Gene Summary

Name:
eukaryotic translation initiation factor 2B, subunit 5 epsilon
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating creatinine level Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 6.79×10-06
increased bone mineral content Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 3.08×10-05
decreased mean corpuscular volume Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 3.96×10-10
decreased circulating glucose level Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 4.95×10-06
decreased mean corpuscular hemoglobin concentration Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 4.01×10-07
abnormal bone structure Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 8.35×10-06
decreased granulocyte number Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 2.24×10-07
decreased heart weight Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 2.95×10-05
abnormal bone mineralization Eif2b5tm1a(EUCOMM)Wtsi HET Early adult 1.93×10-06

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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.

Phenotype associated images not available

Human diseases caused by Eif2b5 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 Eif2b5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukoencephalopathy With Vanishing White Matter 5
Loss of ambulation OMIM:620315

The table below shows human diseases predicted to be associated to Eif2b5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f... OMIM:606482
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Somatic sensory dysfunction, Peripheral demyelination, Axonal degeneration/regeneration, Peripher... OMIM:620378
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Paresthesia, Positive Romberg sign, Gait ataxia, Distal sensory impai... OMIM:601098
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal sensory impairment, Clusters of axonal regeneration, Decreased number of peripheral myelin... OMIM:607734
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelination, Distal sensory i... OMIM:615185
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Distal sensory impairment OMIM:616039
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Axonal degeneration/regeneration, Distal sensory impairment, Segmental peripheral demyelination, ... OMIM:606483
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Decreased skull ossification, Abnormal cardiac septum morphology, Thrombocyt... ORPHA:3319
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor... OMIM:607791
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception ORPHA:231445
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Peripheral demyelination, Gait ataxia, Decreased number of lar... OMIM:614895
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Gait ataxia, Distal sensory impairment, Decreased number of periphera... OMIM:180800
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Optic atrophy, CNS hypomyelination, Failure to thrive, Seiz... OMIM:312080
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Chronic Inflammatory Demyelinating Polyneuropathy
Spontaneous pain sensation, Somatic sensory dysfunction, Peripheral demyelination, Paresthesia, S... ORPHA:2932
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Distal sensor... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli... OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli... OMIM:607677
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Peripheral demyelination, Distal sensory impairment, Decreased number... OMIM:118200
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Peripheral demyelination, Myelin tomacula, Distal sensory impairment,... OMIM:145900
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Distal sensory impairment, Decreased number of peripheral myelinated nerve f... OMIM:607731
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelination, Distal sensory i... ORPHA:101097
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... OMIM:607080
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... OMIM:608673
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation OMIM:608236
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hypoesthesia, Segmental peripheral demyelination/remyelination, Hand paresthesia OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Impaired pain sensation, Axonal degeneration/regeneration, Decreased number of peripheral myelina... OMIM:607706
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Distal sensory impairment, Decreased number of peripheral myelinated ... OMIM:118220
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy, Dysesthesia ORPHA:98916
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Spinocerebellar Ataxia Type 43
Limb ataxia, Gait ataxia, Distal sensory impairment, Peripheral axonal neuropathy, Decreased numb... ORPHA:497764
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Peripheral demyelination, Distal sensory impairment, Onion bulb formatio... OMIM:618279
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Null Syndrome
