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Gene: Bace1 MGI:1346542

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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:
beta-site APP cleaving enzyme 1
Synonyms:
N/A

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 Bace1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Bace1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation, Foot dorsiflexor weakness, Distal sensory impairment OMIM:616039
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait... OMIM:620378
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination, Thenar muscle... OMIM:606483
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Hand muscle weakness, Decreased nerve conduction velocity, Segmental... ORPHA:2932
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, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Upper limb mus... OMIM:607677
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Distal lower limb amyotrophy, Impaired vibratory sensation, Impaired pain sensation, Distal senso... OMIM:615185
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a... OMIM:601098
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Distal amyotro... OMIM:607731
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118210
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Upper limb muscle we... OMIM:607791
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Lower limb muscle weakness, Angulated muscle fibers, Decreased number of large peripheral myelina... OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle atrophy, Peripheral axonal neuropathy, Hand muscle weakness, Distal sensory impairmen... OMIM:616280
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Distal lower limb mu... ORPHA:98916
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased compound muscle action p... OMIM:618279
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Skeletal muscle atrophy, Hand muscle weakness, Impaired distal pr... ORPHA:101097
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio... OMIM:610100
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607734
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Distal sensory... ORPHA:99944
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118200
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... OMIM:214400
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Ankle flexion contracture, Decreased nerve conduction ... OMIM:611228
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Peripheral axonal neurop... ORPHA:99953
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:180800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118220
Schizophrenia 15
Hyperactivity OMIM:613950
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, CNS hypomyelinatio... ORPHA:280234
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:605588
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... ORPHA:497764
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 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Dista... OMIM:608673
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Hand muscle weakness, Segmental peripheral demyelinati... OMIM:162500
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Dista... OMIM:311070
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased number of pe... OMIM:607706
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Demyelinating motor neuropathy, Motor conduction block... ORPHA:206594
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Distal sensory impairment, Distal amyotrophy, Steppage gait, Pe... OMIM:607736
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology, Peripheral demyelination, Leukodystrophy DECIPHER:59
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large... OMIM:615376
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Ataxia, Axonal loss, Difficulty walking, Peripheral demyelination OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Hand muscle atrophy, Decreased distal sensory nerve ac... OMIM:607684
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... ORPHA:98856
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:618184
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Dec... OMIM:605285
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:604563
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Distal amyotrophy, Demyelinating sensory neuropathy, Onion bulb f... OMIM:182815
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Tibialis anterior muscle atrophy, Lower limb muscle weakness, Impai... OMIM:615035
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Periphe... OMIM:605253
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Short stature, Decreased body weight OMIM:616311
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609260
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607250
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:600882
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Gait ataxia, Loss of ambulation, CNS demyelination, Peripher... OMIM:249900
