Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
bone gamma-carboxyglutamate protein 2
Synonyms:
osteocalcin,  mOC-B,  bone Gla protein,  OG2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Bglap2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Bglap2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Decreased serum testosterone concentration, Decreased testicular size, Microcepha... ORPHA:163976
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Infertility, Hepatic steatosis, Polycystic ovaries, H... ORPHA:280356
Morbid Obesity And Spermatogenic Failure
Infertility, Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Azoospermia, Increased ... OMIM:615703
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Abnormal sperm morphology, Female hypogon... ORPHA:52901
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:179494
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Polycystic ovaries, Hyperinsulinemia, Hepatomegaly, Lipoat... ORPHA:79084
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Primary amenorrhea, Insulin resistance, Hyperinsulinemia, Polyc... OMIM:604367
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Craniofacial hyperostosis... ORPHA:1802
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Decreased circulating follicle stimulating hormone concentration, Primary amenorrhea... OMIM:229070
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Elevated ... ORPHA:90793
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Decreased circ... OMIM:228300
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Decreased serum testosterone concentration, Decreased testicular size, Microcepha... ORPHA:163971
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resis... ORPHA:435660
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Acute pancreatitis, Loss of gluteal subcutaneous adipose tissue, Increased subcuta... OMIM:608600
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Primary amenorrhea, Insulin resistance, Hyp... OMIM:612526
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Polycystic ovaries, Hepatom... ORPHA:79085
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Micropenis, Decreased serum testos... ORPHA:261534
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Decreased serum testosterone concentration, Increased circulating gonadotropin le... OMIM:300869
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Insulin resistance, Multiple lipomas ORPHA:2398
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask de... OMIM:611497
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Hypercholesterolemia, Hypoplasia of penis, ... ORPHA:181393
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Loss of gluteal subcutaneou... ORPHA:435651
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandib... ORPHA:53697
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Flattened metatarsal heads, Sclerosis of foot bone, Thi... ORPHA:564003
Androgen Insensitivity Syndrome
Primary amenorrhea, Elevated circulating luteinizing hormone level, Inguinal hernia, Elevated cir... OMIM:300068
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... ORPHA:171706
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mel... OMIM:613877
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Lipase Deficiency, Combined
Lipodystrophy, Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis OMIM:246650
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Abnormal trabecular bone morphology, Sho... ORPHA:79106
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... ORPHA:99330
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased serum te... OMIM:614841
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Abnormality of the uterine cervix, Aplasia of the uterus, ... ORPHA:99429
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612964
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance ORPHA:140941
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Sclerosteosis
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, Diaphyseal thickeni... ORPHA:3152
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
46,Xy Sex Reversal 1
Primary amenorrhea, Elevated circulating luteinizing hormone level, Abnormality of female externa... OMIM:400044
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Eleva... ORPHA:3044
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Cryptorchidism, Hepato... OMIM:615381
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Ane Syndrome
Hypogonadotropic hypogonadism, Multiple joint contractures, Abnormal response to ACTH stimulation... ORPHA:157954
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Hypothyroidism, Hypogonadotropic hypogonadism, Infe... ORPHA:465508
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Insul... ORPHA:528
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Increased hepatic glycogen... ORPHA:293964
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hyperinsulinemia, Increased intramuscular fat, Hyperglyc... OMIM:151660
Temple Syndrome
Flexion contracture, Hypercholesterolemia, Cryptorchidism, Hypertriglyceridemia, Maturity-onset d... OMIM:616222
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Diaphyseal thickening, Generalized osteosclerosi... ORPHA:2790
