Gene Summary

Name:
cytochrome P450, family 17, subfamily a, polypeptide 1
Synonyms:
p450c17,  Cyp17,  steroid 17-alpha hydroxylase

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
decreased bone mineral density Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.74×10-19
increased circulating cholesterol level Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.77×10-07
absent external female genitalia Cyp17a1tm1b(EUCOMM)Wtsi HOM   Early adult 6.67×10-14
abnormal bone structure Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 5.22×10-11
hypoactivity Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 7.50×10-11
increased circulating creatinine level Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 9.64×10-08
increased blood urea nitrogen level Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.21×10-05
decreased bone mineral content Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 4.76×10-28
increased total body fat amount Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 6.03×10-23
abnormal male genitalia morphology Cyp17a1tm1b(EUCOMM)Wtsi HOM   Early adult 6.67×10-14
abnormal auditory brainstem response Cyp17a1tm1b(EUCOMM)Wtsi HOM   Early adult 8.75×10-05
decreased heart weight Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 4.98×10-05
improved glucose tolerance Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.21×10-06
increased circulating alkaline phosphatase level Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 8.68×10-05
decreased grip strength Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 7.88×10-10
abnormal vocalization Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.24×10-06
decreased lean body mass Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.82×10-22
increased circulating HDL cholesterol level Cyp17a1tm1b(EUCOMM)Wtsi HOM   Early adult 2.77×10-05
increased fasting circulating glucose level Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.63×10-25
decreased circulating phosphate level Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 5.95×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Phenotype associated images not available

Human diseases caused by Cyp17a1 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.

The table below shows human diseases associated to Cyp17a1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Primary amenorrhea, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenog... OMIM:202110

The table below shows human diseases predicted to be associated to Cyp17a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Oligosp... ORPHA:52901
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Abnormality of circulating adrenocor... ORPHA:251623
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Impaired social interactions, Male hypogonadism, Increased circulating gonadotrop... ORPHA:163976
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyc... OMIM:610947
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Hypoplasia of the uterus, Decreased circulating gonado... OMIM:614841
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche, Amenorrhea OMIM:145295
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Shyness, Hypergonado... ORPHA:163971
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Increased circulating gonadotro... ORPHA:755
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Hearing impairment, Type... ORPHA:181393
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Orthosta... OMIM:606721
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Decreased circulating ... ORPHA:90791
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:66628
49,Xxxyy Syndrome
Ambiguous genitalia, Male hypogonadism, Increased circulating gonadotropin level, Abnormality of ... ORPHA:261534
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipi... OMIM:232700
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Azoospermia, Oligospermia, Insulin resistance, Hypertriglyceridemia, Type I... OMIM:615703
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:179494
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Bone cyst, Adipose tissue loss, Lipod... ORPHA:528
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Non-obstructive azoospermia, Absence of secondary... ORPHA:432
Temple Syndrome
Hypercholesterolemia, Cryptorchidism, Maturity-onset diabetes of the young, Joint hypermobility, ... OMIM:616222
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
49,Xyyyy Syndrome
Male hypogonadism, Azoospermia, Increased circulating gonadotropin level, Abnormality of the test... ORPHA:99330
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Osteopenia OMIM:619073
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Rickets, Generalized aminoaciduria, Glycosuria, Osteopenia OMIM:613388
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration OMIM:201100
Analbuminemia
Osteoporosis, Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy... OMIM:616000
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Lipodystrophy, Hypertriglyceridemia, Redu... OMIM:612526
