Gene Summary

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

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
increased circulating aspartate transaminase level Cpetm1b(EUCOMM)Hmgu HOM   Early adult 0.00
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
increased fasting circulating glucose level Cpetm1b(EUCOMM)Hmgu HOM Early adult 3.60×10-37
aorta stenosis Cpetm1b(EUCOMM)Hmgu HOM Early adult 6.12×10-06
male infertility Cpetm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased body length Cpetm1b(EUCOMM)Hmgu HOM   Early adult 2.26×10-12
decreased vertical activity Cpetm1b(EUCOMM)Hmgu HOM Early adult 7.48×10-10
increased startle reflex Cpetm1b(EUCOMM)Hmgu HOM Early adult 1.52×10-07
decreased locomotor activity Cpetm1b(EUCOMM)Hmgu HOM Early adult 1.39×10-12
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
increased mean corpuscular volume Cpetm1b(EUCOMM)Hmgu HOM   Early adult 8.88×10-16
impaired glucose tolerance Cpetm1b(EUCOMM)Hmgu HOM Early adult 6.14×10-26
increased circulating glucose level Cpetm1b(EUCOMM)Hmgu HOM   Early adult 2.18×10-11
abnormal behavior Cpetm1b(EUCOMM)Hmgu HOM   Early adult 3.04×10-05
increased leukocyte cell number Cpetm1b(EUCOMM)Hmgu HOM   Early adult 2.55×10-09
increased circulating alanine transaminase level Cpetm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal locomotor behavior Cpetm1b(EUCOMM)Hmgu HOM Early adult 8.99×10-05
hyperactivity Cpetm1b(EUCOMM)Hmgu HOM   Early adult 1.79×10-06
increased hematocrit Cpetm1b(EUCOMM)Hmgu HOM   Early adult 1.06×10-05
decreased exploration in new environment Cpetm1b(EUCOMM)Hmgu HOM Early adult 2.49×10-08

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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 587)
aorta 0.17% (1 of 592)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cecum 5.8% (22 of 379)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
chest bone Unavailable
colon 15.83% (22 of 139)
cranium
diaphragm 0.0%
epididymis 14.48% (21 of 145)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
harderian gland 0.72% (1 of 138)
heart 0.34% (2 of 588)
hindlimb 0.0%
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 319)
olfactory lobe 0.34% (2 of 586)
oral epithelium 0.0%
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.39% (2 of 144)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
tongue 3.65% (5 of 137)
trachea 0.51% (3 of 591)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.34% (2 of 589)
vagina 0.0%
vas deferens 4.64% (18 of 388)
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.

Electrocardiogram (ECG)

