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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 skin morphology	Crmp1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Crmp1^em1(IMPC)Mbp	HOM	Early adult	7.12×10^-05
cataract	Crmp1^em1(IMPC)Mbp	HOM	Early adult	7.52×10^-05
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

Download data as: TSV XLS

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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 (398 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	Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly	OMIM:615411
Lissencephaly 1	Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly	OMIM:607432
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Microlissencephaly	Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ...	ORPHA:1083
Sub-Cortical Nodular Heterotopia	Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria	ORPHA:101029
Lissencephaly, X-Linked, 1	Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly	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	Pachygyria, Agyria, Gray matter heterotopia	ORPHA:1084
Periventricular Nodular Heterotopia 6	Periventricular nodular heterotopia	OMIM:615544
Lissencephaly 3	Polymicrogyria, Periventricular laminar heterotopia, Pachygyria, Agyria, Gray matter heterotopia,...	OMIM:611603
Cortical Malformations, Occipital	Pachygyria, Polymicrogyria	OMIM:614115
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	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
Chudley-Mccullough Syndrome	Gray matter heterotopia, Polymicrogyria	OMIM:604213
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Lissencephaly, Periventricular ribbonlike heterotopia	OMIM:618677
Galactosemia Ii	Prolonged neonatal jaundice, Galactosuria, Cataract	OMIM:230200
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep...	OMIM:604317
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian)	Perisylvian polymicrogyria	OMIM:615752
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Type II lissencephaly, Gray matter heterotopia, Dysgyria	ORPHA:352682
Galactosemia Iv	Hepatomegaly, Cataract, Prolonged neonatal jaundice	OMIM:618881
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	Aminoaciduria, Cataract, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Cataract, Hepatosplenomegaly	OMIM:273680
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Band Heterotopia	Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria	OMIM:600348
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Morm Syndrome	Micropenis, Cataract, Retinal atrophy	ORPHA:75858
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	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
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract	OMIM:618660
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Senior-Loken Syndrome	Chronic kidney disease, Cataract, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality o...	ORPHA:3156
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Periventricular nodular heterotopia	OMIM:620065
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract, Renal tubular dysfunction	ORPHA:1380
Lissencephaly 6 With Microcephaly	Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Lissencephaly, Simpl...	OMIM:616212
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Lissencephaly 5	Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia	OMIM:615191
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria	ORPHA:2512
Polymicrogyria Due To Tubb2B Mutation	Polymicrogyria, Pachygyria, Gray matter heterotopia, Lissencephaly, Perisylvian polymicrogyria	ORPHA:300573
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100024
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Optic atrophy, Hematuria, Posterior embryotoxon, Retinal detachment, Corneal opacity, I...	ORPHA:1473
Coats Disease	Cataract, Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Leber Congenital Amaurosis 1	Hyperthreoninuria, Keratoconus, Pigmentary retinopathy, Cataract, Optic disc drusen, Hepatomegaly	OMIM:204000
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice	OMIM:620010
Cataract 47	Cataract, Microcornea, Glycosuria	OMIM:612018
Hemimegalencephaly	Pachygyria, Gray matter heterotopia, Polymicrogyria	ORPHA:99802
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocyto...	OMIM:603552
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract, Retinal detachment, Lattice retinal degeneration	OMIM:614292
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Iris coloboma, Remnants of the hyaloid vascular system	ORPHA:231736
Amyloidosis, Hereditary Systemic 2	Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome	OMIM:105200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Hepatomegaly, Optic disc pallor, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Acalvaria	Abnormality of neuronal migration	ORPHA:945
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Gray matter heterotopia	OMIM:300049
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Periventricular heterotopia, Simplified gyral pattern	OMIM:618273
Aniridia 2	Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Retinitis Pigmentosa 9	Cataract, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:180104
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:613731
