Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Cp MGI:88476

Gene Summary

Name:

ceruloplasmin

Synonyms:

D3Ertd555e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased mean corpuscular volume	Cp^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
decreased mean corpuscular hemoglobin concentration	Cp^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.06×10^-08
abnormal sensory capabilities/reflexes/nociception	Cp^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.000711 *
increased heart weight	Cp^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.37×10^-05
hypoalgesia	Cp^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.08×10^-05 *
decreased hemoglobin content	Cp^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.86×10^-10
abnormal sleep behavior	Cp^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.27×10^-05
decreased mean corpuscular hemoglobin	Cp^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
decreased circulating iron level	Cp^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.16×10^-08

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	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	100% (2 of 2)
Epididymis	N/A	heterozygote	50% (1 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	100% (2 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	100% (2 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	100% (2 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Olfactory lobe	N/A	heterozygote	100% (2 of 2)
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	Not available
Pancreas	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 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)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	100% (2 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	100% (2 of 2)
Submandibular gland	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thalamus	N/A	heterozygote	100% (2 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	50% (1 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
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
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	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	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
submandibular gland	0.0%
testis	0.0%
thalamus	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
urinary bladder
uterus	0.0%
vascular system	0.0%
vesicular gland	Unavailable
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	0.0%
dorsal root ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
fronto-nasal process	Ambiguous
handplate	0.0%
head	0.0%
head mesenchyme	Ambiguous
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
thoracic vertebral cartilage condensation	Ambiguous

1 Images

View images

Auditory Brain Stem Response

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

8 Images

View images

Electroretinography 2

Rod and cone PDF

1 Images

View images

Electroretinography

Rod waveform (pdf format)

1 Images

View images

Electroretinography

Cone waveform (pdf format)

1 Images

View 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.

Human diseases associated with Cp (2 diseases)
Human diseases predicted to be associated with Cp (634 diseases)

The table below shows human diseases associated to Cp by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Aceruloplasminemia		Decreased circulating iron concentration, Macular degeneration, Abnormal pancreas morphology, Inc...	ORPHA:48818
Aceruloplasminemia		Anemia, Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferri...	OMIM:604290

