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Gene: Bscl2 MGI:1298392

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Gene Summary

Name:
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Synonyms:
Gng3lg,  seipin

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gait Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 1.29×10-09
decreased bone mineral content Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 5.65×10-05
increased circulating aspartate transaminase level Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 2.24×10-18
increased food intake Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 4.40×10-07
increased circulating calcium level Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased monocyte cell number Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 2.52×10-05
increased circulating alanine transaminase level Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 1.09×10-39
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 neutrophil cell number Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 2.45×10-05
increased large unstained cell number Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 1.03×10-06
increased circulating alkaline phosphatase level Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal bone structure Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 1.55×10-09
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
increased circulating total protein level Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating glucose level Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 1.73×10-08
increased circulating serum albumin level Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased prepulse inhibition Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 8.79×10-09
increased mean corpuscular hemoglobin Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 5.44×10-13
decreased total retina thickness Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 1.38×10-05
improved glucose tolerance Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 9.52×10-05
increased circulating cholesterol level Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased fluid intake Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 2.13×10-23
increased cornea thickness Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 8.21×10-08
increased lean body mass Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased body length Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 9.11×10-08
decreased erythrocyte cell number Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 7.98×10-05
decreased respiratory quotient Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 1.13×10-07
decreased exploration in new environment Bscl2em1(IMPC)H HET Early adult 2.16×10-05
increased mean corpuscular volume Bscl2tm1b(EUCOMM)Hmgu HOM Early adult 1.28×10-35
increased circulating HDL cholesterol level Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 5.49×10-13
increased circulating phosphate level Bscl2tm1b(EUCOMM)Hmgu HOM   Early adult 3.07×10-08

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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 Lateral Orientation

21 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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MicroCT E18.5

Embryo reconstruction

4 Images

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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
Amenorrhea, Hypertrichosis, Low anterior hairline, Hepatomegaly, Precocious puberty in females, H... ORPHA:528
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Generalized hirsutism... ORPHA:363400
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hype... OMIM:269700
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Distal Hereditary Motor Neuropathy Type 5
Pes cavus, Hammertoe, Unsteady gait, Pes valgus, Distal lower limb muscle weakness ORPHA:139536
Neuronopathy, Distal Hereditary Motor, Type Vc
Pes cavus, Distal lower limb muscle weakness, Difficulty walking OMIM:619112
Autosomal Dominant Spastic Paraplegia Type 17
Split hand, Spastic gait, Pes planus, Abnormality of the foot musculature ORPHA:100998
Spastic Paraplegia 17, Autosomal Dominant
Split hand, Spastic gait, Pes cavus 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
Reduced subcutaneous adipose tissue, Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatos... OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... ORPHA:280356
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Insu... OMIM:604367
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Decreased adiponectin lev... ORPHA:435660
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Insulin resistance, Oligomenorrhea, Decreased serum leptin, Lipodys... ORPHA:79085
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Oligomenorrhea, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mell... OMIM:613877
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased adiponectin level, Loss of gluteal subcutan... ORPHA:435651
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Irregular menstruation, Decreased... OMIM:615238
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Congenital Generalized Lipodystrophy
Amenorrhea, Hypertrichosis, Low anterior hairline, Hepatomegaly, Precocious puberty in females, H... ORPHA:528
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Increased LDL cholesterol concentration, Oligospermia, De... OMIM:615703
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology ORPHA:2398
