banner
Genes Phenotypes Help, News, Blog

Gene: Cyp17a1 MGI:88586

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased locomotor activity Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 7.50×10-11
increased circulating cholesterol level Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.77×10-07
abnormal bone structure Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 5.22×10-11
decreased bone mineral density Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.74×10-19
absent external male genitalia Cyp17a1tm1b(EUCOMM)Wtsi HOM   Early adult 6.67×10-14
decreased bone mineral content Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 4.76×10-28
abnormal vocalization Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.24×10-06
increased blood urea nitrogen level Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.21×10-05
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
abnormal male genitalia morphology Cyp17a1tm1b(EUCOMM)Wtsi HOM   Early adult 6.67×10-14
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
increased fasting circulating glucose level Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.63×10-25
increased total body fat amount Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 6.03×10-23
increased circulating creatinine level Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 9.64×10-08
decreased grip strength Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 7.88×10-10
increased circulating HDL cholesterol level Cyp17a1tm1b(EUCOMM)Wtsi HOM   Early adult 2.77×10-05
decreased circulating phosphate level Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 5.95×10-05
decreased lean body mass Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.82×10-22

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
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... 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 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Shyness, Cryptorchidism, Increased circulating gonad... ORPHA:163971
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Leydig Cell Hypoplasia
Abnormal internal genitalia, Decreased serum testosterone concentration, Hypospadias, Abnormal ex... ORPHA:755
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... OMIM:615703
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero... OMIM:232700
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... OMIM:241520
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Hypoglycemia, Congenital sensorineural hearing impairment, Elevat... OMIM:617872
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Atrial septal defect, Hype... OMIM:620211
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Hypertriglyceridemia, Diabetes mellitus, Precocious puberty in ... ORPHA:528
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Analbuminemia
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... OMIM:616000
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Insu... OMIM:612526
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Gait disturbance, Hypocalcemia, Abnorma... ORPHA:93160
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Rickets, Glycosuria, Am... OMIM:616026
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Fanconi-Bickel Syndrome
Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Rickets, General... ORPHA:2088
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Ataxia, Steppage gait, Hypoalbuminemia, Hypercholester... OMIM:607250
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia OMIM:193100
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa... OMIM:144300
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Cystinosis
Rickets, Hypokalemia, Aminoaciduria, Gait disturbance, Hypophosphatemia, Type I diabetes mellitus... ORPHA:213
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperur... ORPHA:77296
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Waddling gait, Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Red... ORPHA:157215
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Generalized aminoacidur... OMIM:227810
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c... OMIM:610947
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Sparse ... OMIM:264700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... OMIM:241530
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Posteriorly rotated ears, Maturity-onset diabete... OMIM:616222
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Antalgic gait, Osteomalacia, Hypercalcemia, Diabetes mel... ORPHA:249
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Generalized aminoaciduria, Glycosuria, Hy... OMIM:613388
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... OMIM:277440
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Hypercholesterolemia, Joint hy... ORPHA:254531
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... ORPHA:90795
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia OMIM:612287
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia ORPHA:94124
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Hypophosphatemia, Generalized osteoporosis, Chondrocalcinosis ORPHA:99879
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... OMIM:618014
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Glycosuria, Aminoaciduria, Hypophosphatemia OMIM:618913
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Increased susc... ORPHA:289157
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Fanconi Renotubular Syndrome 1
Osteomalacia, Rickets, Glycosuria, Hypokalemia, Aminoaciduria, Hypophosphatemia OMIM:134600
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Reduced bone mineral density ORPHA:2611
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia OMIM:612286
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Dent Disease 2
Umbilical hernia, Aminoaciduria, Elevated circulating creatine kinase concentration, Hypophosphat... OMIM:300555
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Galactokinase Deficiency
Hypoglycemia, Hypergonadotropic hypogonadism, Small for gestational age, Sensorineural hearing im... ORPHA:79237
Laron Syndrome
Hypoplasia of penis, Hypoglycemia, Osteoarthritis, Truncal obesity, Hypercholesterolemia ORPHA:633
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipos... OMIM:248370
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia ORPHA:89937
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
Osteopetrosis, Autosomal Recessive 9
