Gene Summary

Name:
carboxypeptidase E
Synonyms:
carboxypeptidase H,  CPH,  Cph1,  Cph-1,  NF-alpha1

IMPC Data Collections

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
hypoactivity Cpetm1b(EUCOMM)Hmgu HOM Early adult 2.02×10-12
increased circulating aspartate transaminase level Cpetm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating alanine transaminase level Cpetm1b(EUCOMM)Hmgu HOM   Early adult 0.00
aorta stenosis Cpetm1b(EUCOMM)Hmgu HOM Early adult 6.12×10-06
increased fasting circulating glucose level Cpetm1b(EUCOMM)Hmgu HOM Early adult 3.60×10-37
decreased vertical activity Cpetm1b(EUCOMM)Hmgu HOM Early adult 8.45×10-10
decreased grip strength Cpetm1b(EUCOMM)Hmgu HOM Early adult 9.08×10-14
decreased circulating chloride level Cpetm1b(EUCOMM)Hmgu HOM   Early adult 1.92×10-09
increased circulating calcium level Cpetm1b(EUCOMM)Hmgu HOM   Early adult 3.69×10-06
male infertility Cpetm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased body length Cpetm1b(EUCOMM)Hmgu HOM   Early adult 2.26×10-12
increased circulating alkaline phosphatase level Cpetm1b(EUCOMM)Hmgu HOM   Early adult 5.44×10-11
decreased food intake Cpetm1b(EUCOMM)Hmgu HOM   Early adult 1.79×10-07
increased thigmotaxis Cpetm1b(EUCOMM)Hmgu HOM   Early adult 3.04×10-05
impaired glucose tolerance Cpetm1b(EUCOMM)Hmgu HOM Early adult 6.14×10-26
increased circulating glucose level Cpetm1b(EUCOMM)Hmgu HOM   Early adult 2.30×10-11
increased leukocyte cell number Cpetm1b(EUCOMM)Hmgu HOM   Early adult 2.61×10-09
increased mean corpuscular volume Cpetm1b(EUCOMM)Hmgu HOM   Early adult 8.88×10-16
abnormal behavior Cpetm1b(EUCOMM)Hmgu HOM   Early adult 3.04×10-05
abnormal locomotor behavior Cpetm1b(EUCOMM)Hmgu HOM Early adult 9.14×10-05
hyperactivity Cpetm1b(EUCOMM)Hmgu HOM   Early adult 1.79×10-06
increased hematocrit Cpetm1b(EUCOMM)Hmgu HOM   Early adult 1.15×10-05
decreased exploration in new environment Cpetm1b(EUCOMM)Hmgu HOM Early adult 4.06×10-08

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Submandibular gland  Wholemount images heterozygote 100% (1 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 1)
Aorta N/A heterozygote 0.0% (0 of 1)
Blood N/A heterozygote 0.0% (0 of 1)
Bone marrow N/A heterozygote 0.0% (0 of 1)
Bone N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote 0.0% (0 of 1)
Brainstem N/A heterozygote 0.0% (0 of 1)
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote 0.0% (0 of 1)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 1)
Cerebral cortex N/A heterozygote 0.0% (0 of 1)
Chest bone N/A heterozygote 0.0% (0 of 1)
Colon N/A heterozygote 0.0% (0 of 1)
Cranium N/A heterozygote 0.0% (0 of 1)
Diaphragm N/A heterozygote 0.0% (0 of 1)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote 0.0% (0 of 1)
Harderian gland N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hippocampus N/A heterozygote 0.0% (0 of 1)
Hypothalamus N/A heterozygote 0.0% (0 of 1)
Kidney N/A heterozygote 0.0% (0 of 1)
Large intestine N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A heterozygote 0.0% (0 of 1)
Main olfactory bulb N/A heterozygote 0.0% (0 of 1)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 1)
Oral epithelium N/A heterozygote 0.0% (0 of 1)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Parotid gland N/A heterozygote 0.0% (0 of 1)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 1)
Peyer's patch N/A heterozygote 0.0% (0 of 1)
Pituitary gland N/A heterozygote 0.0% (0 of 1)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach pyloric region N/A heterozygote 0.0% (0 of 1)
Stomach N/A heterozygote 0.0% (0 of 1)
Striatum N/A heterozygote 0.0% (0 of 1)
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 0.0% (0 of 1)
Tongue N/A heterozygote 0.0% (0 of 1)
Trachea N/A heterozygote 0.0% (0 of 1)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 1)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 1)
Vascular system N/A heterozygote 0.0% (0 of 1)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 1)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
cranium
diaphragm 0.0%
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Human diseases caused by Cpe 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 Cpe by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Reduced subcutaneous adipose ti... ORPHA:280356
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Constipation, Central hypothyroidism, Inappropriately normal thyroid-stimul... OMIM:301033
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Infertility, Azoospermia, Oligospermia, Insulin resistance, Hepatic steatos... OMIM:615703
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Insulinoma
Coma, Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Paresthesia, Neoplasm of... ORPHA:97279
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes mellitus, Chil... ORPHA:71529
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Lipodystrophy,... OMIM:604367
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Lipodystrophy, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:276575
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Decre... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Decre... ORPHA:71526
