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Gene: Nutm1 MGI:2661384

Gene Summary

Name:

NUT midline carcinoma, family member 1

Synonyms:

Nut, BC125332

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
male infertility	Nutm1^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
increased lean body mass	Nutm1^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.35×10^-08
decreased total body fat amount	Nutm1^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.50×10^-06
increased mean corpuscular hemoglobin	Nutm1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.42×10^-06
decreased circulating serum albumin level	Nutm1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.55×10^-06
increased red blood cell distribution width	Nutm1^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.28×10^-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

Nutm1^{tm1b(KOMP)Wtsi}
tail, abnormal tail morphology, kinked tail, HOM, Female, WTSI

Human diseases caused by Nutm1 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 Nutm1 (1 diseases)
Human diseases predicted to be associated with Nutm1 (320 diseases)

The table below shows human diseases associated to Nutm1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Nut Midline Carcinoma		Leukemia	ORPHA:443167

The table below shows human diseases predicted to be associated to Nutm1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 50	Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest	OMIM:619145
Partial Chromosome Y Deletion	Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert...	ORPHA:1646
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia	OMIM:619108
Isochromosomy Yp	Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in...	ORPHA:98797
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 5	Male infertility, Functional abnormality of male internal genitalia	OMIM:243060
Spermatogenic Failure 25	Decreased testicular size, Azoospermia, Cryptozoospermia	OMIM:617960
Spermatogenic Failure 32	Infertility, Azoospermia	OMIM:618115
Spermatogenic Failure 23	Infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 22	Infertility, Azoospermia	OMIM:617706
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Isochromosomy Yq	Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso...	ORPHA:98798
Spermatogenic Failure, X-Linked, 2	Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a...	ORPHA:399805
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Spermatogenic Failure 8	Azoospermia, Oligospermia, Cryptozoospermia	OMIM:613957
Hypogonadotropic Hypogonadism 24 Without Anosmia	Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism	OMIM:229070
Spermatogenic Failure 30	Azoospermia, Cryptozoospermia	OMIM:618110
Spermatogenic Failure 2	Azoospermia, Oligospermia	OMIM:108420
Spermatogenic Failure 1	Male infertility, Oligospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 29	Azoospermia	OMIM:618091
Spermatogenic Failure, Y-Linked, 2	Azoospermia	OMIM:415000
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Spermatogenic Failure 14	Azoospermia	OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia	OMIM:277180
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 46	Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel...	OMIM:619095
Spermatogenic Failure 43	Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra...	OMIM:618751
Spermatogenic Failure 45	Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ...	OMIM:619094
Spermatogenic Failure 49	Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ...	OMIM:619144
Spermatogenic Failure, X-Linked, 3	Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile...	OMIM:301059
Spermatogenic Failure 40	Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,...	OMIM:618664
Spermatogenic Failure 47	Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility	OMIM:619102
Deafness-Infertility Syndrome	Abnormal spermatogenesis, Male infertility, Reduced sperm motility	OMIM:611102
Young Syndrome	Decreased fertility, Obstructive azoospermia	ORPHA:3471
Spermatogenic Failure 7	Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia	OMIM:612997
Spermatogenic Failure 54	Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a...	OMIM:619379
Spermatogenic Failure 39	Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla...	OMIM:618643
Spermatogenic Failure 41	Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,...	ORPHA:529970
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased...	ORPHA:399808
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 42	Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil...	OMIM:618745
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Spinocerebellar Ataxia Type 32	Testicular atrophy, Male infertility, Azoospermia	ORPHA:276183
Spermatogenic Failure 18	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:617576
Spermatogenic Failure 20	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:617593
Spermatogenic Failure 19	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:617592
Spermatogenic Failure 35	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:618341
Spermatogenic Failure 33	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:618152
Spermatogenic Failure 34	Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella	OMIM:618153
Spermatogenic Failure 3	Infertility	OMIM:606766
Spermatogenic Failure 17	Infertility	OMIM:617214
Oocyte Maturation Defect 1	Infertility	OMIM:615774
Oocyte Maturation Defect 3	Infertility	OMIM:617712
Spermatogenic Failure 27	Infertility	OMIM:617965
Oocyte Maturation Defect 4	Infertility	OMIM:617743