Waveform Image

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

Adult LacZ

LacZ Images Wholemount

1 Images

X-ray

XRay Images Whole Body Lateral Orientation

2 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
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... 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
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... ORPHA:171706
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... ORPHA:280356
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... OMIM:619855
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Azoospermia, Increased LDL cholesterol concentration, Dec... OMIM:615703
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Insulin resista... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276580
Insulinoma
Fluctuations in consciousness, Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyper... ORPHA:97279
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
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
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276575
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... ORPHA:276556
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Coma, Hypoglycemia, Drowsiness, Spasticity OMIM:240800
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Insulin resistance, Multiple lipomas, Gait disturbance, Pares... ORPHA:2398
Short Stature Due To Ghsr Deficiency
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... ORPHA:314811
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Hypothyroidism, Congenital, Nongoitrous, 8
Constipation, Secondary amenorrhea, Hypercholesterolemia, Inappropriately normal thyroid-stimulat... OMIM:301033
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... OMIM:612526
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... ORPHA:181393
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Lipoatrophy, Polycystic ovaries, Diabetes mellitus,... ORPHA:79084
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Insulin resistance, Oligomenorrhea, Decreased serum leptin, Hypertr... ORPHA:79085
Huntington Disease
Gait imbalance, Inability to walk, Babinski sign, Chorea, Difficulty walking, Abnormal libido, Ex... ORPHA:399
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Oligomen... ORPHA:435651
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Insulin resistance, Loss ... ORPHA:435660
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Irregular menstruation, Decreased... OMIM:615238
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity, Irregular menstruation, Diabetes mellitus OMIM:144800
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... OMIM:615954
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Diarrhea, Vomiting, Hypoglycemia OMIM:606528
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Pro... ORPHA:528
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Hypergon... OMIM:614963
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... OMIM:616222
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Confusion, Hemiparesis, Paroxysmal lethargy, Choreoathetosis, S... OMIM:606777
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis OMIM:261650
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Hyperinsulinemia, Tall stature OMIM:618406
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Ataxia, Reduced intraabdominal adipose tissue, Hyperinsuline... ORPHA:363400
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Cyanosis, Confusion, Hemiparesis, Chore... ORPHA:71277
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity ORPHA:369873
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Oligomenorrhea, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mell... OMIM:613877
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Hyperlysinemia, Type I
Anemia, Hyperlysinemia, Hyperactivity, Cognitive impairment OMIM:238700
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Dystonia, Lethargy OMIM:617829
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Failure to thrive, Hepatomegaly ORPHA:67046
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Diabetes ... OMIM:610717
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepat... OMIM:617872
Mehmo Syndrome
Inability to walk, Decreased response to growth hormone stimulation test, Small for gestational a... OMIM:300148
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Leptin Deficiency Or Dysfunction
Primary amenorrhea, Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism, O... OMIM:614962
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitarism, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitarism, Glucose intolerance OMIM:145750
Classic Galactosemia
Gait imbalance, Ataxia, Action tremor, Clumsiness, Primary amenorrhea, Oligomenorrhea, Decreased ... ORPHA:79239
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Infertility, Type II diabetes mellitus, Precocious puberty,... ORPHA:398079
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Decreased response to growth hormone stimulation test, Truncal obesity OMIM:618160
Diabetes Mellitus, Permanent Neonatal, 2
Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Hypogonadism, Central hypothyroidism OMIM:616113
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordinati... OMIM:130950
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Secondary a... ORPHA:3085
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Myoclonus, Choreoathetosis, Spasticity, Spastic tetraparesis, Lethargy OMIM:617065
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Hypogonadism, Obesity, Ab... ORPHA:791
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Dystonia, Lethargy OMIM:618224
