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Gene: Spg11 MGI:2444989

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Gene Summary

Name:
SPG11, spatacsin vesicle trafficking associated
Synonyms:
spastic paraplegia 11,  6030465E24Rik,  C530005A01Rik

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 exploration in new environment Spg11em1(IMPC)J HOM   Early adult 4.30×10-05
prolonged RR interval Spg11em1(IMPC)J HOM Early adult 9.77×10-06
decreased heart rate Spg11em1(IMPC)J HOM Early adult 5.16×10-05
increased total body fat amount Spg11em1(IMPC)J HOM Early adult 6.99×10-05
increased leukocyte cell number Spg11em1(IMPC)J HOM Early adult 3.38×10-06
decreased circulating total protein level Spg11em1(IMPC)J HOM Early adult 1.04×10-05
decreased circulating calcium level Spg11em1(IMPC)J HOM Early adult 3.36×10-05
increased startle reflex Spg11em1(IMPC)J HOM Early adult 1.02×10-07

Download data as:  TSV  XLS

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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 Forepaw

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Electroretinography 3

Fundus file

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Spg11 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Spg11 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... OMIM:602099
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati... OMIM:604360
Juvenile Amyotrophic Lateral Sclerosis
Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Cachexia, Parkinsonism, Hea... ORPHA:300605
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Peripheral axonal neuropathy, Postural tremor, Babinski sign, Distal sensory impairment, Gait dis... OMIM:616668
Autosomal Recessive Spastic Paraplegia Type 11
Peripheral axonal neuropathy, Ataxia, Parkinsonism, Overweight, Atrophy of the spinal cord, Inabi... ORPHA:2822

The table below shows human diseases predicted to be associated to Spg11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl... OMIM:604484
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Lower limb spasticity, Amyotrophic lateral sclerosis OMIM:614373
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... ORPHA:412066
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis OMIM:300857
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... OMIM:608030
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Frequent falls, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Spasticity,... ORPHA:225154
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Spastic Paraplegia 2, X-Linked
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Abnormal cerebellum morp... OMIM:312920
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ... OMIM:614436
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of peripheral myelinated ner... OMIM:302800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ... OMIM:105400
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... OMIM:105500
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Upper motor neuron dysfunction OMIM:612577
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tetraparesis, Spasticity OMIM:617892
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hypoplasia of the pons, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Hy... OMIM:607596
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Peripheral axonal degeneration, Ataxia, Tremor, Decreased number of large per... OMIM:208920
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Adult Krabbe Disease
Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Ataxia, Broad-based gait, Abn... ORPHA:206448
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... ORPHA:95434
Gerstmann-Straussler-Scheinker Syndrome
Dysesthesia, Abnormal cerebellum morphology, Abnormal pyramidal tract morphology, Gait ataxia, Ab... ORPHA:356
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Pontocerebellar Hypoplasia Type 1
Peripheral axonal neuropathy, Ataxia, Hypoplasia of the pons, Optic atrophy, Degeneration of ante... ORPHA:2254
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations OMIM:613435
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu... ORPHA:204
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal astrocyte morphology, Tremor, Abnormal pyramidal tract morphology, Babinski sign, Spasti... ORPHA:83629
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... OMIM:602099
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Axonal degeneration, Gait disturbance, Distal sensory impairment OMIM:616155
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:100989
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Spinal Muscular Atrophy, Type Iii
Hand tremor, Degeneration of anterior horn cells, Limb fasciculations, Tongue fasciculations, Los... OMIM:253400
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity OMIM:611895
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati... OMIM:604360
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Spastic Paraplegia 7, Autosomal Recessive
Cerebellar atrophy, Waddling gait, Lower limb spasticity, Spastic ataxia, Degeneration of the lat... OMIM:607259
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616437
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... OMIM:613954
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Impaired temperature sensation, Impaired pain sensation, Impaired p... DECIPHER:29
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... ORPHA:282166
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Fasciculations ORPHA:65684
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor OMIM:253550
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:100999
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Fasciculations, Spasticity OMIM:614808
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Huntington Disease-Like 2
Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Gait disturbance, Cere... ORPHA:98934
Autosomal Dominant Spastic Paraplegia Type 37
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:171612
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Neuronal loss in central nerv... OMIM:600795
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Loss of ... OMIM:608627
Autoimmune Hypoparathyroidism
Prolonged QT interval, Confusion, Depression, Abnormal left ventricular function, Irritability, H... ORPHA:36913
Amyotrophic Lateral Sclerosis 2, Juvenile
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe... OMIM:205100
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:171863
Autosomal Dominant Spastic Paraplegia Type 73
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Progressive spastic para... ORPHA:444099
Spastic Paraplegia 8, Autosomal Dominant
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Impaired ... OMIM:603563
