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Gene: Cyp17a1 MGI:88586

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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
abnormal male genitalia morphology Cyp17a1tm1b(EUCOMM)Wtsi HOM   Early adult 6.67×10-14
increased total body fat amount Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 6.03×10-23
decreased heart weight Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 4.98×10-05
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
decreased bone mineral density Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.74×10-19
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
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
abnormal bone structure Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 5.22×10-11
increased circulating alkaline phosphatase level Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 8.68×10-05
decreased locomotor activity Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 7.50×10-11
increased circulating HDL cholesterol level Cyp17a1tm1b(EUCOMM)Wtsi HOM   Early adult 2.77×10-05
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
decreased lean body mass Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.82×10-22
increased circulating creatinine level Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 9.64×10-08
increased circulating cholesterol level Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.77×10-07
improved glucose tolerance Cyp17a1tm1b(EUCOMM)Wtsi HOM Early adult 1.21×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

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
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Primary amenorrhea, Adrenal hyperplasia, Ambiguous genitalia, 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 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:619613
X-Linked Intellectual Disability, Van Esch Type
Increased circulating gonadotropin level, Type II diabetes mellitus, Decreased serum testosterone... ORPHA:163976
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Gout, Osteoporosis, Impaired glucose tolerance, Hypertriglyc... OMIM:610947
Pituicytoma
Amenorrhea, Abnormality of the pituitary gland, Impotence, Decreased serum testosterone concentra... ORPHA:251623
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... OMIM:614841
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hypersecretion Of Adrenal Androgens, Familial
Amenorrhea, Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity OMIM:145295
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
X-Linked Intellectual Disability, Cilliers Type
Increased circulating gonadotropin level, Decreased serum testosterone concentration, Hypergonado... ORPHA:163971
Leydig Cell Hypoplasia
Increased circulating gonadotropin level, Decreased serum testosterone concentration, Cryptorchid... ORPHA:755
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... ORPHA:181393
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Cryptorchidism, Decreased testicular size, Hypogonadi... OMIM:300869
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:261534
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Hypophosphatemic Rickets, Autosomal Recessive, 1
Sensorineural hearing impairment, Hypophosphatemic rickets, Hypophosphatemia, Increased bone mine... OMIM:241520
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... OMIM:278850
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... OMIM:618723
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Increased serum serotonin, Abnormal nonverbal communicative behavior OMIM:300496
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Increased serum serotonin, Abnormal nonverbal commun... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Increased serum serotonin, Abnormal nonverbal communicative behavior OMIM:300425
Autism
Impaired ability to form peer relationships, Increased serum serotonin, Abnormal nonverbal commun... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Increased serum serotonin, Abnormal nonverbal commun... OMIM:608636
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... OMIM:616222
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Cryptorchi... ORPHA:432
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... ORPHA:453533
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Bone cyst, Hyperinsulinemia, Increased C-peptid... ORPHA:528
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Osteopenia, Glycosuria, Generalized aminoaciduria, Rickets OMIM:613388
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Generalized lipodystrophy, Hypertriglyceridemi... OMIM:612526
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Hypophosphatemia, Bone cyst, Hypocalcemia, Abnormal adipose tissue morpholog... ORPHA:93160
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Aminoaciduria, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes me... OMIM:616026
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Osteopenia, Glycosuria, Impaired... ORPHA:2088
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Failure to thrive, Hypophosphatemia, Hypokalemia, Osteomalac... OMIM:227810
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... ORPHA:206484
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Rickets OMIM:193100
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, F... OMIM:600081