Oocyte Maturation Defect 5	Infertility	OMIM:617996
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Persistent Mullerian Duct Syndrome, Types I And Ii	Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali...	OMIM:261550
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Spermatogenic Failure 11	Infertility, Abnormal sperm morphology	OMIM:615081
Spermatogenic Failure 10	Infertility, Abnormal sperm morphology	OMIM:614822
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
Spermatogenic Failure 51	Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro...	OMIM:619177
Spermatogenic Failure 4	Azoospermia, Recurrent spontaneous abortion	OMIM:270960
Spermatogenic Failure 38	Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno...	OMIM:618433
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase...	ORPHA:766
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia	ORPHA:48
Spermatogenic Failure 28	Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ...	OMIM:618086
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Ring Chromosome Y Syndrome	Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U...	ORPHA:261529
Hypogonadism, Male	Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis	OMIM:241100
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Infertility, Abnormal sperm morphology	OMIM:608653
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis	OMIM:614897
Iron-Refractory Iron Deficiency Anemia	Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis	OMIM:206200
Spermatogenic Failure 26	Infertility, Acephalic spermatozoa	OMIM:617961
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Isolated Follicle Stimulating Hormone Deficiency	Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater...	ORPHA:52901
Spermatogenic Failure 16	Infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617187
Spermatogenic Failure 21	Infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617644
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog...	OMIM:614837
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ...	OMIM:612885
Young Syndrome	Azoospermia	OMIM:279000
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia	OMIM:618300
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Androgen Insensitivity, Partial	Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia...	OMIM:312300
Spermatogenic Failure 24	Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor...	OMIM:617959
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Azoospermia	OMIM:300985
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo...	ORPHA:67044
Familial Male-Limited Precocious Puberty	Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty	ORPHA:3000
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno...	OMIM:224120
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro...	OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ...	OMIM:615631
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia	OMIM:615703
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope...	OMIM:300835
46,Xx Testicular Disorder Of Sex Development	Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries	ORPHA:393
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Spermatogenic Failure 15	Non-obstructive azoospermia	OMIM:616950
Analbuminemia	Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy, Hypoalbumine...	OMIM:616000
Erythroderma, Lethal Congenital	Hypoalbuminemia, Failure to thrive	OMIM:227090
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy...	ORPHA:3203
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Hyperlipidemia	OMIM:615863
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi...	ORPHA:86841
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Kennedy Disease	Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus	ORPHA:481
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality...	ORPHA:983
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th...	OMIM:616050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly	ORPHA:231393
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea	OMIM:602390
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
Immunodeficiency 27A	Thrombocytosis, Leukocytosis, Weight loss, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, ...	OMIM:209950
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hypergonadotropic hypogonadism, Azoospermia	OMIM:613724
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Azoospermia	OMIM:615234
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso...	ORPHA:98870
Adrenal Hypoplasia, Congenital	Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev...	OMIM:300200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un...	OMIM:300908
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve...	ORPHA:90797
Hypogonadism-Cataract Syndrome	Elevated circulating follicle stimulating hormone level, Infertility, Hypogonadism, Male hypogona...	OMIM:240950
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Leishmaniasis	Abnormal macrophage morphology, Weight loss, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypoal...	ORPHA:507
Refractory Celiac Disease	Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre...	ORPHA:398063
Chylomicron Retention Disease	Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemi...	OMIM:246700
46,Xy Partial Gonadal Dysgenesis	Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi...	ORPHA:251510
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia	OMIM:618805
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis	ORPHA:2183
46,Xx Sex Reversal 2	Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus...	OMIM:278850
Normosmic Congenital Hypogonadotropic Hypogonadism	Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A...	ORPHA:432
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Congenital Analbuminemia	Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Small for gestational age, Hypoalbuminemia,...	ORPHA:86816
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia	ORPHA:2578
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Hypoproteinemia, Neutropenia, Hypoalbuminemia	OMIM:600351
Congenital Disorder Of Glycosylation, Type Ih	Camptodactyly, Thrombocytopenia, Hypoalbuminemia, Failure to thrive, Anemia	OMIM:608104
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:300448
46,Xx Sex Reversal 1	Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ...	OMIM:400045
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De...	OMIM:308700
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss, Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circula...	ORPHA:103910
Eosinophilic Gastroenteritis	Leukocytosis, Weight loss, Elevated circulating C-reactive protein concentration, Hypoalbuminemia...	ORPHA:2070
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr...	OMIM:267700
Congenital Lethal Erythroderma	Hypoalbuminemia, Failure to thrive	ORPHA:1954
Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi...	ORPHA:754
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Infertility, Cryptorchidism, Ambiguous genitalia, Hypothyroidism, Abnormality of the urethra, Mal...	ORPHA:752
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Failure to thrive	OMIM:617156
47,Xyy Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se...	ORPHA:8
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Microcytic anemia	OMIM:619013
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Failure to thrive, Pyrimidin...	OMIM:258900
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Hypoalbuminemia	OMIM:618349
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Retinitis Pigmentosa And Erythrocytic Microcytosis	Elliptocytosis, Anisocytosis, Decreased serum iron, Anemia, Decreased mean corpuscular volume, Po...	OMIM:616959
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Hypothyroidism, Infertility, Female external genitalia in individual with 46,XY karyotype, Male p...	OMIM:264300
Hypogonadotropic Hypogonadism 23 Without Anosmia	Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis...	OMIM:228300
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita...	ORPHA:90791
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Maternal Uniparental Disomy Of Chromosome X	Ambiguous genitalia, Azoospermia, Primary gonadal insufficiency, Gonadal tissue inappropriate for...	ORPHA:261519
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Immunodeficiency 43	Hypoproteinemia, Hypoalbuminemia	OMIM:241600
Alpha-Thalassemia	Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin	ORPHA:846
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Azoospermia, Hypergonadotropic hypogonadism, Delayed puberty, Decreased testicular size, Decrease...	ORPHA:280679
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Ménétrier Disease	Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia, Weight loss	ORPHA:2494
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
48,Xyyy Syndrome	Male hypogonadism, Azoospermia, Primary gonadal insufficiency	ORPHA:99329
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir...	ORPHA:247598
Hemochromatosis, Type 1	Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m...	OMIM:235200
Ring Chromosome 21 Syndrome	Diabetes insipidus, Infertility, Azoospermia, Amenorrhea	ORPHA:1445
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr...	OMIM:603553
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Leukocytosis, Thrombocytopenia, Acute myeloid leukemi...	ORPHA:86839
49,Xyyyy Syndrome	Male hypogonadism, Azoospermia, Increased circulating gonadotropin level, Abnormality of the test...	ORPHA:99330
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Congenital Enterovirus Infection	Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Hypoalbuminemia, Ane...	ORPHA:292
Nephrotic Syndrome, Type 1	Hypoproteinemia, Small for gestational age, Hypoalbuminemia, Hyperlipidemia	OMIM:256300
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Sickle Cell Anemia	Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a...	ORPHA:232
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Hypogonadism, Hypoalbuminemia, Lymphopenia	OMIM:617575
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia	ORPHA:231401
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased testicular size, Azoospermia, Decreased response to gro...	OMIM:300845
Dominant Beta-Thalassemia	Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl...	ORPHA:231226
Beta-Thalassemia	Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Hypog...	ORPHA:848
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Failure to thrive	OMIM:602579
48,Xxyy Syndrome	Cryptorchidism, Infertility, Azoospermia, Hypergonadotropic hypogonadism, Type II diabetes mellit...	ORPHA:10
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Failure to thrive, Decre...	OMIM:618278
Chronic Bilirubin Encephalopathy	Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia	ORPHA:529799
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy...	ORPHA:540
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Bicornuate uterus, Hypoplasia of the uterus, Azoospermia	OMIM:601076
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Spermatogenic Failure 9	Globozoospermia	OMIM:613958
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hypoalbuminemia	OMIM:226300
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyponatremia, Neutropenia, Decreased b...	ORPHA:1667
Primary Intestinal Lymphangiectasia	Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Weight loss, Hypoalbuminemia,...	ORPHA:90362
Complete Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Blind vagina, Abnormal circulating follicle-sti...	ORPHA:99429
Citrullinemia Type Ii	Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Acute hyperammonemia, Hypertrig...	ORPHA:247585
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia	OMIM:610629
Juvenile Polyposis Syndrome	Failure to thrive, Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra...	ORPHA:90793
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hyperbilirubinemia, Thrombocytopenia, Hypoalbuminemia, Failure to thrive, Splenomegaly	OMIM:251880
Avian Influenza	Lymphopenia, Thrombocytopenia, Hypoalbuminemia, Leukopenia, Elevated circulating C-reactive prote...	ORPHA:454836
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia	OMIM:208920
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Hypergonadotropic hypogonadism, Abnormal subcutaneous fat tissue distribution, Fl...	OMIM:212065
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Cryptorchidism, Infertility, Increased circulating gonadotropin level, Aplasia of the ovary, Brea...	ORPHA:2232
Mucopolysaccharidosis-Plus Syndrome	Flexion contracture, Neutropenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Anemia, Leukop...	OMIM:617303
Amoebiasis Due To Entamoeba Histolytica	Leukocytosis, Weight loss, Hypoalbuminemia, Anemia	ORPHA:67
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion...	ORPHA:88618
Al Amyloidosis	Autonomic erectile dysfunction, Weight loss, Increased circulating NT-proBNP concentration, Hypoa...	ORPHA:85443
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased plasma carnitine, Atypical scarring of skin, Flexion contracture, Decreased body weight...	ORPHA:89842
45,X/46,Xy Mixed Gonadal Dysgenesis	Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili...	ORPHA:1772
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Flexion contracture, Hepatosplenomegaly, Hypoalbuminemia, Failure to thrive	ORPHA:367
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat...	ORPHA:64753
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent outer dynein arms, Immotile sperm	OMIM:614874
Functioning Gonadotropic Adenoma	Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a...	ORPHA:91348
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T...	ORPHA:37042
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra...	ORPHA:567548
Familial Glucocorticoid Deficiency	Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res...	ORPHA:361
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Cellulitis, Elevated circulating creatinine concentration, Increased circulating me...	ORPHA:36234
Kallmann Syndrome With Spastic Paraplegia	Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu...	OMIM:308750
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Azoospermia, Hypothyroidism, Adrenal insufficiency, Hypogonadism, Abnormality of the hypothalamus...	ORPHA:300298
Congenital Erythropoietic Porphyria	Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocytosis, Increased ...	ORPHA:79277
Abetalipoproteinemia	Hypotriglyceridemia, Reticulocytosis, Hyperbilirubinemia, Hypocholesterolemia, Decreased LDL chol...	ORPHA:14
48,Xxxy Syndrome	Cryptorchidism, Infertility, Azoospermia, Scrotal hypoplasia, Type II diabetes mellitus, Hypoplas...	ORPHA:96263
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Atrophic scars, Scarring, Hypoalbuminemia, Anemia, Failure to thrive	ORPHA:79396
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
49,Xxxxy Syndrome	Cryptorchidism, Infertility, Azoospermia, Scrotal hypoplasia, Type II diabetes mellitus, Hypoplas...	ORPHA:96264
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Male infertility, Congenital hypoparathyroidism	ORPHA:2239
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Rajab Interstitial Lung Disease With Brain Calcifications 1	Slender build, Hypocalcemia, Pancytopenia, Inguinal hernia, Hypoalbuminemia, Anemia, Failure to t...	OMIM:613658
Trichohepatoenteric Syndrome 1	Thrombocytosis, Abnormality of iron homeostasis, Hypermethioninemia, Increased mean platelet volu...	OMIM:222470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Thrombocytopenia, Hernia, Hypoalbuminemia, Anemia, Leukopenia, Hepatosplenom...	ORPHA:505248
Juvenile Polyposis Of Infancy	Subcutaneous lipoma, Cachexia, Hypoalbuminemia, Anemia, Refractory anemia	ORPHA:79076
Bloom Syndrome	Cryptorchidism, Decreased fertility in females, Azoospermia, Type II diabetes mellitus	OMIM:210900
Insulin-Resistance Syndrome Type B	Hypotriglyceridemia, Abnormal circulating lipid concentration, Weight loss, Decreased body weight...	ORPHA:2298
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Anemia, Splenomegaly	ORPHA:163596
8P11.2 Deletion Syndrome	Cryptorchidism, Azoospermia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypogonadism, Ab...	ORPHA:251066
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume	OMIM:618849
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Elevated circulating creatine kinase concentration, Small for gestational age, Hypoalbuminemia, F...	OMIM:619055
Ciliary Dyskinesia, Primary, 14	Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ...	OMIM:613807
Hepatocellular Carcinoma	Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Weight loss, Thrombocytopenia, Hy...	ORPHA:88673
Galloway-Mowat Syndrome 3	Hiatus hernia, Camptodactyly, Hypoalbuminemia, Failure to thrive	OMIM:617729
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Persistence of hemoglobin F, Decreased mean corpuscular volume, ...	ORPHA:231222
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Myotonic Dystrophy 1	Hypogonadism, Testicular atrophy, Cholelithiasis	OMIM:160900
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Camptodactyly, Hypoalbuminemia, Umbilical hernia	OMIM:235510
Classic Galactosemia	Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow...	ORPHA:79239
Ring Chromosome 22 Syndrome	Azoospermia	ORPHA:1446
Aromatase Deficiency	Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d...	ORPHA:91
Leigh Syndrome With Nephrotic Syndrome	Hypoalbuminemia	ORPHA:255249
H Syndrome	Azoospermia, Amenorrhea, Delayed puberty, Decreased testicular size, Hypogonadism, Diabetes melli...	ORPHA:168569
Galloway-Mowat Syndrome 1	Hiatus hernia, Camptodactyly, Small for gestational age, Hypoalbuminemia, Joint contracture of th...	OMIM:251300
Diarrhea 10, Protein-Losing Enteropathy Type	Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia	OMIM:618183
Lead Poisoning	Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Abnormal s...	ORPHA:330015
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Flexion contracture, HbH hemoglobin, Failure to thrive, Microcytic anemia	ORPHA:98791
Pituitary Dermoid And Epidermoid Cysts	Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Neoplasm ...	ORPHA:91351
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligospermia	OMIM:314300
Primary Biliary Cholangitis	Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration	ORPHA:186
Symptomatic Form Of Hemochromatosis Type 1	Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Testicular atrophy, Decreased seru...	ORPHA:465508
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness	Reduced beta/alpha synthesis ratio	OMIM:609057
Generalized Glucocorticoid Resistance Syndrome	Infertility, Ambiguous genitalia, Increased urinary cortisol level, Increased circulating cortiso...	ORPHA:786
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Beta-Thalassemia Major	Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl...	ORPHA:231214
Primary Sclerosing Cholangitis	Hepatosplenomegaly, Hypoalbuminemia, Weight loss, Splenomegaly	ORPHA:171
Wolfram Syndrome 1	Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism	OMIM:222300
Fanconi Anemia, Complementation Group A	Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, S...	OMIM:227650
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre...	OMIM:157640
Histiocytosis-Lymphadenopathy Plus Syndrome	Azoospermia, Hypergonadotropic hypogonadism, Pancreatic hypoplasia, Type I diabetes mellitus, Mic...	OMIM:602782
Aarskog-Scott Syndrome	Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu...	OMIM:305400
Autosomal Dominant Cerebellar Ataxia	Azoospermia	ORPHA:99
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
Bloom Syndrome	Azoospermia, Oligospermia, Diabetes mellitus, Male infertility, Premature ovarian insufficiency	ORPHA:125
Fanconi Anemia	Cryptorchidism, Abnormality of the uterus, Azoospermia, Absent testis, Abnormality of the hypotha...	ORPHA:84
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,...	OMIM:260400
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Obesity	OMIM:141750
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Blackfan-Diamond Anemia	Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo...	ORPHA:124
Ciliary Dyskinesia, Primary, 1	Male infertility, Abnormal respiratory motile cilium morphology	OMIM:244400
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Tropical Endomyocardial Fibrosis	Cachexia, Hypoalbuminemia, Eosinophilia, Splenomegaly	ORPHA:75565
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Umbilical hernia	OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Flexion contracture, Abnormal hemoglobin, Anemia	ORPHA:847
Oculocerebrorenal Syndrome Of Lowe	Cryptorchidism, Azoospermia, Abnormal calcium-phosphate regulating hormone level, Hyperaldosteron...	ORPHA:534
Primary Ciliary Dyskinesia	Female infertility, Abnormal sperm motility, Male infertility	ORPHA:244
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Azoospermia, Cholelithiasis	ORPHA:2072
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital	Hypoalbuminemia	OMIM:614748
Pmm2-Cdg	Abnormal subcutaneous fat tissue distribution, Lipodystrophy, Impaired neutrophil chemotaxis, Mul...	ORPHA:79318
Steinert Myotonic Dystrophy	Male hypogonadism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Endometrial carcinoma, Impot...	ORPHA:273
X-Linked Intellectual Disability, Snyder Type	Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias	ORPHA:3063
Cystinosis, Nephropathic	Decreased plasma carnitine, Male hypogonadism, Hypophosphatemic rickets, Hyponatremia, Failure to...	OMIM:219800
Noonan Syndrome 1	Cryptorchidism, Hypogonadism, Male infertility, Hypospadias	OMIM:163950
Cystic Fibrosis	Male infertility	OMIM:219700
Nut Midline Carcinoma	Leukemia	ORPHA:443167

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 Nutm1

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 Nutm1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Nutm1^{tm1b(KOMP)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Nutm1^{tm1b(KOMP)Wtsi}

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