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Gene: Dele1 MGI:1914089

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Gene Summary

Name:
DAP3 binding cell death enhancer 1
Synonyms:
0610009O20Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vertebral arch morphology Dele1em2(IMPC)Ccpcz HOM   Early adult 5.00×10-06
enlarged ovary Dele1em2(IMPC)Ccpcz HOM Early adult 0.00
enhanced contextual conditioning behavior Dele1em2(IMPC)Ccpcz HOM   Early adult 7.43×10-07
abnormal vibrissa morphology Dele1em2(IMPC)Ccpcz HOM Early adult 7.23×10-06
increased circulating potassium level Dele1em2(IMPC)Ccpcz HOM Early adult 3.83×10-05
abnormal ovary morphology Dele1em2(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Dele1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dele1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Hirsutism OMIM:184700
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Hirsutism, Polycy... ORPHA:90301
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Gonadoblastoma
Hirsutism, Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, ... ORPHA:206484
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries ORPHA:488191
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Rabson-Mendenhall Syndrome
Enlarged ovaries, Clitoral hypertrophy, Thick hair, Precocious puberty, Long penis, Low anterior ... ORPHA:769
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Alopecia, Abnormal circulating lipid concentration, Enlarged polycystic ovaries... ORPHA:2298
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Opitz Gbbb Syndrome
Bifid scrotum, Short attention span, Enlarged ovaries, Hypospadias, Cryptorchidism, Widow's peak,... ORPHA:2745
Xp22.3 Microdeletion Syndrome
Sacral dimple, Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism,... ORPHA:90796
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hirsutism, Polycystic ovaries OMIM:608709
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Peutz-Jeghers Syndrome
Melanonychia, Cervix cancer, Pancreatic adenocarcinoma, Enlarged polycystic ovaries ORPHA:2869
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Penoscrotal hypospadias, Hypospadias, Female external genitalia in individual with ... ORPHA:90791
Satoyoshi Syndrome
Hyperlordosis, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or absent eyelashes, Hy... ORPHA:3130
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Aromatase Deficiency
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... ORPHA:91
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Short neck, Synophrys, Hypoplasia of the uterus, Facial hirsutism... ORPHA:247768
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal external genitalia, Increased circulating renin level ORPHA:556037
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor... ORPHA:261529
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Cryptorchidism, Hyponatremia, Hyperkalemia OMIM:614736
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... OMIM:201810
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Polycystic ovaries, Decr... ORPHA:3085
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal external genitalia, Increased circulating renin level ORPHA:556030
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Increased size of the clitoris, Abnormality of male external genitalia, Adren... ORPHA:95699
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Short neck, Polycystic ovaries, Scoliosis, Attention deficit hyperactivity disord... ORPHA:284180
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries, Fine hair ORPHA:2228
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Abnormal spermatogenesis,... OMIM:228300
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... OMIM:618528
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Ovarian Fibrothecoma
Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, Abnormality of the ovary... ORPHA:314478
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries ORPHA:79084
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Kyphosis, Adenoma ... ORPHA:201
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... ORPHA:168558
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries ORPHA:280356
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... ORPHA:289548
Ataxia-Telangiectasia
Hypopigmentation of hair, Polycystic ovaries, Premature graying of hair, Cognitive impairment, Ab... ORPHA:100
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hyperkalemia, Micropha... OMIM:617053
Burkitt Lymphoma
Hyperuricemia, Abnormality of the ovary ORPHA:543
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Hyperkalemi... ORPHA:90790
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Cholelithiasis, Hyperkalemia, Increased circulating renin level ORPHA:171876
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Hirsutism, Polycystic ovaries ORPHA:2795
Preeclampsia
Elevated circulating creatinine concentration, Polycystic ovaries ORPHA:275555
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney OMIM:602088
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries, Short neck ORPHA:1580
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Clitoral hypertrophy, Decreased circulating renin level, Premature thelarche, Isosexual... ORPHA:90795
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal... ORPHA:528
Birk-Landau-Perez Syndrome
Hyperkalemia, Camptocormia, Long eyelashes, Increased circulating creatine kinase MB isoform OMIM:617595
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Pigmented Nodular Adrenocortical Disease, Primary, 2
Mental deterioration, Kyphosis, Ovarian cyst OMIM:610475
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Polycystic ovaries, Hyperuricemia,... OMIM:604367
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Familial Glucocorticoid Deficiency
