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Gene: Snd1 MGI:1929266

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Gene Summary

Name:
staphylococcal nuclease and tudor domain containing 1
Synonyms:
p100 co-activator,  Tudor-SN

Order Alleles

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 System Allele Zyg Sex Life Stage P Value
cataract Snd1em1(IMPC)Tcp HET   Early adult 5.30×10-05
small uterus Snd1em1(IMPC)Tcp HET Late adult 0.00
preweaning lethality, incomplete penetrance Snd1em1(IMPC)Tcp HOM   Early adult 0.00
enlarged urinary bladder Snd1em1(IMPC)Tcp HET Early adult 0.00
enlarged urinary bladder Snd1em1(IMPC)Tcp HET Late adult 0.00
decreased lymphocyte cell number Snd1em1(IMPC)Tcp HET Early adult 2.07×10-12
small thymus Snd1em1(IMPC)Tcp HET Late adult 0.00
abnormal sternum morphology Snd1em1(IMPC)Tcp HOM Early adult 0.00
increased neutrophil cell number Snd1em1(IMPC)Tcp HET Early adult 2.09×10-13
increased circulating alanine transaminase level Snd1em1(IMPC)Tcp HET Early adult 6.71×10-11
abnormal sternum morphology Snd1em1(IMPC)Tcp HET Late adult 0.00
decreased spleen weight Snd1em1(IMPC)Tcp HET Late adult 4.63×10-06
abnormal seminal vesicle morphology Snd1em1(IMPC)Tcp HET Late 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.

Eye Morphology

Images Ophthalmoscopy

114 Images

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Gross Pathology and Tissue Collection

Images

14 Images

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Eye Morphology

Images Ophthalmoscopy

130 Images

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Eye Morphology

Images Slit Lamp

99 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

43 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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Histopathology

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Snd1 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.

