Gene Summary

Name:
ceruloplasmin
Synonyms:
D3Ertd555e

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
decreased mean corpuscular hemoglobin concentration Cptm1b(KOMP)Wtsi HOM   Early adult 4.06×10-08
hypoalgesia Cptm1b(KOMP)Wtsi HOM   Early adult 6.08×10-05 *
decreased mean corpuscular volume Cptm1b(KOMP)Wtsi HOM   Early adult 0.00
increased heart weight Cptm1b(KOMP)Wtsi HOM Early adult 3.37×10-05
decreased circulating iron level Cptm1b(KOMP)Wtsi HOM Early adult 1.16×10-08
abnormal sleep behavior Cptm1b(KOMP)Wtsi HOM Early adult 2.27×10-05
decreased mean corpuscular hemoglobin Cptm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal sensory capabilities/reflexes/nociception Cptm1b(KOMP)Wtsi HOM Early adult 0.000711 *
decreased hemoglobin content Cptm1b(KOMP)Wtsi HOM   Early adult 1.86×10-10

Download data as:  TSV  XLS

* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.
Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes
* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote Not available
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head mesenchyme N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote Ambiguous
Thoracic vertebral cartilage condensation N/A heterozygote 100% (1 of 1)
N/A Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
thoracic vertebral cartilage condensation 1.82% (1 of 55)

Associated Images

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

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Sleep Wake

Wake state (bmp file)

