Gene Summary

Name:
phytanoyl-CoA hydroxylase
Synonyms:
Lnap1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased neutrophil cell number Phyhtm1b(EUCOMM)Wtsi HOM Early adult 9.51×10-14
decreased lymphocyte cell number Phyhtm1b(EUCOMM)Wtsi HOM Early adult 8.98×10-12

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Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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.

Histopathology

Images

4 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

3 Images

Immunophenotyping

Panel B FCS file(s)

3 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

10 Images

Eye Morphology

Images Slit Lamp

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Phyh 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 Phyh by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Impaired distal tactile sensation, Mildly elevated creatine kinase, Decreased ... OMIM:618400
Immunodeficiency 40
Lymphopenia OMIM:616433
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Frequent falls, Abolished vibration sense, Impaired tactile sensation, Impaired pain sensation, I... ORPHA:435387
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Impaired vibration sensation in the lower limbs, Steppage gait, Decreased nerve cond... ORPHA:352675
Subacute Inflammatory Demyelinating Polyneuropathy
Positive Romberg sign, Tremor, Frequent falls, Somatic sensory dysfunction, Peripheral demyelinat... ORPHA:206594
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Distal arthrogryposis, Frequent falls, Onion bulb formation, Ankle flexion contractu... OMIM:611228
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Peripheral demyelination, Spontaneous pain sensation, Segmental peri... ORPHA:2932
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Inability to walk, Steppage gait, Decreased nerve conduction velocit... ORPHA:99939
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Impaired vibratory sensation, Impaired pain sensation, Decreased amplitude of sensory action pote... OMIM:618912
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Somatic sensory dysfunction, Decreased number of large peripheral myelinated nerve fibers, Mildly... OMIM:615376
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Fasciculations, Hepatomegaly, Elevated circulating creatine kinase concentrati... OMIM:610717
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity, Fasciculations, Inability to walk, Elevated circulati... ORPHA:276435
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Dysmetria, Flexion contracture, Abnormal motor nerve conduction velocity, Spa... OMIM:618404
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Hypercholesterolemia, Azoospermia, Obesity, Oligospermia, Hypertriglyceridemia... OMIM:615703
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Flexion contracture, Tremor, Onion bulb formation, Steppage gait, Decreased number of peripheral ... OMIM:609260
Charcot-Marie-Tooth Disease Type 4A
Frequent falls, Chronic axonal neuropathy, Vocal cord paresis, Impaired distal tactile sensation,... ORPHA:99948
Hereditary Motor And Sensory Neuropathy V
Abnormal pyramidal sign, Frequent falls, Distal sensory impairment, Decreased motor nerve conduct... OMIM:600361
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Recurrent skin infections, Erythema nodosum, Coliti... OMIM:300635
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Null Syndrome
Progressive spastic paraplegia, Peripheral demyelination, Inability to walk, Ataxia, Abnormal cer... ORPHA:280234
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Splenomegaly, Hepatomegaly, Hypocholesterolemia, Hypersplenism, Myoclonus OMIM:610539
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Decreased motor nerve conduction velocity, Distal sensory impairment, Frequent falls, Falls OMIM:614228
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Decre... ORPHA:90103
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Abnormal pyramidal sign, Impaired vibratory sensation, Hyperornithinemia, Spastic paraparesis, De... OMIM:238970
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Decreased nerve conduction velocity, Fai... OMIM:618356
Roussy-Lévy Syndrome
Frequent falls, Somatic sensory dysfunction, Impaired vibratory sensation, Impaired pain sensatio... ORPHA:3115
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Peripheral hypomyelination, Unsteady gait, Decreased number of peripheral m... OMIM:609311
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Sensory axonal neuropathy, EEG abnormality, Premature pubarche, Joint contractures involving the ... ORPHA:457205
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired vibratory sensation, Impaired pain sensation, Hypertrophic nerv... DECIPHER:29
Early-Onset X-Linked Optic Atrophy
Choreoathetosis, Intention tremor, Decreased nerve conduction velocity, Gait ataxia, Optic disc p... ORPHA:98890
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Steppage gait, Decreased number of peripheral myelinated nerve fibers, Axon... OMIM:118210
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Sensory ataxia, Decreased sensory nerve conduction velocity, Paresthe... ORPHA:101081
Glycogen Storage Disease Vi
Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepatic glycogen co... OMIM:232700
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Hepatic steatosis, Reduced intraabdominal adipose tissue, ... ORPHA:363400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Achilles tendon contracture, Cerebellar atrophy, Frequent falls, Dysmetria, Hand ... OMIM:302800
Giant Axonal Neuropathy 2, Autosomal Dominant
Impaired distal tactile sensation, Onion bulb formation, Steppage gait, Impaired distal vibration... OMIM:610100
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal pyramidal sign, Apraxia, Abnormal cerebellum morphology, Spasticity, Gait disturbance, A... ORPHA:101001
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Loss of gluteal subcutaneous adipose tissue, Polycystic ovaries, Lipoatrophy, ... ORPHA:280356
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Ataxia, Unsteady ... OMIM:159550
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor ORPHA:101078
Neuronopathy, Distal Hereditary Motor, Type Vc
Frequent falls, Chaddock reflex, Decreased compound muscle action potential amplitude, Babinski s... OMIM:619112
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenom... OMIM:612526
Chylomicron Retention Disease
Impaired vibratory sensation, Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia, Hypocholes... OMIM:246700
