Gene Summary

Name:
BSCL2 lipid droplet biogenesis associated, seipin
Synonyms:
Gng3lg,  seipin

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating HDL cholesterol level Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 5.49×10-13
increased circulating serum albumin level Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating glucose level Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 1.73×10-08
increased mean corpuscular volume Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 1.28×10-35
increased neutrophil cell number Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 2.45×10-05
increased circulating total protein level Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating alkaline phosphatase level Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating calcium level Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased food intake Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 4.40×10-07
decreased bone mineral content Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 5.65×10-05
increased fasting circulating glucose level Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 2.44×10-14
decreased total body fat amount Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 1.17×10-11
increased cornea thickness Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 8.21×10-08
increased circulating phosphate level Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 3.07×10-08
decreased erythrocyte cell number Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 7.98×10-05
decreased respiratory quotient Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 7.94×10-09
short tibia Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 1.20×10-11
decreased locomotor activity Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 1.82×10-10
abnormal gait Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 1.29×10-09
increased lean body mass Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal bone structure Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 1.55×10-09
decreased body length Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 9.11×10-08
increased large unstained cell number Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 1.03×10-06
increased circulating aspartate transaminase level Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 2.24×10-18
increased circulating alanine transaminase level Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 1.09×10-39
increased monocyte cell number Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 2.52×10-05
increased mean corpuscular hemoglobin Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 5.44×10-13
decreased prepulse inhibition Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 8.79×10-09
increased circulating cholesterol level Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased total retina thickness Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 1.38×10-05
increased fluid intake Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 2.13×10-23
improved glucose tolerance Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 9.52×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

23 Images

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

MicroCT E18.5

Embryo reconstruction

4 Images

Human diseases caused by Bscl2 mutations

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

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

The table below shows human diseases associated to Bscl2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Generalized Lipodystrophy
Insulin resistance, Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external g... ORPHA:528
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Hyperinsulinemia, Decreased fertility, Type II diabetes mellitus, Reduced s... OMIM:269700
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Distal Hereditary Motor Neuropathy Type 5
Pes cavus, Distal lower limb muscle weakness, Pes valgus, Unsteady gait, Hammertoe ORPHA:139536
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Difficulty walking, Pes cavus, Distal lower limb muscle weakness OMIM:619112
Autosomal Dominant Spastic Paraplegia Type 17
Spastic gait, Pes planus, Abnormality of the foot musculature, Split hand ORPHA:100998
Spastic Paraplegia 17, Autosomal Dominant
Spastic gait, Pes cavus, Split hand OMIM:270685

