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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 vitreous body morphology	Crmp1^em1(IMPC)Mbp	HOM	Early adult	1.80×10^-07
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 spleen morphology	Crmp1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Crmp1^em1(IMPC)Mbp	HOM	Early adult	0.00
cataract	Crmp1^em1(IMPC)Mbp	HOM	Early adult	1.70×10^-07

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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 Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

33 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 (451 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
Microcephaly 7, Primary, Autosomal Recessive	Simplified gyral pattern	OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive	Simplified gyral pattern	OMIM:616080
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Periventricular Nodular Heterotopia 6	Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:615544
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Pachygyria, Lissencephaly	OMIM:614499
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	OMIM:615411
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive	Perisylvian polymicrogyria	OMIM:615752
Lissencephaly 1	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	OMIM:607432
Microcephaly 9, Primary, Autosomal Recessive	Simplified gyral pattern	OMIM:614852
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli...	OMIM:604317
Periventricular Nodular Heterotopia 8	Periventricular nodular heterotopia	OMIM:618185
Microlissencephaly	Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,...	ORPHA:1083
Cortical Malformations, Occipital	Pachygyria, Polymicrogyria	OMIM:614115
Sub-Cortical Nodular Heterotopia	Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria	ORPHA:101029
Lissencephaly, X-Linked, 1	Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly	OMIM:300067
Joubert Syndrome 13	Pachygyria	OMIM:614173
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Cataract, Splenomegaly	OMIM:619813
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Agyria, Pachygyria, Gray matter heterotopia	ORPHA:1084
Band Heterotopia	Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia	OMIM:600348
Lissencephaly 3	Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria	OMIM:611603
Cataract 20, Multiple Types	Membranous cataract, Cataract	OMIM:116100
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
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
Periventricular Nodular Heterotopia 7	Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:617201
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 18	Cataract	OMIM:610019
Galactosemia Ii	Cataract, Galactosuria, Prolonged neonatal jaundice	OMIM:230200
Chudley-Mccullough Syndrome	Gray matter heterotopia, Polymicrogyria	OMIM:604213
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly	OMIM:206400
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Periventricular ribbonlike heterotopia, Lissencephaly	OMIM:618677
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Type II lissencephaly, Gray matter heterotopia, 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
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Corneal Dystrophy, Groenouw Type I	Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy	OMIM:121900
Galactose Epimerase Deficiency	Hepatomegaly, Aminoaciduria, Splenomegaly, Cataract, Jaundice	ORPHA:79238
Galactosemia Iv	Cataract, Prolonged neonatal jaundice	OMIM:618881
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Cataract	OMIM:273680
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Megalocornea	Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod...	OMIM:309300
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment, Cataract	OMIM:147610
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Abnormal cortical gyration, Polymicrogyria	OMIM:619602
Cataract-Microcornea Syndrome	Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy	ORPHA:1377
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Tyrosinemia Type 1	Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly	ORPHA:882
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Trimethylaminuria	Trimethylaminuria, Anemia, Neutropenia, Splenomegaly	OMIM:602079
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Morm Syndrome	Cataract, Retinal atrophy, Micropenis	ORPHA:75858
Anterior Segment Dysgenesis 8	Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca...	OMIM:617319
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic...	OMIM:603902
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Senior-Loken Syndrome	Chronic kidney disease, Abnormality of retinal pigmentation, Nephronophthisis, Congenital hepatic...	ORPHA:3156
Cataract 9, Multiple Types	Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract	OMIM:604219
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid...	OMIM:133180
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane	OMIM:225200
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h...	ORPHA:444463
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat...	OMIM:616217
Cataract-Nephropathy-Encephalopathy Syndrome	Renal tubular dysfunction, Cataract	ORPHA:1380
Lissencephaly 5	Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia	OMIM:615191
Retinitis Pigmentosa 84	Macular coloboma, Cataract, Macular atrophy	OMIM:618220
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid...	OMIM:237800
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration	OMIM:618195
Immunodeficiency 104	Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly	OMIM:608971
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly	OMIM:614480
Autosomal Recessive Primary Microcephaly	Pachygyria, Gray matter heterotopia	ORPHA:2512
Galactosemia Iii	Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice	OMIM:230350
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ...	ORPHA:100024
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb...	OMIM:615285
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Aminoaciduria, Splenomegaly	ORPHA:417
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Pachygyria, Polymicrogyria, Lissencephaly, Simplified gyral pattern,...	OMIM:616212
Coats Disease	Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract	ORPHA:190
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Corneal opacity, Retinal detachment, Posterior embryotoxon, Hematuria, Optic atrophy, Iris colobo...	ORPHA:1473
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Dysplastic Cortical Hyperostosis	Abnormality of neuronal migration	ORPHA:2204
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cystic renal dysplasia, Ectopic kidney, Cataract	OMIM:613730
Amyloidosis, Familial Visceral	Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria	OMIM:105200
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Cataract	OMIM:618660
Hemimegalencephaly	Pachygyria, Gray matter heterotopia, Polymicrogyria	ORPHA:99802
Leber Congenital Amaurosis 1	Hepatomegaly, Pigmentary retinopathy, Optic disc drusen, Keratoconus, Cataract, Hyperthreoninuria	OMIM:204000
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy	OMIM:618852
Acalvaria	Abnormality of neuronal migration	ORPHA:945
Cataract 47	Glycosuria, Cataract, Microcornea	OMIM:612018
Peroxisome Biogenesis Disorder 13A (Zellweger)	Abnormality of neuronal migration	OMIM:614887
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Lens subluxation, Cataract	OMIM:614292
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Splenomegaly, Cholestasis, Proteinuria, Jaundice	OMIM:620010
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anem...	OMIM:603552
Congenital Muscular Dystrophy Without Intellectual Disability	Pachygyria, Gray matter heterotopia	ORPHA:370980
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Gray matter heterotopia	OMIM:300049
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Iris coloboma	ORPHA:231736
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Polymicrogyria, Lissencephaly, Pachygyria	ORPHA:300573
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Splenomegaly	OMIM:179700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria	OMIM:608840
Stickler Syndrome Type 2	Corneal opacity, Retinal detachment, Cataract	ORPHA:90654
Aniridia 2	Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia	OMIM:617141
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Subependymal Nodular Heterotopia	Abnormality of neuronal migration, Gray matter heterotopia, Polymicrogyria	ORPHA:101030
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy	ORPHA:66661
Alpha-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J...	ORPHA:846
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Iris coloboma, Retinal detachment, Cataract, Macular atrophy	OMIM:212550
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Immunodeficiency 69	Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia	OMIM:618963
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Fish-Eye Disease	Corneal opacity, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia	OMIM:615234
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Microphthalmia, Isolated, With Coloboma 3	Iris coloboma, Cataract	OMIM:610092
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli...	OMIM:121300
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy	OMIM:180104
Splenoportal Vascular Anomalies	Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system	OMIM:271500
Aniridia-Intellectual Disability Syndrome	Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia	ORPHA:1068
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M...	OMIM:614470
Autoimmune Lymphoproliferative Syndrome, Type Iii	Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD...	OMIM:615559
Congenital Rubella Syndrome	Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Aplasia/Hypopla...	ORPHA:290
Mevalonic Aciduria	Cataract, Splenomegaly	ORPHA:29
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter, Anemia, Ascites	ORPHA:1046
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic disc pallor...	OMIM:611490
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Persistent Hyperplastic Primary Vitreous	Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ...	ORPHA:91495
Immunodeficiency 76	Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy	OMIM:619164
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice	OMIM:224100
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Lissencephaly Syndrome, Norman-Roberts Type	Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly	ORPHA:89844
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis...	OMIM:615631
Galactose Mutarotase Deficiency	Hepatomegaly, Cataract, Cholestasis	ORPHA:570422
Coloboma, Ocular, Autosomal Dominant	Remnants of the hyaloid vascular system, Corneal opacity, Optic disc coloboma, Peters anomaly, Op...	OMIM:120200
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise...	ORPHA:79301
Exfoliation Syndrome	Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos...	OMIM:177650
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased...	OMIM:615513
Vitreoretinal Degeneration, Snowflake Type	Snowflake vitreoretinal degeneration, Retinal detachment, Cataract, Corneal guttata	OMIM:193230
Harderoporphyria	Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porphobilinogen, Hemol...	OMIM:618892
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari...	OMIM:256550
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy	ORPHA:100025
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea...	OMIM:619375
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma...	ORPHA:1414
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ...	OMIM:221900
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple...	OMIM:616860
Follicular Lymphoma	Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly	ORPHA:545
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Cataract, Hypoplasia of penis, Aplasia/Hypoplasia of the lens	ORPHA:1381
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy	OMIM:613101
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia	OMIM:613313
Immunodeficiency 64	Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ...	OMIM:618534
Peroxisome Biogenesis Disorder 10B	Cataract, Nephrocalcinosis, Neurogenic bladder, Prolonged neonatal jaundice	OMIM:617370
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Hurler-Scheie Syndrome	Abnormality of the tonsils, Corneal opacity, Hepatomegaly, Splenomegaly	ORPHA:93476
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic fibrosis, Hepatomegaly, Splenomegaly	OMIM:616719
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Jaundice	OMIM:619658
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen...	ORPHA:75564
Leber Congenital Amaurosis 8	Nummular pigmentation of the fundus, Pigmentary retinopathy, Keratoconus, Cataract, Macular coloboma	OMIM:613835
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti...	ORPHA:766
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Increased red cell hemolysis by shear...	OMIM:194380
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract	ORPHA:171844
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen...	OMIM:607594
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Splenomegaly, Optic atrophy, Renal insufficiency, Neutropenia, Anemia...	ORPHA:79312
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice	OMIM:214900
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Pigmentary retin...	OMIM:614866
Morning Glory Disc Anomaly	Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma	ORPHA:35737
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Splenomegaly, Hemolytic anemia, Cataract, Jaundice	OMIM:608885
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Jaundice, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile...	OMIM:617394
Cataract 15, Multiple Types	Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract	OMIM:615274
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ...	ORPHA:2585
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ...	OMIM:619849
Polycystic Kidney, Cataract, And Congenital Blindness	Hypoplasia of the retina, Microcoria, Polycystic kidney dysplasia, Cataract	OMIM:263100
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Conjunctivitis	OMIM:240500
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th...	OMIM:209950
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal...	OMIM:616278
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Simplified gyral pattern, Gray matter heterotopia, Lissencephaly	OMIM:615219
Cold Agglutinin Disease	Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Griscelli Syndrome Type 2	Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Iris hypopigmentation, Pancytopenia, L...	ORPHA:79477
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane...	OMIM:601859
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi...	OMIM:616689
Autosomal Dominant Keratitis	Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro...	ORPHA:2334
Free Sialic Acid Storage Disease	Nephrotic syndrome, Hepatomegaly, Splenomegaly, Iris hypopigmentation, Proteinuria, Ascites	ORPHA:834
Erythrocytosis, Familial, 8	Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C...	OMIM:222800
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Immunodeficiency 32B	Splenomegaly	OMIM:226990
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ...	OMIM:612840
Anterior Segment Dysgenesis 7	Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea	OMIM:269400
Multiple Sulfatase Deficiency	Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, ...	ORPHA:585
Oculocerebrocutaneous Syndrome	Gray matter heterotopia	OMIM:164180
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract	OMIM:216820
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly	OMIM:612526
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:75234
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ...	ORPHA:98848
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatomegaly, Retinal degeneration, Nephronophthisis, Splenomegaly, Chole...	OMIM:615630
Lymphoproliferative Syndrome 2	Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ...	OMIM:615122
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Norrie Disease	Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ...	OMIM:310600
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephrotic syndrome, Hepatomegaly, Nephritis, Coombs-positive hemolytic anemia, Splenomegaly, Neut...	OMIM:603909
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ...	OMIM:235700
Walker-Warburg Syndrome	Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac...	ORPHA:899
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Gray matter heterotopia, Polymicrogyria, Type II lissencephaly, Agyria, Lissencephaly, Pachygyria...	OMIM:614643
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Bile duct proliferation, Portal ...	OMIM:602347
Amoebic Keratitis	Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo...	ORPHA:67043
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Anterior Segment Dysgenesis 2	Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o...	OMIM:610256
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Splenomegaly, Cirrhosis, Asplenia, Pancreatic fibrosis, Hyperechogenic pancreas, Ma...	OMIM:208540
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ...	ORPHA:381
Alpha-Mannosidosis, Adult Form	Corneal opacity, Oligosacchariduria, Hepatosplenomegaly, Optic disc pallor, Cataract, Pancytopenia	ORPHA:309288
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ...	OMIM:619463
Coach Syndrome 1	Abnormal abdomen morphology, Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, U...	OMIM:216360
Hepatoportal Sclerosis	Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ...	ORPHA:64743
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia	OMIM:618974
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac...	ORPHA:2211
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia	ORPHA:158029
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Pierson Syndrome	Remnants of the hyaloid vascular system, Nephrotic syndrome, Diffuse mesangial sclerosis, Retinal...	OMIM:609049
Beta-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An...	ORPHA:848
Omenn Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l...	OMIM:603554
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat...	OMIM:150550
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch...	OMIM:266200
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice	OMIM:185000
Spherocytosis, Type 4	Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:612653
Cryohydrocytosis	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly	OMIM:185020
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Micropenis,...	OMIM:613673
Acromelic Frontonasal Dysostosis	Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:603671
Spherocytosis, Type 1	Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:182900
Primary Myelofibrosis	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm...	ORPHA:824
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Hematuria, Renal insuff...	ORPHA:91138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Type II lissencephaly, Gray matter heterotopia	OMIM:615287
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice	ORPHA:59303
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa...	OMIM:613470
Alport Syndrome 2, Autosomal Recessive	Nephrotic syndrome, Nephritis, Hematuria, Cataract, Renal insufficiency, Proteinuria, Anterior le...	OMIM:203780
Papillorenal Syndrome	Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Macul...	OMIM:120330
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Spherocytosis, Type 2	Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:616649
Stromme Syndrome	Optic nerve hypoplasia, Bilateral renal hypoplasia, Accessory spleen, Microcornea, Peters anomaly...	OMIM:243605
Caroli Disease	Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta...	ORPHA:53035
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:314050
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenomegaly, Buphthalmos, Developmental glaucoma, Cholestasis, Pancreatic hypoplas...	OMIM:610199
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Nephrotic syndrome, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Lymphadenitis, Hepatospleno...	OMIM:618935
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration	ORPHA:93274
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Leukopenia, Throm...	OMIM:278000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Heinz bodies, Hemoglobinuria, Anisocytosis, Poikilocytosis, Fava bean...	OMIM:300908
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Elliptocytosis 1	Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly	OMIM:611804
Desmosterolosis	Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac...	ORPHA:35107
Autoimmune Hemolytic Anemia	Abnormal urinary color, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:98375
Scheie Syndrome	Corneal opacity, Hepatomegaly, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Jaundice, Acholic stools	OMIM:613812
Proteus-Like Syndrome	Abnormal pupil morphology, Splenomegaly, Retinal detachment, Limbal dermoid, Thymus hyperplasia, ...	ORPHA:2969
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,...	OMIM:251880
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm...	OMIM:601847
Beta-Thalassemia Intermedia	Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o...	ORPHA:231222
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly	ORPHA:163596
Immunodeficiency 97 With Autoinflammation	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly...	OMIM:619802
Sickle Cell Anemia	Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hematuria, Hemolytic anemia, Target cel...	OMIM:603903
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular heterotopia, Pachygyria	ORPHA:255138
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A...	OMIM:612714
Macrocephaly/Autism Syndrome	Lymphopenia, Hepatomegaly, Splenomegaly	OMIM:605309
Erythrocytosis, Familial, 1	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly	OMIM:133100
Lymphoproliferative Syndrome 1	Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ...	OMIM:613011
Wolman Disease	Hepatomegaly, Splenomegaly, Anemia, Bone-marrow foam cells, Ascites	ORPHA:75233
Thanatophoric Dysplasia	Gray matter heterotopia	ORPHA:2655
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B...	OMIM:301078
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Optic atrophy, Renal hypoplasia, Cataract, Hydronephrosis	OMIM:617913
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Exocrine pancreatic insufficiency, Band keratopathy, Cirrhosis, Chronic hepatitis, Kerat...	OMIM:269200
Solute carrier family 4 (anion exchanger), member 1	Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re...	OMIM:109270
Optic Nerve Hypoplasia, Bilateral	Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia	OMIM:165550
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Glycosuria, Renal Fanconi syndrome, Optic atrophy, Optic disc pallor, Cataract, Bone spicule pigm...	OMIM:268315
Cataract 5, Multiple Types	Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract	OMIM:116800
Congenital Muscular Dystrophy With Cerebellar Involvement	Type II lissencephaly, Gray matter heterotopia, Polymicrogyria	ORPHA:370959
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex...	OMIM:602450
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly...	OMIM:224120
Gaucher Disease, Type I	Hepatomegaly, Splenomegaly, Macular atrophy, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism	OMIM:230800
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Splenomegaly, Corneal neovascularization, Punctate keratitis, Hypereosinophilia, Au...	OMIM:617388
Kaposiform Lymphangiomatosis	Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Multiple renal cysts,...	ORPHA:464329
Multiple Sulfatase Deficiency	Corneal opacity, Hepatomegaly, Retinal degeneration, Splenomegaly, Mucopolysacchariduria	OMIM:272200
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep...	OMIM:211600
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Neurocutaneous Melanocytosis	Abnormality of neuronal migration	ORPHA:2481
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Bile duct proliferation	OMIM:613027
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Splenomegaly, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Ja...	ORPHA:90033
Neu-Laxova Syndrome	Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac...	ORPHA:2671
Gamma-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu...	ORPHA:100026
Galloway-Mowat Syndrome	Abnormality of neuronal migration, Pachygyria	ORPHA:2065
Hereditary Orotic Aciduria	Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Anemia, Orotic acid cryst...	ORPHA:30
Joubert Syndrome	Abnormality of neuronal migration, Polymicrogyria	ORPHA:475
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Splenomegaly, Hemolytic anemia, Hypoplasia of the iris, Thrombocytopenia, Lymphaden...	ORPHA:169090
Budd-Chiari Syndrome	Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Portal hypertension, Ascites, ...	ORPHA:131
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Polymicrogyria	OMIM:617397
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti...	ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice, ...	OMIM:607765
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly	OMIM:235555
Chiari Malformation Type Ii	Gray matter heterotopia	OMIM:207950
Gaucher Disease Type 1	Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Hematuria, Thrombocytopenia, Biliary tract obs...	ORPHA:77259
Van Maldergem Syndrome 1	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl...	OMIM:601390
Knobloch Syndrome	Lymphangioma, Macular degeneration, Retinal detachment, Bifid ureter, Cataract, Vesicoureteral re...	ORPHA:1571
Oculo-Palato-Cerebral Syndrome	Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria	ORPHA:2714
Chediak-Higashi Syndrome	Hepatomegaly, Ocular albinism, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopeni...	OMIM:214500
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Acute Panmyelosis With Myelofibrosis	Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula...	ORPHA:86843
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Temporal optic disc pallor, Cataract, Anisocoria	OMIM:619649
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:619183
Myelofibrosis	Myeloproliferative disorder, Splenomegaly	OMIM:254450
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly	OMIM:618398
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly...	ORPHA:288
Aniridia 1	Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of the cornea...	OMIM:106210
Leiomyomatosis, Diffuse, With Alport Syndrome	Abnormal renal physiology, Nephropathy, Hematuria, Lenticonus, Cataract, Renal insufficiency, Pro...	OMIM:308940
Oculoauricular Syndrome	Microphakia, Retinal coloboma, Retinal detachment, Posterior embryotoxon, Microcornea, Iris colob...	OMIM:612109
Carnitine Palmitoyltransferase Ii Deficiency	Abnormality of neuronal migration, Pachygyria, Polymicrogyria	ORPHA:157
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
3C Syndrome	Abnormality of neuronal migration	ORPHA:7
Cockayne Syndrome Type 3	Corneal ulceration, Hepatomegaly, Retinal degeneration, Splenomegaly, Unilateral renal agenesis, ...	ORPHA:90324
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Lissencephaly	OMIM:617822
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration	ORPHA:2318
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Glycogen Storage Disease Ib	Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ...	OMIM:232220
Hyper-Igd Syndrome	Neutrophilia, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Lymphadenitis, Hepatosplenomegaly...	OMIM:260920
Vici Syndrome	Gray matter heterotopia	ORPHA:1493
Radio-Tartaglia Syndrome	Gray matter heterotopia	OMIM:619312
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Polymicrogyria	OMIM:619775
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Sitosterolemia 1	Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Giant platele...	OMIM:210250
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Gaucher Disease, Type Iiic	Hepatomegaly, Splenomegaly, Opacification of the corneal stroma, Pancytopenia, Cardiomegaly	OMIM:231005
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Splenomegaly, Schistocytosis, B lymphocytopenia, Hypochromic microcytic anemia, Si...	OMIM:616084
Meckel Syndrome	Urethral atresia, Pancreatic fibrosis, Multicystic kidney dysplasia, Ureteral duplication, Access...	ORPHA:564
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta...	ORPHA:731
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration	ORPHA:163681
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Abnormality of neuronal migration, Polymicrogyria	OMIM:608836
Thanatophoric Dysplasia, Type I	Gray matter heterotopia	OMIM:187600
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia	OMIM:618476
Glycogen Storage Disease Xii	Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Hemoglobinuria, Norm...	OMIM:611881
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormality of neuronal migration, Pachygyria, Polymicrogyria	ORPHA:228308
Van Maldergem Syndrome 2	Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia	OMIM:615546
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Pearson Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Corneal stromal edema, Glycosuria, Cataract, Pro...	ORPHA:699
Miller-Dieker Lissencephaly Syndrome	Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly	OMIM:247200
Thanatophoric Dysplasia Type 1	Gray matter heterotopia	ORPHA:1860
Familial Tumoral Calcinosis	Nephrocalcinosis, Hepatomegaly, Splenomegaly	ORPHA:53715
Isolated Biliary Atresia	Dark yellow urine, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis, Atret...	ORPHA:30391
Coffin-Lowry Syndrome	Abnormality of neuronal migration	ORPHA:192
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Periventricular heterotopia	OMIM:619833
Periventricular Nodular Heterotopia 9	Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria	OMIM:618918
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly	OMIM:153670
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport...	ORPHA:2442
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration	ORPHA:261236
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Periventricular heterotopia	OMIM:618870
Apolipoprotein C-Ii Deficiency	Pancreatitis, Hepatomegaly, Splenomegaly	OMIM:207750
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Pachygyria, Gray matter heterotopia	OMIM:620024
Tyrosinemia, Type I	Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated urinary delta-aminolevu...	OMIM:276700
Hardikar Syndrome	Hepatomegaly, Bladder exstrophy, Cholestasis, Prolonged neonatal jaundice, Bile duct proliferatio...	OMIM:301068
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia	OMIM:618929
6Q Terminal Deletion Syndrome	Abnormality of neuronal migration, Periventricular heterotopia, Gray matter heterotopia, Polymicr...	ORPHA:75857
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia	ORPHA:26791
Parenteral Nutrition-Associated Cholestasis	Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Portal hypertension, Bil...	ORPHA:567983
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa...	OMIM:233710
Porphyria, Congenital Erythropoietic	Cholelithiasis, Corneal scarring, Splenomegaly, Hemolytic anemia, Pink urine, Thrombocytopenia, C...	OMIM:263700
Bohring-Opitz Syndrome	Gray matter heterotopia	OMIM:605039
Hyperlipoproteinemia, Type I	Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly	OMIM:238600
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration	ORPHA:1454
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa...	OMIM:233690
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:214100
Bilateral Perisylvian Polymicrogyria	Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ...	ORPHA:98889
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration	ORPHA:2754
Norrie Disease	Remnants of the hyaloid vascular system, Corneal opacity, Abnormal pupil morphology, Anterior cha...	ORPHA:649
Cerebrofacioarticular Syndrome	Gray matter heterotopia	ORPHA:314679
Hyperlipoproteinemia, Type Id	Pancreatitis, Hepatomegaly, Recurrent pancreatitis, Splenomegaly	OMIM:615947
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria	ORPHA:468631
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia	ORPHA:261250
Neurofibromatosis Type 2	Cortical cataract, Remnants of the hyaloid vascular system, Posterior subcapsular cataract	ORPHA:637
Vici Syndrome	Gray matter heterotopia	OMIM:242840
Koolen-De Vries Syndrome	Gray matter heterotopia	OMIM:610443
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia	OMIM:618733
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of neuronal migration	ORPHA:464311
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia	OMIM:276300
Holoprosencephaly	Abnormality of neuronal migration	ORPHA:2162
Aicardi Syndrome	Pachygyria, Gray matter heterotopia, Polymicrogyria	OMIM:304050
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia	ORPHA:453499
Opitz-Kaveggia Syndrome	Gray matter heterotopia	OMIM:305450
Neuroocular Syndrome	Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Microcornea, Peters anomaly,...	OMIM:619539
Holoprosencephaly 14	Periventricular heterotopia, Gray matter heterotopia	OMIM:619895
Microphthalmia, Syndromic 2	Remnants of the hyaloid vascular system, Hypospadias, Retinal detachment, Microcornea, Iris colob...	OMIM:300166
Arima Syndrome	Gray matter heterotopia	OMIM:243910
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
Pagod Syndrome	Abnormality of neuronal migration	ORPHA:991
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
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Polymicrogyria	OMIM:618820
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Pachygyria, Gray matter heterotopia	OMIM:210710
Fontaine Progeroid Syndrome	Periventricular heterotopia, Gray matter 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	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	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^{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

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Gene: Crmp1 MGI:107793

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Human diseases caused by Crmp1 mutations

Histopathology

IMPC related publications

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Access Data Release 18.0 Data