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Gene: Sbf1 MGI:1925230

Gene Summary

Name:

SET binding factor 1

Synonyms:

2610510A08Rik, B230113C15Rik, Mtmr5

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased neutrophil cell number	Sbf1^em1(IMPC)Mbp	HOM	Early adult	6.03×10^-08
enlarged heart	Sbf1^em1(IMPC)Mbp	HOM	Early adult	0.00
increased bone mineral content	Sbf1^em1(IMPC)Mbp	HOM	Early adult	7.99×10^-07
hyperactivity	Sbf1^em1(IMPC)Mbp	HOM	Early adult	4.85×10^-06
decreased brain weight	Sbf1^em1(IMPC)Mbp	HOM	Early adult	5.54×10^-35
urinary bladder obstruction	Sbf1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal behavior	Sbf1^em1(IMPC)Mbp	HOM	Early adult	3.35×10^-06
abnormal brain morphology	Sbf1^em1(IMPC)Mbp	HOM	Early adult	0.00
increased red blood cell distribution width	Sbf1^em1(IMPC)Mbp	HOM	Early adult	5.46×10^-05
decreased lymphocyte cell number	Sbf1^em1(IMPC)Mbp	HOM	Early adult	6.85×10^-05
decreased fasting circulating glucose level	Sbf1^em1(IMPC)Mbp	HOM	Early adult	3.29×10^-10
enlarged kidney	Sbf1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased brain size	Sbf1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased body length	Sbf1^em1(IMPC)Mbp	HOM	Early adult	1.01×10^-19
male infertility	Sbf1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased anxiety-related response	Sbf1^em1(IMPC)Mbp	HOM	Early adult	3.98×10^-07
decreased prepulse inhibition	Sbf1^em1(IMPC)Mbp	HOM	Early adult	2.82×10^-10
abnormal kidney morphology	Sbf1^em1(IMPC)Mbp	HOM	Early adult	0.00
increased grip strength	Sbf1^em1(IMPC)Mbp	HOM	Early adult	5.50×10^-05
abnormal testis morphology	Sbf1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased thigmotaxis	Sbf1^em1(IMPC)Mbp	HOM	Early adult	3.47×10^-06
small liver	Sbf1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased circulating alkaline phosphatase level	Sbf1^em1(IMPC)Mbp	HOM	Early adult	2.46×10^-05
abnormal liver morphology	Sbf1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Sbf1^em1(IMPC)Mbp	HOM	Early adult	0.00
small testis	Sbf1^em1(IMPC)Mbp	HOM	Early adult	0.00

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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.

Human diseases associated with Sbf1 (1 diseases)
Human diseases predicted to be associated with Sbf1 (541 diseases)

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	Matching phenotypes	Source
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism	OMIM:261550
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size...	OMIM:619044
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
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 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre...	OMIM:618086
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he...	OMIM:618433
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Young Syndrome	Azoospermia	OMIM:279000
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm...	OMIM:620356
Androgen Insensitivity, Partial	Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi...	OMIM:312300
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
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	Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon...	OMIM:614840
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia	OMIM:615703
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni...	OMIM:619902
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea	OMIM:602390
Adrenal Hypoplasia, Congenital	Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ...	OMIM:300200
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles...	OMIM:615382
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism	ORPHA:2183
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia...	OMIM:308700
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas...	ORPHA:432
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231226
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu...	OMIM:278850
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph...	ORPHA:85445
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc...	ORPHA:8
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis...	ORPHA:67044
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia, Absent outer dynein arms	OMIM:618300
Maternal Uniparental Disomy Of Chromosome X	Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for...	ORPHA:261519
Hemochromatosis, Type 1	Impotence, Elevated circulating hepatic transaminase concentration, Increased circulating iron co...	OMIM:235200
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A...	ORPHA:86841
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De...	ORPHA:280679
48,Xyyy Syndrome	Male hypogonadism, Primary gonadal insufficiency, Azoospermia	ORPHA:99329
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo...	OMIM:232220
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Hypertrophic cardiomyopathy, Leuk...	OMIM:617303
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatic steatosis, Polycystic ovaries, Tubulointerstitial fibrosis, Hepatomegaly, Chronic neutrop...	ORPHA:79259
