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Gene: Sbf1 MGI:1925230

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Gene Summary

Name:
SET binding factor 1
Synonyms:
2610510A08Rik,  B230113C15Rik,  Mtmr5

Order Alleles

IMPC Data Collections

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
decreased anxiety-related response Sbf1em1(IMPC)Mbp HOM   Early adult 1.06×10-05
small testis Sbf1em1(IMPC)Mbp HOM Early adult 0.00
decreased brain size Sbf1em1(IMPC)Mbp HOM Early adult 0.00
male infertility Sbf1em1(IMPC)Mbp HOM Early adult 0.00
decreased body length Sbf1em1(IMPC)Mbp HOM Early adult 2.55×10-11
small liver Sbf1em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Sbf1em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Sbf1em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Sbf1em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Sbf1em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Sbf1em1(IMPC)Mbp HOM Early adult 0.00
abnormal brain morphology Sbf1em1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Sbf1em1(IMPC)Mbp HOM   Early adult 2.95×10-07
enlarged heart Sbf1em1(IMPC)Mbp HOM Early adult 0.00
decreased brain weight Sbf1em1(IMPC)Mbp HOM Early adult 4.81×10-35
decreased prepulse inhibition Sbf1em1(IMPC)Mbp HOM   Early adult 4.42×10-10
decreased thigmotaxis Sbf1em1(IMPC)Mbp HOM   Early adult 1.73×10-07
urinary bladder obstruction Sbf1em1(IMPC)Mbp HOM Early adult 0.00
abnormal behavior Sbf1em1(IMPC)Mbp HOM   Early adult 2.36×10-07
increased grip strength Sbf1em1(IMPC)Mbp HOM   Early adult 5.01×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

33 Images

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Human diseases caused by Sbf1 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.

The table below shows human diseases associated to Sbf1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity OMIM:615284