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Cerebral cortical atrophy OMIM:615911
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Diff... OMIM:159950
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Juvenile Amyotrophic Lateral Sclerosis
Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Cachexia, Parkinsonism, Hea... ORPHA:300605
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Spastic Paraplegia 3, Autosomal Dominant
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Impaired ... OMIM:182600
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Mitochondrial Dna Depletion Syndrome 18
Clonus, Axonal degeneration, Falls, Tongue fasciculations, Failure to thrive OMIM:618811
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Axona... ORPHA:90103
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism OMIM:600274
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Substantia ... ORPHA:276244
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Babinski sign, Spasticity OMIM:612069
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Ataxia OMIM:551500
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Ataxia, Chorea, Babinski sign, Axonal degeneration, Cerebral atro... OMIM:604168
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Generaliz... OMIM:612526
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngea... ORPHA:94090
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron mo... ORPHA:52430
Camos Syndrome
Ataxia, Optic atrophy, Spasticity, Brain atrophy, Aplasia/Hypoplasia of the cerebellum, Progressi... ORPHA:83472
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... OMIM:615957
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Spastic Paraplegia 4, Autosomal Dominant
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Impaired ... OMIM:182601
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased... ORPHA:26793
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradyki... ORPHA:248111
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Peripheral axonal neuro... OMIM:615490
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... OMIM:620152
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:615883
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Fasciculations, Abnormality of e... ORPHA:275864
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Hyperpepsinogenemia I, Cardiom... OMIM:615745
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi... OMIM:241600
Spinal Muscular Atrophy, Type Iv
Degeneration of anterior horn cells, Tongue fasciculations, Waddling gait, Hand tremor OMIM:271150
Autosomal Dominant Spastic Paraplegia Type 38
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Impaired ... ORPHA:171617
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration OMIM:610951
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Small for gestational age, Axonal degeneration, Diaphragmatic par... OMIM:604320
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Impaired vibrat... ORPHA:88628
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder OMIM:617182
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... OMIM:611637
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:100993
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Narp Syndrome
Optic disc pallor, Ataxia, Babinski sign, Progressive gait ataxia, Corticospinal tract atrophy, M... ORPHA:644
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, Hypoprotein... ORPHA:99828
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia, Cognitive impairment ORPHA:172
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Juvenile Primary Lateral Sclerosis
Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait imbalance, Abnormal upper... ORPHA:247604
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration OMIM:618138
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity ORPHA:803
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Spinal cord lesion, Spas... ORPHA:320355
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, T... ORPHA:247585
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Diaminopentanuria
Spasticity, Neurodegeneration, Ataxia OMIM:222350
Familial Congenital Mirror Movements
Cerebral palsy, Clumsiness, Poor fine motor coordination, Abnormal corticospinal tract morphology... ORPHA:238722
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic gait, Spastic dysarthria, P... OMIM:606353
Mitochondrial Complex I Deficiency, Nuclear Type 13
Generalized dystonia, Cardiac arrest, Irritability, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Trimethylaminuria
Tachycardia, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia OMIM:602079
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Wei... ORPHA:157941
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... ORPHA:100070
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Congenital Analbuminemia
Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hyp... ORPHA:86816
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... OMIM:614877
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Mildly elevated creatine kinase OMIM:620265
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Cryptorchidism, Facial palsy, Tongue fasciculations OMIM:301830
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Dystonia, Pulmonary arterial hypertension, Incre... OMIM:616299
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... OMIM:143100
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Frequent falls, Axonal degeneration, Diaphragmatic paralysis OMIM:620011
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atri... OMIM:212138
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Rigidity, C... OMIM:607136
Primary Intestinal Lymphangiectasia
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... ORPHA:90362
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia... OMIM:601005
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Hypocalcemia, Del... ORPHA:94093
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral cryptorchidism, Axonal degeneration, Scissor gait, Babinski sign, Cerebral atro... OMIM:278800
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Familial Isolated Hypoparathyroidism
Arrhythmia, Abnormal dental enamel morphology, Hypocalcemia ORPHA:2238
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Unsteady gait, Distal sensory impairment, Difficulty walking, Voca... ORPHA:600
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, Neurodegene... OMIM:615889
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Colchicine Poisoning
Hyponatremia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Abnormal blood io... ORPHA:31824
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, Thrombocytosis... OMIM:226300
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p... OMIM:612319