Optic atrophy, CNS hypomyelination, Peripheral demyelination, Demyelinating peripheral neuropathy... ORPHA:280234
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi... OMIM:614322
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Distal sen... OMIM:311070
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Onion bulb formation, Impaired distal tactile sensation, Impaired d... OMIM:610100
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Charcot-Marie-Tooth Disease, Type 4H
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Peripheral hyp... OMIM:609311
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Seizure, Abnormal astrocyte morphology, Paresthesia, Gait ataxia, Dy... ORPHA:217260
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul... OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration, Distal sensory impairment OMIM:607736
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination, Ataxia OMIM:616684
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelination, Distal sensory i... ORPHA:99953
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Osteopetr... OMIM:620366
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Peripheral demyelination, Positive Romberg sign, Distal sensory impa... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli... OMIM:605588
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Stxbp1-Related Encephalopathy
Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Seiz... ORPHA:599373
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f... OMIM:604484
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Distal sensory impairment, Peripheral hypomyelination OMIM:611228
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Axonal regeneration, Onion bulb formation, Distal sensory impairment OMIM:608323
Developmental And Epileptic Encephalopathy 71
CNS demyelination, Gliosis OMIM:618328
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Distal sensory impairment ORPHA:99944
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Peripheral demyelination, Decreased body weight, Ataxia, Axonal loss OMIM:617672
Charcot-Marie-Tooth Disease, Type 4C
Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Distal sensory impairment, ... OMIM:601596
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination OMIM:605253
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Athetosis, Gliosis OMIM:300857
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Gait ataxia, Dysmetria, Gliosis, Ataxia, Short stature OMIM:213200
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait, ... ORPHA:401840
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Distal sensory impairment, Peripheral axonal neuropathy, Impaired distal tactile s... OMIM:615035
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Difficulty walking, Agenesis of corpus callosum, Babinski sign, L... ORPHA:401820
Neuropathy, Congenital Hypomyelinating, 2
Onion bulb formation, Facial diplegia, Sensory ataxia, Decreased number of peripheral myelinated ... OMIM:618184
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Gait ataxia, Distal sensory impairment, Impaired distal tactile sensatio... ORPHA:101111
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Distal sensory impairment... OMIM:604563
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Chorea, Peripheral demyelination, Peripheral hypomyelination, Axonal degeneration, Peripheral axo... OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Distal sensory impairment, Peripheral axonal neuropathy, Decreased number of large... OMIM:617087
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Charcot-Marie-Tooth Disease, Type 4B1
Irregular myelin loops, Facial palsy, Distal sensory impairment, Myelin outfoldings OMIM:601382
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia OMIM:617056
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Distal sensory impairment, Decreased number of peripheral m... OMIM:607250
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Peripheral demyelination, Gait ataxia, CNS demyelination OMIM:249900
Huntington Disease
Chorea, Gait ataxia, Gliosis OMIM:143100
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory... OMIM:605285
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Abnormal upper motor neuron morphology, Peripheral demyelination, Gliosis OMIM:221770
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of p... OMIM:609260
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Spasticity, Failure to thrive, Tetraparesis, Astrocytosis, Gait ataxia, Cogwheel r... ORPHA:225154
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Failure to thrive, Leukodystrophy, Peripheral demyelination, Gait ataxia, Dysmetri... OMIM:614877
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Somatic sensory dysfunction, Distal... OMIM:615376
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Spasticity, Optic atrophy, Inability to walk, Babinski sign, Abnormal myelina... ORPHA:431329
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Cerebellar atrophy, Failure to thrive, Generalized-onset seizure, Akinesia, Optic ... OMIM:618249