The table below shows human diseases predicted to be associated to Sbf1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 46
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... OMIM:619095
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Spermatogenic Failure 64
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility OMIM:619696
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... OMIM:619949
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Immotile sperm, Male infertility, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
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 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... ORPHA:52901
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Spermatogenic Failure 26
Acephalic spermatozoa, Infertility OMIM:617961
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Spermatogenic Failure 16
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617644
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 24
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... OMIM:617959
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein... OMIM:301077
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility, Type II diabetes mellitus OMIM:615703
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility ORPHA:481
Hemochromatosis, Type 2A
Amenorrhea, Hypogonadotropic hypogonadism, Infertility, Azoospermia OMIM:602390
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Aa Amyloidosis
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of t... ORPHA:85445
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... ORPHA:432
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... OMIM:615415
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... OMIM:278850
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... ORPHA:8
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... ORPHA:753
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo... ORPHA:261519
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Ethanolaminosis
Cardiomegaly OMIM:227150
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... ORPHA:280679
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
48,Xyyy Syndrome
Azoospermia, Male hypogonadism, Primary gonadal insufficiency ORPHA:99329
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr... ORPHA:752
Ciliary Dyskinesia, Primary, 40
Azoospermia, Infertility, Absent outer dynein arms OMIM:618300
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Infertility, Diabetes insipidus ORPHA:1445
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepatomegaly, Hepatic calcif... OMIM:608836
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Azoospermia, Decreased response to growth hormone stimulation tes... OMIM:300845
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Decr... ORPHA:10
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Morm Syndrome
Abnormality of the kidney, Hyperactivity, Aggressive behavior, Micropenis ORPHA:75858
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... OMIM:314390
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Patent urachus, Unilateral crypt... OMIM:618280
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Blind vagina, Atrial ... OMIM:608978
8p23.1 deletion syndrome
Atrial septal defect, Hyperactivity, Atrioventricular canal defect, Cryptorchidism, Abnormal hear... DECIPHER:39
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Neph... OMIM:130650
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Classic Galactosemia
Hepatomegaly, Hepatic failure, Depression, Anxiety, Primary amenorrhea, Oligomenorrhea, Decreased... ORPHA:79239
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Atrial septal defect, Splenomegaly, Renal tubular at... OMIM:617303
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged kidney, Insulin-resistant diabetes me... ORPHA:90301
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Impotence, Decreased serum testosterone concentration, Cryptorchidism, Small pituita... ORPHA:2232
Alg9-Cdg
Ureteral hypoplasia, Hepatomegaly, Periportal fibrosis, Atrial septal defect, Inappropriate cryin... ORPHA:79328
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Cholangiocarcinoma, Apathy, Hepatomegaly, Testicular atrophy, Decreased ... ORPHA:465508
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Hypothyroidism, Elevated hepatic ... OMIM:617713
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... OMIM:306955
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Splenomegaly, Heparan sulfate excretion in urine, Aggressive behavio... OMIM:252920
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Glycine Encephalopathy
Impulsivity, Hyperactivity, Hyperglycinuria, Aggressive behavior, Irritability OMIM:605899
Glycogen Storage Disease Ib
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... OMIM:232220
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Leydig cell n... ORPHA:361
Endocrine-Cerebroosteodysplasia
Sex reversal, Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Ambiguous genital... OMIM:612651
H Syndrome
Amenorrhea, Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Decreased... ORPHA:168569
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Hyperactivity, Unilateral renal agenesis, Gonadal dysgenesis, Tetralogy of Fa... ORPHA:3306
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Ureteral obstruction, Hematuria, Renal inte... ORPHA:449395
Diaphanospondylodysostosis
Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Nephroblast... OMIM:608022
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Hyperprolinemia, Type I
Hydroxyprolinuria, Prolinuria, Hyperactivity, Hyperglycinuria, Aggressive behavior OMIM:239500
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Decreased testicular size, Hypogonad... ORPHA:96263
Glycogen Storage Disease Ia
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatocellular... OMIM:232200
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... ORPHA:731
Kaposiform Lymphangiomatosis