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykinesia, Glios... OMIM:221820
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Gai... OMIM:618369
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Lateral ventricle dilatation, Axonal loss, Glio... OMIM:221770
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Congestive heart failure, Decreased plasma free carnitine, Bradycardia OMIM:619048
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Dystonia OMIM:616277
Huntington Disease
Caudate atrophy, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sig... ORPHA:399
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia OMIM:260450
Ménétrier Disease
Gastrointestinal hemorrhage, Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal sensory impairment,... OMIM:606070
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... OMIM:215470
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Myoclonic spasms, Di... ORPHA:478029
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Cln3 Disease
Vacuolated lymphocytes, Depression, T-wave inversion, Dementia, Bradycardia, Mental deterioration... ORPHA:228346
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia, Dystonia OMIM:614654
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Epistaxis, Tremo... ORPHA:167
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas... OMIM:615157
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... OMIM:615491
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degen... OMIM:601104
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia OMIM:618815
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Congestive heart failure, Leukocytosis, Dilat... OMIM:615895
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hyp... ORPHA:94089
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Cerebral cortical atrophy, Action tremor OMIM:606438
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Spasticity, Global brai... OMIM:616811
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Flexion contracture, Hypoproteinemia OMIM:608093
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Slender build, Difficulty walking, Astrocytosis OMIM:611087
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Unste... ORPHA:79263
Autosomal Dominant Hypocalcemia
Writer's cramp, Congestive heart failure, Depression, Hyperphosphatemia, Hypocalcemia, Hypotensio... ORPHA:428
Adrenomyeloneuropathy
Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Dysesthe... ORPHA:139399
Combined Oxidative Phosphorylation Deficiency 10
Hyperammonemia, Bradycardia, Dystonia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:614702
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia, Opisthotonus OMIM:619814
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... OMIM:619747
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur... ORPHA:363717
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... ORPHA:90064
Polyglucosan Body Neuropathy, Adult Form
Peripheral axonal neuropathy, Spastic paraplegia, Distal sensory impairment, Gait disturbance, Te... OMIM:263570
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Fasciitis, Elevated circulating creatine kinase concentration, Confusion, Abs... ORPHA:36234
Congenital Arthrogryposis With Anterior Horn Cell Disease
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Paucity of anterior horn mo... OMIM:611890
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Tremor, Opisthotonus, Hypertensi... ORPHA:3299
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Cryptorchidism, Abnormal anterior horn cell morphology, Tong... ORPHA:1145
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Umbilical hernia, Bradycardia ORPHA:95717
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait disturbance, S... OMIM:615643
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le... ORPHA:247353
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia, Joint contracture of the 5th finger, Dystonia, Intention tremor OMIM:614407
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... OMIM:256600
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... ORPHA:98759
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait OMIM:611067
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:615184
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Abnormal cerebellar peduncle morphology, A... ORPHA:909
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradyk... OMIM:137440
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Rhabdoid Tumor
Hypercalcemia, Thrombocytopenia, Hypertension, Irritability, Internal hemorrhage, Anemia ORPHA:69077
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Inguinal hernia, Hypoproteinemia, Hypocalcemia OMIM:235255
Cholera
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Irritability, Hypovolemic shock, Hyp... ORPHA:173
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Cerebellar hypoplasia, Decreased body weight, Corticospinal tract hypoplasia, Agenesis of... ORPHA:255138
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Failure to thrive, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Ce... OMIM:203700
Christianson Syndrome
Cerebellar atrophy, Cachexia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the cerebellum, ... ORPHA:85278
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia ORPHA:99845
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Parkinsonism, Cerebral atrophy, Abnormal pons morphology, Syringom... ORPHA:1320
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemia, Cognitive impairment, Hypocalcemic tetany, Enamel hypoplasia OMIM:612462
Glutamine Deficiency, Congenital
Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Camptodactyly OMIM:610015
Non-Functioning Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Palpitations, Positive regi... ORPHA:94080
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Necrotizing Enterocolitis
Shock, Hyponatremia, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thrombocytopenia ORPHA:391673
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia ORPHA:1655
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Depression, Cardiomyopathy, Dementia, Bradycardia, Arrhythmia OMIM:609286
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Thrombocytopenia, Hypocalcemia, Neutropenia, Cellulitis, A... ORPHA:47
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Umbilical hernia, Bradycardia ORPHA:95716
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171420
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia ORPHA:89937
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Confusion, Congestive heart failu... ORPHA:31826
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Calcinosis, Confusion, Depression, Irritability, Hyperphosphatemia, Hypoca... ORPHA:79444