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination, Somatic sensory dysfunction ORPHA:71211
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Seizure, Inability to walk, Obesity, Lower limb spasticity, Ataxia, Delayed mye... OMIM:616756
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Peripheral demyelination, Small fo... OMIM:616733
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen, Hypog... OMIM:617872
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Impaired vibration sensation in the lower limbs, Peripheral demyelination, Positiv... OMIM:609033
Developmental And Epileptic Encephalopathy 14
Delayed CNS myelination, Gliosis OMIM:614959
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Unconjugated hyperbili... ORPHA:232
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination, Ataxia OMIM:200100
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Rickets, Osteomalacia OMIM:179830
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal hemoglobin, Thrombocytopen... ORPHA:848
Trigeminal Neuralgia
Somatic sensory dysfunction, Cranial nerve compression, Peripheral demyelination, Paresthesia, CN... ORPHA:221091
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... ORPHA:98764
Charcot-Marie-Tooth Disease, Type 4D
Distal sensory impairment, Impaired distal tactile sensation, Impaired distal proprioception, Axo... OMIM:601455
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Distal sensory impairment, Peripheral hypomyelination OMIM:616287
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Somatic sensory dysfunction, Axonal degeneration/regeneration, Decreased number of peripheral mye... OMIM:600882
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Impaired pain sensation, Distal sensory impairment, Facial palsy, Onion bulb formation, Impaired ... OMIM:607684
Spinocerebellar Ataxia 17
Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Gliosis, Ataxia OMIM:607136
Spinocerebellar Ataxia 21
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnor... OMIM:607454
Folinic Acid-Responsive Seizures
Optic atrophy, Broad-based gait, Generalized myoclonic seizure, Cerebellar atrophy, Atonic seizur... ORPHA:79097
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Hand tremor, Agenesis of corpus callosum, Lower limb spasticity, ... ORPHA:401830
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Gliosis, CNS demyelination, Somatic sensory dysfunction OMIM:221820
Microcephaly 10, Primary, Autosomal Recessive
Gliosis, Intrauterine growth retardation, Delayed CNS myelination, Small for gestational age OMIM:615095
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Gliosis, Leukodystrophy, Ataxia OMIM:169500
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Macular degeneration, Resting tremor, Akinesia, Gait ataxia, Intentio... ORPHA:247234
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration, Rickets, Glycosuria OMIM:615605
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... ORPHA:391411
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Spasticity, Involuntary movements, Failure to thrive, Seizure, Difficulty walking,... ORPHA:442835
Tyrosinemia Type 1
Generalized aminoaciduria, Rickets of the lower limbs, Splenomegaly ORPHA:882
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Leigh Syndrome, Nuclear
Optic atrophy, Failure to thrive, CNS demyelination, Gliosis, Ataxia OMIM:256000
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Krabbe Disease
Optic atrophy, Peripheral demyelination, CNS demyelination, Failure to thrive OMIM:245200
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Cerebellar atrophy, Severe demyelination of the white matter, Seizure, Abnormality... OMIM:236792
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Cerebellar atrophy, Seizure, Inability to walk, Myoclonus, Rigidity, Loss of ambul... OMIM:618241
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Distal sensory impairment, Decreased number of peripheral myelinated nerve f... OMIM:607831
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... OMIM:179800
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral myelinated ner... OMIM:620542
Aceruloplasminemia
Blepharospasm, Involuntary movements, Macular degeneration, Chorea, Limb ataxia, Gait ataxia, Aki... ORPHA:48818
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Increased mean corpuscular volume, Tracheomalacia, Persistence of hemogl... OMIM:612561
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Cerebral hypomyelination, CNS demyelination, Gliosis OMIM:603896
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hem... OMIM:611590
Hemochromatosis, Type 3
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... OMIM:604250
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis, Distal sensory impairment OMIM:604218
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal... ORPHA:98773
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypocalcemia, Hypophosphatemia, Iron deficiency anemia, Tooth abscess ORPHA:89937
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Cerebral hypomyelination, Gliosis, Ataxia, Short stature, Abnormal myelination ORPHA:280210