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Multiple Symmetric Lipomatosis
Paresthesia, Insulin resistance, Gait disturbance, Abnormal adipose tissue morphology, Multiple l... ORPHA:2398
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic is... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hypoglycemia, Leucine-Induced
Coma, Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia, Drowsiness, Spasticity OMIM:240800
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Abnormality of body weight, Hypoglycemia, Decreased... ORPHA:314811
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Failure to thrive in infancy, Hepatomegaly, Hypertriglyceri... OMIM:232700
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Primary... OMIM:612526
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Overweight, Glucose intolerance, ... ORPHA:552
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Huntington Disease
Dystonia, Decreased body mass index, Clumsiness, Poor fine motor coordination, Weight loss, Rigid... ORPHA:399
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatom... ORPHA:79084
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... OMIM:151660
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Insulin resistance, Hepatic... ORPHA:79085
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabe... ORPHA:435651
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Lipodystrophy, Familial Partial, Type 4
Oligomenorrhea, Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Insulin resistance, Hepatic... ORPHA:435660
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hyperinsulinemia, Insulin resistance, Poor motor coordination, Reduced intra... ORPHA:363400
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:66628
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia, Diarrhea, Failure to thrive, Vomiting OMIM:606528
Lipodystrophy, Familial Partial, Type 7
Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, Impaired g... OMIM:606721
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:179494
Hyperostosis Frontalis Interna
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Hepatic steatosis,... ORPHA:528
Leptin Receptor Deficiency
Polyphagia, Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyro... OMIM:614963
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Cryptorchidism, Overweight, Flexion c... OMIM:616222
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Confusion, Myoclonus, Babinski sig... OMIM:606777
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Mehmo Syndrome
Inability to walk, Male hypogonadism, Gait ataxia, Difficulty walking, Hypoplasia of the corpus c... OMIM:300148
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Tall stature, Obesity OMIM:618406
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Failure to thrive OMIM:617950
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia, Obesity ORPHA:329249
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed puberty, Dorsocervi... OMIM:616033
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, Myoclonus, Secondary microceph... OMIM:617829
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Confusion, Myocl... ORPHA:71277
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Obesity, Adrenal ... OMIM:609734
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Ataxia, Obesity, Cessation of head growth, Hyperactivity, Broad-based gait ORPHA:411515
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Lethargy, Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidi... ORPHA:398079
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Primary amenorrhea, Abnormal eating behavior, Hypogonadism, O... OMIM:614962
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia, Failure to thrive ORPHA:67046
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Failure to thrive, ... OMIM:617872
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase conce... OMIM:610717
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hepatic... ORPHA:436182
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
Classic Galactosemia
Postural tremor, Decreased fertility in females, Dystonia, Lethargy, Clumsiness, Incoordination, ... ORPHA:79239
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficien... OMIM:262700
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Gait disturbance, Abnormal cerebral white matter morphology, Babinski... OMIM:300660
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Hypoglycemia OMIM:616113
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Flexion contracture, Ataxia, Babinski sign, Leukoencephalopathy, Spasticity OMIM:611105
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Polycystic ovaries, Se... ORPHA:3085
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes mellitus OMIM:615980
Homocystinuria Without Methylmalonic Aciduria
Cerebral cortical atrophy, Failure to thrive, Lethargy, Ataxia ORPHA:622
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Ataxi... OMIM:614947
Isolated Growth Hormone Deficiency, Type V
Abdominal obesity, Microcephaly, Truncal obesity, Decreased response to growth hormone stimuation... OMIM:618160
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Temple Syndrome