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

The table below shows human diseases predicted to be associated to Snd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione... OMIM:618660
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Galactosemia Iv
Hepatomegaly, Cataract, Hypergalactosemia OMIM:618881
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Penoscr... OMIM:612965
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Galactosemia Ii
Galactosuria, Hypergalactosemia, Cataract OMIM:230200
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Cataract 42
Cataract, Developmental cataract OMIM:115900
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Satoyoshi Syndrome
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormal hip ... ORPHA:3130
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Micro... ORPHA:325124
Trichomegaly
Cataract OMIM:190330
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Elevate... OMIM:612964
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Azoospermia, Abnormal rib morphology, Hypoplasia of the uterus, Bicorn... OMIM:601076
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Long thumb, Acute myeloid leukemia, Thrombocytopenia, An... OMIM:619151
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:618117
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:617690
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Elevated c... OMIM:609441
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:612310
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619203
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619665
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Satoyoshi Syndrome
Hypoplasia of the uterus, Genu valgum, Osteolytic defects of the phalanges of the hand, Brachydac... OMIM:600705
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Neutropenia, Thrombocytop... ORPHA:859
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated... OMIM:273250
Seckel Syndrome 7
Hip dysplasia, Clinodactyly of the 5th finger, Hypoplasia of the uterus, Short middle phalanx of ... OMIM:614851
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... OMIM:278850
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Leydig Cell Hypoplasia
Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, T... ORPHA:755
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Splenomegaly, Cataract ORPHA:79238
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Hepatomegaly, Auto... OMIM:614470
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Abnormal scrotal rugation, Abnormal male internal genitalia morphology, Abnormal m... ORPHA:2138
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Breast hypoplasia, Decreased testicular size, Non-obstructive azoospermia, Azo... ORPHA:432
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Brachydactyly, Micropenis, Asplenia, Hypoplastic... OMIM:602361
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thr... OMIM:226990
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Brachydactyly ORPHA:247768
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia OMIM:620443
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Meckel Syndrome 12
Renal hypoplasia, Vaginal atresia, Hypoplasia of the uterus, Rocker bottom foot, Ureteral hypoplasia OMIM:616258
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the uterus, Hypoplasia of the ovary, Bico... OMIM:615300
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Breast hypoplasia, Enlarged polycystic ovaries, Increased circul... ORPHA:785
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Hypergalactosemia ORPHA:570422
46,Xy Sex Reversal 4
Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplastic labia majora,... OMIM:154230
Hemochromatosis, Type 4
Cataract, Increased circulating ferritin concentration, Anemia, Hepatomegaly, Elevated transferri... OMIM:606069
Immunodeficiency 95
Lymphopenia OMIM:619773
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Horseshoe kidney, Fibular aplasia,... ORPHA:3320
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma OMIM:120433
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Hyperamylasemia, Hypokale... OMIM:604278
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Bifid distal phalanx of toe, Elevated circulating luteinizing hormone level, Un... OMIM:618419
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Galactosemia I
Aminoaciduria, Galactosuria, Cataract, Increased level of galactitol in red blood cells, Reduced ... OMIM:230400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Microphthalmia, Syndromic 9
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Hypopl... OMIM:601186
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy... ORPHA:90796
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Estrogen Resistance
Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Renal hypoplasia, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cutaneous finger syndactyly, Cryptorchidism, Hypoplastic labia majo... OMIM:119500
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Pancreatic hypoplasia, Glycosuria, Exocrine pancreat... OMIM:137920
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... OMIM:266810
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration OMIM:617243
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Mirage Syndrome
Hypospadias, Microphallus, Radial club hand, Lymphopenia, Overlapping fingers, Decreased testicul... OMIM:617053
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Microcytic anemia, Hypoalbuminemia OMIM:618805
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Bifid scrotum, Bilateral cr... ORPHA:90797
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens ORPHA:1381
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... OMIM:301110
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Abnormal morphology of ... ORPHA:99429
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Relapsing Fever
Acute kidney injury, Increased total bilirubin, Elevated circulating creatinine concentration, Le... ORPHA:91547
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Hypoparathyroidism, Familial Isolated, 1
Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Proximal Myotonic Myopathy
Cataract ORPHA:606
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Monocytosis, Elevated circulating C-re... OMIM:619644
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Short distal phalanx of finger, Hypoplasia... OMIM:615866
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Immunodeficiency 44
Lymphopenia OMIM:616636
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Lumbar Syndrome
Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital... ORPHA:83628
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Hypoplastic spleen, Adducted thumb ORPHA:89844
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u... OMIM:158330
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil c... ORPHA:3226
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ... OMIM:146255
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Alport Syndrome 2, Autosomal Recessive
Nephritis, Cataract, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, Pr... OMIM:203780
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Lympho... OMIM:617575
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell ... ORPHA:760
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Decreased proportion of class-switched memory B cells, Corneal erosion OMIM:614878
Aniridia 3
Cataract, Aniridia OMIM:617142
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol con... ORPHA:247598
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Elevated circulating C-reactive protein concentration, Neutrophilia, Anemia, Liver... ORPHA:54251
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, M... ORPHA:90793
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Carpal synostosis, Humeroradial synostosis, Cryptorchidism, ... OMIM:201750
Trichothiodystrophy 3, Photosensitive
Cataract, Lymphopenia, Neutropenia, Developmental cataract OMIM:616395
Woodhouse-Sakati Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, H... OMIM:241080
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Absent external genitalia, Aplasia of the vagina, Short ribs, Rib fusion, Missing ribs... OMIM:271520
Oeis Complex
Congenital hip dislocation, Hydroureter, Ambiguous genitalia, female, 11 pairs of ribs, Absent sc... OMIM:258040