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Primary amenorrhea, Cryptorchidism, Azoosperm... ORPHA:432
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Umbilical hernia, Ma... ORPHA:99886
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Primary amenorrhea, Insulin resistance, Polycystic ovaries, Dysmenorrhea, Sple... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Insulin resistance, Polycystic ovaries, Dysmenorrhe... ORPHA:2348
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance OMIM:614662
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomeg... OMIM:232700
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Autosomal Recessive Spastic Paraplegia Type 26
Hyperintensity of cerebral white matter on MRI, Premature ovarian insufficiency, Decreased serum ... ORPHA:101006
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Abnormality of epiphysis morphology, Tapered finger, Foot acroosteo... ORPHA:970
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Glycogen Storage Disease Ixa1
Hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Multiple joint contractures, Micropenis, Decreased serum testosterone concentr... ORPHA:2959
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia ORPHA:71529
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Kennedy Disease
Erectile dysfunction, Abnormal circulating lipid concentration, Testicular atrophy, Type II diabe... ORPHA:481
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Irregular menstruation, Increased C-pept... OMIM:615238
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperlipidemia, Hyperinsulinemia, Delayed puberty, Micr... ORPHA:3464
Familial Expansile Osteolysis
Thin bony cortex, Osteolysis, Bowing of the long bones, Pathologic fracture OMIM:174810
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Hepatic steatosis, Caudate atrophy, Insulin resistance, Hyperinsulinemia, Reduc... ORPHA:363400
Primary Lipodystrophy
Lipodystrophy, Menometrorrhagia, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Polycysti... ORPHA:90970
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Hyponatremia, Decreased female libido,... ORPHA:95512
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Oligospermia, Elevated circulating follicle s... OMIM:602668
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Diabetes mel... OMIM:610717
Panhypophysitis
Abnormality of the posterior pituitary, Panhypopituitarism, Hashimoto thyroiditis, Decreased seru... ORPHA:95513
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabete... ORPHA:436182
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Cryptorchidism, Hypertriglyceridemia, Adrenocortical hypoplasia OMIM:307030
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Osteopetrosis, Autosomal Dominant 1
Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosc... OMIM:607634
Seckel Syndrome 10
Glycosuria, Hepatic steatosis, Acute pancreatitis, Insulin resistance, Elevated circulating lutei... OMIM:617253
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Abnormal circulating lipid ... OMIM:615980
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Adrenocorticotropic hormone deficiency, Ovarian cyst, Oligosperm... ORPHA:91348
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Primary gonadal insufficiency, Infertility, Primary amenorrhea, Contractur... ORPHA:2232
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Polycystic ovaries, Hyperinsulinemia, ... ORPHA:79086
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618014
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Mody
Glycosuria, Exocrine pancreatic insufficiency, Neonatal hypoglycemia, Pancreatic hypoplasia, Hepa... ORPHA:552
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Hyperlipidemia, Micropenis, Decreased serum testosterone concentra... OMIM:241080
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Caffey Disease
Cortical irregularity, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular b... OMIM:114000
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618187
Hypergonadotropic Hypogonadism-Cataract Syndrome
Primary amenorrhea, Delayed puberty, Secondary growth hormone deficiency, Increased circulating g... ORPHA:2410
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Decreased adiponectin level, Diabetes mellitus, Pancreatitis, Decreased... ORPHA:280365
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Cryptorchidism, Micropenis, Microcephaly, Hy... OMIM:617575
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Polycystic ovaries, Elevated circulating growth hormone concentration, Insuli... ORPHA:90301
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Abnormal cortical bone morphology, Splenomegaly, Increased b... ORPHA:2204
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... OMIM:400045
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Abnormal prostate morphology, Recurrent hypoglycemia, Uterine neoplasm, Hypophospha... ORPHA:2126
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Central adrenal in... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Central adrenal in... ORPHA:71526
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Lipoatrophy ORPHA:79087
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Male hypogonadism, Hypogona... OMIM:240950
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Testicular Agenesis