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

Disease	Matching phenotypes	Source
Iron Overload, Susceptibility To	Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir...	OMIM:620121
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir...	OMIM:206100
Psychogenic Movement Disorders	Gait disturbance	ORPHA:71519
Benign Hereditary Chorea	Gait disturbance	ORPHA:1429
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Anemia, Elevate...	OMIM:615234
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Gracile Syndrome	Cholestasis, Increased circulating iron concentration, Increased serum pyruvate, Increased circul...	OMIM:603358
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Ataxia-Oculomotor Apraxia Type 1	Gait disturbance, Ataxia	ORPHA:1168
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro...	OMIM:231100
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi...	ORPHA:446
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr...	OMIM:237800
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,...	ORPHA:75563
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	ORPHA:79230
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Atransferrinemia	Hypochromic anemia, Abnormality of the liver, Atransferrinemia	OMIM:209300
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r...	ORPHA:766
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc...	ORPHA:848
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Cholelithiasis, Decreased liver function, Extramedullary hematop...	ORPHA:231222
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Microcytic anemia, Abnormal circulating porphyrin conce...	ORPHA:79278
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Impaired vibratory sensation, Ataxia, Cerebellar atrophy, Cerebral atrophy, Dist...	OMIM:607250
Peroxisome Biogenesis Disorder 8B	Optic atrophy, Cerebellar atrophy, Tip-toe gait, Decreased liver function, Leukodystrophy, Cerebe...	OMIM:614877
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Hyperferritinemia With Or Without Cataract	Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc...	OMIM:600886
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
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, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Aceruloplasminemia	Decreased circulating iron concentration, Macular degeneration, Abnormal pancreas morphology, Inc...	ORPHA:48818
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Combined Oxidative Phosphorylation Deficiency 14	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Increased hepa...	OMIM:614946
Spinocerebellar Ataxia Type 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Peripheral axonal...	ORPHA:497764
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:618015
Null Syndrome	Optic atrophy, CNS hypomyelination, Difficulty walking, Inability to walk, Peripheral demyelinati...	ORPHA:280234
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop...	OMIM:212050
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine...	OMIM:618805
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Broad-based gait, Basal lamina onion bulb formation, Difficulty walking, Peripheral demyelination...	OMIM:614895
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati...	ORPHA:240094
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly,...	OMIM:606069
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:602390
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Elevated ci...	OMIM:604416
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Neurodegenera...	OMIM:617672
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos...	OMIM:615631
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos...	OMIM:235700
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, ...	OMIM:300752
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Distal sensory impairment, Axonal degeneration, Decreased number of peripheral my...	OMIM:604484
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Elevated circulating hepatic transaminase concentration, Hypo...	ORPHA:398063
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Chronic Inflammatory Demyelinating Polyneuropathy	Spontaneous pain sensation, Somatic sensory dysfunction, Falls, Difficulty walking, Peripheral de...	ORPHA:2932
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelination, Distal sensory i...	OMIM:615185
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelination, Distal sensory i...	ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Difficulty walking, Axonal degeneration/regeneration, Distal sensory impairment, Steppage gait, S...	OMIM:606483
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Paresthesia, Positive Romberg sign, Gait ataxia, Distal sensory impai...	OMIM:601098
Aceruloplasminemia	Anemia, Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferri...	OMIM:604290
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation, Cerebral atrophy, Abnormal upper motor neuron morphology, Periphera...	OMIM:221770
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Somatic sensory dysfunction, Peripheral demyelination, Axonal degeneration/regeneration, Peripher...	OMIM:620378
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Spinocerebellar Ataxia Type 25	Diffuse cerebellar atrophy, Impaired pain sensation, Gait ataxia, Distal sensory impairment, Abno...	ORPHA:101111
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired vibratory sensation, Hypertrophic nerve changes, Impaired pain sensation, Impaired tempe...	DECIPHER:29
Hypertrophic Neuropathy Of Dejerine-Sottas	Hypertrophic nerve changes, Broad-based gait, Peripheral demyelination, Myelin tomacula, Distal s...	OMIM:145900
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepa...	OMIM:619013
Congenital Disorder Of Glycosylation, Type Iiq	Decreased circulating ceruloplasmin concentration, Elevated circulating hepatic transaminase conc...	OMIM:617395
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f...	OMIM:606482
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Distal sensory impairment, Gait disturbance, Rod-cone dystrophy, Segmental periphe...	OMIM:311070
Charcot-Marie-Tooth Disease, Type 4A	Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Distal sensor...	OMIM:214400
Cog2-Cdg	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De...	ORPHA:435934
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Broad-based gait, Impaired vibration sensation in the lowe...	OMIM:609033
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Difficulty walking, Peripheral demyelination, Distal sensory impairment,...	OMIM:618279
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Sensory axonal neuropathy, Hypoplasia of the pons, Motor axonal neuropathy, Decreased number of p...	OMIM:620542
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis, Hepatomegaly	OMIM:613977
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Hypertrophic nerve changes, Peripheral demyelination, Distal sensory impairment, Decreased number...	OMIM:118200
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration	ORPHA:209981
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus...	ORPHA:232
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ...	OMIM:613280
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:614482
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Difficulty walking, Peripheral demyelination, Positive Romberg sign,...	ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli...	OMIM:118210
Charcot-Marie-Tooth Disease Type 4G	Impaired vibratory sensation, Impaired pain sensation, Difficulty walking, Peripheral demyelinati...	ORPHA:99953
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Steppage gait, Onion bulb formation, Distal sensory impairment	OMIM:616039
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Distal sensory impairment, Clusters of axonal regeneration, Decreased number of peripheral myelin...	OMIM:607734
Neuromyelitis Optica Spectrum Disorder	Myelitis, Somatic sensory dysfunction, Peripheral demyelination, Optic neuritis, Neuronal loss in...	ORPHA:71211
Roussy-Levy Hereditary Areflexic Dystasia	Hypertrophic nerve changes, Gait ataxia, Distal sensory impairment, Decreased number of periphera...	OMIM:180800
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Ane...	OMIM:224120
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Charcot-Marie-Tooth Disease, Type 4H	Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Peripheral hyp...	OMIM:609311
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:98870
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Somatic sensory dysfunction, Distal sensory impairment, Steppage gait, Decreased number of large ...	OMIM:615376
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly	OMIM:312500