The table below shows human diseases predicted to be associated to Bscl2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Po... ORPHA:280356
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hirsutism, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol con... OMIM:604367
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal la... ORPHA:435660
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Oligom... OMIM:613877
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Irregular menstruation, Hepatic steatosis, Lipodystrophy, Hypertrigl... OMIM:615238
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased adi... OMIM:608600
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, C... OMIM:615381
Congenital Generalized Lipodystrophy
Insulin resistance, Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external g... ORPHA:528
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Azoospermia, Increased LDL cholesterol concentration, Type II diabetes mellit... OMIM:615703
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Dysmenorrhea... ORPHA:2348
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71526
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Hyperglycemia, Hyp... OMIM:151660
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus, Lipodystrophy, Hypertriglyceridemia OMIM:246650
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Premature graying of hair, Reduced subcutaneous adipose... ORPHA:280365
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Generalized hirsutism, Insulin-resistant diabetes mellitus, Loss of facial ad... ORPHA:79083
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... OMIM:608709
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insu... ORPHA:324575
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, P... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Hyperinsulinemia, Decreased fertility, Type II diabetes mellitus, Reduced s... OMIM:269700
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Transient Neonatal Diabetes Mellitus
Macroglossia, Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hypergly... ORPHA:99886
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Failure to thrive, Hepatos... OMIM:619858
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Generalized hirsutism, Lymphocytosis, Lipoatrophy ORPHA:79087
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T ... ORPHA:158048
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276575
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Excess... ORPHA:276556
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
H Syndrome
Alopecia, Histiocytosis, Hypertrichosis, Hypogonadism, Decreased testicular size, Azoospermia, He... ORPHA:168569
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276580
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... OMIM:613327
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Low anterior hairline, Delayed puberty, Hyperinsulinemi... OMIM:616033
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... ORPHA:71212
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypertrichosis, Hypog... ORPHA:2905
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:248370
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Abnormal circulating lipid concentration, Reduced subcutaneous adipose ... ORPHA:1979
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hyperinsulinemia, Hepatosplenomegaly, Hyperch... ORPHA:79237
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia OMIM:619175
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Ddost-Cdg
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Failure to thri... ORPHA:300536
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Decre... OMIM:608612
Cimdag Syndrome
Cholelithiasis, Polymicrogyria, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, He... OMIM:619273
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Splenomegaly, Weight loss, Anemia, Hyp... ORPHA:29073
Pseudohypoparathyroidism, Type Ia
Cataract, Hyperphosphatemia, Short toe, Short finger, Hypocalcemic tetany, Obesity, Subcutaneous ... OMIM:103580
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Clitoral hypertrophy, Long peni... OMIM:246200
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Hypocalcemia, Brachydactyly, Cone... OMIM:618618
Hypophosphatasia
Failure to thrive in infancy, Abnormal metaphysis morphology, Bowing of the long bones, Anemia, C... ORPHA:436
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Inguinal hernia, Male infertility, Decreased cirrculating antimullerian... OMIM:261550
Hypophosphatasia, Infantile
Unossified vertebral bodies, Metaphyseal cupping, Micromelia, Failure to thrive, Elevated plasma ... OMIM:241500
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, ... ORPHA:3085
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Femoral hernia, Inguinal hernia, Cryptorchidism, ... ORPHA:2849
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Clinodactyly, Failure to thrive, Pancytopenia, Macrocytic anem... ORPHA:2169
Pseudohypoparathyroidism, Type Ic
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia, Brach... OMIM:612462
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Villous atrophy, Splenomegaly, ... OMIM:608776
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Ruijs-Aalfs Syndrome
Premature graying of hair, Hypogonadism, Elbow flexion contracture, Lipodystrophy, Sparse hair, H... OMIM:616200
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Flexion contracture, Reduced C-peptide level OMIM:618856
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Werner Syndrome
Insulin resistance, Abnormal hair whorl, Chondrocalcinosis, Premature graying of hair, Hypogonadi... ORPHA:902
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Diabetes mellitus OMIM:608320
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia, Increased body wei... ORPHA:94086
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 concentration, Hypercholesterolemia, Second... OMIM:301033
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened... OMIM:127000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Fa... OMIM:617872
Pseudohypoparathyroidism Type 1B
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hyp... ORPHA:94089
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Pressure-Induced Localized Lipoatrophy