Splenomegaly, Metrorrhagia, Abnormal spleen morphology, Hepatosplenomegaly, Multiple renal cysts,... ORPHA:464329
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... ORPHA:91348
Tyrosinemia, Type I
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Acute hepatic failure, Hepatocellular car... OMIM:276700
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadi... ORPHA:300298
49,Xxxxy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Decreased testicular size, Hypogonad... ORPHA:96264
Attrv30M Amyloidosis
Impotence, Abnormal renal physiology, Nephropathy, Cardiomyopathy, Cardiomegaly ORPHA:85447
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Thyroiditis, Pancreatitis, Hepatomegaly, Increased hepatic glycogen content, Hep... ORPHA:79259
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... ORPHA:3077
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pol... OMIM:200995
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nephrolithiasis, Self-injurious behavior, Hyperactivity, Inappropriate behavior, Self-biting, Nai... OMIM:619827
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
8P11.2 Deletion Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axi... ORPHA:251066
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Enlarged kidney, Adrenocortical ... ORPHA:116
16P12.1P12.3 Triplication Syndrome
Skin-picking, Atrial septal defect, Decreased response to growth hormone stimulation test, Hypera... ORPHA:485405
Ogden Syndrome
Hydrocele testis, Global glomerulosclerosis, Bicuspid aortic valve, Microvesicular hepatic steato... OMIM:300855
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Proteinuria, De... ORPHA:251004
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Micropenis, Hypospadias, Aggressive behavior, Decreased testicular size, Emotional... OMIM:300354
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Atrial septal defect, Hepatosplenomegaly, Heparan sulfate excretion in urine,... ORPHA:505248
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Fatigable weakness of neck muscles, Hepatomegaly, Fatigable weakness, D... ORPHA:42
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transaminase, Decreased carnitine leve... OMIM:212140
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cardiomegaly ORPHA:858
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Delayed puberty ORPHA:90646
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Fragile X Syndrome
Hyperactivity, Self-biting, Mitral valve prolapse, Macroorchidism, postpubertal, Congenital macro... OMIM:300624
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis ORPHA:2239
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Hyperactivity, Elevated urinary 4-hydroxybutyric acid, Anxiety, Increase... OMIM:271980
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggressive behavior, Cryptorchidism,... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Micropenis, Ventricular septal defect, Attention deficit hyperactivity disorder, C... OMIM:618504
Leprechaunism
Hyperinsulinemia, Hepatomegaly, Hypercalciuria, Long penis, Enlarged kidney, Enlarged ovaries, In... ORPHA:508
Familial Atrial Myxoma
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Jaundice, Cardiomegaly, Cardiac myxoma ORPHA:615
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism, Hyperactivity, Bipolar affective disorder, Attention deficit hyperactivity disorder OMIM:619927
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glom... ORPHA:85450
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Neuraminidase Deficiency
Hepatomegaly, Splenomegaly, Urinary excretion of sialylated oligosaccharides, Increased urinary O... OMIM:256550
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Dilated cardiomyop... OMIM:600649
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Renal dysplasia, Enlarged kidney, Ambiguous genitalia, Polycystic kidney dysplasia OMIM:613091
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Enlarged kidney, Mucopolysacchariduria, Hypertrophic cardiomyopathy, ... OMIM:252500
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Aromatase Deficiency
Ambiguous genitalia, female, Female infertility, Type II diabetes mellitus, Hypergonadotropic hyp... ORPHA:91
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosis, Cardiomegaly OMIM:255120
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Nephroblastoma, Cardiomegaly, Pericardial constriction OMIM:253250
Beck-Fahrner Syndrome
Depression, Anxiety, Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiom... OMIM:618798
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Bilateral cryptorchidism, ... OMIM:618652
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly OMIM:619064
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Dicarboxylic aciduria, Exercise-induc... OMIM:201475
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... OMIM:614921
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hypoplasia of penis, Hyperactivity, Cryptorchidism, Paroxysmal bursts of... ORPHA:228402
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity, Macroorchidism OMIM:300143
Stankiewicz-Isidor Syndrome
Hyperactivity, Micropenis, Hypospadias, Ureteral duplication, Ventricular septal defect, Shawl sc... OMIM:617516
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Urinary bladder sphincter dysfunction, Inappropriate sexual behavior, Impo... ORPHA:43
Wolfram Syndrome 1
Testicular atrophy, Hydroureter, Neurogenic bladder, Hypothyroidism, Hydronephrosis, Diabetes mel... OMIM:222300
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Priapism, Splenomegaly, Hematuria, Renal insufficiency, Jaundice, C... OMIM:603903
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic failure, Hepatic calcification, Myoglobinuria, Cystic renal dysplasia, Red-... ORPHA:228308
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Nephroblastoma, Abnormal right ventricle morphology, Bifid ureter, ... ORPHA:500095