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Lower limb muscle weakness, Decreased nerve conduction velocity, Distal ... OMIM:615284
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception ORPHA:231445
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Hand tremor, Gait ataxia, Depression, Gait di... ORPHA:98764
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remy... OMIM:601455
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:607080
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal lower limb amyotrophy, Claw hand deformity, Distal sensory impairment, Axonal loss, Distal... OMIM:614455
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Gait ataxi... ORPHA:101111
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Decreased sensory nerve conduction velocity, Flexion contracture of fing... OMIM:609033
Charcot-Marie-Tooth Disease Type 4A
Hand muscle weakness, Decreased number of large peripheral myelinated nerve fibers, Quadriceps mu... ORPHA:99948
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal sensory impairment, Ac... ORPHA:101081
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Distal sensory impairment, Facial diplegia, Distal amyotrophy, Distal arthro... OMIM:616287
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Decreased number of large peripheral myelinated nerve fibers, Decre... ORPHA:90103
Manganese Poisoning
Postural tremor, Confusion, Akinesia, Aggressive behavior, Hypersexuality, Depression, Emotional ... ORPHA:306682
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased number of pe... OMIM:302800
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Peroxisome Biogenesis Disorder 8B
Ataxia, Dysesthesia, Unsteady gait, Optic atrophy, Dysmetria, Gait ataxia, Tip-toe gait, Leukodys... OMIM:614877
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Peripheral axonal neuropathy, Somatic sensory dysfunction, Decreased ner... ORPHA:101082
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Acute rhabdomy... OMIM:604168
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Tip-toe gait ORPHA:2386
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Distal sensory impai... OMIM:604484
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Absent brainstem auditory responses, Hand muscle we... ORPHA:101085
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Inability to walk, Chorea, Axonal loss, Peripheral demyelination OMIM:617672
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... OMIM:309548
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, Pe... OMIM:270550
Intellectual Developmental Disorder, X-Linked 72
Abnormal repetitive mannerisms, Hyperactivity, Short stature OMIM:300271
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Fraxe Intellectual Disability
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... ORPHA:100973
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:615490
Spinocerebellar Ataxia 48
Irritability, Cachexia, Dysphagia, Depression OMIM:618093
Trigeminal Neuralgia
Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, CNS demyelination, Periphera... ORPHA:221091
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
Spinocerebellar Ataxia 21
Postural tremor, Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Pr... OMIM:607454
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Distal amyotrophy, Ti... ORPHA:397946
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Chronic Hiccup
Depression, Weight loss, Abnormal eating behavior ORPHA:396
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Mantle Cell Lymphoma
Anorexia, Weight loss ORPHA:52416
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Unsteady gait, Neuromuscular dysphagia, Blepharospasm, Dement... ORPHA:240094
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Lower limb muscle weakness, Dysmetria, Distal amyotrophy, Dysdiadochokine... OMIM:614487
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Acroparesthesia, Somatic sensory dysfunction, Ata... ORPHA:206448
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Ataxia, Thenar m... OMIM:604360
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Distal amyotrophy, Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neur... ORPHA:2821
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Perry Syndrome
Akinesia, Tremor, Frontotemporal dementia, Depression, Inappropriate behavior, Disinhibition, Dys... OMIM:168605
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Peripheral demyelination ORPHA:71211
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment ORPHA:98773
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Ataxia, Decreased number of large peripheral myelinated nerve fib... OMIM:208920
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Hyperactivity, Short stature ORPHA:85288
Tangier Disease
Peripheral axonal neuropathy, Impaired temperature sensation, Impaired pain sensation, Facial dip... OMIM:205400
Corticobasal Syndrome
Limb dystonia, Akinesia, Tremor, Dementia, Gait disturbance, Dystonia, Memory impairment ORPHA:454887
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Aggressive behavior, Tremor, Dementia, Dystonia, Mental deterioration OMIM:300894