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy ORPHA:90160
Fibular Hemimelia
Toe syndactyly, Short tibia, Limited knee flexion/extension, Finger syndactyly, Difficulty walkin... ORPHA:93323
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Failure to thrive, Retinopathy, Hyperuricemia, Angioid streaks of ... OMIM:239000
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Abnormal tricuspid valve morphology, Lipodystrophy, Functiona... ORPHA:199276
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Anemia, Cir... OMIM:606069
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Bardet-Biedl Syndrome 9
Cataract, Postaxial foot polydactyly, Polydipsia, Hyperglycemia, Obesity, Attenuation of retinal ... OMIM:615986
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Progressive loss of facial adipose tissue, Lipodystrophy, Loss of facial adipose tissue, Loss of ... OMIM:613913
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atypical scarring of skin, Sparse eyebrow, Atrophic scars, Cryptorchidism, Sparse eyelashes, Lipo... ORPHA:75496
Aredyld Syndrome
Type I diabetes mellitus, Sparse body hair, Abnormal dental enamel morphology, Type II diabetes m... ORPHA:1133
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Alopecia of scalp, Cryptorchidism, Low posterior hairline, Abnormal ha... ORPHA:2617
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Macrocytic anemia, ... ORPHA:199299
Temple Syndrome
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Obesity, High palate, Hype... OMIM:616222
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Pes cavus, Distal lower limb muscle weakness, Steppage gait, Hypercholesterolemi... ORPHA:94124
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Polyphagia, Calcinosis, Short metacarpal, Choreoathetosis, Cataract, Broad dis... ORPHA:79443
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Leprechaunism
Facial hypertrichosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Decreased body weig... ORPHA:508
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia, Coxa valga OMIM:191420
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Cataract, Broad distal phalanx of the thumb, Ectopic ossification, Hyperp... ORPHA:79444
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Cirrhosis, Weight loss, Hepatomegaly, Hypogonadotropic hypogonadism, Chronic hepat... ORPHA:465508
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia, Bone cyst ORPHA:2668
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resista... OMIM:262190
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... OMIM:222100
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Cystinosis
Type I diabetes mellitus, Polydipsia, Rickets, Failure to thrive, Retinopathy, Hypokalemia, Hypop... ORPHA:213
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Sparse hair, Li... ORPHA:1818
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Obesity, Hypocalcemia, Brachydactyly, Short metacarpal OMIM:603233
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Clinodactyly of the 5th finger, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
Shwachman-Diamond Syndrome
Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo... ORPHA:811
Homozygous 11P15-P14 Deletion Syndrome
Abnormal intestine morphology, Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Monocyto... OMIM:619644
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Autoimmune Hypoparathyroidism
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Conjunctivitis, Increased bone mi... ORPHA:36913
Immunodeficiency 27A
Hypoalbuminemia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femo... OMIM:209950
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive OMIM:601410
Drug-Induced Localized Lipodystrophy
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy ORPHA:90157
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Generalized lipodystrophy, Small for gestational age, Failure to thrive, Slender build ORPHA:50811
Congenital Short Bowel Syndrome
Sparse hair, Lipoatrophy, Displacement of the urethral meatus ORPHA:2301
Ane Syndrome
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo... ORPHA:157954
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy, Hypergonadotropic hypogonadism, Finger joint contracture OMIM:212112
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Panniculitis-Induced Localized Lipodystrophy
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy ORPHA:90159
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Pes cavus, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Osteomalacia, Difficulty walking, Abnormal tibia morphology... ORPHA:249
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Rhabdoid Tumor
Anemia, Weight loss, Hypercalcemia, Thrombocytopenia ORPHA:69077
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Polyphagia, Episodic hemolytic anemia, Increased bloo... ORPHA:251004
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridem... OMIM:607616
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome... OMIM:617591
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Lethargy, Anorexia,... OMIM:611590
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Increased mean corpuscular volume, Failure to thrive... OMIM:617052
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Falls, Hypocalcemia, Elevated circulating creatine kinase concentratio... OMIM:615883
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Lipoatrophy, Thrombocytopenia ORPHA:141184
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Type II diabetes mellitus, Lipoatrophy ORPHA:2833
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Adrenal calcification, Acute hepatic failure, Increased LDL cholestero... OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... OMIM:619868
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... OMIM:616516
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:603553
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Incre... ORPHA:189427
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Decreased sku... ORPHA:93325
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Microcytic anemia, Flexion contracture of finger, Hepatomegaly, Elevat... OMIM:256040
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... OMIM:616860
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abn... ORPHA:1414
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ... ORPHA:2088