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Anisocytosis, Lacticaciduria, Hepat...	OMIM:604273
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De...	ORPHA:99330
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Depression, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Ery...	OMIM:301310
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c...	OMIM:615415
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Reduced sperm motility, Recur...	ORPHA:730
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Hypertrophic cardiomyopathy...	OMIM:276700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz...	OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Classic Galactosemia	Hepatic failure, Depression, Elevated circulating hepatic transaminase concentration, Hypoglycemi...	ORPHA:79239
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Meckel Syndrome, Type 8	Hyperechogenic kidneys, Ambiguous genitalia, Pericardial effusion, Polycystic kidney dysplasia, E...	OMIM:613885
Ring Chromosome 21 Syndrome	Amenorrhea, Azoospermia, Diabetes insipidus, Infertility	ORPHA:1445
H Syndrome	Histiocytosis, Hypogonadism, Decreased testicular size, Azoospermia, Microcytic anemia, Hepatospl...	ORPHA:168569
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos...	OMIM:618278
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficien...	OMIM:604387
Ethanolaminosis	Cardiomegaly	OMIM:227150
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo...	OMIM:232200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Polyphagia, Episodic hemolytic anemia, Increased blood urea nitrogen, Membranoprolif...	ORPHA:251004
48,Xxyy Syndrome	Decreased testicular size, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Infertility, H...	ORPHA:10
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Symptomatic Form Of Hfe-Related Hemochromatosis	Hyperglycemia, Infertility, Cirrhosis, Hepatomegaly, Hypogonadotropic hypogonadism, Chronic hepat...	ORPHA:465508
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Metrorrhagia, Anemia, Abnormal spleen morphology, Multiple rena...	ORPHA:464329
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Azoospermia	OMIM:615234
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Diaphanospondylodysostosis	Delayed vertebral ossification, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Absent i...	OMIM:608022
Infantile Sialic Acid Storage Disease	Osteopenia, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome,...	OMIM:269920
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile...	ORPHA:731
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr...	OMIM:618280
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Igg4-Related Kidney Disease	Chronic kidney disease, Urethritis, Abnormal mesentery morphology, Hematuria, Prostatitis, Abnorm...	ORPHA:449395
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adren...	OMIM:130650
Immunodeficiency 53	Recurrent urinary tract infections, Impaired lymphocyte transformation with phytohemagglutinin, N...	OMIM:617585
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:98870
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se...	ORPHA:2232
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Cardiomyopathy, Dicarboxylic aciduria, Hypertrophi...	OMIM:212140
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ...	ORPHA:90301
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ...	OMIM:300845
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso...	ORPHA:71275
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Oroticaciduria, Ventricular septal defect, Hematuria, P...	OMIM:258900
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
8p23.1 deletion syndrome	Abnormal heart morphology, Atrioventricular canal defect, Cryptorchidism, Hyperactivity, Atrial s...	DECIPHER:39
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivit...	OMIM:252920
Alg9-Cdg	Periportal fibrosis, Hypoplasia of the bladder, Abnormal heart morphology, Hepatic cysts, Abnorma...	ORPHA:79328
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Meacham Syndrome	Hypoplastic left heart, Accessory spleen, Tetralogy of Fallot, Horseshoe kidney, Septate vagina, ...	OMIM:608978
Wolfram Syndrome 1	Hydroureter, Cardiomyopathy, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblas...	OMIM:222300
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma	OMIM:618272
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Abnormal heart morphology, Hypertrophic cardiomyopathy, Heparan sulfate excretio...	ORPHA:505248
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Beckwith-Wiedemann Syndrome	Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemia, Visceromegaly, ...	ORPHA:116
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Cardiomegaly, Anemia, Thrombocytopenia, ...	ORPHA:858
48,Xxxy Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C...	ORPHA:96263
Ogden Syndrome	Hyperbilirubinemia, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial sept...	OMIM:300855
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoketotic hypo...	OMIM:600649
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Clitoral hypertroph...	ORPHA:508
