Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... |
OMIM:601098 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... |
DECIPHER:29 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co... |
ORPHA:2932 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im... |
OMIM:611228 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction |
OMIM:612577 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... |
OMIM:605253 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo... |
OMIM:162500 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Acute demyelinating polyneu... |
ORPHA:101081 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Abnormality of p... |
ORPHA:280234 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,... |
OMIM:618912 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Onion bulb format... |
OMIM:610100 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607706 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Decrease... |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:605589 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:609311 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607734 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination |
ORPHA:431329 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Distal se... |
OMIM:608323 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118210 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:620111 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Paresthesia |
ORPHA:640 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Ataxia, Tremor, Gait disturbance |
ORPHA:101075 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Impaired distal t... |
OMIM:616687 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination, Distal sensory impairment |
ORPHA:99944 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:180800 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:618184 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Abnormal sensory nerve conduction velocity, Gait disturbance, Dysphagia |
ORPHA:276435 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Self-injurious behavior, Decreased compound muscle action potential amplitude, Steppage gait, Ves... |
OMIM:613641 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:302801 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Somatic sensory dysfunction, Demyelinating sensory neuropathy, Demyelinating motor neuropathy, De... |
ORPHA:99939 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Inability to walk, Abnormali... |
ORPHA:90117 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Difficulty walking, Gait disturbance, Abnormality of peripheral nerve conduction, Dysphagia |
ORPHA:101001 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Tremor, Inability to walk, Restrictive ventilatory def... |
ORPHA:101077 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:605588 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:614895 |
Charcot-Marie-Tooth Disease Type 4A |
|
Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Dec... |
ORPHA:99948 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:214400 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Distal sens... |
ORPHA:352675 |
Leukodystrophy, Hypomyelinating, 18 |
|
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Dysmetria, Dystoni... |
OMIM:618404 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... |
OMIM:607684 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:605285 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607250 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Dysphagia, Abnormal nerve conduction velo... |
OMIM:619862 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:609260 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Somatic sensory dysfunction, Peripheral dysmyelination |
ORPHA:101082 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Decreased compound muscle action potential amplitude, Difficulty walking |
OMIM:619112 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Ataxia, Tremor, Gait disturbance |
ORPHA:101078 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... |
ORPHA:90103 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Spastic gait, Hand tremor, Abnormal myelination |
ORPHA:401840 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Decreased distal sensory... |
ORPHA:99953 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, CNS demyelination, Peripheral demyelination, Gait ataxia |
OMIM:249900 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Decreased nerve conduction velocity, Ataxia |
OMIM:183050 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Impaired vibratory sensation, Abnormal motor nerve conduction velocity |
ORPHA:139536 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Decreased nerve conduction velocity, Myelin outfoldings, Onion bulb formation, Distal sensory imp... |
OMIM:615284 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Somatic sensory dysfunct... |
ORPHA:3115 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Ataxia |
ORPHA:1368 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:619279 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:600882 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:99014 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude |
OMIM:605726 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Delayed m... |
ORPHA:599373 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:613287 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Choreoathetosis, Leukodystrophy |
OMIM:614932 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity |
ORPHA:868 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity |
OMIM:607678 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118200 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Distal sensory impairment |
OMIM:608895 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Optic atrophy, Dysphagia, Dysmetria, Progressive cerebellar ataxia, Respiratory ... |
ORPHA:98755 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Impaired vibratory sensation, Impaired distal proprioception, Decreased nerve conduction velocity... |
ORPHA:101097 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Ataxia |
ORPHA:1188 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:606595 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
Ataxia-Pancytopenia Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Dys... |
OMIM:159550 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi... |
OMIM:614399 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Impaired pain sensation, Decreased nerve conduction velocity, Impaired distal vibration sensation... |
ORPHA:435387 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Decreased compound muscle action potential amplitude, Hand tremor, Steppage gait, Difficulty walk... |
OMIM:618279 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Neonatal respiratory distress, Ataxia, Aggressive behavior, Decreased nerve conduction velocity, ... |
OMIM:618356 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:604563 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:600361 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Distal sensory impairment |
OMIM:302802 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, EEG abnormality, Dystonia,... |
ORPHA:457205 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Postural tremor, Spastic gait, Abnormal motor nerve conduction velocity |
ORPHA:100998 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Distal sensory impairment,... |
OMIM:612674 |
Krabbe Disease |
|
Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, EEG abnormality, CNS demyelina... |
OMIM:245200 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal sensory impairment... |
ORPHA:99950 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Abnormal autonomic nervous system physiology, Leukodystrophy |
DECIPHER:59 |
Pulmonary Blastoma |
|
Cough, Dyspnea, Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Tremor, Inability... |
OMIM:218000 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d... |
OMIM:243000 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:302800 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Impaired distal proprioception, Decreased number of la... |
OMIM:162400 |
Idiopathic Achalasia |
|
Wheezing, Dysphagia, Weight loss, Cough, Recurrent aspiration pneumonia |
ORPHA:930 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity |
OMIM:615575 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude, Impaired distal vibration sensation, Distal... |
OMIM:619519 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Ataxia, Impaired distal proprioception, Impaired dista... |
OMIM:616688 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, D... |
ORPHA:101085 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, De... |
OMIM:270550 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... |
ORPHA:206443 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity, Abolished vibration sense |
OMIM:620068 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Spastic gait, Limb tremor, Difficulty walking, Abnormal myelination |
ORPHA:401820 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Facial palsy, Dyspnea, Decreased compound muscle action potential amplitude, Dysph... |
OMIM:603511 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Impaired vibration sensation in the lower limbs, Impai... |
OMIM:270685 |
Wild Type Abeta2M Amyloidosis |
|
Decreased nerve conduction velocity, Dysesthesia, Paresthesia, Decreased amplitude of sensory act... |
ORPHA:85446 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Optic atrophy, Gliosis, Ataxia |
OMIM:256600 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Decreased nerve conduction velocity, Delayed myelination, Choreoathetosis, Limb dystonia, Failure... |
ORPHA:319514 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased sensory nerve c... |
OMIM:603472 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci... |
OMIM:201300 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Demyelinating motor neuropathy, ... |
OMIM:608804 |
Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Truncal titubation, CNS hypomyelination, Leukodystroph... |
OMIM:610532 |
Huntington Disease-Like 2 |
|
Weight loss, Gait disturbance, Dystonia |
ORPHA:98934 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Impaired pain sensation, Dysesthesia, Impaired vibrati... |
OMIM:613640 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Dystonia, Ataxia, Impulsivity, Cerebellar gliosis, Unsteady gait, Optic atrophy, A... |
ORPHA:35069 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity, Impaired pain sensation |
ORPHA:2926 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Steppage gait, Gait disturbance, Tremor |
OMIM:118300 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal sensory im... |
OMIM:614436 |
Spinocerebellar Ataxia 10 |
|
Decreased nerve conduction velocity, Limb ataxia, Distal sensory impairment, Dysmetria, Gait atax... |
OMIM:603516 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Truncal obesity, Gait disturbance |
ORPHA:2928 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation |
OMIM:613724 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