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly, Tall stature, Inguinal hernia, Femo... ORPHA:2849
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Adrenal calcification, Cirrhosis, Diarrhea, Hypertriglyceridemia, Hyp... ORPHA:75234
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... OMIM:246200
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Oculogyric crisis, Babinski sign, Parkinsonism, Rigidity, Myoclonus, Gait a... ORPHA:101150
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Ataxia, Dystonia, Lethargy OMIM:246900
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Syndromic X-Linked Intellectual Disability 7
Obesity, Cryptorchidism, Hypogonadism ORPHA:85274
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperlipidemia, Hy... OMIM:248370
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
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination, Obesity OMIM:614947
Neonatal Hemochromatosis
Hypoglycemia, Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Galactosemia
Gait imbalance, Failure to thrive, Ataxia, Action tremor, Primary amenorrhea, Oligomenorrhea, Gai... ORPHA:352
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed puberty, Delayed thelarche, Dorsocervi... OMIM:616033
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hypertonia, Failure to thrive, Ketotic hypoglycemia, Dystonia, Lethargy ORPHA:26792
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia OMIM:617018
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Diab... OMIM:609069
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Difficulty walking, Paralysis, Distal sensory impairment OMIM:613710
Homocystinuria Without Methylmalonic Aciduria
Failure to thrive, Ataxia, Lethargy ORPHA:622
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Amenorrhea, Testicular atrophy, Cholangiocarcinoma,... ORPHA:465508
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Meningioma
Amenorrhea, Enlarged pituitary gland, Impotence, Decreased serum testosterone concentration, Redu... ORPHA:2495
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Infertility, Type II diabetes mellitus, Precocious puberty,... ORPHA:398069
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... ORPHA:95619
Gaisböck Syndrome
Peripheral arterial stenosis, Stroke, Increased hematocrit, Elevated plasma cell count, Hyperprot... ORPHA:90041
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism OMIM:615989
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Obesity, Ataxia, Polyphagia ORPHA:411515
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoglycemia, Jaundice OMIM:617156
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Insulin resistance, Cirrhosis, Dysmenorrhe... ORPHA:79083
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Unsteady gait, Dysphagia OMIM:615945
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirub... OMIM:619868
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Episodic vomiting, Adrenocortical hypoplasia, H... OMIM:307030
Mpi-Cdg
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diarrhea, Vomiting, Hypothyroidis... ORPHA:79319
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... OMIM:620044
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... OMIM:277410
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia ORPHA:254531
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Coma, Confusion, Hemiparesis, Tremor, Drowsiness OMIM:141500
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Flexion contracture, Babinski sign, Tremor, Spasticity OMIM:611105
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Diarrhea, Vomiting, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Endocardial Fibroelastosis
Hypoglycemia, Cryptorchidism, Anterior hypopituitarism ORPHA:2022
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Ataxia, Inability to walk, Waddling gait, Obesity, Lower limb spasticity, Dystonia OMIM:616756
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol c... OMIM:616829
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Insulin resistance, Cir... ORPHA:79086
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Patent ductus arteriosus, Hypercalcemia ORPHA:2123
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Obesity, Polyphagia, Large for gestational age OMIM:248100
Bardet-Biedl Syndrome 9
Polydipsia, Irregular menstruation, Truncal obesity, Polyphagia, Obesity, Hyperglycemia OMIM:615986
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Insulin resistance, Lipoatrophy, Dysmenorrh... ORPHA:2348
Polycythemia Vera
Increased hematocrit, Cerebral hemorrhage, Leukocytosis, Splenomegaly, Increased red blood cell m... OMIM:263300
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Obesity, Pseudoh... OMIM:603233
Rhabdoid Tumor
Anemia, Thrombocytopenia, Irritability, Hypercalcemia ORPHA:69077
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Leukoencephalopathy With Vanishing White Matter
Primary amenorrhea, Gait disturbance, Secondary amenorrhea, Spasticity, Unsteady gait, Primary go... OMIM:603896
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Lipodystrophy, Secondary amenorr... ORPHA:280365
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Flexion contracture, Babinski sign, Parkinsonism, Wrist fle... OMIM:300055
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... ORPHA:251282
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Failure to thrive, Lethargy ORPHA:79283
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bradyphrenia, Apathy, Stroke, Cerebral hemorrhage, Cognitive impairment, Depression, Intracranial... ORPHA:136