Reni Syndrome	Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogl...	OMIM:617575
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada...	OMIM:194080
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti...	OMIM:617091
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Epiphyseal stippling, Increased...	OMIM:256550
49,Xxxxy Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C...	ORPHA:96264
Phenylketonuria	Depression, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid ...	OMIM:261600
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus...	ORPHA:300298
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Unilateral renal agenesis, Gonadal dysgenesis, Tetralogy of Fallot, Hypogonad...	ORPHA:3306
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, H...	ORPHA:444463
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Craniosynostosis, Enlarged kidn...	OMIM:200995
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Renal insuffi...	OMIM:603903
Hyperparathyroidism, Transient Neonatal	Osteopenia, Unilateral renal agenesis, Hyperparathyroidism, Splenic cyst, Ovarian cyst, Subperios...	OMIM:618188
Congenital Erythropoietic Porphyria	Osteopenia, Red-brown urine, Purple urine, Unconjugated hyperbilirubinemia, Leukopenia, Increased...	ORPHA:79277
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter...	OMIM:314390
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hypert...	OMIM:201475
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Macro...	ORPHA:3077
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Tubulointerstitial f...	ORPHA:85450
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Recurrent urinary tract infections, Abnormal heart morphology, Decreased respo...	OMIM:615873
Citrullinemia Type Ii	Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Mania, Hypoproteinemia, ...	ORPHA:247585
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Hepatomegaly, Tubulointerstitial nephrit...	ORPHA:228308
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Ab...	ORPHA:251066
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Craniosynostosis, Congenital hypothyroidism, Hypoalbuminemia	ORPHA:88643
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, Splenomegaly, Cardi...	OMIM:252500
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal def...	OMIM:620210
Attrv30M Amyloidosis	Nephropathy, Cardiomyopathy, Cardiomegaly, Impotence, Abnormal renal physiology	ORPHA:85447
Hsd10 Disease, Infantile Type	Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Abnormality of the lower urinary tract...	ORPHA:391428
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,...	OMIM:300280
Endocrine-Cerebroosteodysplasia	Small scrotum, Microphallus, Hyperechogenic kidneys, Cryptorchidism, Ambiguous genitalia, Adrenal...	OMIM:612651
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased circula...	OMIM:618838
Ring Chromosome 22 Syndrome	Azoospermia	ORPHA:1446
Ciliary Dyskinesia, Primary, 18	Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility	OMIM:614874
Mirage Syndrome	Microphallus, Hypoglycemia, Radial club hand, Decreased testicular size, Lymphopenia, Leukopenia,...	OMIM:617053
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepatic failure,...	OMIM:619644
Deafness-Hypogonadism Syndrome	Delayed puberty, Hypergonadotropic hypogonadism, Abnormal spermatogenesis	ORPHA:90646
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Cardiomegaly, Left atrial enlargem...	ORPHA:57777
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce...	OMIM:614921
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Porphyria Due To Ala Dehydratase Deficiency	Depression, Abnormal fear-induced behavior, Purple urine, Increased urinary porphobilinogen, Abno...	ORPHA:100924
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial...	OMIM:261740
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Male infertility, Abnormal heart morphology, Horses...	OMIM:227650
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Elevated circulating C-re...	ORPHA:54251
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Ciliary Dyskinesia, Primary, 9	Absent outer dynein arms, Male infertility	OMIM:612444
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Polydipsia, Graves disease, Goiter, Pube...	ORPHA:525731
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility	ORPHA:2239
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni...	OMIM:226990
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Transient neutro...	ORPHA:500095
Mulibrey Nanism	Nephroblastoma, Cardiomegaly, Thickened cortex of long bones, Pericardial constriction, Hepatomeg...	OMIM:253250
Pseudo-Torch Syndrome 3	Acute kidney injury, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Pr...	OMIM:618886
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hyperprolinemia, Hyperalan...	OMIM:619064
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a...	OMIM:613807
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Relapsing Fever	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Abnormality of the ...	ORPHA:91547