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Stickler Syndrome Type 2	Cataract, Retinal detachment, Corneal opacity	ORPHA:90654
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Subependymal Nodular Heterotopia	Abnormality of neuronal migration, Gray matter heterotopia, Polymicrogyria	ORPHA:101030
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria	OMIM:608840
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Fish-Eye Disease	Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenopathy	ORPHA:79292
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Periventricular heterotopia, Simplified gyral pattern	OMIM:616171
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Retinitis Pigmentosa 84	Cataract, Bone spicule pigmentation of the retina, Macular coloboma, Macular atrophy	OMIM:618220
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra...	ORPHA:91495
Mevalonic Aciduria	Cataract, Splenomegaly	ORPHA:29
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Glutathionuria	Gray matter heterotopia	OMIM:231950
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Congenital Rubella Syndrome	Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Anem...	ORPHA:290
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Galactose Mutarotase Deficiency	Cholestasis, Hepatomegaly, Cataract	ORPHA:570422
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Microphthalmia/Coloboma 12	Peters anomaly, Optic disc coloboma, Optic nerve aplasia, Vesicoureteral reflux, Remnants of the ...	OMIM:120200
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Lissencephaly Syndrome, Norman-Roberts Type	Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly	ORPHA:89844
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration	OMIM:193230
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Joubert Syndrome 30	Gray matter heterotopia, Polymicrogyria	OMIM:617622
Congenital Muscular Dystrophy Without Intellectual Disability	Pachygyria, Gray matter heterotopia	ORPHA:370980
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis...	OMIM:221900
Neuraminidase Deficiency	Cataract, Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-linked s...	OMIM:256550
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate...	OMIM:616860
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Macular coloboma	OMIM:613835
Harderoporphyria	Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomegaly, Prolon...	OMIM:618892
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Corneal opacity	ORPHA:93476
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytop...	ORPHA:79312
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:615085
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Hepati...	OMIM:194380
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia...	ORPHA:79477
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly, Optic disc ...	OMIM:611490
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter...	OMIM:617394
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly	OMIM:616589
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen...	OMIM:601859
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
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Multiple Sulfatase Deficiency	Cataract, Optic atrophy, Splenomegaly, Abnormality of retinal pigmentation, Mucopolysacchariduria...	ORPHA:585
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic an...	OMIM:603909
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Norrie Disease	Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,...	OMIM:310600
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Oculocerebrocutaneous Syndrome	Gray matter heterotopia	OMIM:164180
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Alpha-Mannosidosis, Adult Form	Cataract, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Corneal opacity, Optic disc pallor	ORPHA:309288
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,...	OMIM:263200
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi...	OMIM:216360
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Retinal detachment, Macular atrophy, Buphthalmos, Iris coloboma	OMIM:212550
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Polymicrogyria, Type II lissencephaly, Pachygyria, Subcortical heterotopia, Agyria, Gray matter h...	OMIM:614643
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp...	OMIM:603903
Alport Syndrome 2, Autosomal Recessive	Nephritis, Cataract, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, Pr...	OMIM:203780
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia	OMIM:618974
Pierson Syndrome	Cataract, Hypoplasia of the iris, Stage 5 chronic kidney disease, Rieger anomaly, Uveal ectropion...	OMIM:609049
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Papillorenal Syndrome	Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Macular degener...	OMIM:120330
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Fetal Cytomegalovirus Syndrome	Optic atrophy, Hepatitis, Retinal hemorrhage, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemi...	ORPHA:294
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ...	OMIM:615234
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Anemia, Thromboc...	ORPHA:848
Amyloidosis, Finnish Type	Cataract, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, ...	OMIM:105120
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti...	OMIM:266200
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Walker-Warburg Syndrome	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen...	ORPHA:899
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No...	OMIM:613470
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Stromme Syndrome	Accessory spleen, Cataract, Microcornea, Peters anomaly, Bilateral renal hypoplasia, Hydronephros...	OMIM:243605
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Tafro Syndrome	Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop...	ORPHA:457077
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Conjunctival icter...	ORPHA:53035
Scheie Syndrome	Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Corneal opacity	ORPHA:93474
Proteus-Like Syndrome	Cataract, Thymus hyperplasia, Abnormal pupil morphology, Splenomegaly, Heterochromia iridis, Reti...	ORPHA:2969
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration	ORPHA:93274
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color	ORPHA:90037
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu...	ORPHA:77259
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Beta-Thalassemia Intermedia	Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ...	ORPHA:231222
Exudative Vitreoretinopathy 6	Cataract, Nuclear cataract, Tractional retinal detachment, Retinal detachment, Cortical cataract,...	OMIM:616468
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen...	ORPHA:2211
Congenital Muscular Dystrophy With Cerebellar Involvement	Type II lissencephaly, Gray matter heterotopia, Polymicrogyria	ORPHA:370959
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Macular atrophy, Hepatomegaly	OMIM:230800
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Periventricular heterotopia	ORPHA:255138
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Cataract, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Bone...	OMIM:268315
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Cataract, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Keratoconjunct...	OMIM:269200
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Lymphangioma, Abnormal lymphatic vessel morphology, Abnormality of the lympha...	ORPHA:464329
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Desmosterolosis	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen...	ORPHA:35107
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Thanatophoric Dysplasia	Gray matter heterotopia	ORPHA:2655
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath...	ORPHA:100026
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Neurocutaneous Melanocytosis	Abnormality of neuronal migration	ORPHA:2481
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Galloway-Mowat Syndrome	Abnormality of neuronal migration, Pachygyria	ORPHA:2065
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Polymicrogyria	OMIM:617397
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ...	OMIM:613812
Budd-Chiari Syndrome	Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Cataract, Renal hypoplasia, Nephrocalcinosis, Optic atrophy, Renal artery stenosis...	OMIM:617913
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Nuclear cataract, Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia	OMIM:608885
Knobloch Syndrome	Cataract, Macular degeneration, Ectopia lentis, Bifid ureter, Vesicoureteral reflux, Retinal deta...	ORPHA:1571
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Gray matter heterotopia, Lissencephaly, Simplified gyral pattern	OMIM:615219
Chiari Malformation Type Ii	Gray matter heterotopia	OMIM:207950
Fuchs Heterochromic Iridocyclitis	Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Optic disc pallor, Pa...	ORPHA:263479
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Joubert Syndrome	Abnormality of neuronal migration, Polymicrogyria	ORPHA:475
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro...	OMIM:603554
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Van Maldergem Syndrome 1	Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero...	OMIM:601390
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Retinal coloboma, Iris cyst, ...	OMIM:612109
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Neu-Laxova Syndrome	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen...	ORPHA:2671
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Carnitine Palmitoyltransferase Ii Deficiency	Abnormality of neuronal migration, Pachygyria, Polymicrogyria	ORPHA:157
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia	OMIM:614105
3C Syndrome	Abnormality of neuronal migration	ORPHA:7
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit...	OMIM:232220
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
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Meckel Syndrome	Accessory spleen, Cataract, Multicystic kidney dysplasia, Microcornea, Optic atrophy, Pancreatic ...	ORPHA:564
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Lissencephaly	OMIM:617822
Vici Syndrome	Gray matter heterotopia	ORPHA:1493
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Gaucher Disease, Type Iiic	Pancytopenia, Splenomegaly, Cardiomegaly, Hepatomegaly, Opacification of the corneal stroma	OMIM:231005
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration	ORPHA:163681
Thanatophoric Dysplasia, Type I	Gray matter heterotopia	OMIM:187600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Abnormality of neuronal migration, Polymicrogyria	OMIM:608836
Atelis Syndrome 2	Anemia, Developmental cataract, Thrombocytopenia, Remnants of the hyaloid vascular system	OMIM:620185
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormality of neuronal migration, Pachygyria, Polymicrogyria	ORPHA:228308
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Gray matter heterotopia	OMIM:620475
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria	OMIM:247200
Thanatophoric Dysplasia Type 1	Gray matter heterotopia	ORPHA:1860
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Periventricular heterotopia	OMIM:619833
Tyrosinemia, Type I	Nephrocalcinosis, Elevated urinary succinylacetone level, Ascites, Renal insufficiency, Splenomeg...	OMIM:276700
Coffin-Lowry Syndrome	Abnormality of neuronal migration	ORPHA:192
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Periventricular heterotopia	OMIM:618870
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration	ORPHA:261236
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Pachygyria, Gray matter heterotopia, Frontal polymicrogyria	OMIM:620024
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
6Q Terminal Deletion Syndrome	Abnormality of neuronal migration, Gray matter heterotopia, Periventricular heterotopia, Polymicr...	ORPHA:75857
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia	ORPHA:26791
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia	OMIM:618929
Galloway-Mowat Syndrome 1	Abnormality of neuronal migration, Pachygyria	OMIM:251300
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration	ORPHA:1454
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Bohring-Opitz Syndrome	Gray matter heterotopia	OMIM:605039
Bilateral Perisylvian Polymicrogyria	Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ...	ORPHA:98889
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:214100
Norrie Disease	Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Retin...	ORPHA:649
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration	ORPHA:2754
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia	OMIM:618476
Koolen-De Vries Syndrome	Gray matter heterotopia	OMIM:610443
Cerebrofacioarticular Syndrome	Gray matter heterotopia	ORPHA:314679
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Polymicrogyria, Periventricular heterotopia, Pachygyria, Lissencephaly, Simplified gyral pattern	ORPHA:468631
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Gray matter heterotopia	OMIM:620654
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia	ORPHA:261250
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia	OMIM:618733
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system	ORPHA:637
Neuroocular Syndrome 1	Cataract, Microcornea, Peters anomaly, Blue irides, Remnants of the hyaloid vascular system, Stel...	OMIM:619539
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia	OMIM:276300
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	Pachygyria, Gray matter heterotopia, Polymicrogyria	OMIM:304050
Opitz-Kaveggia Syndrome	Gray matter heterotopia	OMIM:305450
Microphthalmia, Syndromic 2	Hypospadias, Microcornea, Retinal detachment, Developmental cataract, Remnants of the hyaloid vas...	OMIM:300166
Orofaciodigital Syndrome I	Gray matter heterotopia, Abnormal cortical gyration	OMIM:311200
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration	ORPHA:3186
Nijmegen Breakage Syndrome	Abnormality of neuronal migration	ORPHA:647
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
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Periventricular nodular heterotopia	OMIM:603671
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Pachygyria, Polymicrogyria, Microlissencephaly, Gray matter heterotopia	OMIM:210710
Arima Syndrome	Gray matter heterotopia	OMIM:243910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Type II lissencephaly, Gray matter heterotopia	OMIM:615287
Fontaine Progeroid Syndrome	Gray matter heterotopia, Periventricular heterotopia	OMIM:612289
Orofaciodigital Syndrome Xiv	Simplified gyral pattern, Periventricular heterotopia, Polymicrogyria	OMIM:615948
Hydrolethalus Syndrome 1	Gray matter heterotopia, Abnormal cortical gyration	OMIM:236680
Smith-Lemli-Opitz Syndrome	Periventricular heterotopia	OMIM:270400
Holoprosencephaly 2	Iris coloboma, Remnants of the hyaloid vascular system	OMIM:157170
Orofaciodigital Syndrome Type 14	Periventricular heterotopia	ORPHA:434179
Proteus Syndrome	Gray matter heterotopia	ORPHA:744
Genitopatellar Syndrome	Pachygyria, Periventricular heterotopia	OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Periventricular heterotopia, Polymicrogyria	ORPHA:261537
Mowat-Wilson Syndrome	Periventricular heterotopia, Polymicrogyria	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Periventricular heterotopia, Polymicrogyria	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^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Crmp1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
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

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