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, Decreased tes... OMIM:610628
6Q16 Microdeletion Syndrome
Broad-based gait, Obesity, Polyphagia, Poor coordination ORPHA:171829
Laron Syndrome
Abnormality of the endocrine system, Truncal obesity, Hypoglycemia, Delayed puberty, Hypercholest... ORPHA:633
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Coma... OMIM:607483
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity, Decreased testicular size, Hypogonadism, Cryptorchidism, Prem... ORPHA:261483
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... ORPHA:90674
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Increa... ORPHA:264580
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral artery atherosclerosis, Progressive neurologic deterioration, Gait disturbance, Tremor, ... ORPHA:1192
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Limb fasciculations, Distal sensory impairment, Tremor, Somatic sensory dysfun... ORPHA:90117
Hypophosphatasia
Anemia, Irritability, Hypercalcemia ORPHA:436
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Insuli... OMIM:615381
Narcolepsy Type 1
Excessive daytime somnolence, Obesity, Cataplexy, Slurred speech ORPHA:2073
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes... ORPHA:96184
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Tall stature, Absence of pubertal development, Primary ame... ORPHA:785
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... OMIM:616860
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Ataxia, Bradykinesia, Chorea OMIM:618683
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Obesity, Polyphagia OMIM:613886
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... OMIM:269700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... OMIM:220111
Retinohepatoendocrinologic Syndrome
Maturity-onset diabetes of the young, Infertility, Degenerative liver disease, Hypothyroidism OMIM:268040
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Primary amenorrhea, Impaired glucose tolerance OMIM:615363
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Mitochondrial Complex I Deficiency, Nuclear Type 5
Failure to thrive, Ataxia, Babinski sign, Dysphagia, Dystonia, Lethargy OMIM:618226
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Choreoathetosis, Dystonia, Lethargy, Episodic ataxia OMIM:312170
Severe Canavan Disease
Inability to walk, Decerebrate rigidity, Babinski sign, Spasticity, Lethargy, Oral-pharyngeal dys... ORPHA:314911
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... OMIM:605814
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... OMIM:203800
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dysphagia, Dystonia, ... OMIM:233910
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes ORPHA:3055
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Portal... ORPHA:370
Hypogonadotropic Hypogonadism 27 Without Anosmia
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... OMIM:619755
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Pituitary Stalk Interruption Syndrome
Failure to thrive, Abnormality of the hypothalamus-pituitary axis, Primary amenorrhea, Hypoglycem... ORPHA:95496
Schaaf-Yang Syndrome
Inability to walk, Flexion contracture, Camptodactyly, Polyphagia, Arthrogryposis multiplex conge... OMIM:615547
Central Precocious Puberty
Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Overgrowth, Increased ... ORPHA:759
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothyroidism, Hyperurice... ORPHA:77296
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation ORPHA:217012
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Abnormality of the thyroid gland, Eunuchoid habitus, Decreased testicu... ORPHA:2234
Dopa-Responsive Dystonia
Leg dystonia, Inability to walk, Poor coordination, Abnormality of extrapyramidal motor function,... ORPHA:255
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular ca... ORPHA:369
Developmental And Epileptic Encephalopathy 41
Lethargy, Inability to walk, Spasticity, Flexion contracture OMIM:617105
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Failure to thrive, Lethargy ORPHA:26
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hemochromatosis Type 2
Impotence, Abnormality of endocrine pancreas physiology, Hypogonadism, Diabetes mellitus, Lethargy ORPHA:79230
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Diarrhea, Primary amenorrhea... OMIM:600955
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... ORPHA:2169
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity ORPHA:177910
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Hypothyroidism, Congenital, Nongoitrous, 7
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Lethargy OMIM:618573
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Falls OMIM:615883
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Hyperglycemia OMIM:619737
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Failure to thrive OMIM:610090
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Hypothyroidism, Nausea, Hypercholesterolemia, Hypopituitarism, Hyperglycemia ORPHA:90065
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Diarrhea, Vomiting, Hepatic bridging fibrosis, Adrenal insufficiency, ... OMIM:278000
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin B level, Precocious puberty,... ORPHA:98754
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... ORPHA:276435
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age OMIM:618857
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia, Premature ovarian insufficiency OMIM:615889
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, H... ORPHA:412
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity ORPHA:436141