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Aplasia of the uterus, Abnormal circulating fol... ORPHA:99429
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Osteolysis, Bone cyst, Gait disturbance, Recurrent fractures, Coa... ORPHA:93160
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Generalized aminoaciduria, Glycosuria, Osteomalacia, Hypokalemia,... OMIM:227810
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Rickets, Generalized aminoaciduria, Impaired glucose tole... ORPHA:2088
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Osteomalacia, Rickets OMIM:193100
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95512
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Rickets, Aminoaciduria, Glycosuria, Osteomalacia, Hypokalemia OMIM:134600
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hearing impairment, Hypertriglyceridemia, Increased LDL cholesterol concent... OMIM:144300
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Rickets, Difficulty walking, Recurrent fractures, Thin bony cortex, Delayed epi... OMIM:600081
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide lev... ORPHA:157215
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95513
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Fibrous Dysplasia Of Bone
Hypophosphatemia, Ovarian cyst, Osteolysis, Patchy reduction of bone mineral density, Increased c... ORPHA:249
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Cryptorchidism, Increased circulating gonadotropin level, Aplasia of the ovary, Hype... ORPHA:2232
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Infertility, Ambiguous genitalia, Increased circulating cortiso... ORPHA:786
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait OMIM:607250
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Increased circulating androstenedione concentration, Long penis, Premature p... ORPHA:90795
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
47,Xyy Syndrome
Cryptorchidism, Impaired social interactions, Increased circulating gonadotropin level, Azoosperm... ORPHA:8
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Chondrocalcinosis, Generalized osteoporosis, Hypercalcemia, Infantile hypercalc... ORPHA:99879
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Enamel hypoplasia, Generalized aminoaciduria, Rickets, Difficulty walking, Recu... OMIM:264700
Cystinosis
Hypophosphatemia, Rickets, Gait disturbance, Aminoaciduria, Hypokalemia, Type I diabetes mellitus... ORPHA:213
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Hypercholesterolemia, Acroosteolysis of d... ORPHA:2457
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia, Osteopenia, Increased susceptibility to fractures, Osteoporosis OMIM:612287
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Rickets, Difficulty walking, Hypophosphatemic rickets, Recurrent fractures, Thi... OMIM:241530
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... ORPHA:91348
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Labial pseudohypertrophy, Increased intraabdominal fat, Hyperinsulinemia, A... OMIM:151660
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets, Aminoaciduria, Glycosuria OMIM:618913
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Joint hypermobility, Precocious puber... ORPHA:254531
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Enamel hypoplasia, Generalized aminoaciduria, Rickets, Difficulty... ORPHA:289157
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Enamel hypoplasia, Rickets, Difficulty walking, Recurrent fractures, Thin bony ... OMIM:277440
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Reduced bone mineral density ORPHA:2611
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Osteopenia, Increased susceptibility to fractures, Osteoporosis OMIM:612286
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration, Umbilical hernia, Aminoacid... OMIM:300555
Preeclampsia
Elevated circulating creatinine concentration, Type I diabetes mellitus, Small for gestational ag... ORPHA:275555
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait ORPHA:94124
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Decreased testicular size, Micropenis, Hypoplasia of the fallop... ORPHA:3464
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Rickets, Osteomalacia ORPHA:89937
Polyembryoma
Irregular menstruation, Increased serum testosterone level, Macroorchidism, Increased serum serot... ORPHA:180229
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Truncal obesity, Hypoplasia of penis, Osteoarthritis ORPHA:633
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Hypothyroidism, Erectile dysfunction, Decreased serum testosterone conce... ORPHA:465508
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Hearing impairment, Small for... OMIM:616733
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hearing impairment, Pathologic fracture, Waddling gait, Hypercalcemia, Knee fle... OMIM:156400
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Rickets, Hypophosphatemic rickets, Recurrent fractures, Osteomalacia, Thin bony... OMIM:300554
Dent Disease 1