15 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Adult LacZ

LacZ Images Section

30 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane... OMIM:205950
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:616860
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... ORPHA:53693
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... OMIM:603358
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... OMIM:231100
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increased serum iron, ... ORPHA:446
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge... ORPHA:79230
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis, Copper accumulation in ... ORPHA:209919
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... ORPHA:300298
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Splenomegaly, Iron deficiency anemia, Elevated... OMIM:616278
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Atransferrinemia
Atransferrinemia, Abnormality of the liver, Hypochromic anemia OMIM:209300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Abnormality of iron homeostasis,... ORPHA:848
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Decreased liv... ORPHA:231222
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis, Abnormal circulating porphyrin concentration... ORPHA:79278
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Null Syndrome
Abnormal cerebellum morphology, Ataxia, Demyelinating peripheral neuropathy, Decreased nerve cond... ORPHA:280234
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Elevated hepatic transamina... OMIM:604250
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Aceruloplasminemia
Increased circulating ferritin concentration, Ataxia, Abnormal pancreas morphology, Akinesia, Ret... ORPHA:48818
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Hepatomegaly, Splenomegaly OMIM:618852
Chronic Inflammatory Demyelinating Polyneuropathy
Spontaneous pain sensation, Motor conduction block, Sensory ataxia, Decreased nerve conduction ve... ORPHA:2932
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Periportal fibrosis, Chronic hepat... ORPHA:101330
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Cerebellar vermis atrophy, Progress... ORPHA:497764
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Segmental peripheral demyelination/rem... OMIM:601098
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Increased se... OMIM:602390
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Gliosis, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory... OMIM:604484
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Anemia, Hepatic steatosis,... OMIM:606069
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Hypochromic anemia, Pappenheimer bodies, Microcytic... OMIM:600462
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Microcyt... OMIM:618805
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase, Increased erythrocyte protoporphyrin concentration... OMIM:300752
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Sterile abscess, Hepatosplenomegaly, Throm... OMIM:604416
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased sensory nerve conduction velocity, Decreased nerve conduction v... ORPHA:206594
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Falls, Unsteady gait, Short stepp... ORPHA:240094
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Cerebellar atroph... OMIM:617672
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Abnormal motor neuron mo... DECIPHER:29
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... OMIM:609628
Hypertrophic Neuropathy Of Dejerine-Sottas
Broad-based gait, Myelin tomacula, Decreased sensory nerve conduction velocity, Sensory ataxia, S... OMIM:145900
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... OMIM:214400
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Loss of ambulation, Impaired vibratory sensation, Decreased number of ... ORPHA:101097
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic ane... OMIM:235700
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Distal sensory impairment... OMIM:606483
Aceruloplasminemia
Increased circulating ferritin concentration, Aceruloplasminemia, Anemia, Decreased serum iron OMIM:604290
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Charcot-Marie-Tooth Disease Type 4G
Gait imbalance, Loss of ambulation, Motor conduction block, Demyelinating peripheral neuropathy, ... ORPHA:99953
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Acroparesthesia, Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Progressive ga... ORPHA:208981
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Sensory ataxia, Decreased motor ner... OMIM:614895
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Spinocerebellar Ataxia Type 25
Abnormal cerebellar cortex morphology, Decreased number of large peripheral myelinated nerve fibe... ORPHA:101111
Optic Atrophy With Demyelinating Disease Of Cns
Ataxia, Optic neuritis, Optic atrophy, CNS demyelination, Peripheral demyelination OMIM:165200
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Neutropenia OMIM:251900
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Positive ferric chloride test, Hypersegmentation of neutrophil nuclei OMIM:229100
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Dista... OMIM:311070
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Ataxia, Hyperintensity of MRI T2 signal of the spinal cord, Sensory ataxia, Dec... OMIM:609033
Cog2-Cdg
Decreased liver function, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:435934
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Distal senso... OMIM:118200
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... OMIM:616689
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Cerebral atrophy, Gait disturbance, Abnormal upper motor neuron morphology, Caudate atro... OMIM:221770