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Micrognathia, Hypocalcemia, Short foot, Hyp... OMIM:241410
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Penile freckling, Multiple lipomas, A... ORPHA:210548
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Multiple lipomas, Lipodystrophy, Elevated circulating creatine kinase concentration OMIM:151800
Stiff Skin Syndrome
Elbow flexion contracture, Lipodystrophy, Knee flexion contracture, Camptodactyly OMIM:184900
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D... OMIM:619048
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Decreased body weight, Lipodystrophy, Truncal obesity, High ... OMIM:270450
Huntington Disease
Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha... ORPHA:399
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoketotic hypoglycemia, Hy... ORPHA:263455
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Abnormal dental enamel morphology, Microgna... ORPHA:2323
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Fatigable weakness of swallowing muscles, Difficulty walking, Hypocalcemia, Hy... ORPHA:99845
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Difficulty walkin... OMIM:600081
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Radial bowing, Decreased circulating beta-2-m... OMIM:241600
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Rabson-Mendenhall Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced subcutaneous adipose tiss... ORPHA:769
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Alg3-Cdg
Decreased liver function, Lipodystrophy, Abnormality of the gastrointestinal tract, High palate, ... ORPHA:79321
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Polycystic ovaries, Dysmenorrhea, Cirrhosis, Hepatomegaly, Irregu... ORPHA:264580
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, B... OMIM:619073
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Metaphyseal cupping, Clubbing of fingers, Micrognathia, Hip contracture, Knee flexion... OMIM:156400
Linear Verrucous Nevus Syndrome
Genu recurvatum, Cataract, Abnormal cornea morphology, Toe syndactyly, Reduced bone mineral densi... ORPHA:2611
Secondary Short Bowel Syndrome
Central hypothyroidism, Volvulus, Failure to thrive, Cholestasis, Villous atrophy, Abnormal small... ORPHA:95427
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... ORPHA:75234
Aromatase Deficiency
Insulin resistance, Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, C... ORPHA:91
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Polydipsia, Metacarpal periosteal thickening, Calvarial osteoscler... OMIM:617994
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Decreased serum testosterone con... ORPHA:52901
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... ORPHA:42
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elev... ORPHA:94093
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Abnormal circulating creatine kinase concentration, Pes cavus, Hyperchole... ORPHA:488650
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Small for gestational age, Hyperphosphatemia, Calvarial hyperostosis, Long hallux,... OMIM:101800
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
C3 Glomerulopathy
Elevated circulating creatinine concentration, Lipodystrophy ORPHA:329918
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Cardiomyopathy, Increased le... ORPHA:26792
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Lethargy, Spastic ataxia, Megaloblastic ane... OMIM:277410
Schaaf-Yang Syndrome
Gastroesophageal reflux, Hypogonadism, Failure to thrive in infancy, Obesity, Thick eyebrow, Poly... OMIM:615547
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Fail... ORPHA:289157
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Anemia, Lymphadenop... OMIM:603552
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Abnormal eat... ORPHA:247585
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lipodystrophy, Lymphadenopathy, Thrombocytopenia, B lymph... OMIM:618048
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Hyperb... OMIM:609734
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... ORPHA:356961
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hepatitis, Hemophagocytosis, Increased circ... OMIM:300635
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Elbow flexion contracture, Increased LDL cholesterol concentration, Obesi... ORPHA:98855
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Osteopenia, Metaphyseal dysplasia, Craniosynostosis, Hypercalcemia OMIM:614732
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Pedal edema OMIM:152800
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Weight l... ORPHA:507
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc... OMIM:619386
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Protein-losing enteropathy, Proximal tubulopa... OMIM:602579
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Hyperparathyroidism, Neonatal Severe
Metaphyseal irregularity, Polydipsia, Failure to thrive, Splenomegaly, Hypophosphatemia, Calcinos... OMIM:239200
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Hypoglycemia, Sandal gap, Failure to thrive, Hypocalcemia, Short humerus... OMIM:607143
Short Syndrome
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, Weight los... ORPHA:3163
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... OMIM:620357
Temple Syndrome
Precocious puberty, Bifid uvula, Recurrent hypoglycemia, Decreased response to growth hormone sti... ORPHA:254516
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Decreased a... OMIM:606721
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Hyperlipidemia... ORPHA:90154
Oculoskeletodental Syndrome
Short 5th finger, Clinodactyly, Hypoplasia of the capital femoral epiphysis, Hypocalcemia, Enamel... ORPHA:557003
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu... OMIM:264700
Leptospirosis
Macular cotton wool spot, Chorioretinitis, Conjunctival hyperemia, Optic neuritis, Papilledema, T... ORPHA:509
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, L... OMIM:606407
Addison Disease
Normocytic anemia, Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Thiamine-responsive... ORPHA:85138
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Salt craving, De... ORPHA:95409
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Abnormal hip bone morphology, Genu valgum, Ab... ORPHA:93160