Hypophosphatemia, Rickets, Recurrent fractures, Aminoaciduria, Glycosuria, Osteomalacia, Thin bon... OMIM:300009
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Mccune-Albright Syndrome
Hypophosphatemia, Ovarian cyst, Hyperplasia of the Leydig cells, Increased circulating cortisol l... ORPHA:562
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria OMIM:614817
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypo... ORPHA:398063
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Macular scar, Ankylosis, Hydroxyprolinemia, Hydroxyprolinuria, Recurrent fractures,... OMIM:239000
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Joint hypermobility, Hypercholesterolemia, Cryptorchidism, Maturity-onset diabetes of the young, ... ORPHA:96184
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Hypoplasia of the f... OMIM:241080
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Aminoaciduria, Glycosuria OMIM:308990
Ravine Syndrome
Decreased body weight, Failure to thrive, Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Delayed puberty, Decreased s... ORPHA:2959
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Hypophosphatemic rickets, Osteomalacia, Enamel hypomineralization, Osteoarthritis OMIM:307800
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Diabetes Mellitus, Permanent Neonatal, 2
Hypsarrhythmia, Flexion contracture, Reduced C-peptide level, Type I diabetes mellitus, Hyperglyc... OMIM:618856
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets OMIM:612089
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Lipodystrophy, Hyperuricemia, Insulin-resistant diabetes mel... OMIM:604367
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Delayed... OMIM:305400
Smith-Magenis Syndrome
Hypercholesterolemia, Abnormal heart morphology, Morphological abnormality of the middle ear, Hyp... OMIM:182290
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Generalized aminoaciduria, Hypophosph... ORPHA:3337
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Gait disturbance, Fibrous dysplasia of the bones, Pathologic frac... ORPHA:352540
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyp... OMIM:608600
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Hypergonadotropic hypogonadi... ORPHA:347
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Type ... ORPHA:3044
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Hypoalbuminemia OMIM:208920
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Cockayne Syndrome Type 1
Enamel hypoplasia, Cryptorchidism, Male hypogonadism, Increased blood urea nitrogen, Macrotia, Di... ORPHA:90321
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Hypercalcemia, Multiple lipomas OMIM:600740
Familial Parathyroid Adenoma
Hypophosphatemia, Mitral valve calcification, Recurrent fractures, Polyarticular chondrocalcinosi... ORPHA:99877
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Failure to th... OMIM:605814
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Pericarditis, Pericardial effusion, Elevated circulating C-reactiv... ORPHA:231111
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Abnormal sperm head morphology, Abnormal sperm morphology, D... ORPHA:320391
Leukoencephalopathy With Vanishing White Matter
Primary amenorrhea, Secondary amenorrhea, Decreased circulating progesterone, Primary gonadal ins... OMIM:603896
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Synovitis, Arthritis ORPHA:567544
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Hypocalcemia, Increased bone density with cystic changes, Hypocalcemic tetany,... ORPHA:94089
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hypogonadism, Hyperphosphatemia, Obesity OMIM:612462
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Decreased circulating aldosterone level, Female external genital... ORPHA:289548
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Decreased circulating aldosterone level, Female external genital... ORPHA:168558
Dent Disease
Rickets, Renal hypophosphatemia, Aminoaciduria, Recurrent fractures, Glycosuria, Osteomalacia, Th... ORPHA:1652
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Osteoporosis, Hypercholesterolemia, Fasting hypoglycemia, Hypoglycemia, Polycystic ovaries, Hyper... ORPHA:264580
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Cryptorchidism, Posteriorly rotated ears, Micropenis, Hyperphosphatemia, Hypocalcem... OMIM:241410
Azotemia, Familial
Azotemia OMIM:109160
X-Linked Hypophosphatemia
Hypophosphatemia, Craniosynostosis, Cellulitis, Rickets, Generalized osteosclerosis, Enthesitis, ... ORPHA:89936
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of... ORPHA:243
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Lethargy, Hyperuricemia, Reactive hypoglycemia ORPHA:469
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Abnormal heart morphology, Umbilical her... ORPHA:99886
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hypogonadism, Hyperphosphatemia, Obesity OMIM:103580
Hypophosphatemic Rickets
Hypophosphatemia, Rickets, Craniofacial osteosclerosis, Odontodysplasia, Enthesitis, Fibrous dysp... ORPHA:437