Hypoplasia of the uterus, Absent testis, Micropenis, Decreased serum testosterone concentration, ... ORPHA:325124
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, H... OMIM:166600
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Polycystic ovaries, Cryptorchidism, Secondary amenorrhea, Type II diab... ORPHA:3085
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Increased subcutaneous truncal adipos... ORPHA:2457
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Polycystic ovaries, Abnormality ... ORPHA:1227
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasti... ORPHA:2298
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Perlman Syndrome
Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis... ORPHA:2849
Cranio-Osteoarthropathy
Joint stiffness, Deviation of finger, Arthritis, Osteoarthritis, Abnormality of tibia morphology,... ORPHA:1525
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Decreased serum testosterone concentration, Splenomegaly, Hepatomegaly, Hyp... OMIM:201100
Wolfram-Like Syndrome
Central diabetes insipidus, Primary gonadal insufficiency, Hypothyroidism, Male hypogonadism, Dia... ORPHA:411590
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Amenorrhea, Azoosper... OMIM:235200
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Absence of pube... ORPHA:785
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Hypoplasia of penis, Type II diabetes mellitus, Abno... ORPHA:791
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
47,Xyy Syndrome
Varicocele, Cryptorchidism, Increased serum testosterone level, Azoospermia, Micropenis, Oligospe... ORPHA:8
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Increased C-peptide level, Decreas... ORPHA:79644
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Hyponatremia... OMIM:300200
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Primary amenorrhea, Delayed thelarche, Dorsocervical fat pad, Microcephaly, Delayed puberty, Hype... OMIM:616033
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Abnormality of pelvic girdle bone morphology, Metacarpal diaphyseal endoste... OMIM:144750
Aromatase Deficiency
Hepatic steatosis, Primary amenorrhea, Insulin resistance, Hyperlipidemia, Cryptorchidism, Ambigu... ORPHA:91
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Type I ... ORPHA:276575
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Reduced int... OMIM:608594
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Increas... ORPHA:276580
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Decreased fertility, Hepatic steatosis, Acute pancreatitis, Reduc... OMIM:269700
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Hypoglycemia, Infertility, Amenorrhea,... ORPHA:95619
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, E... ORPHA:1772
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Long peni... OMIM:246200
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Inc... ORPHA:769
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Clinodactyly of the 5th finger, Abnormality of... ORPHA:2635
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Long penis, Insulin-... OMIM:262190
Central Precocious Puberty
Premature thelarche, Hypothalamic hamartoma, Increased circulating gonadotropin level, Isosexual ... ORPHA:759
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Fasting hypoglycemia, Neonatal hypoglycemia, Excessi... ORPHA:324575
Polyembryoma
Elevated alpha-fetoprotein, Irregular menstruation, Increased serum testosterone level, Increased... ORPHA:180229
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Gonadoblastoma
Abnormality of the ovary, Increased serum testosterone level, Ovarian gonadoblastoma, Gonadal cal... ORPHA:206484
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Upper limb undergrowth, Hypoplasia o... ORPHA:75508
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Secondary amenor... ORPHA:243
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Alstrom Syndrome
Hypothyroidism, Irregular menstruation, Hepatic steatosis, Diabetes insipidus, Hyperinsulinemia, ... OMIM:203800
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233400
Generalized Glucocorticoid Resistance Syndrome
Infertility, Hypoglycemia, Hypokalemia, Oligomenorrhea, Increased urinary cortisol level, Decreas... ORPHA:786
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Hyperostosis Frontalis Interna
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Mccune-Albright Syndrome
Irregular menstruation, Cholestasis, Abnormality of the thyroid gland, Increased circulating prol... ORPHA:562
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Recurrent fractures, Slender long bone, Abnormal cortical bone morp... ORPHA:1486
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:600081
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Adrenal insufficiency, Hypoglycemic seizures, Hyponatremia, Decreased circu... ORPHA:361
H Syndrome
Lipodystrophy, Hepatosplenomegaly, Amenorrhea, Hernia, Azoospermia, Micropenis, Diabetes mellitus... ORPHA:168569
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Omphalocele, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618419
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Neonatal hypoglycemia, Hypoglycemic seizures, Panhypopitui... OMIM:262600
