration of the... OMIM:609161
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... ORPHA:98762
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... ORPHA:306692
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involu... ORPHA:454887
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle... ORPHA:100984
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... OMIM:300423
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait disturbance OMIM:600116
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp... ORPHA:240094
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Gait ... OMIM:221820
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... OMIM:300894
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Neuronal loss in central nervous... OMIM:143100
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia ORPHA:210571
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Impaired distal vibration sensation... OMIM:128230
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Free... OMIM:619911
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Babinski sign, Br... OMIM:619063
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Rigidity, C... OMIM:607136
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Bradykin... ORPHA:521406
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Bradykinesia, Gait disturb... OMIM:618418
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Bradykinesia, Frontotemporal cerebr... ORPHA:412066
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Manganese Poisoning
Postural tremor, Akinesia, Abnormality of mitochondrial metabolism, Cogwheel rigidity, Bradykines... ORPHA:306682
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai... OMIM:615528
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegeneration, S... OMIM:615643
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... OMIM:616710
Dystonia 16
Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal sign, Bradykinesia, Gait... OMIM:612067
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Ba... OMIM:615157
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Parkinsonism, Akinesia, Postural tremor, Limb ataxia, Gait ataxia, Co... OMIM:607454
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Spastic Paraplegia Type 7
Cerebellar atrophy, Somatic sensory dysfunction, Babinski sign, Abnormal pyramidal sign, Impaired... ORPHA:99013
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... ORPHA:248111
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia ORPHA:71517
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Brain atrophy, Cerebral cort... ORPHA:306669
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, B lympho... OMIM:241600
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia OMIM:128235
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Diminished mo... ORPHA:240103
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Rigidity, Chorea, Cerebral atrophy, Cogwheel rigidity, Choreoathetosis, Hyper... OMIM:616981
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Bradykinesia, Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis OMIM:619052
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia OMIM:618824
Diarrhea 13
Recurrent hypoglycemia, Hypoalbuminemia OMIM:620357
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharospasm, Slowed slur... ORPHA:240071
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer flask deformity of the femur... OMIM:610539
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... OMIM:617435
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Huntington Disease
Caudate atrophy, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sig... ORPHA:399
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Tr... OMIM:618249
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Diminished movement, Babinski sign, Ab... ORPHA:97349
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia, Pedal edema OMIM:152800
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Mitochondrial hypertrophy, Babinski sign, Impaired proprioception, ... OMIM:500013
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Parkinsonism, Bradykinesia, Hypertonia, Limb hypertonia OMIM:617384
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Pes cavus, Distal lower limb muscle weakness, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Dysmetri... OMIM:603516
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Short stepped shuffling gait OMIM:168605
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, H... ORPHA:247585
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Parkinsonism with favorable response to dopaminergic medic... ORPHA:240085
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Hypokine... ORPHA:238455
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmetria, ... ORPHA:98755
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... OMIM:300623
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Ataxia, Cerebral atrophy, Distal sensory impairment, Bradykinesia, Cogwheel r... ORPHA:254886
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor OMIM:610297
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology, Spastic tetraplegia, Choreoathetosis, Spasticity, Cerebral cor... OMIM:300438
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Rigidity... OMIM:183090
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Ataxia, Tremor, Rigidity OMIM:617836
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... OMIM:603553
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Pes cavus, Hypoalbuminemia OMIM:607250
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... OMIM:616860
Parkinsonism With Polyneuropathy