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Progressive cerebellar ataxia, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Abnormal lo...	ORPHA:95434
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hypertrophic nerve changes, Distal sensory impairment, Decreased number of peripheral myelinated ...	OMIM:118220
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Glutamate Formiminotransferase Deficiency	Positive ferric chloride test, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Axonal regeneration, Steppage gait, Distal sensory impairment, Decreased number of peripheral mye...	OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of p...	OMIM:607677
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment,...	OMIM:208920
Copper Deficiency, Familial Benign	Anemia, Decreased circulating copper concentration	OMIM:121270
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Sensory axonal neuropathy, Cerebellar vermis atrophy, Dilated fourth ventricle, Elevated circulat...	OMIM:619054
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, R...	OMIM:610951
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransferase concen...	OMIM:257200
Spastic Paraplegia 55, Autosomal Recessive	Optic atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropathy, Stepp...	OMIM:615035
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin...	OMIM:613673
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy, Dysesthesia	ORPHA:98916
Spinocerebellar Ataxia Type 27	Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Truncal ataxia	ORPHA:98764
Methionine Adenosyltransferase I/Iii Deficiency	Hypermethioninemia, Peripheral demyelination, CNS demyelination	OMIM:250850
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia	OMIM:608898
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Peripheral demyelination, Distal sensory impairment, Steppage gait, Decreased number of large per...	OMIM:608340
Charcot-Marie-Tooth Disease, Type 4C	Basal lamina onion bulb formation, Difficulty walking, Abnormal cranial nerve morphology, Distal ...	OMIM:601596
Tangier Disease	Impaired pain sensation, Decreased HDL cholesterol concentration, Impaired temperature sensation,...	OMIM:205400
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Steppage gait, Impaired distal tactile sensation, Onion bulb format...	OMIM:610100
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Increased circulating ferritin concentration, Microcytic anemia, Sideroblasti...	OMIM:600462
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentration	OMIM:245900
Abetalipoproteinemia	Peripheral demyelination, Retinopathy, Abetalipoproteinemia, Retinal degeneration, CNS demyelinat...	OMIM:200100
Familial Benign Copper Deficiency	Anemia, Decreased circulating copper concentration	ORPHA:1551
Multiple Sulfatase Deficiency	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Peripheral demyelination, Splenomegaly, R...	OMIM:272200
Spinocerebellar Ataxia, Autosomal Recessive 2	Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gait ataxia, Dysmetria, Cerebel...	OMIM:213200
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Peripheral demyelination, Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment	OMIM:607736
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Impaired pain sensation, Axonal degeneration/regeneration, Decreased number of peripheral myelina...	OMIM:607706
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception	ORPHA:231445
Charcot-Marie-Tooth Disease, Type 4B2	Difficulty walking, Distal sensory impairment, Decreased number of peripheral myelinated nerve fi...	OMIM:604563
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropathy, Decre...	OMIM:617087
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Reduced haptoglobin level, Congenital hypopla...	OMIM:105600
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of p...	OMIM:609260
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Cerebral atrophy, Chorea, Peripheral demyelination, Peripheral hypomyelination, Axonal degenerati...	OMIM:604168
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology	ORPHA:3032
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Difficulty walking, Peripheral demyelination, Ataxia	OMIM:616684
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Microcytic anemia, Ele...	OMIM:619750
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula...	ORPHA:64743
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor...	OMIM:607791
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Peripheral demyelination, Gait disturbance, Distal sensory impairment	ORPHA:99944
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Leukodystrophy, Abnormal cerebellum morphology, Corpus callosum atrophy, Gliosis, Ataxia, Symmetr...	OMIM:169500
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Neuropathy, Congenital Hypomyelinating, 2	Sensory ataxia, Inability to walk, Facial diplegia, Decreased number of peripheral myelinated ner...	OMIM:618184
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli...	OMIM:605588
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag...	OMIM:220200
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, Chronic hepatic ...	ORPHA:465508
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elevated c...	ORPHA:370022
Adult Krabbe Disease	Abnormal medulla oblongata morphology, Broad-based gait, Acroparesthesia, Somatic sensory dysfunc...	ORPHA:206448
Krabbe Disease	Optic atrophy, Neurodegeneration, Peripheral demyelination, Diffuse cerebral atrophy, CNS demyeli...	OMIM:245200
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Elevated...	OMIM:271245
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Loss of ambulation, Peripheral demyelination, Gait ataxia, CNS demyelination	OMIM:249900
Megaloblastic Anemia, Folate-Responsive	Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Folate-resp...	OMIM:601775
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Difficulty walking, Axonal regeneration, Onion bulb formation, Distal sensory impairment	OMIM:608323
Spastic Ataxia, Charlevoix-Saguenay Type	Loss of Purkinje cells in the cerebellar vermis, Spastic gait, Falls, Progressive truncal ataxia,...	OMIM:270550
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis...	OMIM:615438
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Tip-toe gait, Difficulty walking, Dysmetria, Axonal degeneration, Distal sens...	OMIM:302800
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:610198
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Chorea, Peripheral demyelination, Gait ataxia...	ORPHA:397946
Dominant Beta-Thalassemia	Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi...	ORPHA:231226
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Impaired pain sensation, Distal sensory impairment, Steppage gait, Gait disturbance, Facial palsy...	OMIM:607684
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista...	OMIM:608673
Trichohepatoenteric Syndrome 2	Hepatomegaly, Decreased circulating iron concentration, Cirrhosis, Chronic hepatitis	OMIM:614602
Beta-Thalassemia Major	Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi...	ORPHA:231214
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hypoesthesia, Segmental peripheral demyelination/remyelination, Hand paresthesia	OMIM:162500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cerebral cortical atrophy, Lateral ventricle dilatation, Microvesicular hepatic steatosis, Cerebe...	OMIM:300868
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating copper concentration	ORPHA:521411
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Microcytic anemia, Hypochromic anemia	OMIM:618451
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hepati...	OMIM:603471
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog...	OMIM:612561
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal sensory impairment, Elevated circulating creatine kinase concentration, Steppage gait, Axo...	OMIM:614455
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent...	OMIM:614831
Charcot-Marie-Tooth Disease, Type 4J	Distal sensory impairment, Peripheral hypomyelination, Gait disturbance, Axonal loss, Onion bulb ...	OMIM:611228
Spastic Paraplegia 11, Autosomal Recessive	Cerebral cortical atrophy, Macular degeneration, Tip-toe gait, Impaired vibration sensation in th...	OMIM:604360
Formiminoglutamic Aciduria	Abnormal circulating histidine concentration, Anemia, Megaloblastic anemia	ORPHA:51208
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A...	ORPHA:86841
Neuropathy, Hereditary Motor And Sensory, Russe Type	Difficulty walking, Distal sensory impairment, Peripheral hypomyelination, Decreased number of la...	OMIM:605285
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation	OMIM:182815
Charcot-Marie-Tooth Disease, Type 4D	Distal sensory impairment, Gait disturbance, Impaired distal tactile sensation, Impaired distal p...	OMIM:601455