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Charcot-Marie-Tooth Disease Type 2B1
Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Distal s... ORPHA:98856
Tangier Disease
Impaired pain sensation, Impaired temperature sensation, Peripheral demyelination, Facial diplegi... OMIM:205400
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Seizure, Akinesia, Myoclonus, Distal sensory impairment, Rigidity... OMIM:606693
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Chorea, Paresthesia, Dysmetria, Peripheral hypomyelination, Atax... ORPHA:48431
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, Parki... OMIM:619911
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Somatic sensory dysfunction ORPHA:101082
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Adducted Thumbs Syndrome
Myelin-dependent gliosis, Cerebral dysmyelination OMIM:201550
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutropenia OMIM:266130
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Gait ataxia, Gliosis OMIM:618369
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Autosomal Spastic Paraplegia Type 58
Chorea, Peripheral demyelination, Gait ataxia, Dysmetria, Spastic ataxia, Short stature ORPHA:397946
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation, Distal sensory impairment OMIM:614455
Charcot-Marie-Tooth Disease Type 4A
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Distal sen... ORPHA:99948
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Gait ... ORPHA:90103
Adult Krabbe Disease
Acroparesthesia, Somatic sensory dysfunction, Peripheral demyelination, Impaired tactile sensatio... ORPHA:206448
Oslam Syndrome
Radioulnar synostosis, Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Pontocerebellar Hypoplasia, Type 4
Gliosis OMIM:225753
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Limb ataxia, Gait ataxia, Myoclonus, Tre... OMIM:137440
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Hemimegalencephaly
Optic atrophy, Gliosis ORPHA:99802
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... OMIM:301110
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Distal sensory impairment, Myelin outfoldings OMIM:615284
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia OMIM:612527
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Diffuse demyelination of the cerebral white matter, Gliosis ORPHA:168486
Diamond-Blackfan Anemia 7
Osteopenia, Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of Fallot... OMIM:612562
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cerebellar hypoplasia, Optic atrophy, Abnormal myelination, Seizure ORPHA:352682
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Axonal degeneration, Peripheral axon... OMIM:208920
Beta-Thalassemia Intermedia
Osteopenia, Abnormality of iron homeostasis, Extramedullary hematopoiesis, Persistence of hemoglo... ORPHA:231222
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Seizure, Akinesia, Tremor, Rigidity, Parkinsonism, Brady... OMIM:300894
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Spastic Paraplegia 11, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Obesity, Decreased number of peripheral myelinat... OMIM:604360
Huntington Disease-Like 1
Chorea, Gait ataxia, Dysmetria, Weight loss, Gliosis ORPHA:157941
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... ORPHA:2169
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Intrauterine growth retardation, Gliosis, Ataxia, Cerebellar gliosis, ... ORPHA:79243
Propionic Acidemia
Hyperglycinuria, Cardiomyopathy, Hypoglycemia, Pancytopenia, Hyperglycinemia, Hyperammonemia, Thr... OMIM:606054
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Impaired vibration sensation in the lower limbs, Distal sensory impai... OMIM:270550
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Rickets, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus OMIM:616026
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Abolished vibration sense, Impaired pain ... OMIM:608703
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Bicuspid aortic valve, Atrial septal defect, Decreased serum... OMIM:617744
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Atrial septal defect, Hypog... OMIM:620211
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dysmetria, Spastic ataxia, Ataxia, Onion bulb formation OMIM:614487
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Ataxia ORPHA:204
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, CNS demyelination, Gliosis, Delayed myelination, Small for gestational age OMIM:214150
Intellectual Developmental Disorder, X-Linked 12
Gliosis, Truncal obesity, Increased body mass index, Short stature, Small for gestational age OMIM:300957
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Gliosis OMIM:105550
Axial Osteomalacia
Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia OMIM:109130
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Seizure, Chorea, Gait ata... OMIM:610217
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Spastic Paraplegia 50, Autosomal Recessive
Optic disc pallor, Gliosis, Ataxia OMIM:612936