Resting tremor, Diffuse cerebral atrophy, Rigidity, Bradykinesia, Parkinsonism with favorable res... OMIM:619279
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbuminemia, Thrombocytosis, Hypoprote... OMIM:226300
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Spasticity, Cerebral c... OMIM:616840
Congenital Myopathy 9A
Cryptorchidism, Tongue fasciculations, Akinesia OMIM:618822
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction OMIM:500001
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor gait, Cerebra... OMIM:617013
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... ORPHA:98870
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... OMIM:617854
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... OMIM:617021
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Bradykinesia, Ble... OMIM:606159
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Cerebral atrophy, Gait ataxia... OMIM:618877
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, ... OMIM:209950
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Hand tremor, Bradykinesia, Blepharospasm, Shuffling gait, Difficulty walk... ORPHA:53351
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Gait disturbance, Difficulty walking ORPHA:352470
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Cerebral cortical atrophy, Action tremor OMIM:606438
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Decreased activity of mitochondrial complex IV, Tetraplegia, Tongue fascic... OMIM:300816
Alg6-Cdg
Decreased LDL cholesterol concentration, Shortening of all distal phalanges of the fingers, Hypoa... ORPHA:79320
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple... OMIM:300055
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Congenital Analbuminemia
Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hyp... ORPHA:86816
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Hypokinesia, Rigidity, Bradykinesia, Gait disturbance, Shuffling ga... OMIM:168601
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Falls,... ORPHA:13
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... OMIM:616050
Cln3 Disease
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Increased circulating androgen conc... ORPHA:228346
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Limb hypertonia OMIM:261640
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Rigidity, Unsteady gait, Limb ataxia, G... ORPHA:98760
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism OMIM:605909
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Parkinsonism, Rigidity, Tremor, Cerebral atrophy, Bradykinesia, Spastic parap... ORPHA:329284
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Generalized cerebral ... ORPHA:36387
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia OMIM:613752
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Combined Oxidative Phosphorylation Deficiency 1
Decreased activity of mitochondrial ATP synthase complex, Hypokinesia, Decreased activity of mito... OMIM:609060
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Shuffling gait, Parkinsonism with... ORPHA:411602
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Primary Membranoproliferative Glomerulonephritis
Drusen, Hypoalbuminemia ORPHA:54370
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gai... ORPHA:289560
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Dementia, Hypoalbuminemia, Cognitive impairme... OMIM:208920
Machado-Joseph Disease
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Parkinsonism, Facial-lingual fasciculat... OMIM:109150
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuolar degeneration, ... OMIM:609454
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degen... OMIM:601104
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Dysmetria, Gait ataxia, Bradykinesia, Hemiparesis, Truncal ataxia, Episod... OMIM:601338
Diaminopentanuria
Neurodegeneration, Spasticity, Ataxia OMIM:222350
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Hypokinesia, Sensory ataxia OMIM:618184
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Shuffling gait, Gait imbalance, D... ORPHA:75567
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Decreased activity of mitochondrial respiratory chain, Akinesia, Spastic tetraplegia, Hypertonia,... OMIM:619147
Aceruloplasminemia
Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Ri... ORPHA:48818
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... OMIM:616959
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... OMIM:137440
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Ataxia-Oculomotor Apraxia 4
Cognitive impairment, Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprote... OMIM:616267
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... OMIM:226990
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... OMIM:620211
Multiple System Atrophy, Cerebellar Type
Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sig... ORPHA:227510
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia OMIM:619013
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n... OMIM:617872
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Multiple System Atrophy
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:102
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, B... ORPHA:98768
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit... ORPHA:90362
Maternal Uniparental Disomy Of Chromosome 4
Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent... ORPHA:96180
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti... OMIM:619725
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Ataxia, Tongue fasciculations, Hypokinesia OMIM:620007