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Caffey Disease
Cortical irregularity, Cortical thickening of long bone diaphyses, Calvarial hyperostosis, Perios... ORPHA:1310
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Grant Syndrome
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Decreased skull ossificat... ORPHA:2097
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Hepa... ORPHA:79237
Silver-Russell Syndrome
Insulin resistance, Cryptorchidism, Recurrent hypoglycemia, Abnormal vagina morphology, Decreased... ORPHA:813
Estrogen Resistance
Primary amenorrhea, Hyperinsulinemia, Impaired glucose tolerance, Glucose intolerance, Hypoplasia... OMIM:615363
Pituitary Gigantism
Premature pubarche, Increased serum insulin-like growth factor 1, Amenorrhea, Pituitary prolactin... ORPHA:99725
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Hyponatremia, Hyperkalemia, Decreased circulating cortisol level, Abnormality of fe... ORPHA:90790
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Bicornuate uterus, Secondary amenorrhea, Premature... OMIM:615300
Gorham-Stout Disease
Cortical irregularity, Abnormal pelvis bone morphology, Osteopenia, Abnormal bone ossification, A... ORPHA:73
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Increased C-peptide level, Excessive insulin response to glucagon test, De... ORPHA:276556
Meningioma
Focal T2 hypointense thalamic lesion, Hypogonadotropic hypogonadism, Decreased circulating follic... ORPHA:2495
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Irregular menstruation, Polycystic ovaries, Dysmenorrhea... ORPHA:370
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Irregular menstruation, Testicular adrenal rest tumor, Decreased circulating renin l... ORPHA:90795
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Microcephaly, Neonatal hyperbilirubinemia, Hypogonadism ORPHA:73272
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Diabetes Mellitus, Permanent Neonatal, 2
Reduced C-peptide level, Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... ORPHA:572333
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Panhypopituitarism, Anterior hypopituitarism, Increased circulating p... ORPHA:91351
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:300554
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Irregular menstruation, Polycystic ovaries... ORPHA:264580
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Amenorrhea, Adrenal overactivity OMIM:145295
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormality of the metaphysis, Osteopetrosis ORPHA:1522
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Irregular menstruation, Polycystic ovaries, Dysmenorr... ORPHA:79240
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Cerebral cortical atrophy OMIM:609195
Vipoma
Hypokalemia, Abnormality of the thyroid gland, Primary hyperparathyroidism, Increased circulating... ORPHA:97282
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Pancytopenia, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... OMIM:259710
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Encephalopathy, Progressive, With Or Without Lipodystrophy
Cerebral atrophy, Hepatomegaly, Hypertriglyceridemia OMIM:615924
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Insulin resistance, Cryptorchidism, Micropenis, Abnormal circulating lipid concen... OMIM:616541
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hepatic steatosis, Hepatosplenomegaly, Periventricular cysts, Hypopituitarism, Mi... OMIM:619013
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hyperinsulinemia, Sple... OMIM:613327
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Cryptorchidism, Inguinal hernia, Camptodactyly of toe, Umbilical her... OMIM:175700
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Bone Marrow Failure Syndrome 5
Microcephaly, Hypogonadism, Testicular atrophy OMIM:618165
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Premature Ovarian Failure 11
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomenorrhea OMIM:616946
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Osteopetrosis, Thrombocytopenia OMIM:615085
Somatostatinoma
Subcutaneous lipoma, Medullary thyroid carcinoma, Hypercalcemia, Abnormality of the thyroid gland... ORPHA:97283
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Abnormality of reproductive system physiolog... ORPHA:1501
Steinert Myotonic Dystrophy
Cholelithiasis, Insulin resistance, Hyperinsulinemia, Abnormality of thyroid physiology, Hypercho... ORPHA:273
Ck Syndrome
Abnormal digit morphology, Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Elevated transferr... OMIM:606069
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Recurrent fractures, Splenomegaly, Anemia, Osteopetrosis, Reticulocytosis, Th... OMIM:611490
Werner Syndrome
Lipodystrophy, Decreased fertility, Insulin resistance, Aplasia/Hypoplasia of the testes, Lipoatr... ORPHA:902
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Hepatic fibrosis OMIM:614480
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Coxa valga, Broad femoral neck, Thin bony cortex, Ove... ORPHA:85184
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatomegaly, Diabetes mell... ORPHA:2088
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia, Cirrhosis, Adre... ORPHA:75234
