Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
enlarged ovary Dele1em2(IMPC)Ccpcz HOM Early adult 0.00
abnormal ovary morphology Dele1em2(IMPC)Ccpcz HOM Early adult 0.00
increased circulating potassium level Dele1em2(IMPC)Ccpcz HOM Early adult 3.83×10-05
abnormal vibrissa morphology Dele1em2(IMPC)Ccpcz HOM Early adult 1.12×10-05
enhanced contextual conditioning behavior Dele1em2(IMPC)Ccpcz HOM   Early adult 7.43×10-07
abnormal vertebral arch morphology Dele1em2(IMPC)Ccpcz HOM   Early adult 5.16×10-06

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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.

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

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
Hirsutism, Enlarged polycystic ovaries OMIM:184700
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Hirsutism, Elevated circulating growth hormone concentration, Enlarged kidney, Polycystic ovaries... ORPHA:90301
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Gonadoblastoma
Ovarian gonadoblastoma, Hirsutism, Gonadal dysgenesis with female appearance, male, Female extern... ORPHA:206484
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Precocious puberty, Hyperkalemia, Hyponatremia OMIM:614736
Functioning Gonadotropic Adenoma
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... ORPHA:91348
Rabson-Mendenhall Syndrome
Hypertrichosis, Precocious puberty, Hypokalemia, Hirsutism, Low anterior hairline, Premature gray... ORPHA:769
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Insulin-Resistance Syndrome Type B
Hirsutism, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentratio... ORPHA:2298
Ovarian Hyperstimulation Syndrome
Hirsutism, Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Enla... ORPHA:64739
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Hirsutism, Abnormal circulating lipid concentration OMIM:608709
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism, Sacral dimple ORPHA:1643
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Ambiguous geni... ORPHA:90796
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Opitz Gbbb Syndrome
Vertebral segmentation defect, Bicornuate uterus, Bifid scrotum, Hypospadias, Enlarged ovaries, S... ORPHA:2745
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Increased circulating gonadotropin level, Enlarged polycystic ovaries, ... ORPHA:785
Leprechaunism
Hypertrichosis, Hypokalemia, Hepatomegaly, Facial hypertrichosis, Increased circulating renin lev... ORPHA:508
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Melanonychia, Cervix cancer ORPHA:2869
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hirsutism, Ambiguous genitalia, female, Adrenocorticotropic hormone excess, Ambiguous genitalia, ... ORPHA:90791
Aromatase Deficiency
Generalized hirsutism, Ambiguous genitalia, female, Hyperlipidemia, Hypergonadotropic hypogonadis... ORPHA:91
Satoyoshi Syndrome
Alopecia universalis, Abnormal hair morphology, Hypoplasia of the uterus, Hypoplasia of the ovary... ORPHA:3130
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst ORPHA:397685
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hirsutism, Hypoplasia of the uterus, Thick eyebrow, Facial hirsutism,... ORPHA:247768
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hypergonadotropic hypogonadism, Hyperlordosis, Decreased testicular size, Polycystic ov... ORPHA:3085
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B... ORPHA:261529
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Alopecia, Streak ovary OMIM:241090
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Precocious puberty, Abnormal hair quantity, Cognitive impairment, Abnormal penis morphology, Alop... ORPHA:457059
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries, Fine hair ORPHA:2228
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hirsutism, Elevated circulating follicle stimulating hormone level, Abnormal external genitalia, ... ORPHA:95699
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... ORPHA:168558
Ovarian Fibrothecoma
Hirsutism, Abnormal endometrium morphology, Gonadal calcification, Ovarian fibroma, Abnormality o... ORPHA:314478
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... OMIM:228300
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... ORPHA:289548
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Scoliosis, Hyperkalemia, Decreased testicular size, ... OMIM:617053
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Hirsutism, Abnormality of the urethra, Abnormality of the ovary ORPHA:2795
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... ORPHA:90790
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Hepatomegaly ORPHA:79084
Cowden Syndrome
Kyphosis, Cognitive impairment, Abnormal penis morphology, Endometrial carcinoma, Scoliosis, Aden... ORPHA:201