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Hypertriglycerid... OMIM:615381
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Lipoatrophy, Hepatomegaly, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Lipoatrophy, Pancreatitis, Cellulitis, Dysmenorrhea, Hepatomegaly, Splenom... ORPHA:2348
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Polycystic ov... OMIM:151660
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Mandibuloacral Dysplasia
High palate, Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lip... ORPHA:2457
Primary Lipodystrophy
Hyperlipidemia, Lipoatrophy, Pancreatitis, Type II diabetes mellitus, Splenomegaly, Insulin resis... ORPHA:90970
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Lipodystrophy, Secondary amenorr... ORPHA:280365
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Lipoatrophy, Pancreatitis, Dysmenorrhea, Hepatomegaly, Splenomegaly, Cirrh... ORPHA:79083
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Generalized hirsutism... ORPHA:363400
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hype... OMIM:608594
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... ORPHA:324575
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... OMIM:232700
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hype... OMIM:269700
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Macroglossia, Small for gestational age, Maturity-onset diabe... ORPHA:99886
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Cholestatic liver disease, Intestinal inflammation, Hepatosplenomegaly, Lipody... OMIM:619858
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Ataxia, Neutropenia, Abnormal T cell subset distrib... ORPHA:158048
Acquired Partial Lipodystrophy
Generalized hirsutism, Lipoatrophy, Lymphocytosis, Insulin resistance, Hepatic steatosis ORPHA:79087
Acquired Generalized Lipodystrophy
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, ... ORPHA:79086
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... ORPHA:181393
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
H Syndrome
Amenorrhea, Abnormal eyebrow morphology, Hypertrichosis, Histiocytosis, Alopecia, Micropenis, Hep... ORPHA:168569
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Ileus, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Elev... OMIM:613327
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Osteoporosis, Impaired glucose tolerance, Hypertriglyceridem... OMIM:610947
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... OMIM:610717
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Increased mean corpuscular he... ORPHA:90041
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, High palate, Hyper... OMIM:248370
Growth Factors, Combined Defect Of
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... OMIM:233805
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Low anterior hairline, Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed thelarche, Diab... OMIM:616033
Temple Syndrome
High palate, Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young... OMIM:616222
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Sparse hair, Flexion contract... OMIM:608612
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Hyperlipoproteinemia, Flexion contracture, Abno... ORPHA:1979
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Ovari... OMIM:246200
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... OMIM:617885
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Ddost-Cdg
Failure to thrive, Gastroesophageal reflux, Elevated hepatic transaminase, Lipodystrophy, Primary... ORPHA:300536
Pseudohypoparathyroidism, Type Ia
Short toe, Subcutaneous ossification, Brachydactyly, Osteoporosis, Enamel hypoplasia, Hypocalcemi... OMIM:103580
Multiple Myeloma
Splenomegaly, Osteopenia, Hyperproteinemia, Elevated circulating creatinine concentration, Weight... ORPHA:29073
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility, Inguinal hernia OMIM:261550
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Hyperinsulinemi... ORPHA:2849
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Secondary a... ORPHA:3085
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Polymicrogyria, Lipodystrophy, Hy... OMIM:619273
Hypophosphatasia
Craniosynostosis, Hypercalcemia, Bowing of the long bones, Abnormal metaphysis morphology, Anemia... ORPHA:436
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity, Delayed puberty ORPHA:140941
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Syndactyly,... ORPHA:2169
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis, Hypogonadism, Atypical scarring... ORPHA:791
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:256450
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Pseudohypoparathyroidism, Type Ic
Brachydactyly, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Cataract,... OMIM:612462
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Werner Syndrome
Pili torti, Sparse scalp hair, Type II diabetes mellitus, Lipoatrophy, Ovarian neoplasm, Abnormal... ORPHA:902
Poems Syndrome
Hypertrichosis, Leukonychia, Abnormality of the endocrine system, Polycythemia, Increased circula... ORPHA:2905
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Blue Diaper Syndrome
Increased body weight, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia, Recu... ORPHA:94086
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Flexion contracture, Hyperglycemia OMIM:618856