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Hearing impairment, Increased LDL cholesterol concentration, Hypercholester... OMIM:144300
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia OMIM:607250
Ovarian Dysgenesis 4
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... OMIM:616185
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia, Aminoaciduria, Osteomalacia, Glycosuria, Rickets OMIM:134600
Cystinosis
Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Gait disturbance, Type I diabete... ORPHA:213
Ane Syndrome
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... ORPHA:157954
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Reduced bone mineral density, Osteomalacia, Pathologi... ORPHA:157215
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Adenohypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s... ORPHA:95512
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, F... OMIM:264700
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia... ORPHA:77296
Hypophosphatemic Bone Disease
Hypophosphatemia, Osteomalacia, Rickets OMIM:146350
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Increased circulating gonadotropin level, Infertility, Impotence, Decreased serum testosterone co... ORPHA:2232
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Ins... ORPHA:2457
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Osteopenia, Chondrocalcinosis, Generalized osteoporosis, Hypercalcemia, Infanti... ORPHA:99879
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... ORPHA:399805
Panhypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s... ORPHA:95513
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hypophosphatemia, Fibrous dysplasia of the bones, Increased circul... ORPHA:249
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Hypophosphatemia, Delayed epiphyseal ossification,... OMIM:241530
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... ORPHA:786
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, F... OMIM:277440
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Ambiguous genitalia, female, Precocious puberty, Decreased ci... ORPHA:90795
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
47,Xyy Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level, Micropenis, Hypospa... ORPHA:8
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Joint hypermobility, Obesity, Hyperchol... ORPHA:254531
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Glycosuria, Aminoaciduria OMIM:618913
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Hypocalcemia, Failure ... ORPHA:289157
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia ORPHA:94124
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Reduced bone mineral density ORPHA:2611
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... ORPHA:91348
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Metrorrhagia, Abnormal circu... ORPHA:314478
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration, Umbilical hernia, Aminoacid... OMIM:300555
Laron Syndrome
Hypoplasia of penis, Osteoarthritis, Truncal obesity, Hypoglycemia, Hypercholesterolemia ORPHA:633
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Joint stiffness, Increased adipose tissue around the neck, H... OMIM:248370
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyp... OMIM:619868
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Osteomalacia, Rickets, Hypocalcemia ORPHA:89937
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Galactokinase Deficiency
Sensorineural hearing impairment, Failure to thrive, Hyperinsulinemia, Small for gestational age,... ORPHA:79237
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased... ORPHA:3464
Preeclampsia
Polycystic ovaries, Elevated circulating creatinine concentration, Type I diabetes mellitus, Smal... ORPHA:275555
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Hypophosphatemia, Osteopenia, Pathologic fracture, Waddling gait, Hypercalcemia,... OMIM:156400
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, A... OMIM:300009
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Hypophosphatemia, Delayed epiphyseal ossification,... OMIM:300554
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypoalbuminemia, W... ORPHA:398063
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria OMIM:614817
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium concentration, Osteoarth... OMIM:307800
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Small for gestational age, Left ventricular hypertrophy, Elevated circulatin... OMIM:616733
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
46,Xy Sex Reversal 4
Sensorineural hearing impairment, Sex reversal, Hypoplasia of the uterus, Increased blood urea ni... OMIM:154230
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Mccune-Albright Syndrome
Recurrent fractures, Monostotic fibrous dysplasia, Hypophosphatemia, Fibrous dysplasia of the bon... ORPHA:562
Ravine Syndrome
Failure to thrive, Ataxia, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes... ORPHA:96184
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal... OMIM:604367
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
46,Xx Sex Reversal 5
Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level OMIM:618901
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop... OMIM:241080
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Glycosuria, Aminoaciduria OMIM:308990