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia, Hepatomegaly OMIM:613977
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Polycythemia, Cirrhosis, Elevated hepatic transaminase, H... OMIM:613280
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration, Distal sensory impairment, Steppage gait OMIM:615185
Roussy-Levy Hereditary Areflexic Dystasia
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:180800
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Microcytic anemia, Hypoa... OMIM:619013
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:118220
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Distal sensor... OMIM:608340
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Distal sensory impairment, Steppage gait OMIM:616039
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Jaundice OMIM:312500
Neuromyelitis Optica Spectrum Disorder
Neuronal loss in central nervous system, Optic neuritis, Myelitis, Somatic sensory dysfunction, P... ORPHA:71211
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Sc... OMIM:224120
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Hypoesthesia, Onion bulb formation, Decreased motor nerve conduction ... OMIM:609311
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration OMIM:121270
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Elevated hepatic transaminas... ORPHA:98870
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Broad-based gait, Positive Romberg sign, Distal sensory impairment, Optic atrophy, Gait ataxia, P... OMIM:258650
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Distal ... OMIM:607677
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Loss of ambulation, Limb at... OMIM:208920
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransfera... OMIM:257200
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Cerebellar vermis atrophy, Elevated circulating creatine kinase concentration, Dilated fo... OMIM:619054
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Abnormal lower motor neuron morpholog... ORPHA:95434
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... OMIM:613673
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Dysesthesia, Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy ORPHA:98916
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Impaired distal tactile sensation, Onion bulb formation, Decreased motor nerve conduction velocit... OMIM:607706
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia OMIM:245900
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Cerebral atrophy, Retinopathy, Pigmentary retinopathy, Neurodegeneration, Optic atrophy, ... OMIM:610951
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia OMIM:608898
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Difficulty walking, Steppage gait OMIM:618279
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:604563
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination, Pain insensitivity, Impaired tactile sensation OMIM:147530
Methionine Adenosyltransferase I/Iii Deficiency
Hypermethioninemia, Peripheral demyelination, CNS demyelination OMIM:250850
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... OMIM:610100
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Peripheral axonal neuropathy, Distal sensory impairment, Optic atrophy, Dif... OMIM:615035
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... OMIM:609260
Abetalipoproteinemia
Ataxia, Retinal degeneration, Retinopathy, Abetalipoproteinemia, CNS demyelination, Peripheral de... OMIM:200100
Familial Benign Copper Deficiency
Anemia, Decreased circulating copper concentration ORPHA:1551
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Krabbe Disease
Hydrocephalus, Decreased nerve conduction velocity, Neurodegeneration, Optic atrophy, Diffuse cer... OMIM:245200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Gait disturbance, Distal sensory impairment, Decreased nerve conduction velocity, Peripheral demy... ORPHA:99944
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Truncal ataxia, Gait disturbance, Difficulty walking, Gait ataxia ORPHA:98764
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Peripheral hypomyelination, Cerebral atrophy, Axonal degeneration, Decreased motor nerve ... OMIM:604168
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Anemia, Congenital Dyserythropoietic, Type Iiia
Anemia of inadequate production, Congenital hypoplastic anemia, Macrocytic anemia, Reduced haptog... OMIM:105600
Galloway-Mowat Syndrome 5
Brain atrophy, Ataxia, Ventriculomegaly, Peripheral demyelination OMIM:617731
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Distal sensory impairment, Peripheral demyelination, Steppage gait OMIM:607736
Multiple Sulfatase Deficiency
Hydrocephalus, Ataxia, Hepatomegaly, Retinal degeneration, Cerebral atrophy, Splenomegaly, Ventri... OMIM:272200
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... OMIM:611228
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Dista... OMIM:605588
Paraparetic Variant Of Guillain-Barré Syndrome
Impaired distal proprioception, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cir... ORPHA:465508
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Decreased number of large peripheral myelinated ... OMIM:270550
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellul... OMIM:235200
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, Hypo... OMIM:162500
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Difficulty walking, Peripheral demyelination, Axonal loss OMIM:616684
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle, Truncal ataxia, Partial absence of cerebellar vermis, Ag... OMIM:220200
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Dysmetria, Axonal degeneration, Tip-toe gait, Onion bulb formation, Decreased motor nerve conduct... OMIM:302800
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Microcytic anemia, Elevated circulating C-reactive protein concentration, Ele... OMIM:619750
