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

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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 (367 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	Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size	OMIM:619145
Spermatogenic Failure 57	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Partial Chromosome Y Deletion	Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ...	ORPHA:1646
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619672
Spermatogenic Failure 73	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility	OMIM:619108
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Isochromosomy Yp	Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ...	ORPHA:98797
Spermatogenic Failure 22	Cryptozoospermia, Male infertility, Non-obstructive azoospermia	OMIM:617706
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 25	Azoospermia, Cryptozoospermia, Decreased testicular size	OMIM:617960
Spermatogenic Failure 32	Azoospermia, Infertility	OMIM:618115
Spermatogenic Failure 23	Azoospermia, Infertility	OMIM:617707
Spermatogenic Failure 12	Azoospermia, Infertility, Abnormal male germ cell morphology	OMIM:615413
Spermatogenic Failure 70	Azoospermia, Oligospermia, Male infertility, Reduced sperm motility	OMIM:619828
Isochromosomy Yq	Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins...	ORPHA:98798
Spermatogenic Failure, X-Linked, 2	Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In...	ORPHA:399805
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Spermatogenic Failure 8	Azoospermia, Oligospermia, Cryptozoospermia	OMIM:613957
Spermatogenic Failure 63	Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility	OMIM:619689
Spermatogenic Failure 20	Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 30	Azoospermia, Cryptozoospermia	OMIM:618110
Spermatogenic Failure 1	Cryptozoospermia, Oligospermia, Male infertility	OMIM:258150
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 72	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s...	OMIM:619867
Spermatogenic Failure 29	Azoospermia	OMIM:618091
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Spermatogenic Failure 14	Azoospermia	OMIM:615842
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure 46	Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell...	OMIM:619095
Spermatogenic Failure 43	Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai...	OMIM:618751
Spermatogenic Failure 45	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619094
Spermatogenic Failure 49	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619144
Spermatogenic Failure, X-Linked, 3	Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short...	OMIM:301059
Spermatogenic Failure 40	Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse...	OMIM:618664
Spermatogenic Failure 47	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella	OMIM:619102
Spermatogenic Failure 11	Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 54	Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel...	OMIM:619379
Spermatogenic Failure 65	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619712
Spermatogenic Failure 56	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619515
Spermatogenic Failure 58	Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ...	OMIM:619585
Spermatogenic Failure 39	Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili...	OMIM:618643
Spermatogenic Failure 41	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid...	ORPHA:529970
Spermatogenic Failure 5	Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa	OMIM:243060
Spermatogenic Failure 7	Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Spermatogenic Failure 42	Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma...	OMIM:618745
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Spermatogenic Failure 64	Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility	OMIM:619696
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
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
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula...	ORPHA:399808
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Immotile sperm, Abnormal sperm morphology	OMIM:608653
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Azoospermia, Male hypogonadism	OMIM:241000
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:108420
Azoospermia, Obstructive, With Nephrolithiasis	Spermatocele, Obstructive azoospermia, Male infertility	OMIM:301060
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi...	OMIM:611102
Spermatogenic Failure 18	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617576
Spermatogenic Failure 19	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617592
Spermatogenic Failure 35	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618341
Spermatogenic Failure 33	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618152
Spermatogenic Failure 34	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618153
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:616950
Spermatogenic Failure 51	Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot...	OMIM:619177
Spinocerebellar Ataxia Type 32	Azoospermia, Testicular atrophy, Male infertility	ORPHA:276183
Spermatogenic Failure 17	Infertility	OMIM:617214
Oocyte Maturation Defect 3	Infertility	OMIM:617712
Spermatogenic Failure 27	Infertility	OMIM:617965
Oocyte Maturation Defect 5	Infertility	OMIM:617996
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility	OMIM:261550
Spermatogenic Failure 10	Infertility, Abnormal sperm morphology	OMIM:614822
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Spermatogenic Failure 38	Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti...	OMIM:618433
