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 Cptm1b(KOMP)Wtsi HOM   Early adult 0.00
increased heart weight Cptm1b(KOMP)Wtsi HOM Early adult 3.46×10-05
decreased mean corpuscular volume Cptm1b(KOMP)Wtsi HOM   Early adult 0.00
hypoalgesia Cptm1b(KOMP)Wtsi HOM   Early adult 6.08×10-05 *
decreased circulating iron level Cptm1b(KOMP)Wtsi HOM Early adult 1.18×10-08
decreased mean corpuscular hemoglobin concentration Cptm1b(KOMP)Wtsi HOM   Early adult 4.06×10-08
decreased hemoglobin content Cptm1b(KOMP)Wtsi HOM   Early adult 1.86×10-10
abnormal sleep behavior Cptm1b(KOMP)Wtsi HOM Early adult 3.09×10-05
abnormal sensory capabilities/reflexes/nociception Cptm1b(KOMP)Wtsi HOM Early adult -3.28 *

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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
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 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
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.

Embryo LacZ

LacZ images wholemount

12 Images

Sleep Wake

Wake state (bmp file)

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Adult LacZ

LacZ Images Section

30 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Eye Morphology

Images Ophthalmoscopy

4 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
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Gracile Syndrome
Decreased transferrin saturation, Elevated hepatic iron concentration, Cirrhosis, Hepatic steatos... ORPHA:53693
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Cholestasis, Increased serum ... OMIM:603358
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... OMIM:231100
Neonatal Hemochromatosis
Increased serum iron, Increased circulating ferritin concentration, Congenital hepatic fibrosis, ... ORPHA:446
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Sp... OMIM:613313
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... OMIM:237800
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... ORPHA:79230
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver, Increased circulating copper concentr... ORPHA:209919
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... ORPHA:300298
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Hyperbilirubinemia, Sple... OMIM:616278
Atransferrinemia
Abnormality of the liver, Atransferrinemia, Hypochromic anemia OMIM:209300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Beta-Thalassemia
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Abnormal hemoglobin, Anemia, Cholelithi... ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... OMIM:613673
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Abnormality of iron homeostasis, Elevated hepatic iron concentration,... ORPHA:231222
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Decreased liver function, Microcytic anemia, Abnormal circulating porp... ORPHA:79278
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Candidiasis, Familial, 2
Lymphadenopathy, Hypereosinophilia, Decreased serum iron OMIM:212050
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level OMIM:206200
Aceruloplasminemia
Dystonia, Abnormality of retinal pigmentation, Aceruloplasminemia, Retinal degeneration, Elevated... ORPHA:48818
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration, Decreased circulating cerul... ORPHA:171851
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Cirrhosis, Increased ... OMIM:604250
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly OMIM:618852
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, Inability t... ORPHA:280234
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Paresthesia, Spontaneous pain sensation, Peripheral demyelination, Falls,... ORPHA:2932
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Porphyria Cutanea Tarda
Increased serum iron, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepa... ORPHA:101330
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Dista... ORPHA:497764
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Increased c... OMIM:600462
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Axonal loss, Cerebellar atrophy, Chorea, Peripheral demyelination, Neurodegeneration, A... OMIM:617672
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration, Cholelithiasis, Eleva... OMIM:300752
Hemochromatosis, Type 2A
Increased serum iron, Hepatomegaly, Splenomegaly, Cirrhosis, Increased circulating ferritin conce... OMIM:602390
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Elevated transferrin saturation, Cirrhosis, Increased circulating ferritin ... OMIM:606069
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin ORPHA:3319
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hyperlipidemia, Gliosis, Axonal degeneration, Mildly elevated creatine kinase, ... OMIM:604484
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Sterile abscess, Hepatosplenomegaly, Microcytic anemia, Pancytopenia, Elevated ci... OMIM:604416
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Gait disturbance, Axonal loss, Motor conduction block,... ORPHA:206594
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... OMIM:609628
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired proprioception, Impaired temperature sensatio... DECIPHER:29
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Hypophosphatemia, ... ORPHA:398063
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... OMIM:235700
Aceruloplasminemia