Polyphagia, Decreased response to growth hormone stimuation test, Small for gestational age, Type... ORPHA:254516
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Azoospermia, Hypogonadism, Anemia, Spl... OMIM:615234
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Atypical scarring of skin, Type II diabetes mellitu... ORPHA:791
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Glucose intolerance, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue ... OMIM:246200
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly OMIM:619175
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Ketotic hypoglycemia, Hypertonia, Failure to thrive, Microcephaly ORPHA:26792
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Hypoplasia of the corpus callosum, Cerebral atrophy, Ataxia, Obesity... OMIM:616756
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypogonadism, Obesity ORPHA:85274
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Tall stature, Hepatomegaly, Inguinal hernia, Femoral hernia, Ab... ORPHA:2849
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Hypertriglyceridemia, Jaundice, Diarrhea, Splenome... ORPHA:75234
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Hypoglycemia, Ataxia, Microcephaly OMIM:246900
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic... ORPHA:3202
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Panhypopituitarism, Neonatal hypoglycemia, Hypothyroidism, Adrenal insuffi... OMIM:262600
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Lethargy, Abnormality of extrapyramidal motor function, Ataxia, Bra... ORPHA:101150
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Ataxia, Progressive leukoencephalopathy, Periventricular leukomalacia,... OMIM:615889
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Magel2-Related Prader-Willi-Like Syndrome
Infertility, Lethargy, Polyphagia, Premature pubarche, Central hypothyroidism, Hypothalamic lutei... ORPHA:398069
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity OMIM:617119
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Infertility, Decreased circulating ACTH level, Amenorrhea, Pituitary hypothyr... ORPHA:95619
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia ORPHA:446
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Reduced subcutaneous adipose tissue, Hype... OMIM:609069
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Lethargy, Megaloblastic anemia, Spastic ataxia, Hypomethioninemia, Methylmalonic acidem... OMIM:277410
Meningioma
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... ORPHA:2495
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Glycerol Kinase Deficiency
Cryptorchidism, Adrenocortical hypoplasia, Hypoglycemia, Hypertriglyceridemia, Adrenal insufficie... OMIM:307030
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia OMIM:618224
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 level, Lethargy, Reduced TSH response to thyrotrophin-releasing hormone ... OMIM:618573
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Diarrhea, Hypoalbuminem... OMIM:602579
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Cerebral atrophy, Failure to thrive, Hyperactivity, Tetraplegia, Microcepha... OMIM:274270
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Infertility, Cirrhosis, Abnormality of iron homeost... ORPHA:465508
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Diabetes mellitus, Polyphagia OMIM:222100
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Galactosemia
Postural tremor, Dystonia, Lethargy, Decreased serum insulin-like growth factor 1, Oligomenorrhea... ORPHA:352
Severe Canavan Disease
Inability to walk, Lethargy, Cerebral white matter atrophy, Megalencephaly, Oral-pharyngeal dysph... ORPHA:314911
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicular size, Dia... OMIM:610628
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Lethargy, Dystonia, Basal ganglia cysts, Cerebral atrophy, Small for gestational... OMIM:312170
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Abnormal periventricular white matter morphology, Dysphagia, Hypoplasia of th... OMIM:604360
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy, Hypoplasia of the corpus callosum, Flexion contracture, Cerebral atr... OMIM:617105
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Oligomenorrhea, Insulin resistance, Hepatic steatosis, Lipoatrophy,... ORPHA:79083
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Jaundice, Failure to thrive OMIM:617156
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Obesity ORPHA:254531
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Rhabdoid Tumor
Thrombocytopenia, Irritability, Hypercalcemia, Anemia ORPHA:69077
6Q16 Microdeletion Syndrome
Obesity, Poor coordination, Polyphagia, Broad-based gait ORPHA:171829
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Dysphagia, Somatic sensory dysfunction, Distal sensory impairment, Lim... ORPHA:90117
Migraine, Familial Hemiplegic, 1
Hemiplegia, Coma, Tremor, Hemiparesis, Ataxia, Confusion, Drowsiness OMIM:141500
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Polycystic ovaries... ORPHA:2348
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Bardet-Biedl Syndrome 9