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Irregular menstruation, Hyperlipidemia, Abnormal libido, Increased urinary cor... ORPHA:189439
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Decreased fertility, Testicular atrophy OMIM:313200
Bardet-Biedl Syndrome 1
Insulin resistance, Micropenis, Abnormality of the ovary, Vaginal atresia, Diabetes mellitus, Bil... OMIM:209900
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypokalemia, Hypopla... OMIM:202010
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Pituitary Apoplexy
Central diabetes insipidus, Hypoglycemia, Hyponatremia, Abnormal caudate nucleus morphology, Olig... ORPHA:95613
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Hypoglycemia, Thyroid adenoma, Adenoma sebaceum, Hypercalcemia, Pituitary pr... OMIM:131100
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decrea... OMIM:607616
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:241530
Leprechaunism
Hypokalemia, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, ... ORPHA:508
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary prolactin cell ad... OMIM:102200
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Delayed puberty, Hypergonadotropic hypogonadism, Diabetes melli... OMIM:614963
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Hydrocele testis, Miscarriage, Inguinal hernia, Congenital ad... ORPHA:96181
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Reduced subcutaneous adipose tissue, Microcephaly, Diabetes ... OMIM:609069
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Hypokalemia, Euthyroid hyperthyroxinemia, Erectile dysfuncti... ORPHA:91347
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Hyponatremia, Decreased circulating androgen concentration, Rec... ORPHA:293978
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Flexion contracture, Hyperinsulinemia, Loss of facial adipose tissue, Decreased a... OMIM:608612
Proteus Syndrome
Splenomegaly, Mandibular hyperostosis, Facial hyperostosis, Thin bony cortex, Calvarial hyperostosis OMIM:176920
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
46,Xx Sex Reversal 5
Increased serum testosterone level, Urogenital sinus anomaly, Aplasia of the left hemidiaphragm, ... OMIM:618901
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 5th metacarpal, Short 4th metacarpal, Thin bony cortex, Broad thumb, Femoral bowing OMIM:619638
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:264700
Citrullinemia Type Ii
Cerebral edema, Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevate... ORPHA:247585
Dysbetalipoproteinemia
Hypothyroidism, Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Hepatomegaly, Xanthe... ORPHA:412
Prolactinoma
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Adrenocorticotropin ... ORPHA:2965
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Elevated circulat... ORPHA:158057
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Generalized osteoporosis, Recurrent fractures, Joint laxity, Joint hype... OMIM:617952
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Femur fracture, Splenomegaly, Fla... OMIM:259700
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Hypertriglyceridemia, Primary microcephaly OMIM:618010
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia OMIM:606762
Glucagonoma
Subcutaneous lipoma, Hypercalcemia, Abnormality of the thyroid gland, Primary hyperparathyroidism... ORPHA:97280
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Joint hyperflexibility, Craniofacial hyperostosis, Cone-sha... ORPHA:2484
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Irregular menstruation, Hyperlipidemia, Abnormal response to corticotropin rel... ORPHA:189427
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Ovotestis, Palmoplantar hyperhidrosis, Hypercholesterolemia, External genital hypoplasia, Hypertr... OMIM:610644
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Macroorchidism, Elevated circulating growth hormone... ORPHA:85327
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Cryptorchidism, Precocious puberty, Hyperhidrosis, Decr... ORPHA:96182
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Infertility, Amenorr... OMIM:602390
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Azoospermia, Splenomegaly, Hepatomegaly, Hypogonadism OMIM:615234
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Hyperlipidemia, Flexion contracture, Hyperinsulinemia, Increased facial adipose ti... OMIM:248370
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Recurrent pancreatitis, Increased circ... ORPHA:444490
Familial Multiple Lipomatosis
Lipodystrophy, Cerebral calcification, Hyperlipidemia, Insulin resistance, Increased adipose tiss... ORPHA:199276
Short Syndrome
Lipodystrophy, Insulin resistance, Inguinal hernia, Abnormal dental enamel morphology, Diabetes m... ORPHA:3163
Dent Disease 1
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:300009
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyce... OMIM:603552
Ppoma
Cholelithiasis, Intestinal carcinoid, Subcutaneous lipoma, Hypercalcemia, Abnormality of the thyr... ORPHA:97278
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia, Keloids OMIM:314300
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell ... ORPHA:263455
