Registered for phenotyping at IMPC

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

Gene Summary

Name:
periaxin
Synonyms:
L-Periaxin

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:614895
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:145900

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

Disease Similarity of
phenotypes
Matching phenotypes Source
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