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Gene: Crmp1 MGI:107793

Gene Summary

Name:

collapsin response mediator protein 1

Synonyms:

Ulip3, DRP-1

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
abnormal spleen morphology	Crmp1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Crmp1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Crmp1^em1(IMPC)Mbp	HOM	Early adult	0.00
small kidney	Crmp1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Crmp1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Crmp1^em1(IMPC)Mbp	HOM	Early adult	6.74×10^-08
cataract	Crmp1^em1(IMPC)Mbp	HOM	Early adult	6.14×10^-08

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

33 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Human diseases caused by Crmp1 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 Crmp1 (0 diseases)
Human diseases predicted to be associated with Crmp1 (391 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Crmp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Microcephaly 12, Primary, Autosomal Recessive	Simplified gyral pattern	OMIM:616080
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian)	Perisylvian polymicrogyria	OMIM:615752
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:607432
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract, 3-Methylglutaconic aciduria	OMIM:619813
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration	ORPHA:101029
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:300067
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Periventricular Nodular Heterotopia 8	Periventricular nodular heterotopia	OMIM:618185
Joubert Syndrome 13	Pachygyria	OMIM:614173
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Pachygyria, Lissencephaly	OMIM:614499
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Periventricular Nodular Heterotopia 6	Periventricular nodular heterotopia	OMIM:615544
Lissencephaly 3	Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr...	OMIM:611603
Cortical Malformations, Occipital	Pachygyria, Polymicrogyria	OMIM:614115
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Periventricular nodular heterotopia	OMIM:618572
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Lissencephaly, Periventricular ribbonlike heterotopia	OMIM:618677
Chudley-Mccullough Syndrome	Gray matter heterotopia, Polymicrogyria	OMIM:604213
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Galactosemia Ii	Cataract, Galactosuria, Prolonged neonatal jaundice	OMIM:230200
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,...	OMIM:604317
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Type II lissencephaly, Dysgyria	ORPHA:352682
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration	OMIM:618709
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Cataract 42	Cataract, Developmental cataract	OMIM:115900
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Band Heterotopia	Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria	OMIM:600348
Galactosemia Iv	Cataract, Prolonged neonatal jaundice	OMIM:618881
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma	ORPHA:882
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Periventricular nodular heterotopia	OMIM:620065
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Polymicrogyria, Abnormal cortical gyration	OMIM:619602
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Congenital hepatic fibrosis, Chronic kidney diseas...	ORPHA:3156
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Cataract-Nephropathy-Encephalopathy Syndrome	Renal tubular dysfunction, Cataract	ORPHA:1380
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlissencephaly, Lissenceph...	OMIM:616212
Lissencephaly 5	Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly	OMIM:615191
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyria	ORPHA:300573
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria	ORPHA:2512
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I...	ORPHA:1473
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia	OMIM:618660
Coats Disease	Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria	OMIM:204000
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Polymicrogyria	ORPHA:99802
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis	OMIM:620010
Cataract 47	Microcornea, Cataract, Glycosuria	OMIM:612018
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, ...	OMIM:603552
Acalvaria	Abnormality of neuronal migration	ORPHA:945
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration	OMIM:614292
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Optic disc pallor, Cataract, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria	ORPHA:370980
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Subependymal Nodular Heterotopia	Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration	ORPHA:101030
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity	ORPHA:90654
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Abnormality of neuronal migration	OMIM:608840
Retinitis Pigmentosa 4	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy	OMIM:613731
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy	OMIM:180104
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Simplified gyral pattern, Periventricular heterotopia	OMIM:616171
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Retinitis Pigmentosa 84	Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma	OMIM:618220
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Glutathionuria	Gray matter heterotopia	OMIM:231950
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Mevalonic Aciduria	Splenomegaly, Cataract	ORPHA:29
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Jaund...	ORPHA:290