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Inability to walk, Sensory ataxia, Onion bulb formation, Decreased motor nerve c... OMIM:618184
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor... OMIM:607791
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Ataxia, Elevated circulating creatine kinase concentratio... ORPHA:370022
3-Methylglutaconic Aciduria, Type V
Normochromic microcytic anemia, Microvesicular hepatic steatosis OMIM:610198
Adult Krabbe Disease
Broad-based gait, Abnormal pons morphology, Ataxia, Acroparesthesia, Abnormal medulla oblongata m... ORPHA:206448
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... OMIM:601775
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... OMIM:615550
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... OMIM:603471
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Trichohepatoenteric Syndrome 2
Cirrhosis, Chronic hepatitis, Hepatomegaly, Decreased serum iron OMIM:614602
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Abnormal cerebellum morphology, Gliosis, Ataxia, Leukodystrophy, Corpus callosum atrophy, Symmetr... OMIM:169500
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Abnormal pons morphology, Gliosis, Hepatomegaly, Delayed myelination, Microvesicular hepatic stea... OMIM:300868
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... ORPHA:231214
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia, Abnormal circulating histidine concentration ORPHA:51208
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction... OMIM:600882
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr... ORPHA:231226
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating ferritin concentration, Hepatomegaly, Micronodular cirrhosis, Jaundice, Spl... ORPHA:309854
Infantile Liver Failure Syndrome 1
Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... OMIM:615438
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Tip-toe gait, Dysmetria, Chorea, Gait ataxia, Unsteady gait, Cerebellar atrophy... ORPHA:397946
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration ORPHA:521411
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... OMIM:605285
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ataxia, Gliosis, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, CNS d... OMIM:220111
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... ORPHA:98856
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination OMIM:162600
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Atrial septal defect, Persistence of hemoglobin F, Tetralogy o... OMIM:612561
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Dilated fourth ventricle, Inferior cere... OMIM:614831
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Spinocerebellar Ataxia 1
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Chorea, Optic atrophy, Optic disc pal... OMIM:164400
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Tangier Disease
Facial diplegia, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Peripheral ... OMIM:205400
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Blue Rubber Bleb Nevus
Microcytic anemia ORPHA:1059
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Tip-toe gait ORPHA:2386
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Elevated hepatic transaminase, Hypoalbuminemia, Decreased circulating copper concentra... OMIM:242150
Boucher-Neuhauser Syndrome
Ataxia, Spinocerebellar atrophy, Retinal dystrophy, Gait ataxia, Abnormal upper motor neuron morp... OMIM:215470
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Retinal degeneration, Tip-toe gait, Macular degeneration, Impa... OMIM:604360
Srd5A3-Cdg
Elevated hepatic transaminase, Microcytic anemia ORPHA:324737
East Syndrome
Hypomagnesemia, Hypokalemia, Ataxia, Peripheral hypomyelination, Inability to walk, Peripheral ax... ORPHA:199343
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Shuffling gait, Gait ataxia, Short stepped shuffling gait ORPHA:391411
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... OMIM:612714
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia ORPHA:98773
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... OMIM:616959
Klippel-Trénaunay Syndrome
Microcytic anemia, Hepatomegaly ORPHA:90308
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Elevated circulating creatine kinase concentration, Peripher... ORPHA:101082
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia ORPHA:163596
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microcytic anemia OMIM:612379
Spinocerebellar Ataxia 25
Ataxia, Abolished vibration sense, Decreased number of peripheral myelinated nerve fibers, Cerebe... OMIM:608703
Parkinson Disease 17
Akinesia OMIM:614203
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... OMIM:605253
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:607080
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Peripheral demyelination OMIM:616733
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Charcot-Marie-Tooth Disease, Type 4B3
Brain atrophy, Decreased nerve conduction velocity, Onion bulb formation, Distal sensory impairme... OMIM:615284
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia ORPHA:27
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Abnormal upper motor neuron morphology OMIM:611637
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He... OMIM:619991
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... ORPHA:99948
Combined Oxidative Phosphorylation Deficiency 53
Elevated circulating C-reactive protein concentration, Hepatomegaly, Hypochromic microcytic anemia OMIM:619423
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Sideroblastic anemia, Thrombocytopenia OMIM:617021
Juvenile Primary Lateral Sclerosis
Gait imbalance, Spastic gait, Abnormal upper motor neuron morphology ORPHA:247604