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Insulin resistance OMIM:617885
Wolfram Syndrome 1
Cerebral atrophy, Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus OMIM:222300
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hepatomegaly, Portal fibrosis, ... ORPHA:369
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema, Hepatic steatosis, Elevated plasma citrulline, Portal inflammation, Hyperarginine... OMIM:603471
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Cerebral calcification, Testicular atrophy OMIM:613987
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hyponatremia, Hypopituitarism, Increased circulating prolactin concen... ORPHA:91354
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Congenital diaphragmatic hernia, Testicular atrophy OMIM:601163
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Elevated circulating creatinine concentration, Insulin resistance, Hyperinsulinemia... ORPHA:230
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Elbow flexion contracture, Hypertriglyceridem... OMIM:616516
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatic steatosis, Portal hypertension, Hepatosplenomegaly, Periportal fib... OMIM:278000
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:277440
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Ventral hernia, Cryptorchidism, Inguinal hernia, Widened atrophic scar, Diabetes mell... ORPHA:536532
Growth Factors, Combined Defect Of
Lipodystrophy, Flexion contracture, Reduced subcutaneous adipose tissue, Insulin-resistant diabet... OMIM:233805
Mccune-Albright Syndrome
Hyperthyroidism, Elevated circulating growth hormone concentration, Increased circulating prolact... OMIM:174800
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Anemia, Osteopetrosis, Extramedullary hematopoiesis OMIM:612840
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebral atrophy, Polycystic ovaries, Insulin-resistant diabetes mellitus, Secondary amenorrhea, ... OMIM:268020
Grfoma
Intestinal carcinoid, Palmoplantar hyperhidrosis, Abnormality of the thyroid gland, Primary hyper... ORPHA:97261
Whipple Disease
Hypothyroidism, Hyponatremia, Insulin resistance, Erectile dysfunction, Splenomegaly, Hepatomegaly ORPHA:3452
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormality of the ovary, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal bone structure, Multiple bony cystic lesions, Abnormal trabecu... ORPHA:83451
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Adrenocortical carcinoma, Lipoma, Neuroendocrine neoplasm, ... ORPHA:913
Robinow Syndrome
Hypoplastic labia majora, Small scrotum, Cryptorchidism, Micropenis, Clitoral hypoplasia, Decreas... ORPHA:97360
Bloom Syndrome
Insulin resistance, Azoospermia, Adipose tissue loss, Oligospermia, Male infertility, Diabetes me... ORPHA:125
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cryptorchidism, Hypoplastic labia minora, Decreased serum testosterone concentration, Absent scro... ORPHA:495875
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Di... ORPHA:300385
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Hepatitis, Hypertriglyc... OMIM:300635
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Ovarian carcinom... ORPHA:1359
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Hypoglycemia, Hypoglycemic seizures, Irregular menstruation, Polycystic ovaries, ... ORPHA:79259
X-Linked Intellectual Disability, Snyder Type
Cerebral edema, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy, Megalencepha... ORPHA:3063
Monosomy 13Q34
Hepatic steatosis, Insulin resistance, Agenesis of corpus callosum, Infantile hypercalcemia, Micr... ORPHA:96168
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Cerebral hypoplasia, Insulin-resistant diabetes mellitus OMIM:210740
Atypical Werner Syndrome
Glycosuria, Chondrocalcinosis, Diabetes mellitus, Premature ovarian insufficiency, Hyperinsulinem... ORPHA:79474
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Leukoencephalopathy With Vanishing White Matter
Primary gonadal insufficiency, Primary amenorrhea, Secondary amenorrhea, Cessation of head growth... OMIM:603896
Proteasome-Associated Autoinflammatory Syndrome 1
Lipodystrophy, Irregular menstruation, Flexion contracture, Loss of facial adipose tissue, Elbow ... OMIM:256040
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... OMIM:260370
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Calcinosis, Delayed puberty ORPHA:90154
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Elevated circulating creatinine concentration, Decreased circulating apolipop... ORPHA:85450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Neonatal ... OMIM:619418
Myotonic Dystrophy 1
Cholelithiasis, Cerebral atrophy, Hypogonadism, Testicular atrophy OMIM:160900
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia OMIM:177000
Lipodystrophy, Familial Partial, Type 7
Lipodystrophy, Insulin resistance, Recurrent pancreatitis, Hypercholesterolemia, Decreased adipos... OMIM:606721
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Ovarian cyst, Enlarged polycystic o... ORPHA:64739
Renal Cysts And Diabetes Syndrome
Glycosuria, Epididymal cyst, Hypoplasia of the uterus, Exocrine pancreatic insufficiency, Elevate... OMIM:137920
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, Type II d... OMIM:618620