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum testosterone concentration, Micropenis, Hypergonadotropic hypogonadism, Hypospadi... ORPHA:2959
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Rickets OMIM:615605
Non-Functioning Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... ORPHA:91349
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism OMIM:201100
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... OMIM:305400
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Diabetes Mellitus, Permanent Neonatal, 2
Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level, Hypsarrhythmia, Hyperglyc... OMIM:618856
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Elevated circulating creatine kinase concentration, Trun... OMIM:208920
Paget Disease Of Bone 5, Juvenile-Onset
Sensorineural hearing impairment, Recurrent fractures, Hydroxyprolinuria, Failure to thrive, Incr... OMIM:239000
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Increased serum serotonin, Abnormal nonverbal communicative behavior OMIM:300495
Oncogenic Osteomalacia
Hypophosphatemia, Fibrous dysplasia of the bones, Hypocalcemia, Pathologic fracture, Gait disturb... ORPHA:352540
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Scarring, Ataxia, Increased blood urea nitrogen, Cryptorchid... ORPHA:90321
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Rickets, Hypercalcemia OMIM:612089
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
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con... OMIM:179800
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Orthostatic hypotension, Joint hypermobility, Neon... OMIM:223360
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Chondrocalcinosis, Osteomalacia, Multiple lipomas, Hypercalcemia, Hypermagnesemia OMIM:600740
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Osteomalacia, Glycosuria, Hypoglycemia, ... ORPHA:3337
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Type ... ORPHA:3044
Blue Diaper Syndrome
Increased body weight, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia, Recu... ORPHA:94086
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, Streak ovary, Hypergo... ORPHA:347
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Cryptorchidism, Micropenis, Patchy osteosclerosis, Hyperphosphatemia, Low-set ears,... OMIM:241410
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism, Obesity OMIM:612462
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism, Obesity, S... OMIM:103580
Leukoencephalopathy With Vanishing White Matter
Primary amenorrhea, Secondary amenorrhea, Primary gonadal insufficiency, Decreased circulating pr... OMIM:603896
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Bicuspid aortic valve, Atrial septal defect, Decreased serum creatinine, Hypoc... OMIM:617744
Smith-Magenis Syndrome
EEG abnormality, Hypertriglyceridemia, Morphological abnormality of the middle ear, Increased bod... OMIM:182290
Ataxia With Vitamin E Deficiency
Ataxia, Progressive cerebellar ataxia, Increased LDL cholesterol concentration, Dysmetria, Abnorm... OMIM:277460
Combined Oxidative Phosphorylation Deficiency 55
High-frequency hearing impairment, Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, El... OMIM:619743
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Synovitis, Arthritis ORPHA:567544
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
46,Xx Gonadal Dysgenesis
Streak ovary, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the uterus, Secondary... ORPHA:243
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... ORPHA:320391
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, D... ORPHA:90794
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Cryptorchidism, Camptodactyly, Elevated circulating creatinine concentration, ... OMIM:608104
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Polycystic ovaries, Increased body weight, Elevated circulating creatine ki... ORPHA:79240
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Increased blood urea nitrogen, Craniosynostosis, Hypercalcemia, Obesity, Abn... ORPHA:251004
Hypophosphatemic Rickets
Joint stiffness, Failure to thrive, Hypophosphatemia, Fibrous dysplasia of the bones, Precocious ... ORPHA:437
Hereditary Fructose Intolerance
Hypophosphatemia, Reactive hypoglycemia, Hyperuricemia, Hypermagnesemia, Lethargy ORPHA:469
X-Linked Hypophosphatemia
Sensorineural hearing impairment, Hypophosphatemia, Cellulitis, Craniosynostosis, Reduced bone mi... ORPHA:89936
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Polycystic ovaries, Elevated circulating creatine kinase concentration, Osteop... ORPHA:264580
Dent Disease
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Aminoaciduria, Rena... ORPHA:1652
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Oligomenorrhea, Primary ame... OMIM:615300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Overfolded helix, Eleva... OMIM:608836
Calciphylaxis
Ectopic ossification, Hyperphosphatemia, Cellulitis ORPHA:280062
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Enamel hypoplasia, Hypocalcem... ORPHA:94089
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Infantile Nephropathic Cystinosis
Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Abnormal blood ion c... ORPHA:411629
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Type II diabetes mellitus, Dilated cardiomyopathy, Hypercholesterolemia, O... ORPHA:401923