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Somatic sensory dysfunction, Steppage gait, Decreased number of peripheral myelinated nerve fiber... OMIM:600882
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, EEG with persistent abnormal rhythmic activity, Impaired tactile sensation, Spast... ORPHA:206443
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Fasciculations, Bradykinesia, Ataxia, Decreased nerve conduction velocity, Rigidity, Spasticity OMIM:183050
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelinati... OMIM:605285
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Spastic paraparesis, Inability to walk, Decreased motor nerve conduc... ORPHA:101077
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Axonal degeneration, Decreased nerve conduction velocity, Elevated circulating creatine kinase co... OMIM:618138
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal sensory impairment, Steppage gait OMIM:302801
Immunodeficiency 19
Lymphopenia OMIM:615617
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Congenital Disorder Of Glycosylation, Type Iih
Cerebellar atrophy, Failure to thrive in infancy, Interface hepatitis, Elevated circulating aspar... OMIM:611182
Charcot-Marie-Tooth Disease Type 1B
Somatic sensory dysfunction, Peripheral dysmyelination, Decreased nerve conduction velocity, Elev... ORPHA:101082
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onio... OMIM:180800
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Somatic sensory dysfunction, Limb fasciculations, Abnor... ORPHA:90117
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Steppage gait, Decreased number of peripheral myelinated nerve fibers, Axon... OMIM:605588
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Obesity, Acute hepa... ORPHA:209902
Charcot-Marie-Tooth Disease Type 4G
Peripheral demyelination, Impaired vibratory sensation, Impaired tactile sensation, Impaired pain... ORPHA:99953
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Gait disturbance, Tremor ORPHA:101075
Spinocerebellar Ataxia 10
Incoordination, Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Decreased nerve conductio... OMIM:603516
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Spastic Ataxia, Charlevoix-Saguenay Type
Dysmetria, Spastic gait, Cerebellar vermis atrophy, Falls, Decreased number of large peripheral m... OMIM:270550
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Impaired proprioception, Failure to t... ORPHA:71
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Spastic paraplegia, Spasticity, Babinski sign, Optic atrophy, Abnormality of p... ORPHA:431329
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Decreased nerve conduction velocity, Hypertonia ORPHA:1368
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Chorea, Elevated hepatic transaminase, Abnormal circulating crea... ORPHA:369840
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Progressive spastic paraplegia, Sensory axonal neuropathy, Impaired pain sensation, Spastic parap... ORPHA:139578
Spinocerebellar Ataxia Type 1
Abnormality of somatosensory evoked potentials, Cerebellar atrophy, Dysmetria, Impaired proprioce... ORPHA:98755
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Failure to thriv... OMIM:613812
Ataxia-Deafness-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the cerebellum, Ataxia, Decreased nerve conduction velocity ORPHA:1188
Wilson Disease
Hepatic steatosis, Cirrhosis, Weight loss, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic fa... ORPHA:905
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Frequent falls, EEG abnormality, ... ORPHA:157941
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Abnormal circulating lipid concentration, Eleva... OMIM:615980
Lysosomal Acid Lipase Deficiency
Low alkaline phosphatase, Increased circulating lactate dehydrogenase concentration, Hepatic fail... OMIM:278000
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Increased circulating lactate dehydrogenase concentration, Ch... ORPHA:79303
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Achilles tendon contracture, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Decreased n... OMIM:612674
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Decreased nerve conduction velocity, Truncal obesity, Gait disturbance, ... ORPHA:2928
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Inability to walk, Facial diplegia OMIM:618184
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Fasciculations, Difficulty walking OMIM:615575
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Steppage gait OMIM:607678
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Distal sensory impairment, Waddling gait... OMIM:616040
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Polycystic ov... ORPHA:435660
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Hypercholesterolemia, Ataxia, Steppage gait, Distal sensory impairment, Perip... OMIM:607250
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Impaired neutrophil bactericid... OMIM:245480
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Flexion contracture, Hepatomegaly, Ataxia, Hypergonadotropic hypogonadism, Abn... OMIM:212065
Spinocerebellar Ataxia 1
Olivopontocerebellar atrophy, Spinocerebellar atrophy, Progressive cerebellar ataxia, Abnormality... OMIM:164400
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Fasciculations, Axonal degeneration, Steppage gait, Axonal degene... OMIM:614436
Abetalipoproteinemia
Hyperbilirubinemia, Impaired distal proprioception, Positive Romberg sign, Decreased HDL choleste... ORPHA:14
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Macrovesicular hepatic steatosis, Hyperalaninemia, Decreased numbe... ORPHA:298
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Peripheral demyelination, Vocal cord paresis, Decreased number of large peripheral myelinated ner... OMIM:614895
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Distal sensory impairment, Peripheral demyelination, Decreased nerve conduction velocity, Gait di... ORPHA:99944
Charcot-Marie-Tooth Disease, Type 4B3
Distal sensory impairment, Onion bulb formation, Decreased nerve conduction velocity, Gait distur... OMIM:615284
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Inability to walk, Decreased liver function, Ataxia, EEG with abnormally slow ... ORPHA:70472
Charcot-Marie-Tooth Disease, Type 4B1
Irregular myelin loops, Abnormal auditory evoked potentials, Distal sensory impairment, Decreased... OMIM:601382