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Laryngeal dystonia, Hyperphosp... ORPHA:36913
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Craniosynostosis, Increased blood urea nitrogen, Recurrent fra... ORPHA:251004
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Primary amenorrhe... ORPHA:247768
Calciphylaxis
Cellulitis, Ectopic ossification, Hyperphosphatemia ORPHA:280062
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Renal hypophosph... ORPHA:289176
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Spontaneous abortion, Inc... ORPHA:96181
Meningioma
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... ORPHA:2495
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Overweight, Type II diabetes mellitus, Bicuspid aortic valve, Dilated cardi... ORPHA:401923
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Metacarpal periosteal thickening, Hypercalcemia, Osteopenia, Calvarial osteosclerosis, Hyperphosp... OMIM:617994
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Orthostatic hypotension, Ele... ORPHA:230
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Oligomenorrhea, Hypopl... OMIM:615300
Infantile Nephropathic Cystinosis
Hypophosphatemia, Rickets, Aminoaciduria, Abnormal blood ion concentration, Glycosuria, Hypokalem... ORPHA:411629
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Papilledema, Transient hypophosphatemia, Increased bone mineral density, Small for ... OMIM:127000
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Decreased body mass index, Acute hyperammonemia,... ORPHA:247585
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Joint hyperflexibility, Ataxia, Sensorineural hearing impairment, EEG abnor... ORPHA:2479
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Ovotestis, Ambiguous genitalia, Decreased testicular size, External genital... OMIM:610644
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Endometrial carcinoma, Hyperactive renin-angiotensin system... ORPHA:90790
Parathyroid Carcinoma
Osteoporosis, Hypophosphatemia, Chondrocalcinosis, Uterine leiomyoma, Weight loss, Hypercalcemia,... ORPHA:143
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Dystonia, Elevated alpha-fetoprotein, Ataxia, Hypoalbuminemia, Elevated cir... ORPHA:64753
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Fasting hypoglycemia, Abnormal heart morphology, Polycystic ovaries, Hypert... ORPHA:370
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612650
C3 Glomerulopathy
Elevated circulating creatinine concentration, Lipodystrophy ORPHA:329918
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Recurrent fractures, Aminoaciduria, Calcinosis, Hypercalcemia, Failure to thrive OMIM:239200
Sanjad-Sakati Syndrome
Hypocalcemia, Cryptorchidism, Abnormal dental enamel morphology, Low-set, posteriorly rotated ear... ORPHA:2323
Fructose Intolerance, Hereditary
Hypophosphatemia, Lethargy, Transient aminoaciduria, Hyperbilirubinemia, Bicarbonaturia, Hyperuri... OMIM:229600
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Raine Syndrome
Hypophosphatemia, Enamel hypoplasia, Arthrogryposis multiplex congenita, Abnormality of the pinna... OMIM:259775
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Lethargy, Delayed proximal femoral epiphyseal ossification, Macroorchidism,... ORPHA:90674
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis, Hypophosphatemia, Chondrocalcinosis, Uterine leiomyoma, Hypercalcemia, Testicular n... ORPHA:99880
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal testis morphology, Abnormal penis morphology, Recurrent fractures, Polycystic ovaries, O... ORPHA:457059
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Small for gestational age, Hypoalbuminemia,... ORPHA:86816
Familial Glucocorticoid Deficiency
Cryptorchidism, Impaired cortisol response to insulin stimulation test, Decreased circulating deh... ORPHA:361
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Cryptorchidism, Abnormal dental enamel morphology, Joint stiffness, Hypoamm... ORPHA:534
Smith-Magenis Syndrome
Hypercholesterolemia, Conductive hearing impairment, Gait disturbance, Failure to thrive in infan... ORPHA:819
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:248370
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Ataxia, Cupped ear, Osteopenia, Large fleshy ears OMIM:249310
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:608612
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness, Precocious puberty OMIM:300801
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Obesity OMIM:603233
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Osteoporosis, Azoospermia, Glucose intolerance, Tes... OMIM:235200
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Myoc... ORPHA:31824
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Chondrocalcinosis, Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Infantil... ORPHA:405
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked potentials... ORPHA:320401
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Hypercholesterolemia, Hypoalbuminemia, Ventricular septal defect OMIM:616730