ORPHA:98856 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Akinesia, Tremor, Respiratory insufficiency, Weight los... |
OMIM:168605 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Ataxia, Impaired proprioception, Impaired vibration sensation in the lower limbs, Optic atrophy, ... |
OMIM:609033 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Impaired vibratory sensation, Impai... |
OMIM:164400 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Cough, Inability to walk, Weight loss, Opisthotonus, Tip... |
ORPHA:216866 |
Primary Lateral Sclerosis, Juvenile |
|
Decreased compound muscle action potential amplitude, Pseudobulbar paralysis, Dysphagia, Loss of ... |
OMIM:606353 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Weight loss, Addictive alcohol... |
ORPHA:399 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis,... |
OMIM:238970 |
Tuberculosis |
|
Cough, Weight loss |
ORPHA:3389 |
Mantle Cell Lymphoma |
|
Anorexia, Weight loss |
ORPHA:52416 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Ataxia, Cachexia, Tremor, Dysmetria, Gait ataxia, Dysphagia |
OMIM:618093 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
Isaacs Syndrome |
|
EEG abnormality, Weight loss |
ORPHA:84142 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology, Impaired... |
ORPHA:139578 |
Cednik Syndrome |
|
Ataxia, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:66631 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Dysmetria, Ataxia, Abnormality of peripheral nerve conduction, Intention tremor |
ORPHA:48431 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Leukodystrophy |
OMIM:619851 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Weight loss, Progressive cerebellar ataxia,... |
ORPHA:248111 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Decreased distal sensory nerve action potential, Gait disturbance |
OMIM:618400 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy, Dysphagia, Dysmetria... |
ORPHA:95 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Broad-based gait, Apnea, Ataxia, Delayed myelination, Optic atrophy, Multif... |
ORPHA:79097 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Ataxia, Chorea, Peripheral hypomyelination, Peripheral... |
OMIM:604168 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Decreased compound muscle action potential amplitude, Dysphagia |
OMIM:618323 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia, Limb ataxia, Gait ... |
OMIM:614575 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Aggressive behavior, Tremor, Respiratory insuf... |
ORPHA:97229 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
Laryngeal Neuroendocrine Tumor |
|
Exertional dyspnea, Oral-pharyngeal dysphagia, Anorexia, Weight loss |
ORPHA:100083 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity |
OMIM:618138 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Optic atrophy, Peripheral demyelination |
OMIM:250100 |
Rett Syndrome |
|
Dystonia, Apnea, Intermittent hyperventilation, Cachexia, Gait apraxia, Truncal ataxia, Gait atax... |
OMIM:312750 |
Optic Atrophy 11 |
|
Hyperactivity, Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, EEG with fo... |
OMIM:617302 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Ataxia, Severe demyelination of the white matter, Opti... |
ORPHA:1187 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Ataxia, Inability to walk, Dystonic gait, Titubation, Respiratory failure, Gliosis, Difficulty wa... |
ORPHA:280210 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Impulsivity, Tremor, Unsteady gait, Optic atrophy, EEG with multifocal slow activity, Hyp... |
ORPHA:442835 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Ataxia |
ORPHA:1933 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity, Respiratory insufficiency due to muscle weakness, Unsteady g... |
ORPHA:600 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Optic atrophy, Impaired proprioception, Limb ataxia, Gait a... |
OMIM:229300 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Hand tremor, Abnormal myelination |
ORPHA:401830 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Ax... |
OMIM:619026 |
Huntington Disease-Like 1 |
|
Restlessness, Dysmetria, Weight loss, Gait ataxia, EEG abnormality, Gliosis, Gait disturbance |
ORPHA:157941 |
Oromandibular Dystonia |
|
Respiratory distress, Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blephar... |
ORPHA:93958 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, Weight loss, Restric... |
ORPHA:98897 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Sensory a... |
OMIM:616192 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Decreased nerve conduction velocity, Tachypnea, Respiratory failure, F... |
OMIM:604320 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Weight loss, Co... |
ORPHA:50251 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... |
ORPHA:309256 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Cerebral dysmyelination, Shor... |
OMIM:609136 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Reduced vital capacity, Decreased nerve conduction velocity, Tremor, Facial diplegia, Difficulty ... |
ORPHA:329478 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy, Abnormal myelination |
ORPHA:352682 |
Multifocal Motor Neuropathy |
|
Motor conduction block |
ORPHA:641 |
Sialidosis Type 1 |
|
Ataxia, Decreased nerve conduction velocity, Tremor, EEG abnormality, Gait disturbance |
ORPHA:812 |
Chronic Hiccup |
|
Abnormal eating behavior, Weight loss |
ORPHA:396 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Tremor, Dysphagia |
ORPHA:397744 |
Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss |
ORPHA:2023 |
Yuan-Harel-Lupski Syndrome |
|
Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Gait ataxia, Failure to thr... |
OMIM:616652 |
Charcot-Marie-Tooth Disease Type 1E |
|
Impaired temperature sensation, Decreased nerve conduction velocity, Impaired vibration sensation... |
ORPHA:90658 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Cachexia, Respiratory insufficiency, CNS hypomyelinati... |
OMIM:618186 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Rhinitis |
ORPHA:93476 |
Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Abnormal CNS myelination, Optic atrophy, Ataxia |
OMIM:610651 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, Abnormal e... |
ORPHA:98794 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Cachexia, Gait ataxia, Weight loss, Failure to thrive |
OMIM:612075 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Cachexia, Decreased number of large peripheral myelina... |
ORPHA:298 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Gait ataxia, Ab... |
ORPHA:88628 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Abnormal myelination |
ORPHA:85179 |
Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, EEG with burst suppression, Small for gestational age, Respi... |
OMIM:615368 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Leg dystonia, Hypsarrhythmia, EEG abnorma... |
ORPHA:565624 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... |
OMIM:301830 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... |
OMIM:601152 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Decreased nerve conduction velocity, Unsteady gait, Peripheral hypomyelinat... |
OMIM:618733 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Ataxia, Cachexia, Head titubation, Inability to walk, Dysphagia, Opisthotonus, CN... |
ORPHA:300605 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Anorexia, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ... |
ORPHA:466768 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Leukodystrophy, Dyst... |
ORPHA:309263 |
Perry Syndrome |
|
Tremor, Central hypoventilation, Weight loss |
ORPHA:178509 |
Christianson Syndrome |
|
Dystonia, Cachexia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Abnormal repe... |
ORPHA:85278 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... |
ORPHA:485421 |
Huntington Disease-Like 2 |
|
Weight loss, Action tremor, Dystonia |
OMIM:606438 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased amplitude of sens... |
OMIM:256840 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Optic atrophy |
OMIM:615419 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Hand tremor, Step... |
ORPHA:101076 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination, Small for gestational age, Stereotypical hand wringing, EEG with multifocal... |
ORPHA:289266 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Inability to walk, Steppage gait, Gait imbalance, Cough, Abnormality of the autonomic nervous sys... |
ORPHA:36386 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Impulsivity, Akinesia, Weight loss, Agitation, Gliosis, Shuffling gait,... |
ORPHA:411602 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive gait ataxia, Leukodystrop... |
ORPHA:309271 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Steppage gait, Abnormal peripheral myelination, Abnormality of peripheral nerve conduction |
ORPHA:168563 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... |
ORPHA:1164 |
Idiopathic Bronchiectasis |
|
Cachexia, Crackles, Productive cough, Dyspnea, Wheezing, Bronchiectasis, Abnormal respiratory sys... |
ORPHA:60033 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve c... |
ORPHA:206436 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Weight los... |
ORPHA:79127 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Dist... |
ORPHA:477817 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Slender build, Cachexia, Weight loss |
OMIM:613662 |
Trigeminal Neuralgia |
|
CNS demyelination, Cranial nerve compression, Allodynia, Peripheral demyelination |
ORPHA:221091 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Ataxia, Cachexia, Optic atrophy, Respiratory insufficiency, Choreoa... |
ORPHA:702 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Opti... |
ORPHA:909 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic neuropathy, Optic atrophy, Distal sensory impairment, Decreased sensory nerve conduction ve... |
ORPHA:320375 |
Classic Hodgkin Lymphoma |
|
Ataxia, Anorexia, Respiratory insufficiency, Weight loss, Cough |
ORPHA:391 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:86893 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Respiratory insufficiency, Cachexia |
ORPHA:157973 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Dysphagia, Weight loss |
ORPHA:2198 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... |
OMIM:602433 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Chorea, Impaired distal vibration sensation, Impaired ... |
OMIM:606002 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Alexander Disease Type I |
|
Failure to thrive, Ataxia, Cachexia, Dysphagia |
ORPHA:363717 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Abnormality on pulmonary function testing, Abnormal ... |
ORPHA:133 |
Central Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Anorexia, Weight loss |
ORPHA:178029 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Impaired propriocep... |
ORPHA:79138 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturbance, Dystonia, Ad... |
ORPHA:512 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Reduced vital capacity, Decreased distal sensory nerve action potential, Tremor, Inability to wal... |
ORPHA:99956 |
Fatal Familial Insomnia |
|