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Hydronephrosis, Impulsivity, Attention deficit hyperactivity disorder, ...	OMIM:620141
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,...	OMIM:619991
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Lympho...	ORPHA:100
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Aromatase Deficiency	Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Ty...	ORPHA:91
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Argininemia	Portal fibrosis, Micronodular cirrhosis, Oroticaciduria, Cholestasis, Hyperammonemia, Hyperargini...	OMIM:207800
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Pericar...	OMIM:614702
Lesch-Nyhan Syndrome	Self-injurious behavior, Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Megal...	OMIM:300322
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Neutropenia, Thrombocytop...	ORPHA:859
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613091
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Elevated circulating asparta...	OMIM:620609
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia, Irritability, Aggressive behavior, Hyperactivity, Premature ovarian insufficiency, M...	ORPHA:391307
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype...	ORPHA:91351
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level...	ORPHA:90795
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Polydipsia, Renal insufficiency, Abnormality of circulating cortisol level, Dec...	ORPHA:320
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s...	OMIM:618652
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice	ORPHA:615
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Hypertrophic cardiomyopathy, Decreased skull ossification, Cardiomegaly, Ventricular ...	OMIM:616897
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Elevated circulating cre...	OMIM:617713
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Stankiewicz-Isidor Syndrome	Cryptorchidism, Truncus arteriosus, Ventricular septal defect, Pineal cyst, Hyperactivity, Shawl ...	OMIM:617516
Reticular Dysgenesis	Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis	OMIM:267500
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatomegaly	ORPHA:99931
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Legionnaires Disease	Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Hyponatremia, ...	ORPHA:549
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation...	OMIM:602782
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Splenomegaly, Hyperactivity, Hepatomegaly, Asymmetric septal ...	OMIM:252900
Bloom Syndrome	Azoospermia, Decreased fertility in females, Type II diabetes mellitus, Cryptorchidism	OMIM:210900
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Glucose into...	OMIM:219090
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegal...	OMIM:612541
Congenital Disorder Of Glycosylation, Type Iic	Compulsive behaviors, Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Hyperprolinemia	OMIM:619170
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent...	OMIM:620376
Timothy Syndrome	Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect,...	OMIM:601005
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Simpson-Golabi-Behmel Syndrome, Type 1	Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Hepatoblastoma, Atrial septal de...	OMIM:312870
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia...	OMIM:300539
Hemihyperplasia-Multiple Lipomatosis Syndrome	Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney, Nephroblastoma	ORPHA:276280
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Dysphag...	OMIM:219800
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Abnormal...	OMIM:616541
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Type I diabetes mellitus, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocy...	OMIM:620365
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Coronary artery fistula, Cryptorchidism, Macrocytic anemia, Ventricular septal defec...	OMIM:614294
Abetalipoproteinemia	Hypoalbuminemia, Osteopenia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentr...	ORPHA:14
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, A...	ORPHA:760
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatomegaly, 3-Me...	OMIM:557000
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, R...	OMIM:301110
Mogs-Cdg	External genital hypoplasia, Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypo...	ORPHA:79330
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Mitral va...	ORPHA:449291
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Osteopenia, Elevated circulating thyroid-stimulating hormone ...	OMIM:242900
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Abnormal temper tantrums, Fatigable weakness of swallowing muscles, He...	ORPHA:581
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Hepatitis, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Anorexia, Decreased proportion of CD3-p...	ORPHA:169160
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co...	ORPHA:829