Hyponatremia, Precocious puberty, Cryptorchidism, Hyperkalemia, Testicular adrenal rest tumor, Az... ORPHA:361
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absent pubic hair, Hypoplasia of the uterus, Hypop... OMIM:614841
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries ORPHA:79085
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Hyponatremia, Hypogonadotropic hypogonadism, Abnormal external genitalia, Fro... ORPHA:90794
Renal Hypoplasia, Bilateral
Hyponatremia, Cryptorchidism, Hyperkalemia ORPHA:97362
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycysti... ORPHA:435660
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Hypercalcemia, Pituitary adenoma, Adrenocorticotropic hormone d... ORPHA:199299
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Kyphosis, Splenomegaly, Lon... ORPHA:744
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia, Ovarian neoplasm ORPHA:231632
Cowden Syndrome 6
Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Varicocele, Goiter OMIM:615109
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Cowden Syndrome 5
Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Goiter OMIM:615108
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries ORPHA:435651
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma OMIM:617100
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Generalized hirsutism ORPHA:2348
Donohue Syndrome
Precocious puberty, Long penis, Ovarian cyst, Clitoral hypertrophy, Hypertrichosis OMIM:246200
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Pituitary adenoma, Hypokalemia, Biconcave vertebral bodies, Vertebral compression fract... OMIM:219090
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hyperuricemia, Generalized ... ORPHA:79083
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Hyponatremia, Small scrotum, Hypospadias, Cryptorchidism, Vesi... OMIM:201750
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Goiter OMIM:188580
Cowden Syndrome 1
Kyphosis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scoliosis, Varicocele, Goiter OMIM:158350
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Abnormal hair pattern, Polycystic ovaries ORPHA:1770
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Alopecia, Alopecia totalis, Decreased response to growth hormone stimulation test, ... ORPHA:293978
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Left ventricular hypertrophy, Micropenis, Decreased testicular size, Ri... ORPHA:335
Liddle Syndrome
Hypokalemia ORPHA:526
Bangstad Syndrome
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries ORPHA:1227
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Lumbar hyperlordosis, Sparse facial hair, Streak ovary, Hy... ORPHA:2232
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Goiter OMIM:613239
Cystic Echinococcosis
Hepatomegaly, Abnormality of the testis size, Ovarian cyst, Abnormality of the vertebral column, ... ORPHA:400
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... ORPHA:562
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Splenomegaly, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Hypoplasminogenemia
Cervicitis, Decreased level of plasminogen, Abnormality of the ovary, Abnormal fallopian tube mor... ORPHA:722
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormone concentration, ... ORPHA:249
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Abnormal form of the vertebral bodies, Polycystic ovaries, Nodular goiter, H... ORPHA:371428
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Luscan-Lumish Syndrome
High anterior hairline, Hirsutism, Polycystic ovaries OMIM:616831
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Sparse axillary hair, Hyperkalemia, Increased circulating renin leve... ORPHA:95409
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Addison Disease
Hypoparathyroidism, Hyponatremia, Primary testicular failure, Hypercalcemia, Sparse axillary hair... ORPHA:85138
Lysosomal Acid Lipase Deficiency
Psychomotor deterioration, Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Hepatosplenomegaly, ... ORPHA:275761
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia, Confusion ORPHA:31826
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Hypokalemia, Nail dystrophy, Hypocalcemia, Hypomagnesemia OMIM:175500
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Familial Hyperaldosteronism Type I
Hypokalemia, Adrenal hyperplasia ORPHA:403
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Familial Hyperaldosteronism Type Ii
Hypokalemia, Adrenal hyperplasia ORPHA:404
Acquired Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Abnormal circulating lipid concentration,... ORPHA:79086
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Hemorrhagic Fever-Renal Syndrome
Back pain, Confusion, Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Exercise-Induced Malignant Hyperthermia
Confusion, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, H... ORPHA:466650
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Colchicine Poisoning
Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc... ORPHA:31824
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly OMIM:611590
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Labial pseudohypertr... OMIM:151660
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Hypokalemia, Adrenal hyperplasia ORPHA:251274
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:79240
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Frontal balding, Precocious puberty, Oligozoospermia, Hypokalemia, Ambiguous... ORPHA:786
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Chromosome 17Q12 Deletion Syndrome
Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Nail ... OMIM:614527
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Enlarged kidney, Ovarian serous cystadenoma, Scoliosis ORPHA:276280
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating al... OMIM:613095
Short Syndrome
Ovarian cyst OMIM:269880
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level ORPHA:231580
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:264580
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone ... ORPHA:293987
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Polycy... ORPHA:280365
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Infantile Systemic Hyalinosis
Polycystic ovaries, Short neck ORPHA:2176
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Bardet-Biedl Syndrome 1
Decreased testicular size, Hypogonadism, Vaginal atresia, Left ventricular hypertrophy, Micropeni... OMIM:209900
Mercury Poisoning
Hypokalemia, Confusion ORPHA:330021
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm OMIM:175200
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Corticosteroid-Binding Globulin Deficiency
Hypokalemia OMIM:611489
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bil... OMIM:227810
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Hyperparathyroidism, Enlarged kidney OMIM:618188
Helix Syndrome
Hypokalemia, Hyperparathyroidism, Hypermagnesemia OMIM:617671
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Adrenal hyperplasia ORPHA:369929
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Labial hypertrophy, Hirsutism, Polycystic ovari... OMIM:608594
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Hypokalemia, Decreased circulating renin level ORPHA:320
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Labial hypertrophy, Hi... OMIM:269700
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce... ORPHA:1359
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Hypokalemia, Hypertrichosis ORPHA:1501
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Hypokalemia, Decreased circulating renin level OMIM:615474
Myhre Syndrome
Vertebral fusion, Short neck, Cryptorchidism, Fine hair, Enlarged vertebral pedicles, Platyspondy... OMIM:139210
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Polycystic ovaries, Hyperuricemia, Cognitive ... ORPHA:79259
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Cognitive impairment, Hypophosphatemia ORPHA:411629
Digeorge Syndrome
Pilonidal sinus, Parathyroid agenesis, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, Ov... OMIM:188400
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Hypopigmentation of hair, Progressive neurologic deterioration, Splen... OMIM:219800
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hig... ORPHA:572333
Orofaciodigital Syndrome I
Alopecia, Dry hair, Pancreatic cysts, Ovarian cyst, Sparse hair OMIM:311200
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Sparse scalp hair, Hyperparathyroidism, Hypoammonemia, Kyphosis, Cryptorchidism, Fi... ORPHA:534
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Nelson Syndrome
Testicular neoplasm, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormone excess, Hy... ORPHA:199244
Tsh-Secreting Pituitary Adenoma
Abnormal hair quantity, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Female hypogonad... ORPHA:91347
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97282
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Scoliosis OMIM:170390
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... OMIM:601678
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level OMIM:607364
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Pancreatic fibrosis, Decreased response to growth hormone stimu... ORPHA:699
Osteogenesis Imperfecta
Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebral bodie... ORPHA:666
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Short neck, Kyphosis, Increased circulating gonadotropin level, Low posterior hairline,... ORPHA:99413
Turner Syndrome
Alopecia, Short neck, Kyphosis, Increased circulating gonadotropin level, Low posterior hairline,... ORPHA:881
Mosaic Monosomy X
Alopecia, Short neck, Kyphosis, Increased circulating gonadotropin level, Low posterior hairline,... ORPHA:99228
Monosomy X
Alopecia, Short neck, Kyphosis, Increased circulating gonadotropin level, Low posterior hairline,... ORPHA:99226
Marburg Hemorrhagic Fever
Back pain, Confusion, Elevated circulating creatine kinase concentration, Hyperamylasemia, Orchit... ORPHA:99826
Williams Syndrome
Sacral dimple, Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circul... ORPHA:904
Histiocytoid Cardiomyopathy
Hepatomegaly, Polycystic ovaries, Cardiomegaly ORPHA:137675
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration OMIM:619377
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:263800
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:602522
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Gitelman Syndrome
Neoplasm of the pancreas, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Parathyroid... ORPHA:358
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... OMIM:241200
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentr... OMIM:619573
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Distal Renal Tubular Acidosis
Hypokalemia ORPHA:18
Scorpion Envenomation
Hypokalemia, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase... ORPHA:466677
Vascular Ehlers-Danlos Syndrome
Alopecia, Hypospadias, Abnormality of hair texture, Abnormal eyelash morphology, Cryptorchidism, ... ORPHA:286
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Hypoplasia of the Leyd... ORPHA:64
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia ORPHA:47159

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 Dele1

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 Dele1.

No publications found that use IMPC mice or data for Dele1.

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