Ataxia, Apnea, Weight loss, Abnormal autonomic nervous system physiology, Dysphagia |
OMIM:600072 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Abnormal motor nerve conduction velocity, Ano... |
ORPHA:2912 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Optic atrophy, Ataxia |
OMIM:614863 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ataxia, Cachexia, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Weight loss, Stridor, Cough |
ORPHA:142 |
Acute Myelomonocytic Leukemia |
|
Dyspnea, Weight loss |
ORPHA:517 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Gait disturbance, Difficulty ... |
ORPHA:90321 |
Scheie Syndrome |
|
Abnormal nerve conduction velocity, Rhinitis |
ORPHA:93474 |
Diencephalic Syndrome |
|
Optic atrophy, Cachexia, Decreased body weight |
ORPHA:1672 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
D-Bifunctional Protein Deficiency |
|
Decreased nerve conduction velocity, Gliosis, Cerebral dysmyelination |
OMIM:261515 |
Gerstmann-Straussler Disease |
|
Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Weight loss, Truncal ataxia |
OMIM:137440 |
Flynn-Aird Syndrome |
|
EEG abnormality, Ataxia, Cachexia |
ORPHA:2047 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Restlessness, Delayed CNS myelination, Oral-pharyngeal dysphagia, Delayed m... |
OMIM:615273 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Ataxia, Anorexia, Tachypnea, Weight loss |
ORPHA:79242 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysmetria, EEG abnormality, Decr... |
ORPHA:456312 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Ataxia, Facial palsy, Hypercapnia, Tremor, Reduced forced vital capacity, R... |
OMIM:164310 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Tremor, Unsteady gait, Optic atrophy, Dysphagia, Weight loss, Gait ... |
ORPHA:354 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory distress, Dystonia, Facial palsy, Anorexia... |
ORPHA:79139 |
Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Ataxia, Decreased nerve conduction velocity, Tremor, Gait distu... |
OMIM:214500 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia, Anorexia, Decreased body weight |
ORPHA:51890 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Cockayne Syndrome B |
|
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve con... |
OMIM:133540 |
Cockayne Syndrome A |
|
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve con... |
OMIM:216400 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Broad-based gait, Cachexia, Aggressive behavior, Tremor, Obesity, EEG abnormality |
ORPHA:85293 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Weight loss, Hypoxemia, Restrictive ven... |
ORPHA:2902 |
Choreoacanthocytosis |
|
Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude ... |
ORPHA:2388 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Pneumonia, Anorexia, Weight loss |
OMIM:209950 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:85447 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Weight loss, Hypoxem... |
ORPHA:90060 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:585 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Decreased compound muscle action potential amplitude, Bronchiectasis |
OMIM:620080 |
Takayasu Arteritis |
|
Pulmonary arterial hypertension, Abnormal pattern of respiration, Anorexia, Weight loss |
ORPHA:3287 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Optic atrophy |
OMIM:615663 |
Cockayne Syndrome |
|
Optic disc pallor, Ataxia, Cerebral dysmyelination, Cachexia, Decreased nerve conduction velocity... |
ORPHA:191 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Non-Functioning Paraganglioma |
|
Tremor, Cranial nerve compression, Weight loss |
ORPHA:94080 |
Wilson Disease |
|
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Difficulty walking, Fail... |
ORPHA:905 |
Follicular Lymphoma |
|
Pleural effusion, Weight loss |
ORPHA:545 |
Polymyositis |
|
Anorexia, Respiratory insufficiency, Weight loss, Gait disturbance, Cough, Exertional dyspnea |
ORPHA:732 |
Pseudomyxoma Peritonei |
|
Respiratory insufficiency, Weight loss |
ORPHA:26790 |
Isolated Succinate-Coq Reductase Deficiency |
|
Loss of ambulation, Ataxia, Weight loss |
ORPHA:3208 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Wilson Disease |
|
Dystonia, Decreased nerve conduction velocity, Tremor, Hand tremor, Dysphagia, Limb dystonia, Mix... |
OMIM:277900 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, EEG abnormality, Self-injurious behavior, Cachexia |
ORPHA:371364 |
Hirschsprung Disease |
|
Aganglionic megacolon, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Thymic Carcinoma |
|
Cough, Dyspnea, Weight loss |
ORPHA:99868 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Unsteady gait, Astrocytosis, Abnormality of peripheral nerve conduction, Diffi... |
ORPHA:90324 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Weight loss, Dysphagia, Slender build, Allodynia |
OMIM:603041 |
Hurler Syndrome |
|
Abnormal nerve conduction velocity, Hydrocephalus |
ORPHA:93473 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss |
OMIM:613239 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation |
ORPHA:424 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Respiratory insufficiency, Weight loss |
ORPHA:1842 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic disc pallor, Dystonia, Small for gestational age, Inability to walk, Delayed myelination, O... |
ORPHA:404454 |
Chédiak-Higashi Syndrome |
|
Ataxia, Epistaxis, Decreased nerve conduction velocity, Tremor, Inability to walk, Gait disturban... |
ORPHA:167 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Anorexia, Tachypnea, Weight loss, Agitation, Cough, Oral aversion |