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Glucose intolerance, Elevated circulating creatinine concen... OMIM:137920
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Sensorineural hea... OMIM:616648
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Pathologic... ORPHA:470
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... ORPHA:1215
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Ataxia, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalcemia, Osteoporosis, Chondrocalcinosis ORPHA:99878
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout, Elevated circulating creatinine concentration, Hyperuricemia, Dystonia ORPHA:79233
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Postlingual sensorineural ... ORPHA:52368
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Subperiosteal bone formation, Hyperostosis, Calcinosis, Hyperphosphatemia OMIM:211900
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea, Hypogonadotropic h... OMIM:604168
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m... OMIM:600501
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Restricted neck movement due to contractures, Flexion contracture of finger, Ingu... OMIM:193700
Cog4-Cdg
Hypercholesterolemia, Ataxia, Failure to thrive in infancy ORPHA:263501
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Gout, Decreased HDL cholesterol concentr... ORPHA:412
Sickle Cell Anemia
Osteoporosis, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Ost... ORPHA:232
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Impaired social interactions, Reduced sperm moti... ORPHA:330015
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Abnormal heart morphology, Steatorrhea, Glycosuria, Ataxia, Heari... ORPHA:699
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Increased blood urea nitrogen, Elevated circulating creatinine concentration, R... ORPHA:49041
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Inguinal hernia OMIM:614376
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Sensorineural hearing impairment, Azotemia OMIM:104200
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Craniosynostosis, Recurrent fractures, Osteopetrosis, Abnormal pu... ORPHA:667
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemia, Hypergonadotropic hypogonadism, Hypocalcemic tetany, Increased b... ORPHA:79444
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:618858
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Ciliary Dyskinesia, Primary, 19
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:614935
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Mildly elevated creatine kinase, Transient hypophosphatemia, Weight l... ORPHA:79102
Hyperphosphatasia With Mental Retardation Syndrome 3
Hearing impairment, Hyperphosphatemia OMIM:614207
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Epiphyseal stippling, Neonatal epiphyseal stippling, Hypogonadism, Hearing impair... OMIM:101800
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance, Hypoplasia of the uterus, Oste... OMIM:615363
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Hypocalcemia, Hypergonadotropic hypogonadism, Hypocalcemic tetany, Increased b... ORPHA:79443
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Hypophosphatemic rickets, Reduced C-peptide level, Uterine neoplasm, Hypoglycemi... ORPHA:2126
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia, Left ventricular hypertrophy ORPHA:90065
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Elevated circulating creatinine concentration, Situs inversus totalis OMIM:613095
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Aapoaiv Amyloidosis
Cardiac amyloidosis, Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipid... ORPHA:439232
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteoporosis, Xanthelasma, Hypercholesterolemia, Hypoglycemic seizures, Hyperuricemia, Hypoglycem... ORPHA:79259
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:606176
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Situs inversus totalis OMIM:602088
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Opsismodysplasia
Hypophosphatemia OMIM:258480
Autosomal Dominant Hypocalcemia
Hypocalcemia, Writer's cramp, Reduced bone mineral density, Hypomagnesemia, Optic atrophy, Hyperp... ORPHA:428
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduc... OMIM:601455
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperl... ORPHA:2089
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Endometrial carcinoma, Impot... ORPHA:273
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Orthostatic hypoten... OMIM:223900
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Failure to thrive, Decreased HDL cholest... OMIM:278000
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Hereditary Renal Hypouricemia
Hypouricemia, Hyperuricosuria, Increased blood urea nitrogen ORPHA:94088
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Cellulitis, Elevated circulating creatinine concentration, Septic arthritis, Hypoal... ORPHA:36234
