Gene Summary

Name:
COP9 signalosome subunit 7A
Synonyms:
COP9 complex S7a,  D6Ertd35e

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
improved glucose tolerance Cops7atm1b(KOMP)Mbp HOM Early adult 3.95×10-05
decreased prepulse inhibition Cops7atm1b(KOMP)Mbp HOM   Early adult 8.82×10-06
abnormal urinary bladder morphology Cops7atm1b(KOMP)Mbp HOM Early adult 0.00
increased monocyte cell number Cops7atm1b(KOMP)Mbp HOM   Early adult 5.21×10-05
decreased blood urea nitrogen level Cops7atm1b(KOMP)Mbp HOM   Early adult 4.81×10-07
hyperactivity Cops7atm1b(KOMP)Mbp HOM Early adult 2.11×10-07
enlarged heart Cops7atm1b(KOMP)Mbp HOM Early adult 0.00
decreased thigmotaxis Cops7atm1b(KOMP)Mbp HOM Early adult 6.97×10-08
increased heart weight Cops7atm1b(KOMP)Mbp HOM Early adult 1.05×10-05
abnormal behavior Cops7atm1b(KOMP)Mbp HOM Early adult 8.13×10-08
abnormal heart morphology Cops7atm1b(KOMP)Mbp HOM Early adult 0.00
abnormal uterus morphology Cops7atm1b(KOMP)Mbp HOM Early adult 0.00
abnormal eye morphology Cops7atm1b(KOMP)Mbp HOM Early adult 0.00
male infertility Cops7atm1b(KOMP)Mbp HOM Early adult 0.00
hydrometra Cops7atm1b(KOMP)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mesenteric adipose tissue  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