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Distal sensory impairment, Decreased nerve conduction velocity, Steppage gait OMIM:302802
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Increased circulating lactate dehydrogenase concent... ORPHA:158061
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Myelin outfoldings, Clust... OMIM:607734
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Froment sign, Vocal cord paralysis, Hand parest... OMIM:162500
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic gait, Decreased amplitude of sensory action potentials, Decreased circulating apolipoprot... OMIM:256840
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia OMIM:613877
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Impaired vibratory sensation, Unsteady gait ORPHA:139536
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Blepharitis, Decreased HDL cholesterol concentration, Failure to thrive, Psoriasiform dermatitis,... OMIM:616834
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Abnormal motor nerve conduction velocity, Facial palsy, Elevated circulating creatine kinase conc... OMIM:614399
Leukodystrophy, Hypomyelinating, 2
Sensory axonal neuropathy, Choreoathetosis, Intention tremor, Spastic paraparesis, Ataxia, Decrea... OMIM:608804
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Decreased sensory nerve conduction velocity, Decreased motor... OMIM:603472
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Myelin outfoldings,... OMIM:118220
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated gamma-gl... OMIM:603471
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Peripheral demyelination, Decreased nerve conduction velocity, Gait ataxia,... OMIM:249900
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Cachexia, Ataxia, Decreased nerve conduction ... ORPHA:1933
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Sensory ataxia, Oni... OMIM:145900
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Paraparesis, Gait disturbanc... ORPHA:99014
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Chronic axonal neuropathy, Fasciculations, Steppage gait, Decreased motor nerve conduction veloci... OMIM:606595
Metachromatic Leukodystrophy
Peripheral demyelination, Spastic tetraplegia, Cholecystitis, Gallbladder dysfunction, Ataxia, De... OMIM:250100
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Elevated circulating acylcarnitine concentration, Failure to thrive, Optic atr... ORPHA:26792
Parkinsonism With Polyneuropathy
Resting tremor, Decreased amplitude of sensory action potentials, Bradykinesia, Decreased motor n... OMIM:619279
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Spastic dysarthria, Cerebellar vermis atrophy, Impaired vibration sensation... ORPHA:94124
Lymphoid System Deterioration, Progressive
Lymphopenia, Abnormal T cell morphology OMIM:247630
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:601098
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Micropenis, Cerebellar hypoplasia, Hepatomegaly, Peripheral axonal neuropathy, Spasticity, Hypoch... OMIM:618810
Charcot-Marie-Tooth Disease Type 4D
Somatic sensory dysfunction, Decreased amplitude of sensory action potentials, Inability to walk,... ORPHA:99950
Krabbe Disease
EEG abnormality, Peripheral demyelination, Decreased nerve conduction velocity, Failure to thrive... OMIM:245200
Wild Type Abeta2M Amyloidosis
Tetraparesis, Axonal loss, Decreased amplitude of sensory action potentials, Decreased nerve cond... ORPHA:85446
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ne... OMIM:601455
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Polyc... ORPHA:528
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Flexion contracture, Vocal cord paresis, Onion bulb formation, Axonal degeneration/regeneration, ... OMIM:607706
Charcot-Marie-Tooth Disease Type 1F
Somatic sensory dysfunction, Hand tremor, Impaired proprioception, Impaired vibratory sensation, ... ORPHA:101085
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Failure to thrive, Elev... OMIM:617156
Charcot-Marie-Tooth Disease Type 2B1
Axonal loss, Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fib... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Dysmetria, Spastic gait, Impaired proprioception, Impaired vibratory sensat... ORPHA:96180
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Flexion contracture, Steppage gait, Decreased motor nerve conduction velocity, Distal sensory imp... OMIM:607684
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Polycystic ovaries, Loss of gluteal subcutaneous adipose tissue... OMIM:604367
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment OMIM:613287
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Peripher... OMIM:608673
Combined Oxidative Phosphorylation Defect Type 39
EEG abnormality, Cryptorchidism, Loss of ability to walk, Involuntary movements, Cerebellar hypop... ORPHA:565624
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Steppage gait, Decreased ... OMIM:604563
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Loss of gluteal subcutaneou... ORPHA:435651
Halothane Hepatitis
Viral hepatitis, Obesity, Hepatitis, Jaundice OMIM:234350
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Distal sensory impairment, Decreased nerve conduction velocity OMIM:608895
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... OMIM:618156
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Peripheral demyelination, Hypertrophic nerve changes, Myelin outfoldings, Onion bulb formation, S... OMIM:118200
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Hepatomegaly, Hypertriglyce... ORPHA:79085
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Hepatitis, Splenomegaly, Hemiparesis ORPHA:444463
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Failure to thrive, Spasticity, Elevated hepatic tran... OMIM:617093
Sialidosis Type 1
EEG abnormality, Hernia, Splenomegaly, Ataxia, Decreased nerve conduction velocity, Gait disturba... ORPHA:812
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Frequent falls, Hand tremor, Chronic axonal neuropathy, Impaired distal tactile sensation, Decrea... OMIM:162400
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Hepatomegaly, Hypertriglyceridemia OMIM:615238
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Diaphragmatic paralysis ORPHA:868
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Hypercholesterolemia, Elevated alkaline phosphatase of bone ... OMIM:616828
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Hypercholesterolemia, L... OMIM:151660