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Adamantinoma
Hypercalcemia ORPHA:55881
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Hof... OMIM:601162
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemi... ORPHA:466650
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Cerebral cortical atrophy, ... ORPHA:97229
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract OMIM:619602
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Pulmonary Blastoma
Weight loss ORPHA:64741
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Normochromic an... OMIM:618775
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Babinsk... OMIM:614298
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Johanson-Blizzard Syndrome
Hypoproteinemia, Anemia ORPHA:2315
Oculoskeletodental Syndrome
Hypercalcemia, Enamel hypoplasia, Hypocalcemia ORPHA:557003
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Lujo Hemorrhagic Fever
Shock, Resting tremor, Confusion, Elevated circulating C-reactive protein concentration, Myocardi... ORPHA:319213
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... OMIM:616812
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati... OMIM:613327
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures OMIM:264700
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Calcinosis, Confusion, Depression, Choreoathetosis, Hypertension, Irritabi... ORPHA:79443
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Hypocalc... ORPHA:746
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Double Outlet Right Ventricle
Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis ORPHA:3426
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increase... ORPHA:90041
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:158048
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Joint contracture, Bradycardia OMIM:614498
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Truncal ataxia, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dysdiadochoki... ORPHA:309854
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Oculoskeletodental Syndrome
Hypercalcemia, Splenomegaly, Elbow flexion contracture, Lacunar stroke, Hypocalcemia OMIM:618440
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Liver Disease, Severe Congenital
Hyponatremia, Short attention span, Inguinal hernia, Elevated circulating alpha-fetoprotein conce... OMIM:619991
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... OMIM:300894
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Inguinal hernia, Bradycardia, Opisthotonus OMIM:619272
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal adipose tissue morphology, Hypocalcemia, Hypophosphatemia ORPHA:93160
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Inability to walk, Astrocytosis, Pontocerebellar atrophy, Decreased body weight ORPHA:258
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... ORPHA:300751
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Optic atrophy, Choreoathetosis, Gait disturbance,... ORPHA:702
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Sepsis In Premature Infants
Tachycardia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosi... ORPHA:90051
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells OMIM:271225
Stiff-Person Syndrome
Tachycardia, Exaggerated startle response, Opisthotonus, Depression, Hypertension, Anemia OMIM:184850
Hypophosphatasia
Irritability, Hypercalcemia, Anemia ORPHA:436
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Slender build, Cachexia, Weight loss OMIM:613662
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Failure to thrive, Cachexia, Weight loss OMIM:612075
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Hypomagnesemia, Hypermagnesemia, Low-to-normal blood p... ORPHA:358
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hypocalcemia, Hypomagnese... ORPHA:73224
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Tuberculosis
Weight loss ORPHA:3389
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures ORPHA:289157
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Depression, Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Enamel hypop... OMIM:212750
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Isaacs Syndrome
Fasciculations, Distal sensory impairment, Weight loss ORPHA:84142
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... OMIM:606159
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Fatal Familial Insomnia
Neuronal loss in central nervous system, Ataxia, Myoclonus, Weight loss OMIM:600072
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Bradycardia, Opisthotonus OMIM:220120
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Umbilical hernia, Bradycardia ORPHA:226313
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Peripheral axonal neuropathy, Ataxia, Impaired distal proprioception, Hypoesthe... OMIM:607459
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo... ORPHA:37042
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Umbilical hernia, Bradycardia, Attention deficit hyperactivity disorder, Hypercholest... ORPHA:90674
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Congenital Myopathy 22A, Classic
Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Bradycardia, Congenital fi... OMIM:620351
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... ORPHA:90065
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Inability to walk, Cerebral atrophy, Hypertonia, Spastici... OMIM:616801
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc... ORPHA:99826
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Hypocalcemia, Cognitive impairment OMIM:618476
Juvenile Temporal Arteritis
Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia ORPHA:26137
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest... ORPHA:75564
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia, Depression ORPHA:221098
Flynn-Aird Syndrome
Ataxia, Cerebral cortical atrophy, Cachexia, Impaired pain sensation ORPHA:2047
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Palpitations, Positive regi... ORPHA:276621
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Dense calcifications in the cerebellar dentate n... ORPHA:90324
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Gliosis, Shuffling g... ORPHA:411602
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Cerebral atrophy, Dysmetria, Gait ataxi... OMIM:610217
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia ORPHA:40366
Pheochromocytoma
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171300
Encephalitis Lethargica
Mental deterioration, Tremor, Bradycardia ORPHA:83600
Idiopathic Achalasia
Weight loss ORPHA:930
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Umbilical hernia, Increased circulating thyroglobulin level, Bradyca... ORPHA:90673
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... ORPHA:91547