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Autonomic bladder dysfunction, Leukodystrophy, Autono... OMIM:169500
Hereditary Central Diabetes Insipidus
Growth delay, Irritability, Polydipsia, Weight loss ORPHA:30925
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Lower limb amyotrophy, CNS... OMIM:610532
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Chorea, Optic atrophy, Gait disturbance, Peripheral ... OMIM:250100
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Ataxia, Impaired pain sensation, Abolishe... OMIM:608703
Alexander Disease Type I
Failure to thrive, Cachexia, Dysphagia ORPHA:363717
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intrauterine growth retardation, Hyperactivity, Obesity, Aggressive behavior OMIM:620270
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
Krabbe Disease
Decreased nerve conduction velocity, CNS demyelination, Optic atrophy, Peripheral demyelination OMIM:245200
Hartnup Disorder
Emotional lability, Hyperactivity, Short stature, Attention deficit hyperactivity disorder OMIM:234500
Progressive Supranuclear Palsy
Impulsivity, Tremor, Unsteady gait, Dysphagia, Abnormal synaptic transmission, Blepharospasm, Dep... ORPHA:683
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Blepharospasm, Social and... ORPHA:240071
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired distal proprioceptio... OMIM:162400
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Distal sensory impairment, ... OMIM:256850
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... ORPHA:3077
Christianson Syndrome
Abnormal repetitive mannerisms, Inappropriate laughter, Cachexia, Dysphagia ORPHA:85278
Pulmonary Blastoma
Weight loss ORPHA:64741
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Hand muscle weakness, Limb-girdle muscle weakness, Upper limb mu... ORPHA:466768
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Peripheral demyelination OMIM:616733
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Gait disturbance, Peripheral demyelination OMIM:221770
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, D... OMIM:271245
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... ORPHA:309246
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Dysp... ORPHA:247234
Tuberculosis
Weight loss ORPHA:3389
Riboflavin Transporter Deficiency
Cachexia, Dysphagia, Aggressive behavior ORPHA:97229
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona... ORPHA:254930
Hereditary Late-Onset Parkinson Disease
Resting tremor, Akinesia, Impulsivity, Dysphagia, Depression, Dementia, Agitation, Shuffling gait... ORPHA:411602
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Akinesia, Aggressive behavior, Tremor, Dysphagia, Dementia, Gait disturbance... OMIM:606693
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Cerebral dysmyel... OMIM:609136
X-Linked Creatine Transporter Deficiency
Hyperactivity, Short stature, Self-mutilation, Cachexia ORPHA:52503
Mcdonough Syndrome
Short stature, Cachexia ORPHA:2471
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... OMIM:218000
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Failure to thrive, Abnormal repeti... OMIM:609425
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Laryngeal Neuroendocrine Tumor
Weight loss, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Akinesia, Dementia, Limb dystonia, Mental deterioration OMIM:616840
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Hyperactivity, Failure to thrive OMIM:274270
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short stature, Cachexia, Self-injurious behavior, Severe failure to thrive, Intrauterine growth r... ORPHA:371364
Central Diabetes Insipidus
Anorexia, Weight loss, Depression, Polydipsia, Failure to thrive ORPHA:178029
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Intrauterine growth retardation, Failure to thrive in infancy, Cachexia OMIM:616801
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Abnormal peripheral myelination, Steppage gait, Abnormal peripheral nerv... ORPHA:168563
Morm Syndrome
Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
Renpenning Syndrome
Growth delay, Severe short stature, Cachexia ORPHA:3242
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Supranuclear Palsy, Progressive, 2
Axial dystonia, Postural tremor, Akinesia, Irritability, Falls, Gait imbalance, Retrocollis, Dysp... OMIM:609454
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Cachexia ORPHA:1933
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Abnormality of the musculature of the lower limbs, Ataxia, Delayed peripheral myel... ORPHA:464282
Juvenile Huntington Disease
Irritability, Hyperactivity, Weight loss, Depression ORPHA:248111
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Depression, Weight loss, Irritability, Addictive ... ORPHA:399
Rett Syndrome
Cachexia, Short stature, Stereotypical hand wringing, Bruxism OMIM:312750
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Ataxia OMIM:614116
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness, Fatigable weakness of neck muscles, Cachexia ORPHA:42