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly	ORPHA:89844
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata	OMIM:193230
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Neuraminidase Deficiency	Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro...	OMIM:256550
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy	OMIM:613835
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Corneal opacity, Abnormality of the tonsils	ORPHA:93476
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Optic atrophy, Anemia, Neutropenia, Pancreatitis...	ORPHA:79312
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu...	OMIM:194380
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni...	ORPHA:79477
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ...	OMIM:611490
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria	ORPHA:664
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:617201
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Multiple Sulfatase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic...	ORPHA:585
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Oculocerebrocutaneous Syndrome	Gray matter heterotopia	OMIM:164180
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduria	ORPHA:309288
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Walker-Warburg Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:899
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Malformation of the hepatic ductal plate,...	OMIM:208540
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Coach Syndrome 1	Hepatomegaly, Optic disc pallor, Portal hypertension, Unilateral renal agenesis, Abnormal abdomen...	OMIM:216360
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Agyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyr...	OMIM:614643
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma	OMIM:212550
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia	OMIM:618974
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili...	OMIM:609049
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Papillorenal Syndrome	Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence o...	OMIM:120330
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema...	OMIM:203780
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:2211
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic...	OMIM:243605
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration	ORPHA:93274
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal...	ORPHA:2969
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Desmosterolosis	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:35107
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90037
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Scheie Syndrome	Splenomegaly, Hepatomegaly, Mucopolysacchariduria, Corneal opacity	ORPHA:93474
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Exudative Vitreoretinopathy 6	Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,...	OMIM:616468
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Congenital Muscular Dystrophy With Cerebellar Involvement	Gray matter heterotopia, Polymicrogyria, Type II lissencephaly	ORPHA:370959
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Periventricular heterotopia	ORPHA:255138
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro...	OMIM:268315
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis...	OMIM:269200
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Thanatophoric Dysplasia	Gray matter heterotopia	ORPHA:2655
Neurocutaneous Melanocytosis	Abnormality of neuronal migration	ORPHA:2481
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Developmental glaucoma, Hepati...	OMIM:610199
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Galloway-Mowat Syndrome	Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Polymicrogyria	OMIM:617397
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal a...	OMIM:617913
Neu-Laxova Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:2671
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis...	ORPHA:263479
Chiari Malformation Type Ii	Gray matter heterotopia	OMIM:207950
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Nuclear cataract, Stomatocytosis	OMIM:608885
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Joubert Syndrome	Polymicrogyria, Abnormality of neuronal migration	ORPHA:475
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Gray matter heterotopia, Lissencephaly, Simplified gyral pattern	OMIM:615219
Knobloch Syndrome	Retinal detachment, Cataract, Ectopia lentis, Macular degeneration, Vesicoureteral reflux, Lympha...	ORPHA:1571
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ...	OMIM:601390
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Oculoauricular Syndrome	Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste...	OMIM:612109
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Carnitine Palmitoyltransferase Ii Deficiency	Polymicrogyria, Pachygyria, Abnormality of neuronal migration	ORPHA:157
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia	OMIM:614105
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal...	OMIM:232220
3C Syndrome	Abnormality of neuronal migration	ORPHA:7
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration	ORPHA:2318
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Polymicrogyria	OMIM:619775
Radio-Tartaglia Syndrome	Gray matter heterotopia	OMIM:619312
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Lissencephaly	OMIM:617822
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Vici Syndrome	Gray matter heterotopia	ORPHA:1493
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Pancreatic fibros...	ORPHA:564