ORPHA:134 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Inability to walk, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Leishmaniasis |
|
Rhinitis, Anorexia, Weight loss |
ORPHA:507 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Anorexia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Weight loss, Bronchospasm |
ORPHA:97287 |
Thyrotoxic Periodic Paralysis |
|
Tremor, Obesity, Weight loss, Respiratory paralysis, Abnormality of peripheral nerve conduction |
ORPHA:79102 |
Rhabdoid Tumor |
|
Respiratory insufficiency, Weight loss |
ORPHA:69077 |
Lymphoid Interstitial Pneumonia |
|
Crackles, Dyspnea, Wheezing, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventilatory defe... |
ORPHA:79128 |
Benign Schwannoma |
|
Facial palsy, Abnormality of the twelfth cranial nerve, Vestibular schwannoma, Abnormality of per... |
ORPHA:252164 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Ataxia, Anorexia, Tachypnea, Weight loss, Hypsarrhythmia, EEG abnormality |
ORPHA:20 |
Eosinophilic Gastroenteritis |
|
Asthma, Allergic rhinitis, Dysphagia, Weight loss |
ORPHA:2070 |
Benign Recurrent Intrahepatic Cholestasis |
|
Anorexia, Weight loss |
ORPHA:65682 |
Wild Type Attr Amyloidosis |
|
Weight loss, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Pleural... |
ORPHA:330001 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:605543 |
Aicardi-Goutieres Syndrome 9 |
|
Delayed CNS myelination, Optic atrophy, Weight loss, Dystonia, Failure to thrive, Self-mutilation |
OMIM:619487 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Asthma, Respiratory insufficiency, Dysphagia, Weight loss, Gait disturbance, Cough |
ORPHA:183 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor, Weight loss |
ORPHA:99819 |
Riddle Syndrome |
|
Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Weight loss, Restrictive ventilatory d... |
ORPHA:420741 |
Acute Promyelocytic Leukemia |
|
Epistaxis, Anorexia, Productive cough, Weight loss, Addictive alcohol use, Exertional dyspnea |
ORPHA:520 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Decreased distal sensory nerve action potential, Intercostal muscle... |
OMIM:606071 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Cachexia, Exertional dyspnea |
ORPHA:42 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Weight loss |
ORPHA:168811 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Failure to thrive, Polyphagia, Weight loss |
ORPHA:95427 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Hyperactivity, Impulsivity, Aggressive behavior, Decreased nerve conduction velocity... |
ORPHA:580 |
Acute Monoblastic/Monocytic Leukemia |
|
Exertional dyspnea, Anorexia, Weight loss |
ORPHA:514 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cough, Wheezing, Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Giant Cell Arteritis |
|
Ataxia, Epistaxis, Anorexia, Optic atrophy, Weight loss, Cough |
ORPHA:397 |
Systemic Capillary Leak Syndrome |
|
Cardiorespiratory arrest, Weight loss, Cough, Pleural effusion, Rhinorrhea |
ORPHA:188 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Respiratory insufficiency, Weight loss, Progres... |
OMIM:607459 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Failure to thrive, Recurrent pneumonia, Weight loss |
ORPHA:47 |
Glossopharyngeal Neuralgia |
|
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Oral-pharyngeal dysphagia,... |
ORPHA:221098 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Horner syndrome, Weight loss |
OMIM:256700 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Majeed Syndrome |
|
Cough, Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Weight loss |
ORPHA:3226 |
Al Amyloidosis |
|
Dyspnea, Nonproductive cough, Weight loss, Abnormal autonomic nervous system physiology, Dysphagi... |
ORPHA:85443 |
Whipple Disease |
|
Ataxia, Cachexia, Anorexia, Respiratory insufficiency, Cough, Polydipsia |
ORPHA:3452 |
Cronkhite-Canada Syndrome |
|
Cachexia, Anorexia |
ORPHA:2930 |
Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal myelination, Truncal ataxia, Astrocytosis, Dysdiadochokinesis, Gait disturbance, Difficu... |
ORPHA:309854 |
Thymoma |
|
Cough, Dyspnea, Demyelinating peripheral neuropathy, Weight loss |
ORPHA:99867 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Loeffler Endocarditis |
|
Cough, Dyspnea, Weight loss |
ORPHA:75566 |
Medullary Thyroid Carcinoma |
|
Dysphagia, Weight loss |
ORPHA:1332 |
Neuroendocrine Tumor Of The Colon |
|
Bronchospasm, Anorexia, Weight loss |
ORPHA:100080 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia |
ORPHA:1438 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology, Allodynia |
ORPHA:137596 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Orthostatic hypotension due to autonomic dysfunction, Impulsivity, Di... |
ORPHA:642 |
Yao Syndrome |
|
Asthma, Weight loss |
OMIM:617321 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Cranial nerve compression, Weight loss |
ORPHA:276621 |
Ménétrier Disease |
|
Anorexia, Weight loss |
ORPHA:2494 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Anorexia, Weight loss |
ORPHA:370348 |
Laryngotracheoesophageal Cleft Type 4 |
|
Respiratory insufficiency, Cachexia |
ORPHA:93941 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Aggressive Systemic Mastocytosis |
|
Anorexia, Weight loss |
ORPHA:98850 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Neuroendocrine Tumor Of The Rectum |
|
Bronchospasm, Anorexia, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Bronchospasm, Anorexia, Weight loss |
ORPHA:100082 |
Thymic Neuroendocrine Tumor |
|
Cough, Abnormal breath sound, Weight loss |