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Hypercholesterolemia, Ventricular septal defect OMIM:618348
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Robinow Syndrome
Cryptorchidism, Webbed penis, Scrotal hypoplasia, External genital hypoplasia, Clitoral hypoplasi... ORPHA:97360
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Decreased skull oss... ORPHA:93325
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Macrotia, Reduced intraabdominal adipose tissue, Clitoral hypertrophy, Cystic a... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Macrotia, Reduced intraabdominal adipose tissue, Clitoral hypertrophy, Cystic a... OMIM:608594
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529799
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Truncal obesity, Coronary artery stenosis, Abdominal obesity OMIM:615812
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Weight loss, Pathologic fracture... ORPHA:29073
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Craniosynostosis, Sensorineural hearing impairment, Conducti... OMIM:201050
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Sitosterolemia 1
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration,... OMIM:210250
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Decreased ... ORPHA:293978
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cryptorchidism, Absence of labia majora, Decreased serum testosterone concentration, Hypoplastic ... ORPHA:495875
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Cryptorchidis... OMIM:309000
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ovarian cyst, Enlarged polycy... ORPHA:64739
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Rabson-Mendenhall Syndrome
Long penis, Enlarged ovaries, Hypothyroidism, Increased circulating androgen concentration, Insul... ORPHA:769
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Obesity ORPHA:209902
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:79126
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Mend Syndrome
Cryptorchidism, Abnormal heart morphology, Elevated 8-dehydrocholesterol, Aortic valve stenosis, ... ORPHA:401973
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Cryptorchidism, Hyperactivity, Hypospadias, Hypogonadism, Diabetes mellitus, Hyperp... ORPHA:280651
Donohue Syndrome
Ovarian cyst, Fasting hypoglycemia, Hyperinsulinemia, Long penis, Macrotia, Postprandial hypergly... OMIM:246200
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Oligomeganephronia
Optic disc coloboma, Secundum atrial septal defect, Elevated circulating creatinine concentration... ORPHA:2260
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Ventricular hypertrophy, Mitral valve calcification, Lipoatrophy, Hypertrig... ORPHA:363618
Cockayne Syndrome B
Osteoporosis, Cryptorchidism, Atypical scarring of skin, Reduced subcutaneous adipose tissue, Abn... OMIM:133540
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Oligomenorrh... ORPHA:91355
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Gait ataxia, Flexion contracture of finger, Limb ataxia, Unsteady gait, Sensor... ORPHA:101085
Leprechaunism
Fasting hypoglycemia, Long penis, Hyperinsulinemia, Insulin resistance, Enlarged ovaries, Recurre... ORPHA:508
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
48,Xxxy Syndrome
Infertility, Cryptorchidism, Azoospermia, Abnormal social behavior, Scrotal hypoplasia, Type II d... ORPHA:96263
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Gait ataxia, Autonomic bladder dysfunction, Orthostatic hypotension, Gait dis... ORPHA:99027
Cockayne Syndrome A
Cryptorchidism, Atypical scarring of skin, Gait disturbance, Abnormality of the pinna, Ataxia, Se... OMIM:216400
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Small for gest... OMIM:618857
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Conductive hearing impairment, Low-set, posteriorly rotated ears, Decreased ... OMIM:618885
Cerebrotendinous Xanthomatosis
Osteoporosis, Dystonia, Gait disturbance, Abnormal atrial septum morphology, Abnormal motor evoke... ORPHA:909
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Gait disturbance, Ataxia, EEG abnormality, Broad-... ORPHA:206448
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Cardiomyopathy ORPHA:247691
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Oligomenorrhea, Hypergonadotropic hypogonadism, H... ORPHA:572333
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Cardiomyocyte mitochondrial proliferation, Hyperkalemia,... ORPHA:423
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis, Increased circulating cortisol level, Increased body weight, Abdominal obesity, Hyp... OMIM:615954
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Gout, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Necrotizing Enterocolitis
Lethargy, Abnormal heart morphology, Hyponatremia, Small for gestational age, Hyperglycemia, Abno... ORPHA:391673
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Increased circulating androgen concentration, Diabetes mellitus ORPHA:2976
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor, Ataxia OMIM:619260