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Lower limb muscle weakness, Optic neuropathy, Tibialis muscle weakness, ... ORPHA:320375
Huntington Disease-Like 2
Irritability, Weight loss, Depression OMIM:606438
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... ORPHA:99949
Hereditary Sensory And Autonomic Neuropathy Type 5
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P... ORPHA:64752
Mitochondrial Neurogastrointestinal Encephalomyopathy
Weight loss, Cachexia, Dysphagia ORPHA:298
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Supranuclear Palsy, Progressive, 1
Axial dystonia, Akinesia, Tremor, Dysphagia, Irritability, Falls, Gait imbalance, Retrocollis, Li... OMIM:601104
Cronkhite-Canada Syndrome
Cachexia, Anorexia ORPHA:2930
Tetrasomy 12P
Short stature, Cachexia ORPHA:884
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Weight loss OMIM:275000
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Tremor, Phonic tics, Depression, Blepharospasm, Choreoathetosis,... OMIM:234200
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine g... OMIM:608747
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Hand mu... ORPHA:99956
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Postnatal growth retardation, Dysphoria, Depression, Attentio... OMIM:620242
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Dysmetria, Lower limb hypertonia, Dysdiadochokinesis, Difficulty walking, Peripher... ORPHA:171629
East Syndrome
Peripheral axonal neuropathy, Ataxia, Inability to walk, Peripheral hypomyelination, Difficulty w... ORPHA:199343
Wolman Disease
Growth delay, Cachexia ORPHA:75233
Aceruloplasminemia
Torticollis, Ataxia, Akinesia, Tremor, Limb ataxia, Gait ataxia, Blepharospasm, Cognitive impairm... ORPHA:48818
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Aredyld Syndrome
Intrauterine growth retardation, Short stature, Cachexia ORPHA:1133
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Failure to thrive, Short stature, Aggressive behavior OMIM:615286
Multiple Sulfatase Deficiency
CNS demyelination, Ataxia, Peripheral demyelination OMIM:272200
Atypical Juvenile Parkinsonism
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... ORPHA:391411
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Akinesia, Depression, Dysphagia, Tremor by anatomical site, Ab... ORPHA:97349
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Short stature, Small for gestational age, Failure to thrive in infancy, Birth leng... OMIM:614104
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Short stature, Cachexia, Aggressive behavior, Obesity ORPHA:85293
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Cachexia OMIM:618186
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia ORPHA:702
Intellectual Developmental Disorder, Autosomal Recessive 39
Abnormal repetitive mannerisms, Hyperactivity, Short stature, Aggressive behavior OMIM:615541
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response, Irritability, Short attention span OMIM:617864
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Dysphagia ORPHA:2198
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Huntington Disease-Like 2
Weight loss ORPHA:98934
Silver-Russell Syndrome
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Obesity, Int... ORPHA:813
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait OMIM:619911
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Parkinson Disease 17
Tremor, Resting tremor, Akinesia OMIM:614203
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Intrauterine growth retardation, Hyperactivity, Failure to thrive, Aggressive behavior ORPHA:369939
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Short stature, Small for gestational age, Postnatal growth retardation, Severe pos... ORPHA:73272
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Unsteady gait, Knee flexion contracture, Wrist flexion contr... OMIM:618733
19Q13.11 Microdeletion Syndrome
Growth delay, Intrauterine growth retardation, Failure to thrive, Cachexia ORPHA:217346
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Isaacs Syndrome
Weight loss ORPHA:84142
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci... OMIM:201300
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia OMIM:175500
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Oculopharyngodistal Myopathy
Fatigable weakness of bulbar muscles, Weight loss, Impaired oropharyngeal swallow response, Oral-... ORPHA:98897
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Perry Syndrome
Weight loss, Depression ORPHA:178509
Whipple Disease
Cachexia, Polydipsia, Anorexia, Depression ORPHA:3452
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Depress... ORPHA:845
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Attention deficit hyperactivity d... OMIM:620141
Glutaric Acidemia I
Choreoathetosis, Symmetrical progressive peripheral demyelination, Delayed myelination OMIM:231670
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Short stature, Anorexia ORPHA:1969
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Dysphagia ORPHA:300605
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Ragged-red muscle fibers, Optic... ORPHA:255210