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Chorioretinal dystrophy,...	OMIM:215470
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Progressive cerebellar ataxia	ORPHA:98773
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Unsteady gait, Tip-toe gait, Decreased number of peripheral myelinated nerve fibers	ORPHA:2386
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia	ORPHA:391411
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
East Syndrome	Cerebellar atrophy, Hypomagnesemia, Difficulty walking, Inability to walk, Hyperaldosteronism, Pe...	ORPHA:199343
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Dysmetria, Spastic ataxia, Increased intramyocellular lipid droplets, Ataxia,...	OMIM:614487
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Somatic sensory dysfunction, Axonal degeneration/regeneration, Decreased number of peripheral mye...	OMIM:600882
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Srd5A3-Cdg	Microcytic anemia, Elevated circulating hepatic transaminase concentration	ORPHA:324737
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Parkinson Disease 17	Akinesia	OMIM:614203
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased serum bile ac...	OMIM:242150
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Leukodystrophy	DECIPHER:59
Charcot-Marie-Tooth Disease Type 2B1	Sensory axonal neuropathy, Inability to walk, Decreased number of large peripheral myelinated ner...	ORPHA:98856
Spinocerebellar Ataxia 25	Cerebellar atrophy, Impaired pain sensation, Decreased number of peripheral myelinated nerve fibe...	OMIM:608703
Slowed Nerve Conduction Velocity, Autosomal Dominant	Peripheral demyelination, Onion bulb formation	OMIM:608236
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Charcot-Marie-Tooth Disease, Type 4B3	Brain atrophy, Distal sensory impairment, Loss of ambulation, Gait disturbance, Onion bulb format...	OMIM:615284
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve...	ORPHA:71275
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Dilated fourth ventricle, Retinal dysplasia, Ataxia	OMIM:615771
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia, Hepatomegaly,...	OMIM:251900
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Elevated circulating hepatic transaminase concentration	OMIM:612379
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Hyperammonemia, Macrocytic anemia, Anemia, Pancreatitis, Thrombocytopenia, Hepatomegaly	ORPHA:27
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip...	OMIM:607080
Klippel-Trénaunay Syndrome	Hepatomegaly, Microcytic anemia	ORPHA:90308
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Peripheral demyelination	OMIM:616733
Primary Lateral Sclerosis, Adult, 1	Spastic gait, Abnormal upper motor neuron morphology	OMIM:611637
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination	OMIM:605253
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:185020
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia	OMIM:619423
Spinocerebellar Ataxia 1	Impaired vibratory sensation, Optic atrophy, Impaired pain sensation, Spinocerebellar tract degen...	OMIM:164400
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Juvenile Primary Lateral Sclerosis	Spastic gait, Abnormal upper motor neuron morphology, Gait imbalance	ORPHA:247604
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos...	OMIM:301310
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Chorea, Paresthesia, Dysmetria, Peripheral hypomyeli...	ORPHA:48431
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro...	OMIM:222470
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin	ORPHA:98791
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Charcot-Marie-Tooth Disease Type 1B	Peripheral dysmyelination, Peripheral axonal neuropathy, Somatic sensory dysfunction, Elevated ci...	ORPHA:101082
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Microcytic anemia, Elevated circulating creatine kinase concentration, Methylmalonic acidemia	OMIM:612073
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Reduced haptoglobin level, ...	OMIM:611881
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Foxp1 Syndrome	Decreased circulating iron concentration	ORPHA:391372
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated c...	OMIM:617093
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce...	ORPHA:66634
Plummer-Vinson Syndrome	Iron deficiency anemia, Decreased circulating ferritin concentration, Hypochromic microcytic anemia	ORPHA:54028
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an...	ORPHA:440713
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Elevated circulating ...	ORPHA:79282
Charcot-Marie-Tooth Disease Type 4A	Impaired pain sensation, Inability to walk, Decreased number of large peripheral myelinated nerve...	ORPHA:99948
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Distal sensory impairment, Peripheral hypomyelination	OMIM:616287
Charcot-Marie-Tooth Disease, Type 4B1	Irregular myelin loops, Facial palsy, Distal sensory impairment, Myelin outfoldings	OMIM:601382
Acatalasemia	Microcytic anemia	ORPHA:926
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Peripheral demy...	ORPHA:171629
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Optic atrophy, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Dilated fourth ventricle, ...	OMIM:620428
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Methylmalonic ac...	OMIM:236270
Autoimmune Lymphoproliferative Syndrome	Splenomegaly, Autoimmune hemolytic anemia, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:601859
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Sensory axonal neuropathy, Amyotrophic lateral sclerosis, Cranial nerve compression, Hepatic stea...	ORPHA:52430
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Poretti-Boltshauser Syndrome	Cerebellar vermis hypoplasia, Retinal thinning, Cerebellar dysplasia, Dilated fourth ventricle, R...	OMIM:615960
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Chorioretinal atrophy, Hydrocephalus, Partial absence of cerebellar ver...	OMIM:220220
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Cerebral atrophy, Difficulty walking, Inability to walk, ...	OMIM:611890
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Optic atrophy, Cerebellar atrophy, Difficulty walking, Neurodegeneration, Dysmetria, Atrophy/Dege...	OMIM:612319
Metachromatic Leukodystrophy	Optic atrophy, Chorea, Peripheral demyelination, Cholecystitis, Gallbladder dysfunction, Gait dis...	OMIM:250100
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration	OMIM:613561
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Machado-Joseph Disease Type 3	Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration, Dilated fou...	ORPHA:276244
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis, Megaloblastic anemia	ORPHA:309108
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait	OMIM:611067
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepatic steatosis, T ...	ORPHA:2959
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourth ventricle, Gait ataxia, Dysmetria, ...	ORPHA:1170
Dermatitis Herpetiformis	Microcytic anemia	ORPHA:1656
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Majeed Syndrome	Leukocytosis, Splenomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Hepatom...	ORPHA:77297
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Cerebellar atrophy, Spinocerebellar tract degeneration, Dilated fou...	OMIM:183090
Molybdenum Cofactor Deficiency, Type B	Hypouricemia, Ventriculomegaly, Cerebral atrophy, Peripheral demyelination, Diffuse cerebral atro...	OMIM:252160
Ataxia-Telangiectasia-Like Disorder	Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ventricle, Gait ataxia, ...	ORPHA:251347
Congenital Myopathy 9A	Akinesia	OMIM:618822
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Extramedullary hematopoiesis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopen...	OMIM:259720
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Giant Axonal Neuropathy 1, Autosomal Recessive	Sensory axonal neuropathy, Lateral ventricle dilatation, Abnormal cerebellum morphology, Distal s...	OMIM:256850
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration	ORPHA:3240
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Akinesia, Freezing of gait	OMIM:619911
Progressive Non-Fluent Aphasia	Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormal lower motor ne...	ORPHA:100070
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Lateral ventricle dilatation, Symmetrical progr...	OMIM:231670
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Ventriculomegaly, Hypoplasia of the pons, Dilated fourth ventricle, Abnormal cereb...	ORPHA:370959
