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Gene: Prx MGI:108176

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
periaxin
Synonyms:
L-Periaxin

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Prx mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:614895
Hypertrophic Neuropathy Of Dejerine-Sottas
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Dist... OMIM:145900

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
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