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility, Absent vas deferens	OMIM:277180
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,...	ORPHA:766
Spermatogenic Failure 26	Infertility, Acephalic spermatozoa	OMIM:617961
Spermatogenic Failure 28	Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul...	OMIM:618086
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility	ORPHA:48
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m...	ORPHA:261529
Spermatogenic Failure 6	Globozoospermia, Male infertility, Decreased acrosin in sperm head	OMIM:102530
Hypogonadism, Male	Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis	OMIM:241100
Spermatogenic Failure 16	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul...	OMIM:229070
Iron-Refractory Iron Deficiency Anemia	Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis	OMIM:206200
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis	OMIM:603529
Isolated Follicle Stimulating Hormone Deficiency	Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi...	ORPHA:52901
Premature Ovarian Failure 10	Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo...	OMIM:612885
Young Syndrome	Azoospermia	OMIM:279000
Spermatogenic Failure 24	Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta...	OMIM:617959
Spermatogenic Failure, X-Linked, 4	Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein...	OMIM:301077
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr...	OMIM:614837
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Androgen Insensitivity, Partial	Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona...	OMIM:312300
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens	OMIM:300985
Familial Male-Limited Precocious Puberty	Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism	ORPHA:3000
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen...	OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto...	OMIM:615631
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl...	OMIM:616860
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Morbid Obesity And Spermatogenic Failure	Infertility, Oligospermia, Azoospermia, Type II diabetes mellitus	OMIM:615703
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre...	OMIM:603902
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ...	OMIM:228300
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Cholestasis, Progressive Familial Intrahepatic, 10	Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal...	OMIM:619868
46,Xx Testicular Disorder Of Sex Development	Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size	ORPHA:393
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Small for gestational age, Ani...	OMIM:224120
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst...	OMIM:616000
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ...	ORPHA:86841
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin...	OMIM:614897
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Kennedy Disease	Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility	ORPHA:481
Diarrhea 7, Protein-Losing Enteropathy Type	Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia	OMIM:615863
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma...	ORPHA:983
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ...	OMIM:616050
Hemochromatosis, Type 2A	Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia	OMIM:602390
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Hypoalbuminemia	ORPHA:88643
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod...	OMIM:300908
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se...	ORPHA:98870
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Splenomegaly	ORPHA:46532
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hypergonadotropic hypogonadism, Azoospermia	OMIM:613724
Anemia, Hypochromic Microcytic, With Iron Overload 2	Azoospermia, Hypogonadism	OMIM:615234
Immunodeficiency 27A	Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Hypoa...	OMIM:209950
Hypogonadism-Cataract Syndrome	Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona...	OMIM:240950
Adrenal Hypoplasia, Congenital	Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir...	OMIM:300200
Partial Androgen Insensitivity Syndrome	Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito...	ORPHA:90797
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Leishmaniasis	Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Hypoalbuminemia, Pancytope...	ORPHA:507
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ...	ORPHA:398063
Chylomicron Retention Disease	Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceride...	OMIM:246700
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis	ORPHA:2183
46,Xy Partial Gonadal Dysgenesis	Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h...	ORPHA:251510
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Failure to thrive in infancy, Hypoalbuminemia	OMIM:618805
Rh Deficiency Syndrome	Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem...	ORPHA:71275
Normosmic Congenital Hypogonadotropic Hypogonadism	Increased female libido, Hypoplasia of the uterus, Impotence, Cryptorchidism, Hypoplasia of the o...	ORPHA:432
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
46,Xx Sex Reversal 2	Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B...	OMIM:278850
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:300448
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona...	OMIM:308700
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus	ORPHA:2578
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Hypoalbuminemia, Hypoproteinemia, Neutropenia	OMIM:600351