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Pseudo-Torch Syndrome 2
Thrombocytopenia, Bradycardia, Cerebral hemorrhage OMIM:617397
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare... ORPHA:3208
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Hypermagnesemia, Depression, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis OMIM:600740
Oculopharyngodistal Myopathy
Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis ORPHA:98897
Isotretinoin-Like Syndrome
Inguinal hernia, Aortic valve stenosis, Lymphopenia, Hypocalcemia ORPHA:2306
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Combined Oxidative Phosphorylation Defect Type 39
Leg dystonia, Bradycardia, Congenital foot contractures ORPHA:565624
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypertension, Hypokalemia, Hypocalcemia OMIM:617913
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Hypokalem... ORPHA:411634
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbance, ... ORPHA:216866
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Tachycardia, Hypokalemia OMIM:613239
Smith-Magenis Syndrome
Failure to thrive in infancy, Impaired pain sensation, Obesity, Gait disturbance, Corticospinal t... ORPHA:819
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Spasticity, Spastic paraplegia, Agenesis of corpus callosum OMIM:307000
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level OMIM:610768
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Increased total... ORPHA:90037
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment OMIM:609242
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Hypercalcemia, Progressive psychomotor deterioration, Hyperten... ORPHA:251004
Hypocalciuric Hypercalcemia, Familial, Type Ii
Multiple lipomas, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis OMIM:145981
Pearson Syndrome
Reticulocytosis, Pancytopenia, Cardiac conduction abnormality, Thrombocytopenia, Splenomegaly, Ne... ORPHA:699
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hypokalemia, Palpitations OMIM:188580
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100083
Mercury Poisoning
Tachycardia, Confusion, Tremor, Hypertension, Hypokalemia, Hypotension, Dystonia ORPHA:330021
Rett Syndrome
Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity, Cerebral cortical atrophy OMIM:312750
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Weight loss ORPHA:1164
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Hypoplasia of the pyramidal tract, Optic atrophy, Cerebellar hypopl... OMIM:253800
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Intracranial hemorrhage, Irritability, Anemia OMIM:241500
Acquired Methemoglobinemia
Tachycardia, Confusion, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Cartilage-Hair Hypoplasia
Heart block, Cardiomyopathy, Hypocalcemia, Cognitive impairment, Neutropenia, Anemia ORPHA:175
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... OMIM:300100
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Brain abscess, Transient ischemic ... ORPHA:2929
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Myocarditis, Leukocytosis, Thrombocytopenia, Hyper... ORPHA:544482
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Enamel hypoplasia, Hyperphosphatemia, Cognitive impairment OMIM:103580
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Familial Isolated Hyperparathyroidism
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia ORPHA:99879
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Peripheral axonal neuropathy, Postural tremor, Babinski sign, Distal sensory impairment, Gait dis... OMIM:616668
Yellow Fever
Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... ORPHA:99829
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Irrit... OMIM:608643
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Velocardiofacial Syndrome
Emotional lability, Inguinal hernia, Umbilical hernia, Hypocalcemia OMIM:192430
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Sinus bradycardia, Congenital contracture, Dystonia, Arthrogryposis multiple... OMIM:618397
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Palpitations, Positive regi... ORPHA:29072
Pierson Syndrome
Hypertension, Hypoproteinemia, Retinal hemorrhage OMIM:609049
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Elevated circulating C-reactive protein concentration, Leukocytosis,... OMIM:617099
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia OMIM:614653
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Heart murmur, Intracranial hemorrhage, Hypocalcemia, Hyperbilirubinemia, Anemia ORPHA:163979
Hyperekplexia 3
Exaggerated startle response, Syncope, Hiatus hernia OMIM:614618
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Leukopenia, E... ORPHA:2785
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Neuroblastoma, Susceptibility To, 1
Ataxia, Spinal cord compression, Weight loss, Myoclonus, Failure to thrive, Ganglioneuroma OMIM:256700
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Sheehan Syndrome
Hyponatremia, Orthostatic hypotension, Normochromic anemia, Palpitations, Bradycardia ORPHA:91355
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Proximal Spinal Muscular Atrophy
Multiple joint contractures, Flexion contracture, Elbow flexion contracture, Knee flexion contrac... ORPHA:70
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Cachexia, Babinski sign, Facial diplegia, Spasticity OMIM:618186
Congenital Enterovirus Infection
Abnormal macrophage morphology, Myocarditis, Leukocytosis, Thrombocytopenia, Hyperammonemia, Card... ORPHA:292
Autosomal Recessive Malignant Osteopetrosis
Tremor, Splenomegaly, Hypocalcemia, Hypophosphatemia, Pulmonary arterial hypertension, Anemia ORPHA:667
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytosis, H... ORPHA:71275
Diencephalic Syndrome
Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Hypercalcemia, Eosin... ORPHA:199299
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Short stepped shuffling gait OMIM:168605
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level ORPHA:264675
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Hyponatremia, Confusion, Leukocytosis, Depression, Thrombocytopenia ORPHA:83601
Autosomal Recessive Spastic Paraplegia Type 11
Peripheral axonal neuropathy, Ataxia, Parkinsonism, Overweight, Atrophy of the spinal cord, Inabi... ORPHA:2822
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Chronic Hiccup
Weight loss ORPHA:396
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Unsteady gait, Neurodegeneration, Ataxia OMIM:615919
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Rajab Interstitial Lung Disease With Brain Calcifications 1
Inguinal hernia, Pancytopenia, Portal hypertension, Hypoalbuminemia, Hypocalcemia, Unconjugated h... OMIM:613658