Anemia, Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron OMIM:604290
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Anemia, Abnormal circulating copper concentration OMIM:121270
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Axonal degeneration/regeneration, Steppage gait, Distal sensory impairment,... OMIM:606483
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Impaired distal proprioception, Impaired pain sensat... ORPHA:101097
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:607734
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Acroparesthesia, Progressive gait ataxia, Symmetrical progressive peripheral demyelination, Demye... ORPHA:208981
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:614895
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... ORPHA:99953
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, CNS demyelination, Peripheral demyelination, Optic neuritis, Ataxia OMIM:165200
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Elevated circulating creatine kinase concentration, Hepatomegaly, Microcytic anemia, Neutropenia OMIM:251900
Spinocerebellar Ataxia 25
Cerebellar atrophy, Impaired pain sensation, Ataxia, Abolished vibration sense, Decreased number ... OMIM:608703
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Spinocerebellar Ataxia Type 25
Impaired distal tactile sensation, Decreased number of large peripheral myelinated nerve fibers, ... ORPHA:101111
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test OMIM:229100
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... OMIM:118200
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Distal sensory impairm... OMIM:606482
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Gait disturbance, Rod-cone dystrophy, Distal sensory impairm... OMIM:311070
Cog2-Cdg
Decreased liver function, Decreased circulating copper concentration, Decreased circulating cerul... ORPHA:435934
Posterior Column Ataxia With Retinitis Pigmentosa
Impaired proprioception, Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vess... OMIM:609033
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gait disturbance, Axonal loss, Caudate atrophy, Peripheral demyelination, Gliosis, Cerebral atrop... OMIM:221770
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... OMIM:616689
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Methemoglobinemia, Anemia OMIM:613977
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia, ... OMIM:619013
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemia, Hypermanganesemia, Cirrhosis, Decrea... OMIM:613280
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, Hypermethioninemia, CNS demyelination OMIM:250850
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Dist... OMIM:180800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... OMIM:118220
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Distal sensory impairment, Axonal regeneration, Steppage gait OMIM:615185
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Choreoathetosis, Elevated circulating creatine kinase concentration, Dilated fourth ventricle, To... OMIM:619054
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Steppage gait... OMIM:608340
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Hypertrophic Neuropathy Of Dejerine-Sottas
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... OMIM:145900
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Distal sensory impairment, Steppage gait OMIM:616039
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination, Neuronal loss in central nervous system, Optic neuritis, Myelitis, Soma... ORPHA:71211
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Dist... OMIM:601098
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, Broad-... OMIM:258650
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased motor nerve conduction velocity, Distal sensory impairment, Perip... OMIM:609311
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Axonal regener... OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Steppage gait,... OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:118210
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Normochromic anemia, Hemolytic anemia, Hypertriglyceridemia OMIM:245900
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Dysesthesia, Unsteady gait, Acute demyelinating polyneuropathy ORPHA:98916
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Progressive cerebellar ataxia, Abnormal lower motor neuron morphology, T... ORPHA:95434
Insensitivity To Pain With Hyperplastic Myelinopathy
Pain insensitivity, Abnormal peripheral myelination, Impaired tactile sensation OMIM:147530
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Neurodegeneration, Ataxia, Retinopathy... OMIM:610951
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased motor nerve conduction velocity, Steppage gait, Distal sensory im... OMIM:604563
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Dystonia, Cerebellar atrophy, Decreased number of large periphera... OMIM:208920
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal sensory impairment, Mildly elevated creatine ki... OMIM:615376
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Steppage gait, Difficulty walking OMIM:618279
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Pallor of dorsal columns of the spinal c... OMIM:602433
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... OMIM:610100
Krabbe Disease