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Ataxia, Jaundice, Giant cell hepatitis, Camptodactyly of finger, Optic atrophy OMIM:214980
Leukodystrophy, Hypomyelinating, 5
Intention tremor, Loss of ability to walk, Inability to walk, Onion bulb formation, Abnormal cere... OMIM:610532
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Ataxia, Abnormal enzyme/coenzyme activity, Giant cell hepatitis, Elevated circula... ORPHA:79095
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated alpha-fetoprotein, Abnormal pyramidal sign, Cerebellar atrophy, Chronic axonal neuropath... OMIM:606002
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Achilles tendon contracture, Dysmetria, EEG abnormality, Contr... ORPHA:456312
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypermethioninemia, Decreased liver function, Failure to thrive, ... OMIM:614300
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Adult-Onset Distal Myopathy Due To Vcp Mutation
Frequent falls, Parkinsonism, Fasciculations, Mildly elevated creatine kinase, Decreased nerve co... ORPHA:329478
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619048
Metachromatic Leukodystrophy, Late Infantile Form
Frequent falls, Decerebrate rigidity, Cholecystitis, Decreased nerve conduction velocity, Gait at... ORPHA:309256
Trichohepatoenteric Syndrome 2
Small for gestational age, Decreased serum iron, Colitis, Hepatomegaly, Failure to thrive, Hepati... OMIM:614602
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis, Prolonged neonatal... OMIM:214950
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Increased circulating ferritin concentration, Viral hepatiti... ORPHA:101330
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, EEG abnormality, Small for gestational age OMIM:610883
Chédiak-Higashi Syndrome
Increased circulating lactate dehydrogenase concentration, Spastic paraplegia, Skin rash, Tremor,... ORPHA:167
Autosomal Dominant Spastic Paraplegia Type 17
Spastic gait, Abnormal motor nerve conduction velocity, Postural tremor, Distal sensory impairmen... ORPHA:100998
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Hypertrophic nerve changes, Axonal degeneration, Decreased number... OMIM:214400
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Hyperlipidemia, Portal hypertension, Small fo... ORPHA:567983
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal sensory impairment, Steppage gait OMIM:118300
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Painless fractures due to injury, Ataxia, Hepatomegaly, Decreas... OMIM:256810
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Cryptorchidism, Hepatomegaly, Elevated hep... OMIM:615381
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Polycystic ovaries, Splenomegaly, Hepatomeg... ORPHA:370
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Hypogonadotropic hypogonadism, Peripheral demyelination, Ataxia, ... OMIM:604168
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Distal arthrogryposis, Decreased plasma total carnitine, Decreased liver funct... ORPHA:42
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormal pyramidal sign, Dysmetria, Hypogonadotropic hypogonadism, Intention tremor, Ataxia, Pare... ORPHA:48431
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619386
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Mildly elevated creatine kinase, Decreased nerve conduction velocity, Unstead... ORPHA:600
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Sensory axonal neuropathy, Fasciculations, Elevated circulating alkaline phosp... ORPHA:52430
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Dpm1-Cdg
Hepatic steatosis, Cerebellar atrophy, Hepatosplenomegaly, Pontocerebellar atrophy, Hepatomegaly,... ORPHA:79322
Hurler-Scheie Syndrome
Abnormal pyramidal sign, Hernia, Abnormal nerve conduction velocity, Splenomegaly, Hepatomegaly, ... ORPHA:93476
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mildly elevated creatine kinase, Decreased nerve conduction velocity, Mitochondrial swelling, Art... ORPHA:397744
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraplegia, Ataxia, Decreased nerve conduct... OMIM:256600
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Decreased nerve conduction velocity OMIM:614932
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Metachromatic Leukodystrophy, Adult Form
Frequent falls, Intention tremor, Cholecystitis, Decreased nerve conduction velocity, Neoplasm of... ORPHA:309271
Monomelic Amyotrophy
Fasciculations, Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction, ... ORPHA:65684
X-Linked Agammaglobulinemia
Cellulitis, Recurrent pneumonia, Sinusitis, Weight loss, Arthritis, Hypocalcemia, Osteomyelitis, ... ORPHA:47
Cednik Syndrome
Abnormality of peripheral nerve conduction, Ataxia, Hypogonadism, Optic atrophy ORPHA:66631
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Hyperbilirubinem... OMIM:613070
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Impaired proprioception, Sensory ataxia, Impaired vibration sensation i... OMIM:609033
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Small for gestational age, Degeneration of anterior horn cells, A... OMIM:604320
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Elevated hepatic transaminase, Hypoalbuminemia, Hypertrigl... OMIM:619013
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Infantile Neuroaxonal Dystrophy
Abnormal pyramidal sign, Spastic tetraparesis, Flexion contracture, Cerebellar atrophy, Increased... ORPHA:35069
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypermethioninemia, Elevated plasma citrulline, Intrahepatic cholestasis, F... OMIM:605814
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia OMIM:601466
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Unsteady gait, Gait ataxia, Distal sensory impairment, Failu... OMIM:616652
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Ulcerative colitis, Glomerulonephritis, Splen... ORPHA:2137
Dystonia 31
Parkinsonism, Difficulty walking, Abnormal posturing OMIM:619565
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Choreoathetosis, Hypercholesterolemia, Decrea... OMIM:208920
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Abnormal sensory nerve conduction velocity, Impaired vibration sensation... ORPHA:88628
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Wrist flexion contracture, Impaired distal vibration sensation, Decreased compound muscle action ... OMIM:619519
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Metachromatic Leukodystrophy, Juvenile Form
