Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity |
OMIM:162600 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:608236 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Impaired proprioception, Impaired temperature sensatio... |
DECIPHER:29 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... |
OMIM:607734 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Paresthesia, Spontaneous pain sensation, Peripheral demyelination, Decrea... |
ORPHA:2932 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal loss, Decreased nerve con... |
OMIM:611228 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segm... |
OMIM:601098 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Distal sensory impairment, Peripheral axonal neuropathy, Decreased number of large peripheral mye... |
OMIM:608673 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination |
OMIM:162500 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Axonal loss, Abnormality of somatosensory evoked poten... |
ORPHA:206594 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... |
OMIM:605253 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of large p... |
OMIM:615376 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Paresthesia, Decreased sensory nerve conduction veloci... |
ORPHA:101081 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... |
OMIM:610100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:118210 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Axonal regeneration, Decre... |
OMIM:605285 |
Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, CNS hypomyelination... |
ORPHA:280234 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Dis... |
OMIM:601382 |
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,... |
OMIM:618912 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:605589 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Distal sensory impairment, Perip... |
OMIM:609311 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:614895 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Dist... |
OMIM:180800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:605588 |
Charcot-Marie-Tooth Disease, Axonal, Type 2O |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:614228 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormal myelination |
ORPHA:431329 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Paresthesia |
ORPHA:640 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Impaired vibration sensation at ankles, Decreased number of large peripheral myelinated nerve fib... |
ORPHA:90103 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:607706 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Distal sensory impairment, Peripheral demyelination, Decreased nerve conduction velocity |
ORPHA:99944 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal perive... |
OMIM:249900 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Peripheral axonal neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction veloci... |
ORPHA:99939 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Abnormal nerve conduction velocity, Gait disturbance, Ataxia |
ORPHA:101075 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Axonal degenerati... |
OMIM:609260 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Dysphagia, Cough, Tremor, Abnormal peripheral action potential amplitude, Inability to walk, Abno... |
ORPHA:90117 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Peripheral axonal at... |
OMIM:600882 |
Leukodystrophy, Hypomyelinating, 18 |
|
Dysmetria, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Abnorma... |
OMIM:618404 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Distal sensory impairment, Decreased nerve conduction velocity, Microcephaly |
OMIM:615284 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Gait disturbance, Peripheral axonal neuropathy, Tremor... |
ORPHA:101077 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Gait disturbance, Dysphagia, Tremor, Inability to walk, Abnormal sensory nerve conduction velocity |
ORPHA:276435 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:302801 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Myel... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... |
OMIM:214400 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:601455 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity, Som... |
ORPHA:101082 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... |
ORPHA:99953 |
Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Choreoathetosis, Decreased nerve conduction velocity, Dysdiadoc... |
ORPHA:98890 |
Charcot-Marie-Tooth Disease Type 4A |
|
Motor conduction block, Impaired distal proprioception, Decreased number of large peripheral myel... |
ORPHA:99948 |
Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Pain insensitivity, Abnormal peripheral myelination, Impaired tactile sensation |
OMIM:147530 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Dist... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Peripheral axonal neuropathy |
OMIM:613287 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Peri... |
OMIM:118200 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Impaired vibration sensation in the lower limbs, Distal sensory impairment, Decreased nerve condu... |
ORPHA:352675 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607831 |
Mental Retardation, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Distal sensory impairment, Decreased compound muscle action potential amplitude, Compound muscle ... |
OMIM:616040 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormality of peripheral nerve conduction, Gait disturbance, Dysphagia, Difficulty walking |
ORPHA:101001 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... |
OMIM:601596 |
Macular Degeneration, Age-Related, 3 |
|
Distal sensory impairment, Peripheral axonal neuropathy, Decreased nerve conduction velocity |
OMIM:608895 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Gait disturbance, Ataxia, Decreased nerve conduction velocity |
ORPHA:101078 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Spastic gait, Abnormal myelination |
ORPHA:401840 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Decreased compound muscle action potential amplitude, Difficulty walking |
OMIM:619112 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells |
ORPHA:65684 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Impaired pain sensation, Impaired vibratory sensation,... |
ORPHA:3115 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Cerebral cortical atrophy |
ORPHA:1188 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Decreased nerve conduction velocity |
OMIM:183050 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Impaired vibratory sensation, Abnormal motor nerve conduction velocity |
ORPHA:139536 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:619279 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal ... |
OMIM:252320 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1368 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Gait disturbance, Tremor, Ataxia, Abnormal nerve conduction velocity |
ORPHA:99014 |
Ataxia-Pancytopenia Syndrome |
|
Dysmetria, Decreased nerve conduction velocity, Distal sensory impairment, Impaired vibration sen... |
OMIM:159550 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Peripheral axonal neuropathy |
OMIM:600361 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Choreoathetosis, Cerebral hypomyelinati... |
OMIM:608804 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy, Decreased nerve conduction velocity, Choreoathetosis |
OMIM:614932 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Optic atrophy, Dysphagia, Gait disturbance, Abnormality of somatosensory evoked ... |
ORPHA:98755 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Optic atrophy, Motor axonal neuropathy, Decreased nerve conduction velocity, Sensory axonal neuro... |
ORPHA:457205 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity |
OMIM:607678 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity |
ORPHA:868 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Distal sensory impairment, Decre... |
OMIM:604563 |
Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy, Leukodystrophy, Ataxia, Abnormal periventricular white matter morphology, Delayed ... |
OMIM:616881 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... |
OMIM:614436 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Impaired distal proprioception, Decreased number of la... |
OMIM:162400 |
Krabbe Disease |
|
Optic atrophy, CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity, ... |
OMIM:245200 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... |
OMIM:302800 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Inability to walk, Respiratory insufficiency due to mu... |
OMIM:618184 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Peripheral axonal neuropathy, Paresthesia, Impaired pain sensation, Decreased nerve conduction ve... |
ORPHA:435387 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Chronic axonal neuropathy |
OMIM:606595 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Trophic limb changes, Axonal loss, Orthostatic hypotension, Gliosis, Decreased nerve conduction v... |
OMIM:118301 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy, Decreased amplitu... |
ORPHA:99950 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Postural tremor, Spastic gait, Abnormal motor nerve conduction velocity |
ORPHA:100998 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... |
ORPHA:98856 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Decreased motor nerve conduction velocity, Cerebral hypomyelination, Facial palsy, Cerebral atrop... |
OMIM:601170 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Distal sensory impairment, Decreased nerve conduction velocity |
OMIM:302802 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Respiratory insufficiency, Failure to thrive, Dysmetria, Decreased nerve conduction velocity, Int... |
OMIM:618356 |
Developmental And Epileptic Encephalopathy 54 |
|
EEG abnormality, Delayed myelination |
OMIM:617391 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal sensory impairment, Impaired distal vibration sensation, Decreased compound muscle action ... |
OMIM:619519 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy, Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Leukoence... |
OMIM:603472 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Decreased number of large periph... |
OMIM:270550 |
Pulmonary Blastoma |
|
Weight loss, Dyspnea, Recurrent pneumonia, Cough |
ORPHA:64741 |
Developmental And Epileptic Encephalopathy 91 |
|
Multifocal epileptiform discharges, Unsteady gait, Hypsarrhythmia, Delayed myelination |
OMIM:617711 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity |
OMIM:615575 |
Cednik Syndrome |
|
Optic atrophy, Abnormal corpus callosum morphology, Pachygyria, Ataxia, Polymicrogyria, Abnormali... |
ORPHA:66631 |
Wild Type Abeta2M Amyloidosis |
|
Axonal loss, Paresthesia, Decreased nerve conduction velocity, Decreased amplitude of sensory act... |
ORPHA:85446 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired proprioception, Paresthesia, Decreased number of large peripheral myelinated nerve fiber... |
ORPHA:101085 |
Late-Infantile/Juvenile Krabbe Disease |
|
Gait disturbance, Loss of ambulation, Decreased nerve conduction velocity, Abnormal CNS myelinati... |
ORPHA:206443 |
Spinocerebellar Ataxia 10 |
|
Dysmetria, Decreased nerve conduction velocity, Progressive cerebellar ataxia, Dysdiadochokinesis... |
OMIM:603516 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Abnormal corpus striatum morphology, Choreoathetosis, Abnormal corpus callosum morphology, Decrea... |
ORPHA:319514 |
Idiopathic Achalasia |
|
Wheezing, Dysphagia, Recurrent aspiration pneumonia, Weight loss, Cough |
ORPHA:930 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:118300 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Spastic gait, Limb tremor, Abnormal myelination, Difficulty walking |
ORPHA:401820 |
Leukodystrophy, Hypomyelinating, 5 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Truncal titubation, Leukodystrop... |
OMIM:610532 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Gliosis, Decreased nerve conduction velocity, Ataxia, Cerebral atrophy |
OMIM:256600 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Chorea, Peripheral dem... |
OMIM:604168 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Impaired pain sensation, Hand paresthesia, Distal sens... |
OMIM:613640 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Decreased distal sensory nerve action potential, Peripheral axonal neuropathy, Impaired distal ta... |