Infantile Krabbe Disease
Irritability, Failure to thrive, Cachexia ORPHA:206436
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Holocarboxylase Synthetase Deficiency
Growth delay, Irritability, Anorexia, Weight loss ORPHA:79242
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Peho Syndrome
Optic atrophy, Peripheral dysmyelination OMIM:260565
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Dystonia ORPHA:438216
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased nerve conduct... ORPHA:477817
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Ataxia OMIM:616881
Hirschsprung Disease
Short stature, Failure to thrive in infancy, Weight loss ORPHA:388
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Oromandibular Dystonia
Weight loss, Bruxism, Dysphagia, Depression ORPHA:93958
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Peripheral demyelination, Ataxia, Severe demyelination of the white matter ORPHA:79282
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren... OMIM:617600
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Weight loss, Slender build, Cachexia, Dysphagia OMIM:603041
Xfe Progeroid Syndrome
Failure to thrive, Severe short stature, Cachexia OMIM:610965
Seckel Syndrome
Intrauterine growth retardation, Short stature, Cachexia ORPHA:808
13Q12.3 Microdeletion Syndrome
Hyperactivity, Short stature, Obesity, Intrauterine growth retardation, Failure to thrive, Self-m... ORPHA:412035
Gaucher Disease, Perinatal Lethal
Progressive neurologic deterioration, Dysphagia, Akinesia, Opisthotonus OMIM:608013
Erythrokeratodermia Variabilis
Short stature, Weight loss ORPHA:317
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Proportionate short stature, Weight loss, Irritability, Intrauterine growth... ORPHA:3208
Thymic Carcinoma
Fatigable weakness, Weight loss ORPHA:99868
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Agitation, Weight loss ORPHA:424
Wilson Disease
Aggressive behavior, Hypersexuality, Increased body weight, Depression, Weight loss, Failure to t... ORPHA:905
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Attention deficit hyperactivity disorder, Dysphagia ORPHA:216866
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Focal Myositis
Weight loss ORPHA:48918
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Weight loss ORPHA:65682
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination ORPHA:352682
Huntington Disease-Like 1
Restlessness, Weight loss, Depression ORPHA:157941
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Peripheral demyelination OMIM:252160
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Broad-based gait, Ataxia, Delayed myelination, Neurofibroma, Tip-toe gait, Falls, Le... OMIM:619475
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Classic Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:391
Molybdenum Cofactor Deficiency, Complementation Group A
Axonal loss, Peripheral demyelination OMIM:252150
Rhabdoid Tumor
Irritability, Weight loss ORPHA:69077
Schwartz-Jampel Syndrome
Short stature, Cachexia, Irritability, Attention deficit hyperactivity disorder, Decreased body w... ORPHA:800
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Sandhoff Disease
Progressive psychomotor deterioration, Exaggerated startle response, Ataxia OMIM:268800
Stiff-Person Syndrome
Depression, Exaggerated startle response, Opisthotonus OMIM:184850
Trisomy 18
Growth delay, Intrauterine growth retardation, Short stature, Cachexia ORPHA:3380
Immunodeficiency 27A
Anorexia, Weight loss OMIM:209950
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Follicular Lymphoma
Weight loss ORPHA:545
Gerstmann-Straussler Disease
Emotional lability, Weight loss, Aggressive behavior, Depression OMIM:137440
Mast Cell Sarcoma
Weight loss ORPHA:66661
Nijmegen Breakage Syndrome
Cachexia, Short stature, Attention deficit hyperactivity disorder ORPHA:647
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Weight loss ORPHA:99819
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Cachexia ORPHA:109
Congenital Myopathy 9A
Akinesia OMIM:618822
Bone Dysplasia, Lethal Holmgren Type
Severe short-limb dwarfism, Failure to thrive, Rhizomelia, Weight loss ORPHA:1842
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Pain insensitivi... OMIM:256810
Pfapa Syndrome
Weight loss ORPHA:42642
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity, Postural hypote... OMIM:256800
Leishmaniasis
Anorexia, Weight loss ORPHA:507
Takayasu Arteritis
Anorexia, Weight loss ORPHA:3287
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Dysdiadochokinesis, Peripheral hypomyelination, Ataxia, Chronic axonal neuropathy OMIM:612780
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ataxia, Dysmetria, Truncal ataxia, Left ventricular hypertrophy, CNS demyelination, Peripheral de... OMIM:220111
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Secondary Short Bowel Syndrome
Growth delay, Failure to thrive, Polyphagia, Weight loss ORPHA:95427
Cockayne Syndrome A
Hip contracture, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, De... OMIM:216400
Medullary Thyroid Carcinoma