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil c...	ORPHA:3226
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia	OMIM:619051
Beck-Fahrner Syndrome	Cardiomegaly, Attention deficit hyperactivity disorder, Depression, Ventricular septal defect	OMIM:618798
Familial Mediterranean Fever	Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Orchitis, Peritoni...	OMIM:249100
Sandhoff Disease	Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal...	OMIM:268800
Syndromic Diarrhea	Hepatic fibrosis, Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Lymphopenia, ...	ORPHA:84064
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Exocrine pancrea...	OMIM:617052
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Abnormal prop...	ORPHA:1830
Bloom Syndrome	Azoospermia, Oligozoospermia, Premature ovarian insufficiency, Diabetes mellitus, Male infertility	ORPHA:125
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Type I diabetes mellitus, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce...	OMIM:615688
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Hyperactivity, Polyuria, ...	OMIM:618314
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen...	OMIM:618986
Cantu Syndrome	Congenital hypertrophy of left ventricle, Cardiomegaly, Bicuspid aortic valve, Pericardial effusi...	OMIM:239850
Bone Marrow Failure Syndrome 6	Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Hypothyr...	OMIM:618849
Gaucher Disease, Perinatal Lethal	Hepatic failure, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, ...	OMIM:608013
Macrocephaly/Autism Syndrome	Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis	OMIM:605309
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphopenia, Hepa...	ORPHA:331206
Proteus Syndrome	Long penis, Thymus hyperplasia, Cranial hyperostosis, Diabetes insipidus, Neoplasm of the thymus,...	ORPHA:744
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Addictive alcohol use, Increased circulating procalcitonin concentratio...	ORPHA:36238
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Depression, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Card...	OMIM:619259
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Abscess, Splenomegaly, Elevated circulating C-reactive protein concentra...	OMIM:612852
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph...	ORPHA:324410
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hypoglycemia, Decreased liver function, Hyperglycemia, Partial atrioventricular ca...	OMIM:620423
Fanconi Anemia	Abnormality of the hypothalamus-pituitary axis, Abnormality of the uterus, Hypogonadism, Azoosper...	ORPHA:84
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula...	ORPHA:3464
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalem...	OMIM:613677
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe...	OMIM:115197
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Anorexia, Jaundice, Elevated circulating crea...	ORPHA:99826
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Biventricular hypertrophy, Patent foramen ovale, Nephrolithiasis, Ventricular septal defect, Decr...	OMIM:615474
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Renal hypoplasia, Severe B lymphocytopenia, Elevated circulat...	OMIM:620005
Refsum Disease, Classic	Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnormal renal ph...	OMIM:266500
Fucosidosis	Abnormality of the gallbladder, Cardiomegaly, Mucopolysacchariduria, Hypothyroidism, Hepatomegaly	ORPHA:349
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Recurrent urinary tract infections, Elevated urinary inosi...	OMIM:613179
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Type I diabetes mellitus, Functional abnormality of the bladder, Hepatitis, Lymphopen...	ORPHA:391487
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy...	OMIM:157640
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Inappropriate laughter, Cryptorchidism	OMIM:618143
Williams Syndrome	Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Poly...	ORPHA:904
Avian Influenza	Hypoalbuminemia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, He...	ORPHA:454836
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proporti...	ORPHA:90362
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess...	OMIM:618935
Glycogen Storage Disease Ii	Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatomegaly, Inc...	OMIM:232300
Primary Ciliary Dyskinesia	Abnormal sperm motility, Female infertility, Polysplenia, Atrial situs ambiguous, Abnormal heart ...	ORPHA:244
Herpes Simplex Virus Encephalitis	Leukocytosis, Hyponatremia, Addictive alcohol use, Neutrophilia, Elevated circulating C-reactive ...	ORPHA:1930
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Tuberous Sclerosis Complex	Chronic kidney disease, Cardiac rhabdomyoma, Renal angiomyolipoma, Parathyroid adenoma, Abnormali...	ORPHA:805
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Splenomegaly, ...	OMIM:602450
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets	OMIM:614473
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anorexia	ORPHA:1302