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... OMIM:616959
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy ORPHA:154
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit h... ORPHA:35878
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Hyponatremia, Lethargy, Weight loss, Anorexia ORPHA:178029
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Maturity-onset diabetes of the young, Clinodactyly, Obesity, Micrognathia, Hyperchole... ORPHA:254531
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Elbow flexion contracture, Hypertrophic cardiomyopathy, Increased LDL cho... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Elbow flexion contracture, Hypertrophic cardiomyopathy, Increased LDL cho... ORPHA:98853
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Unilateral radial aplasia, Failure to thrive, Hypercalcemia, Micrognathia, Gait ataxia, Partial a... ORPHA:476126
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Abnormal hair morphology, Oligozoospermia, Macroorchidism, Male i... ORPHA:3000
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Porphyria Cutanea Tarda
Portal inflammation, Hepatic steatosis, Decreased circulating hepcidin concentration, Increased u... ORPHA:101330
Ménétrier Disease
Hypoalbuminemia, Weight loss, Hypochromic microcytic anemia, Anorexia, Hypoproteinemia ORPHA:2494
Mucopolysaccharidosis-Plus Syndrome
Low posterior hairline, Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macr... OMIM:617303
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo... OMIM:232200
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Difficulty walkin... OMIM:241530
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt... OMIM:226990
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Cataract, Broad-based gait, Microcytic anemia, Failure to thrive in infancy OMIM:618805
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Hyperostosis, Angioid streaks of the fundus, Conjunctival whitish salt-like de... OMIM:211900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Xanthelasma, Hepatic steatosis, Tubulointerstitial fibrosis,... ORPHA:79259
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Hypertrophic cardiomyopathy, Increased LDL cholesterol concentration, ... ORPHA:98863
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... OMIM:232220
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Alg6-Cdg
Hypoalbuminemia, Failure to thrive, Retinal degeneration, Decreased LDL cholesterol concentration... ORPHA:79320
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Broad-based gait, Microcornea, Pes cavus, Increased HbA2 hemoglobin, In... OMIM:616943
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyebrow, Increased circulating free fatty acid level, Failure to thrive, Dilated... OMIM:610768
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Limb ataxia, Gait ataxia, Pes cavus, Elevated circulating creatine kinase concen... OMIM:208920
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutr... ORPHA:486
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... OMIM:616050
Becker Nevus Syndrome
Hypoplastic labia minora, Abnormal scrotum morphology, Lipoatrophy, Supernumerary nipple ORPHA:64755
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:79240
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Protein-losing enteropathy, Failu... ORPHA:79319
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis... OMIM:615710
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Failure to thrive, Generalized lipodystrophy, Slender build, Congenital generalized lipodystrophy... OMIM:608154
Albers-Schönberg Osteopetrosis
Optic atrophy, Short distal phalanx of finger, Abnormal epiphysis morphology, Genu valgum, Hypoca... ORPHA:53
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Abnormal hair morphology, General... ORPHA:79474
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Cryptorchidism, ... OMIM:175700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia OMIM:613839
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Large for gestational age, Inguinal hernia, Nephroblastoma, Enlarged kidney OMIM:618272
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia, Clubbing, Clubb... OMIM:226300
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Idiopathic Localized Lipodystrophy
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy ORPHA:90158
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Calciphylaxis
Cellulitis, Ectopic ossification, Hyperphosphatemia ORPHA:280062
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Fucosidosis
Failure to thrive, Abnormality of the gallbladder, Cardiomegaly, Hypothyroidism, Hepatomegaly, Ac... ORPHA:349
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture OMIM:608540
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Fasciitis, Hepatosplen... ORPHA:39812
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Short thumb, Failure to thrive, Persistence of hemoglobin F, M... OMIM:612561
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu... OMIM:277440
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hypochromia, Po... OMIM:615234
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Splenomegaly, Failure to thrive, Hypocalcemia ORPHA:172
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Weight loss, Elevated circulating C-reactive protein... ORPHA:2070
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Obesity, Polyphagia, Primary amenorrhea, Micropenis, Dec... OMIM:614962
East Syndrome
Polydipsia, Hypomagnesemia, Difficulty walking, Inability to walk, Hyperaldosteronism, Hypokalemi... ORPHA:199343
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Smith-Magenis Syndrome
Abnormality of the urinary system, Head-banging, Velopharyngeal insufficiency, Abnormal heart mor... OMIM:182290
Infantile Myofibromatosis
Chondrocalcinosis, Hypercalcemia, Bone cyst, Abnormal metaphysis morphology, Osteolysis ORPHA:2591
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Immunodeficiency 15B
Reduced natural killer cell count, Failure to thrive, Monocytosis OMIM:615592
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... OMIM:615285
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Adamantinoma
Hypercalcemia ORPHA:55881
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Wolcott-Rallison Syndrome