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Pes cavus, Hypoalbuminemia, Hypercholesterolemia, Steppage gait OMIM:607250
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Lipodystrophy, Partial, Acquired, Susceptibility To
Hirsutism, Nephrotic syndrome, Abnormal circulating lipid concentration, Loss of truncal subcutan... OMIM:608709
Leprechaunism
Reduced subcutaneous adipose tissue, Hypertrichosis, Hyperinsulinemia, Hepatomegaly, Facial hyper... ORPHA:508
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Familial Multiple Lipomatosis
Hyperlipidemia, Lipodystrophy, Increased adipose tissue, Insulin resistance, Abnormal tricuspid v... ORPHA:199276
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Impotence, Hepatomegaly, Cirrh... OMIM:606069
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... ORPHA:93323
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Enamel hypoplasia, Hypocalcem... ORPHA:94089
Paget Disease Of Bone 5, Juvenile-Onset
Failure to thrive, Increased bone mineral density, Retinal degeneration, Hydroxyprolinemia, Osteo... OMIM:239000
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90160
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarge... OMIM:608836
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Increased bone mineral density, Small for gestational age, Papilledema, Abnormality... OMIM:127000
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of facial adipose tissue, Lipodystrophy, Progressive loss of facial adipose tissue, Loss of ... OMIM:613913
Hypophosphatasia, Infantile
Bowing of the legs, Failure to thrive, Metaphyseal cupping, Short ribs, Craniosynostosis, Elevate... OMIM:241500
Familial Isolated Dilated Cardiomyopathy
Abnormality of neutrophils, Elevated circulating creatine kinase concentration, Lipoatrophy ORPHA:154
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, High palate, Hyperinsulinemia, Precocious puberty, Small for gestatio... OMIM:262190
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Sparse eyebrow, Flexion contracture, Sparse eyelashes, Lipodystrophy, Testicul... ORPHA:75496
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Lipodystrophy OMIM:212112
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Ataxia, Hemophagocytosis, Spleno... OMIM:267700
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Abnormal hair quantity, Cryptorchidism, Shagreen patch, Premature graying of hair, L... ORPHA:2617
Bardet-Biedl Syndrome 9
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Postaxial polydactyly, Syndactyly, Brachyda... OMIM:615986
Aredyld Syndrome
Type II diabetes mellitus, Lipoatrophy, Hepatomegaly, Splenomegaly, Sparse body hair, Aplasia/Hyp... ORPHA:1133
Ulna Metaphyseal Dysplasia Syndrome
Coxa valga, Hypercalcemia OMIM:191420
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:615234
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Pseudohypoparathyroidism Type 1A
Band keratopathy, Short 3rd metacarpal, Cataract, Calcinosis, Broad distal phalanx of the thumb, ... ORPHA:79443
Shwachman-Diamond Syndrome
Steatorrhea, Osteopenia, Aplastic anemia, Macrocytic anemia, Proximal femoral epiphysiolysis, Pan... ORPHA:811
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Hypocalcemia, Conjunctivitis, Increased bone mineral density, Ectopic oss... ORPHA:79444
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Pes cavus, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb muscle weakness, Step... ORPHA:94124
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hepatomegaly, Atrial septal defect, Hypoproteinemia, Small for gestational age, Hyp... ORPHA:26793
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... ORPHA:465508
Type 1 Diabetes Mellitus
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Diabetes mellitus, Hyper... OMIM:222100
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Bone cyst, Hypercalcemia ORPHA:2668
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Short Syndrome
Glucose intolerance, Lipoatrophy, Inguinal hernia, Small for gestational age, Lipodystrophy, Insu... OMIM:269880
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash m... ORPHA:1818
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Abnormal intestine morphology, Hyperinsulinemia OMIM:606528
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Brachydactyly, Hyperphosphatemia, Obesity, Short metacarpal OMIM:603233
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago... OMIM:619644
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Primary Pigmented Nodular Adrenocortical Disease
Alopecia, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fat tissue distribu... ORPHA:189439
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90157
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Cataract, C... ORPHA:36913
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hi... ORPHA:189427
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Failure to thrive, Generalized lipodystrophy, Small for gestational age ORPHA:50811
Rhabdoid Tumor
Weight loss, Anemia, Thrombocytopenia, Hypercalcemia ORPHA:69077
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia, Lipoatrophy ORPHA:141184
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Congenital Short Bowel Syndrome
Displacement of the urethral meatus, Lipoatrophy, Sparse hair ORPHA:2301
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hepatomegaly, Lymphopenia, Flexion contracture, Splenomegaly, Thrombocytopenia... OMIM:617591