ORPHA:97289 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Igg4-Related Aortitis |
|
Asthma, Weight loss |
ORPHA:449400 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspnea, Dysphagia, Weight loss, Aspiration pneumonia, Cough, Failure to thrive |
ORPHA:1018 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Dyspnea, Bronchospasm, Anorexia, Weight loss |
ORPHA:100085 |
Felty Syndrome |
|
Rhinitis, Sinusitis, Recurrent pneumonia, Weight loss |
ORPHA:47612 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Ataxia, Optic atrophy, Demyelinating peripheral neuropathy |
ORPHA:220295 |
Erdheim-Chester Disease |
|
Ataxia, Dyspnea, Weight loss, Pleural effusion, Cough, Polydipsia |
ORPHA:35687 |
Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Abnormality of peripheral nerve conduction |
OMIM:601992 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Poems Syndrome |
|
Papilledema, Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventilato... |
ORPHA:2905 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Congenital Tufting Enteropathy |
|
Optic disc coloboma, Failure to thrive, Weight loss |
ORPHA:92050 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Cough, Dyspnea, Interstitial pneumonitis, Weight loss |
ORPHA:139402 |
Amoebiasis Due To Entamoeba Histolytica |
|
Dyspnea, Weight loss, Pleural empyema, Cough, Pleural effusion |
ORPHA:67 |
Lynch Syndrome |
|
Gait disturbance, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:144 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Dysphagia, Weight loss, Restrictive ventilatory defect, Cough, Polydipsia |
ORPHA:537 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:251071 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Cranial nerve compression, Weight loss |
ORPHA:29072 |
Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Failure to thrive, Anorexia, Weight loss |
ORPHA:199299 |
Primary Myelofibrosis |
|
Cachexia, Anorexia |
ORPHA:824 |
Juvenile Dermatomyositis |
|
Dyspnea, Dysphagia, Weight loss, Restrictive ventilatory defect, Cough |
ORPHA:93672 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Weight loss |
OMIM:212750 |
Familial Colorectal Cancer Type X |
|
Gait disturbance, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:440437 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Anorexia, Weight loss |
ORPHA:37 |
Carney-Stratakis Syndrome |
|
Dysphagia, Weight loss |
ORPHA:97286 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Anorexia, Weight loss |
ORPHA:361 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Dysphagia, Weight loss, Hypoxemia,... |
ORPHA:2020 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anorexia |
OMIM:175500 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Stevens-Johnson Syndrome |
|
Dyspnea, Dysphagia, Weight loss, Restrictive ventilatory defect, Cough |
ORPHA:36426 |
Q Fever |
|
Respiratory distress, Pneumonia, Anorexia, Weight loss, Cough, Pleural effusion |
ORPHA:781 |
Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Salt craving, Anorexia, Weight loss, Failure to thrive |
ORPHA:95409 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Polycythemia Vera |
|
Pulmonary embolism, Epistaxis, Respiratory insufficiency, Weight loss |
ORPHA:729 |
Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Optic neuropathy, Dyspnea, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventilat... |
OMIM:181000 |
Monosomy 18Q |
|
Choreoathetosis, Failure to thrive, Slender build, Abnormal myelination |
ORPHA:1600 |
Hypermobile Ehlers-Danlos Syndrome |
|
Decreased nerve conduction velocity, Paresthesia |
ORPHA:285 |
Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... |
ORPHA:31204 |
Osteootohepatoenteric Syndrome |
|
Asthma, Failure to thrive, Weight loss |
OMIM:619377 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Respiratory insufficiency, Weight loss, Cough, Rhinorrhea |
OMIM:608710 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Neuroendocrine Tumor Of Stomach |
|
Bronchospasm, Anorexia, Weight loss |
ORPHA:100075 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
Primary Intestinal Lymphangiectasia |
|
Pleural effusion, Weight loss |
ORPHA:90362 |
Alveolar Echinococcosis |
|
Cough, Dyspnea, Ataxia, Weight loss |
ORPHA:284 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Hermansky-Pudlak Syndrome |
|
Dyspnea, Epistaxis, Anorexia, Weight loss |
ORPHA:79430 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Weight loss |
ORPHA:465508 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
Cystic Echinococcosis |
|
Asthma, Weight loss |
ORPHA:400 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Respiratory failure, Weight loss |
ORPHA:679 |
Mucolipidosis Type Ii |
|
Respiratory failure requiring assisted ventilation, Inability to walk, Weight loss, Stridor, Rest... |
ORPHA:576 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
Schwartz-Jampel Syndrome |
|
Apnea, Cachexia, Respiratory insufficiency, Blepharospasm, Gait disturbance, Attention deficit hy... |
ORPHA:800 |
Aicardi-Goutieres Syndrome 7 |
|
Delayed myelination, Weight loss, Pneumonia, Dystonia |
OMIM:615846 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:71273 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Weight loss |
ORPHA:100086 |
Addison Disease |
|
Orthostatic hypotension, Salt craving, Anorexia, Weight loss, Failure to thrive |
ORPHA:85138 |
Camurati-Engelmann Disease |
|
Waddling gait, Ataxia, Facial palsy, Cachexia, Anorexia, Optic atrophy, Optic nerve compression, ... |
ORPHA:1328 |
Behçet Disease |
|
Ataxia, Anorexia, Pulmonary embolism, Weight loss, Gait disturbance, Pleural effusion |
ORPHA:117 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Castleman Disease |
|