Weight loss, Dysphagia ORPHA:1332
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Anaplastic Thyroid Carcinoma
Weight loss, Dysphagia ORPHA:142
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Acrodermatitis Enteropathica
Short stature, Anorexia, Weight loss, Emotional lability, Failure to thrive ORPHA:37
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment, Dysphagia OMIM:617527
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss ORPHA:1302
Fatal Familial Insomnia
Weight loss, Dysphagia OMIM:600072
Microsporidiosis
Cachexia, Anorexia, Weight loss ORPHA:2552
Camurati-Engelmann Disease
Cachexia, Slender build, Anorexia, Delayed puberty ORPHA:1328
8P23.1 Microdeletion Syndrome
Short stature, Obesity, Weight loss, Growth delay, Attention deficit hyperactivity disorder, Intr... ORPHA:251071
Liposarcoma
Weight loss ORPHA:69078
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Dpagt1-Cdg
Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Head-banging, Stereotypical bod... ORPHA:86309
Juvenile Polyposis Of Infancy
Short stature, Cachexia ORPHA:79076
Cap Polyposis
Weight loss ORPHA:160148
Bullous Pemphigoid
Weight loss ORPHA:703
Celiac Disease, Susceptibility To, 1
Short stature, Postnatal growth retardation, Depression, Weight loss, Delayed puberty, Failure to... OMIM:212750
Carney-Stratakis Syndrome
Weight loss, Dysphagia ORPHA:97286
Congenital Myopathy 12
Akinesia OMIM:612540
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Growth delay, Cachexia, Abnormal temper tantrums, Delayed puberty ORPHA:2072
Cockayne Syndrome B
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve con... OMIM:133540
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Ménétrier Disease
Anorexia, Weight loss ORPHA:2494
Acute Monoblastic/Monocytic Leukemia
Anorexia, Weight loss ORPHA:514
Norrie Disease
Cachexia, Irritability, Self-injurious behavior, Attention deficit hyperactivity disorder, Delaye... ORPHA:649
Osteosarcoma
Weight loss ORPHA:668
Marfan Syndrome
Cachexia, Slender build, Attention deficit hyperactivity disorder ORPHA:558
Eosinophilic Gastroenteritis
Weight loss, Dysphagia ORPHA:2070
Histidinemia
Hyperactivity ORPHA:2157
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Cockayne Syndrome
Severe short stature, Cachexia, Postnatal growth retardation, Growth delay, Delayed puberty ORPHA:191
Glossopharyngeal Neuralgia
Depression, Weight loss, Oral-pharyngeal dysphagia ORPHA:221098
X-Linked Agammaglobulinemia
Failure to thrive, Short stature, Weight loss ORPHA:47
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Weight loss ORPHA:171876
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination ORPHA:289266
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Pemphigus Vulgaris
Weight loss ORPHA:704
Congenital Tufting Enteropathy
Irritability, Failure to thrive, Weight loss ORPHA:92050
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia OMIM:619147
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Chronic Beryllium Disease
Weight loss ORPHA:133
Aicardi-Goutieres Syndrome 9
Weight loss, Irritability, Intrauterine growth retardation, Failure to thrive, Self-mutilation OMIM:619487
Lynch Syndrome
Irritability, Weight loss, Attention deficit hyperactivity disorder, Depression ORPHA:144
Gm1 Gangliosidosis
Short stature, Weight loss, Dysphagia, Oral aversion, Failure to thrive ORPHA:354
African Trypanosomiasis
Akinesia, Aggressive behavior, Tremor, Choreoathetosis, Irritability, Gait disturbance, Difficult... ORPHA:3385
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Argininemia
Postnatal growth retardation, Irritability, Hyperactivity, Anorexia OMIM:207800
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Arthrogryposis Multiplex Congenita 5
Akinesia, Hand tremor, Dystonia OMIM:618947
Neuroendocrine Tumor Of The Colon
Anorexia, Weight loss ORPHA:100080
Nephroblastoma
Weight loss ORPHA:654
Kaposi Sarcoma
Weight loss ORPHA:33276
Aggressive Systemic Mastocytosis
Anorexia, Weight loss ORPHA:98850
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response OMIM:615574
Beta-Ketothiolase Deficiency
Oral aversion, Agitation, Anorexia, Weight loss ORPHA:134
Polyarteritis Nodosa
Weight loss ORPHA:767
Familial Colorectal Cancer Type X
Irritability, Weight loss, Attention deficit hyperactivity disorder, Depression ORPHA:440437
Acute Promyelocytic Leukemia
Addictive alcohol use, Anorexia, Weight loss ORPHA:520
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Polymyositis
Anorexia, Weight loss ORPHA:732
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Impaired vibratory sensation, Peripheral ... ORPHA:2388
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Stickler Syndrome
Slender build, Short stature, Cachexia ORPHA:828
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Yao Syndrome
Weight loss OMIM:617321
Adrenocortical Carcinoma
Irritability, Increased body weight, Weight loss ORPHA:1501
Neuroendocrine Tumor Of The Rectum
Anorexia, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Weight loss ORPHA:100082
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Bohring-Opitz Syndrome