Optic atrophy, CNS demyelination, Neurodegeneration, Peripheral demyelination, Decreased nerve co... OMIM:245200
Abetalipoproteinemia
Retinal degeneration, CNS demyelination, Peripheral demyelination, Abetalipoproteinemia, Ataxia, ... OMIM:200100
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy, Steppage gait, Distal sensory ... OMIM:615035
Familial Benign Copper Deficiency
Decreased circulating copper concentration, Anemia ORPHA:1551
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Hepatitis, Decreased serum iron OMIM:614602
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Axonal loss, Peripheral demyelination, Ataxia, Difficulty walking OMIM:616684
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Axonal degenerati... OMIM:609260
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia ORPHA:228169
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Distal sensory impairment, Gait disturbance, Peripheral demyelination, Decreased nerve conduction... ORPHA:99944
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Galloway-Mowat Syndrome 5
Ataxia, Peripheral demyelination, Brain atrophy, Ventriculomegaly OMIM:617731
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Chorea, Peripheral dem... OMIM:604168
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Elev... ORPHA:465508
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal sensory impairment, Peripheral demyelination, Steppage gait, Axonal degeneration/regeneration OMIM:607736
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Po... OMIM:615234
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral demyelination, Peripheral axonal neuropathy, Impaired distal proprioception ORPHA:231445
Hemochromatosis, Type 1
Increased serum iron, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Increased ... OMIM:235200
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Decreased motor nerve conduction velocity, Gait disturbance, Axonal loss, D... OMIM:611228
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Elevated circulating aspartate aminotransfera... OMIM:257200
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:605588
Multiple Sulfatase Deficiency
Hepatomegaly, Cerebellar atrophy, Retinal degeneration, CNS demyelination, Peripheral demyelinati... OMIM:272200
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Spastic Ataxia, Charlevoix-Saguenay Type
Onion bulb formation, Decreased motor nerve conduction velocity, Decreased number of large periph... OMIM:270550
Dandy-Walker Syndrome
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Hy... OMIM:220200
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal sensory impairment, Segmental peripheral demyelination/remyelination, Axonal degeneration/... OMIM:607791
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Elevated circulating creatine kinase concentration, Cerebellar dysplasia, Dilate... ORPHA:370022
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal sensory impairment, Peripheral axonal neuropathy, Decreased number of large peripheral mye... OMIM:608673
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... OMIM:601775
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... OMIM:302800
Adult Krabbe Disease
Acroparesthesia, Abnormality of the medulla oblongata, Abnormal pons morphology, Gait disturbance... ORPHA:206448
Hepatoportal Sclerosis
Hepatocellular carcinoma, Leukopenia, Anemia, Hyperbilirubinemia, Nodular regenerative hyperplasi... ORPHA:64743
Diamond-Blackfan Anemia 12
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... OMIM:615550
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Normochromic microcytic anemia OMIM:610198
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... OMIM:603471
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia, CNS demyelination OMIM:249900
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Hypochromic microcytic anemia, Sideroblastic anemia OMIM:301310
Beta-Thalassemia Major
Hepatomegaly, Abnormality of iron homeostasis, Anisopoikilocytosis, Hepatic fibrosis, Hypochromic... ORPHA:231214
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Abnormal pons morphology, Hepatomegaly, Elevated hepatic iron concentration, Neuronal loss in cen... OMIM:300868
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia, Abnormal circulating histidine concentration ORPHA:51208
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Gliosis, Leukodystrophy, Ataxia, Corpus callosum atrophy, Abn... OMIM:169500
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hepatic fibrosis, Hypochromic microcytic anemia, Hepatocellular ... ORPHA:231226
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microcytic anemia OMIM:612379
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Decreased circulating ferritin concentration, Polycythemia, Copper accumulation in ... ORPHA:309854
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Steppage gait, Perip... OMIM:600882
Infantile Liver Failure Syndrome 1
Hepatomegaly, Macrocytic anemia, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... OMIM:615438
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration ORPHA:521411
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Dystonia, Cerebellar atrophy, Dysmetria, Leukodystrophy, Ataxia, CNS hypomyelinati... OMIM:607694
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Dysmetria, Chorea, Peripheral demyelination, Torticollis, Spastic ataxia, Tip... ORPHA:397946