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Combined Oxidative Phosphorylation Deficiency 2
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:610498
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Parkinsonism, Impaired distal proprioception, Rigidity, Impaired distal vibra... OMIM:258450
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... ORPHA:507
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Dravet Syndrome
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... ORPHA:33069
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia OMIM:300946
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Oslam Syndrome
Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma... ORPHA:2760
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:98933
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Syndactyly, Hyperhomocystinemia, Increased me... ORPHA:2169
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm... OMIM:613280
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... ORPHA:158061
Fibronectin Glomerulopathy
Hypoalbuminemia, Pedal edema ORPHA:84090
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive OMIM:619518
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia OMIM:618805
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Bradykinesia, Gait ataxia, Gait ... ORPHA:225147
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplasia, Metaphys... ORPHA:811
Adult-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination, Difficulty walking ORPHA:171442
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Spinocerebellar Ataxia 28
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... OMIM:610246
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Neuronal loss in central ner... ORPHA:683
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Talipes equinovarus, Camp... OMIM:608104
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Tremor, Inability to walk, Abnormality of the mitoc... ORPHA:330050
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Hypoalbuminemia, Mental deterioration, Lymphopenia OMIM:617575
Diamond-Blackfan Anemia 6
Macrocytic anemia, Micrognathia, Short thumb, Persistence of hemoglobin F, Increased mean corpusc... OMIM:612561
Squalene Synthase Deficiency
Optic nerve hypoplasia, Increased circulating farnesol concentration, Micrognathia, Decreased LDL... OMIM:618156
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Cerebral atrophy... OMIM:610217
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration OMIM:610951
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromb... ORPHA:54057
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Abnormality of r... ORPHA:167
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Increased mitochondrial number, Decreased activity of mitochondrial complex I, Dysmetria OMIM:615578
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Neuronal loss in central nervous sy... OMIM:168600
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Impaired vibration s... ORPHA:98808
Nephrotic Syndrome, Type 11
Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Hypoalbuminemia, Hypercholest... OMIM:616730
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... OMIM:608030
Congenital Disorder Of Glycosylation, Type Ij
Clinodactyly of the 5th finger, Hypoproteinemia, Micrognathia OMIM:608093
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:2070
Fetal Akinesia Deformation Sequence
Cryptorchidism, Hypokinesia, Akinesia ORPHA:994
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypoproteinemia, Anemia ORPHA:2315
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Preeclampsia
Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Childhood-Onset Nemaline Myopathy
Waddling gait, Clumsiness, Poor fine motor coordination, Bradykinesia, Difficulty walking ORPHA:171439
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling OMIM:618250
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... OMIM:612953
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Abnormal mitochondrial shape, Unsteady gait, Cerebral atrophy, Gait disturban... ORPHA:412217
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Irritability, H... ORPHA:292
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... ORPHA:300298
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Gait disturban... ORPHA:93256
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Mitochondrial swelling OMIM:615595
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Cognitive i... ORPHA:64743
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Insulin ... ORPHA:2298
Wolcott-Rallison Syndrome
Hyponatremia, Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia... ORPHA:1667
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Hypoalbuminemia OMIM:618347
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Bradykinesia, Blepharospasm, Parkinsonism with favorab... OMIM:606324
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy OMIM:602541
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Neuroferritinopathy
Resting tremor, Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Brad... ORPHA:157846
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Hypoplasia ... OMIM:607143
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... ORPHA:466722
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Micrognathia ORPHA:446
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Retinopathy ORPHA:71
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia, Cognitive impairment ORPHA:364
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Elevated circulating creatinine concentration, Bowing of the legs OMIM:615605