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Frontotemporal Dementia With Motor Neuron Disease	Global brain atrophy, Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphol...	ORPHA:275872
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Optic nerve hypoplasia, Demyelinating sensory neuropathy, Somatic s...	ORPHA:101085
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula...	ORPHA:86839
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Spinocerebellar Ataxia 21	Akinesia, Limb ataxia, Gait ataxia, Ataxia, Progressive cerebellar ataxia	OMIM:607454
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Hypomagnesemia, Hyperaldosteronism, Peripheral hypomyelination, Hypokalemia, ...	OMIM:612780
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Cerebellar atrophy, Somatic sensory dysfunction, Mixed demyelinatin...	ORPHA:466768
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Molybdenum Cofactor Deficiency, Type A	Hypouricemia, Ventriculomegaly, Cerebral atrophy, Peripheral demyelination, Gliosis, Axonal loss	OMIM:252150
Syndromic Diarrhea	Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ...	ORPHA:84064
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Joubert Syndrome 6	Hepatic fibrosis, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Chorioretinal c...	OMIM:610688
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Difficulty walking, Axonal degeneration, Abnormal lower motor neur...	OMIM:602433
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Paresthesia, Distal sensory impairment, Peripheral axonal...	OMIM:263570
Trigeminal Neuralgia	Somatic sensory dysfunction, Cranial nerve compression, Peripheral demyelination, Paresthesia, CN...	ORPHA:221091
Immunodeficiency 89 And Autoimmunity	Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi...	OMIM:619632
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Anemia, Reticulocytopenia, Hyperhomocystin...	OMIM:275350
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Cerebral atrophy, Hepatosplenomegaly, Peripheral demyelination, Portal hypertension, Distal senso...	OMIM:609136
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased serum pyruvate	OMIM:619046
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Anemia, Increased serum pyruvate, Hyperalaninemia, Hypochromic microcytic anemia	OMIM:619147
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Gliosis,...	OMIM:105550
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Cerebral atrophy, Difficulty walking, Delayed peripheral myelination, Ataxia, Unsteady gait, Reti...	ORPHA:464282
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Machado-Joseph Disease	Impaired vibratory sensation, Cerebellar atrophy, Spinocerebellar tract degeneration, Dilated fou...	OMIM:109150
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Corticobasal Syndrome	Akinesia, Gait disturbance	ORPHA:454887
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis	OMIM:616084
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration	OMIM:620306
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Difficulty walking, Amyotrophic lateral sclerosis, Elevat...	OMIM:613954
Peho Syndrome	Peripheral dysmyelination, Optic atrophy, Cerebellar atrophy, Neuronal loss in central nervous sy...	OMIM:260565
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Histiocytosis, Hypertriglyceridemia	ORPHA:168569
Spinocerebellar Ataxia, Autosomal Recessive 33	Broad-based gait, Dilated fourth ventricle, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia	OMIM:620208
Primary Lateral Sclerosis, Juvenile	Loss of ambulation, Abnormal upper motor neuron morphology, Spastic gait, Cerebral cortical atrophy	OMIM:606353
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-...	OMIM:620481
Barth Syndrome	Elevated monolysocardiolipin/cardiolipin ratio, Cyclic neutropenia, Hypochromic microcytic anemia...	OMIM:302060
Autosomal Dominant Hypophosphatemic Rickets	Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia	ORPHA:89937
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Cerebellar atrophy, Neurodegeneration, Motor axonal neuropathy, Elevated circulati...	OMIM:614298
Von Willebrand Disease	Microcytic anemia, Thrombocytopenia	ORPHA:903
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Wolcott-Rallison Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	ORPHA:1667
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly, Elevated circulating creatine kinase concentration	OMIM:618838
Autoimmune Lymphoproliferative Syndrome, Type Iia	Splenomegaly, Autoimmune hemolytic anemia, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Axonal regeneration, Distal sensory impairment, Decreased number of peripheral myelinated nerve f...	OMIM:607831
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Cerebral atrophy, Amyotrophic lateral sclerosis	OMIM:105500
Leukodystrophy, Hypomyelinating, 5	CNS hypomyelination, Leukodystrophy, Abnormal cerebellum morphology, Loss of ambulation, Onion bu...	OMIM:610532
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia, Jaundice, Stomatocytosis, Hemolytic anemia	OMIM:268150
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Hepatic failure, Pigmentary retinopathy, Chorea, Gait ataxia, Low plasma citrullin...	ORPHA:255210
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Difficulty walking, Inability to walk, Waddling gait	ORPHA:2590
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Microcytic anemia	ORPHA:293967
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Ventriculomegaly, Inability to walk, Facial diplegia, Axonal degeneration/regeneration, Periphera...	OMIM:218000
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ...	OMIM:277410
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Cerebellar atrophy, Impaired pain sensation, Facial paralysis, Abnormal optic nerv...	ORPHA:99949
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Broad-based gait, Inability to walk, Axonal degeneration, Decreased number of peripheral myelinat...	OMIM:615490
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating arginine concentration, Abnormal circulating glycine concentration, Abnormal...	ORPHA:79096
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Decreased serum zinc	OMIM:201100
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Cerebral atrophy, Ataxia	OMIM:614116
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Microcyt...	OMIM:619525
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Leukocytosis, Anemia, Neutrophilia, Hepatomegaly	ORPHA:99843
Machado-Joseph Disease Type 1	Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration, Dilated fou...	ORPHA:276238
Machado-Joseph Disease Type 2	Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration, Dilated fou...	ORPHA:276241
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Macrocytic anemia, Prolonged neon...	OMIM:615512
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Abnormality of the liver, Pancytopenia, Hypomethioninemia, Mac...	ORPHA:2169
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exo...	OMIM:557000
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Gliosis, Neuronal loss in...	OMIM:256600
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Gait ataxia, Impaired vibration sen...	ORPHA:90103
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Difficulty walking, Impaired vibration sensation in the lower limbs, Decreased num...	ORPHA:320406
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Ne...	OMIM:614857
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Ziegler-Huang Syndrome	Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Shuffling gait, Akinesia, Gait ataxia, Ataxia, Dysdiadochokinesis	ORPHA:247234
Amyotrophic Lateral Sclerosis 21	Amyotrophic lateral sclerosis, Abnormal upper motor neuron morphology, Distal sensory impairment,...	OMIM:606070
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis	OMIM:616437
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Somatostatinoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Intermittent jaundice, Gallbladder dysfunctio...	ORPHA:97283
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Jaundice	OMIM:250940
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Difficulty walking, Inability to walk, Facial diplegia, Distal sensory impairment,...	ORPHA:254930
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ventricle dilatation,...	ORPHA:572798
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:613443
Hamamy Syndrome	Microcytic anemia, Hypochromic anemia	OMIM:611174
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Anemia, Iron deficiency anemia, Thrombocytosis, Hepatomegaly, Hypoproteinemia	OMIM:226300
Perry Syndrome	Short stepped shuffling gait, Akinesia	OMIM:168605
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Intellectual Developmental Disorder, Autosomal Dominant 48	Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ...	OMIM:617751