Frequent falls, Intention tremor, Cholecystitis, Decreased nerve conduction velocity, Spasticity,... ORPHA:309263
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation, Decreased nerve conduction velocity OMIM:608236
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Diffuse hepatic steatosis, Babinski sign, Optic atro... OMIM:264470
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased circulating lactate dehydrogenase concentration, Cholestasis, Elevated gamma-glutamyltr... ORPHA:247598
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Polycystic ovaries, Splenomegaly, Hepatomeg... ORPHA:264580
Combined Oxidative Phosphorylation Defect Type 13
Choreoathetosis, Ankle flexion contracture, Decreased nerve conduction velocity, Lower limb hyper... ORPHA:319514
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatic failure, Hepatomegaly, Failure to thrive, Hypogonadism OMIM:617872
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Small for gestational age, Decreased nerve conduction velocity, Elevated cir... OMIM:615368
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Abnormal pyramidal sign, Spastic gait, Hepatic failure, Impaired vibratory sensation, Hyperornith... ORPHA:415
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Cerebellar atrophy, EEG abnormality, Inability to walk, Athetosis, Ataxia, Hep... OMIM:615356
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Lip... ORPHA:2348
Griscelli Syndrome
Abnormal circulating lipid concentration, Splenomegaly, Ataxia, Jaundice, Hepatomegaly, Hepatitis... ORPHA:381
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Jaundice, Giant cell hepatitis, Failure to thrive, Elevated hepati... OMIM:613404
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Distal sensory impairment, Decrea... OMIM:607831
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Osteoarthritis, Hepatomegaly, El... OMIM:606069
Autosomal Agammaglobulinemia
Cellulitis, Sinusitis, Recurrent skin infections, Arthritis, Bronchiectasis, Osteomyelitis, Failu... ORPHA:33110
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Hepatomegaly, Jaundice ORPHA:60
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Prolonged neonatal jaundice, Hepatitis, Hyponatremia ORPHA:199296
Alstrom Syndrome
Hepatic steatosis, Recurrent pneumonia, Tubulointerstitial nephritis, Hepatomegaly, Truncal obesi... OMIM:203800
Friedreich Ataxia
Sensory axonal neuropathy, Dysmetria, Impaired proprioception, Intention tremor, Inability to wal... ORPHA:95
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Splenomegaly, Hepatomegaly, Myocarditis, Elevated circu... ORPHA:829
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Flexion contracture, Onion bulb formation, Decreased sensory nerve conduction velocity, Axonal de... OMIM:218000
Metachromatic Leukodystrophy
Incoordination, Frequent falls, Tip-toe gait, Ataxia, Gait disturbance, Abnormal gallbladder morp... ORPHA:512
Beta-Thalassemia
Cholelithiasis, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Abnormality of iron ho... ORPHA:848
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fibrosis, Splenomegaly, Deple... OMIM:251880
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Portal hypertension, Hepatosplenomegaly, Spastic tetraplegia, Peripheral demyelination, Cryptorch... OMIM:609136
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Polycystic ovaries, Lipoatrophy, Hepatomegaly, Pancreatitis ORPHA:79084
Classic Pantothenate Kinase-Associated Neurodegeneration
Frequent falls, Opisthotonus, Inability to walk, Gait disturbance, Optic disc pallor, Spasticity,... ORPHA:216866
Hemochromatosis Type 4
Cirrhosis, Increased circulating ferritin concentration, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Hepatomegaly, Ataxia, Elevated hepatic transaminase, Hypertriglyceridemia, Abn... ORPHA:98907
Graft Versus Host Disease
Lipodystrophy, Myositis, Hepatosplenomegaly, Pneumonia, Gastrointestinal inflammation, Inflammato... ORPHA:39812
Cerebrotendinous Xanthomatosis
Paraparesis, Abnormal cerebellar peduncle morphology, Abnormality of extrapyramidal motor functio... ORPHA:909
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Lipoatrophy, Hyperuricemia, Hy... ORPHA:79083
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Elevated circulating... OMIM:606070
Acute Disseminated Encephalomyelitis
EEG with generalized slow activity, Abnormal pyramidal sign, Somatic sensory dysfunction, Viral h... ORPHA:83597
Familial Chylomicronemia Syndrome
Hepatic steatosis, Acute pancreatitis, Hyperlipidemia, Recurrent pancreatitis, Hepatosplenomegaly... ORPHA:444490
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Babinski sign OMIM:605726
Primary Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Splenomegaly, Lipoatrophy, ... ORPHA:90970
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Orthostatic hypotension, Gastrointestina... ORPHA:186
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Increased C-peptide level, Decreased plasma carnitine, Mildly elevated creatin... ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated gamma-gl... OMIM:614582
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Legionnaires Disease
Cellulitis, Hyponatremia, Infectious encephalitis, Endocarditis, Splenomegaly, Ataxia, Jaundice, ... ORPHA:549
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Decreased amplitude of sensory action potentials, Decreased nerve cond... OMIM:618733
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Jaundice, Giant cell hepatitis, Failure to thrive, Elevated hepati... OMIM:208085
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Warburg Micro Syndrome 4
Cerebellar atrophy, Small scrotum, Flexion contracture, Spastic tetraplegia, Cryptorchidism, Micr... OMIM:615663
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Flexion contracture, Failure to thrive in infancy, Spastic paraplegia, Decreased sensory nerve co... OMIM:619026
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Recurrent otitis ... OMIM:614921
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Ddost-Cdg
Lipodystrophy, Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Oromotor apra... ORPHA:300536
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Decreased plasma carnitine, Hepatomegaly, Decreased carnitine level in liver, ... OMIM:212140
Cockayne Syndrome Type 1
Uveitis, Contractures involving the joints of the feet, Enamel hypoplasia, Cryptorchidism, Optic ... ORPHA:90321
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Axonal loss, Orthostatic hypotension, Parkinsonism, Degeneration of anterior horn cells, Decrease... OMIM:118301