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Anemia, Perimembranous ventricula... OMIM:608104
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Gliosis, Progressive cerebellar ataxia ORPHA:275872
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Dysmetria, Axonal degeneration, Distal sensory impairment, Decreased number of peripheral myelina... OMIM:302800
Bile Acid Conjugation Defect 1
Rickets, Conjugated hyperbilirubinemia OMIM:619232
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Hypercholanemia, Familial 1
Rickets, Increased serum bile acid concentration OMIM:607748
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... ORPHA:240094
Idiopathic Non-Lupus Full-House Nephropathy
Synovitis, Elevated circulating creatinine concentration, Arthritis ORPHA:567544
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Multiple Sulfatase Deficiency
Short stature, Peripheral demyelination, CNS demyelination, Ataxia OMIM:272200
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Pick Disease Of Brain
Gliosis OMIM:172700
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes mellitus OMIM:598500
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Fanconi Renotubular Syndrome 2
Osteopenia, Generalized aminoaciduria, Rickets, Glycosuria, Osteomalacia, Hypophosphatemia, Recur... OMIM:613388
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:618838
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Metachromatic Leukodystrophy
Optic atrophy, Chorea, Peripheral demyelination, Ataxia OMIM:250100
Immunodeficiency 98 With Autoinflammation, X-Linked
Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenom... OMIM:301078
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... OMIM:615160
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Radioulnar synostosis, Limited pronation/supination of forearm, Congenital th... OMIM:616738
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... OMIM:235400
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Axonal degeneration/regeneration, Agenesis of corpus callosum, Peripheral axonal... OMIM:218000
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume... ORPHA:811
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Generalized aminoaciduria, Hypochromic anemia, Rickets, Cardiomy... ORPHA:289157
Hereditary Sensory And Autonomic Neuropathy Type 5
Pain insensitivity, Impaired temperature sensation, Decreased number of small peripheral myelinat... ORPHA:64752
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Impaired vibration sensation in the lower limbs, Decreased number of peripheral my... ORPHA:320406
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Coronal craniosynostosis, Decreased mean corpuscular volume, Increased... OMIM:616943
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Distal sensory impairment, Chronic axonal neuropathy, Impaired distal tactile sensation, Impaired... OMIM:162400
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia, Splenomegaly, Hypoglycemia ORPHA:664
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Distal sensory impairment, Peripheral hypomyelination, Demyelinating pe... OMIM:609136
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Focal-... ORPHA:289266
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Diffuse Alveolar Hemorrhage
Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia ORPHA:90060
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Delayed CNS myelination, Gliosis OMIM:614498
Postencephalitic Parkinsonism
Involuntary movements, Resting tremor, Seizure, Akinesia, Paresthesia, Cogwheel rigidity, Rigidit... ORPHA:97349
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Machado-Joseph Disease
Impaired vibratory sensation, Limb ataxia, Gliosis, Ataxia, Truncal ataxia, Progressive cerebella... OMIM:109150
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Panc... OMIM:251110
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Abnormal myelination, Seizure, Agenesis of corpus callosum ORPHA:85179
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Osteopenia, Generalized aminoaciduria, Rickets, Glycosuria, Hypophosp... ORPHA:2088
Aggressive Systemic Mastocytosis
Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased pro... ORPHA:98850
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Alzheimer Disease 3
Neurofibrillary tangles, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Babins... OMIM:607822
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Anemia OMIM:617475
Preeclampsia
Elevated circulating creatinine concentration, Type I diabetes mellitus, Thrombocytopenia ORPHA:275555
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Dpagt1-Cdg
Optic atrophy, CNS hypomyelination, Failure to thrive, Seizure, Inability to walk, Epileptic spas... ORPHA:86309
Fanconi Renotubular Syndrome 1
Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Hypokalemia, Hypophosphatemia OMIM:134600
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Hyperammonemia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Ataxia OMIM:614116
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Postprandial hyperglycemia, Rickets, Glycosuria, Osteoma... OMIM:227810