Polyphagia, Irregular menstruation, Truncal obesity, Hyperglycemia, Polydipsia, Obesity OMIM:615986
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity OMIM:248100
Mpi-Cdg
Congenital hepatic fibrosis, Hypoglycemia ORPHA:79319
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gait disturbance, Primary amenorrhea, Unsteady gait, Secondary amenorrhea, Decreased ci... OMIM:603896
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal circul... ORPHA:79086
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphos... OMIM:603233
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Patent ductus arteriosus, Anemia ORPHA:2123
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Secondary amenorrhea, Increased facial adipose tissue, Insulin resistance, Increased adipose tiss... ORPHA:280365
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Diarrhea, Hypoalbuminemia, Failure to thrive, Vomiting, Hyperlipidemia OMIM:615863
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Coma, Dystonia, Hypertonia, Tetraparesis, Rigidity, Chorea, Abnormal pyramidal sign, Craniofacial... OMIM:607483
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Dysphagia, Ataxia, Babinski sign, Failure to thrive, Leukoencephalopathy, Pro... OMIM:618226
Methylcobalamin Deficiency Type Cble
Lethargy, Neutropenia, Pancytopenia, Hypomethioninemia, Increased mean corpuscular volume, Hyperh... ORPHA:2169
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Delayed puberty, Truncal obesity, Abnormality of the endocrin... ORPHA:633
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy, Failure to thrive ORPHA:79283
Schaaf-Yang Syndrome
Inability to walk, Arthrogryposis multiplex congenita, Polyphagia, Camptodactyly, Flexion contrac... OMIM:615547
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Diarrhea, Elevated circulating creatine kinase concentrati... ORPHA:264580
Retinohepatoendocrinologic Syndrome
Infertility, Maturity-onset diabetes of the young, Degenerative liver disease, Hypothyroidism OMIM:268040
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls OMIM:615883
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decre... ORPHA:90674
Mitchell-Riley Syndrome
Absent gallbladder, Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Hyperg... OMIM:615710
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babi... OMIM:607317
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Gait disturbance, Lethargy, Failure to thrive ORPHA:26
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Contractures of the joints of the lower limbs, Lethargy, Paralysis OMIM:613710
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Insulin resistance, Hepatic steatosis, Flexion contracture, Lipodystrophy, Hepato... OMIM:615381
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Stereotypy, Obesity OMIM:613886
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Decreased fertility in females, Hyperinsulinemia, Hepatic stea... OMIM:269700
Hypophosphatasia
Irritability, Hypercalcemia, Anemia ORPHA:436
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Breast hypoplasi... ORPHA:785
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Narcolepsy Type 1
Slurred speech, Excessive daytime somnolence, Cataplexy, Obesity ORPHA:2073
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, Hepatomegaly, Hypertr... OMIM:615238
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Dysphagia, Gait disturbance, Impaired distal vibration sensation, Fasc... ORPHA:276435
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Decreased fertility in females, Hyperinsulinemia, Hepatic stea... OMIM:608594
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young, Cryptorchidism, Truncal obesity, Smal... ORPHA:96184
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Hypoplasia of the corpus callosum, ... ORPHA:93952
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy, Hemiparesis OMIM:617900
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity ORPHA:436141
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia, Decreased serum testosterone concentration, Failure to thrive, Hypogona... OMIM:201100
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Cerebral atrophy OMIM:615924
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Failure ... OMIM:220111
Hemochromatosis Type 2
Lethargy, Impotence, Hypogonadism, Diabetes mellitus, Abnormality of endocrine pancreas physiology ORPHA:79230
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Hypogonadism, Sp... OMIM:615768
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic hypogonadism, ... OMIM:203800
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... ORPHA:98754
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Primary amenorrhea OMIM:615363
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Failure to thrive, Decreased testicular size, Hypogonadism, Prem... ORPHA:261483
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Progressive neurologic deterioration, Gait disturbance, Coronary artery atherosclerosis, Type I d... ORPHA:1192
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Diarrhea, Elevated circulating creatine kinase concentrati... ORPHA:370
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Prader-Willi Syndrome