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p... OMIM:612319
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h... ORPHA:35878
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Hypergonadotropic hypogonadism, Parkinsonism, Impaired distal proprioception, Rig... OMIM:157640
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Peroxisome Biogenesis Disorder 3B
Retinal dystrophy, Elevated circulating phytanic acid concentration, Steatorrhea, Rod-cone dystro... OMIM:266510
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Shuffling gait, Myo... ORPHA:171695
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,... OMIM:615491
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Hypoproteinemia, ... OMIM:615895
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... OMIM:617052
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Abnormal mitochondrial shape ORPHA:543470
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... ORPHA:158048
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micrognathia, Splenomegaly, Postaxial hand polydactyly, Hypocalcemia, Hypoproteinemia OMIM:235255
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Brachydactyly, Rhizomelia, Short iliac bones, Metaphyseal widening, Elevated circulating creatini... OMIM:614376
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Rigidity, Tremor, Bradykinesia, Limb hypertonia ORPHA:70594
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Diabetes mellitus, Hyperthyroidism, Ataxia, Tremor, Rigidity,... ORPHA:254892
Osteopetrosis, Autosomal Recessive 9
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Retinal cotton wool spot, Progressive neurologic deterioration, Abnormal retin... ORPHA:247691
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... ORPHA:90041
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Metaphyseal widening, Optic atrophy, Clubbing, Anemia, Leukopenia, Chorioretinal hy... OMIM:617303
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Congenital Myopathy 12
Akinesia OMIM:612540
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spasticity OMIM:615889
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Muscular Hypertonia, Lethal
Hypertonia, Hypokinesia OMIM:254120
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration OMIM:146500
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb... ORPHA:540
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Difficulty walking, Increased se... ORPHA:778
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Tongue fasciculations, Hypokinesia ORPHA:238329
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Abetalipoproteinemia
Reticulocytosis, Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Hy... ORPHA:14
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Confusion, Schistocytosis, Elevated circulating creatinine concentration, Microa... OMIM:274150
Slc35A2-Cdg
Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct... ORPHA:356961
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Progressive neurologic deterioration, Chorioretinal hyperpigmentation, Optic atroph... OMIM:618329
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Micrognathia, Splenomegaly, Postaxial hand polydactyly, Hepatosplenomegaly, Hypocalcemia, Hypopro... ORPHA:1655
Mpi-Cdg
Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Alg12-Cdg
Hyponatremia, Retinal detachment, Sandal gap, Proximal placement of thumb, Micrognathia, Long fin... ORPHA:79324
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized ami... OMIM:251880
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... ORPHA:91547
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Tongue fasciculations, Hypokinesia, Clumsiness OMIM:614707
S-Adenosylhomocysteine Hydrolase Deficiency
Short attention span, Pes planus, Elevated circulating creatine kinase concentration, Abnormal ci... ORPHA:88618
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Decreased activity ... ORPHA:17
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Huntington Disease-Like 3
Broad-based gait, Extrapyramidal muscular rigidity, Caudate atrophy, Chorea, Abnormal pyramidal s... ORPHA:157946
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231226
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Clubbing, Hypoalbuminemia OMIM:614441
C3 Glomerulopathy
Drusen, Yellow/white lesions of the retina, Central serous chorioretinopathy, Elevated circulatin... ORPHA:329918
Gaucher Disease, Perinatal Lethal
Hypokinesia, Akinesia, Opisthotonus OMIM:608013
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Pa... OMIM:242150
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Beta-Thalassemia Major
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231214
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia, Clubbing OMIM:174900
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Rigidity, Parkinsonism OMIM:614251
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Diamond-Blackfan Anemia 7
Macrocytic anemia, Short thumb, Increased mean corpuscular volume, Triphalangeal thumb, Neutropenia OMIM:612562
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea OMIM:602579
Parkinson Disease 21
Bradykinesia, Tremor, Rigidity, Parkinsonism OMIM:616361
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia ORPHA:664
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Hip dysplasia, Increased mean ... ORPHA:261250
Liver Failure, Infantile, Transient
Irritability, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pedal edema, H... ORPHA:247353
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Abnormal retinal morphology OMIM:219750
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... OMIM:620306
