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Gene: Zfp644 MGI:1277212

Gene Summary

Name:

zinc finger protein 644

Synonyms:

BM-005, Zep-2, D5Ertd689e, 1110068L01Rik

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
abnormal uterus morphology	Zfp644^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating potassium level	Zfp644^{em1(IMPC)Ccpcz}	HOM	Early adult	1.82×10^-07
decreased body weight	Zfp644^{em1(IMPC)Ccpcz}	HOM	Early adult	6.36×10^-05
abnormal testis morphology	Zfp644^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased mean corpuscular hemoglobin	Zfp644^{em1(IMPC)Ccpcz}	HOM	Early adult	9.37×10^-05
abnormal skin morphology	Zfp644^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged uterus	Zfp644^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Zfp644^{em1(IMPC)Ccpcz}	HOM	Early adult	2.26×10^-10
decreased mean corpuscular volume	Zfp644^{em1(IMPC)Ccpcz}	HOM	Early adult	1.36×10^-06
increased blood urea nitrogen level	Zfp644^{em1(IMPC)Ccpcz}	HOM	Early adult	2.33×10^-06

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Human diseases caused by Zfp644 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 Zfp644 (1 diseases)
Human diseases predicted to be associated with Zfp644 (411 diseases)

The table below shows human diseases associated to Zfp644 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Myopia 21, Autosomal Dominant			OMIM:614167