Central hypothyroidism, Decreased circulating gonadotropin concentration, Precocious puberty, Pre... ORPHA:739
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Craniopharyngioma
Coma, Polyphagia, Abnormal hypothalamus morphology, Enlarged pituitary gland, Excessive daytime s... ORPHA:54595
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypogl... ORPHA:71212
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Primary amenorrh... ORPHA:95496
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... ORPHA:98793
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Pyruvate Dehydrogenase Deficiency
Dystonia, Tremor, Lethargy, Aplasia/Hypoplasia of the corpus callosum, Gait disturbance, Abnormal... ORPHA:765
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity ORPHA:177910
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Cirrhosis, Increased hepatic echogenicity, Hepatic steatosis, Portal hypert... OMIM:278000
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational age, Failure to thrive, ... ORPHA:73272
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... ORPHA:177904
Prader-Willi Syndrome
Abdominal obesity, Infertility, Hyperinsulinemia, Polyphagia, Oligomenorrhea, Poor fine motor coo... OMIM:176270
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... ORPHA:177901
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypogonadism, Abnormality of the thyroid gland, Type II diabetes mellitus, Decreased testicular s... ORPHA:2234
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Lethargy, Ataxia, Bradykinesia OMIM:618683
Glucocorticoid Resistance, Generalized
Irregular menstruation, Infertility, Hypoglycemia OMIM:615962
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Primary amenorrhea, Diarrhea, Hypogonadotropic hypogonadism... OMIM:600955
Glycine Encephalopathy
Lethargy, Agenesis of corpus callosum, Myoclonus, Hyperactivity OMIM:605899
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hernia of the abdominal wall, Aplasia/Hypoplasia of the testes, Obesity ORPHA:3055
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Hepatic steatosis, Hepatocellul... ORPHA:247585
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Lethargy, Dystonia, Rigidity, Dysphagia, Hyperkinetic movements, Limb hypertonia, Choreoa... OMIM:233910
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Overgrowth, Isosexual precociou... ORPHA:759
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Dystonia, Cerebral white matter atrophy, Difficulty walking, Hypop... ORPHA:464282
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Constipation, Flexion contracture, Lipod... OMIM:613327
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Weight loss, Hyperactivity OMIM:275000
Early Myoclonic Encephalopathy
Dysphagia, Lethargy, Myoclonus ORPHA:1935
Niemann-Pick Disease, Type B
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased LDL cholesterol concentration, Decrea... OMIM:607616
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Failure to thrive OMIM:610090
Dopa-Responsive Dystonia
Inability to walk, Tremor, Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Encephalopathy, Recurrent, Of Childhood
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Tremor, Ataxia, Spasticity OMIM:614307
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Dysphagia, Hypertonia, Myoclonus, Cerebral calcification, Microcephaly, Choreoa... OMIM:261630
Carnitine Deficiency, Systemic Primary
Coma, Lethargy, Excessive daytime somnolence, Impaired gluconeogenesis, Hypoglycemia, Confusion, ... OMIM:212140
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver dis... OMIM:616828
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:614480
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea, Obesity OMIM:604931
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatocellular carcinoma, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Delayed pubert... ORPHA:369
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy, Hemiparesis OMIM:613002
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hypothyroidism, Nausea, Hypopituitarism, Vomiting, Hyperglycemia ORPHA:90065
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Hypoglycemia, Ataxia, Failure to thrive, Microcephaly, Spasticity ORPHA:2394
Angelman Syndrome
Inability to walk, Tremor, Polyphagia, Dysphagia, Ataxia, Obesity, Cerebral cortical atrophy, Pre... ORPHA:72
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Dementia, Depression, Apathy, Gait disturbance, Bradyphrenia, Dysphagia, Emotional lability, Moto... ORPHA:136
Leukodystrophy, Hypomyelinating, 11
Hypoplasia of the corpus callosum, Tremor, Ataxia, Spasticity OMIM:616494
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Failure to thrive, Decreased r... OMIM:606407
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypothyroidism, Hepatic steatosis, Acute pancreatitis, Hepatom... ORPHA:412
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Gaba-Transaminase Deficiency
Lethargy, Agenesis of corpus callosum, Tall stature OMIM:613163
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
48,Xxyy Syndrome
Infertility, Abnormal dental enamel morphology, Tremor, Azoospermia, Hypergonadotropic hypogonadi... ORPHA:10