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia, Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia OMIM:218700
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Confusion, Heart block, Elevated circulating creatinine concentration, Capillary lea... ORPHA:542323
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia ORPHA:309246
Mitochondrial Neurogastrointestinal Encephalomyopathy
Peripheral axonal neuropathy, Cachexia, Decreased number of large peripheral myelinated nerve fib... ORPHA:298
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Olivopont... OMIM:146500
Infantile Myofibromatosis
Hypercalcemia, Chondrocalcinosis ORPHA:2591
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Inguinal hernia, Abnormal dental enamel morphology, Thrombocytopenia... ORPHA:567
Infantile Krabbe Disease
Lower limb spasticity, Diffuse cerebral atrophy, Cachexia, Optic atrophy, Spastic diplegia, Opist... ORPHA:206436
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Hypercalcemia, Myocardial infarction, H... ORPHA:95409
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Aicardi-Goutieres Syndrome 9
Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Weight loss, Spastic ... OMIM:619487
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia OMIM:239200
Erythrokeratodermia Variabilis
Abnormal testis morphology, Weight loss ORPHA:317
Hennekam Syndrome
Splenomegaly, Camptodactyly of finger, Lymphopenia, Hypocalcemia ORPHA:2136
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Gm1 Gangliosidosis
Ataxia, Tremor, Unsteady gait, Optic atrophy, Weight loss, Gait disturbance, Decerebrate rigidity... ORPHA:354
3-Methylglutaconic Aciduria, Type Viii
Tremor, Neutropenia, Bradycardia, Dystonia OMIM:617248
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, Hypocalcemic s... ORPHA:405
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Mulibrey Nanism
Cachexia ORPHA:2576
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
X-Linked Creatine Transporter Deficiency
Ataxia, Cachexia, Chorea, Athetosis, Hypertonia ORPHA:52503
Metaphyseal Chondrodysplasia, Jansen Type
Knee flexion contracture, Hip contracture, Hypercalcemia, Hypophosphatemia OMIM:156400
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia ORPHA:1933
Monosomy 13Q34
Hematochezia, Hypercalcemia, Epistaxis, Pulmonic stenosis ORPHA:96168
Oculopharyngodistal Myopathy 1
Ataxia, Facial palsy, Tremor, Weight loss, Difficulty walking, Brain atrophy OMIM:164310
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Joint contracture OMIM:616881
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ... ORPHA:845
Holocarboxylase Synthetase Deficiency
Ataxia, Weight loss ORPHA:79242
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Hypercalcemia, Attention deficit hyperactivity disorder ORPHA:476126
Moynahan Syndrome
Cachexia ORPHA:2574
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Loss of ambulation, Impaired vibratory sensation, Self-mutil... ORPHA:2388
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... ORPHA:83471
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Hemolytic anemia, Portal h... OMIM:619503
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Cranioectodermal Dysplasia 1
Inguinal hernia, Hypocalcemia, Enamel hypoplasia OMIM:218330
Eosinophilic Granulomatosis With Polyangiitis
Central nervous system degeneration, Hemiplegia/hemiparesis, Gait disturbance, Weight loss ORPHA:183
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Exaggerated startle response, Joint contracture, Short attention span OMIM:617864
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Umbilical hernia, Abnormal circulating thyroglobulin level, Bradycardia ORPHA:226307
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Wilson Disease
Increased body weight, Clumsiness, Weight loss, Difficulty walking, Failure to thrive ORPHA:905
Polyarteritis Nodosa
Polyneuritis, Sensory axonal neuropathy, Weight loss ORPHA:767
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture OMIM:618201
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Shortened QT interval, Hypophosphatemia, Lipoma, Chondrocalcinosis ORPHA:99880
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ... ORPHA:90038
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Umbilical hernia, Hypocalcemia, Attention deficit hyperactivity disorder, Dystonia, Emotional lab... OMIM:620330
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Cachexia ORPHA:42
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Low-to-normal blood pressure, ... OMIM:601678
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Weakness due to upper motor neuron dysfunctio... ORPHA:79139
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Parathyroid Carcinoma
Hypercalcemia, Shortened QT interval, Hypophosphatemia, Lipoma, Chondrocalcinosis ORPHA:143
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Somatic sensory dysfunction, Spinal cord tumor, Weight loss, Abnormal superior cereb... ORPHA:370348
Sandhoff Disease, Infantile Form
Mitral regurgitation, Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Williams Syndrome
Failure to thrive in infancy, Involuntary movements, Ataxia, Atrophy/Degeneration involving the c... ORPHA:904
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia OMIM:614619
Addison Disease
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Hypercalcemia, Thiamine-responsive mega... ORPHA:85138
Eosinophilic Fasciitis
Paresthesia, Weight loss ORPHA:3165
Lynch Syndrome
Glioblastoma multiforme, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia... ORPHA:144
Pleural Mesothelioma
Weight loss ORPHA:50251
Follicular Lymphoma
Weight loss ORPHA:545
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Bohring-Opitz Syndrome
Congenital contracture, Bilateral wrist flexion contracture, Bradycardia ORPHA:97297
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Thrombocytopenia, Splenomegaly, Hypoplasia of the thymus, Hypoca... OMIM:188400
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Abnormal blood ion concentration, Bradycardia, Enamel hypoplasia, Anemia ORPHA:79404
Vitamin D-Dependent Rickets, Type 2A
Irritability, Enamel hypoplasia, Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Hyperekplexia 1
Umbilical hernia, Exaggerated startle response, Inguinal hernia OMIM:149400
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... ORPHA:466677
Familial Colorectal Cancer Type X
Glioblastoma multiforme, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia... ORPHA:440437
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia ORPHA:1389
Sandhoff Disease
Orthostatic hypotension, Progressive psychomotor deterioration, Exaggerated startle response, Hep... OMIM:268800
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Glucagonoma