The table below shows human diseases predicted to be associated to Zfp644 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa...	OMIM:620085
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Elevated circulating creatinine concentration, Pancytopenia, Increased blood u...	OMIM:617872
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia, Failure to thrive	OMIM:143860
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas...	OMIM:613845
Endometriosis, Susceptibility To, 1	Endometriosis	OMIM:131200
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A...	OMIM:613673
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hemolytic anemia	OMIM:609153
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:300946
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Failure to thrive, Cryptorchidism, Hyponatremia, Hyperkalemia	OMIM:614736
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Clitoral hypertrophy, Failure to thrive, Abnormal labia majora morphology, Congenital adrenal hyp...	ORPHA:90791
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
46,Xy Sex Reversal 4	Gonadal dysgenesis, Elevated circulating creatinine concentration, Hypoplastic labia majora, Incr...	OMIM:154230
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb...	ORPHA:231111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	OMIM:203400
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	OMIM:610600
Osteopetrosis, Autosomal Recessive 9	Anemia, Elevated circulating creatinine concentration, Hyperparathyroidism, Hyperkalemia	OMIM:620366
Mirage Syndrome	Microphallus, Decreased testicular size, Lymphopenia, Leukopenia, Cryptorchidism, Decreased body ...	OMIM:617053
Amed Syndrome, Digenic	Failure to thrive, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypoplasia of th...	OMIM:619151
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron...	ORPHA:98870
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Microphallus, Bifid scrotum, Absent scrotum, Cryptorchidism, Adrenal hyperplasia, Hyponatremia, M...	OMIM:201810
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Beta-Thalassemia	Cholelithiasis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadi...	ORPHA:848
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	OMIM:177735
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	ORPHA:556037
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal ...	ORPHA:90790
Renal Hypoplasia, Bilateral	Failure to thrive, Cryptorchidism, Hyponatremia, Anemia, Hyperkalemia, Small for gestational age	ORPHA:97362
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Failure to thrive in infancy, Hyponatremia, Weight loss, Hyperkalemia, Increased ...	ORPHA:171876
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise	ORPHA:57
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	ORPHA:556030
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Rudiger Syndrome	Micropenis, Bicornuate uterus, Ovarian cyst	OMIM:268650
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I...	ORPHA:755
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon...	OMIM:194072
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated...	OMIM:273250
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocytic anemia, Elevated circulatin...	OMIM:620501
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Failure to thrive, Azoospermia, Cryptorchidism, Hypona...	ORPHA:361
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Failure to thrive	OMIM:264350
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Hypercalcemia, Increased blood urea nitrogen, Episodic hemolytic anemia	ORPHA:251004
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Microphthalmia, Syndromic 12	Bicornuate uterus, Cryptorchidism	OMIM:615524
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Methemoglobinemia And Ambiguous Genitalia	Elevated circulating luteinizing hormone level, Bifid scrotum, Methemoglobinemia, Male pseudoherm...	OMIM:250790
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular v...	OMIM:611590
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Abnormal uterine cervix morphology, Hydrocolpos, Partial vaginal septum, Uterus didelphys	ORPHA:3411
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Varicocele, Elevated circulating creatinine concentration, Weight loss, Increa...	ORPHA:49041
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis...	OMIM:614837
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Cockayne Syndrome Type 1	Male hypogonadism, Failure to thrive, Cryptorchidism, Increased blood urea nitrogen, Anemia	ORPHA:90321
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male hypogonadism, Precocious puberty in females, Elevated circulating luteinizing hormone level,...	ORPHA:90793
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Addison Disease	Normocytic anemia, Failure to thrive, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hy...	ORPHA:85138
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Satoyoshi Syndrome	Hypoplasia of the uterus, Mildly elevated creatine kinase	OMIM:600705
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:618117
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Hyperkalemic Periodic Paralysis	Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration	ORPHA:682
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Orthostatic Hypotension 1	Elevated circulating dihydroxyphenylacetic acid concentration, Reduced circulating prolactin conc...	OMIM:223360
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:617690
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Macrocytic anemia, Hypomethio...	ORPHA:2169
Caudal Duplication	Abnormal penis morphology, Uterus didelphys, Cryptorchidism	ORPHA:1756