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, CNS demyelination, Peripheral demyelination, Gliosis, Increased... OMIM:220111
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity OMIM:162600
Anemia, Congenital Dyserythropoietic, Type Iiia
Anemia of inadequate production, Macrocytic anemia, Congenital hypoplastic anemia, Jaundice OMIM:105600
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:605285
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... OMIM:612561
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... ORPHA:98856
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Impaired proprioception, Paresthesia, Dorsal column de... OMIM:164400
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Inferior vermis hypoplasia, Ataxia, Inab... OMIM:614831
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Tangier Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Peripheral axonal neuropathy, Impaired tem... OMIM:205400
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Blue Rubber Bleb Nevus
Microcytic anemia ORPHA:1059
Srd5A3-Cdg
Elevated hepatic transaminase, Microcytic anemia ORPHA:324737
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Gait disturbance, Axonal loss, Decreased nerve conduction velocity, Distal ... OMIM:601455
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Unsteady gait, Decreased number of peripheral myelinated nerve fibers, Tip-toe gait ORPHA:2386
East Syndrome
Peripheral axonal neuropathy, Cerebellar atrophy, Hypokalemia, Hypomagnesemia, Peripheral hypomye... ORPHA:199343
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Retinal degeneration, Spastic gait, Macular deg... OMIM:604360
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... OMIM:612714
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... OMIM:616959
Klippel-Trénaunay Syndrome
Hepatomegaly, Microcytic anemia ORPHA:90308
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Chorioretinal dystrophy, Spinocerebellar atrophy, Retinal dystrophy, Ataxia, ... OMIM:215470
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Optic atrophy, Peripheral demyelination OMIM:618237
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Elevated circulating creatine kinase con... ORPHA:101082
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Peripheral demyelination OMIM:616733
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Leukopenia, Anemia, Pancreatitis, Hyperammonemia, Thrombocytopenia ORPHA:27
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Hype... ORPHA:71275
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... OMIM:605253
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:607080
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia OMIM:619423
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Abnormal upper motor neuron morphology OMIM:611637
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Gait disturbance, Decreased nerve conduction velocity, Distal sensory impai... OMIM:615284
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination OMIM:162500
Charcot-Marie-Tooth Disease Type 4A
Motor conduction block, Impaired distal proprioception, Decreased number of large peripheral myel... ORPHA:99948
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Thrombocytopenia, Sideroblastic anemia OMIM:617021
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Abnormal lower motor neuron morphology OMIM:607641
Metachromatic Leukodystrophy
Optic atrophy, Gait disturbance, Dystonia, Gallbladder dysfunction, Chorea, Peripheral demyelinat... OMIM:250100
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
Trichohepatoenteric Syndrome 1
Increased serum iron, Hepatomegaly, Abnormality of iron homeostasis, Increased mean platelet volu... OMIM:222470
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperhomocystinemia, Hypomethioninemia, Optic atrophy, Methylmalonic acidemia, Pigmentary retinop... ORPHA:79282
Juvenile Primary Lateral Sclerosis
Spastic gait, Gait imbalance, Abnormal upper motor neuron morphology ORPHA:247604
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, D... OMIM:220220
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production OMIM:300367
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Jaundice OMIM:613839
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Pontocerebellar atrophy, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affec... ORPHA:171629
Dermatitis Herpetiformis
Microcytic anemia ORPHA:1656
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:607706
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Peripheral axonal neuropathy, Facial diplegia, Inability to walk, Abnormal anterior hor... OMIM:611890
Plummer-Vinson Syndrome
Iron deficiency anemia, Decreased circulating ferritin concentration, Hypochromic microcytic anemia ORPHA:54028
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Elevated circulating C-reactive protein concentration, Hypochromic mi... OMIM:619632
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... OMIM:601859
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Elevated circulating glutaric ac... ORPHA:66634
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Poretti-Boltshauser Syndrome
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Retinal dystrophy, Retinal thinn... OMIM:615960
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Decreased serum iron ORPHA:391372
Acatalasemia
Microcytic anemia ORPHA:926