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Microcephaly, Oligospermia, Diabetes mellitus, Breast hypoplasia OMIM:614813
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Biliary atresia, Hyperbilirubinemia, Acho... OMIM:615710
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Agenesis of ... ORPHA:261476
Diarrhea 10, Protein-Losing Enteropathy Type
Hypothyroidism, Hyponatremia, Cryptorchidism, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia... OMIM:618183
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Sparse bone trabeculae, Tibial bowing, Increased susceptibility to fractures, Osteoma... ORPHA:289157
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Intrahepatic cholestasis, H... OMIM:605814
Alg6-Cdg
Puberty and gonadal disorders, Abnormality of the liver, Jaundice, Increased circulating androgen... ORPHA:79320
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, H... OMIM:232400
Non-Acquired Panhypopituitarism
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Hypoglycemia, Infertility, Delay... ORPHA:90695
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly OMIM:613101
Gangliocytoma
Adrenocorticotropic hormone excess, Decreased female libido, Pituitary null cell adenoma, Amenorr... ORPHA:251937
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Breast aplasia, Insulin resistance, Hyperlipidemia ORPHA:90153
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Smith-Magenis Syndrome
Hypothyroidism, Hypercholesterolemia, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Pr... ORPHA:819
Gitelman Syndrome
Cerebral calcification, Diabetic ketoacidosis, Hypokalemia, Hypermagnesemia, Type I diabetes mell... ORPHA:358
Short Syndrome
Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Inguinal hernia, Glucose intoler... OMIM:269880
Placental Insufficiency
Insulin resistance, Miscarriage ORPHA:439167
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Tenorio Syndrome
Cavum septum pellucidum, Hypoglycemia, Cerebral cortical atrophy, Hypoinsulinemia OMIM:616260
Alström Syndrome
Hyoplasia of the Leydig cells, Irregular menstruation, Decreased fertility in males, Decreased ci... ORPHA:64
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Increased bone mineral density, Abnormal trabecul... ORPHA:289176
Neutral Lipid Storage Myopathy
Hepatic steatosis, Pineal cyst, Cholecystitis, Hepatomegaly, Chronic pancreatitis, Diabetes melli... ORPHA:98908
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency, Increase... OMIM:110100
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic steatosis, Flexion contracture, Progressive microcephaly, Shawl scrotum, ... OMIM:616263
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Obesity
Decreased resting energy expenditure OMIM:601665
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Cerebral dysmyelination, Hypogonadotropic hypogonadism, Primary amenorrhea, Contracture of the pr... ORPHA:293967
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Osteopetrosis, Extramedul... OMIM:259730
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Reduced C-peptide level, Elevated hemoglobin A1c, Hyperglycemia, Type I di... OMIM:618858
Sheehan Syndrome
Hypoglycemia, Panhypopituitarism, Hashimoto thyroiditis, Central adrenal insufficiency, Decreased... ORPHA:91355
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Large iliac wing, Facial hyperostosis, Abnormality of the metaphy... ORPHA:2780
Diabetes Mellitus, Permanent Neonatal, 1
Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, Hyperglycemia, Type I diabet... OMIM:606176
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Pachydermoperiostosis
Genu varum, Abnormality of epiphysis morphology, Arthritis, Limitation of joint mobility, Osteopo... ORPHA:2796
Methanol Poisoning
Abnormal corpus callosum morphology, Hyperlipidemia, Abnormal caudate nucleus morphology, Abnorma... ORPHA:31825
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:2235
Nelson Syndrome
Adrenocorticotropic hormone excess, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Di... ORPHA:199244
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
Lead Poisoning
Infertility, Abnormal sperm morphology, Decreased female libido, Decreased circulating osteocalci... ORPHA:330015
Fibrous Dysplasia Of Bone
Bowing of the long bones, Cortical irregularity, Abnormality of the ulna, Abnormal pelvis bone mo... ORPHA:249
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Small scro... OMIM:176270
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hypoalbuminemia, Cirrhosis, Hepatic fibrosis, Hyperinsulinemic hypoglycemia OMIM:602579
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Arthrogryposis m... ORPHA:99885
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Hypopituitarism, Elevated circulating growth hormon... OMIM:300942
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hypercholesterolemia, Hypopituitarism, Hyperglycemia, Ischemic stroke ORPHA:90065
Gapo Syndrome
Amenorrhea, Dysmenorrhea, Oligospermia, Umbilical hernia, Hypogonadism ORPHA:2067
Short Stature, Dauber-Argente Type
Microcephaly, Fasting hyperinsulinemia OMIM:619489
Mpi-Cdg
Hypothyroidism, Portal hypertension, Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hyperinsuli... ORPHA:79319