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Abnormal pyramidal sign, Spastic tetraplegia, Cryptorchidism, Decreased motor nerve conduction ve... OMIM:615419
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Impaired proprioception, Impaired vibratory sensation, D... OMIM:229300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Dysmetria, Flexion contracture, Cerebellar atrophy, Shawl scrotum, Hepatomegal... OMIM:616263
D-Bifunctional Protein Deficiency
Hepatic steatosis, Cerebellar atrophy, Cholestasis, Bile duct proliferation, Splenomegaly, Hepato... OMIM:261515
Infantile Krabbe Disease
Opisthotonus, Hyperesthesia, Spastic diplegia, Lower limb spasticity, Decreased nerve conduction ... ORPHA:206436
Combined Oxidative Phosphorylation Deficiency 27
Tetraparesis, Microvesicular hepatic steatosis, Opisthotonus, Cerebellar hypoplasia, Failure to t... OMIM:616672
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Decreased plasma total carnitine, Elevated circulating acylca... ORPHA:228305
Charcot-Marie-Tooth Disease Type 1E
Impaired tactile sensation, Inability to walk, Impaired vibration sensation in the lower limbs, I... ORPHA:90658
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Peroxisome Biogenesis Disorder 4B
Decreased liver function, Hepatomegaly, Ataxia, Decreased nerve conduction velocity, Gait disturb... OMIM:614863
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased proportion... OMIM:617514
Alg12-Cdg
Recurrent pneumonia, Hyponatremia, Chronic rhinitis, Cryptorchidism, Micropenis, Cerebellar hypop... ORPHA:79324
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hepatic steatosis, Limb hypertonia, Hyperalaninemia OMIM:615918
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... ORPHA:168563
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Flexion contracture, Cholestasis, Inguinal hernia, Hepatitis, Cholestatic li... ORPHA:440713
Complement Component 4B Deficiency
Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Chronic active hepatitis OMIM:614379
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Lethal Ataxia With Deafness And Optic Atrophy
Abnormality of somatosensory evoked potentials, EEG with focal epileptiform discharges, Ataxia, H... ORPHA:1187
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Elevated circulating ala... OMIM:619662
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy ORPHA:79087
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Abnormal pyramidal sign, Somatic sensory dysfunction, Choreoathetosis... ORPHA:64753
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Splenomegaly, Hepatomegaly, Elevated circu... OMIM:613327
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Cholestasis, Bradykinesia, Hepatomegaly, Failure to thrive, Macrovesicular ... OMIM:614924
Cockayne Syndrome A
Cerebellar atrophy, Atypical scarring of skin, Enamel hypoplasia, Cryptorchidism, Micropenis, Spl... OMIM:216400
Chediak-Higashi Syndrome
Periodontitis, Splenomegaly, Ataxia, Jaundice, Hepatomegaly, Decreased nerve conduction velocity,... OMIM:214500
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Enamel hypoplasia ORPHA:363523
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Sclerosing cholangitis, Decreased circulating beta-2-microglobulin level, Acute otitis... ORPHA:572
Primary Sclerosing Cholangitis
Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ulcerative colitis, C... ORPHA:171
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, EEG abnormality, Decreased nerve conduction velocity, Abnormal mitochondrial ... ORPHA:485421
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Tremor, Cerebellar atrophy, Somatic se... ORPHA:466768
Aicardi-Goutieres Syndrome 9
Spastic tetraparesis, Hepatic steatosis, Portal hypertension, Acute pancreatitis, Spastic tetrapl... OMIM:619487
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Obesity, Hepatomegaly, Xanthelasma, ... ORPHA:412
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Frequent falls, Vocal cord paresis, Impaired pain sensation, Head tremor, Ina... ORPHA:99949
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment, D... OMIM:601152
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hyponatremia, Hypercalcemia, Hashimoto thyroiditis, Decreased circulatin... ORPHA:199299
Bacterial Toxic-Shock Syndrome
Cellulitis, Sinusitis, Myositis, Recurrent skin infections, Pneumonia, Elevated circulating creat... ORPHA:36234
Cockayne Syndrome
Action tremor, Cryptorchidism, Malar rash, Cerebellar atrophy, Somatic sensory dysfunction, Ename... ORPHA:191
Hereditary Sensory And Autonomic Neuropathy Type 1
Trophic changes related to pain, Abnormality of the autonomic nervous system, Impaired distal tac... ORPHA:36386
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Membranous nephropathy, Hepatitis, Inflammatory abnormality of the ... ORPHA:37042
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Abnormal circulating lipid concentrati... ORPHA:79086
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Peripheral demyelination, Abnormal autonomic nervous system physiology, ... OMIM:252320
Immunodeficiency 56
Recurrent otitis media, Hepatic failure, Recurrent pneumonia, Cholangitis, Bronchiectasis, Chroni... OMIM:615207
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
X-Linked Charcot-Marie-Tooth Disease Type 2
Hand tremor, Optic neuropathy, Spastic paraparesis, Steppage gait, Clasp-knife sign, Distal senso... ORPHA:101076
Mccune-Albright Syndrome
Cholestasis, Primary hypercortisolism, Ovarian cyst, Paresthesia, Precocious puberty, Hepatitis, ... ORPHA:562
Cockayne Syndrome B
Cerebellar calcifications, Atypical scarring of skin, Small for gestational age, Cryptorchidism, ... OMIM:133540
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Impaired pain sensation, Impaired vibration sensation in the lower limbs, Hand paresthesia, Osteo... OMIM:613640
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Peripheral demyelinati... OMIM:220111
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent pneumonia, Hepatosplenomegaly, Pneumonia, Erythroderma, Hepatitis, Otitis media, Chroni... ORPHA:169160
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Hyperlipidemia, Dorsocervical fat pad, Acne, Paradoxical increased cortisol se... ORPHA:189427
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Hepatic steatosis, Polycystic ovaries, Increased facial ... ORPHA:280365
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hyperlipidemia, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the cerebellar ... ORPHA:254346