OMIM:618400 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Optic atrophy, Dysmetria, Decreased nerve conduction velocity, Distal sensory impairment, Ataxia |
OMIM:612674 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Axonal degeneration, Decreased nerve conduction velocity, Abnormal cerebral white matter morphology |
OMIM:618138 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology, Impaired... |
ORPHA:139578 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Painless fractures due to injury, Decreased sensory nerve conduction velocity, Decreased number o... |
OMIM:201300 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Peripheral demyelination, Absent brainstem auditory responses, Decreased nerve conduction velocit... |
OMIM:609136 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Gait disturbance, Decreased nerve conduction velocity, Truncal obesity |
ORPHA:2928 |
Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Distal sensory impairment, Ab... |
OMIM:606070 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity, Impaired pain sensation |
ORPHA:2926 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Facial palsy |
OMIM:607684 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Impaired proprioception, Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral d... |
OMIM:609033 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Impaired proprioception, Optic disc pal... |
OMIM:164400 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss, Dysphagia, Cough |
ORPHA:70482 |
Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Diffuse axonal swelling, Peripheral axonal neuropathy, Apneic episodes in infancy,... |
ORPHA:35069 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Paresthesia, Dysmetria, Motor axonal neuropathy, Ataxia, Abnormality of peripheral nerve conducti... |
ORPHA:48431 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Decreased motor nerve conduction velocity |
OMIM:605726 |
Yuan-Harel-Lupski Syndrome |
|
Failure to thrive, Decreased nerve conduction velocity, Broad-based gait, Unsteady gait, Gait ata... |
OMIM:616652 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Decreased nerve conduction velocity, Microcephaly, Cerebral calcification |
ORPHA:1933 |
Metachromatic Leukodystrophy |
|
Optic atrophy, Chorea, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, Abn... |
OMIM:250100 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Abnormal myelination, Dysgyria, Hydrocephalus, Abnormal cerebral white matter morp... |
ORPHA:352682 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Optic atrophy, Dysphagia, Dystonia, Impaired visually ... |
ORPHA:95 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Ax... |
OMIM:218000 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Perisylvian polymicrogyria, Secondary m... |
OMIM:615663 |
Developmental And Epileptic Encephalopathy 14 |
|
Gliosis, Delayed myelination, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Micro... |
OMIM:614959 |
Tuberculosis |
|
Weight loss, Cough |
ORPHA:3389 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Dysphagia, Optic disc pallor, Opisthotonus, Weight loss, Cough, Inability to wa... |
ORPHA:216866 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss, Upper airway obstruction, Respiratory distress, Dyspnea, Aspiration pneumonia |
ORPHA:141152 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Peripheral axonal degeneration, Inspiratory stridor, Small for gestational age, Tachypnea, Failur... |
OMIM:604320 |
Developmental And Epileptic Encephalopathy 17 |
|
Athetosis, Chorea, Hypsarrhythmia, Cerebral atrophy, Hypoplasia of the corpus callosum, Delayed m... |
OMIM:615473 |
Isaac Syndrome |
|
Weight loss, EEG abnormality |
ORPHA:84142 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination, Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401830 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Optic atrophy, Inability to walk, Abnormal myelination, Respiratory insufficiency |
OMIM:618324 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Neuroendocrine neoplasm, Exertional dyspnea, Weight loss |
ORPHA:100083 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic atrophy, Abnormality of somatosensory evoked pot... |
ORPHA:1187 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Paresthesia, Decreased n... |
ORPHA:298 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Cachexia, Dysphagia, Dysmetria, Tremor, Ataxia, Gait ataxia |
OMIM:618093 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Abnormal myelination, Hypoplastic hippocampus, Cerebral ... |
ORPHA:85179 |
Riboflavin Transporter Deficiency |
|
Cachexia, Optic disc pallor, Abnormal cranial nerve morphology, Respiratory insufficiency, Dyspha... |
ORPHA:97229 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Dysphagia, Respiratory insufficiency due to muscle weakness, Decreased nerve conduction velocity,... |
ORPHA:600 |
Xeroderma Pigmentosum, Complementation Group B |
|
Optic atrophy, Decreased nerve conduction velocity, Abnormal CNS myelination, Ataxia, Basal gangl... |
OMIM:610651 |
Friedreich Ataxia |
|
Impaired proprioception, Optic atrophy, Decreased sensory nerve conduction velocity, Decreased am... |
OMIM:229300 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Abnormal myelination, Dystonic gait, Cerebral hypomyelination, Failure to thrive, Gliosis, Ataxia... |
ORPHA:280210 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Deep white matter hypodensities, Optic disc pallor, Decreased nerve conduction velocity, Hypsarrh... |
ORPHA:565624 |
Huntington Disease-Like 2 |
|
Dystonia, Gait disturbance, Weight loss |
ORPHA:98934 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Punctate periventricular T2 hyperintense foci, Leukodystrophy, Decreased nerve con... |
ORPHA:309256 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Impaired proprioception, Axonal degeneration, Positive Romberg sign, Abnormality of peripheral ne... |
ORPHA:88628 |
Huntington Disease-Like 2 |
|
Dystonia, Weight loss, Bradykinesia, Action tremor |
OMIM:606438 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Decreased nerve conduction velocity, Cerebral cortical atrophy |
OMIM:238970 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Decreased nerve conduction velocity, Tremor, Reduced vital capacity, Difficulty ... |