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Micrognathia, Absent thumb, Erythroid hypoplasia, ... ORPHA:124
Coach Syndrome 2
Elevated circulating creatinine concentration, Chorioretinal coloboma OMIM:619111
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Potocki-Lupski Syndrome
Micrognathia, Hypocholesterolemia OMIM:610883
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Mental deterioration, Normochromic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:254900
Diamond-Blackfan Anemia 1
11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Short thumb, Ab... OMIM:105650
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia OMIM:617093
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Chorioretinal atrophy, Optic atrophy, Hepatosplenomegaly, Irritability, Hypoalb... OMIM:619487
Fetal Akinesia Syndrome, X-Linked
Hypokinesia OMIM:300073
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Friedreich Ataxia
Impaired vibratory sensation, Diabetes mellitus, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:229300
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia OMIM:258865
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Slowed slurred speech OMIM:619827
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Confusion, Abnormality of the lower limb, Ele... ORPHA:36234
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Macular hypoplas... OMIM:609049
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Hypocholesterolemia, Steatorrhea OMIM:607765
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia ORPHA:6
Ataxia-Telangiectasia
Abnormality of chromosome stability, Diabetes mellitus, Ataxia, Tremor, Gait disturbance, Type II... ORPHA:100
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia,... OMIM:619055
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Ble... ORPHA:306674
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Depression, Decreased serum zi... ORPHA:89842
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Gait imbalance, Spasticity ORPHA:2828
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Diminished movement, Babinski sign, Limb tremor, Chore... OMIM:608643
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa... ORPHA:3385
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Babinski sign, Decreased activity of mitochondrial complex IV, Decreased ac... OMIM:614924
Wilson Disease
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, ... OMIM:277900
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Sandal gap, Small hand, Short foot, Iron deficiency anem... OMIM:618885
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Dpagt1-Cdg
Ataxia, Akinesia, Tremor, Inability to walk, Hypertonia, Cerebral cortical atrophy, Global brain ... ORPHA:86309
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... OMIM:601559
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... OMIM:615160
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hypertonia, Gait distur... ORPHA:309854
Liver Disease, Severe Congenital
Hyponatremia, Short attention span, Elevated circulating alpha-fetoprotein concentration, Microgn... OMIM:619991
Arthrogryposis Multiplex Congenita 5
Hypertonia, Akinesia, Hand tremor OMIM:618947
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Steatorrhea, Thrombocytosis, Rod-cone dystrophy, Hypocholesterolemia OMIM:212065
Fumarase Deficiency
Failure to thrive, Mitochondrial swelling OMIM:606812
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen... ORPHA:37042
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Hypoalbuminemia, Anemia ORPHA:67
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Confusion, Hyperammonemia OMIM:620137
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Nonketotic hypoglycemia, Tapered toe, Elevated circulating creatine kinase concentratio... OMIM:608836
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... OMIM:617156
Intermediate Nemaline Myopathy
Hypokinesia, Difficulty walking ORPHA:171433
Barth Syndrome
Gait disturbance, Abnormal mitochondrial morphology OMIM:302060
Senior-Loken Syndrome 1
Retinal dystrophy, Elevated circulating creatinine concentration, Anemia OMIM:266900
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Glycogen Storage Disease Ixb
Splenomegaly, Hypoglycemia, Hyperuricemia OMIM:261750
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... OMIM:256600
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Postprandial hyperglycemia ORPHA:2089
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Developmental And Epileptic Encephalopathy 28
Rigidity, Spasticity, Hypokinesia, Cerebral atrophy OMIM:616211
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Galactokinase Deficiency
Psychomotor deterioration, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of... ORPHA:79237
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Babinsk... OMIM:614298
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Avascular necrosis of the capital femoral epiphysis, Splenomegaly... OMIM:222470
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Micrognathia, Hypocholesterolemia OMIM:618810
Juvenile Polyposis Of Infancy
Refractory anemia, Clubbing of fingers, Midclavicular hypoplasia, Hypoalbuminemia, Broad thumb, A... ORPHA:79076
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... OMIM:210250
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... ORPHA:90363
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoplastic iliac wing, Small hand, Short foot, Cutaneous finger syndactyly, Hypoalbuminemia, Tal... OMIM:235510
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia, Anemia ORPHA:85443