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatit...	OMIM:620565
Lujo Hemorrhagic Fever	Oliguria, Elevated circulating hepatic transaminase concentration, Lymphopenia, Leukopenia, Renal...	ORPHA:319213
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Smith-Lemli-Opitz Syndrome	Small scrotum, Cryptorchidism, Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial se...	OMIM:270400
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Mitral stenosis, Splenomegaly, Cardiomegaly, Mitral val...	OMIM:231005
Steinert Myotonic Dystrophy	Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, Emotional lability, Obsessive-c...	ORPHA:273
Glycogen Storage Disease Due To Acid Maltase Deficiency	Oligosacchariduria, Hypertrophic cardiomyopathy, Fatigable weakness of respiratory muscles, Eleva...	ORPHA:365
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Dilated cardiomyopathy, Biventricular hypertrophy, Lymphopenia, Atrioventricular...	OMIM:619573
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red c...	OMIM:102700
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentrati...	ORPHA:308552
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Osteopenia, Abnormal heart valve morphology, Ventricular septal defect, Ca...	ORPHA:363705
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, ...	ORPHA:231580
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Lymphopenia, Leukopenia, Decreased proportion of CD4-posi...	OMIM:242840
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Delayed epiphyseal ossification	OMIM:613320
Pgm3-Cdg	Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop...	ORPHA:443811
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Emotional lability, Hematuria, Neutrophilia, Hepatomegaly, Anorexia, Jaundice, Epid...	ORPHA:99827
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Cardiomegaly, Dysphagia, Right ventricular hy...	ORPHA:268
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Lymphopenia, Vesicoureteral reflux, Patent foramen ovale, Hydronephrosis, Renal...	OMIM:618460
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Urinary incontinence, Impotence, Cardiomyopathy	OMIM:105210
Legius Syndrome	Acute monocytic leukemia, Male urethral meatus stenosis, Mitral valve prolapse, Nephrolithiasis, ...	ORPHA:137605
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Cryptorchidism, Emotional lability, Ventricular septal defect, Bicuspid ao...	ORPHA:353281
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, Hy...	ORPHA:51
Cushing Disease	Depression, Abnormal libido, Increased circulating cortisol level, Increased urinary cortisol lev...	ORPHA:96253
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Portal fibrosis, Elevated circulating hepatic transaminase concentration,...	ORPHA:3260
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Abnormal circulating copper concentration, Glandular hypospadias, Abnormal circulat...	OMIM:620306
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Fucosidosis	Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria, Vacuolated lymphoc...	OMIM:230000
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Ventricular septal d...	OMIM:243150
Generalized Pustular Psoriasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Lymphopenia, Renal insu...	ORPHA:247353
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	OMIM:103900
Ataxia-Telangiectasia	Lymphopenia, Glucose intolerance, Decreased proportion of CD4-positive helper T cells, Abnormal B...	OMIM:208900
Choreoacanthocytosis	Acanthocytosis, Emotional lability, Hair-pulling, Elevated circulating alanine aminotransferase c...	ORPHA:2388
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Generalized osteoporosis, Osteopenia, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, ...	OMIM:245600
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, Hepatic necrosis, Ci...	OMIM:127550
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa...	OMIM:300967
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Renal insufficiency, Leukoc...	ORPHA:293173
Down Syndrome	Secundum atrial septal defect, Polycythemia, Tetralogy of Fallot, Atrioventricular canal defect, ...	ORPHA:870
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype...	ORPHA:99889
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
Histiocytoid Cardiomyopathy	Hypoglycemia, Polycystic ovaries, Cardiomegaly, Renal cyst, Ventricular septal defect, Hepatomegaly	ORPHA:137675
Proteasome-Associated Autoinflammatory Syndrome 1	Irregular menstruation, Elevated circulating hepatic transaminase concentration, Elevated circula...	OMIM:256040
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp...	ORPHA:534
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Hepatomegaly,...	OMIM:617591
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid...	ORPHA:96191
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Cystic Fibrosis	Osteopenia, Depression, Absent vas deferens, Elevated circulating hepatic transaminase concentrat...	ORPHA:586
Immunodeficiency 31C	Osteopenia, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Hypothyroidism, Delayed puber...	OMIM:614162