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	ORPHA:427
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Hyperuricemia, Hyponatremia, Weight loss, Hyperkalemia, Hyp...	ORPHA:95409
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Apparent Mineralocorticoid Excess	Hypokalemia, Small for gestational age, Failure to thrive, Decreased circulating renin level	OMIM:218030
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Failure to thrive, Decreased tes...	ORPHA:90794
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Perrault Syndrome 4	Obesity, Hypoplasia of the ovary, Increased circulating gonadotropin level, Hypoplasia of the ute...	OMIM:615300
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Failure to thrive, Microcytic anemia, Cryptorchidism, Hypospadias	ORPHA:98791
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Dopamine Beta-Hydroxylase Deficiency	Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosp...	ORPHA:231222
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr...	ORPHA:90797
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Anemia, Reduced circulating cortisol-binding globulin concentration	OMIM:611489
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619665
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hemolytic anemia	OMIM:608885
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619203
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ...	OMIM:277410
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypoplasia of penis, Uterus didelphys	ORPHA:2491
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Eunuchoid...	ORPHA:432
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Birk-Landau-Perez Syndrome	Failure to thrive in infancy, Increased circulating creatine kinase MB isoform, Hyperkalemia	OMIM:617595
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin...	ORPHA:94093
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu...	ORPHA:447
Ovarian Fibrothecoma	Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification, Ovarian fibroma	ORPHA:314478
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
Renal Hypodysplasia/Aplasia 3	Abnormality of the uterus	OMIM:617805
Fryns Microphthalmia Syndrome	Unicornuate uterus	OMIM:600776
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ...	OMIM:617052
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Hypoplasia of the uterus, Obesity, Abnormal vagina morphology	ORPHA:247768
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo...	OMIM:278850
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss, Goiter	OMIM:188580
Lysosomal Acid Lipase Deficiency	Failure to thrive, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Hyponatremia, Cache...	ORPHA:275761
Donnai-Barrow Syndrome	Bicornuate uterus, Abnormality of the uterus	ORPHA:2143
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Satoyoshi Syndrome	Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u...	ORPHA:3130
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Omodysplasia 2	Uterus didelphys, Cryptorchidism, Labial hypoplasia, Micropenis, Hypospadias, Clitoral hypoplasia	OMIM:164745
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anemia	OMIM:175500
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Failure to thrive, Decreased testicular size, Cry...	ORPHA:90796
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Precocious puberty, Clitoral hypertrophy, Long penis, Ambiguous genitalia, female, Polycystic ova...	ORPHA:90795
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypocalcemia, Hypoparathyroidism, Aplas...	ORPHA:2237
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss, Goiter	OMIM:613239
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Hypomagnesemia, Obesity, Weight loss, Transient hypophosphatemia, Hyperkale...	ORPHA:79102
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Shwachman-Diamond Syndrome	Normocytic anemia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume, Failure to...	ORPHA:811
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv...	ORPHA:231226
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
Matthew-Wood Syndrome	Annular pancreas, Failure to thrive, Abnormality of the uterus, Cryptorchidism, Abnormal spleen m...	ORPHA:2470
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv...	ORPHA:231214
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Failure to thrive	OMIM:602722
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Prune Belly Syndrome	Failure to thrive, Abnormality of the uterus, Decreased testicular size, Cryptorchidism, Urogenit...	ORPHA:2970
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormality of the uterus, Pancreatic lymphangiectasis, Hepatosplenomegaly, Cryptorchidism, Hypoc...	ORPHA:1655
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Ovarian neoplasm, Decreased circulating renin level	ORPHA:231632
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Mullerian Aplasia And Hyperandrogenism	Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Failure to thrive, Hypokalemia	OMIM:174900
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria...	OMIM:201750
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Denys-Drash Syndrome	Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat...	OMIM:194080
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:214700
Renal Hypodysplasia/Aplasia 1	Vaginal atresia, Bicornuate uterus	OMIM:191830
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Small for gestational age	OMIM:616943
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Liddle Syndrome	Hypokalemia	ORPHA:526
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Lead Poisoning	Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration, Abnormal T cell morphol...	ORPHA:330015