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Sensorineural hearing imp... ORPHA:289176
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypoplasia of the ut... OMIM:202010
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Primary... ORPHA:247768
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Orthostatic hypotension, Hypoglycemia, Elevated ... ORPHA:230
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Increased bone mineral density, Small for gestational age, Papilledema, Hyperphosph... OMIM:127000
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Ataxia, Osteopenia, Hyperchole... ORPHA:2479
Sanjad-Sakati Syndrome
Hypocalcemia, Hypoplasia of penis, Patchy osteosclerosis, External ear malformation, Low-set, pos... ORPHA:2323
Meningioma
Amenorrhea, Enlarged pituitary gland, Impotence, Decreased serum testosterone concentration, Redu... ORPHA:2495
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuri... OMIM:219800
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentr... ORPHA:64753
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Metacarpal periosteal thickening, Hyperphosphatemia, Hypercalcemia, Calvarial osteosc... OMIM:617994
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... ORPHA:247585
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Juvenile Nephropathic Cystinosis
Failure to thrive, Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Glycosuria, Hypoca... ORPHA:411634
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Male pseudohermaphrod... ORPHA:90790
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... OMIM:125250
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Hyperparathyroidism, Neonatal Severe
Recurrent fractures, Failure to thrive, Hypophosphatemia, Aminoaciduria, Hypercalcemia, Calcinosis OMIM:239200
Parathyroid Carcinoma
Hypophosphatemia, Lipoma, Chondrocalcinosis, Osteoporosis, Testicular neoplasm, Weight loss, Hype... ORPHA:143
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Raine Syndrome
Abnormal pinna morphology, Hypophosphatemia, Protruding ear, Increased bone mineral density, Mixe... OMIM:259775
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Recurrent fractures, Precocious puberty, Abnormal penis morphology, Testicular neoplasm, Hyperpho... ORPHA:457059
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
External genital hypoplasia, Hypospadias, Ovotestis, Hypertriglyceridemia, Ambiguous genitalia, C... OMIM:610644
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Polycystic ovaries, Elevated circulating creatine kinase concentration, Hypert... ORPHA:370
Smith-Magenis Syndrome
Joint stiffness, Conductive hearing impairment, EEG abnormality, Precocious puberty, Gait disturb... ORPHA:819
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Difficulty walking, A... ORPHA:320401
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Lipoma, Chondrocalcinosis, Osteoporosis, Testicular neoplasm, Hypercalcemia, In... ORPHA:99880
Optic Atrophy 8
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Optic atrophy, Mitra... OMIM:616648
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Myocarditis, Abnormal blood ion conc... ORPHA:31824
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Fructose Intolerance, Hereditary
Failure to thrive, Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Glycosuria, Hyp... OMIM:229600
Megalocornea-Mental Retardation Syndrome
Large fleshy ears, Ataxia, Osteopenia, Cupped ear, Hypercholesterolemia OMIM:249310
Pseudohypoparathyroidism, Type Ib
Obesity, Hypocalcemia, Hyperphosphatemia OMIM:603233
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Umbilical hernia, Joint stiffness, Osteomalacia, Arthritis, Hyponatremia, Abnormal... ORPHA:534
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyrogl... ORPHA:90674
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Hypogonado... OMIM:235200
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Leydig cell n... ORPHA:361
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Nephrotic Syndrome, Type 11
Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... ORPHA:95699
Familial Hypocalciuric Hypercalcemia
Lipoma, Renal hypophosphatemia, Chondrocalcinosis, Osteomalacia, Hypercalcemia, Hypermagnesemia, ... ORPHA:405
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Steatorrhea, Osteopenia, Intraalveolar phospholipid... ORPHA:470
Cog4-Cdg
Ataxia, Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Recurrent fractures, Hypophosphatemia, Hypocalcemia, Cranios... ORPHA:667
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Gout, Hypertrig... ORPHA:412
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis OMIM:211900
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... OMIM:618858
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Sickle Cell Anemia
Osteomyelitis, Elevated circulating creatinine concentration, Osteoporosis, Unconjugated hyperbil... ORPHA:232
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Ataxia, Steatorrhea, Small for gesta... ORPHA:699
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Elevated circulating C-reactive protein concentration, Increased blood urea nit... ORPHA:49041
Renal Cysts And Diabetes Syndrome
Glucose intolerance, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Maturity-... OMIM:137920
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Glucose intolerance, Failure to thrive, Dysmetria, Small for... OMIM:606721