ORPHA:329478 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Abnormal ... |
OMIM:619026 |
Multifocal Motor Neuropathy |
|
Motor conduction block |
ORPHA:641 |
Folinic Acid-Responsive Seizures |
|
Optic atrophy, Dystonia, Cerebral hypomyelination, Apnea, Hypsarrhythmia, EEG with generalized sl... |
ORPHA:79097 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity, Hypsarrhythmia, Abnormal t... |
ORPHA:485421 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Axonal degeneration/... |
OMIM:601152 |
Juvenile Huntington Disease |
|
Dystonia, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-... |
ORPHA:248111 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Peripheral axonal neuropath... |
OMIM:256840 |
Sialidosis Type 1 |
|
Gait disturbance, Decreased nerve conduction velocity, Tremor, Ataxia, EEG abnormality |
ORPHA:812 |
Oculopharyngodistal Myopathy |
|
Recurrent aspiration pneumonia, Oral-pharyngeal dysphagia, Weight loss, Respiratory insufficiency... |
ORPHA:98897 |
Perry Syndrome |
|
Respiratory arrest, Dystonia, Respiratory insufficiency, Weight loss, Bradykinesia, Tremor, Centr... |
OMIM:168605 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Cachexia, Gait ataxia |
OMIM:612075 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Punctate periventricular T2 hyperintense foci, Leukodystrophy, Decreased nerve con... |
ORPHA:309263 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Onion bulb formation, Optic atrophy, Optic neuropathy, Decreased sensory nerve conduction velocit... |
ORPHA:320375 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Optic atrophy, Dysmetria, Vestibular areflexia, Intention tremor, Progressive cerebellar ataxia, ... |
ORPHA:504476 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Gait disturbance, Abnormal peripheral myelination, Abnormal myelination, Respiratory insufficienc... |
ORPHA:466768 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Microcephaly |
OMIM:615419 |
Pleural Mesothelioma |
|
Dysphagia, Abnormal respiratory system physiology, Weight loss, Cough, Respiratory distress, Dysp... |
ORPHA:50251 |
Lissencephaly 8 |
|
Optic atrophy, Abnormal myelination, Hypoplasia of the corpus callosum, Polymicrogyria, Lissencep... |
OMIM:617255 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Sensory axonal neuropathy, Decreased amplitude of sensory ac... |
OMIM:618733 |
Charcot-Marie-Tooth Disease Type 1E |
|
Acroparesthesia, Impaired temperature sensation, Abnormality of pain sensation, Decreased nerve c... |
ORPHA:90658 |
Huntington Disease-Like 1 |
|
Gait disturbance, Dysmetria, Weight loss, Gliosis, Bradykinesia, EEG abnormality, Gait ataxia |
ORPHA:157941 |
Chronic Hiccup |
|
Weight loss, Abnormal eating behavior |
ORPHA:396 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Gait imbalance, Steppage gait, Motor axonal neuropathy, Abnormality of the autonomic nervous syst... |
ORPHA:36386 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Abnormal myelination, Failure to thrive, EEG with multifocal slow activity, Hypsar... |
ORPHA:442835 |
Huntington Disease |
|
Gait disturbance, Dystonia, Gait imbalance, Polyphagia, Decreased body mass index, Weight loss, C... |
ORPHA:399 |
Hurler-Scheie Syndrome |
|
Rhinitis, Abnormal nerve conduction velocity |
ORPHA:93476 |
Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Punctate periventricular T2 hyperintense foci, Orthostatic hypotension due to auto... |
ORPHA:309271 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormality of peripheral nerves, Abnormality of peripheral nerve conduction, Abnormal peripheral... |
ORPHA:168563 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Gait disturbance, Optic neuropathy, Optic disc pallor,... |
ORPHA:101076 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Optic atrophy, Respiratory insufficiency, Failure to t... |
ORPHA:99949 |
Hodgkin Lymphoma |
|
Weight loss, Dyspnea, Ataxia, Cough |
ORPHA:98293 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Weight loss, Cachexia, Slender build, Ataxia |
OMIM:613662 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Impaired proprioception, Peripheral axonal neuropathy,... |
OMIM:606002 |
Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, Small for gestational age, Respiratory insufficiency |
OMIM:615368 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Gliosis, Cerebral atrophy, CNS hypomyelination, Delayed myelination, Microcephaly |
OMIM:615095 |
Perry Syndrome |
|
Tremor, Weight loss, Central hypoventilation |
ORPHA:178509 |
Hereditary Central Diabetes Insipidus |
|
Weight loss, Polydipsia, Lethargy |
ORPHA:30925 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Decreased nerve conduction velocity |
ORPHA:397744 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Dystonia, Cachexia, Dysphagia, Opisthotonus, Head titubation, Arm dystonia, Axial dystonia, Oroma... |
ORPHA:300605 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Impaired proprioception, Abnormal cranial nerve morpho... |
ORPHA:79138 |
Oromandibular Dystonia |
|
Dysphagia, Lingual dystonia, Torticollis, Weight loss, Laryngeal dystonia, Respiratory distress, ... |
ORPHA:93958 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... |
ORPHA:909 |
Infantile Krabbe Disease |
|
Optic atrophy, Hypointensity of cerebral white matter on MRI, Hyperesthesia, Decreased nerve cond... |
ORPHA:206436 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Dysphagia, Gait imbalance, Abnormal eating behavior, Tremor, Hyperactivity, Ataxia, EEG abnormali... |
ORPHA:98794 |
Rett Syndrome |
|
Dystonia, Cachexia, Apnea, EEG abnormality, Truncal ataxia, Gait ataxia, Intermittent hyperventil... |
OMIM:312750 |
Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Cachexia, Crackles, Abnormal respiratory system physiology, Bronchiec... |
ORPHA:60033 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Bronchiectasis, Weight loss, Pulmonary arterial hypertension, Cough, A... |
ORPHA:1164 |
Asparagine Synthetase Deficiency |
|
Respiratory insufficiency, Failure to thrive, Exaggerated startle response, Hypsarrhythmia, Delay... |
OMIM:615574 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Hypoxemia, Chronic pulmonary obstruction, Bronchiectasis, Weight loss, Reduced FEV1/FVC... |
ORPHA:79127 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Decreased nerv... |
ORPHA:477817 |
Benign Schwannoma |
|