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Rigidity, Dysphagia, Hypertonia, Excessive daytime somnolence, Bradykinesia, At... OMIM:261640
Late-Onset Isolated Acth Deficiency
Lethargy, Hyponatremia, Hyperuricemia, Hypoglycemia, Normocytic anemia, Hypercalcemia, Type I dia... ORPHA:199299
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Paresthesia, Lethargy ORPHA:49827
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hemolytic anemia, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hepa... OMIM:611590
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Stereotypy, Progres... OMIM:617862
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Prader-Willi-Like Syndrome
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... ORPHA:398073
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Man1B1-Cdg
Truncal obesity, Polyphagia, Resting tremor, Broad-based gait ORPHA:397941
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Kleine-Levin Hibernation Syndrome
Confusion, Episodic hypersomnia, Polyphagia OMIM:148840
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Basal ganglia c... OMIM:612462
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Ataxia, Obesity, Unsteady... OMIM:618443
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint contracture of the... OMIM:175700
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Cerebral atrophy, Bradykinesia, Ankle clonus, Progressive inability to walk, Mu... ORPHA:521406
2Q23.1 Microdeletion Syndrome
Polyphagia, Ataxia, Stereotypy, Hyperactivity, Microcephaly ORPHA:228402
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Tremor, Po... ORPHA:525731
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Precocious puberty OMIM:614736
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Central Neurocytoma
Coma, Lethargy, Paresthesia, Pain insensitivity, Ataxia, Cerebral calcification, Babinski sign, A... ORPHA:73256
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Hepatocellular carcinoma, Imp... ORPHA:2088
Retinitis Pigmentosa 71
Pancreatitis, Obesity OMIM:616394
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Hypoglycemia, Cholestasis, Hepatic fibrosis, Prolonged neonat... OMIM:231100
Laurence-Moon Syndrome
Ataxia, Type II diabetes mellitus, Obesity ORPHA:2377
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Abnormal cerebral white matter morphology, Flexion contracture, Lethargy, Failure to thrive OMIM:201470
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Dysmetria, Hypera... OMIM:618090
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elbow flexion contractu... OMIM:616516
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hepatic steatosis, Hypopituitarism, Hypertriglyceridemia, Hypoalbuminemia, Microc... OMIM:619013
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Cerebral atrophy, Hypoalbuminemia OMIM:607250
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Paresthesi... ORPHA:251937
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia, Abnormal cerebral white matter morphology OMIM:618951
Adamantinoma
Hypercalcemia ORPHA:55881
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hepatic steatosis, Hypoglycemia, Failure to thrive OMIM:619048
Acth Deficiency, Isolated
Fasting hypoglycemia, Adrenal hypoplasia, Decreased circulating cortisol level, Cholestasis, Jaun... OMIM:201400
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Flexion contracture, Cerebral atrophy, Bradykinesia, Ankle cl... OMIM:617013
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Decreased fertility, Abnormal testis morphology, Obesity ORPHA:2233
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Sheehan Syndrome
Pituitary hypothyroidism, Abnormal size of pituitary gland, Obesity, Adrenocorticotropin deficien... ORPHA:91355
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Unsteady gait, Premature ovarian insufficiency, Distal sensory impairment, Obesity OMIM:618124
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Lethargy, Impaired vibratory sensation, Spastic paraparesis, Poor coordination, Abnormal py... OMIM:238970
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Ga... OMIM:615838
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Achilles tendon contracture, Adductor longus contractures, Dysm... OMIM:210000
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Cirrhosis, Hypoglycemia, Failure to thrive OMIM:617049
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Breast hypoplasia, Absence of secondary sex characteristics, Primary amenorrhea, Obesity, Hypotha... ORPHA:2235
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Basal ganglia c... OMIM:103580
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign, Diffuse c... OMIM:615362
Analbuminemia
Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy, Hypoalbumine... OMIM:616000
Wolfram-Like Syndrome
Male hypogonadism, Glucose intolerance, Hypothyroidism, Progressive cerebellar ataxia, Delayed pu... ORPHA:411590
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Myoclonus, Ataxia OMIM:618225
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia, Hyperprolinemia OMIM:239500
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries, Obesity OMIM:184700
Kallmann Syndrome With Spastic Paraplegia