Cough, Dyspnea, Weight loss |
ORPHA:160 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss |
ORPHA:85450 |
Insulin-Resistance Syndrome Type B |
|
Pneumonia, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight |
ORPHA:2298 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Optic atrophy, Cachexia |
OMIM:610965 |
Microsporidiosis |
|
Sinusitis, Pneumonia, Anorexia, Cachexia, Weight loss, Rhinitis |
ORPHA:2552 |
Caroli Disease |
|
Anorexia, Weight loss |
ORPHA:53035 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Familial Pancreatic Carcinoma |
|
Anorexia, Weight loss |
ORPHA:1333 |
Igg4-Related Retroperitoneal Fibrosis |
|
Anorexia, Weight loss |
ORPHA:49041 |
Brucellosis |
|
Small for gestational age, Pneumonia, Anorexia, Abnormality of the peripheral nervous system, Wei... |
ORPHA:1304 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Epistaxis, Chronic pulmonary obstruction, Respiratory insufficiency, Weight loss, Rest... |
ORPHA:900 |
Lysosomal Acid Lipase Deficiency |
|
Pulmonary arterial hypertension, Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
Familial Thrombocytosis |
|
Pulmonary arterial hypertension, Weight loss |
ORPHA:71493 |
African Trypanosomiasis |
|
Papilledema, Akinesia, Aggressive behavior, Tremor, Weight loss, Choreoathetosis, Gait disturbanc... |
ORPHA:3385 |
Chronic Graft Versus Host Disease |
|
Anorexia, Dyspnea, Wheezing, Pneumothorax, Bronchiectasis, Dysphagia, Weight loss, Cough, Pleural... |
ORPHA:99921 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Failure to thrive in infancy, Pneumonia, Cachexia, Interstitial pneumonitis |
ORPHA:37042 |
Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ataxia, Weight loss |
ORPHA:99885 |
Postinfectious Vasculitis |
|
Abnormality of the peripheral nervous system, Pneumonia, Anorexia, Weight loss |
ORPHA:48435 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Spontaneous, recurrent epistaxis, Broad-based gait, Cachexia, Limb ataxia, Abnormal ... |
ORPHA:2072 |
Immunodeficiency 31C |
|
Cough, Bronchiectasis, Weight loss |
OMIM:614162 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Polydipsia |
OMIM:219800 |
Parathyroid Carcinoma |
|
Polydipsia, Dysphagia, Weight loss |
ORPHA:143 |
Vipoma |
|
Respiratory insufficiency due to muscle weakness, Anorexia, Weight loss |
ORPHA:97282 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Anorexia |
ORPHA:1969 |
Kikuchi-Fujimoto Disease |
|
Pleural effusion, Ataxia, Anorexia, Weight loss |
ORPHA:50918 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
Ppoma |
|
Anorexia, Weight loss |
ORPHA:97278 |
Reactive Arthritis |
|
Respiratory insufficiency, Weight loss |
ORPHA:29207 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Weight loss |
ORPHA:91347 |
Degcags Syndrome |
|
Abnormal myelination, Small for gestational age, Pneumonia, Oral-pharyngeal dysphagia, Asthma, Rh... |
OMIM:619488 |
Nijmegen Breakage Syndrome |
|
Attention deficit hyperactivity disorder, Recurrent pneumonia, Cachexia, Respiratory failure |
ORPHA:647 |
Multiple Myeloma |
|
Pleural effusion, Weight loss |
ORPHA:29073 |
Somatostatinoma |
|
Anorexia, Weight loss |
ORPHA:97283 |
Grfoma |
|
Anorexia, Weight loss |
ORPHA:97261 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
Norrie Disease |
|
Cachexia, Optic atrophy, EEG abnormality, Self-injurious behavior, Attention deficit hyperactivit... |
ORPHA:649 |
Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
Glucagonoma |
|
Anorexia, Weight loss |
ORPHA:97280 |
Primary Sclerosing Cholangitis |
|
Pleural effusion, Weight loss |
ORPHA:171 |
Hutchinson-Gilford Progeria Syndrome |
|
Upper airway obstruction, Weight loss, Shuffling gait, Severe failure to thrive, Pulmonary arteri... |
ORPHA:740 |
Fanconi Anemia |
|
Aganglionic megacolon, Weight loss |
ORPHA:84 |
Sarcoidosis |
|
Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Upper airway obstruction, Weight loss, Pleur... |
ORPHA:797 |
Dermatomyositis |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Weight loss |
ORPHA:221 |
Marfan Syndrome |
|
Spontaneous pneumothorax, Cachexia, Attention deficit hyperactivity disorder, Emphysema, Slender ... |
ORPHA:558 |
Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough, Exertion... |
OMIM:233450 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
Multiple Endocrine Neoplasia Type 1 |
|
Cranial nerve compression, Anorexia, Weight loss |
ORPHA:652 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Pyomyositis |
|
Weight loss |
ORPHA:764 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Immunodeficiency 82 With Systemic Inflammation |
|
Pneumonia, Bronchiectasis, Anorexia, Weight loss |
OMIM:619381 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Weight loss |
ORPHA:79078 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypocapnia, Failure to thrive, Weight loss |
ORPHA:90794 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Anorexia, Weight loss |
ORPHA:91500 |
Igg4-Related Kidney Disease |
|
Interstitial pneumonitis, Chronic sinusitis, Weight loss |
ORPHA:449395 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
Juvenile Polyposis Of Infancy |
|
Cachexia |
ORPHA:79076 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Anorexia, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity |
ORPHA:99889 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Stickler Syndrome |
|
Slender build, Cachexia |
ORPHA:828 |
Orofaciodigital Syndrome Type 14 |
|
Partial agenesis of the corpus callosum, Abnormal myelination |
ORPHA:434179 |
Tropical Endomyocardial Fibrosis |
|
Orthopnea, Dyspnea, Pulmonary venous hypertension, Cachexia |
ORPHA:75565 |
Proteus Syndrome |
|
Cachexia, Pulmonary embolism |
ORPHA:744 |