Abnormal cranial nerve morphology, Vestibular Schwannoma, Facial palsy, Peripheral Schwannoma, Ab... |
ORPHA:252164 |
D-Bifunctional Protein Deficiency |
|
Gliosis, Decreased nerve conduction velocity, Corpus callosum atrophy, Hypoplasia of the corpus c... |
OMIM:261515 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Optic atrophy, Respiratory insufficiency, Decreased distal sensory nerve action potential, Myelin... |
ORPHA:99956 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia, Respiratory insufficiency |
ORPHA:157973 |
Hereditary Late-Onset Parkinson Disease |
|
Dystonia, Dysphagia, Orthostatic hypotension due to autonomic dysfunction, Weight loss, Gliosis, ... |
ORPHA:411602 |
Cryptogenic Organizing Pneumonia |
|
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Weight loss, Cough, Respirat... |
ORPHA:1302 |
Cockayne Syndrome A |
|
Peripheral dysmyelination, Optic atrophy, Abnormal peripheral myelination, Abnormal auditory evok... |
OMIM:216400 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination, EEG with multifocal slow activity, Primary microcephaly, Diffuse cerebral a... |
ORPHA:289266 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss, Polydipsia, Lethargy |
ORPHA:178029 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss, Dysphagia |
ORPHA:2198 |
Trigeminal Neuralgia |
|
Peripheral demyelination, Cranial nerve compression, CNS demyelination, Allodynia |
ORPHA:221091 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss, Polyphagia |
OMIM:275000 |
Congenital Disorder Of Deglycosylation 1 |
|
Athetosis, Impaired oral bolus formation, Dysmetria, Decreased sensory nerve conduction velocity,... |
OMIM:615273 |
Cockayne Syndrome B |
|
Peripheral dysmyelination, Optic atrophy, Abnormal peripheral myelination, Abnormal auditory evok... |
OMIM:133540 |
Peroxisome Biogenesis Disorder 4B |
|
Optic atrophy, Ataxia, Decreased nerve conduction velocity |
OMIM:614863 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Gait disturbance, Failure to thrive, Absent brainstem auditory responses, Tremor, ... |
ORPHA:90321 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Abnormal respiratory system physiology, Respiratory insuffici... |
ORPHA:133 |
Fatal Familial Insomnia |
|
Dysphagia, Weight loss, Apnea, Ataxia, Abnormal autonomic nervous system physiology |
OMIM:600072 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Dysmetria, Decreased sensory nerve conduction velocity... |
ORPHA:456312 |
Diencephalic Syndrome |
|
Optic atrophy, Cachexia, Decreased body weight |
ORPHA:1672 |
Acute Myelomonocytic Leukemia |
|
Weight loss, Dyspnea |
ORPHA:517 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Weight loss, Cough, Respir... |
ORPHA:411703 |
Christianson Syndrome |
|
Dystonia, Cachexia, Dysphagia, Truncal ataxia, Gait ataxia |
ORPHA:85278 |
Scheie Syndrome |
|
Rhinitis, Abnormal nerve conduction velocity |
ORPHA:93474 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Stridor, Weight loss, Cough, Upper airway obstruction, Respiratory distress, Dyspnea |
ORPHA:142 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Choreoathetosis, Interictal epileptiform activity, Abn... |
ORPHA:79139 |
Chediak-Higashi Syndrome |
|
Gait disturbance, Spontaneous, recurrent epistaxis, Decreased nerve conduction velocity, Tremor, ... |
OMIM:214500 |
Poliomyelitis |
|
Dysphagia, Abnormal motor nerve conduction velocity, Inability to walk, Respiratory failure, Resp... |
ORPHA:2912 |
Metachromatic Leukodystrophy |
|
Gait disturbance, Dystonia, Decreased nerve conduction velocity, Tremor, Ataxia, Tip-toe gait |
ORPHA:512 |
Cockayne Syndrome |
|
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Gliosis, Decreased nerve conducti... |
ORPHA:191 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Dystonia, Cachexia, Respiratory insufficiency, Facial diplegia, CNS hypomyelination |
OMIM:618186 |
Multiple Sulfatase Deficiency |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Hydrocephalus, Microcephaly |
ORPHA:585 |
Flynn-Aird Syndrome |
|
Ataxia, Cachexia, EEG abnormality |
ORPHA:2047 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
CNS hypomyelination, Exaggerated startle response, Delayed myelination |
OMIM:618367 |
Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Failure to thrive in infancy, Gait disturbance, Cachexia, Respiratory insufficienc... |
ORPHA:702 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Hypoxemia, Crackles, Weight loss, Asthma, Nonproductive cough, Restrictive ventilatory ... |
ORPHA:2902 |
Oculopharyngodistal Myopathy 1 |
|
Dysphagia, Hypercapnia, Respiratory insufficiency due to muscle weakness, Weight loss, Facial pal... |
OMIM:164310 |
Gm1 Gangliosidosis |
|
Optic atrophy, Dysphagia, Dystonia, Gait disturbance, Failure to thrive, Weight loss, Tremor, Ata... |
ORPHA:354 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Weight loss, Exertional dyspnea, ... |
ORPHA:723 |
Non-Functioning Paraganglioma |
|
Weight loss, Cranial nerve compression, Paraganglioma, Tremor, Paraganglioma of head and neck |
ORPHA:94080 |
Classic Hodgkin Lymphoma |
|
Ataxia, Weight loss, Cough, Respiratory insufficiency |
ORPHA:391 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Gerstmann-Straussler Disease |
|
Weight loss, Bradykinesia, Tremor, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:137440 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Weight loss, Respiratory distress, Ataxia, Lethargy |
ORPHA:79242 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Weight loss, Cough, Pulmonary venous hypertension, Increased DLCO, Restrictive ventila... |
ORPHA:90060 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Decreased distal sensory nerve act... |
OMIM:606071 |
Cockayne Syndrome Type 3 |
|
Peripheral axonal neuropathy, Optic disc pallor, Abnormal myelination, Intention tremor, Astrocyt... |
ORPHA:90324 |
Attrv30M Amyloidosis |
|
Weight loss, Abnormal autonomic nervous system physiology |
ORPHA:85447 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Athetosis, Optic atrophy, Impaired oral bolus formation, Axonal loss, Optic disc pallor, Obstruct... |
ORPHA:404454 |
X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Tremor, Hyperactivity, EEG abnormality, Broad-based gait, Obesity |
ORPHA:85293 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Follicular Lymphoma |
|
Weight loss, Pleural effusion |
ORPHA:545 |
Thymic Carcinoma |