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Small hand, Micrognathia, Patchy osteosclerosis, Hyperphosphatemia, Short foot, Sho... OMIM:241410
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Cystinosis
Failure to thrive, Polydipsia, Hypophosphatemia, Hypokalemia, Corneal opacity, Retinopathy, Gait ... ORPHA:213
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90159
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Areflexia of lower limbs, Flexion contracture, Elevated circulating creatine kinase... OMIM:615883
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Macular dystrophy, Abnormal retinal mor... ORPHA:251004
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Abnormality of the humerus, Thin bony cortex, Abnormal bone stru... ORPHA:249
Ane Syndrome
Multiple joint contractures, Lipoatrophy, Decreased serum testosterone concentration, Reduced cir... ORPHA:157954
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... OMIM:620044
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Retinal hemorrha... ORPHA:86839
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Oligomenorrhea, Irregular menstruation, Hepa... ORPHA:370
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal... OMIM:619868
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Hepatic failure, I... ORPHA:2088
Secondary Short Bowel Syndrome
Failure to thrive, Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestina... ORPHA:95427
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... OMIM:616860
Sanjad-Sakati Syndrome
Corneal opacity, Hypocalcemia, Small hand, Micrognathia, Patchy osteosclerosis, Astigmatism, Hype... ORPHA:2323
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Stiff Skin Syndrome
Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Camptodactyly OMIM:184900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Late-Onset Isolated Acth Deficiency
Failure to thrive, Decreased circulating cortisol level, Eosinophilia, Normocytic anemia, Macrocy... ORPHA:199299
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, P... ORPHA:93325
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertrichosis, Flexion contracture of finger, Hepatomegaly, Elevated circulating C-reactive prot... OMIM:256040
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Stiff Skin Syndrome
Type II diabetes mellitus, Lipoatrophy, Abnormal circulating lipid concentration ORPHA:2833
Omenn Syndrome
Failure to thrive, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe ... OMIM:603554
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Sparse axillary hair, Delayed men... ORPHA:52901
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Adrenal calcification, Hypertriglyceridem... ORPHA:75234
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, High palate, Hypertrichosis, Polydipsia, Long penis, Ventric... ORPHA:769
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Aromatase Deficiency
Generalized hirsutism, Female infertility, Ambiguous genitalia, female, Hyperlipidemia, Type II d... ORPHA:91
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Alg3-Cdg
High palate, Decreased liver function, Abnormality of the endocrine system, Macroglossia, Abnorma... ORPHA:79321
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Ataxia, Hemophagocytosis, Spleno... OMIM:603553
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymph... ORPHA:1414
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Genetic Recurrent Myoglobinuria
Hypocalcemia, Difficulty walking, Hyperphosphatemia, Fatigable weakness of swallowing muscles, Hi... ORPHA:99845
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Clinodactyly of the 5th finger, Hypophosphatemia, Metaphyseal cupping, Short rib... OMIM:156400
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... OMIM:277410
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Hypophosphatemia, Metaphyseal cupping, Hypocalcemia, Osteopenia, Flared metap... OMIM:619073
Linear Verrucous Nevus Syndrome
Abnormal cornea morphology, Hypophosphatemia, Genu recurvatum, Aplasia/Hypoplasia of the fovea, R... ORPHA:2611
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Acrodysostosis 1 With Or Without Hormone Resistance
Dislocated radial head, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Hypoplas... OMIM:101800
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Cataract, Hypocalcemic seizures OMIM:146200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Portal fibrosis, Dysmenorr... ORPHA:264580
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Delayed epiphyseal ossification, Bowin... OMIM:600081
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ... ORPHA:2089
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, A... ORPHA:369
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Abnormal circulating creatine kinase concentration, Progressive pe... ORPHA:488650
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head, Th... OMIM:209950
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, E... OMIM:619048
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Throm... OMIM:603552
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Failure to thrive, Hypokalemia, Hepatosplenomegaly, Rickets, H... OMIM:611590
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thrombocytopenia, Lipod... OMIM:618048
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Alopecia, Generalized lipodystrophy, Calcinosis, Nail dystrophy, Delayed puberty,... ORPHA:90154
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:618398