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Failure to thrive, Elevated hepatic trans... OMIM:615438
Wilson Disease
Hepatic failure, Osteoarthritis, Hepatomegaly, Atypical or prolonged hepatitis, Chondrocalcinosis... OMIM:277900
Congenital Enterovirus Infection
Hepatic failure, Cholestasis, Infectious encephalitis, Myocarditis, Hepatitis, Hypoalbuminemia, H... ORPHA:292
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Hypercholes... ORPHA:69663
Congenital Disorder Of Deglycosylation 1
Elevated alpha-fetoprotein, Dysmetria, Action tremor, Decreased body weight, Involuntary movement... OMIM:615273
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Gracile Syndrome
Increased circulating ferritin concentration, Hepatic steatosis, Cholestasis, Elevated hepatic ir... ORPHA:53693
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Optic atrophy, Cryptorchidism, Nonprogressive cerebellar ataxia... OMIM:610198
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating cre... OMIM:600649
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Hyperlipidemia, Decreased plasma total carnitine, Elevated ci... ORPHA:228308
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Testicular neoplasm, Dorsocervical fat pad, Acne, Abnormal sub... ORPHA:189439
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Lipodystrophy, Cerebellar hypoplasia, Pontocere... OMIM:619273
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Cholestasis, Elevated gamma-glutamylt... ORPHA:562639
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Decreased motor nerve conduction velocity, Facial palsy, Cerebellar atrophy OMIM:601170
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction ORPHA:101005
Drug Reaction With Eosinophilia And Systemic Symptoms
Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Tubulointerstitial nephritis, Acu... ORPHA:139402
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cerebellar atrophy, EEG abnormality, Cholestasis, Cholangitis, ... OMIM:124000
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic steatosis, EEG abnormality, Hepatic failure, Hepatomegaly, Low plasma citrulline, Optic a... OMIM:261680
Scheie Syndrome
Spastic paraparesis, Abnormal nerve conduction velocity, Splenomegaly, Hepatomegaly, Cerebral pal... ORPHA:93474
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Painless fractu... OMIM:201300
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Chronic hepatitis, Splenomegaly, Hepatomegaly, Failure to thrive, Hepatit... OMIM:308230
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Tangier Disease
Hepatosplenomegaly, Impaired temperature sensation, Peripheral axonal neuropathy, Hypertriglyceri... ORPHA:31150
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Elevated gamma-glutamyltransferase level, Bile duct proliferation, Cerebellar... OMIM:618329
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Chronic hepatitis, Chronic mucocutaneous candidiasis, Hepatiti... OMIM:269200
Digital Extensor Muscle Aplasia-Polyneuropathy
Impaired pain sensation, Abnormal nerve conduction velocity, Camptodactyly of finger ORPHA:2926
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Portal hypertension, Hepatosplenomegaly, Failure to thrive in infancy, Cholangitis, Acute hepatic... ORPHA:228426
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration ORPHA:209919
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Hypogonadism OMIM:610651
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Periportal fibrosis, Decreased plasma carnitine, Hepatomegaly, Hepatocellular ... OMIM:201475
Neutral Lipid Storage Myopathy
Hepatic steatosis, Increased circulating lactate dehydrogenase concentration, Cholecystitis, Fasc... ORPHA:98908
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Reduced intrathoracic adipose tissue, Polyc... OMIM:608594
Japanese Encephalitis
EEG abnormality, Opisthotonus, Cogwheel rigidity, Respiratory paralysis, Abnormality of extrapyra... ORPHA:79139
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia, Cryptorchidism, Obesity, Ambiguous genitalia, female, Eunuchoi... ORPHA:91
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaundic... OMIM:194380
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Failure to thrive in infancy, Decreased nerve conduction velocity, Decreased number of peripheral... ORPHA:477817
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Increased circulating lactate dehydrogenase concentration, Elevated circulatin... ORPHA:99901
Avian Influenza
Increased circulating lactate dehydrogenase concentration, Pneumonia, Infectious encephalitis, El... ORPHA:454836
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Cryptorchidism, Methylmalonic acidemia, Inguinal hernia, Decreased methionin... OMIM:614857
Sporadic Infantile Bilateral Striatal Necrosis
Parkinsonism, Resting tremor, Titubation, Bradykinesia, Gait ataxia, Hemiplegia, Chorea, Progress... ORPHA:225147
Multifocal Motor Neuropathy
Fasciculations, Motor conduction block ORPHA:641
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Portal hypertension, Failure to thrive in infancy, Hashimoto thyroiditis, Splenomegaly, Hepatomeg... OMIM:613385
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Reduced intrathoracic adipose tissue, Polyc... OMIM:269700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Infectious encephalitis, Colitis, Failure to thrive, Biliary tract ... OMIM:209920
Microsporidiosis
Cholangitis, Prostatitis, Hepatitis, Pancreatitis, Keratitis, Abnormality of the endometrium, Inf... ORPHA:2552
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Cerebellar atrophy, Hepatic failure, Paralysis, Bile duct proli... OMIM:203700
Melioidosis
Cellulitis, Pneumonia, Parotitis, Cutaneous abscess, Prostatitis, Osteoarthritis, Hepatitis, Abno... ORPHA:31202
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Fu... OMIM:618549
Q Fever
Abnormality of the liver, Hepatosplenomegaly, Pneumonia, Cholecystitis, Maculopapular exanthema, ... ORPHA:781
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Secondary hyperaldosteronism, Reduced circulating transferrin concentr... ORPHA:90363
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Repetitive compulsive behavior, Action tremor, Perineal hypospa... ORPHA:66634
Smith-Lemli-Opitz Syndrome
Recurrent otitis media, Small scrotum, Elevated 7-dehydrocholesterol, Septate vagina, Cryptorchid... OMIM:270400
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Aspergillosis
Sinusitis, Pneumonia, Infectious encephalitis, Bronchiectasis, Osteomyelitis, Hepatitis, Keratitis ORPHA:1163