Papilledema, Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine ... OMIM:620366
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Refractory Celiac Disease
Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop... ORPHA:398063
Preeclampsia
Type I diabetes mellitus, Small for gestational age, Elevated circulating creatinine concentratio... ORPHA:275555
Dent Disease 1
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Glycosuria, Sparse b... OMIM:300009
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Waddling gait, Hypercalcemia, Knee flexion contracture, Hypophosphat... OMIM:156400
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... ORPHA:3044
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... OMIM:307800
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration, Le... OMIM:616733
46,Xy Sex Reversal 4
Distal symphalangism, Hypergonadotropic hypogonadism, Sensorineural hearing impairment, Elevated ... OMIM:154230
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Prema... ORPHA:3464
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Macroorchidism, Osteomalacia, Recurrent fractures, Primary hyper... ORPHA:562
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Aminoaciduria, Hypophosphatemia OMIM:308990
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... OMIM:208920
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Hypogonadism, Decreased testicular size OMIM:201100
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Fa... OMIM:613845
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria, Rickets, Glycosuria OMIM:615605
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Gait disturbance, Hypocalc... ORPHA:352540
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum testosterone concentration, Premature ovarian insufficiency, Hypergonadotropic hy... ORPHA:2959
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy... OMIM:239000
Diabetes Mellitus, Permanent Neonatal, 2
Reduced C-peptide level, Flexion contracture, Hypsarrhythmia, Type I diabetes mellitus, Hyperglyc... OMIM:618856
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Foot joint contracture, Ataxia, Scarring, Cryptorchidism, Ma... ORPHA:90321
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... OMIM:202010
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... OMIM:608600
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Orthostatic Hypotension 1
Orthostatic hypotension, Joint hypermobility, Increased blood urea nitrogen, Hypomagnesemia, Neon... OMIM:223360
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis OMIM:600740
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Blue Diaper Syndrome
Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,... ORPHA:94086
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphat... ORPHA:3337
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Bicuspid aortic valve, Decreased serum creatinine, Atrial septal defect, Hypoh... OMIM:617744
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Obesity, Hyperphosphatemia, Hypogonadism, Hypocalcemia, Hypocalcemic tetany, Enamel... OMIM:612462
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... OMIM:277460
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... OMIM:619743
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Obesity, Subcutaneous ossification, Hypogonadism, Hyperphosphatemia, Hypocalcemic t... OMIM:103580
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Smith-Magenis Syndrome
Hypertriglyceridemia, Increased body weight, Abnormal heart morphology, EEG abnormality, Hypercho... OMIM:182290
Ravine Syndrome
Failure to thrive, Ataxia, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, O... ORPHA:79240
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Hereditary Fructose Intolerance
Reactive hypoglycemia, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Lethargy ORPHA:469
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Osteoporo... ORPHA:264580
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Hyperchol... OMIM:616267
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Decreased circulating progesterone, Primary amenorrhea, Secondar... OMIM:603896
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Abnormal sperm morphology, Decreased testicular size... ORPHA:320391
Dent Disease
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre... ORPHA:1652
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Patchy osteosclerosis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia,... OMIM:241410
Idiopathic Non-Lupus Full-House Nephropathy
Arthritis, Elevated circulating creatinine concentration, Synovitis ORPHA:567544
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Glycosuria, Hypokalemia, Aminoaciduria, Hypophosphatem... ORPHA:411629
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Hypercalcemia, Craniosynostosis, Abnormal dental enamel morphology, Obesity,... ORPHA:251004
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sensorineural hearing impairment, ... ORPHA:89936
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Type II diabetes mellitus, Hypercholes... ORPHA:401923
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Elevated circulating creatinine concentration, Perimembranous ventricular septal ... OMIM:608104
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Poster... OMIM:608836
Calciphylaxis
Ectopic ossification, Hyperphosphatemia, Cellulitis ORPHA:280062
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Papilledema, Small for gestational ag... OMIM:127000
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating... ORPHA:230
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Ataxia, Sensorineural hearing impairment, Protruding ear, Joint hyperflexibility, EEG... ORPHA:2479
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Rickets, Generalized aminoaciduria... OMIM:219800
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Abnormal dental enamel morphology, Patchy... ORPHA:2323
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... ORPHA:411634
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... ORPHA:36913
Hyperparathyroidism, Neonatal Severe
Calcinosis, Recurrent fractures, Hypercalcemia, Aminoaciduria, Hypophosphatemia, Failure to thrive OMIM:239200
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Joint stiffness, Precocious puberty, Obesity,... ORPHA:819
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ne... ORPHA:2495
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... ORPHA:96181
Cog4-Cdg