Gastrointestinal hemorrhage, Hypercalcemia, Acanthocytosis, Depression, Normochromic anemia, Subc... ORPHA:97280
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Cockayne Syndrome
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Peripheral axonal neuropathy,... ORPHA:191
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Pulmonary insufficiency, Bradycardia, Congenital diaphragmatic hernia OMIM:614437
Thymic Carcinoma
Diaphragmatic paralysis, Weight loss ORPHA:99868
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures ORPHA:93325
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Hyperesthesia, Spastic tetraplegia, Cachexia ORPHA:371364
Renpenning Syndrome
Decreased testicular size, Cachexia ORPHA:3242
Mast Cell Sarcoma
Weight loss ORPHA:66661
Pfapa Syndrome
Weight loss ORPHA:42642
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Riddle Syndrome
Ataxia, Clumsiness, Weight loss, Gait disturbance, Chromosomal breakage induced by ionizing radia... ORPHA:420741
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures ORPHA:320406
Acrodermatitis Enteropathica
Failure to thrive, Cerebral cortical atrophy, Weight loss ORPHA:37
Beta-Ketothiolase Deficiency
Spasticity, Ataxia, Extrapyramidal dyskinesia, Weight loss ORPHA:134
Takayasu Arteritis
Weight loss ORPHA:3287
Giant Cell Arteritis
Optic atrophy, Ataxia, Paresthesia, Weight loss ORPHA:397
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Hypercalcemia, Palpitations, Hypertensive crisis, Hypertensi... ORPHA:653
Sarcoidosis
Hemolytic anemia, Abnormal cardiac ventricular function, Hypercalcemia, Portal hypertension, Scar... ORPHA:797
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Enthesitis, Hypophosphatemic rickets, Hypocalcemic tetany, Tooth abscess ORPHA:289176
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Oromandibular Dystonia
Blepharospasm, Torticollis, Hyperkinetic movements, Weight loss ORPHA:93958
Immunodeficiency 27A
Weight loss OMIM:209950
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Hypercalcemia, Hematochezia, Multiple lipomas, Lipoma ORPHA:913
Focal Myositis
Weight loss ORPHA:48918
Vipoma
Hypercalcemia, Hematochezia, Hypokalemia, Normochromic anemia, Subcutaneous lipoma ORPHA:97282
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Restrictive cardiomyopathy, Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Cerebral atrophy, Weight loss, T... OMIM:615846
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Weight loss ORPHA:142
Polymyositis
Gait disturbance, Weight loss ORPHA:732
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Somatostatinoma
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Hypercalcemia, Subcutaneous lipoma ORPHA:97283
Multiple Endocrine Neoplasia Type 1
Short attention span, Hypercalcemia, Confusion, Shortened QT interval, Hematemesis, Depression, M... ORPHA:652
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Charge Syndrome
Omphalocele, Hypocalcemia, Pulmonic stenosis, Umbilical hernia, Lymphopenia OMIM:214800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Cachexia, Weight loss ORPHA:83469
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Limb joint contracture OMIM:620327
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Abnormal odontoid tissue morpho... ORPHA:79255
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Ar... OMIM:617301
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Subcutaneous lipoma OMIM:131100
Isolated Permanent Neonatal Diabetes Mellitus
Peripheral axonal neuropathy, Ataxia, Weight loss, Apraxia, Failure to thrive ORPHA:99885
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Spastic hemiparesis, Weight loss, Myoclonus, Spasticity ORPHA:20
Ppoma
Gastrointestinal hemorrhage, Hypercalcemia, Subcutaneous lipoma ORPHA:97278
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Leishmaniasis
Weight loss ORPHA:507
Kaposi Sarcoma
Weight loss ORPHA:33276
Xfe Progeroid Syndrome
Cachexia, Poor coordination, Optic atrophy, Defective DNA repair after ultraviolet radiation dama... OMIM:610965
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Cachexia, Tremor, Obesity, Decreased testicular size ORPHA:85293
Whipple Disease
Ataxia, Abnormal pyramidal sign, Myoclonus, Cachexia ORPHA:3452
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response, Hypoasparaginemia OMIM:615574
Chronic Beryllium Disease
Weight loss ORPHA:133
Osteosarcoma
Weight loss ORPHA:668
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Spasticity, Optic atrophy, Ataxia, Cachexia ORPHA:220295
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Erdheim-Chester Disease
Abnormal cerebellum morphology, Ataxia, Weight loss ORPHA:35687
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Tetrasomy 12P
Cachexia ORPHA:884
Poems Syndrome
Papilledema, Paresthesia, Hyperesthesia, Weight loss ORPHA:2905
Familial Glucocorticoid Deficiency
Cryptorchidism, Testicular adrenal rest tumor, Tetraplegia, Weight loss, Azoospermia, Leydig cell... ORPHA:361
Cap Polyposis
Weight loss ORPHA:160148
African Trypanosomiasis
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... ORPHA:3385
Bullous Pemphigoid
Weight loss ORPHA:703
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Grfoma
Gastrointestinal hemorrhage, Hypercalcemia, Subcutaneous lipoma ORPHA:97261
Congenital Tufting Enteropathy
Optic disc coloboma, Failure to thrive, Weight loss ORPHA:92050
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Medullary Thyroid Carcinoma
Pheochromocytoma, Weight loss ORPHA:1332
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Portal hypertension, Conjugated hyperbilirubinemia, Spl... OMIM:243800
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Hypoesthesia, Distal sensory impairment, Weight loss, Slender build OMIM:603041
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Neuroendocrine Tumor Of The Colon
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response, Cognitive impairment OMIM:617527
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Yao Syndrome
Weight loss OMIM:617321
Loeffler Endocarditis
Weight loss ORPHA:75566
8P23.1 Microdeletion Syndrome
Cryptorchidism, Obesity, Weight loss ORPHA:251071
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Failure to thrive, Cachexia ORPHA:217346
Neuroendocrine Tumor Of The Rectum
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100082
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Igg4-Related Aortitis
Weight loss ORPHA:449400
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size ORPHA:813
Alveolar Echinococcosis
Hemiparesis, Ataxia, Weight loss ORPHA:284
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Weight loss ORPHA:465508
Felty Syndrome
Weight loss ORPHA:47612
Aredyld Syndrome
Cachexia ORPHA:1133
Primary Hepatic Neuroendocrine Carcinoma
Neuroendocrine neoplasm, Carcinoid tumor, Weight loss ORPHA:100085
Short Syndrome
Weight loss ORPHA:3163