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Hepatitis, Anemia, Cholestatic liver disease, Cholestasis, Portal ... ORPHA:440713
Giant Axonal Neuropathy 1, Autosomal Recessive
Steppage gait, Motor axonal neuropathy, Facial palsy, Sensory axonal neuropathy, Distal sensory i... OMIM:256850
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... OMIM:185000
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia OMIM:618972
Machado-Joseph Disease Type 3
Dystonia, Peripheral axonal neuropathy, Cerebellar atrophy, Dilated fourth ventricle, Degeneratio... ORPHA:276244
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia OMIM:613561
Ataxia-Telangiectasia-Like Disorder
Dystonia, Cerebellar atrophy, Dysmetria, Chorea, Dilated fourth ventricle, Ataxia, Cerebellar ver... ORPHA:251347
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Elevated circulating creatine kinase concentration, Cranial ner... ORPHA:52430
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Dystonia, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brains... OMIM:612319
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Ataxia, Cerebellar vermis atrophy, Diffu... ORPHA:1170
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Irregular myelin loops, Distal sensory impairment, Fac... OMIM:601382
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Hepatic steatosis, Microcytic anemia, Elevated hepatic transaminase, T ... ORPHA:2959
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia, Axonal loss, Peripheral demyelination, Gliosis, Ventriculomegaly, Cerebral atrophy OMIM:252160
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:614373
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Dystonia, Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Painless... OMIM:256810
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Distal sensory impairment, Axonal loss, Steppage gait OMIM:614455
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Cerebellar atrophy, Hypokalemia, Hypomagnesemia, Peripheral hypomyelination, Ataxia, Dysdiadochok... OMIM:612780
Machado-Joseph Disease
Dystonia, Cerebellar atrophy, Dilated fourth ventricle, Gliosis, Bradykinesia, Progressive cerebe... OMIM:109150
Glutaric Acidemia I
Dystonia, Hepatomegaly, Choreoathetosis, Symmetrical progressive peripheral demyelination, Elevat... OMIM:231670
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Megaloblastic anemia, Cholelithiasis ORPHA:309108
Spherocytosis, Type 2
Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... OMIM:616649
Majeed Syndrome
Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Splenom... ORPHA:77297
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Gait disturbance, Abnormality of retinal pigmentation, Abnormal peripheral myelination, Abnormal ... ORPHA:466768
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Waddling gait, Difficulty walking, Abnormal lower motor neuron morphology OMIM:611067
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... OMIM:182900
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Paresthesia, Decreased number of large peripheral myelinated nerve fiber... ORPHA:101085
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration ORPHA:3240
Syndromic Diarrhea
Hepatomegaly, Abnormality of iron homeostasis, Increased mean platelet volume, Thrombocytosis, He... ORPHA:84064
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cerebellar cyst, Elevated circulating creatine kinase concentration, Dilated fourt... ORPHA:370959
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, Bradykinesia, At... OMIM:615157
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Gait disturbance, Cerebellar atrophy, Dystonia, Elevated circulating creatine kina... OMIM:614298
Spinocerebellar Ataxia 2
Dysmetria, Dilated fourth ventricle, Bradykinesia, Rod-cone dystrophy, Progressive cerebellar ata... OMIM:183090
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia OMIM:194350
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Impaired vibration sensation at ankles, Decreased number of large peripheral myelinated nerve fib... ORPHA:90103
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Spastic gait, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Ab... OMIM:205100
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Hyperhomocystinemia, Megaloblastic anemia, Hypomethioninemia OMIM:250940
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Ret... OMIM:109270
Triosephosphate Isomerase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... OMIM:615512
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Global brain atrophy, Gliosis, Progressive cere... ORPHA:275872
Polyglucosan Body Neuropathy, Adult Form
Gait disturbance, Peripheral axonal neuropathy, Paresthesia, Distal sensory impairment, Abnormal ... OMIM:263570
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Decreased nerve conduction velocity, Myelin outfoldings, Distal sensory... OMIM:609136
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hyperhomocystinemia, Megaloblastic anemia, Hypomethioninemia OMIM:236270
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... ORPHA:86839
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morphology, ... ORPHA:100070
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Decreased motor nerve conduction velocity, Leukodystrophy, Loss of ability ... OMIM:610532
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Elevated hepatic transaminase, Thr... OMIM:300972