Gillessen-Kaesbach-Nishimura Syndrome	Bicornuate uterus	OMIM:263210
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Decreased body we...	ORPHA:340
Estrogen Resistance	Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Elevated circulating creatinine concentration, Hyperuricemia, Pancreatic a...	OMIM:137920
Osteootohepatoenteric Syndrome	Failure to thrive, Increased serum bile acid concentration, Hypokalemia, Weight loss, Anemia	OMIM:619377
Teebi Hypertelorism Syndrome 1	Bicornuate uterus, Hydrocele testis, Shawl scrotum	OMIM:145420
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pure red cell aplasia, P...	ORPHA:99867
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Cryptorchidism, Thrombocytopenia	ORPHA:261250
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Ehlers-Danlos Syndrome, Classic-Like, 1	Ambiguous genitalia, female, Bicornuate uterus	OMIM:606408
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Woodhouse-Sakati Syndrome	Decreased testicular size, Hyperlipidemia, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia ...	OMIM:241080
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Aplasia/Hypoplasia of the pancreas, Hyperuricemia, Papillary cystadenoma of ...	ORPHA:93111
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Hypoparathyroidism	OMIM:146255
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus	OMIM:617914
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Meckel Syndrome 12	Vaginal atresia, Hypoplasia of the uterus	OMIM:616258
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,...	OMIM:119500
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Breast hypoplasia, Hypoplasia of the uterus, Increased circulating g...	ORPHA:785
Hand-Foot-Genital Syndrome	Uterus didelphys, Bifid scrotum, Chordee, Micropenis, Hypospadias, Longitudinal vaginal septum	OMIM:140000
Duplication Of Urethra	Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde...	ORPHA:237
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Hand-Foot-Genital Syndrome	Bicornuate uterus, Hypospadias, Abnormality of the uterus	ORPHA:2438
Woodhouse-Sakati Syndrome	Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimulation test, S...	ORPHA:3464
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Infection-Related Hemolytic Uremic Syndrome	Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolytic anemia	ORPHA:544482
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the male genitalia, Cryptorchidism, Abnormal hemoglobin, Male pseudohermaphroditis...	ORPHA:847
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level	OMIM:613677
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic...	OMIM:618419
Apparent Mineralocorticoid Excess	Hypokalemia, Failure to thrive, Decreased circulating renin level	ORPHA:320
Cystinosis	Hypokalemia, Hypophosphatemia, Failure to thrive	ORPHA:213
Colchicine Poisoning	Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal...	ORPHA:31824
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Fanconi-Bickel Syndrome	Hypouricemia, Failure to thrive, Hyperbilirubinemia, Increased serum bile acid concentration, Hyp...	OMIM:227810
Microphthalmia, Syndromic 9	Multilobulated spleen, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s...	OMIM:601186
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Septate vagina, Labial hypoplasia, Rectovaginal fistula, Small for gestatio...	OMIM:300707
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop...	ORPHA:466650
Fanconi Anemia	Abnormality of the uterus, Hypogonadism, Azoospermia, Leukopenia, Cryptorchidism, Weight loss, Th...	ORPHA:84
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Shwachman-Diamond Syndrome 1	Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia...	OMIM:260400
Dyskeratosis Congenita, Autosomal Dominant 1	Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An...	OMIM:127550
Familial Hyperaldosteronism Type Ii	Hypokalemia, Adrenal hyperplasia	ORPHA:404
Familial Hyperaldosteronism Type I	Hypokalemia, Adrenal hyperplasia	ORPHA:403
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina	ORPHA:3109
Goodpasture Syndrome	Anemia, Weight loss, Increased blood urea nitrogen	OMIM:233450
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Acro-Renal-Mandibular Syndrome	Bicornuate uterus, Uterus didelphys	ORPHA:958
46,Xx Gonadal Dysgenesis	Increased circulating gonadotropin level, Streak ovary, Aplasia/hypoplasia of the uterus, Gonadal...	ORPHA:243
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Pseudotrisomy 13 Syndrome	Micropenis, Bicornuate uterus, Cryptorchidism	OMIM:264480
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level	ORPHA:231580
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:613090
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus	OMIM:615866
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Cryptorchidism, Shawl scrotum, Hypochromic microcytic anemia, Micropenis, Reduced...	OMIM:301040
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee...	OMIM:618820
Vipoma	Pituitary adenoma, Increased circulating prolactin concentration, Hypokalemia, Weight loss, Eleva...	ORPHA:97282
Donnai-Barrow Syndrome	Bicornuate uterus	OMIM:222448
Smith-Lemli-Opitz Syndrome	Precocious puberty, Small scrotum, Hypoalbuminemia, Failure to thrive, Bifid scrotum, Hypocholest...	OMIM:270400
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Overweight, Persistence of hemoglobin F	OMIM:619769
Fryns Syndrome	Bicornuate uterus, Hypospadias, Cryptorchidism	ORPHA:2059
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Hypospadias, Failure to thrive, Splenopancreatic fusion, Hypoplastic labia majora,...	OMIM:269150
Juvenile Nephropathic Cystinosis	Hypouricemia, Failure to thrive, Elevated circulating creatinine concentration, Hypocalcemic teta...	ORPHA:411634