|
Weight loss, Dyspnea, Cough |
ORPHA:99868 |
Pseudomyxoma Peritonei |
|
Weight loss, Respiratory insufficiency |
ORPHA:26790 |
Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
Chédiak-Higashi Syndrome |
|
Gait disturbance, Epistaxis, Decreased nerve conduction velocity, Tremor, Ataxia, Inability to wa... |
ORPHA:167 |
Hirschsprung Disease |
|
Weight loss, Failure to thrive in infancy, Aganglionic megacolon |
ORPHA:388 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss, Lethargy |
OMIM:143880 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss, Respiratory insufficiency |
ORPHA:1842 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Hurler Syndrome |
|
Abnormal nerve conduction velocity, Hydrocephalus |
ORPHA:93473 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination, Microcephaly |
OMIM:617333 |
Rhabdoid Tumor |
|
Weight loss, Respiratory insufficiency |
ORPHA:69077 |
Lymphoid Interstitial Pneumonia |
|
Wheezing, Hypoxemia, Crackles, Bronchiectasis, Failure to thrive, Weight loss, Cough, Pulmonary v... |
ORPHA:79128 |
Immunodeficiency 27A |
|
Weight loss, Abnormal bronchus physiology, Pneumonia |
OMIM:209950 |
Glossopharyngeal Neuralgia |
|
Weight loss, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Schwannoma, O... |
ORPHA:221098 |
Thymic Neuroendocrine Tumor |
|
Abnormal breath sound, Neuroendocrine neoplasm, Weight loss, Cough, Carcinoid tumor, Pancreatic i... |
ORPHA:97289 |
Takayasu Arteritis |
|
Weight loss, Pulmonary arterial hypertension, Abnormal pattern of respiration |
ORPHA:3287 |
Polyarteritis Nodosa |
|
Weight loss, Polyneuritis, Sensory axonal neuropathy |
ORPHA:767 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Cachexia, Aganglionic megacolon, Hyperactivity, Ataxia |
ORPHA:52503 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Isolated Succinate-Coq Reductase Deficiency |
|
Loss of ability to walk, Ataxia, Weight loss |
ORPHA:3208 |
Bronchial Neuroendocrine Tumor |
|
Wheezing, Pneumonia, Weight loss, Pulmonary carcinoid tumor, Asthma, Bronchospasm, Nonproductive ... |
ORPHA:97287 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Horner syndrome, Weight loss, Ataxia, Ganglioneuroma |
OMIM:256700 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Weight loss, Cranial nerve compression, ... |
ORPHA:276621 |
Eosinophilic Gastroenteritis |
|
Weight loss, Allergic rhinitis, Asthma, Dysphagia |
ORPHA:2070 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Inability to walk, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Polymyositis |
|
Gait disturbance, Respiratory insufficiency, Weight loss, Cough, Exertional dyspnea |
ORPHA:732 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormal lower motor neuron morphology, Respiratory insufficiency |
ORPHA:93941 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Obstructive sleep apnea, Cachexia, Severe failure to thrive, EEG abnormality |
ORPHA:371364 |
Xfe Progeroid Syndrome |
|
Optic atrophy, Cachexia |
OMIM:610965 |
Medullary Thyroid Carcinoma |
|
Weight loss, Pheochromocytoma, Dysphagia |
ORPHA:1332 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor, Weight loss, Small for gestational age |
ORPHA:424 |
Acquired Central Diabetes Insipidus |
|
Weight loss, Polydipsia |
ORPHA:95626 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Autonomic bladder dysfunction,... |
ORPHA:330001 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exertional dyspnea, Cachexia, Ataxia, Lethargy |
ORPHA:42 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Gait disturbance, Dysphagia, Respiratory insufficiency, Weight loss, Cough, Asthma |
ORPHA:183 |
Choreoacanthocytosis |
|
Dysphagia, Peripheral axonal neuropathy, Head titubation, Lingual dystonia, Loss of ambulation, W... |
ORPHA:2388 |
Wilson Disease |
|
Failure to thrive, Weight loss, Difficulty walking, Increased body weight |
ORPHA:905 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Weight loss, Abnormal autonomic nervous system physiology |
OMIM:605543 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Tachypnea, Weight loss, Apnea, Hypsarrhythmia, Ataxia, EEG abnormality, Lethargy |
ORPHA:20 |
Riddle Syndrome |
|
Gait disturbance, Pneumonia, Weight loss, Chronic sinusitis, Respiratory failure, Ataxia, Recurre... |
ORPHA:420741 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Decreased body weight, Allodynia |
ORPHA:51890 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Gait disturbance, Dystonia, Abnormal myelination, Bradykinesia, Astrocytosis, Dysdiadochokinesis,... |
ORPHA:309854 |
Malignant Peritoneal Mesothelioma |
|
Weight loss, Dyspnea |
ORPHA:168811 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Weight loss, Aganglionic megacolon, Polyphagia |
ORPHA:95427 |
Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Communicating hydrocephalus, Papilledema, Decreased nerve conduction velocity |
ORPHA:580 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Crackles, Weight loss, Cough, Decreased DLCO, Restrictive ventilatory defect, Dyspnea |
ORPHA:747 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Impaired proprioception, Distal sensory impairment, Ataxia, Impaired vibratory sensation, Abnorma... |
OMIM:302900 |
Beta-Ketothiolase Deficiency |
|
Tachypnea, Weight loss, Cough, Ataxia, Oral aversion |
ORPHA:134 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Wheezing, Weight loss, Failure to thrive in infancy, Cough |
ORPHA:171876 |
Systemic Capillary Leak Syndrome |
|
Weight loss, Rhinorrhea, Cough, Cardiorespiratory arrest, Pleural effusion |
ORPHA:188 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Weight loss, Recurrent pneumonia, Failure to thrive |
ORPHA:47 |
Friedreich Ataxia 2 |
|
Abnormality of peripheral nerve conduction, Ataxia, Impaired vibratory sensation |
OMIM:601992 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor, Weight loss |
ORPHA:99819 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination, Decreased response to growth hormone stimulation test, Anterior pituitary h... |
ORPHA:67045 |
Thymoma |
|
Weight loss, Dyspnea, Cough, Demyelinating peripheral neuropathy |
ORPHA:99867 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Trophic limb changes, Impaired temperature sensation, Orthostatic hypotension due to autonomic dy... |
ORPHA:642 |
Carney-Stratakis Syndrome |
|
Weight loss, Dysphagia, Paraganglioma |
ORPHA:97286 |