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Hemophagocytosis, Splenomega... OMIM:300635
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Hepatic failure, Cir... OMIM:602579
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Osteopenia, Hypercalcemia OMIM:614732
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration, Hypopituitarism OMIM:145750
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Decreased response to growth hormone st... OMIM:203800
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Abnormal hair morphology, Macroor... ORPHA:3000
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, High palate, Decreased body weight, Truncal obesity, Lipodys... OMIM:270450
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98855
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... OMIM:618849
Hemochromatosis, Type 1
Amenorrhea, Increased circulating ferritin concentration, Testicular atrophy, Impotence, Hepatome... OMIM:235200
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Short Syndrome
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Weight loss, Abnormal dent... ORPHA:3163
Hyperparathyroidism, Neonatal Severe
Metaphyseal irregularity, Failure to thrive, Hypophosphatemia, Polydipsia, Splenomegaly, Hypercal... OMIM:239200
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Microcytic anemia, Cataract, Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Pedal edema, Lymphopenia OMIM:152800
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Ethylmalonic aciduria, Ketot... ORPHA:26792
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... ORPHA:94093
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Coarse hair, Enlarged kidney, Thrombocytopenia, Long eyelashes, Proteinuria, Bone m... OMIM:617303
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... OMIM:619855
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Neutropenia, Splenomegaly, Decreased... OMIM:232220
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Increased urinary glycerol, Hypoglycemia, Hyper... OMIM:307030
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia ORPHA:369873
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Bone cyst, Abnormal adipose tissue morphology, Abnormal hip bone ... ORPHA:93160
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Failure to thrive, Glucose intolerance, Small for gestationa... OMIM:606721
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... ORPHA:42
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Schaaf-Yang Syndrome
Thick eyebrow, Gastroesophageal reflux, Flexion contracture, Micropenis, Camptodactyly, Polyphagi... OMIM:615547
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, Delayed... OMIM:264700
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98853
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Short distal phalanx of finger, Hypocalcemia, Optic atrophy, Abnor... ORPHA:53
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Irregular menstruation... ORPHA:79240
Oculocerebrodental Syndrome
Metaphyseal dysplasia, Hypocalcemia, Short 5th finger, Hypoplasia of the capital femoral epiphysi... ORPHA:557003
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Micrognathia, Maturity-onset diabetes of the young, Short foot, Clinodactyly, Hyperch... ORPHA:254531
Leptin Deficiency Or Dysfunction
Micropenis, Primary amenorrhea, Decreased serum leptin, Abnormal eating behavior, Polyphagia, Dec... OMIM:614962
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidney, Proteinuria, Hyperuricemia, ... ORPHA:79259
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Metacarpal periosteal thickening, Achilles tendon calcification, Hyperphosphatemia, H... OMIM:617994
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Hypervitaminosis A, Susceptibility To
Papilledema, Hypercalcemia OMIM:240150
Slc35A2-Cdg
Inability to walk, Talipes equinovarus, Increased circulating thyroglobulin level, Craniosynostos... ORPHA:356961
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Endocardial fibroelastosis, Hypoglycemia, Elevat... OMIM:212140
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Short toe, Monocytosis, Brachydactyly, Tapered finger, Short finger OMIM:610680
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Alg6-Cdg
Failure to thrive, Ataxia, Retinal degeneration, Shortening of all distal phalanges of the finger... ORPHA:79320
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98863
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Pes cavus, Elevated circulating creatine kinase concentr... OMIM:208920
Atypical Werner Syndrome
Hyperinsulinemia, Ovarian neoplasm, Alopecia, Glycosuria, Secondary amenorrhea, Abnormality of ci... ORPHA:79474
Calciphylaxis
Ectopic ossification, Hyperphosphatemia, Cellulitis ORPHA:280062
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... OMIM:613027
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... OMIM:220111
Becker Nevus Syndrome
Hypoplastic labia minora, Abnormality of the scrotum, Lipoatrophy, Supernumerary nipple ORPHA:64755
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Abnormal circulating fatty-acid concent... ORPHA:263455
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Inguinal hernia, Camptodactyly of toe, Hypospadias, Umbilical hern... OMIM:175700
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Sparse eyebrow, Sparse eyelashes, Alopecia, Hypoketotic hypoglycemia, Dilated ... OMIM:610768
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Decreased response to growth hormone stimulatio... OMIM:606407