102 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Human diseases caused by Cops7a 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 Cops7a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... OMIM:614470
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Ethanolaminosis
Cardiomegaly OMIM:227150
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly... OMIM:619644
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Atrioventricular ... DECIPHER:39
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility ORPHA:98797
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia OMIM:616871
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ... ORPHA:66624
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypopla... OMIM:612541
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardi... OMIM:235200
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... OMIM:614172
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... ORPHA:3000
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology ORPHA:85447
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Heparan sulfate exc... OMIM:252920
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Bilateral... ORPHA:90797
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Ventricular septal defect, Unilateral renal agenesis, Aggressive behavior, Precoci... ORPHA:3306
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Classic Galactosemia
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Hypoglycemia, Decreased fertilit... ORPHA:79239
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome OMIM:269920
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Recurrent hypoglycemia, Endoca... OMIM:212140
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro... ORPHA:3077
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly ORPHA:858
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Hsd10 Disease, Infantile Type
Restlessness, Hypoglycemia, Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Abnormal concen... ORPHA:391428
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea... ORPHA:168563
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Cardio... ORPHA:42
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Pulmon... OMIM:620141
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Amed Syndrome, Digenic
Acute myeloid leukemia, Thrombocytopenia, Hypoplasia of the uterus, Leukopenia, Attention deficit... OMIM:619151
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
46,Xy Sex Reversal 11
Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal... OMIM:273250
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardi... ORPHA:465508
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Hypoglycemia, Cardiomegaly OMIM:614702
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Dextrocardia, Male infertility, Situs inversus totalis OMIM:618948
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Premature Ovarian Failure 7
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplasia of the uter... OMIM:612964
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Mitral valve prolapse, Irritab... ORPHA:449291
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Oligozoospermia, Azoos... ORPHA:8
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Attention deficit hyperactivity disorder, Depression OMIM:618798
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Anemia, Cardiomegaly OMIM:618838
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Septate vagina, Uterus didelph... ORPHA:2237
Cardiac-Urogenital Syndrome
Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... OMIM:618280
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Premature Ovarian Failure 13
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Leukocytosis, Acute kidney injury, Congenital thrombocytopenia, Anemia OMIM:618886
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... OMIM:603903
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Timothy Syndrome
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Hypoketotic hypoglycemia OMIM:255120
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Estrogen Resistance
Impaired glucose tolerance, Hyperinsulinemia, Primary amenorrhea, Polycystic ovaries, Hypoplasia ... OMIM:615363
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Male infertility OMIM:300991
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy... OMIM:616897
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Car... OMIM:201475
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega... OMIM:602782
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Short sperm flagella, Coiled sperm flagella, Male infertility OMIM:620197
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... OMIM:266810
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina... OMIM:158330
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular acidosis, Uterus dide... OMIM:146255
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Clitoral hypertrophy, Neonatal hypoglycemia, Renal salt wasting, Female external genitalia in ind... ORPHA:168558
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility OMIM:619949
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Clitoral hypertrophy, Neonatal hypoglycemia, Renal salt wasting, Female external genitalia in ind... ORPHA:289548
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Premature Ovarian Failure 18
Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Hypoplasia of the ... OMIM:619203
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Proteinuria, Unilateral renal agenesis, Impaired glucose toleranc... OMIM:137920
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu... OMIM:601186
Refsum Disease, Classic
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly OMIM:266500
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Abnormal cardiac septum morphology, Aplasia of the uterus, Tetralogy of Fallot,... ORPHA:3320
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, R... OMIM:227650
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Attention deficit hyperactivity di... OMIM:617914
Perrault Syndrome 4
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplasia of the uter... OMIM:615300
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus, Anemia ORPHA:99927
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Primary Ciliary Dyskinesia
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Asplen... ORPHA:244
Ciliary Dyskinesia, Primary, 14
Male infertility, Situs inversus totalis, Polysplenia, Immotile sperm, Reduced sperm motility OMIM:613807
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:614129
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Premature ovarian insufficiency, Primary ameno... OMIM:619665
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Dysmenorrhea, Decreased fe... ORPHA:90796
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Hypoglycemia, L... OMIM:608836
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, At... ORPHA:79330
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... OMIM:306955
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Corona... OMIM:614294
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Male infertility OMIM:612444
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... ORPHA:228308
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Addictive alcohol use, Left ventricular hype... ORPHA:57777
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Mucopolysaccharidosis Type 3
Hepatomegaly, Hyperactivity, Aggressive behavior, Cardiomegaly, Hypersexuality, Splenomegaly, Hep... ORPHA:581
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Sandhoff Disease
Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Impotence OMIM:268800
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... ORPHA:1772
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly, Depression OMIM:619259
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hyperinsulinemia, Primary amenorrhea, Hypoplasia of the uterus, Gluc... ORPHA:785