Flexion contracture, Delayed peripheral myelination, Camptodactyly OMIM:605039
Rheumatoid Arthritis
Weight loss OMIM:180300
Bronchial Neuroendocrine Tumor
Anorexia, Weight loss ORPHA:97287
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Familial Glucocorticoid Deficiency
Failure to thrive, Anorexia, Weight loss ORPHA:361
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormal myelination ORPHA:442835
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Short Syndrome
Severe short stature, Weight loss ORPHA:3163
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia ORPHA:521426
Giant Cell Arteritis
Weight loss, Anorexia, Depression ORPHA:397
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Peripheral Primitive Neuroectodermal Tumor
Anorexia, Weight loss ORPHA:370348
Gallbladder Neuroendocrine Tumor
Anorexia, Weight loss ORPHA:100086
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Igg4-Related Aortitis
Weight loss ORPHA:449400
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Loeffler Endocarditis
Weight loss ORPHA:75566
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Abnormal myelination ORPHA:280210
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension OMIM:223900
Acute Adrenal Insufficiency
Salt craving, Anorexia, Weight loss, Delayed puberty, Failure to thrive ORPHA:95409
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Klatskin Tumor
Weight loss ORPHA:99978
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Weight loss ORPHA:100085
Late-Onset Isolated Acth Deficiency
Failure to thrive, Anorexia, Weight loss ORPHA:199299
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Eosinophilic Granulomatosis With Polyangiitis
Weight loss, Dysphagia ORPHA:183
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:353281
Pneumocystosis
Weight loss ORPHA:723
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Emotional lability, Weight loss, Dysphagia, Depression OMIM:607459
Primary Intestinal Lymphangiectasia
Growth delay, Weight loss ORPHA:90362
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Felty Syndrome
Weight loss ORPHA:47612
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Refractory Celiac Disease
Weight loss ORPHA:398063
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Failure to thrive, Dysphagia ORPHA:1018
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Proteus Syndrome
Cachexia ORPHA:744
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Familial Pancreatic Carcinoma
Anorexia, Weight loss ORPHA:1333
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Weight loss ORPHA:20
Neuroendocrine Tumor Of Stomach
Anorexia, Weight loss ORPHA:100075
Al Amyloidosis
Weight loss, Dysphagia ORPHA:85443
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Budd-Chiari Syndrome
Weight loss ORPHA:131
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Riddle Syndrome
Emotional lability, Short stature, Weight loss ORPHA:420741
Symptomatic Form Of Hfe-Related Hemochromatosis
Weight loss ORPHA:465508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Toxic Epidermal Necrolysis
Polydipsia, Weight loss, Dysphagia ORPHA:537
Caroli Disease
Anorexia, Weight loss ORPHA:53035
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Addison Disease
Salt craving, Anorexia, Weight loss, Delayed puberty, Failure to thrive ORPHA:85138
Congenital Fiber-Type Disproportion Myopathy
Fatigable weakness of bulbar muscles, Failure to thrive, Weight loss, Dysphagia ORPHA:2020
Anemia, Congenital Dyserythropoietic, Type Iv
Short stature, Weight loss OMIM:613673
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353277
Juvenile Dermatomyositis
Weight loss, Dysphagia ORPHA:93672
Immunodeficiency 31C
Growth delay, Weight loss, Short stature, Delayed puberty OMIM:614162
Thymoma
Weight loss ORPHA:99867
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Weight loss ORPHA:85408
Hermansky-Pudlak Syndrome
Anorexia, Weight loss ORPHA:79430
Cystinosis, Nephropathic
Short stature, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Dysphagia, Weight loss, G... OMIM:219800
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Q Fever
Anorexia, Weight loss ORPHA:781
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Weight loss ORPHA:49041
Erdheim-Chester Disease
Polydipsia, Weight loss ORPHA:35687
Cystic Echinococcosis
Weight loss ORPHA:400
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Stevens-Johnson Syndrome
Weight loss, Dysphagia ORPHA:36426
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Isolated Permanent Neonatal Diabetes Mellitus
Intrauterine growth retardation, Failure to thrive, Weight loss ORPHA:99885
Mucolipidosis Type Ii
Postnatal growth retardation, Short stature, Weight loss ORPHA:576
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Weight loss ORPHA:309031
Poems Syndrome
Weight loss ORPHA:2905
Polycythemia Vera
Weight loss ORPHA:729
Pancreatoblastoma
Weight loss ORPHA:677
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Oculopharyngodistal Myopathy 1
Weight loss, Dysphagia OMIM:164310
Parathyroid Carcinoma
Polydipsia, Weight loss, Dysphagia ORPHA:143
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Pyomyositis
Weight loss ORPHA:764