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Multiple joint contractures, Small for gestational age, Micropenis, Paresthesi... ORPHA:2959
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Spastic paraparesis, Lower limb spasticity, Onion bulb formation, Decreased sen... ORPHA:320375
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Diffuse axonal swelling, ... OMIM:602433
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Erythroderma, Failure to thrive, Hepatitis, Arthritis OMIM:304790
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Abnormal enzyme/coenzyme activity, Spasticity, Chorea, Hyperglycinemi... ORPHA:941
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Accessory... OMIM:619418
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Abnormal pyramidal sign, Spastic tetraparesis, Decreased liver function, Ataxia, Hepatomegaly, Fa... ORPHA:436271
Dominant Beta-Thalassemia
Hepatosplenomegaly, Failure to thrive in infancy, Chronic hepatitis, Splenomegaly, Jaundice, Abno... ORPHA:231226
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ataxia OMIM:275630
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Hepatic steatosis, Opisthotonus, Choreoathetosis, Cerebellar atrophy, Sp... ORPHA:445038
Interstitial Lung And Liver Disease
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... OMIM:615486
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Mohr-Tranebjaerg Syndrome
Spasticity, Abnormal posturing, Tremor OMIM:304700
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Splenomegaly, Hepatomegaly, Keratoconjunctivitis sicca... ORPHA:91138
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Action tremor, EEG abnormality, Athetosis, Nodular regenerative hyperplasia of liver, Hyperkineti... ORPHA:404454
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia OMIM:604250
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Hypercholesterolemia, Ulcerative colitis, ... ORPHA:79259
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Hepatic fibrosis, Hyponatr... ORPHA:275761
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Kaufman Oculocerebrofacial Syndrome
Hypoplastic labia majora, Failure to thrive, Optic disc pallor, Hypocholesterolemia, Clitoral hyp... OMIM:244450
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Splenom... OMIM:610199
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hyperhomocystinemia, Hepatic steatosis, Hypermethioninemia, Inguinal hernia, Failure to thrive, P... OMIM:236200
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Decreased serum zinc, Cholestasis, Spasti... ORPHA:541423
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, EEG abnormality, Lipid accumulation in hepatocytes, Ataxia, Jaundice, Hepatom... ORPHA:20
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatomegaly OMIM:201450
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Pneumonia, Small for gestational age, Hypocalcemia, Obesity, Hepatomegaly, Jaund... ORPHA:26793
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Recurrent otitis media, Recurrent pneumonia, Pneumonia, Cholangitis, Cholecystit... ORPHA:183675
Mitochondrial Trifunctional Protein Deficiency
Frequent falls, Cholestasis, Failure to thrive in infancy, Hypocalcemia, Tip-toe gait, Chronic he... ORPHA:746
Bickerstaff Brainstem Encephalitis
Tetraparesis, Abnormal pyramidal sign, EEG abnormality, Pneumonia, Impaired proprioception, Abnor... ORPHA:79138
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hep... OMIM:212138
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Postinfectious Vasculitis
Viral hepatitis, Pneumonia, Weight loss, Gastrointestinal inflammation, Orchitis, Bacterial endoc... ORPHA:48435
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Acute hepatic steatosis, Opisthotonus, Acute hyperammonemia OMIM:210200
Adrenomyodystrophy
Hepatic steatosis OMIM:300270
Lichen Planopilaris
Hepatitis ORPHA:525
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating alanine aminotransferase concentration, Decreased plasma total carnitine, El... OMIM:608836
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Spasticity, Chorea, Skin rash, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Gaucher Disease
Splenomegaly, Hemiplegia/hemiparesis, Ataxia, Hepatomegaly, Osteoarthritis, Osteomyelitis, Elevat... ORPHA:355
Myasthenia Gravis
Myositis, Hashimoto thyroiditis, Paresthesia, Rheumatoid arthritis, Hepatitis ORPHA:589
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Female hypogonadism, Enamel hypoplasia, Chronic oral candidiasis, Iridocyclitis, ... OMIM:240300
Seckel Syndrome 10
Acute pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase concentratio... OMIM:617253
Hurler Syndrome
Abnormal pyramidal sign, Hernia, Spastic paraparesis, Abnormal nerve conduction velocity, Splenom... ORPHA:93473
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Hypercholesterolemia, Contractures of the large jo... ORPHA:2457
Choreoacanthocytosis
Increased circulating lactate dehydrogenase concentration, Phonic tics, Hyperkinetic movements, I... ORPHA:2388
Chronic Mucocutaneous Candidiasis
Abnormal vagina morphology, Cheilitis, Abnormal dental enamel morphology, Hepatitis, Skin rash ORPHA:1334
Thymic Aplasia
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Failure to thrive, Eczematoid... ORPHA:83471
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:619510
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Hypokalemia, Increased serum bile acid concentration, Cholestas... OMIM:619377
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Decreased liver function, Hepatomegaly, Tongue fasciculations, Myoclonus OMIM:614922
Mucopolysaccharidosis Type 7
Inguinal hernia, Umbilical hernia, Hepatitis, Splenomegaly ORPHA:584
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Immunodeficiency 87 And Autoimmunity
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... OMIM:619573
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Flexion contracture, Inability to walk, Splenomegaly, Hepatomegaly, Nephriti... OMIM:617303
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Rift Valley Fever
Paralysis, Uveitis, Infectious encephalitis, Jaundice, Paraparesis, Hepatitis, Hemiparesis, Eleva... ORPHA:319251
Simple Cryoglobulinemia
Viral hepatitis, Weight loss, Spontaneous pain sensation, Paresthesia, Nephritis, Pericarditis, M... ORPHA:91139
Acute Liver Failure
Incoordination, Hepatocellular necrosis, Ataxia, Hepatic periportal necrosis, Jaundice, Hepatic n... ORPHA:90062
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis ORPHA:977
Pearson Syndrome