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Cerebellar vermis hypoplasia, Elevated circulating hepatic tra...	OMIM:212065
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of Fallot, Macrocytic...	OMIM:612562
Manganese Poisoning	Akinesia, Gait disturbance	ORPHA:306682
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Elevated circulating hepatic transaminase concentration, Neurofibroma, Tip-toe ...	OMIM:619475
Blue Rubber Bleb Nevus	Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Kufor-Rakeb Syndrome	Akinesia, Gait disturbance, Ataxia	OMIM:606693
Classic Progressive Supranuclear Palsy Syndrome	Akinesia, Gait imbalance, Falls	ORPHA:240071
Mitochondrial Complex I Deficiency, Nuclear Type 28	Truncal ataxia, Akinesia, Choreoathetosis	OMIM:618249
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Paresthesia, Peripheral axonal neuropath...	ORPHA:298
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Peripheral demyelination, Hyperammonemia, Dysmetria, Microvesicular...	OMIM:220111
Neurodegeneration With Brain Iron Accumulation 5	Akinesia	OMIM:300894
Cockayne Syndrome A	Optic atrophy, Pigmentary retinopathy, Ventriculomegaly, Cerebellar atrophy, Retinal pigment epit...	OMIM:216400
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration, Increased i...	OMIM:255125
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia	ORPHA:514
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Lateral ventricle dilatation, Dilated fourth ventricle, Cerebellar hypoplasia, Bra...	ORPHA:3078
Autosomal Recessive Cutis Laxa Type 2A	Cerebellar vermis hypoplasia, Inability to walk, Cerebellar malformation, Dilated fourth ventricl...	ORPHA:357058
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Broad-based gait, Painless fractures due to injury, Cholestasis, Acute hepatic failure, Hepatic s...	OMIM:256810
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenital thrombocytop...	OMIM:618886
Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Motor axonal neuropathy, At...	ORPHA:35689
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Anemia, Me...	OMIM:277380
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblastic anemia	ORPHA:2575
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C...	ORPHA:470
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Unconjugated hyperbilirubinemia, Pancytopenia, Leukopen...	ORPHA:447
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Slc39A8-Cdg	Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration	ORPHA:468699
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Distal sensory impairment, Chronic axonal neuropathy, Impaired distal tactile sensation, Impaired...	OMIM:162400
Shwachman-Diamond Syndrome	Normocytic anemia, Hypoamylasemia, Elevated circulating hepatic transaminase concentration, Aplas...	ORPHA:811
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Atrial septal defect, Persistence of hemoglobin F	OMIM:619769
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Thrombocytopenia, Normochromic anemia, Elevated circulating creatine kinase conce...	OMIM:618775
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Hepatosplenome...	OMIM:610377
Neuromuscular Oculoauditory Syndrome	Sensory axonal neuropathy, Retinal pigment epithelial mottling, Peripheral hypomyelination, Eleva...	OMIM:618733
Asparagine Synthetase Deficiency	Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Hypoasparaginemia, Hypop...	OMIM:615574
Infantile-Onset X-Linked Spinal Muscular Atrophy	Abnormal anterior horn cell morphology, Mildly elevated creatine kinase, Degeneration of anterior...	ORPHA:1145
Amyotrophic Lateral Sclerosis 2, Juvenile	Tip-toe gait, Amyotrophic lateral sclerosis, Difficulty walking, Abnormal upper motor neuron morp...	OMIM:205100
Birk-Aharoni Syndrome	Macrocytic anemia	OMIM:620071
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Iron deficiency anemia	OMIM:607906
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased HDL cholesterol concentration,...	OMIM:256040
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hepatitis, Macrocytic anemia, Hyperuricemia, Hyponatremia, Eosinophilia, Hyper...	ORPHA:199299
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac...	OMIM:617052
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Leukocytosis, Hypocalcemia, Splenomegaly, Hypophosphatemia, Hepatomegaly, Hyp...	ORPHA:289157
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Diamond-Blackfan Anemia 11	Neutropenia, Anemia of inadequate production	OMIM:614900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat...	ORPHA:247691
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Lissencephaly Due To Tuba1A Mutation	Cerebellar vermis hypoplasia, Dilated fourth ventricle, Ventriculomegaly, Optic nerve hypoplasia	ORPHA:171680
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia	OMIM:616840
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology	ORPHA:1332
Monosomy 22	Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia	ORPHA:96123
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Shwachman-Diamond Syndrome 2	Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Throm...	OMIM:617941
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Sickle Cell Disease	Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell...	OMIM:603903
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Decreased serum thromboxane B2, Decreased circulating 12-HETE, Iron deficiency anemia, Abnormal c...	OMIM:618372
Methylmalonic Acidemia With Homocystinuria Type Cblf	Elevated circulating palmitoleylcarnitine concentration, Reduced number of intrahepatic bile duct...	ORPHA:79284
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Abnormal upper motor neuron morphology, Gait ataxia, Gait disturban...	OMIM:601162
Congenital Myopathy 12	Akinesia	OMIM:612540
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Cerebral atrophy, Peripheral dysmyelination, Splenomegaly,...	OMIM:133540
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site, Steppag...	ORPHA:168563
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:208085
Fetal Akinesia Deformation Sequence	Akinesia	ORPHA:994
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Autoimmune Polyendocrine Syndrome, Type Ii	Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic hepatiti...	OMIM:269200
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
Vexas Syndrome	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia	OMIM:301054
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Thrombocytopenia, Ventricular septal d...	ORPHA:261250
Celiac Disease, Susceptibility To, 1	Elevated circulating hepatic transaminase concentration, Hypocalcemia, Macrocytic anemia, Iron de...	OMIM:212750
Dyskeratosis Congenita, Autosomal Dominant 1	Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An...	OMIM:127550
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Hypomagnesem...	ORPHA:37042
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology	OMIM:607225
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Persistence of hemoglobin F, Pancytopenia, Hepatomegaly, Acute myeloid leuke...	OMIM:260400
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Granulocytopenia, Macrocytic anemia	OMIM:606164
Postencephalitic Parkinsonism	Akinesia	ORPHA:97349
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosi...	ORPHA:227990
Vipoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Intermittent jaundice, Hypokalemia, Neoplasm ...	ORPHA:97282
Anterior Cutaneous Nerve Entrapment Syndrome	Leukocytosis, Allodynia	ORPHA:51890
Meckel Syndrome, Type 10	Malformation of the hepatic ductal plate, Dilated fourth ventricle, Dandy-Walker malformation, Ce...	OMIM:614175
Zaki Syndrome	Cerebellar vermis hypoplasia, Dilated fourth ventricle, Spastic gait, Unsteady gait, Patent ductu...	OMIM:619648
Imerslund-Grasbeck Syndrome 2	Anemia, Megaloblastic anemia	OMIM:618882
Cartilage-Hair Hypoplasia	Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge...	OMIM:250250
Hereditary Sensory And Autonomic Neuropathy Type 5	Pain insensitivity, Impaired temperature sensation, Decreased number of small peripheral myelinat...	ORPHA:64752
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Syringomyelia, Broad-based gait, Distal sensory impairment, Decreased number of peripheral myelin...	ORPHA:477817
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Hypotriglyceridemia, Iron deficiency anemia, Decreased HDL cholestero...	OMIM:618885
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso...	OMIM:618278
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,...	ORPHA:456312
Hereditary Folate Malabsorption	Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Cerebellar vermis hypoplasia, CNS hypomyelination, Optic disc hypoplasia, Dilat...	OMIM:619306