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Trisomy 10P
Flexion contracture of thumb, Low voltage EEG, Abnormal heart morphology, Macrotia, Camptodactyly... ORPHA:171929
Pyruvate Carboxylase Deficiency
Dystonia, Hyperglycemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased lev... ORPHA:3008
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Hyponatremia, Steatorrhea, Weight loss, Hypertriglyceridemia, ... ORPHA:275761
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Abnormality of the pinna, Hypoglycemia, Joint stiffness, Optic ner... OMIM:609069
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Elevated ... OMIM:617478
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cryptorchidism, Hypoplasia of the semicircular canal, Long-segment aganglionic megacolon, Ataxia,... OMIM:609136
Atypical Werner Syndrome
Ovarian neoplasm, Increased bone mineral density, Type II diabetes mellitus, Mitral valve prolaps... ORPHA:79474
Autosomal Dominant Polycystic Kidney Disease
Mitral valve prolapse, Elevated circulating creatinine concentration ORPHA:730
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior ORPHA:444002
Igg4-Related Kidney Disease
Prostatitis, Pericarditis, Elevated circulating creatinine concentration, Decreased retinol-bindi... ORPHA:449395
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Alagille Syndrome 1
Hypercholesterolemia, Atrial septal defect, Ventricular septal defect, Macrotia, Hypertriglycerid... OMIM:118450
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Hearing impairment, Cachexia, Failure to thrive, ... ORPHA:206436
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Lethargy, Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia,... ORPHA:466650
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Chordee, Elevated circulating 17-hydroxyproge... OMIM:201750
Dopa-Responsive Dystonia
Abnormal social behavior ORPHA:255
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Abnormal heart morphology, Contractures of the joints of the ... ORPHA:99885
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Joint laxity, Ventricular septal defect, Umbilical hernia, Neonatal insulin-depen... ORPHA:96191
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Myocardial steatosis, Optic neuropathy, Increased LDL cholesterol concentra... ORPHA:391665
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Goodpasture Syndrome
Increased blood urea nitrogen, Weight loss OMIM:233450
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Papilledema, Aminoaciduria, Weight loss, Elevated ... ORPHA:91500
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Cryptorchidism, Long penis, Increased serum testosterone level OMIM:264090
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Ventricular septal defect,... OMIM:600001
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Flexion contracture, Optic nerve hypoplasia, Abdominal obesity, Decreased testicular si... OMIM:619321
Fg Syndrome Type 1
Cryptorchidism, Small pituitary gland, Abnormal social behavior, Hypospadias ORPHA:93932
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Increased serum testosterone level, Increased serum estradiol, Polymicrogyria, In... ORPHA:3455
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Abnormal social behavior, External genital hypoplasia, Anterior pit... ORPHA:177907
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the male genitalia... ORPHA:228123
Alström Syndrome
Puberty and gonadal disorders, Hyoplasia of the Leydig cells, Hyperinsulinemia, Oligospermia, Hyp... ORPHA:64
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Primary amenorrhea, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenog... OMIM:202110
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Koolen-De Vries Syndrome Due To A Point Mutation
Cryptorchidism, Overfriendliness, Primary adrenal insufficiency, Hypothyroidism, Abnormal social ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cryptorchidism, Overfriendliness, Primary adrenal insufficiency, Hypothyroidism, Abnormal social ... ORPHA:363958
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Pancreatic endocrine tumor, Pheochromocytoma, Abnormal social behavior, ... ORPHA:805
Williams Syndrome
Cryptorchidism, Overfriendliness, Hypothyroidism, Abnormal social behavior, Polycystic ovaries, U... ORPHA:904
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Abnormal cortical gyration ORPHA:314647
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646

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 Cyp17a1

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 Cyp17a1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
CYP17A1 deficient XY mice display susceptibility to atherosclerosis, altered lipidomic profile and atypical sex development. Scientific reports (May 2020) Cyp17a1tm1a(EUCOMM)Wtsi PMC7260244

Order Mouse and ES Cells

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Cyp17a1tm42149(L1L2_st0) Targeting vectors
Cyp17a1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Cyp17a1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter