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Gene: Bglap2 MGI:88157

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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

Order Alleles

IMPC Data Collections

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

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.

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
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Oligozoospermi... OMIM:615703
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... ORPHA:79084
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decr... ORPHA:453533
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genitalia, female, Ambiguo... ORPHA:90791
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc... OMIM:612526
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology, Hepatomegaly ORPHA:2398
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... ORPHA:53697
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Androgen Insensitivity Syndrome
Inguinal hernia, Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina... OMIM:300068
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Eiken Syndrome
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnorm... ORPHA:79106
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hyp... OMIM:615381
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Neonatal hypoglycemia, Sex reversal, Am... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Neonatal hypogly... ORPHA:289548
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... ORPHA:157954
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... OMIM:151660
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... ORPHA:528
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... ORPHA:2790
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Dysme... ORPHA:79083
Premature Ovarian Failure 14
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... OMIM:618014
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Dys... ORPHA:2348
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... ORPHA:970
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Increased... OMIM:232700
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue ORPHA:71529
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Aarskog-Scott Syndrome
Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto... OMIM:305400
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... ORPHA:481
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase conce... OMIM:610717
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating ... ORPHA:95512
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... ORPHA:3464
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Secondary amenorrhea, Elevated circulating follic... OMIM:619938
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Premature ovarian insuffici... ORPHA:2959
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... OMIM:615980
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, F... OMIM:616222
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... ORPHA:436182
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Caffey Disease
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... OMIM:114000
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... ORPHA:79086
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Isolated Splenogonadal Fusion
Abnormal penis morphology, Inguinal hernia, Unilateral cryptorchidism, Elevated circulating alpha... ORPHA:457083
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal limb bo... ORPHA:2204
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Dysmenorrhea, Increased intraabdominal fat, Hepatic stea... ORPHA:280365
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... OMIM:619795
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Lipoatrophy ORPHA:79087
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal panc... ORPHA:2849
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... OMIM:166600
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... ORPHA:3085
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Vaginal neoplasm, Reduced C-peptide level, Neoplasm... ORPHA:2126
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... ORPHA:361
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... OMIM:240950
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Reduced bone mineral density, Limited e... OMIM:265900
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Wolfram-Like Syndrome
Diabetes mellitus, Glucose intolerance, Primary gonadal insufficiency, Delayed puberty, Male hypo... ORPHA:411590
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve... ORPHA:562
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased serum testosterone conc... OMIM:201100
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypoalbu... OMIM:617575
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy... OMIM:606762
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... ORPHA:2298
Cranio-Osteoarthropathy
Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger... ORPHA:1525
Polyembryoma
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Isosexual precoc... ORPHA:180229
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Atypical scarring of skin, Hypogonadism, Type II diabetes ... ORPHA:791
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Prima... OMIM:600955
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulati... OMIM:235200
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodys... OMIM:608594
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulat... ORPHA:276575
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... ORPHA:276580
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Acute pancreatitis, Lipodystrophy, Reduced int... OMIM:269700
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Halberd-shaped pelvis... ORPHA:2635
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose tolerance, Precocious pub... ORPHA:769
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Insulin resistance, Flexion contracture, Elbow flexion contracture, Knee flexion ... OMIM:214150
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst,... OMIM:246200
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of the young, Reac... ORPHA:324575
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Primary amenorrhea, Delayed thelarche, Hyperinsulinemic... OMIM:616033
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Oligozoospermia, Hypogonadism, Type II diabet... OMIM:602668
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... OMIM:262190
Alstrom Syndrome
Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea... OMIM:203800
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Short Syndrome
Inguinal hernia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Absence of subc... OMIM:269880
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Perrault Syndrome 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233400
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog... ORPHA:1486
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... ORPHA:276608
Werner Syndrome
Lipodystrophy, Lipoatrophy, Insulin resistance, Decreased fertility, Secondary amenorrhea, Ovaria... ORPHA:902
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Ele... ORPHA:79230
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Grant Syndrome
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... ORPHA:2097
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, H... ORPHA:90790
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Insulin ... ORPHA:813
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
H Syndrome
Diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Delayed puberty, Hepatosplenomegaly, Azoo... ORPHA:168569
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Glucocorticoid Resistance, Generalized
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... OMIM:615962
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Decreased cir... ORPHA:276556
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Gorham-Stout Disease
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... ORPHA:73
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture OMIM:618856
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... OMIM:611490
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosi... OMIM:613027
Galactokinase Deficiency
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Hype... ORPHA:79237
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... ORPHA:99725
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis ORPHA:1522
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy... ORPHA:2495
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt... ORPHA:300373
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia OMIM:620366
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperpl... ORPHA:96181
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300554
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia ORPHA:329249
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Hypospadias, Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Hyperglycem... OMIM:175700
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Dysmenorrhea, Elevated circulating creatine kin... ORPHA:264580
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Cryptorchidism, Insulin resistance, Micropenis, Abnormal circ... OMIM:616541
Ck Syndrome
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility OMIM:300831
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentrat... ORPHA:79240
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypogonadism, Neonatal hyperbilirubinemia, Hypoglycemia ORPHA:73272
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancrea... OMIM:307030
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genita... ORPHA:90794
Myoectodermal Gonadal Dysgenesis Syndrome
Omphalocele, Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplasia of the ... OMIM:618419
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopituitarism, Hy... OMIM:619013
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating... ORPHA:314478
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentra... OMIM:613327
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Increa... OMIM:607616
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... ORPHA:97282
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Hypophosphatem... ORPHA:2088
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Subcutaneous lipoma, Hypercalcemia, El... ORPHA:97283
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Increased resting energy expenditure ORPHA:369873
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metacarpal OMIM:619638
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:241530
Proteus Syndrome
Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex OMIM:176920
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... ORPHA:293964
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... OMIM:201810
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Overgrowth of external genit... ORPHA:508
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia OMIM:615085
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Palmoplantar hyperhidr... OMIM:610644
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Diabetes mellitus, Hepatomegaly, Decreased HDL cholesterol... ORPHA:412
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,... OMIM:617952
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
46,Xx Sex Reversal 5
Ambiguous genitalia, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Increased serum... OMIM:618901
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Hypoglycem... OMIM:616113
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi... ORPHA:2484
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Craniosynostosis, Th... OMIM:259700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... ORPHA:158057
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch... ORPHA:96182
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... OMIM:209900
Werner Syndrome
Diabetes mellitus, Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:277700
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hyperammonemia, Hyperinsulinemic hy... ORPHA:35878
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Carney Complex
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, ... ORPHA:1359
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... OMIM:609812
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Portal fibrosis, Hepatic fi... ORPHA:369
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... OMIM:603552
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:264700
Dent Disease 1
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300009
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:277440
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Testicular atrophy, Congenital diaphragmatic hernia OMIM:601163
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:248370
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Hyperhidrosis, Gly... ORPHA:263455
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... OMIM:618183
Cholesteryl Ester Storage Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcificatio... OMIM:278000
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, He... OMIM:603471
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... ORPHA:536532
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Subcutaneous lipoma, Hypercalcemia, El... ORPHA:97280
Whipple Disease
Hyponatremia, Hepatomegaly, Splenomegaly, Insulin resistance, Erectile dysfunction, Hypothyroidism ORPHA:3452
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosple... ORPHA:444490
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia OMIM:612840
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... OMIM:618620
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia OMIM:620195
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Robinow Syndrome
Decreased serum testosterone concentration, Small scrotum, External genital hypoplasia, Cryptorch... ORPHA:97360
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:619737
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Cryptorchidism, Abnormality of the Leydig cells, Camptodactyly, Testicular atrophy ORPHA:3063
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level,... ORPHA:293978
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue ORPHA:199276
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ... ORPHA:97278
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D... ORPHA:495875
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirub... OMIM:615710
Atypical Werner Syndrome
Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Premature ovarian insufficiency, Abno... ORPHA:79474
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hepatocellular carcinoma, Hy... ORPHA:79259
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Diabetes mellitus, Adipose tissue loss, Insuli... ORPHA:125
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesicular hepatic steato... OMIM:619418
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Keloids, Cryptorchidism, Oligozoospermia OMIM:314300
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Grfoma
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... ORPHA:97261
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg... OMIM:609069
Monosomy 13Q34
Hepatic steatosis, Insulin resistance, Metrorrhagia, Hypercalcemia ORPHA:96168
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycy... OMIM:268020
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Lead Poisoning
Decreased HDL cholesterol concentration, Decreased female libido, Abnormality of the menstrual cy... ORPHA:330015
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlipidemia, H... OMIM:232400
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Lipodystrophy, Campt... OMIM:256040
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia OMIM:177000
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... OMIM:259600
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Decreased HDL cholesterol concentration, Primary testicular failu... ORPHA:85450
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Alg6-Cdg
Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Increased circu... ORPHA:79320
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Smith-Magenis Syndrome
Hypertriglyceridemia, Precocious puberty, Delayed puberty, Hypercholesterolemia, Hypothyroidism ORPHA:819
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture, Breast aplasia ORPHA:90153
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... OMIM:610582
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia OMIM:614813
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly OMIM:613101
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Essential Fructosuria
Hyperglycemia ORPHA:2056
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... ORPHA:261476
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Obesity
Decreased resting energy expenditure OMIM:601665
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Hypomagnesemia, Insulin resistance, Hypermagnesemia,... ORPHA:358
Neutral Lipid Storage Myopathy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pancreatitis, Pineal cyst, Abnorma... ORPHA:98908
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturity-onset diabetes of the young,... OMIM:137920
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, High iliac wing, Osteopetrosis, Large iliac wing, Facial hyperost... ORPHA:2780
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Neonatal hyperbilirubinemia, D... ORPHA:90674
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Pachydermoperiostosis
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, ... ORPHA:2796
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Insulin-resistant diabetes mellitus, Primary ameno... ORPHA:293967
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Placental Insufficiency
Insulin resistance ORPHA:439167
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... ORPHA:249
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis OMIM:617306
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cirrhosis OMIM:613987
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia, Hyperinsulinemic hypoglycem... ORPHA:79319
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... OMIM:605814
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98855
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
Prader-Willi Syndrome
Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:176270
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Hypoplasi... OMIM:619313
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Pancreatic aplasia, Pancre... OMIM:260370
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis OMIM:618541
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98863
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Lower-limb joint contracture, Glycosuria, Arthrogry... ORPHA:99885
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98853
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatitis, Pancreatic pseudocyst, Steatorrhea, Pancreatic calcification, Ex... OMIM:167800
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contract... OMIM:616263
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spl... ORPHA:2470
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, Arthrogryposi... ORPHA:254346
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Aplas... ORPHA:2769
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Camptodactyly of finger, Rec... ORPHA:3206
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Gapo Syndrome
Dysmenorrhea, Oligozoospermia, Hypogonadism, Umbilical hernia, Amenorrhea ORPHA:2067
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Del... ORPHA:1652
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Panniculitis, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Aceruloplasminemia
Diabetes mellitus, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... ORPHA:48818
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia... ORPHA:93111
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... OMIM:259720
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... OMIM:618476
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Hyperproteinemia, Increased circulating re... ORPHA:90041
Bardet-Biedl Syndrome 9
Hyperglycemia, Irregular menstruation OMIM:615986
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hyperthyroidism, Hypospadias, Hypogonadotropic hypogonadism,... ORPHA:3455
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Panniculitis OMIM:617591
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... ORPHA:2658
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Coxa valga, Splenomegaly, Sea-blue histiocytosis, Thin bony cortex OMIM:230600
Lysinuric Protein Intolerance
Hyperalaninemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyp... ORPHA:470
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Pancreatitis, Hyperlipidemia, Xant... OMIM:232220
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Generalized joint laxity, Tibial... OMIM:613848
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal... ORPHA:1414
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Aplasia/hypop... ORPHA:221016
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin... ORPHA:681
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia ORPHA:3240
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Aplastic anemia, Aplasia... ORPHA:2909
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... ORPHA:540