Diamond-Blackfan Anemia 10	Anemia, Steroid-responsive anemia, Reticulocytopenia, Macrocytic anemia	OMIM:613309
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,...	ORPHA:97214
Waldenström Macroglobulinemia	Normocytic anemia, Leukemia, Splenomegaly, Hepatomegaly, Abnormality of neutrophils	ORPHA:33226
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia	OMIM:613990
Arima Syndrome	Hepatic fibrosis, Cerebellar vermis hypoplasia, Optic atrophy, Chorioretinal coloboma, Dilated fo...	OMIM:243910
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosi...	ORPHA:227982
Progressive Multifocal Leukoencephalopathy	Somatic sensory dysfunction, Paresthesia, Gait ataxia, Dysmetria, CNS demyelination, Abnormal oli...	ORPHA:217260
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Akinesia	ORPHA:411602
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia	ORPHA:98673
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Distal sensory i...	ORPHA:99956
Japanese Encephalitis	Hyponatremia, Paucity of anterior horn motor neurons, Abnormal pons morphology, Facial palsy, Cho...	ORPHA:79139
Thymoma	Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis	ORPHA:99867
Glucagonoma	Intrahepatic cholestasis, Acanthocytosis, Neoplasm of the pancreas, Intermittent jaundice, Hepato...	ORPHA:97280
Acquired Von Willebrand Syndrome	Normocytic anemia, Hypochromic anemia, Refractory anemia	ORPHA:99147
Lead Poisoning	Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, Increased LDL cholester...	ORPHA:330015
Adenohypophysitis	Hyponatremia, Normochromic anemia	ORPHA:95512
Supranuclear Palsy, Progressive, 2	Akinesia, Gait imbalance, Falls	OMIM:609454
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Abnormal lower motor neuron morphology	ORPHA:93941
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Hypoplasia of the pons, Retinal coloboma, Dilated fourth ventricle, Cerebellar hypoplasia, Optic ...	OMIM:300749
Acute Adrenal Insufficiency	Normocytic anemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulatin...	ORPHA:95409
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Optic neuropathy, Onion bulb formation, Distal sensory impairment	ORPHA:320375
Gaucher Disease, Perinatal Lethal	Akinesia	OMIM:608013
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Panhypophysitis	Hyponatremia, Normochromic anemia	ORPHA:95513
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:304150
Choreoacanthocytosis	Impaired vibratory sensation, Cerebral cortical atrophy, Falls, Lateral ventricle dilatation, Ele...	ORPHA:2388
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Painless fractures due to injury, Decreased number of peripheral myelinated nerve fibers	OMIM:201300
Peutz-Jeghers Syndrome	Iron deficiency anemia, Bile duct polyp, Neoplasm of the pancreas, Biliary tract abnormality	OMIM:175200
Addison Disease	Normocytic anemia, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hyponatremia, Hyperka...	ORPHA:85138
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cystathioninemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Thro...	OMIM:277400
Pituitary Apoplexy	Hyponatremia, Normochromic anemia	ORPHA:95613
Spinal Cord Injury	Hypercalcemia, Allodynia	ORPHA:90058
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Brain abscess, Liver abscess	ORPHA:2038
15Q11.2 Microdeletion Syndrome	Dilated fourth ventricle, Ataxia	ORPHA:261183
Supranuclear Palsy, Progressive, 1	Akinesia, Gait imbalance, Falls	OMIM:601104
Kearns-Sayre Syndrome	Sideroblastic anemia	OMIM:530000
Bohring-Opitz Syndrome	Hyperechogenic pancreas, Abnormal optic nerve morphology, Dandy-Walker malformation, Delayed peri...	OMIM:605039
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration, Iron defi...	ORPHA:100075
Lesch-Nyhan Syndrome	Megaloblastic anemia, Hyperuricemia	OMIM:300322
Diaphanospondylodysostosis	Abnormal liver lobulation	OMIM:608022
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Non-Functioning Pituitary Adenoma	Anemia of inadequate production	ORPHA:91349
Complex Regional Pain Syndrome	Allodynia	ORPHA:83452
Neurodegeneration With Brain Iron Accumulation 1	Akinesia, Gait disturbance, Choreoathetosis, Ataxia	OMIM:234200
Arthrogryposis Multiplex Congenita 5	Akinesia	OMIM:618947
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypoglycinemia, Megaloblastic anemia, Hyposerinemia	ORPHA:79351
Sheehan Syndrome	Hyponatremia, Normochromic anemia	ORPHA:91355
Narcolepsy 3	Narcolepsy	OMIM:609039
Ciliary Dyskinesia, Primary, 53	Cerebellar vermis hypoplasia, Abdominal situs inversus, Polysplenia, Dilated fourth ventricle, Hy...	OMIM:620642
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Spastic gait, Basal lamina onion bulb formation, Demyelinating peripheral neuropathy	ORPHA:2821
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Polysplenia	OMIM:614294
Acute Transverse Myelitis	Decreased circulating copper concentration	ORPHA:139417
Sarcoidosis	Hepatic failure, Decreased liver function, Hemolytic anemia, Leukopenia, Portal hypertension, Inc...	ORPHA:797
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Lymphopenia, Leukopenia, Chronic hepatitis, Decreased propo...	ORPHA:289390
Dpagt1-Cdg	Inability to walk, Akinesia, Ataxia	ORPHA:86309
Narcolepsy 1	Narcolepsy	OMIM:161400
Revesz Syndrome	Macrocytic anemia, Aplastic anemia, Neutropenia	OMIM:268130
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Elevated circulating creatinine con...	OMIM:223900
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Elevated amniotic fluid alpha-fetoprotein, Accessory sp...	OMIM:249000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Decreased circulating iron concentration	ORPHA:438213
Mosaic Trisomy 9	Asplenia, Abnormal liver lobulation	ORPHA:99776
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Abnormal circulating selenium concentration, Iron deficiency anemia, Decreased serum zinc, Anemia...	ORPHA:79408
Narcolepsy 7	Narcolepsy	OMIM:614250
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Extrahepatic cholestasi...	ORPHA:100078
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Hypochromic anemia, Leukocytosis, Thrombocytosis	OMIM:618213
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Alkaptonuria	Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Mitral stenos...	ORPHA:56
Pudendal Neuralgia	Allodynia	ORPHA:60039
Neurocardiofaciodigital Syndrome	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Dilated fourth ventricle, Optic disc ...	OMIM:619869
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Iron deficiency anemia	ORPHA:309031
Neurotrophic Keratopathy	Allodynia	ORPHA:137596
Insensitivity To Pain, Congenital, With Anhidrosis	Pain insensitivity, Decreased number of small peripheral myelinated nerve fibers	OMIM:256800
Gitelman Syndrome	Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia, Neoplasm of t...	ORPHA:358
Degcags Syndrome	Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Leukopenia, Anemia, Abnormal s...	OMIM:619488
Orofaciodigital Syndrome Type 14	Dilated third ventricle, Retinal coloboma, Dilated fourth ventricle, Abnormal myelination, Patent...	ORPHA:434179
African Trypanosomiasis	Difficulty walking, Akinesia, Abnormality of circulating cortisol level, Gait disturbance, Choreo...	ORPHA:3385
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Pancreatitis, Splenic cyst	OMIM:620371
Ogden Syndrome	Polycythemia, Hyperbilirubinemia, Microvesicular hepatic steatosis, Iron deficiency anemia, Throm...	OMIM:300855
Wrinkly Skin Syndrome	High nonceruloplasmin-bound serum copper	ORPHA:2834
Benign Schwannoma	Allodynia	ORPHA:252164
Fanconi Anemia	Abnormality of the liver, Leukopenia, Thrombocytopenia, Anemia, Pyridoxine-responsive sideroblast...	ORPHA:84
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Elevated circulating thymidine concentration, Al...	OMIM:603041
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cerebellar vermis hypoplasia, Ventriculomegaly, Difficulty walking, Dilated fourth ventricle, Cer...	ORPHA:480880
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Narcolepsy	OMIM:604121
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Hepatoblastoma, Iron deficiency anemia	ORPHA:261584
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating creatinine concentration, Reduced hematocrit, Elevated ci...	ORPHA:91500
Niemann-Pick Disease Type C	Narcolepsy, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Bone-marrow foam cells	ORPHA:646
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia	ORPHA:93315
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Delayed peripheral myelination	ORPHA:364577
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Narcolepsy	ORPHA:314404
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Narcolepsy, Hyperlipidemia	ORPHA:293987
Pmm2-Cdg	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Reduc...	ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cp