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Overweight, Gliosis ORPHA:457240
Orthostatic Hypotension 2
Anemia, Hypoglycemia OMIM:618182
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Pericarditis, Abnormal hemoglobin ORPHA:163596
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination, Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Sensory axonal neuropathy, Ataxia, Decreased number of large peripheral myelinated... OMIM:271245
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyper... OMIM:277410
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Pontocerebellar Hypoplasia, Type 2A
Optic atrophy, Chorea, Gliosis OMIM:277470
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination, Choreoathetosis, Failure t... OMIM:231670
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hypocalcemia, Hypophosph... ORPHA:93160
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Gliosis, Ataxia OMIM:256600
Molybdenum Cofactor Deficiency, Type B
Axonal loss, Peripheral demyelination, Growth delay, Gliosis OMIM:252160
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Optic atrophy, Spasticity, Pigmentary retinopathy, Akinesia, Tremor, Rigidity, Abn... OMIM:234200
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration OMIM:617243
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Propionic Acidemia
Hypoglycemia, Hyperammonemia, Cardiomyopathy ORPHA:35
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hypoglycemia, Increased total bilirubin, Elbow flexion contracture, Eleva... OMIM:608836
Multiple Myeloma
Osteopenia, Pathologic fracture, Elevated circulating creatinine concentration, Splenomegaly, Ane... ORPHA:29073
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Resting tremor, Akinesia, Rigidity, Parkinsonism, Parkinsonism with favorable res... ORPHA:411602
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:600081
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Molybdenum Cofactor Deficiency, Type A
Axonal loss, Peripheral demyelination, Growth delay, Gliosis OMIM:252150
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Optic nerve hypoplasia, Demyelinating sensory neuropathy, Somatic s... ORPHA:101085
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Absent pubertal growth spurt, Obesity, Delayed peripheral myelination, Ataxia, Short stature ORPHA:464282
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia ORPHA:289916
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur... ORPHA:157215
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Perry Syndrome
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Parkinsonism, Weight loss, Bradykinesia OMIM:168605
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, CNS hypomyelination, Gliosis OMIM:616239
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hem... ORPHA:231226
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Jo... OMIM:617052
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Failure to thrive, Facial diplegia, Distal sensory impairment, Decreased number of... ORPHA:254930
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Dent Disease 1
Delayed epiphyseal ossification, Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Sparse bone tr... OMIM:300009
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Knee flexion contracture, Axonal degeneration, Decreased number of ... OMIM:615490
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Rickets OMIM:602722
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Spastic tetraplegia, Failure to thrive, Seizure, Akinesia, Generalized tonic seizure, Hypertonia,... OMIM:619147
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Hypop... OMIM:241530
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono... ORPHA:486
Beta-Thalassemia Major
Abnormality of iron homeostasis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hem... ORPHA:231214
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Hypoglycemia, Leukopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neut... OMIM:251000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Cerebellar atrophy, Somatic sensory dysfunction, Tip-toe gait, Tong... ORPHA:466768
Supranuclear Palsy, Progressive, 1
Falls, Neurofibrillary tangles, Akinesia, Astrocytosis, Gait imbalance, Retrocollis, Tremor, Rigi... OMIM:601104
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Tre... ORPHA:240071
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Seizure, Akinesia, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:225790
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Osteomyelitis, Elevated circulating creatinine concentration, Hypocalcemia, Absc... ORPHA:36234
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Rickets, Splenomegaly, Conjugated hyperbilirubinemia OMIM:607765
Felty Syndrome
Limitation of joint mobility, Abnormal lymphocyte morphology, Splenomegaly, Synovitis, Neutropeni... ORPHA:47612
Supranuclear Palsy, Progressive, 2
Falls, Neurofibrillary tangles, Postural tremor, Gait imbalance, Akinesia, Retrocollis, Rigidity,... OMIM:609454