Meacham Syndrome	Accessory spleen, Septate vagina, Male pseudohermaphroditism, Bicornuate uterus, Blind vagina	OMIM:608978
Pearson Syndrome	Hypomagnesemia, Decreased response to growth hormone stimulation test, Pancytopenia, Hypocalcemia...	ORPHA:699
Leprechaunism	Clitoral hypertrophy, Long penis, Failure to thrive, Overgrowth of external genitalia, Labial hyp...	ORPHA:508
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Thrombocytopenia	ORPHA:3320
Familial Hyperaldosteronism Type Iii	Hypokalemia, Adrenal hyperplasia	ORPHA:251274
Microsporidiosis	Abnormality of the parathyroid gland, Abnormality of the spleen, Decreased proportion of CD4-posi...	ORPHA:2552
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational ag...	OMIM:601678
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple	ORPHA:1521
Adrenocortical Carcinoma	Hypokalemia, Increased body weight, Weight loss, Adrenocorticotropic hormone deficiency	ORPHA:1501
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Bartter Syndrome Type 4	Small for gestational age, Failure to thrive, Hypomagnesemia, Hypokalemia, Hyponatremia, Severe f...	ORPHA:89938
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Female pseudohermaphroditism, Adrenal hyperplasia, Hypokalemia, Ambiguous gen...	ORPHA:786
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Obesity, Pituitary adenoma, Abdominal obesity	OMIM:219090
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Pagod Syndrome	Abnormality of the uterus, Abnormal morphology of female internal genitalia, Abnormality of the s...	ORPHA:991
Cystinosis, Nephropathic	Male hypogonadism, Decreased circulating carnitine concentration, Failure to thrive, Hypomagnesem...	OMIM:219800
Opitz Gbbb Syndrome	Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate uterus, Hypospadias	ORPHA:2745
Rabson-Mendenhall Syndrome	Precocious puberty, Clitoral hypertrophy, Long penis, Hypokalemia, Enlarged ovaries, Increased pi...	ORPHA:769
Ulnar-Mammary Syndrome	Abnormality of the uterus, Breast aplasia, Obesity, Cryptorchidism, Hypoplastic nipples, Hypoplas...	ORPHA:3138
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Mosaic Trisomy 9	Hypoplastic female external genitalia, Abnormality of the uterus, Cryptorchidism, Abnormal fallop...	ORPHA:99776
Fryns Syndrome	Ectopic pancreatic tissue, Bifid scrotum, Polysplenia, Large for gestational age, Cryptorchidism,...	OMIM:229850
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias	OMIM:309801
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
Beaulieu-Boycott-Innes Syndrome	Endometriosis	OMIM:613680
Immunodeficiency 87 And Autoimmunity	Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po...	OMIM:619573
Bartsocas-Papas Syndrome 1	Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Ambiguous genitali...	OMIM:263650
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Failure to thrive, Hypomagnesemia	OMIM:263800
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia	ORPHA:140952
Acrorenal-Mandibular Syndrome	Unicornuate uterus, Bicornuate uterus, Uterus didelphys, Absent nipple	OMIM:200980
Fanconi Anemia, Complementation Group L	Micropenis, Aplasia of the uterus, Anemia	OMIM:614083
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Exstrophy-Epispadias Complex	Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A...	ORPHA:322
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Nelson Syndrome	Pituitary carcinoma, Increased circulating prolactin concentration, Hypokalemia, Adrenocorticotro...	ORPHA:199244
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Adrenal hyperplasia	ORPHA:369929
Ehlers-Danlos Syndrome, Vascular Type	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Anemia, Cervical insufficiency	OMIM:130050
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Hypoplasia of the uterus	OMIM:110100
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Breast hypo...	ORPHA:2232
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Acrofacial Dysostosis, Rodríguez Type	Abnormality of the uterus	ORPHA:1788
Currarino Syndrome	Septate vagina, Rectovaginal fistula, Bicornuate uterus	OMIM:176450
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Leukocytosis, Hypoplasia of the ovary, Abdominal obesity, Micropenis, ...	OMIM:619321
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Axillary apocrine gland hypoplasia...	OMIM:181450
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level	OMIM:615474
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Micropenis, Hypospadias, Endometriosis	ORPHA:363444
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi...	ORPHA:3337
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micropenis, Septate vagina, Absent gallbladder, Uterus didelphys	OMIM:617925
Meckel Syndrome 14	Aplasia of the uterus, Ambiguous genitalia	OMIM:619879
Bartter Syndrome, Type 3	Hypokalemia, Hyperchloriduria, Increased circulating renin level	OMIM:607364
Waardenburg Syndrome	Abnormal vagina morphology, Abnormality of the uterus	ORPHA:3440
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia, Failure to thrive	ORPHA:411629
Helix Syndrome	Hypokalemia, Hypermagnesemia, Hyperparathyroidism	OMIM:617671
Rhombencephalosynapsis	Abnormality of the uterus	ORPHA:59315
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Failure to thrive, Azoospermia, Cryptorchidism, Hyponatremia, Hypokalemia, H...	ORPHA:534
Mercury Poisoning	Hypokalemia	ORPHA:330021
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Peno...	OMIM:618280
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis	OMIM:617913
Alg9-Cdg	Hypoplastic nipples, Bicornuate uterus, Hypoplasia of the ovary	ORPHA:79328