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Steatorrhea, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyperinsulinemic hypogly... OMIM:602579
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Osteopetrosis, Anemia OMIM:612301
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating f... OMIM:603553
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... ORPHA:2710
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Abnormal cortical bone morphology OMIM:614886
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Pmm2-Cdg
Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g... ORPHA:79318
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration OMIM:608747
Chylomicron Retention Disease
Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea, Increased hepatocellular lipid droplets, ... ORPHA:71
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Metaphyseal s... ORPHA:221008
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Xanthelasma, Hyperuricemia, Fasting ... OMIM:232200
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor... ORPHA:363618
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... ORPHA:440713
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99226
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexion contracture, Generalized lip... OMIM:619127
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N... OMIM:214900
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Hypospadias, Lipoatrophy, Cryptorchidi... OMIM:264090
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased serum insulin-like growth factor 1, Decreased HDL cholesterol concentrati... ORPHA:77293
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly OMIM:619802
Bronchial Neuroendocrine Tumor
Hepatomegaly, Elevated circulating growth hormone concentration, Increased circulating ACTH level... ORPHA:97287
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Hypersplenism, Microvesicular hepatic ... ORPHA:275761
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Faciocardiomelic Syndrome
Osteopenia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex OMIM:612731
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Frank-Ter Haar Syndrome
Osteopenia, Bowing of the long bones, Metatarsus adductus, Wide anterior fontanel, Osteoporosis, ... OMIM:249420
Necrotizing Enterocolitis
Hyponatremia, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Intrahepatic cholestasis, Hypoph... OMIM:227810
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Cln3 Disease
Increased circulating androgen concentration ORPHA:228346
Lesch-Nyhan Syndrome
Testicular atrophy, Hyperuricemia OMIM:300322
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone miner... ORPHA:667
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Hyp... ORPHA:740
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnormal circulating creatine kinase ... ORPHA:98907
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Long ha... OMIM:309583
Weill-Marchesani Syndrome 1
Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad metacarpals, Broad metatars... OMIM:277600
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Biliary ... OMIM:600001
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Osteogenesis Imperfecta
Osteopenia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal femur morpho... ORPHA:666
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperuricemia, Hyperglycemia ORPHA:134
Desmosterolosis
Metatarsus adductus, Splenomegaly, Increased bone mineral density, Osteopetrosis ORPHA:35107
Alagille Syndrome 1
Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepatic bile ... OMIM:118450
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Adrenocortical cytomegaly, Hypoglycemia, Congenital d... ORPHA:116
Spondyloocular Syndrome
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Thin bony co... OMIM:605822
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... ORPHA:565612
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... OMIM:619727
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hypera... ORPHA:3008
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration ORPHA:2976
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Hyperammonemia OMIM:615453
Igg4-Related Submandibular Gland Disease
Cholangitis, Abnormality of the thyroid gland, Retroperitoneal fibrosis, Prostatitis, Enlarged la... ORPHA:449432
Weill-Marchesani Syndrome 2
Short metacarpal, Thin bony cortex, Joint stiffness, Short metatarsal, Elbow flexion contracture,... OMIM:608328
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Liver Disease, Severe Congenital
Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He... OMIM:619991
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hep... OMIM:232240
Scorpion Envenomation
Acute pancreatitis, Increased circulating NT-proBNP concentration, Hyperhidrosis, Glycosuria, Hyp... ORPHA:466677
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... ORPHA:167
Aapoaiv Amyloidosis
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration ORPHA:439232
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:228308
Tetrasomy 9P
Absent gallbladder, Abnormal dental enamel morphology, Cryptorchidism, Jaundice, Biliary atresia,... ORPHA:3310
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... ORPHA:158048
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia OMIM:256300
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Jaundi... OMIM:619573
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Hyperlipidemia, Abnormality of thyroid physiology ORPHA:1830
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Conjugated hyperb... ORPHA:567983
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Hyperglycemia, Hypospadias, Decreased response to growth hormone stimulation test ORPHA:444077
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Jaundice, Hyperlipidemia ORPHA:79477
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Anemia, Leukopenia, Elliptocytosis, Osteopetrosis, Thrombocyto... ORPHA:2785
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Perip... OMIM:124000
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypospadias, Hypoglycemia, Microvesicular hepatic steatosis, Hyperammonemia, Hyp... OMIM:220111
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Limb joint contracture, Decreased resting energy expenditure, Nodular regenerative ... ORPHA:404454
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly ORPHA:31150
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Rickets, Reduced bone mineral density, Anemia, Thin bony ... OMIM:613658
Aspartylglucosaminuria
Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Abnormal cortical bone mor... ORPHA:93
Congenital Analbuminemia
Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, H... ORPHA:86816
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Menorrhagia, Hyperuricemia ORPHA:35909
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis ORPHA:391665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Bglap2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bglap2.

No publications found that use IMPC mice or data for Bglap2.

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