Nephroblastoma
Weight loss ORPHA:654
Simple Cryoglobulinemia
Paresthesia, Spontaneous pain sensation, Weight loss ORPHA:91139
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Exaggerated startle response, Dystonia ORPHA:521426
Bronchial Neuroendocrine Tumor
Pulmonary carcinoid tumor, Weight loss ORPHA:97287
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Trisomy 18
Cachexia, Spina bifida, Cryptorchidism, Hypertonia, Chiari malformation ORPHA:3380
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Abnormal testis morphology, Oligozoospermia, Weight loss ORPHA:85450
Rheumatoid Arthritis
Weight loss OMIM:180300
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Wolman Disease
Cachexia ORPHA:75233
Behçet Disease
Ataxia, Orchitis, Abnormal pyramidal sign, Weight loss, Hemiparesis, Gait disturbance, Paresthesia ORPHA:117
Pemphigus Vulgaris
Weight loss ORPHA:704
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Subcutaneous lipoma ORPHA:276152
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... ORPHA:79102
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss ORPHA:54251
Malignant Atrophic Papulosis
Pain insensitivity, Weight loss ORPHA:679
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hand tremor, Weight loss ORPHA:424
Williams-Beuren Syndrome
Short attention span, Inguinal hernia, Hypercalcemia, Portal hypertension, Flexion contracture, H... OMIM:194050
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Pneumocystosis
Weight loss ORPHA:723
Neuroendocrine Tumor Of Stomach
Paraganglioma, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100075
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Primary Myelofibrosis
Cachexia ORPHA:824
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Broad-based gait, Cachexia, Paralysis, Spastic paraplegia, Limb ataxia, Azoospermia,... ORPHA:2072
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Camurati-Engelmann Disease
Waddling gait, Ataxia, Facial palsy, Cachexia, Optic atrophy, Optic nerve compression, Slender build ORPHA:1328
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Cystic Echinococcosis
Abnormality of the testis size, Weight loss ORPHA:400
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Familial Thrombocytosis
Paresthesia, Weight loss ORPHA:71493
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Schwartz-Jampel Syndrome
Cachexia, Blepharospasm, Hypertonia, Gait disturbance, Decreased body weight, Testicular torsion,... ORPHA:800
Osteopetrosis, Autosomal Recessive 7
Anemia, Splenomegaly, Hypocalcemic seizures OMIM:612301
Thymoma
Weight loss ORPHA:99867
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Budd-Chiari Syndrome
Weight loss ORPHA:131
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Mucolipidosis Type Ii
Inability to walk, Weight loss ORPHA:576
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss ORPHA:99819
Fanconi Anemia
Abnormality of chromosome stability, Spina bifida, Cryptorchidism, Weight loss, Azoospermia, Abno... ORPHA:84
Al Amyloidosis
Weight loss ORPHA:85443
Sotos Syndrome
Hip contracture, Inguinal hernia, Hypercalcemia, Ankle flexion contracture, Tremor, Bilateral cam... ORPHA:821
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Cystinosis, Nephropathic
Failure to thrive in infancy, Cerebral atrophy, Weight loss OMIM:219800
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100086
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Polycythemia Vera
Weight loss ORPHA:729
Norrie Disease
Clonus, Cachexia, Cryptorchidism, Optic atrophy, Hypertonia, Aplasia/Hypoplasia of the cerebellum... ORPHA:649
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Weight loss ORPHA:49041
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response OMIM:618367
Brucellosis
Small for gestational age, Orchitis, Chorea, Weight loss, Failure to thrive ORPHA:1304
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Glioma, Cachexia ORPHA:647
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Klatskin Tumor
Weight loss ORPHA:99978
Q Fever
Weight loss ORPHA:781
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Decreased serum iron, Pulmonic stenosis, Dystonia, Uterine prolapse... ORPHA:438213
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Caroli Disease
Weight loss ORPHA:53035
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis, Weight loss ORPHA:91347
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Kikuchi-Fujimoto Disease
Ataxia, Weight loss ORPHA:50918
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Weight loss ORPHA:100078
Castleman Disease
Weight loss ORPHA:160
Microsporidiosis
Cachexia, Weight loss ORPHA:2552
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Granulomatosis With Polyangiitis
Hemiplegia, Weight loss ORPHA:900
Pyomyositis
Testicular teratoma, Weight loss ORPHA:764
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Immunodeficiency 31C
Weight loss OMIM:614162
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Shuffling gait, Weight loss ORPHA:740
Rat-Bite Fever
Weight loss ORPHA:31205
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic endocrine tumor, Increased body weight, Weight loss, Pulmonary carcinoid tumor, Trunca... ORPHA:99889
Seckel Syndrome
Cachexia ORPHA:808
Pulmonary Alveolar Microlithiasis
Testicular microlithiasis, Weight loss ORPHA:60025
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Postinfectious Vasculitis
Orchitis, Weight loss ORPHA:48435
Reactive Arthritis
Weight loss ORPHA:29207
Marfan Syndrome
Slender build, Cachexia, Dural ectasia ORPHA:558
Pancreatoblastoma
Weight loss ORPHA:677
Tropical Pancreatitis
Weight loss ORPHA:103918
Igg4-Related Dacryoadenitis And Sialadenitis
Optic nerve compression, Weight loss ORPHA:79078
Malt Lymphoma
Weight loss ORPHA:52417
Sarcoidosis, Susceptibility To, 1
Optic neuropathy, Weight loss OMIM:181000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased testicular size, Failure to thrive, Testicular adrenal rest tumor, Weight loss ORPHA:90794
Dermatomyositis
Weight loss ORPHA:221
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Nocardiosis
Weight loss ORPHA:31204
Stickler Syndrome
Hemiplegia/hemiparesis, Slender build, Cachexia ORPHA:828
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:619522
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Weight loss ORPHA:91500
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Proteus Syndrome
Macroorchidism, Testicular neoplasm, Cachexia ORPHA:744
Goodpasture Syndrome
Weight loss OMIM:233450

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 Spg11

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 Spg11.

No publications found that use IMPC mice or data for Spg11.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Spg11em1(IMPC)J Exon Deletion Mice

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