Ovarian Fibroma
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary ORPHA:314473
Ataxia-Telangiectasia
Cognitive impairment, Hypopigmentation of hair, Polycystic ovaries, Premature graying of hair, Ab... ORPHA:100
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hypertriglyceridemia ORPHA:280356
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hyperkalemia, Splenomegaly OMIM:608885
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Burkitt Lymphoma
Abnormality of the ovary, Hyperuricemia ORPHA:543
Xp22.13P22.2 Duplication Syndrome
Sparse hair, Short neck, Scoliosis, Polycystic ovaries, High anterior hairline, Macroorchidism ORPHA:284180
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... ORPHA:90793
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Distal Monosomy 10P
Polycystic ovaries, Cryptorchidism, Short neck, Hypoplasia of penis ORPHA:1580
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia ORPHA:682
Preeclampsia
Polycystic ovaries, Elevated circulating creatinine concentration ORPHA:275555
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney OMIM:602088
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hirsutism, Ambiguous genitalia, female, Precocious puberty, Hypokalemia, Alopecia, Premature thel... ORPHA:90795
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Testicular adrenal rest tumor, Hyponatremia, Azoosperm... ORPHA:361
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hypertrichosis, Hepatomegaly, Low anterior hairline, Increased C-p... ORPHA:528
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst, Kyphosis, Mental deterioration OMIM:610475
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly ORPHA:79085
Birk-Landau-Perez Syndrome
Long eyelashes, Hyperkalemia, Increased circulating creatine kinase MB isoform, Camptocormia OMIM:617595
Lipodystrophy, Familial Partial, Type 3
Hirsutism, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Polycyst... OMIM:604367
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Abs... OMIM:614841
Liddle Syndrome 3
Hypokalemia OMIM:618126
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Hirsutism, ... ORPHA:90794
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceri... ORPHA:435660
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypokalemia, Hypoplasia of the vagina, Lon... OMIM:202010
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Elevated circulat... ORPHA:90797
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Goiter, Hypokalemia OMIM:613239
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly ORPHA:435651
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus, Hypokalemia OMIM:304900
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries, Sparse hair OMIM:268020
Proteus Syndrome
Kyphosis, Generalized hirsutism, Ovarian neoplasm, Splenomegaly, Scoliosis, Testicular neoplasm, ... ORPHA:744
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia, Ovarian neoplasm ORPHA:231632
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Cowden Syndrome 6
Hydrocele testis, Kyphosis, Ovarian cyst, Scoliosis, Varicocele, Goiter OMIM:615109
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Cowden Syndrome 5
Hydrocele testis, Kyphosis, Ovarian cyst, Scoliosis, Goiter OMIM:615108
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hypokalemia OMIM:188580
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... ORPHA:94093
Donohue Syndrome
Hypertrichosis, Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy OMIM:246200
Bangstad Syndrome
Polycystic ovaries, Abnormality of the parathyroid gland, Abnormal testis morphology ORPHA:1227
Cowden Syndrome 1
Hydrocele testis, Kyphosis, Ovarian cyst, Scoliosis, Varicocele, Goiter, Ovarian carcinoma OMIM:158350
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Polycystic ovaries ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hyperuricemia, Polycysti... ORPHA:79083
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Abnormal hair pattern, Gonadal dysgenesis ORPHA:1770
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... ORPHA:335
Liddle Syndrome
Hypokalemia ORPHA:526
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Pituitary adenoma, Hypokalemia, Hirsutism, Biconcave vertebral bodies, Vertebral compre... OMIM:219090
Addison Disease
Hypoparathyroidism, Sparse axillary hair, Increased circulating renin level, Hyponatremia, Hyperu... ORPHA:85138
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Abnormal eyebrow morphology, Lumbar hyperlordosis, Cryptorchidism, Small pituitary glan... ORPHA:2232
Mccune-Albright Syndrome
Precocious puberty, Elevated circulating growth hormone concentration, Hypophosphatemia, Ovarian ... ORPHA:562
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Cystic Echinococcosis