Al Amyloidosis |
|
Dysphagia, Obstructive sleep apnea, Weight loss, Autonomic erectile dysfunction, Postural hypoten... |
ORPHA:85443 |
Majeed Syndrome |
|
Failure to thrive, Weight loss, Cachexia, Cough |
ORPHA:77297 |
Leishmaniasis |
|
Rhinitis, Weight loss |
ORPHA:507 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Weight loss |
ORPHA:3226 |
Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Dystonia, Failure to thrive, Weight loss, Delayed CNS myelination |
OMIM:619487 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Aganglionic megacolon |
ORPHA:1438 |
Loeffler Endocarditis |
|
Weight loss, Dyspnea, Cough |
ORPHA:75566 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Weight loss, Cachexia |
ORPHA:1979 |
Neuroendocrine Tumor Of The Colon |
|
Carcinoid tumor, Bronchospasm, Weight loss, Atypical pulmonary carcinoid tumor |
ORPHA:100080 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Weight loss, Cranial nerve compression, ... |
ORPHA:29072 |
Yao Syndrome |
|
Weight loss, Asthma |
OMIM:617321 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Whipple Disease |
|
Cachexia, Respiratory insufficiency, Polydipsia, Cough, Ataxia |
ORPHA:3452 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Giant Cell Arteritis |
|
Optic atrophy, Weight loss, Epistaxis, Cough, Ataxia |
ORPHA:397 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Weight loss, Cachexia, Slender build |
OMIM:603041 |
Neuroendocrine Tumor Of The Rectum |
|
Carcinoid tumor, Bronchospasm, Weight loss, Atypical pulmonary carcinoid tumor |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Carcinoid tumor, Bronchospasm, Weight loss, Atypical pulmonary carcinoid tumor |
ORPHA:100082 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Neuroendocrine neoplasm, Weight loss, Carcinoid tumor, Bronchospasm, Dyspnea |
ORPHA:100085 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Neurotrophic Keratopathy |
|
Allodynia, Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Pulmonary arterial hypertension, Weight loss, P... |
ORPHA:2905 |
Desmoplastic Small Round Cell Tumor |
|
Weight loss, Cachexia |
ORPHA:83469 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Optic atrophy, Cachexia, Ataxia, Demyelinating peripheral neuropathy |
ORPHA:220295 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Felty Syndrome |
|
Sinusitis, Weight loss, Rhinitis, Recurrent pneumonia |
ORPHA:47612 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dysphagia, Failure to thrive, Weight loss, Cough, Dyspnea, Aspiration pneumonia |
ORPHA:1018 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Igg4-Related Aortitis |
|
Weight loss, Asthma |
ORPHA:449400 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss, Cough, Pleural empyema, Dyspnea, Pleural effusion |
ORPHA:67 |
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia |
|
Abnormal myelination |
ORPHA:34527 |
Acute Monoblastic/Monocytic Leukemia |
|
Exertional dyspnea, Weight loss |
ORPHA:514 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Pulmonary Alveolar Microlithiasis |
|
Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ... |
ORPHA:60025 |
Erdheim-Chester Disease |
|
Polydipsia, Weight loss, Cough, Ataxia, Dyspnea, Pleural effusion |
ORPHA:35687 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss, Optic disc coloboma |
ORPHA:92050 |
Acute Promyelocytic Leukemia |
|
Productive cough, Exertional dyspnea, Weight loss, Epistaxis |
ORPHA:520 |
8P23.1 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Weight loss |
ORPHA:251071 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Weight loss, Lethargy |
ORPHA:465508 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss, Dyspnea, Cough, Interstitial pneumonitis |
ORPHA:139402 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Toxic Epidermal Necrolysis |
|
Dysphagia, Polydipsia, Weight loss, Cough, Respiratory distress, Restrictive ventilatory defect |
ORPHA:537 |
Juvenile Dermatomyositis |
|
Dysphagia, Weight loss, Cough, Restrictive ventilatory defect, Dyspnea |
ORPHA:93672 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypoxemia, Dysphagia, Intercostal muscle weakness, Failure to thrive, Hypercapnia, Respiratory in... |
ORPHA:2020 |
Familial Colorectal Cancer Type X |
|
Attention deficit hyperactivity disorder, Gait disturbance, Weight loss |
ORPHA:440437 |
Hypermobile Ehlers-Danlos Syndrome |
|
Paresthesia, Decreased nerve conduction velocity |
ORPHA:285 |
Lynch Syndrome |
|
Attention deficit hyperactivity disorder, Gait disturbance, Weight loss |
ORPHA:144 |
Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Weight loss, Lethargy, Failure to thrive |
ORPHA:199299 |
Polycythemia Vera |
|
Weight loss, Epistaxis, Pulmonary embolism, Respiratory insufficiency |
ORPHA:729 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Neuroendocrine Tumor Of Stomach |
|
Atypical pulmonary carcinoid tumor, Weight loss, Paraganglioma, Carcinoid tumor, Bronchospasm |
ORPHA:100075 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Friedreich Ataxia And Congenital Glaucoma |
|
Ataxia, Impaired vibratory sensation, Decreased amplitude of sensory action potentials |
OMIM:229310 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Weight loss |
OMIM:212750 |
Stevens-Johnson Syndrome |
|
Dysphagia, Weight loss, Cough, Restrictive ventilatory defect, Dyspnea |
ORPHA:36426 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss, Asthma |
OMIM:619377 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Alveolar Echinococcosis |
|
Weight loss, Dyspnea, Ataxia, Cough |
ORPHA:284 |
Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Weight loss, Salt craving, Failure to thrive |
ORPHA:95409 |
Mucolipidosis Type Ii |
|
Stridor, Obstructive sleep apnea, Weight loss, Inability to walk, Restrictive ventilatory defect,... |
ORPHA:576 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Respiratory insufficiency, Weight loss, Rhinorrhea, Cough |
OMIM:608710 |
Malignant Atrophic Papulosis |
|
Respiratory failure, Weight loss, Pleural effusion |
ORPHA:679 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ataxia, Weight loss, Peripheral axonal neuropathy |
ORPHA:99885 |
Cystic Echinococcosis |
|
Weight loss, Asthma |
ORPHA:400 |
Monosomy 18Q |
|
Diffuse white matter abnormalities, Abnormal myelination, Choreoathetosis, Secondary growth hormo... |
ORPHA:1600 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Pleural effusion |