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Increased hepatic glycogen content, Depression, 3-Methylglutaconic aciduria, Cardiomyopathy, Card... OMIM:619259
19P13.12 Microdeletion Syndrome
Precocious puberty, Self-injurious behavior, Atrial septal defect, Hyperactivity, Hypospadias, Ve... ORPHA:254346
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Patent foramen ovale, Cardiomegaly OMIM:601005
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hepatoblastoma, Atrial septal defect, Splenomegaly, Right ventricular hypertrophy, ... OMIM:312870
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Citrullinemia Type Ii
Pancreatitis, Hepatomegaly, Hyperactivity, Delayed menarche, Hepatocellular carcinoma, Elevated h... ORPHA:247585
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Hyp... ORPHA:391428
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior ORPHA:101039
Bloom Syndrome
Azoospermia, Cryptorchidism, Type II diabetes mellitus, Decreased fertility in females OMIM:210900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Ventricular septal defect, Hydronephrosis, Hypertrophic cardiomyopathy, ... OMIM:616897
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... ORPHA:786
Pediatric-Onset Graves Disease
Graves disease, Hepatomegaly, Hyperactivity, Splenomegaly, Increased circulating free T3, Increas... ORPHA:525731
Amyloidosis, Hereditary, Transthyretin-Related
Impotence, Cardiomyopathy, Cardiomegaly, Urinary incontinence OMIM:105210
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Hyperthyroidism, Depression, Anxiety, Hypothyroidism, Mit... ORPHA:449291
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... OMIM:305400
Rauch-Steindl Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hyperactivity, Bilateral renal hypoplasia, Anxie... OMIM:619695
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... OMIM:157640
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Hyperactivity, Increased circulating... OMIM:275000
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Self-mutilation, Micropenis, Cryptorchidism, Microphallus, Small scrotum, Low frus... OMIM:300486
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Atrial septal defect, Decreased response to growth hormone stimulation test, Spleno... OMIM:602782
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Hypothyroidism, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Tuberous Sclerosis Complex
Hepatic cysts, Stage 5 chronic kidney disease, Self-injurious behavior, Hyperactivity, Depression... ORPHA:805
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Hepatomegaly, Hyperactivity, Self-mutilation, Low frustration tolerance, Aggr... ORPHA:163681
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Hyperactivity, Aggressive behavior, Decreased ... ORPHA:85327
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Hyperactivity, Micropenis, Aggressive behavior, Cryptorchidism, Vesicourete... OMIM:609625
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Renal agenesis, Abnormal renal morphology, Male infertility, Hors... OMIM:227650
Argininemia
Oroticaciduria, Hepatomegaly, Micronodular cirrhosis, Hyperactivity, Diaminoaciduria, Cholestasis... OMIM:207800
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inappropriate crying, Inappropriate laughter, Cryptorchidism, Cardiomegaly OMIM:618143
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperinsulinemia, Decreased response to growth hormone stimulation test... ORPHA:3464
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly, Abnormal renal physiology OMIM:266500
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Hyperactivity, Dilatation of renal calices, Ventricular septa... OMIM:614294
Bloom Syndrome
Oligospermia, Male infertility, Diabetes mellitus, Azoospermia, Premature ovarian insufficiency ORPHA:125
Mogs-Cdg
Hydrocele testis, Hepatomegaly, Atrial septal defect, External genital hypoplasia, Inappropriate ... ORPHA:79330
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegal... ORPHA:255249
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly OMIM:239850
Sandhoff Disease
Impotence, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Urinary incontinence OMIM:268800
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal ... OMIM:252900
Fanconi Anemia
Absent testis, Bicornuate uterus, Abnormal preputium morphology, Decreased fertility in males, Hy... ORPHA:84
Liver Disease, Severe Congenital
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Pancreatic hy... OMIM:619991
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Female infertility, Situs inver... ORPHA:244
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hepatomegaly, Hyperactivity, Fatigable weakness of swallowing m... ORPHA:581
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Self-biting, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Macroorchidism, Hyperactivity, Ventricular septal defect, Aggressive behavi... OMIM:309520
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Testicular atrophy, Self-injurious behavior OMIM:300322
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Cirrhosis, Left ventricular hypertrophy, Left atrial enla... ORPHA:57777
Gaucher Disease, Perinatal Lethal
Apathy, Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Cardiomegaly OMIM:608013
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... ORPHA:85451
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Diphallia
Distal urethral duplication, Bifid scrotum, Hypospadias, Rectoperineal fistula, Bifid penis, Ecto... ORPHA:227
Steinert Myotonic Dystrophy
Cholelithiasis, Testicular atrophy, Impotence, Hyperinsulinemia, Hypergonadotropic hypogonadism, ... ORPHA:273
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Abnormal cardiac septum morphology, Abnormality of the thyroid gland, Atrial ... ORPHA:209905
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... OMIM:300257
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Williams Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Ventricular septal defect, Proteinuria, Polyc... ORPHA:904