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Increased serum serotonin, Abnormal nonverbal commun... OMIM:608049
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Arthrogryposis, Distal, Type 2A
Hip contracture, Recurrent fractures, Flexion contracture of finger, Failure to thrive, Joint con... OMIM:193700
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased seru... OMIM:604168
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase... ORPHA:79102
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
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
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Lead Poisoning
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... ORPHA:330015
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide l... OMIM:606176
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Alport Syndrome 3, Autosomal Dominant
Sensorineural hearing impairment, Azotemia, Hypophosphatemia OMIM:104200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Calvarial hyperostosis, Small for gestational age, Optic atrophy, Neonatal epiphy... OMIM:101800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hearing impairment, Hyperphosphatemia OMIM:614207
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Aapoaiv Amyloidosis
Cardiac amyloidosis, Hyperlipidemia, Elevated circulating creatinine concentration, Diabetes mell... ORPHA:439232
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hyperglycemia, Hypercholesterolemia ORPHA:90065
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia, Clitoral hy... ORPHA:96181
Pseudohypoparathyroidism Type 1A
Sensorineural hearing impairment, Hypocalcemia, Increased bone mineral density, Reduced bone mine... ORPHA:79443
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Hyperlipidemia, Osteopenia, Polycystic ovaries, Gout, Osteoporosis, Hypoglycem... ORPHA:79259
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evok... OMIM:601455
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Hypoinsulinemia, Uterine neoplasm, Prostate cancer, Hypoglycemia, Weigh... ORPHA:2126
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ... ORPHA:2089
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated alpha-fetoprotein, Situs inversus totalis, Dextrocardia, Elevated circulati... OMIM:613095
Bardet-Biedl Syndrome 20
Atrial septal defect, Micropenis, Papilledema, Male hypogonadism, Hypercholesterolemia, Obesity, ... OMIM:619471
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Joint hypermobility, Joint contracture of the hand, Aminoaciduria, Camptodacty... OMIM:309000
Gaisböck Syndrome
Hyperproteinemia, Gout, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, H... ORPHA:90041
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Elevated circulating creatinine concentration, Increased blood urea nitr... OMIM:223900
Nephronophthisis 2
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Increased bone mineral density, Hypergonadotropic hypogonadism, Ectopic ossificatio... ORPHA:79444
Genetic Recurrent Myoglobinuria
Hypocalcemia, Difficulty walking, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, O... ORPHA:85450
Galloway-Mowat Syndrome 7
Ventricular septal defect, Dilated cardiomyopathy, Hypercholesterolemia OMIM:618348
Opsismodysplasia
Low-set ears, Hypophosphatemia, Posteriorly rotated ears OMIM:258480
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, Decreased serum t... ORPHA:273
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Inguinal hernia, Craniosynostosis, Camptodactyly of toe, Hypospadi... OMIM:175700
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Type II diabetes mellitus, Unsteady gait, Cardiomyopathy, Hyper... OMIM:520000
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Diffi... OMIM:601596
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Diabetes mellitus, Hypercholesterolemia ORPHA:69663
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Polycystic ovaries, ... ORPHA:2298
Lysosomal Acid Lipase Deficiency
Failure to thrive, Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholestero... OMIM:278000
Ciliary Dyskinesia, Primary, 15
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm OMIM:613808
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia ORPHA:94088
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Osteomyelitis, Cellulitis, Elevated circulating creatine kinase concentration, Myoc... ORPHA:36234
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Papilledema, Hypocalcemic tetany, Hyperphosphatemia, ... ORPHA:93325
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Inguinal hernia OMIM:614376
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529808
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Multiple Myeloma
Osteopenia, Hyperproteinemia, Pathologic fracture, Elevated circulating creatinine concentration,... ORPHA:29073
Robinow Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Cryptorchidism, Micropen... ORPHA:97360
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potenti... OMIM:201050
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Coronary artery stenosis, Hypercholesterolemia OMIM:615812
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Sitosterolemia 1
Arthritis, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hypercholest... OMIM:210250
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Decreased serum testosterone concentration, Hypospadias, Absence of labia majora, Absent scrotum,... ORPHA:495875