ORPHA:90362 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Silver-Russell Syndrome |
|
Obesity, Failure to thrive in infancy, Cachexia |
ORPHA:813 |
Q Fever |
|
Pneumonia, Weight loss, Cough, Respiratory distress, Pleural effusion |
ORPHA:781 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
Sarcoidosis, Susceptibility To, 1 |
|
Hypoxemia, Optic neuropathy, Bronchiectasis, Weight loss, Pulmonary arterial hypertension, Cough,... |
OMIM:181000 |
Thyrotoxic Periodic Paralysis |
|
Tremor, Obesity, Weight loss, Respiratory paralysis |
ORPHA:79102 |
Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Weight loss |
ORPHA:370348 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss |
ORPHA:2126 |
Adrenocortical Carcinoma |
|
Weight loss, Increased body weight |
ORPHA:1501 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
Nocardiosis |
|
Productive cough, Pneumonia, Pneumothorax, Weight loss, Respiratory distress, Nonproductive cough... |
ORPHA:31204 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Pneumonia, Weight loss, Decreased body weight, Increased body weight |
ORPHA:2298 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100086 |
Schwartz-Jampel Syndrome |
|
Gait disturbance, Cachexia, Respiratory insufficiency, Apnea, Pulmonary arterial hypertension, At... |
ORPHA:800 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Weight loss, Abnormal autonomic nervous system physiology |
ORPHA:71273 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss |
ORPHA:85450 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Castleman Disease |
|
Weight loss, Dyspnea, Cough |
ORPHA:160 |
Addison Disease |
|
Orthostatic hypotension, Weight loss, Salt craving, Failure to thrive |
ORPHA:85138 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
Hermansky-Pudlak Syndrome |
|
Weight loss, Dyspnea, Epistaxis |
ORPHA:79430 |
Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Chronic pulmonary obstruction, Respiratory insufficiency, Weight loss, Epistaxis, Coug... |
ORPHA:900 |
Familial Thrombocytosis |
|
Weight loss, Pulmonary arterial hypertension |
ORPHA:71493 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Weight loss, Cachexia, Pulmonary arterial hypertension |
ORPHA:275761 |
Behçet Disease |
|
Gait disturbance, Weight loss, Ataxia, Pulmonary embolism, Pleural effusion |
ORPHA:117 |
Camurati-Engelmann Disease |
|
Optic atrophy, Cachexia, Optic nerve compression, Slender build, Facial palsy, Ataxia, Waddling gait |
ORPHA:1328 |
Multiple Endocrine Neoplasia Type 1 |
|
Pancreatic endocrine tumor, Weight loss, Insulinoma, Cranial nerve compression, Carcinoid tumor, ... |
ORPHA:652 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Cachexia, Failure to thrive in infancy, Interstitial pneumonitis, Pneumonia, Respiratory distress |
ORPHA:37042 |
Vipoma |
|
Weight loss, Respiratory insufficiency due to muscle weakness, Ganglioneuroma |
ORPHA:97282 |
Degcags Syndrome |
|
Abnormal myelination, Pneumonia, Small for gestational age, Rhinitis, Failure to thrive, Choking ... |
OMIM:619488 |
Parathyroid Carcinoma |
|
Weight loss, Dysphagia, Polydipsia |
ORPHA:143 |
Chronic Graft Versus Host Disease |
|
Wheezing, Dysphagia, Airway obstruction, Bronchiectasis, Pneumothorax, Weight loss, Cough, Dyspne... |
ORPHA:99921 |
Microsporidiosis |
|
Sinusitis, Cachexia, Pneumonia, Rhinitis, Weight loss |
ORPHA:2552 |
Caroli Disease |
|
Weight loss |
ORPHA:53035 |
Reactive Arthritis |
|
Weight loss, Respiratory insufficiency |
ORPHA:29207 |
Brucellosis |
|
Small for gestational age, Pneumonia, Failure to thrive, Weight loss, Pleural effusion, Abnormali... |
ORPHA:1304 |
Ileal Neuroendocrine Tumor |
|
Weight loss, Small intestine carcinoid |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Weight loss, Small intestine carcinoid |
ORPHA:100077 |
African Trypanosomiasis |
|
Gait disturbance, Weight loss, Tremor, Papilledema, Akinesia, Difficulty walking |
ORPHA:3385 |
Zollinger-Ellison Syndrome |
|
Neuroendocrine neoplasm, Weight loss, Glucagonoma |
ORPHA:913 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Weight loss |
ORPHA:91347 |
Nijmegen Breakage Syndrome |
|
Respiratory failure, Cachexia, Recurrent pneumonia, Attention deficit hyperactivity disorder |
ORPHA:647 |
Grfoma |
|
Intestinal carcinoid, Pheochromocytoma, Weight loss |
ORPHA:97261 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis, Papilledema, Broad-b... |
ORPHA:2072 |
Ppoma |
|
Intestinal carcinoid, Weight loss |
ORPHA:97278 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss |
ORPHA:49041 |
Multiple Myeloma |
|
Weight loss, Pleural effusion |
ORPHA:29073 |
Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
Postinfectious Vasculitis |
|
Weight loss, Abnormality of the peripheral nervous system, Pneumonia |
ORPHA:48435 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Hutchinson-Gilford Progeria Syndrome |
|
Weight loss, Pulmonary arterial hypertension, Shuffling gait, Upper airway obstruction, Exertiona... |
ORPHA:740 |
Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
Fanconi Anemia |
|
Weight loss, Aganglionic megacolon |
ORPHA:84 |
Primary Sclerosing Cholangitis |
|
Weight loss, Pleural effusion |
ORPHA:171 |
Hepatocellular Carcinoma |
|
Weight loss, Dyspnea |
ORPHA:88673 |
Marfan Syndrome |
|
Cachexia, Slender build, Spontaneous pneumothorax, Attention deficit hyperactivity disorder, Emph... |
ORPHA:558 |
Dermatomyositis |
|
Weight loss, Pulmonary arterial hypertension, Respiratory insufficiency |
ORPHA:221 |
Sarcoidosis |
|
Bronchiectasis, Pneumothorax, Weight loss, Facial palsy, Cough, Upper airway obstruction, Dyspnea... |
ORPHA:797 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
Goodpasture Syndrome |
|
Crackles, Tachypnea, Weight loss, Cough, Exertional dyspnea, Increased DLCO, Restrictive ventilat... |
OMIM:233450 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Pyomyositis |
|
Weight loss |
ORPHA:764 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Igg4-Related Kidney Disease |
|
Weight loss, Chronic sinusitis, Interstitial pneumonitis |
ORPHA:449395 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Weight loss, Pleural effusion |
ORPHA:50918 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic endocrine tumor, Neuroendocrine neoplasm, Atypical pulmonary carcinoid tumor, Small in... |
ORPHA:99889 |
Glucagonoma |
|
Weight loss |
|