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperho... OMIM:614857
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Action tremor, Cone/cone-rod dystrophy, Optic disc pallor, Abnormal myelination, Generalized non-... ORPHA:404454
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Extramedullary hematopoiesis, Hyperbilirubinemia, Abnormal serum bile acid concentration... ORPHA:79303
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive ... OMIM:304790
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
Lethal Congenital Contracture Syndrome 2
Akinesia, Degenerative vitreoretinopathy OMIM:607598
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia, Joint contracture OMIM:620443
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Distal sensory impairment, Decreased number of peripheral myelinated n... OMIM:256850
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Generalized aminoaciduria, Rickets, Hypocalcemia, Sparse bone tr... OMIM:264700
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Neurofibrillary tangles, Akinesia, Rigidity, Parkinsonism, Abnormal p... OMIM:616840
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, CNS hypomyelination, Gliosis, Ataxia, Growth delay OMIM:617193
Lissencephaly, X-Linked, 2
Gliosis OMIM:300215
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Congenital Myopathy 9A
Tongue fasciculations, Akinesia, Obesity OMIM:618822
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Hepatosplenomegaly, Hypophosphatemic rickets, Hypophosphatemia, Osteoarthr... OMIM:307800
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Congenital Enterovirus Infection
Hypoalbuminemia, Cardiomyopathy, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hypera... ORPHA:292
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Type I diabetes mellitus, Rickets OMIM:560000
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Gait ... ORPHA:306682
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... ORPHA:158061
Mannosidosis, Alpha B, Lysosomal
Growth delay, Limb ataxia, Gait ataxia, Gliosis, Delayed myelination OMIM:248500
Kleefstra Syndrome Due To A Point Mutation
Short stature, Gliosis, Large for gestational age, Failure to thrive ORPHA:261652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Gout, Hyperuricemia OMIM:174000
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Rickets, Hypocalcemia, Macrocytic anemia, Iron deficiency anemia, Throm... OMIM:212750
Cystinosis
Aminoaciduria, Type I diabetes mellitus, Rickets, Hypokalemia, Hypophosphatemia ORPHA:213
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Early-Onset Autosomal Dominant Alzheimer Disease
Neurofibrillary tangles, Seizure, Myoclonus, Parkinsonism, Oculomotor apraxia, Apraxia, Hypertoni... ORPHA:1020
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Gait ataxia, CNS demyelination, Gliosis, Ataxia OMIM:620451
Leigh Syndrome
Optic atrophy, Sensory axonal neuropathy, Failure to thrive, Leukodystrophy, Chorea, Intrauterine... ORPHA:506
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Failure to thrive, Intrauterine growth retardation, Peripheral demyelination, Atax... ORPHA:79282
Mitochondrial Neurogastrointestinal Encephalomyopathy
Paresthesia, Peripheral axonal neuropathy, Cachexia, Weight loss, Demyelinating peripheral neurop... ORPHA:298
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Short stature, Gliosis, Small for gestational age OMIM:619847
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterio... OMIM:260400
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Failure to thrive, Chorea, Gait ataxia, Demyelinating peripheral neuropathy, Ataxi... ORPHA:255210
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Gliosis, Basal ganglia gliosis OMIM:604377
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Situs inversus totalis, Hypokalemia, Dextrocardia,... OMIM:613095
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Iron deficiency anemia, Hypotriglyceridemia, Decreased HDL cholestero... OMIM:618885
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Facial paralysis, Impaired pain sensation, Failure to thrive, Gait ataxia, Positiv... ORPHA:99949
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Cystathioninemia, Cystathioninuria, Elevated circulating propionylcarnitine conce... OMIM:277380
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination, Dysdiadochokinesis, Dysmetria ORPHA:171629
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Aapoaiv Amyloidosis
Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyperlipidemia, Diabe... ORPHA:439232
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Absent circulating B cells, Decreased proportion of class-switched m... OMIM:619705
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia, Thin bony cor... OMIM:277440
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Situs inversus totalis OMIM:602088
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Atrial septal defect, Dextrocardia, Neutropenia, Anemia OMIM:618067
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Elevated circulating creatinine concentration, Cardiomyopathy, Normochromic an... ORPHA:247691