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Distal sen... OMIM:601382
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Facial palsy OMIM:607641
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Jaundice OMIM:613839
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Cholestasis, Abnormality of the pancreas,... OMIM:222470
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Chorioretinal atrophy, Dilated fourth ventricle, Partial absence of cerebellar ver... OMIM:220220
Metachromatic Leukodystrophy
Ataxia, Gallbladder dysfunction, Decreased nerve conduction velocity, Chorea, Cholecystitis, Opti... OMIM:250100
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis OMIM:300367
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Ataxia, Severe demyelination of the white matter, Retinal degeneration, Cerebral a... ORPHA:79282
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Dermatitis Herpetiformis
Microcytic anemia ORPHA:1656
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Decreased serum iron ORPHA:391372
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Elevated circulating glutaric ac... ORPHA:66634
Glycogen Storage Disease Xii
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... OMIM:611881
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hypochromic microcytic anemia, Cholestasis, Hepatitis, Portal hyperten... ORPHA:440713
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia OMIM:618972
Autosomal Recessive Spastic Paraplegia Type 35
Cerebral cortical atrophy, Dysmetria, Pontocerebellar atrophy, Dysdiadochokinesis, Corpus callosu... ORPHA:171629
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Retinal thinning, Retinal dystrophy, Cerebellar vermis hypoplasia, Cere... OMIM:615960
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Plummer-Vinson Syndrome
Decreased circulating ferritin concentration, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:54028
Acatalasemia
Microcytic anemia ORPHA:926
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Inability to walk, Cerebral atrophy, Paucity of anterior horn motor neurons, Per... OMIM:611890
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Dysmyelinating leukodystrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Atrophy/... OMIM:612319
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis... OMIM:185000
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis, Cerebral atrophy, Axonal loss, Ventriculomegaly, Peripheral demyelination, Hypouricemia OMIM:252160
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Brain atrophy, Abnormal motor neuron mo... ORPHA:52430
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Diffuse cerebral atrophy,... ORPHA:1170
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Distal sensory impairment, Steppage gait, Axonal loss OMIM:614455
Machado-Joseph Disease Type 3
Progressive cerebellar ataxia, Degeneration of anterior horn cells, Dilated fourth ventricle, Per... ORPHA:276244
Spinocerebellar Ataxia 2
Ataxia, Progressive cerebellar ataxia, Limb ataxia, Dysmetria, Rod-cone dystrophy, Impaired vibra... OMIM:183090
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly OMIM:613561
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait OMIM:611067
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, T lymphocytopenia, Elevated hepatic transaminase, Microcytic anemia, He... ORPHA:2959
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency ORPHA:309108
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Inability to walk, Abnormality of retinal pigmentation, Brain at... ORPHA:466768
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Chronic axonal neuropathy, Hypomagnesemia, Hypokalemia, Ataxia, Peripheral hypomyelination, Dysdi... OMIM:612780
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Ataxia-Telangiectasia-Like Disorder
Ataxia, Dysmetria, Dysdiadochokinesis, Dilated fourth ventricle, Chorea, Cerebellar vermis hypopl... ORPHA:251347
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Pallor o... OMIM:602433
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Decreased number of large peripheral myelinated nerve fibers, Inability ... ORPHA:101085
Majeed Syndrome
Hepatomegaly, Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Hypochromic microcytic a... ORPHA:77297
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hemato... OMIM:259720
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi... OMIM:616649
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Diamond-Blackfan Anemia 5
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612528
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi... OMIM:182900
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Impaired vibration sensation at ank... ORPHA:90103
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Sensory axonal neuropathy, Distal sensory impairment, Decreased n... OMIM:256850
Polyglucosan Body Neuropathy, Adult Form
Peripheral axonal neuropathy, Distal sensory impairment, Gait disturbance, Abnormal upper motor n... OMIM:263570
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Ataxia, Pain insensitivity, Hepatomegaly, Microvesicular hepatic steatosis, Acute hepatic failure... OMIM:256810
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Abnormal cerebellum morphology, Optic nerve hypoplasia, Elevated circulating creat... ORPHA:370959
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Syndromic Diarrhea
Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Cirrhosis, Hypoplasia of the thymus, Abn... ORPHA:84064
Wt Limb-Blood Syndrome
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia OMIM:194350
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Immunodeficiency 89 And Autoimmunity
Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi... OMIM:619632
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait OMIM:619911