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Hypoglycemia, Elevated circulating creatine kinase concentration, H... ORPHA:99826
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia ORPHA:31150
Xfe Progeroid Syndrome
Pes cavus, Optic atrophy, Hypoalbuminemia, Attenuation of retinal blood vessels OMIM:610965
Alg11-Cdg
Ataxia, Cerebral atrophy, Opisthotonus, Hypertonia, Hypokinesia, Limb hypertonia ORPHA:280071
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pel... ORPHA:1988
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Hypoglycemia, Elevated circulating creatine kinase concentration, Hype... OMIM:618120
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Mercaptolactate-Cysteine Disulfiduria
Hypokinesia OMIM:249650
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Optic atrophy, Hepatosplenomegaly, Anemia, Leukopenia, Hypoa... ORPHA:505248
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... OMIM:620076
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Decreased mitochondrial number, Hypergonadotropic hypogonadism ORPHA:352447
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Galloway-Mowat Syndrome 1
Micrognathia, Optic atrophy, Hypoalbuminemia, Talipes equinovarus, Camptodactyly, Hand clenching,... OMIM:251300
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Galloway-Mowat Syndrome 3
Arachnodactyly, Micrognathia, Hip dislocation, Hypoalbuminemia, Camptodactyly OMIM:617729
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia, Palmoplantar keratoderma OMIM:615508
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Primary adrenal insufficiency, Slurred speech, L... OMIM:300100
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... OMIM:231100
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Elevat... OMIM:120330
Dubowitz Syndrome
Short attention span, Syndactyly, Pes planus, Aplastic anemia, Micrognathia, Acute lymphoblastic ... OMIM:223370
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra... OMIM:307800
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia, Pedal edema ORPHA:567546
Acromelic Frontonasal Dysostosis
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly... OMIM:603671
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Smith-Lemli-Opitz Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc... OMIM:270400
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Central retinal vessel vascular tortu... ORPHA:2751
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Clubbing, Hypochromic microcytic anemia, P... ORPHA:97214
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... ORPHA:160
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Hypoalbuminemia, Anemia ORPHA:79396
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Hypertonia, Ataxia ORPHA:31
Choreoacanthocytosis
Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... ORPHA:2388
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia ORPHA:542323
Poliomyelitis
Paralysis, Diminished movement, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthes... ORPHA:2912
Aapoaiv Amyloidosis
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration ORPHA:439232
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Abnormality of mitochondrial metabolis... ORPHA:314404
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Congenital hip dislocation, Micrognathia, Metatarsus adductus, Hypocholesterol... OMIM:244450
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small p... ORPHA:96334
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbance, Neurodegeneration,... ORPHA:79244
Hyperekplexia 1
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls, Hypokinesia OMIM:149400
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... OMIM:605373
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shorte... OMIM:263520
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, T... OMIM:251000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoglycemia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia OMIM:613658
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Glycogen Storage Disease Ixc
Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Leptospirosis
Papilledema, Retinal hemorrhage, Chorioretinitis, Hyperproteinemia, Optic neuritis, Macular cotto... ORPHA:509
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Depression, Hypoalbuminemia, Ty... ORPHA:171
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... OMIM:258315
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
46,Xy Sex Reversal 4
Micrognathia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Juvenile Polyposis Syndrome
Clubbing of fingers, Hypoproteinemia, Anemia ORPHA:2929
Congenital Disorder Of Glycosylation, Type Iu
Hypokinesia OMIM:615042
Typical Nemaline Myopathy
Waddling gait, Gait disturbance, Hypokinesia ORPHA:171436
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Emotional lability, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Irritability, N... OMIM:212138
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor... ORPHA:411634
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Diabetes mellitus, Hypothyroidism ORPHA:263297
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:49041
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... OMIM:206920
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... ORPHA:91500
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Infantile Liver Failure Syndrome 2
Hypoglycemia, Hyperammonemia OMIM:616483
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Macular coloboma, Megaloblastic anemia, ... ORPHA:79282
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote... OMIM:617049
German Syndrome
Cryptorchidism, Hypokinesia ORPHA:2077