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Reduced bone mineral density, Optic atrophy, Hyperphosphatemia ORPHA:428
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:79126
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating... ORPHA:64739
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... ORPHA:293978
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Gout, Hyperuricemia ORPHA:79233
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... ORPHA:206443
Diffuse Alveolar Hemorrhage
Weight loss, Elevated circulating creatinine concentration ORPHA:90060
Congenital Disorder Of Glycosylation, Type Iit
Conductive hearing impairment, Decreased HDL cholesterol concentration, Decreased serum creatinin... OMIM:618885
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior ORPHA:444002
Oligomeganephronia
Secundum atrial septal defect, Congenital diaphragmatic hernia, Small for gestational age, Optic ... ORPHA:2260
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Precocious puberty, Diabetic ketoacidosis, Long penis, Hypoth... ORPHA:769
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Abnormal autonomic nervous system physiology, Elevated circulating ... ORPHA:94093
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... OMIM:246200
Cockayne Syndrome B
Sensorineural hearing impairment, Reduced subcutaneous adipose tissue, Abnormal pinna morphology,... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Hip contracture, Abnormal pinna morphology, Ivory epiphyses of ... OMIM:216400
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Flexion contracture of fin... ORPHA:101085
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... ORPHA:3240
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Aortic valve stenosis, Mitral valve calcification, Hypertriglyceridemia, Hypercholes... ORPHA:363618
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Ataxia, Flexion contracture, Abnormal autonomic nervous system ... ORPHA:99027
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Abcd Syndrome
Large for gestational age, Abnormal auditory evoked potentials, Total intestinal aganglionosis, H... OMIM:600501
Mend Syndrome
Failure to thrive, Aortic valve stenosis, Cryptorchidism, Elevated 8(9)-cholestenol, Abnormal aud... ORPHA:401973
Diabetes Mellitus, Permanent Neonatal, 3
Small for gestational age, Glycosuria, Athetosis, Type I diabetes mellitus, Hyperglycemia, Interi... OMIM:618857
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Abnormal social behavior, Decreased ... ORPHA:96263
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials OMIM:619260
Marburg Hemorrhagic Fever
Hypokalemia, Orchitis, Hyperammonemia, Elevated circulating creatine kinase concentration, Arthri... ORPHA:99826
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hypospadias, Hyperphosphatemia, Hypogonadism, Obesity, Cryptorchidism, Diabetes mel... ORPHA:280651
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia, Cardiomyocyte mitochond... ORPHA:423
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Osteoporosis, Increased body weight, Hyp... OMIM:615954
Sheehan Syndrome
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Dyspareunia, Central adrenal insuf... ORPHA:91355
Adult Krabbe Disease
Broad-based gait, Ataxia, EEG abnormality, Gait disturbance, Prolonged brainstem auditory evoked ... ORPHA:206448
Immunodeficiency 47
Sensorineural hearing impairment, Failure to thrive, Decreased circulating copper concentration, ... OMIM:300972
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Necrotizing Enterocolitis
Small for gestational age, Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis, Lethargy, A... ORPHA:391673
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Cardiomyopathy ORPHA:247691
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Glycosuria, Decreased serum iron, Unconjugated hyperbilirubinemia,... ORPHA:447
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Eleva... ORPHA:572333
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Papillorenal Syndrome
Sensorineural hearing impairment, Elevated circulating creatinine concentration, Joint laxity, Op... OMIM:120330
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Atrioventricular canal defect, Osteopenia, Ventricu... OMIM:619534
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Cerebrotendinous Xanthomatosis
Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve conduction velocity, ... ORPHA:909
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Joint stiffness, Abnormal pinna morphology, Failure to thriv... OMIM:609069
Lysosomal Acid Lipase Deficiency
Failure to thrive, Steatorrhea, Cachexia, Hypertriglyceridemia, Hyponatremia, Hypercholesterolemi... ORPHA:275761
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hydrocele testis, Atrial s... ORPHA:79330
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Increased circulating androgen concentration, Diabetes mellitus ORPHA:2976
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Gout, Hyperuricemia OMIM:174000
Leprechaunism
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Protruding ear, Hypokalemia, Hyp... ORPHA:508
Trisomy 10P
Flexion contracture of thumb, EEG with focal spikes, Small for gestational age, EEG with burst su... ORPHA:171929
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Atypical Werner Syndrome