Distal Monosomy 12Q
Annular pancreas, Pituitary adenoma, Congenital hypertrophy of left ventricle, Hyperactivity, Mic... ORPHA:96149
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Elevated circulating alanine amin... ORPHA:308552
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Coffin-Siris Syndrome
Atrial septal defect, Hepatoblastoma, Hyperactivity, Hypospadias, Tetralogy of Fallot, Papillary ... ORPHA:1465
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Ab... ORPHA:363705
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Self-mutilation, Ventricular septal defect, Ambiguous genitalia, Small scrotum, Cho... OMIM:270400
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Fucosidosis
Glycopeptiduria, Hepatomegaly, Oligosacchariduria, Splenomegaly, Cardiomegaly OMIM:230000
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Cardiomegaly OMIM:618886
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Microvesicular hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Vent... OMIM:618278
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Impulsivity, Atrial septal defect, Right ventricul... OMIM:300967
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Hyperactivity, Micropenis, Unilateral renal agenesis, Hypospadias, Anxiety... ORPHA:464306
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes ... ORPHA:96191
Distal Trisomy 17Q
Hyperactivity, Accessory spleen, Renal duplication, Cryptorchidism, Vesicoureteral reflux, Abnorm... ORPHA:3379
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Happy demeanor, Nephroblast... ORPHA:97297
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Overriding aorta, Cardiomegaly OMIM:617022
Tetrasomy 9P
Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Infertility, Hyperactivity,... ORPHA:3310
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Agoraphobia, Ventricular septal defect, Emotional lability, Abnormal heart morphology, Nephrolith... ORPHA:353281
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Cardiomegaly OMIM:618838
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Hematuria, Proteinuria, Stage 5 chro... OMIM:219800
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Hyperaldosteronism, Delayed puberty, Azoospe... ORPHA:534
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Legius Syndrome
Nephrolithiasis, Ovarian neoplasm, Hyperactivity, Male urethral meatus stenosis, Pulmonic stenosi... ORPHA:137605
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Maternal Phenylketonuria
Double outlet right ventricle, Hyperactivity, Hypoplastic left heart, Tetralogy of Fallot, Bladde... ORPHA:2209
Aicardi-Goutières Syndrome
Micropenis, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Hypothyroidism, Elevated hepatic tra... ORPHA:51
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Renal cyst, Polycystic ovaries, Cardiomegaly ORPHA:137675
Microcephaly 29, Primary, Autosomal Recessive
Hyperechogenic kidneys, Hyperactivity, Reduced renal corticomedullary differentiation, Emotional ... OMIM:620047
Glycogen Storage Disease Ii
Hepatomegaly, Splenomegaly, Cardiomegaly, Urinary incontinence OMIM:232300
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Azoospermia, Delayed puberty ORPHA:2072
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Elevated circulating alanine amin... ORPHA:365
Abetalipoproteinemia
Hepatomegaly, Cirrhosis, Hypothyroidism, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic... ORPHA:14
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:1517
Cystic Fibrosis
Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Cor... OMIM:219700
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... OMIM:245600
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hydrocele testis, Agoraphobia, Ventricular septal defect, Emotional lability, Abnormal heart morp... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hydrocele testis, Agoraphobia, Ventricular septal defect, Emotional lability, Abnormal heart morp... ORPHA:353277
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
Choreoacanthocytosis
Apathy, Head-banging, Hepatomegaly, Self-injurious behavior, Irritability, Splenomegaly, Depressi... ORPHA:2388
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly, Renal artery stenosis OMIM:208000
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Abnormality of the hepatic vasculature, Hepatomegaly, Right ventricular... ORPHA:1677
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormality of the thymus, Cardiomegaly ORPHA:2463
Generalized Arterial Calcification Of Infancy
Medullary nephrocalcinosis, Hepatic calcification, Adrenal calcification, Pancreatic calcificatio... ORPHA:51608
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Splenomegaly, Irregular menstruation, Elevated hepatic transaminase, Epididymitis, ... OMIM:256040
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Yunis-Varon Syndrome
Atrial septal defect, Micropenis, Hypospadias, Tetralogy of Fallot, Renovascular hypertension, Ve... ORPHA:3472
Truncus Arteriosus
Adrenocortical abnormality, Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:3384
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... ORPHA:980
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... ORPHA:75565
Noonan Syndrome 1
Atrial septal defect, Pulmonic stenosis, Hypospadias, Ventricular septal defect, Male infertility... OMIM:163950
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Singleton-Merten Syndrome 1
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... OMIM:182250
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity OMIM:615284

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 Sbf1

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 Sbf1.

No publications found that use IMPC mice or data for Sbf1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Sbf1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Sbf1em1(IMPC)Mbp Intra-exon deletion Mice

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