46,Xx Sex Reversal 1	Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo...	OMIM:400045
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Failure to thrive, Hemophagocytosis, Splenomegaly, ...	OMIM:267700
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Abnormal circula...	ORPHA:103910
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Weight loss, H...	ORPHA:2070
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos...	OMIM:308240
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Failure to thrive, Hypoalbuminemia	OMIM:617156
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Orotic Aciduria	Hypochromia, Failure to thrive, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocy...	OMIM:258900
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt...	OMIM:616959
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Infertility, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Abnormality of the urethr...	ORPHA:752
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Hypoalbuminemia	OMIM:618349
Cyanosis, Transient Neonatal	Methemoglobinemia, Reticulocytosis, Anemia	OMIM:613977
Androgen Insensitivity Syndrome	Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul...	ORPHA:754
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	ORPHA:158061
47,Xyy Syndrome	Increased circulating gonadotropin level, Increased serum testosterone level, Micropenis, Hypospa...	ORPHA:8
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia	OMIM:619013
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Congenital Analbuminemia	Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop...	ORPHA:86816
Congenital Disorder Of Glycosylation, Type Ih	Failure to thrive, Camptodactyly, Elevated circulating creatinine concentration, Hypoalbuminemia,...	OMIM:608104
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ...	ORPHA:90791
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Maternal Uniparental Disomy Of Chromosome X	Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo...	ORPHA:261519
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis, Failure to thrive, Flexion contracture, Camptodactyly	OMIM:604273
Prolactin Deficiency, Isolated	Infertility, Irregular menstruation, Reduced circulating prolactin concentration	OMIM:264110
Alpha-Thalassemia	Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism	ORPHA:846
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ...	ORPHA:280679
Ciliary Dyskinesia, Primary, 40	Infertility, Absent outer dynein arms, Azoospermia	OMIM:618300
Ménétrier Disease	Weight loss, Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia	ORPHA:2494
48,Xyyy Syndrome	Azoospermia, Male hypogonadism, Primary gonadal insufficiency	ORPHA:99329
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Failure to thrive, Hemophagocytosis, Splenomegaly, ...	OMIM:603553
Immunodeficiency 43	Hypoalbuminemia, Hypoproteinemia	OMIM:241600
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope...	OMIM:610629
Hemochromatosis, Type 1	Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo...	OMIM:235200
49,Xyyyy Syndrome	Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo...	ORPHA:99330
Ring Chromosome 21 Syndrome	Amenorrhea, Infertility, Azoospermia, Diabetes insipidus	ORPHA:1445
Refractory Anemia With Excess Blasts	Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula...	ORPHA:86839
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Alg6-Cdg	Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia	ORPHA:79320
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c...	ORPHA:247598
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Galloway-Mowat Syndrome 6	Decreased body weight, Hypoalbuminemia	OMIM:618347
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Hepatoportal Sclerosis	Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl...	ORPHA:64743
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Congenital Enterovirus Infection	Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro...	ORPHA:292
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Primary Intestinal Lymphangiectasia	Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m...	ORPHA:90362
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia, Hypogonadism	OMIM:617575
Beta-Thalassemia	Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadism, Abnormality of iron homeostasis...	ORPHA:848
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers...	ORPHA:231226
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Azoospermia, Decreased response to growth hormone stimulation tes...	OMIM:300845
48,Xxyy Syndrome	Infertility, Type II diabetes mellitus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Decr...	ORPHA:10
Nephrotic Syndrome, Type 1	Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age	OMIM:256300
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Thrombocytosis, Hypoalbuminemia, Hypoproteinemia, Iron deficiency anemia	OMIM:226300
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi...	ORPHA:540
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Wolcott-Rallison Syndrome	Decreased body weight, Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia,...	ORPHA:1667
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia	ORPHA:529799
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia	OMIM:251880
Ciliary Dyskinesia, Primary, 34	Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti...	OMIM:617091
Citrullinemia Type Ii	Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Delayed menarche, Decreased HDL cholestero...	ORPHA:247585
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia	OMIM:208920
Complete Androgen Insensitivity Syndrome	Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal...	ORPHA:99429