Diphallia	Penoscrotal transposition, Bifid scrotum, Ectopic scrotum, Cryptorchidism, Bifid penis, Rectoperi...	ORPHA:227
Psoriasis 14, Pustular	Elevated circulating C-reactive protein concentration, Cholangitis, Leukocytosis, Neutrophilia	OMIM:614204
Danon Disease	Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr...	OMIM:300257
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Abno...	ORPHA:906
Liddle Syndrome 1	Hypokalemia, Decreased circulating aldosterone level, Renal insufficiency, Decreased circulating ...	OMIM:177200
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect	OMIM:617022
Primary Sjögren Syndrome	Normocytic anemia, Thyroiditis, Depression, Biliary cirrhosis, Parotitis, Chronic active hepatiti...	ORPHA:289390
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Male infertility	OMIM:244400
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Osteopenia, Abnormal bone ossification, Abnormal thymus morphology	ORPHA:2463
Cantú Syndrome	Hypertrophic cardiomyopathy, Osteoporosis, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Ectopic Aldosterone-Producing Tumor	Renal cortical adenoma, Hypokalemia, Decreased circulating renin level, Ovarian neoplasm, Glucoco...	ORPHA:231632
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Cryptorchidism, Emotional lability, Ventricular septal defect, Bicuspid ao...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Cryptorchidism, Emotional lability, Ventricular septal defect, Bicuspid ao...	ORPHA:353277
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Patent foramen ovale, Cardiomegaly, ...	OMIM:620371
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Azoospermia, Delayed puberty, Cholelithiasis	ORPHA:2072
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Increased circulating cortisol level, Increased urinary potassium, Decreased circulating renin le...	ORPHA:231625
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Charge Syndrome	Lymphopenia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial septal defect, H...	OMIM:214800
Sweet Syndrome	Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Elevate...	ORPHA:3243
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets, Renal artery stenosis	OMIM:208000
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Nephrocalcinosis, Osteomalacia, Cortical nephrocalcinosis, Adrenal calci...	ORPHA:51608
X-Linked Intellectual Disability, Snyder Type	Abnormality of the Leydig cells, Cryptorchidism, Ectopic kidney, Testicular atrophy, Osteoporosis...	ORPHA:3063
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv...	ORPHA:3427
Cystic Fibrosis	Cor pulmonale, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Hypercal...	OMIM:219700
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Urinary retention, Nephroblastoma, Cardiomegaly, Abnormal cardi...	ORPHA:97297
Yellow Fever	Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating aspartate aminotransfer...	ORPHA:99829
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, T lymphocytopenia, Impaired lymphoc...	ORPHA:35078
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of the liver, S...	ORPHA:1572
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Reynolds Syndrome	Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Lymphope...	OMIM:613471
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:218030
Yunis-Varon Syndrome	Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Cryptorchidism,...	ORPHA:3472
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level	OMIM:614492
Liddle Syndrome 2	Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618126
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Elevated circulating C-reactive prote...	OMIM:617099
Hyper-Igd Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid level, Renal angiom...	OMIM:260920
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ...	ORPHA:75565
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios...	ORPHA:3384
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr...	ORPHA:1677
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Reduced bone mineral density, Abnormality of the pancreas	ORPHA:935
Wiskott-Aldrich Syndrome	Nephropathy, Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lympho...	OMIM:301000
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s...	ORPHA:95430
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Male infertility, Hypertrophic cardiomyopathy, Hypogonadism, Cr...	OMIM:163950
Absence Of The Pulmonary Artery	Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom...	ORPHA:980
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Osteopenia, Cardiomegaly, Osteolytic defects o...	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.

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MGI Allele	Allele Type	Produced
Sbf1^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Sbf1^em1(IMPC)Mbp	Intra-exon deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Sbf1 MGI:1925230

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Sbf1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data