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma	OMIM:231005
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration	ORPHA:163681
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Abnormality of neuronal migration	OMIM:608836
Thanatophoric Dysplasia, Type I	Gray matter heterotopia	OMIM:187600
Atelis Syndrome 2	Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia, Developmental cataract	OMIM:620185
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Polymicrogyria, Pachygyria, Abnormality of neuronal migration	ORPHA:228308
Thanatophoric Dysplasia Type 1	Gray matter heterotopia	ORPHA:1860
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Periventricular heterotopia	OMIM:619833
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:247200
Coffin-Lowry Syndrome	Abnormality of neuronal migration	ORPHA:192
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Pancre...	OMIM:276700
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Periventricular heterotopia	OMIM:618870
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration	ORPHA:261236
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Gray matter heterotopia, Frontal polymicrogyria, Pachygyria	OMIM:620024
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia	ORPHA:26791
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia	OMIM:618929
6Q Terminal Deletion Syndrome	Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration, Periventricular heter...	ORPHA:75857
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration	ORPHA:1454
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Bohring-Opitz Syndrome	Gray matter heterotopia	OMIM:605039
Bilateral Perisylvian Polymicrogyria	Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per...	ORPHA:98889
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:214100
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration	ORPHA:2754
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia	OMIM:618476
Cerebrofacioarticular Syndrome	Gray matter heterotopia	ORPHA:314679
Koolen-De Vries Syndrome	Gray matter heterotopia	OMIM:610443
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Lissencephaly, Polymicrogyria	ORPHA:468631
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Periventricular nodular heterotopia	OMIM:603671
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract	ORPHA:637
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia	ORPHA:261250
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia	OMIM:618733
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia	OMIM:276300
Neuroocular Syndrome	Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ...	OMIM:619539
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of neuronal migration	ORPHA:464311
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia	ORPHA:453499
Holoprosencephaly	Abnormality of neuronal migration	ORPHA:2162
Holoprosencephaly 14	Gray matter heterotopia, Periventricular heterotopia	OMIM:619895
Aicardi Syndrome	Gray matter heterotopia, Pachygyria, Polymicrogyria	OMIM:304050
Opitz-Kaveggia Syndrome	Gray matter heterotopia	OMIM:305450
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Developmental cataract,...	OMIM:300166
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration	ORPHA:3186
Nijmegen Breakage Syndrome	Abnormality of neuronal migration	ORPHA:647
Orofaciodigital Syndrome I	Gray matter heterotopia, Abnormal cortical gyration	OMIM:311200
Vici Syndrome	Gray matter heterotopia	OMIM:242840
Pagod Syndrome	Abnormality of neuronal migration	ORPHA:991
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Polymicrogyria	OMIM:618820
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia	ORPHA:352665
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Microlissencephaly, Gray matter heterotopia, Pachygyria, Polymicrogyria	OMIM:210710
Arima Syndrome	Gray matter heterotopia	OMIM:243910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Gray matter heterotopia, Type II lissencephaly	OMIM:615287
Fontaine Progeroid Syndrome	Gray matter heterotopia, Periventricular heterotopia	OMIM:612289
Orofaciodigital Syndrome Xiv	Polymicrogyria, Simplified gyral pattern, Periventricular heterotopia	OMIM:615948
Hydrolethalus Syndrome 1	Gray matter heterotopia, Abnormal cortical gyration	OMIM:236680
Smith-Lemli-Opitz Syndrome	Periventricular heterotopia	OMIM:270400
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Proteus Syndrome	Gray matter heterotopia	ORPHA:744
Orofaciodigital Syndrome Type 14	Periventricular heterotopia	ORPHA:434179
Genitopatellar Syndrome	Pachygyria, Periventricular heterotopia	OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Polymicrogyria, Periventricular heterotopia	ORPHA:261537
Mowat-Wilson Syndrome	Polymicrogyria, Periventricular heterotopia	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Polymicrogyria, Periventricular heterotopia	ORPHA:261552

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 Crmp1

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 Crmp1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Collapsin Response Mediator Protein 1 (CRMP1) Is Required for High-Frequency Hearing.	The American journal of pathology (February 2022)	Crmp1^em1(IMPC)Mbp	35181334

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MGI Allele	Allele Type	Produced
Crmp1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Crmp1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Crmp1^{tm190178(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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

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Gene: Crmp1 MGI:107793

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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