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Failure to thrive, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circula...	OMIM:242150
Juvenile Polyposis Syndrome	Failure to thrive, Anemia, Hypokalemia, Hypoalbuminemia	OMIM:174900
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re...	ORPHA:90793
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Increased circulating gonadotropin level, Infertility, Impotence, Decreased serum testosterone co...	ORPHA:2232
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Mpi-Cdg	Failure to thrive, Hypoalbuminemia	ORPHA:79319
S-Adenosylhomocysteine Hydrolase Deficiency	Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi...	ORPHA:88618
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased mean corpuscular volume, Failure to thrive, Leukocytosis, Anisocytosis, Hepatosplenomeg...	OMIM:618278
Amoebiasis Due To Entamoeba Histolytica	Anemia, Weight loss, Hypoalbuminemia, Leukocytosis	ORPHA:67
Kallmann Syndrome With Spastic Paraplegia	Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog...	OMIM:308750
Mucopolysaccharidosis-Plus Syndrome	Flexion contracture, Splenomegaly, Leukopenia, Hypoalbuminemia, Neutropenia, Anemia, Thrombocytop...	OMIM:617303
Al Amyloidosis	Autonomic erectile dysfunction, Increased circulating NT-proBNP concentration, Weight loss, Hypoa...	ORPHA:85443
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased body weight, Flexion contracture, Abnormal circulating selenium conc...	ORPHA:89842
Avian Influenza	Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat...	ORPHA:454836
Xfe Progeroid Syndrome	Corneal scarring, Failure to thrive, Cachexia, Enamel hypoplasia, Absence of subcutaneous fat, Hy...	OMIM:610965
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Failure to thrive, Hepatosplenomegaly, Hypoalbuminemia, Flexion contracture	ORPHA:367
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila...	ORPHA:1772
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ...	ORPHA:64753
Congenital Disorder Of Glycosylation, Type Ia	Failure to thrive, Flexion contracture, Hypergonadotropic hypogonadism, Thrombocytosis, Hypochole...	OMIM:212065
Aicardi-Goutieres Syndrome 9	Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Weight loss, Hypoalbuminemia, Anemia	OMIM:619487
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent outer dynein arms, Immotile sperm	OMIM:614874
Familial Glucocorticoid Deficiency	Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Leydig cell n...	ORPHA:361
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,...	ORPHA:37042
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Functioning Gonadotropic Adenoma	Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge...	ORPHA:91348
48,Xxxy Syndrome	Infertility, Type II diabetes mellitus, Hypoplasia of penis, Decreased testicular size, Hypogonad...	ORPHA:96263
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Bacterial Toxic-Shock Syndrome	Increased circulating myelocyte count, Hypocalcemia, Cellulitis, Elevated circulating creatine ki...	ORPHA:36234
Congenital Erythropoietic Porphyria	Splenomegaly, Anisocytosis, Leukopenia, Scarring alopecia of scalp, Increased erythrocyte protopo...	ORPHA:79277
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadi...	ORPHA:300298
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hypoalbuminemia	OMIM:602579
49,Xxxxy Syndrome	Infertility, Type II diabetes mellitus, Hypoplasia of penis, Decreased testicular size, Hypogonad...	ORPHA:96264
Abetalipoproteinemia	Failure to thrive, Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Reticul...	ORPHA:14
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Failure to thrive, Enamel hypoplasia, Hypoalbuminemia, Atrophic scars, Scarring, Anemia	ORPHA:79396
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis	ORPHA:2239
Alg12-Cdg	Failure to thrive, Abnormal adipose tissue morphology, B lymphocytopenia, Camptodactyly, Hypochol...	ORPHA:79324
Liver Failure, Infantile, Transient	Hyperbilirubinemia, Hypoalbuminemia	OMIM:613070
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Wilson Disease	Increased circulating copper concentration, Hyperbilirubinemia, Splenomegaly, Chondrocalcinosis, ...	OMIM:277900
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia	OMIM:618849
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Juvenile Polyposis Of Infancy	Cachexia, Subcutaneous lipoma, Hypoalbuminemia, Refractory anemia, Anemia	ORPHA:79076
Hepatocellular Carcinoma	Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Weight loss, Hypoalbuminemia, Hypo...	ORPHA:88673
Insulin-Resistance Syndrome Type B	Decreased body weight, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid ...	ORPHA:2298
Ciliary Dyskinesia, Primary, 9	Male infertility, Absent outer dynein arms	OMIM:612444
Trichohepatoenteric Syndrome 1	Failure to thrive, Small for gestational age, Splenomegaly, Increased mean platelet volume, Throm...	OMIM:222470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Hepatosplenomegaly, Hernia, Hypoalbuminemia, Anemia, Thrombocyto...	ORPHA:505248
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Ciliary Dyskinesia, Primary, 14	Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ...	OMIM:613807
8P11.2 Deletion Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axi...	ORPHA:251066
Classic Galactosemia	Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in...	ORPHA:79239
Galloway-Mowat Syndrome 3	Failure to thrive, Hiatus hernia, Hypoalbuminemia, Camptodactyly	OMIM:617729
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy, Hypogonadism	OMIM:160900
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Failure to thrive, Elevated circulating creatine kinase concentration, Hypoalbuminemia, Small for...	OMIM:619055
Ring Chromosome 22 Syndrome	Azoospermia	ORPHA:1446
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Beta-Thalassemia Intermedia	Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E...	ORPHA:231222
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Failure to thrive, Hypoalbuminemia	OMIM:618329
Leigh Syndrome With Nephrotic Syndrome	Hypoalbuminemia	ORPHA:255249
Lead Poisoning	Infertility, Decreased male libido, Increased LDL cholesterol concentration, Reduced sperm motili...	ORPHA:330015
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Joint contracture of the hand, Umbilical hernia, Camptodactyly	OMIM:235510
Diarrhea 10, Protein-Losing Enteropathy Type	Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia	OMIM:618183
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
H Syndrome	Amenorrhea, Micropenis, Decreased testicular size, Hypogonadism, Delayed puberty, Azoospermia, Di...	ORPHA:168569
Aromatase Deficiency	Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Hypergonadotropic hyp...	ORPHA:91
Galloway-Mowat Syndrome 1	Hiatus hernia, Joint contracture of the hand, Small for gestational age, Camptodactyly, Hypoalbum...	OMIM:251300
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Marburg Hemorrhagic Fever	Hypokalemia, Lymphopenia, Orchitis, Hyperammonemia, Leukopenia, Elevated circulating creatine kin...	ORPHA:99826
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Failure to thrive, Microcytic anemia, Flexion contracture	ORPHA:98791
Rajab Interstitial Lung Disease With Brain Calcifications 1	Slender build, Failure to thrive, Hypocalcemia, Inguinal hernia, Small for gestational age, Uncon...	OMIM:613658
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Lymphopenia, Decreased prealbumin level, Hypochole...	ORPHA:90363
Symptomatic Form Of Hemochromatosis Type 1	Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona...	ORPHA:465508
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration	ORPHA:186
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Overweight, Hiatus hernia, Umbilical hernia	OMIM:619769
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ...	ORPHA:231214
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Generalized Glucocorticoid Resistance Syndrome	Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c...	ORPHA:786
Bloom Syndrome	Azoospermia, Cryptorchidism, Type II diabetes mellitus, Decreased fertility in females	OMIM:210900
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre...	OMIM:157640
Aarskog-Scott Syndrome	Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat...	OMIM:305400
Wolfram Syndrome 1	Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus	OMIM:222300
Primary Sclerosing Cholangitis	Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Splenomegaly	ORPHA:171
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Micropenis, Hypergonadotropic hypogonadism...	OMIM:602782
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein AI concentration, Hepatosplenomegaly, Oligospermia, Decrease...	ORPHA:85450
Fanconi Anemia, Complementation Group A	Small for gestational age, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, Male i...	OMIM:227650
Autosomal Dominant Cerebellar Ataxia	Azoospermia	ORPHA:99
Bloom Syndrome	Oligospermia, Male infertility, Diabetes mellitus, Azoospermia, Premature ovarian insufficiency	ORPHA:125
Fanconi Anemia	Absent testis, Bicornuate uterus, Decreased fertility in males, Abnormal preputium morphology, Hy...	ORPHA:84
Shwachman-Diamond Syndrome 1	Failure to thrive, Small for gestational age, Persistence of hemoglobin F, Pancytopenia, Neutrope...	OMIM:260400
Smith-Lemli-Opitz Syndrome	Failure to thrive, Elevated 7-dehydrocholesterol, Splenomegaly, Hypocholesterolemia, Hypoalbuminemia	OMIM:270400
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	HbH hemoglobin, Obesity, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:141750
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Weight loss, Leukemia	ORPHA:99867
Blackfan-Diamond Anemia	Increased mean corpuscular volume, Neutropenia, Small for gestational age, Persistence of hemoglo...	ORPHA:124
Biliary, Renal, Neurologic, And Skeletal Syndrome	Increased circulating ferritin concentration, Failure to thrive, Hyperbilirubinemia, Inguinal her...	OMIM:619534
Ciliary Dyskinesia, Primary, 1	Male infertility, Absent outer dynein arms	OMIM:244400
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Primary Ciliary Dyskinesia	Female infertility, Abnormal sperm motility, Male infertility	ORPHA:244
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Flexion contracture, Abnormal hemoglobin	ORPHA:847
Oculocerebrorenal Syndrome Of Lowe	Abnormal calcium-phosphate regulating hormone level, Hyperaldosteronism, Delayed puberty, Azoospe...	ORPHA:534
Tropical Endomyocardial Fibrosis	Cachexia, Eosinophilia, Hypoalbuminemia, Splenomegaly	ORPHA:75565
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Umbilical hernia	OMIM:301040
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cholelithiasis, Azoospermia, Delayed puberty	ORPHA:2072
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Pmm2-Cdg	Multiple joint contractures, Failure to thrive, Hypogonadotropic hypogonadism, Impaired neutrophi...	ORPHA:79318
Steinert Myotonic Dystrophy	Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D...	ORPHA:273
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism	ORPHA:3063
Cystinosis, Nephropathic	Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Splenomegaly, Decreased ...	OMIM:219800
Noonan Syndrome 1	Hypospadias, Cryptorchidism, Male infertility, Hypogonadism	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)

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