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Pancreatic hypoplasia, Hypoglycemia, Diab... OMIM:609069
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Conjunctival whitish salt-like deposits, Angioid streaks of the fundus, Enamel hypoplasia, Hyperp... OMIM:211900
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Renal tubular acidosis, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulat... OMIM:255120
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Failure to thrive, Small for gestational age, Generalized lipodystrophy, Congenita... OMIM:608154
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Hyperinsulinemia OMIM:618406
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Cellulitis, Osteopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblas... ORPHA:486
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Micrognathia, ... OMIM:612561
Mpi-Cdg
Decreased liver function, Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy... ORPHA:79319
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Tibial bowing, Delayed epip... OMIM:241530
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Addison Disease
Failure to thrive, Decreased circulating cortisol level, Salt craving, Normocytic anemia, Increas... ORPHA:85138
Ruijs-Aalfs Syndrome
Lipodystrophy, Hepatocellular carcinoma, Elbow flexion contracture, Decreased body weight OMIM:616200
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
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Osteopenia, Chondrocalcinosis, Generalized osteoporosis, Hypercalcemia, Infanti... ORPHA:99879
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia OMIM:608898
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increa... OMIM:615954
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea, Impaired glu... OMIM:615363
Acute Adrenal Insufficiency
Failure to thrive, Decreased circulating cortisol level, Salt craving, Normocytic anemia, Increas... ORPHA:95409
Fucosidosis
Failure to thrive, Lipoatrophy, Hepatomegaly, Abnormality of the gallbladder, Hypothyroidism, Acr... ORPHA:349
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... OMIM:613101
Adamantinoma
Hypercalcemia ORPHA:55881
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... ORPHA:247585
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly... OMIM:602390
Glycosylphosphatidylinositol Biosynthesis Defect 17
High palate, Hypertriglyceridemia OMIM:618010
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Hypogonadism OMIM:608540
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, Delayed... OMIM:277440
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Ataxia, Inability to walk, Hemophagocytosis, Increa... ORPHA:167
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short... OMIM:607143
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Decreased body weight, Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, ... ORPHA:1667
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, W... ORPHA:2070
Infantile Myofibromatosis
Bone cyst, Chondrocalcinosis, Osteolysis, Hypercalcemia, Abnormal metaphysis morphology ORPHA:2591
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Huntington Disease
Gait imbalance, Inability to walk, Bradykinesia, Decreased body mass index, Gait disturbance, Dif... ORPHA:399
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Dengue Fever
Lethargy, Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Lymphopenia, Micropenis, Hypoglycemia, Hypertriglyceridemia, Hypothyroidis... OMIM:617575
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90158
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia OMIM:616871
Leptospirosis
Optic neuritis, Papilledema, Hyperproteinemia, Retinal hemorrhage, Chorioretinitis, Macular cotto... ORPHA:509
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Reduced bone mineral density, Hypocalcemia, Splenomegaly ORPHA:172
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Hypoalbuminemia, Pancytope... ORPHA:507
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Lacticaciduria, Elevated circulating creatine... OMIM:619386
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Hyperglycinuria, Increased circulating free fatty ac... ORPHA:941
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Hypocalcemia, Hypophosphatemia, Osteomalacia, Iron deficiency anemia, Tooth a... ORPHA:89937
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu... OMIM:307800
Graft Versus Host Disease
Hyperbilirubinemia, Dupuytren contracture, Hemophagocytosis, Chronic hepatitis, Hepatosplenomegal... ORPHA:39812
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Proteinuria, Proximal tubulopathy, Per... OMIM:212065
Central Diabetes Insipidus
Failure to thrive, Polydipsia, Hyponatremia, Weight loss, Lethargy ORPHA:178029
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Clubbing of fingers, Cl... OMIM:226300
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Cerebrooculofacioskeletal Syndrome 1
Hirsutism, Joint contracture of the hand, Flexion contracture, Camptodactyly, Elbow flexion contr... OMIM:214150
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... OMIM:618858
Osteopetrosis, Autosomal Recessive 1
Coxa vara, Failure to thrive, Hypocalcemia, Increased bone mineral density, Splenomegaly, Cranios... OMIM:259700
East Syndrome
Hypomagnesemia, Hypokalemia, Ataxia, Inability to walk, Polydipsia, Salt craving, Increased circu... ORPHA:199343
Porphyria Cutanea Tarda