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, Hyperammonemia... ORPHA:1667
Leukodystrophy, Hypomyelinating, 5
CNS hypomyelination, Onion bulb formation, Leukodystrophy OMIM:610532
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Splenomegaly, N... ORPHA:398124
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Senior-Loken Syndrome 1
Anemia, Elevated circulating creatinine concentration OMIM:266900
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Chorea, Gait ataxia, Gliosis, Ataxia OMIM:618321
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Fibrous dysplasia of the bones... ORPHA:249
Pelger-Huet Anomaly
Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Thrombocytopen... OMIM:169400
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Hypoglycemia, Atrial septal defect, Neutropenia, Joint contracture OMIM:618005
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Hypoglycemia, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentra... OMIM:618835
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Leukopenia, Neutropenia, Thrombocytopenia,... OMIM:613989
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Growth delay, Basal ganglia gliosis OMIM:614946
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia ORPHA:79477
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia OMIM:250940
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Growth delay, Gliosis ORPHA:3240
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Barth Syndrome
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Hypertrophic cardiomyopat... OMIM:302060
Dent Disease
Delayed epiphyseal ossification, Renal hypophosphatemia, Aminoaciduria, Rickets, Glycosuria, Oste... ORPHA:1652
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Hypophosphatemic rickets, Rickets OMIM:612089
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Peripheral demyelination, Dysmetria, CNS demyelination, Gliosis, Ataxia, Trunc... OMIM:220111
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hypoalbuminemia, Hypoglycemia, Lymphopenia, Abnormal lymph... ORPHA:99826
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Gout, Hyperuricemia ORPHA:79233
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Glycosuria, Rickets, Recurrent fractures OMIM:268315
Peho Syndrome
Peripheral dysmyelination, Optic atrophy OMIM:260565
Whim Syndrome 1
Neutropenia OMIM:193670
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Osteomalacia, Rick... ORPHA:289176
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Hepatosplenomegaly, Decreased circulating apolipop... ORPHA:85450
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Chorea, Dysmetria, Decreased body weight, Delayed CNS myelination, Gliosis, A... OMIM:615273
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site ORPHA:168563
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Osteoporosis ORPHA:1901
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Hyperammonemia, Neutropenia OMIM:618253
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Neurofibroma, Failure to thrive, Leukodystrophy, Intrauterine growth retardation, Obesity, Periph... OMIM:619475
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Septic arthritis, Abnormal n... OMIM:607676
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Decreased circulating carnitine concentration, Glycosuri... ORPHA:3337
X-Linked Agammaglobulinemia
Osteomyelitis, Hypocalcemia, Thrombocytopenia, Neutropenia, Anemia, Arthritis, Recurrent cutaneou... ORPHA:47
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Dyskeratosis Congenita, Autosomal Dominant 3
Osteopenia, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocyt... OMIM:613990
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Iron deficiency anemia, Rickets, Osteomalacia ORPHA:309031
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Camptodactyly of finger, Joint stiffness, Increased susceptibility to f... ORPHA:2176
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, HbH hemoglobin ORPHA:98791
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Congenital Myopathy 12
Akinesia, Small for gestational age OMIM:612540
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Hyperhomocystinemia, Ne... OMIM:275350
Mccune-Albright Syndrome
Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Pancytopenia, Fibrous dysplasia... ORPHA:562
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Glycogen Storage Disease Ib
Hypoglycemia, Gout, Splenomegaly, Hyperuricemia, Hyperlipidemia, Neutropenia, Osteoporosis OMIM:232220
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia OMIM:615387
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Lymphopenia, Autoimmune hemolytic anemia, Patent foramen ovale, Ne... OMIM:614868
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Painless fractures due to injury, Decreased number of peripheral myelinated nerve fibers OMIM:201300
Monosomy 18Q
Failure to thrive, Seizure, Slender build, Cerebellar hypoplasia, Astrocytoma, Abnormal retinal m... ORPHA:1600
Familial Acute Necrotizing Encephalopathy
Gliosis