Lumbar Syndrome
Bifid scrotum, Ambiguous genitalia, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia ... ORPHA:83628
Spermatogenic Failure 28
Non-obstructive azoospermia, Decreased testicular size, Male infertility OMIM:618086
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Male infertility, Immotile sperm OMIM:614874
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Impotence, Urinary incontinence, Cardiomegaly OMIM:105210
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Noc... ORPHA:85450
Exstrophy-Epispadias Complex
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Penoscrotal t... ORPHA:322
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidi... OMIM:130650
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Thrombocytopenia OMIM:608013
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Hepatomegaly, Inappropriate laughter, Cardiomegaly OMIM:618143
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly OMIM:614473
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... ORPHA:96191
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genitalia, female, Abnor... ORPHA:90794
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Pica,... OMIM:614527
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Dilated cardiomyopathy, Hydr... OMIM:614921
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Cardiomegaly, Right ventricular hypertrophy, Dysphagia ORPHA:268
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus, Polycystic kidney dysplasia, Single ventricle OMIM:619879
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Iron defic... OMIM:300855
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Male infertility OMIM:619607
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Oeis Complex
Hydroureter, Bifid uterus, Epispadias, Vesicovaginal fistula, Ambiguous genitalia, female, Crypto... OMIM:258040
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega... OMIM:300967
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Ventricular septal defect, Eosinophilia, Leukocytosis, Vesicoureteral reflu... OMIM:274000
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content,... OMIM:261740
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Attention deficit hyperactivity disorder, Aplasia of... OMIM:614083
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Male infertility OMIM:614935
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... ORPHA:3109
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly OMIM:617022
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Renal cyst, Polycystic ovaries ORPHA:137675
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid... OMIM:230000
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Hypoplasia of the uterus, Ch... OMIM:309801
Meckel Syndrome 12
Hypoplasia of the uterus, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia OMIM:616258
Aicardi-Goutières Syndrome
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia... ORPHA:51
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... ORPHA:308552
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia OMIM:617466
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Hyperactivity, Aplasia of the vagina, Unilateral renal agenesis ORPHA:457284
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Hypoglycemia, Neonatal hypoglycemia, Cardiomegaly, Splenomega... ORPHA:116
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Fatigable weakness of respiratory muscles, Fatiga... ORPHA:365
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Nephrocalcinosis, Compulsive behaviors,... ORPHA:904
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior... ORPHA:353281
Okamoto Syndrome
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus... ORPHA:2729
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Hypospadias, Cardiomegaly, Thro... OMIM:619991
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Irregular menstruation, Hypoplasia of the ut... OMIM:110100
Glycogen Storage Disease Ii
Hepatomegaly, Splenomegaly, Urinary incontinence, Cardiomegaly OMIM:232300
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Pontocerebellar Hypoplasia Type 7
Fatigable weakness of skeletal muscles, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgen... ORPHA:284339
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Premature ovarian insufficiency, Insulin-resistan... ORPHA:3464
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Diabetes ... ORPHA:125
Woodhouse-Sakati Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of t... OMIM:241080
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl... OMIM:252500
Ciliary Dyskinesia, Primary, 1
Asplenia, Male infertility, Situs inversus totalis OMIM:244400
Coffin-Siris Syndrome 1
Hydroureter, Ventricular septal defect, Hypospadias, Aggressive behavior, Ectopic kidney, Cryptor... OMIM:135900
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Impaired glucose tolerance, Cardiomegaly, Microcytic anemia, Splenomegaly, Epididym... OMIM:256040
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Anemia ORPHA:14
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:609441
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... ORPHA:3472
Norrie Disease
Diabetes mellitus, Cryptorchidism, Irritability, Self-injurious behavior, Attention deficit hyper... ORPHA:649
Wolf-Hirschhorn Syndrome
Accessory spleen, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Apl... OMIM:194190
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypercalciuria ORPHA:2239
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypo... OMIM:107480
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular... OMIM:236680
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Urinary retention, Cardiomegaly ORPHA:97297
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Unilateral renal agenesis, Hypoplasia of the uterus, Hypoplastic labia majora, ... OMIM:618419
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin... OMIM:130050
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Limb-Mammary Syndrome
Primary amenorrhea, Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility... ORPHA:572333
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Hypoglycemia, Cryptorchidism, Hors... OMIM:201750
Neu-Laxova Syndrome 1
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat... OMIM:256520
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular... OMIM:163950
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicuspid pulmona... ORPHA:709
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Myocardial calcif... ORPHA:51608
Cystic Fibrosis
Male infertility, Hepatomegaly, Cor pulmonale, Hypercalciuria, Hepatosplenomegaly OMIM:219700
Vascular Ehlers-Danlos Syndrome
Hypospadias, Abnormal heart valve morphology, Cryptorchidism, Cystocele, Renovascular hypertensio... ORPHA:286
Peters-Plus Syndrome
Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Ventricular septal defect, Cryptorch... OMIM:261540
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus OMIM:276820
Pallister-Killian Syndrome
Small scrotum, Ventricular septal defect, Hypospadias, Cryptorchidism, Renal cyst, Hypoplastic la... OMIM:601803
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250

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.

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological entity term cataract Cops7atm1b(KOMP)Mbp HOM Early adult
Small intestine - MPATH pathological process term chronic inflammation Cops7atm1b(KOMP)Mbp HOM Early adult

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 Cops7a.

No publications found that use IMPC mice or data for Cops7a.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Cops7atm1b(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Cops7atm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Cops7atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cops7atm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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