Abnormality of the testis size, Hepatomegaly, Hyperbilirubinemia, Ovarian cyst, Abnormality of th... ORPHA:400
Acute Adrenal Insufficiency
Sparse axillary hair, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcem... ORPHA:95409
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Hypoplasminogenemia
Decreased level of plasminogen, Abnormal fallopian tube morphology, Abnormality of the ovary, Cer... ORPHA:722
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Lysosomal Acid Lipase Deficiency
Cognitive impairment, Hepatosplenomegaly, Hypertriglyceridemia, Psychomotor deterioration, Hypona... ORPHA:275761
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Transient hypophosphatemia... ORPHA:79102
Fibrous Dysplasia Of Bone
Precocious puberty in females, Elevated circulating growth hormone concentration, Hypophosphatemi... ORPHA:249
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hirsutism, Nodular goiter, Premature thelarche, Abnormal form of the vertebral bodies, Polycystic... ORPHA:371428
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia, Alopecia, Nail dystrophy OMIM:175500
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Hypokalemia ORPHA:404
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Hypokalemia, Hyperamylasemia OMIM:604278
Luscan-Lumish Syndrome
Polycystic ovaries, Hirsutism, High anterior hairline OMIM:616831
Primary Lipodystrophy
Polycystic ovaries, Hyperlipidemia, Splenomegaly ORPHA:90970
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia OMIM:613677
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Hypokalemia ORPHA:403
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Left ventricular hypertrophy, Hypokalemia ORPHA:251274
Acquired Generalized Lipodystrophy
Generalized hirsutism, Hepatomegaly, Abnormal circulating lipid concentration, Hypertriglyceridem... ORPHA:79086
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Aplasia of the ovary, Elevated circulating follic... OMIM:614324
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Alopecia, Abnormal blood ion concent... ORPHA:31824
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Hypokalemia OMIM:611590
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Scoliosis, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Chromosome 17Q12 Deletion Syndrome
Hypertrichosis, Sparse eyebrow, Ovarian cyst, Scoliosis, Unicornuate uterus, Urethral stenosis, N... OMIM:614527
Generalized Glucocorticoid Resistance Syndrome
Hirsutism, Precocious puberty, Hypokalemia, Frontal balding, Oligospermia, Adrenal hyperplasia, A... ORPHA:786
Lipodystrophy, Familial Partial, Type 2
Hirsutism, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Labial ps... OMIM:151660
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceride... ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceride... ORPHA:370
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia, Back pain ORPHA:340
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Ovarian cyst, Pancreatic adenocarcinoma, Endometrial carcinoma ORPHA:454840
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hepatomegaly, Hypokalemia OMIM:613095
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Generalized hirsutism, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Hyper... ORPHA:280365
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia ORPHA:231580
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceride... ORPHA:264580
Infantile Systemic Hyalinosis
Polycystic ovaries, Short neck ORPHA:2176
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Bardet-Biedl Syndrome 1
Hirsutism, Micropenis, Left ventricular hypertrophy, Decreased testicular size, Hypogonadism, Vag... OMIM:209900
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Peutz-Jeghers Syndrome
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Neoplasm of the pancreas OMIM:175200
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
East Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level ORPHA:199343
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyperkalemia, Hyponatremia ORPHA:544482
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hypokalemia ORPHA:369929
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Hypokalemia, Decreased circulating renin level OMIM:615474
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:466650
Helix Syndrome
Hyperparathyroidism, Hypokalemia, Hypermagnesemia OMIM:617671
Carney Complex
Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Precociou... ORPHA:1359
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Hypokalemia, Decreased circulating renin level ORPHA:320
Lipodystrophy, Congenital Generalized, Type 1
Hirsutism, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Labial hypertrophy, Clitoral hypertr... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Hirsutism, Hepatomegaly, Splenomegaly, Elevated hemoglobin A1c, Hypertriglyceridemia, Labial hype... OMIM:269700