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... OMIM:208500
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Hypoglycemia, Glycosuria, Aminoaciduria, Hypophosphatemia OMIM:616026
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Friedreich Ataxia 2
Impaired vibratory sensation, Incoordination, Ataxia, Babinski sign, Decreased pyruvate carboxyla... OMIM:601992
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Oligomeganephronia
Optic disc coloboma, Elevated circulating creatinine concentration, Micrognathia ORPHA:2260
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Elevated cir... OMIM:137920
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c OMIM:616113
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hypokinesia OMIM:310400
Cardiogenic Shock
Elevated circulating creatinine concentration, Confusion ORPHA:97292
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Hemorrhagic Fever-Renal Syndrome
Confusion, Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyp... ORPHA:340
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Postaxial polydactyly, Conjugated hyperbilirubinemia, Splenomegaly, Increased circula... OMIM:619534
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Tibial Hemimelia
Absent tibia OMIM:275220
Isolated Posterior Meningocele
Paraplegia, Hypertonia, Upper limb spasticity, Difficulty walking, Hypokinesia ORPHA:268810
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Structural Heart Defects And Renal Anomalies Syndrome
Overlapping toe, Elevated circulating creatinine concentration OMIM:617478
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypokinesia OMIM:613320
Occipital Horn Syndrome
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... ORPHA:198
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Glycogen Storage Disease Ib
Hypoglycemia, Splenomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Neutropenia, Lipemia reti... OMIM:232220
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Omodysplasia 2
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... OMIM:164745
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Pontocerebellar atrophy, Hypokinesia ORPHA:258
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Severe Congenital Nemaline Myopathy
Hypokinesia ORPHA:171430
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... OMIM:200980
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration ORPHA:93126
Tropical Endomyocardial Fibrosis
Splenomegaly, Hypoalbuminemia, Eosinophilia, Pedal edema ORPHA:75565
Hydrolethalus Syndrome 1
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... OMIM:236680
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... ORPHA:140
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of... OMIM:218330
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Elevated circulating creatin... ORPHA:449395
Pmm2-Cdg
Pes planus, Long fingers, Reduced thyroxin-binding globulin, Insulin resistance, Hyperinsulinemia... ORPHA:79318
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Abnormality of Krebs cycle metabolism, Chorea, Gait ataxia, Hypertonia, Spasticity ORPHA:255210
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... OMIM:214800
Danon Disease
Hypokinesia OMIM:300257
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... OMIM:304120
Orofaciodigital Syndrome Type 4
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... ORPHA:2753
Rat-Bite Fever
Diminished movement ORPHA:31205
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892

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 Pgam5

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 Pgam5.

There are 9 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mitochondrial phosphatase PGAM5 modulates cellular senescence by regulating mitochondrial dynamics. Nature communications (May 2020) Pgam5tm1a(EUCOMM)Wtsi Pgam5tm1b(EUCOMM)Wtsi PMC7242393
PGAM5 is a key driver of mitochondrial dysfunction in experimental lung fibrosis. Cellular and molecular life sciences : CMLS (June 2019) Pgam5tm1a(EUCOMM)Wtsi 31168659
PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome. Proceedings of the National Academy of Sciences of the United States of America (December 2018) Pgam5tm1a(EUCOMM)Wtsi Pgam5tm1d(EUCOMM)Wtsi Pgam5tm1b(EUCOMM)Wtsi 30578322
Oxeiptosis, a ROS-induced caspase-independent apoptosis-like cell-death pathway. Nature immunology (December 2017) Pgam5tm1a(EUCOMM)Wtsi PMC5786482
PGAM5-mediated programmed necrosis of hepatocytes drives acute liver injury. Gut (August 2016) Pgam5tm1a(EUCOMM)Wtsi 27566130
Identification of PGAM5 as a Mammalian Protein Histidine Phosphatase that Plays a Central Role to Negatively Regulate CD4(+) T Cells. Molecular cell (July 2016) Pgam5tm1a(EUCOMM)Wtsi PMC5677525
Mitochondrial Protein PGAM5 Regulates Mitophagic Protection against Cell Necroptosis. PloS one (January 2016) Pgam5tm1a(EUCOMM)Wtsi PMC4725845
The Mitochondrial Phosphatase PGAM5 Is Dispensable for Necroptosis but Promotes Inflammasome Activation in Macrophages. Journal of immunology (Baltimore, Md. : 1950) (November 2015) Pgam5tm1c(EUCOMM)Wtsi Pgam5tm1a(EUCOMM)Wtsi Pgam5tm1d(EUCOMM)Wtsi PMC4684958
Genetic deficiency of the mitochondrial protein PGAM5 causes a Parkinson's-like movement disorder. Nature communications (September 2014) Pgam5tm1a(EUCOMM)Wtsi PMC4457367

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pgam5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pgam5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pgam5tm44639(L1L2_st2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pgam5tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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