Hypercholesterolemia, Ataxia, Failure to thrive in infancy ORPHA:263501
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Raine Syndrome
Increased bone mineral density, Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinn... OMIM:259775
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H... OMIM:610644
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Gout OMIM:617056
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia OMIM:612736
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Protruding ear, Aminoaciduria, Hyponatremia, Low-set, posteriorly rotated ears, Os... ORPHA:534
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... ORPHA:320401
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Colchicine Poisoning
Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc... ORPHA:31824
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Lethargy, Abnormal circulating serine concen... ORPHA:470
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubine... OMIM:229600
Parathyroid Carcinoma
Hypercalcemia, Testicular neoplasm, Osteoporosis, Weight loss, Uterine leiomyoma, Hypophosphatemi... ORPHA:143
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... ORPHA:1215
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Neuhauser Syndrome
Osteopenia, Ataxia, Cupped ear, Large fleshy ears, Hypercholesterolemia OMIM:249310
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulating ferritin co... OMIM:235200
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... ORPHA:79102
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia OMIM:616730
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Craniosynostosis, Recurrent fractures, Reduced bone mineral ... ORPHA:667
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Gout, ... ORPHA:412
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Testicular neoplasm, Osteoporosis, Uterine leiomyoma, Hypophosphatemia, Lipoma, Ch... ORPHA:99880
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Macroorchi... ORPHA:90674
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia, Enamel hypoplasia OMIM:211900
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Pearson Syndrome
Diabetes mellitus, Ataxia, Small for gestational age, Steatorrhea, Abnormal heart morphology, Hyp... ORPHA:699
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Sickle Cell Anemia
Elevated circulating creatinine concentration, Osteomyelitis, Osteoporosis, Unconjugated hyperbil... ORPHA:232
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo... ORPHA:94089
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Sensorineural hearing impairment, Hearing impairment, Hypophosphatemia OMIM:104200
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... ORPHA:405
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... OMIM:606721
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Impaired glucose tolerance, Hypospadias, Maturity-onset diabetes of the young,... OMIM:137920
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
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, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Failure to thrive, Small for gestational age, Rec... OMIM:193700
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased seru... OMIM:604168
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia ORPHA:90065
Aapoaiv Amyloidosis
Diabetes mellitus, Cardiac amyloidosis, Hyperlipidemia, Elevated circulating creatinine concentra... ORPHA:439232
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Sensorineural hearing... ORPHA:79443
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus totalis, Eleva... OMIM:613095
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Osteopetrosis, Absent brainst... ORPHA:3240
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility OMIM:620197
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Nephronophthisis 2
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Osteoporosis, Gout, Increased sus... ORPHA:79259
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... ORPHA:330015
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Cryptorchidism, Neonatal epiphyseal stippling, Optic atrophy, Epiphyse... OMIM:101800
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Solitary Fibrous Tumor
Hypoglycemia, Vaginal neoplasm, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Pro... ORPHA:2126
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Lethargy, Failure t... ORPHA:2089
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Obesity, Gout, Hyperproteinemia, Increased c... ORPHA:90041
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Obesity, Hyperphospha... ORPHA:79444
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking ORPHA:99845
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Elevated circulating creatinine concentration, Increased blood urea nitr... OMIM:223900
Robinow Syndrome
Decreased serum testosterone concentration, Small scrotum, External genital hypoplasia, Cryptorch... ORPHA:97360
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D... ORPHA:495875
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Bardet-Biedl Syndrome 20
Papilledema, Bilateral cryptorchidism, Obesity, Male hypogonadism, Atrial septal defect, Hypercho... OMIM:619471
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Opsismodysplasia
Posteriorly rotated ears, Low-set ears, Hypophosphatemia OMIM:258480
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Osteomalacia, Elevated circulating creatine kinase concentration, Elevated mat... OMIM:309000
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Cln3 Disease
Increased circulating androgen concentration ORPHA:228346
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Bacterial Toxic-Shock Syndrome
Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Myocarditis, Elevat... ORPHA:36234
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity ORPHA:69663
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, ... ORPHA:93325
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529799
Multiple Myeloma
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperprote... ORPHA:29073
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Inguinal hernia, Elevated circulating creatinine concentration OMIM:614376
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbumin... ORPHA:2298
Autosomal Dominant Hypocalcemia
Optic atrophy, Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Preling... ORPHA:52368
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Arthritis, Xanthelasm... OMIM:210250