Cholera
Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia ORPHA:173
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Chordee, Labial hypoplasia, Vesicovaginal fistula, Bifid scrotum, Micropenis, Hypospadias, Hemive... OMIM:201750
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Myhre Syndrome
Thick eyebrow, Sparse hair, Platyspondyly, Enlarged vertebral pedicles, Short neck, Fine hair, Cr... OMIM:139210
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Hypokalemia, Hypertrichosis ORPHA:1501
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hepatomegaly, Cognitive impairment, Enlarged kidney, Hypertriglyceridemia, Hyperu... ORPHA:79259
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Cognitive impairment ORPHA:411629
Nelson Syndrome
Adrenocorticotropic hormone excess, Hypokalemia, Pituitary corticotropic cell adenoma, Anterior h... ORPHA:199244
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypomagnesemia, Hepatomegaly, Hypophosphatemia, Hypokalemia, Splenomega... OMIM:219800
Vipoma
Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone concentration, H... ORPHA:97282
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Ovarian cyst, Dry hair, Pancreatic cysts OMIM:311200
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Thick eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Elevated c... ORPHA:572333
Tsh-Secreting Pituitary Adenoma
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Enlarged pituitary gl... ORPHA:91347
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... ORPHA:411634
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:612780
Bartter Syndrome, Type 3
Hypokalemia, Hyperchloriduria, Increased circulating renin level OMIM:607364
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Scoliosis OMIM:170390
Mercury Poisoning
Hypokalemia ORPHA:330021
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... OMIM:601678
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Kyphosis, Hypophosphatemia, Hypokalemia, Hypoammonemia, Platyspondyly, Scolios... ORPHA:534
Digeorge Syndrome
Hydrocele testis, Cholelithiasis, Hypocalcemia, Splenomegaly, Ovarian cyst, Intervertebral disc d... OMIM:188400
Pearson Syndrome
Hypoparathyroidism, Hypomagnesemia, Hypophosphatemia, Hepatomegaly, Decreased response to growth ... ORPHA:699
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration OMIM:619377
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:263800
Osteogenesis Imperfecta
Kyphosis, Enlarged vertebral pedicles, Biconcave vertebral bodies, Scoliosis, Abnormal form of th... ORPHA:666
Turner Syndrome Due To Structural X Chromosome Anomalies
Kyphosis, Hyperlipidemia, Alopecia, Short neck, Scoliosis, Gonadoblastoma, Increased circulating ... ORPHA:99413
Turner Syndrome
Kyphosis, Hyperlipidemia, Alopecia, Short neck, Scoliosis, Gonadoblastoma, Increased circulating ... ORPHA:881
Mosaic Monosomy X
Kyphosis, Hyperlipidemia, Alopecia, Short neck, Scoliosis, Gonadoblastoma, Increased circulating ... ORPHA:99228
Monosomy X
Kyphosis, Hyperlipidemia, Alopecia, Short neck, Scoliosis, Gonadoblastoma, Increased circulating ... ORPHA:99226
Williams Syndrome
Cholelithiasis, Vertebral segmentation defect, Kyphosis, Precocious puberty, Hypoplasia of penis,... ORPHA:904
Histiocytoid Cardiomyopathy
Polycystic ovaries, Hepatomegaly, Cardiomegaly ORPHA:137675
Hepatocellular Carcinoma
Hypokalemia, Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia, Hyponatremia, Hypercalcemia ORPHA:88673
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... ORPHA:3337
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... ORPHA:90038
Marburg Hemorrhagic Fever
Hypokalemia, Orchitis, Back pain, Hyperammonemia, Elevated circulating creatine kinase concentrat... ORPHA:99826
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia ORPHA:89938
Gitelman Syndrome
Neoplasm of the pancreas, Hypomagnesemia, Hypokalemia, Hypocalcemia, Parathyroid adenoma, Hyperma... ORPHA:358
Bartter Syndrome, Type 2, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Increased serum prostaglandin E2,... OMIM:241200
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia, Hepatom... OMIM:619573
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Hypokalemia, Increased circulating creatine kinase... ORPHA:466677
Distal Renal Tubular Acidosis
Hypokalemia ORPHA:18
Vascular Ehlers-Danlos Syndrome
Uterine prolapse, Hypokalemia, Abnormality of hair texture, Cystocele, Uterine rupture, Cognitive... ORPHA:286
Alström Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Hyoplasia of the Leydig cells, Testicular fibrosis,... 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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