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Akinesia OMIM:618822
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia OMIM:250940
Leukodystrophy, Hypomyelinating, 5
Abnormal cerebellum morphology, Loss of ambulation, Leukodystrophy, Onion bulb formation, Decreas... OMIM:610532
Frontotemporal Dementia With Motor Neuron Disease
Gliosis, Progressive cerebellar ataxia, Abnormal lower motor neuron morphology, Degeneration of t... ORPHA:275872
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s... OMIM:300972
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia OMIM:236270
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morphology, ... ORPHA:100070
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis, Cerebral atrophy, Axonal loss, Ventriculomegaly, Peripheral demyelination, Hypouricemia OMIM:252150
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Ataxia, Retinal degeneration, Dilated fourth ventricle, C... OMIM:610688
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... OMIM:109270
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Cirrhosis, Cholecystitis, Microcytic anemia, Portal hypertension ORPHA:774
Machado-Joseph Disease
Ataxia, Gliosis, Progressive cerebellar ataxia, Limb ataxia, Impaired vibratory sensation, Dilate... OMIM:109150
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Dysmyelinating leukodystrophy, Ataxia, Demyelinating peripheral neuropat... OMIM:609136
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Macrocytic anemia, Hyperalaninemia OMIM:619046
Spinocerebellar Ataxia 21
Akinesia, Ataxia, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia OMIM:607454
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia OMIM:229050
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Sideroblastic anemia OMIM:616084
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hyperalaninemia, Increased serum pyruvate, Anemia, Hypochromic microcytic anemia OMIM:619147
Lissencephaly Type Iii And Bone Dysplasia
Akinesia OMIM:601160
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Ataxia, Cerebral atrophy, Retinal dystrophy, Difficulty walking, Delayed peripheral myelination, ... ORPHA:464282
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia OMIM:301083
H Syndrome
Histiocytosis, Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia ORPHA:168569
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy... OMIM:105550
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... ORPHA:35858
Motor Neuropathy, Peripheral, With Dysautonomia
Decreased nerve conduction velocity, Peripheral demyelination OMIM:252320
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking, Elevat... OMIM:613954
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... ORPHA:541423
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia OMIM:257790
Primary Lateral Sclerosis, Juvenile
Spastic gait, Cerebral cortical atrophy, Abnormal upper motor neuron morphology OMIM:606353
Peho Syndrome
Optic atrophy, Neuronal loss in central nervous system, Peripheral dysmyelination, Cerebellar atr... OMIM:260565
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating tyrosine concentration, Hypoargininemia, Abnormal circulating histidine conc... ORPHA:79096
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Unconjugated hyperbilirubinemia, Stomatocytosis OMIM:268150
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Lymphocytosis, Hyperbilirubinemia, Acute hepatic... ORPHA:1667
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Hypocalcemia, Ataxia, Cerebellar hypoplasia, Neurodegeneration, Optic atrophy, Ven... OMIM:618476
Neurodegeneration With Brain Iron Accumulation 4
Ataxia, Loss of ambulation, Elevated circulating creatine kinase concentration, Neurodegeneration... OMIM:614298
Corticobasal Syndrome
Gait disturbance, Akinesia ORPHA:454887
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Gliosis, Neuronal loss in central nervous system, Decreased nerve conduction velocity, Ce... OMIM:256600
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia OMIM:300946
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... OMIM:277410
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Anemia, Neutropenia OMIM:614900
Trigeminal Neuralgia
Cranial nerve compression, Somatic sensory dysfunction, CNS demyelination, Paresthesia, Periphera... ORPHA:221091
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Axonal degeneration, Peripheral axonal neuropathy, Decreased... OMIM:615490
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Combined Oxidative Phosphorylation Deficiency 24
Neuronal loss in central nervous system, Gliosis, Elevated circulating creatine kinase concentrat... OMIM:616239
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... OMIM:617948
Glutaric Acidemia I
Hepatomegaly, Delayed myelination, Elevated circulating glutaric acid concentration, Choreoatheto... OMIM:231670
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Demyelinating peripheral neuropathy, Hepatomegaly, Rod-cone dystrophy, Hepatic failure, S... ORPHA:255210
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Charcot-Marie-Tooth Disease Type 4C
Inability to walk, Demyelinating peripheral neuropathy, Sensory ataxia, Decreased motor nerve con... ORPHA:99949
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia ORPHA:293967
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Decreased sensory nerve conduction velocity, Onion bulb formation, Decreased mot... OMIM:218000
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Decreased serum zinc, Splenomegaly OMIM:201100
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Hy... ORPHA:89842
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Leukocytosis, Microcytic anemia, Anemia ORPHA:99843
Triosephosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Hemolytic anem... OMIM:615512
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Elevated circulating creatine... OMIM:606070