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cp.

There are 27 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Discovery and validation of genes driving drug-intake and related behavioral traits in mice.	Genes, brain, and behavior (January 2024)	Cp^{tm1b(KOMP)Wtsi}	PMC10780947
Deletion of Carboxypeptidase E in β-Cells Disrupts Proinsulin Processing but Does Not Lead to Spontaneous Development of Diabetes in Mice.	Diabetes (September 2023)	Cpe^{tm1c(EUCOMM)Hmgu} Cpe^{tm1a(EUCOMM)Hmgu}	37364047
The expression of ceruloplasmin in astrocytes is essential for postnatal myelination and myelin maintenance in the adult brain.	Glia (June 2023)	Cp^{tm1c(KOMP)Wtsi} Cp^{tm1a(KOMP)Wtsi}	37269227
Antitumor T-cell function requires CPEB4-mediated adaptation to chronic endoplasmic reticulum stress.	The EMBO journal (March 2023)	Cpeb4^{tm1c(EUCOMM)Wtsi} Cpeb4^{tm1d(EUCOMM)Wtsi}	PMC10152139
Macrophage inflammation resolution requires CPEB4-directed offsetting of mRNA degradation.	eLife (April 2022)	Cpeb4^{tm1c(EUCOMM)Wtsi} Cpeb4^{tm1d(EUCOMM)Wtsi}	PMC9094754
Targeting fatty acid β-oxidation impairs monocyte differentiation and prolongs heart allograft survival.	JCI insight (April 2022)	Cpt1a^{tm1a(EUCOMM)Hmgu}	PMC9057610
Immune translational control by CPEB4 regulates intestinal inflammation resolution and colorectal cancer development.	iScience (January 2022)	Cpeb4^{tm1c(EUCOMM)Wtsi} Cpeb4^{tm1d(EUCOMM)Wtsi}	PMC8859527
Ceruloplasmin deletion in myelinating glial cells induces myelin disruption and oxidative stress in the central and peripheral nervous systems.	Redox biology (August 2021)	Cp^{tm1a(KOMP)Wtsi}	PMC8408659
Identification of dynamic RNA-binding proteins uncovers a Cpeb4-controlled regulatory cascade during pathological cell growth of cardiomyocytes.	Cell reports (May 2021)	Cpeb4^{tm1a(EUCOMM)Wtsi}	33979607
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Cpgi11865^{tm1.1(NCC)WCS} Cpgi1230^{tm1.1(NCC)WCS} Cpgi13101^{tm1.1(NCC)WCS} Cpgi13569^{tm1.1(NCC)WCS} Cpgi15342^{tm1.1(NCC)WCS} Cpgi15344^{tm1.1(NCC)WCS} Cpgi15497^{tm1.1(NCC)WCS} Cpgi19279^{tm1.1(NCC)WCS} Cpgi23001^{tm1.1(NCC)WCS} Cpgi399^{tm1.1(NCC)WCS} Cpgi5176^{tm1.1(NCC)WCS} Cpgi5563^{tm1.1(NCC)WCS} Cpgi81^{tm1.1(NCC)WCS} Cpsf3^{tm1a(EUCOMM)Wtsi} Cpsf3^{tm1b(EUCOMM)Wtsi} Cpt1a^{tm1.2(IMPC)Wtsi} Cpt2^{tm1b(KOMP)Wtsi}	PMC7263671
The RNA binding protein CPEB2 regulates hormone sensing in mammary gland development and luminal breast cancer.	Science advances (May 2020)	Cpeb2^{tm1a(KOMP)Wtsi} Cpeb3^{tm1a(EUCOMM)Hmgu}	PMC7228762
Hes1 deficiency causes hematopoietic stem cell exhaustion.	Stem cells (Dayton, Ohio) (March 2020)	Cpt1a^{tm1c(EUCOMM)Hmgu}	PMC7260087
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Cpgi81^{tm1.1(NCC)WCS} Cpsf3^{tm1b(EUCOMM)Wtsi} Cpt2^{tm1b(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Cpgi11865^{tm1.1(NCC)WCS} Cpgi1230^{tm1.1(NCC)WCS} Cpgi13101^{tm1.1(NCC)WCS} Cpgi13569^{tm1.1(NCC)WCS} Cpgi15342^{tm1.1(NCC)WCS} Cpgi15344^{tm1.1(NCC)WCS} Cpgi15497^{tm1.1(NCC)WCS} Cpgi19279^{tm1.1(NCC)WCS} Cpgi399^{tm1.1(NCC)WCS} Cpgi5176^{tm1.1(NCC)WCS} Cpgi5563^{tm1.1(NCC)WCS} Cpgi81^{tm1.1(NCC)WCS} Cpsf3^{tm1a(EUCOMM)Wtsi} Cpsf3^{tm1b(EUCOMM)Wtsi} Cpt2^{tm1b(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Cpsf3^{tm1a(EUCOMM)Wtsi} Cpsf3^{tm1b(EUCOMM)Wtsi} Cpt2^{tm1b(KOMP)Wtsi}	PMC6459510
Autism-like phenotype and risk gene mRNA deadenylation by CPEB4 mis-splicing.	Nature (August 2018)	Cpeb4^{tm1a(EUCOMM)Wtsi}	30111840
Etomoxir Actions on Regulatory and Memory T Cells Are Independent of Cpt1a-Mediated Fatty Acid Oxidation.	Cell metabolism (June 2018)	Cpt1a^{tm1c(EUCOMM)Hmgu}	30043753
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.	Journal of pediatric genetics (May 2018)	Cps1^em1(IMPC)H	PMC6234038
Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.	Molecular genetics and metabolism (April 2018)	Cps1^em1(IMPC)H	29801986
Ghrelin Causes a Decline in GABA Release by Reducing Fatty Acid Oxidation in Cortex.	Molecular neurobiology (February 2018)	Cpt1a^{tm1a(EUCOMM)Hmgu}	PMC6096967
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Cpsf3^{tm1a(EUCOMM)Wtsi} Cpsf3^{tm1b(EUCOMM)Wtsi} Cpsf3l^{tm2b(EUCOMM)Wtsi} Cpt2^{tm1b(KOMP)Wtsi}	PMC5827107
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	Cp^{tm1b(KOMP)Wtsi}	PMC5503261
Circadian- and UPR-dependent control of CPEB4 mediates a translational response to counteract hepatic steatosis under ER stress.	Nature cell biology (January 2017)	Cpeb4^{tm1c(EUCOMM)Wtsi} Cpeb4^{tm1a(EUCOMM)Wtsi} Cpeb4^{tm1d(EUCOMM)Wtsi}	28092655
Impaired neurodevelopment by the low complexity domain of CPEB4 reveals a convergent pathway with neurodegeneration.	Scientific reports (July 2016)	Cpeb4^{tm1a(EUCOMM)Wtsi} Cpeb4^{tm1d(EUCOMM)Wtsi}	PMC4933966
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Cpt2^{tm1b(KOMP)Wtsi}	PMC5159622
Sequential Functions of CPEB1 and CPEB4 Regulate Pathologic Expression of Vascular Endothelial Growth Factor and Angiogenesis in Chronic Liver Disease.	Gastroenterology (November 2015)	Cpeb4^{tm1c(EUCOMM)Wtsi} Cpeb4^{tm1a(EUCOMM)Wtsi}	26627607
Cpeb4-mediated translational regulatory circuitry controls terminal erythroid differentiation.	Developmental cell (September 2014)	Cpeb4^{tm1a(EUCOMM)Wtsi}	PMC4182162

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cp^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cp^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Cp MGI:88476

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Adult LacZ

Embryo LacZ

X-ray

Sleep Wake

X-ray

X-ray

X-ray

Eye Morphology

Combined SHIRPA and Dysmorphology

Auditory Brain Stem Response

Electroretinography 2

Electroretinography

Electroretinography

Human diseases caused by Cp mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data