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Retinal dystrophy, Ataxia, Delayed peripheral myelination, Waddling gait, Cerebral atro... ORPHA:464282
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Cirrhosis, Microcytic anemia, Hepatic failure, Cholecystitis, Portal hypertension ORPHA:774
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Axonal loss, Peripheral demyelination, Gliosis, Ventriculomegaly, Cerebral atrophy OMIM:252150
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Hyperalaninemia, Hyperprolinemia, Splenomegaly, Increased serum pyruvate OMIM:619046
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Anemia, Hypochromic microcytic anemia, Hyperalaninemia OMIM:619147
H Syndrome
Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Histiocytosis ORPHA:168569
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Gliosis, Abnormal lower m... OMIM:105550
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess, Hypophosphatemia, Hypocalcemia ORPHA:89937
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomegaly OMIM:616084
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia, Jaundice OMIM:268150
Motor Neuropathy, Peripheral, With Dysautonomia
Peripheral demyelination, Decreased nerve conduction velocity OMIM:252320
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gl... OMIM:256600
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Elevated circulating creatine kinase concentration, Amyotrophic lateral sclerosis, Difficulty wal... OMIM:613954
Amyotrophic Lateral Sclerosis 21
Elevated circulating creatine kinase concentration, Amyotrophic lateral sclerosis, Decreased nerv... OMIM:606070
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating threonine concentration, Hypoargininemia, Abnormal circulating histidine con... ORPHA:79096
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia OMIM:257790
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Decreased serum zinc, Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hepat... ORPHA:541423
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volume... OMIM:277410
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Anemia of inadequate production OMIM:614900
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly OMIM:618838
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Neurodegeneration, Ventriculomegaly, Ataxia, Hydrocephalus, Cerebellar hypoplasia,... OMIM:618476
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Anisopoikilocytosis, Elevated red cell adenosine deaminase level, Stomatocytosis, Hyperuricemia, ... OMIM:102730
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia OMIM:300946
Wolcott-Rallison Syndrome
Hepatomegaly, Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonem... ORPHA:1667
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Dystonia, Hepatomegaly, Chorea, Rod-cone dystrophy, Hyperalaninemia, Ataxia, Hepat... ORPHA:255210
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Cerebellar atrophy, Elevated circulating creatine kinase concentration, Neurodegen... OMIM:616239
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Wilson Disease
Hemolytic anemia, Hepatomegaly, Hepatocellular carcinoma, Cirrhosis, Hepatic failure, High noncer... OMIM:277900
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume, Intermittent jau... OMIM:617948
Peho Syndrome
Peripheral dysmyelination, Optic atrophy, Neuronal loss in central nervous system, Cerebellar atr... OMIM:260565
Trigeminal Neuralgia
CNS demyelination, Paresthesia, Peripheral demyelination, Cranial nerve compression, Somatic sens... ORPHA:221091
Primary Lateral Sclerosis, Juvenile
Spastic gait, Cerebral cortical atrophy, Abnormal upper motor neuron morphology OMIM:606353
Mental Retardation, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar v... OMIM:617751
Machado-Joseph Disease Type 1
Dystonia, Cerebellar atrophy, Dilated fourth ventricle, Degeneration of the striatum, Progressive... ORPHA:276238
Machado-Joseph Disease Type 2
Dystonia, Cerebellar atrophy, Dilated fourth ventricle, Degeneration of the striatum, Progressive... ORPHA:276241
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia ORPHA:293967
Hamamy Syndrome
Microcytic anemia, Hypochromic anemia OMIM:611174
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Axonal degeneration, Inability to walk, Broad-based gait, Decreased... OMIM:615490
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Optic atrophy, Abnormality of the optic nerve, Cerebel... ORPHA:99949
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Ax... OMIM:218000
Leukocyte Adhesion Deficiency Type Ii
Leukocytosis, Hepatomegaly, Anemia, Neutrophilia, Microcytic anemia ORPHA:99843
Somatostatinoma
Hepatomegaly, Hypercalcemia, Hypochromic microcytic anemia, Gallbladder dysfunction, Neoplasm of ... ORPHA:97283
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Anemia, Decreased serum iron, Abnormal circulating selenium concentration, ... ORPHA:89842
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase, Bile duct proliferat... OMIM:619525
Wars2-Related Combined Oxidative Phosphorylation Defect
Athetosis, Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Rod-cone dystrophy, Ventricul... ORPHA:572798
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... ORPHA:906
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Hepatomegaly, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, C... ORPHA:98849