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Posteriorly rotated ears, Conductive hearing impairment,... OMIM:618885
Acute Interstitial Pneumonia
Pericardial effusion, Elevated circulating creatinine concentration, Elevated circulating C-react... ORPHA:79126
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Gout ORPHA:79233
Oligomeganephronia
Small for gestational age, Congenital diaphragmatic hernia, Secundum atrial septal defect, Optic ... ORPHA:2260
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... ORPHA:769
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials OMIM:619260
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Azoospermia, Hypogonadism, Infertility, Type ... ORPHA:96263
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulating creati... OMIM:617478
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Diabetes Mellitus, Permanent Neonatal, 3
Small for gestational age, Athetosis, Interictal epileptiform activity, Glycosuria, Type I diabet... OMIM:618857
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Ataxia, Small for gestational age, Abnormal auditory evoked ... OMIM:133540
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Ataxia, Optic atrophy, Joint contracture, Failure... OMIM:616881
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... ORPHA:99027
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Ataxia, Abnormal pinna morphology, Abnormal... OMIM:216400
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Hyperchol... ORPHA:363618
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Mend Syndrome
Abnormal auditory evoked potentials, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)... ORPHA:401973
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Elevated creatine kinase after exercise, Hyperphosphatemia, Cardiomyocyte mitochond... ORPHA:423
Marburg Hemorrhagic Fever
Pericarditis, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, ... ORPHA:99826
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Immunodeficiency 47
Decreased circulating copper concentration, Sensorineural hearing impairment, Hypercholesterolemi... OMIM:300972
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis, Increased body weight, Increased circulating cortisol level, Abdominal obesity, Hyp... OMIM:615954
Papillorenal Syndrome
Joint laxity, Sensorineural hearing impairment, Optic disc coloboma, Elevated circulating creatin... OMIM:120330
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cardiomyopathy, Elevated circulating creatinine concentration ORPHA:247691
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Glycosuria, Unconjugated hyperbilirubinemia, Increased blood urea nitrogen,... ORPHA:447
Cerebrotendinous Xanthomatosis
Osteopenia, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy, Dec... ORPHA:909
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... ORPHA:91355
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea... ORPHA:275761
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Mogs-Cdg
Absent brainstem auditory responses, External genital hypoplasia, Cardiomegaly, Sensorineural hea... ORPHA:79330
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal de... OMIM:619534
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility... ORPHA:572333
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Gout OMIM:174000
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... ORPHA:206448
Trisomy 10P
Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG wit... ORPHA:171929
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Ataxia, Aganglionic megacolon, Short-segment aganglionic meg... OMIM:609136
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration ORPHA:2976
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... ORPHA:99889
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Atypical Werner Syndrome
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, In... ORPHA:79474
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... ORPHA:206436
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Mitral valve prolapse ORPHA:730
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... ORPHA:466650
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Alagille Syndrome 1
Failure to thrive, Hypertriglyceridemia, Ventricular septal defect, Macrotia, Low-set ears, Atria... OMIM:118450
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration, Decreased body we... ORPHA:340
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Igg4-Related Kidney Disease
Pericarditis, Elevated circulating C-reactive protein concentration, Elevated circulating creatin... ORPHA:449395
Fg Syndrome Type 1
Cryptorchidism, Abnormal social behavior, Hypospadias, Small pituitary gland ORPHA:93932
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Elevated circulating C-reactive protein concentration, Elevated circulating creatini... ORPHA:91500
Goodpasture Syndrome
Weight loss, Increased blood urea nitrogen OMIM:233450
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, External ge... ORPHA:177907
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, Failure to thrive, Co... OMIM:600001
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... ORPHA:99829
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypogonadotropic hypogonadism, Hypospadias, Decreased response to growth hormone... ORPHA:3455
Homozygous Familial Hypercholesterolemia
Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Myocardial steatosis, ... ORPHA:391665
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Cryptorchidism, Long penis, Hypoplasia of the thymus, Increased serum testosterone l... OMIM:264090
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... ORPHA:363958
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia... ORPHA:228123
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Alström Syndrome
Precocious puberty in females, Hypergonadotropic hypogonadism, Decreased response to growth hormo... ORPHA:64
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Pheochromocytoma, Parathy... ORPHA:805
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Polycysti... ORPHA:904
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Abnormal cortical gyration ORPHA:314647
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.

MGI Allele Allele Type Produced
Cyp17a1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Cyp17a1tm42149(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
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