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Woodhouse-Sakati Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Hypogonadism, S... ORPHA:3464
Avian Influenza
Hypoalbuminemia, Acute kidney injury, Lymphopenia, Leukopenia, Elevated circulating creatine kina... ORPHA:454836
Psoriasis 14, Pustular
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia OMIM:614204
Acute Radiation Syndrome
Cataract, Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia ORPHA:1302
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia ORPHA:1930
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Hepatosplenome... OMIM:274000
Bent Bone Dysplasia Syndrome 2
Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fem... OMIM:620076
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Elevated urinary inosine level, Lymphopenia, Splenomegaly,... OMIM:613179
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Stage 5 chronic kidney disease, Re... OMIM:242900
Pgm3-Cdg
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop... ORPHA:443811
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
Stormorken Syndrome
Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias OMIM:309801
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving the pelvis, Abnormal ti... ORPHA:2879
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... OMIM:602450
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia ORPHA:169160
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Renal insuff... ORPHA:2237
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:168558
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Leukocytosis, Elevated circulating C-reactive prote... OMIM:617099
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Aplasia/Hypoplasia of the pubic bone, Hepatoblastoma, Hypoplastic labia majora, Sp... OMIM:269150
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Renal insufficiency, Hypocalcemia, Leukocytosis, Hyponatremia, Elev... ORPHA:247353
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Cataract, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocyto... ORPHA:508542
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:289548
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Leukocytosis, Splenom... OMIM:620565
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Splenomegaly, Abscess, Peri... OMIM:618935
Ciliary Dyskinesia, Primary, 53
Cardiomegaly, Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Leukocytosis, Eosinophilia, Neutropenia, Neutrophilia, Conjunctivitis ORPHA:293173
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial... OMIM:276820
Peters-Plus Syndrome
Square pelvis bone, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Hypoplasi... OMIM:261540
Staphylococcal Necrotizing Pneumonia
Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis, Neutrophilia ORPHA:36238
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Leukocyto... ORPHA:829
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Upper limb undergrowth... OMIM:614527
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Anemia, Thrombocytopenia, Hypertriglyceridemia, Hepatomegaly, Conjunct... OMIM:617591
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Abscess, Elevated circulating C-reactive protein concentration, Neutrophilia, Hepat... OMIM:612852
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia OMIM:616100
Vici Syndrome
Cataract, Ocular albinism, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T... OMIM:242840
Meckel Syndrome 14
Hepatic fibrosis, Postaxial foot polydactyly, Bowing of the long bones, Postaxial polydactyly, Ap... OMIM:619879
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst... ORPHA:572333
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Peters Plus Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Short toe, Cryptorchidism, Ureteral duplication, Hy... ORPHA:709
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Reduced red cel... OMIM:102700
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Peters anomaly, Lymphopenia, Corneal scarring, Vesicoureteral reflux, Hydroneph... OMIM:618460
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, Hepatopulmonary fusion, 2-3 toe syndactyly, Apla... OMIM:618280
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Familial Mediterranean Fever
Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Elevated circulating C-reactive prote... OMIM:249100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Craniorachischisis
Bifid sternum ORPHA:63260
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Hydronephrosis, Erythroid hypoplasia, ... OMIM:612541
Ulbright-Hodes Syndrome
Thin ribs, Abnormal penis morphology, Renal hypoplasia, Clitoral hypertrophy, Abnormal forearm bo... ORPHA:3404
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Hypoplastic splee... ORPHA:699
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Renal insufficiency, Splenomegaly, Decreased proportion of CD4-positi... ORPHA:3261
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Elevated circulating C-reactive... ORPHA:3243
Limb-Mammary Syndrome
Toe syndactyly, Absent nipple, Oligodactyly, Breast aplasia, Aplasia of the ovary, Aplasia of the... ORPHA:69085
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... ORPHA:35078
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... OMIM:208900
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Cryptorchidism, ... OMIM:107480
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Unilateral renal agenesis, Renal hypoplasia, Absent thumb, Aplasia o... OMIM:614083
Wiskott-Aldrich Syndrome
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Keratitis, Microcytic anemia, Lympho... ORPHA:906
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Bifid scrotum, Horseshoe kidney, Abnormality of the ... ORPHA:322
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Premature fusion of the radial e... ORPHA:90794
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Broad hallux, Aplasia of the vagina, Postaxial polydactyly, Aplasia of... ORPHA:457284
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Abnormal reproductive system morphology, Bifid uterus, Unilateral brachydac... ORPHA:1521
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Upper limb undergrowth, Preaxial hand polydactyly, ... OMIM:236680
Wiskott-Aldrich Syndrome
Nephropathy, Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lympho... OMIM:301000
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo... ORPHA:99826
Wolf-Hirschhorn Syndrome
Accessory spleen, Precocious puberty, Pseudoepiphyses of the metacarpals, Short thumb, Preaxial h... OMIM:194190
Coffin-Lowry Syndrome
Bifid sternum, Uterine prolapse, Tapered finger, Drumstick terminal phalanges, Narrow iliac wing,... OMIM:303600
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid level, Renal angiom... OMIM:260920
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Coffin-Siris Syndrome 1
Renal hypoplasia, Clitoral hypertrophy, Hydroureter, Sandal gap, Prominent fingertip pads, Short ... OMIM:135900
Reynolds Syndrome
Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis, Hepatomegaly OMIM:613471
Yellow Fever
Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating creatinine concentratio... ORPHA:99829
Ehlers-Danlos Syndrome, Vascular Type
Foot acroosteolysis, Uterine rupture, Cystocele, Metacarpophalangeal joint hyperextensibility, Cr... OMIM:130050
Okamoto Syndrome
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Splenomegaly, Polydactyly, Hydro... ORPHA:2729
Neu-Laxova Syndrome 1
Toe syndactyly, Finger syndactyly, Clinodactyly, Radial deviation of finger, Cryptorchidism, Bifi... OMIM:256520
Pallister-Killian Syndrome
Small scrotum, Small hand, Postaxial foot polydactyly, Supernumerary nipple, Cryptorchidism, Hypo... OMIM:601803
Loeys-Dietz Syndrome
Arachnodactyly, Uterine rupture, Camptodactyly of finger ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Bladder... ORPHA:286
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649

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 Snd1

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 Snd1.

No publications found that use IMPC mice or data for Snd1.

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MGI Allele Allele Type Produced
Snd1em1(IMPC)Tcp Exon Deletion Mice, Tissue

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