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Pancytopenia, Leukocytosis, Increased bone mineral density, Decreased osteo... OMIM:259720
Marbach-Rustad Progeroid Syndrome
Hyperintensity of cerebral white matter on MRI, Microcephaly, Insulin resistance, Reduced subcuta... OMIM:619322
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Osteopetrosis OMIM:618476
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Diabetes mellitus, Pancreatitis, Pan... OMIM:167800
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98855
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Diethylstilbestrol Syndrome
Decreased fertility in females, Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the u... ORPHA:1916
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Pituitary corticotropic cell adenoma, Abnormal circulating aldosterone, Pul... ORPHA:652
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Agenesis of corpus callosum, Cryptorchidism, Increased serum testosterone le... OMIM:264090
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:226307
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Tropical Pancreatitis
Jaundice, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreatic adenocarcinoma, A... ORPHA:103918
X-Linked Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98853
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Hypoglycemia, Infertility, Delay... ORPHA:95494
Stüve-Wiedemann Syndrome
Bowing of the long bones, Osteopenia, Flexion contracture, Recurrent fractures, Thickened cortex ... ORPHA:3206
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatic steatosis, Increased C-peptide level, Decre... ORPHA:71212
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Splenomegaly, Hepato... OMIM:267700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Increased circulating ferritin concentration, Hypertriglyceridemia, Hyp... OMIM:619313
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Clinodactyly of the 5th finger, Aplastic clavicle, Increased susceptibility ... ORPHA:2769
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Sp... OMIM:615947
19P13.12 Microdeletion Syndrome
Hypothyroidism, Hepatic steatosis, Hyperlipidemia, Cryptorchidism, Microcephaly, Precocious puber... ORPHA:254346
Aceruloplasminemia
Increased circulating ferritin concentration, Abnormal corpus striatum morphology, Decreased seru... ORPHA:48818
Dent Disease
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... ORPHA:1652
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hypothyroidism, Papillary cystadenoma of the epididy... ORPHA:93111
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Cryptorchidism, Increased serum estradiol, Increas... ORPHA:3455
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Elbow flexion contracture, Azoospermia, Micropenis, Pancreatic hypoplasia, Sp... OMIM:602782
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Panniculitis, Splenomegaly, Hypertriglyceridemia OMIM:618398
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Matthew-Wood Syndrome
Cryptorchidism, Abnormal spleen morphology, Abnormality of the uterus, Congenital diaphragmatic h... ORPHA:2470
Bardet-Biedl Syndrome 9
Hyperglycemia, Irregular menstruation OMIM:615986
Gaisböck Syndrome
Increased circulating renin level, Hypercholesterolemia, Cholecystitis, Hyperuricemia, Diabetes m... ORPHA:90041
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Flexion contracture, Splenomegaly, Hepatomegaly, Panniculitis, Hypertriglyceridemia OMIM:617591
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Hypoparathyroidism ORPHA:369837
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Peritonitis, Abnormal circulating lipid concentration, Hypoalbuminemia, Hyp... ORPHA:567548
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Increased circulating ferritin concentration, Abnormality ... ORPHA:300298
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Abnormal circulating serine concentration, Hepatosp... ORPHA:470
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hyperga... ORPHA:247598
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaundice, Cholestatic l... ORPHA:540
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Adrenocortical adenoma, Postprandial hyper... ORPHA:681
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger sy... ORPHA:2658
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Abnormal cortical bone morphology OMIM:614886
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Hashimoto thyroiditis, Parathyroid adenoma, Elevated circulating growth hormone c... OMIM:610755
Turner Syndrome Due To Structural X Chromosome Anomalies
Biliary cirrhosis, Primary amenorrhea, Hashimoto thyroiditis, Premature ovarian insufficiency, Hy... ORPHA:99413
Turner Syndrome
Biliary cirrhosis, Primary amenorrhea, Hashimoto thyroiditis, Premature ovarian insufficiency, Hy... ORPHA:881
Mosaic Monosomy X
Biliary cirrhosis, Primary amenorrhea, Hashimoto thyroiditis, Premature ovarian insufficiency, Hy... ORPHA:99228
Monosomy X
Biliary cirrhosis, Primary amenorrhea, Hashimoto thyroiditis, Premature ovarian insufficiency, Hy... ORPHA:99226
Rothmund-Thomson Syndrome Type 2
Genu varum, Finger symphalangism, Osteopenia, Abnormal trabecular bone morphology, Leukemia, Meta... ORPHA:221016
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Bili... ORPHA:1414