Tsh-Secreting Pituitary Adenoma	Secondary growth hormone deficiency, Male hypogonadism, Increased circulating prolactin concentra...	ORPHA:91347
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Failure to thrive,...	OMIM:241200
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Failure to thrive, Hypomagnesemia, Decreased response to growth hormone st...	OMIM:619503
Phocomelia, Schinzel Type	Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism	ORPHA:2879
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Bifid uterus, Hypospadias	OMIM:236680
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,...	ORPHA:97214
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:602522
Distal Renal Tubular Acidosis	Hypokalemia, Hemolytic anemia, Failure to thrive	ORPHA:18
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Aplasia of the uterus, Eosinophilia, Thrombocytopenia, Anemia, ...	OMIM:274000
Townes-Brocks Syndrome 1	Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa...	OMIM:107480
Fraser Syndrome	Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Ambiguou...	ORPHA:2052
Gitelman Syndrome	Hypermagnesemia, Failure to thrive, Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency an...	ORPHA:358
Meckel Syndrome, Type 1	Accessory spleen, Elevated amniotic fluid alpha-fetoprotein, Abnormality of the uterus, Ambiguous...	OMIM:249000
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst...	ORPHA:572333
Fraser Syndrome 1	Clitoral hypertrophy, Cryptorchidism, Micropenis, Vaginal atresia, Bicornuate uterus, Hypospadias	OMIM:219000
Limb-Mammary Syndrome	Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ...	ORPHA:69085
22Q11.2 Deletion Syndrome	Cholelithiasis, Failure to thrive, Abnormality of the uterus, Obesity, Cryptorchidism, Hypocalcem...	ORPHA:567
Norrie Disease	Cachexia, Failure to thrive, Uterine rupture, Cryptorchidism	ORPHA:649
Cowden Syndrome	Abnormal penis morphology, Failure to thrive, Abnormality of the uterus, Goiter, Endometrial carc...	ORPHA:201
Hermansky-Pudlak Syndrome 6	Absent platelet dense granules, Perineal fistula, Endometriosis	OMIM:614075
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia, Failure to thrive	OMIM:618426
Okamoto Syndrome	Bifid uterus, Splenomegaly	ORPHA:2729
Renal Agenesis	Absent vas deferens, Aplasia/hypoplasia of the uterus	ORPHA:411709
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Neu-Laxova Syndrome 1	Bifid uterus, Cryptorchidism	OMIM:256520
Acrofacial Dysostosis 1, Nager Type	Bicornuate uterus	OMIM:154400
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Bicornuate uterus, Hypospadias, Annular pancreas	OMIM:265380
Wolf-Hirschhorn Syndrome	Precocious puberty, Accessory spleen, Failure to thrive, Cryptorchidism, Aplasia of the uterus, H...	OMIM:194190
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Decreased circulating iron concentration, Increased circulating prolactin con...	ORPHA:438213
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypokalemia, Hypospadias	ORPHA:286
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Peters-Plus Syndrome	Cryptorchidism, Decreased body weight, Hypoplastic labia majora, Hypoplasia of the vagina, Biloba...	OMIM:261540
Alkaptonuria	Methemoglobinemia, Prostatitis, Hemolytic anemia, Black pigment gallstones	ORPHA:56
Lacrimoauriculodentodigital Syndrome	Abnormal salivary gland morphology, Bicornuate uterus, Cryptorchidism, Lacrimal gland aplasia	ORPHA:2363
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Uterus didelphys, Cryptorchidism, Ambiguous genitalia, Hypoplasia of penis, Urethrovaginal fistula	ORPHA:93271
Peters Plus Syndrome	Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia	ORPHA:709
Cutis Laxa, Autosomal Dominant 1	Uterine prolapse	OMIM:123700
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Bicorn...	OMIM:268300
Pallister-Hall Syndrome	Precocious puberty, Small scrotum, Secondary growth hormone deficiency, Aplasia/Hypoplasia of the...	ORPHA:672
Townes-Brocks Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Failure to thrive, Cryptorc...	ORPHA:857
Scorpion Envenomation	Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP co...	ORPHA:466677
Proximal Renal Tubular Acidosis	Hypokalemia, Failure to thrive, Bicarbonaturia	ORPHA:47159
Cornelia De Lange Syndrome	Failure to thrive, Abnormality of the uterus, Cryptorchidism, Hypoplastic labia majora, Hypoplast...	ORPHA:199
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypoplastic...	OMIM:276820
Coffin-Siris Syndrome 1	Aplasia of the uterus, Clitoral hypertrophy, Hypospadias, Cryptorchidism	OMIM:135900
Coffin-Lowry Syndrome	Uterine prolapse, Decreased body weight	OMIM:303600
Classical Ehlers-Danlos Syndrome	Cervical insufficiency, Uterine prolapse	ORPHA:287
Pallister-Killian Syndrome	Small scrotum, Supernumerary nipple, Obesity, Cryptorchidism, Aplasia of the uterus, Hypoplastic ...	OMIM:601803
Aneurysm-Osteoarthritis Syndrome	Uterine prolapse	ORPHA:284984
Loeys-Dietz Syndrome 3	Cystocele, Uterine prolapse	OMIM:613795
Myopia 21, Autosomal Dominant		OMIM:614167

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 Zfp644

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 Zfp644.

No publications found that use IMPC mice or data for Zfp644.

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

MGI Allele	Allele Type	Produced
Zfp644^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice
Zfp644^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Zfp644^{tm446409(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Zfp644^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

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: Zfp644 MGI:1277212

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Zfp644 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data