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... OMIM:616828
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Cirrhosis, Diarrhea,... OMIM:602579
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Recurrent hypoglycemia... ORPHA:79240
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... ORPHA:231720
Glucocorticoid Resistance, Generalized
Hypoglycemia, Infertility, Irregular menstruation OMIM:615962
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin B level, Precocious puberty,... ORPHA:98793
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189427
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin B level, Precocious puberty,... ORPHA:177904
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Coma, Central adrenal insufficiency, Abnorma... ORPHA:54595
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin B level, Precocious puberty,... ORPHA:177901
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia ORPHA:94086
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait, Hypo... OMIM:615768
Hyperprolactinemia
Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia OMIM:615555
Carnitine Deficiency, Systemic Primary
Failure to thrive, Coma, Confusion, Hypoglycemia, Impaired gluconeogenesis, Excessive daytime som... OMIM:212140
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... ORPHA:453533
Erythrocytosis, Familial, 1
Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Increased red blood cell mass, Increased... OMIM:133100
Bardet-Biedl Syndrome 5
Obesity, Hypogonadism OMIM:615983
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus,... OMIM:604360
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Pyruvate Dehydrogenase Deficiency
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Multiple lipomas, Gait disturbance, Tremor, Chor... ORPHA:765
Early Myoclonic Encephalopathy
Dysphagia, Myoclonus, Lethargy ORPHA:1935
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Kleine-Levin Hibernation Syndrome
Episodic hypersomnia, Polyphagia, Confusion OMIM:148840
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paresthesia, Lethargy, Diabetes mellitus ORPHA:49827
X-Linked Intellectual Disability, Hedera Type
Action tremor, Inability to walk, Dysmetria, Extrapyramidal muscular rigidity, Babinski sign, Fre... ORPHA:93952
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Cryptorch... OMIM:175700
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Ataxia, Hypoglycemia, Spasticity, Lethargy ORPHA:2394
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... OMIM:606407
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189439
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Cryptorchidism OMIM:614736
Prader-Willi-Like Syndrome
Central adrenal insufficiency, Primary amenorrhea, Decreased inhibin B level, Abnormality of the ... ORPHA:398073
Propionic Acidemia
Hypoglycemia, Hepatomegaly ORPHA:35
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Failure to thrive, Hepatic steatosis, Hepatomegaly OMIM:619048
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, Failure to thrive, Tetraplegia, Lethargy OMIM:274270
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Increased hepatic ... ORPHA:2088
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Loss of ambulation, Ataxia, Distal sensory impairment, Unsteady gait, Obesity, Impaired pain sens... OMIM:618124
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Ileus, Hyperinsulinemia, Hepatomegaly, Constipation, Flexion contracture, Sple... OMIM:613327
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Man1B1-Cdg
Broad-based gait, Polyphagia, Truncal obesity, Resting tremor ORPHA:397941
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Niemann-Pick Disease, Type B
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... OMIM:607616
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Cortisone Reductase Deficiency 1
Infertility, Oligomenorrhea, Precocious puberty, Obesity OMIM:604931
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Macrocytic anemia, Hypoglycemia, Type I diabetes mellitus, Hyper... ORPHA:199299
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries, Obesity OMIM:184700
Citrullinemia Type I
Torticollis, Failure to thrive, Ataxia, Coma, Ankle clonus, Spasticity, Slurred speech, Lethargy,... ORPHA:247525
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Intracranial hemorrhage, Hypercalcemia, Anemia, Irritability OMIM:241500
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Erythrocytosis, Familial, 2
Stroke, Increased hematocrit, Cerebral hemorrhage, Increased red blood cell mass, Increased hemog... OMIM:263400
Hemochromatosis, Neonatal
Hepatocellular necrosis, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis, Prolonged neonat... OMIM:231100
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Tremor, Chor... OMIM:261640
Gangliocytoma
Abnormality of the pituitary gland, Amenorrhea, Pituitary null cell adenoma, Elevated circulating... ORPHA:251937
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Decreased fertility, Abnormal testis morphology, Hypogonadism ORPHA:2233
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Infertility, Precocious puberty, Central adrenal insufficie... ORPHA:739
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Ataxia, Myoclonus OMIM:618225
Acth Deficiency, Isolated
Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena... OMIM:201400
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Decreased serum testosterone concentration, Cryptorchidism, Small for gestatio... OMIM:300869
Non-Functioning Paraganglioma
Tremor, Panic attack, Cerebral hemorrhage, Hypercalcemia ORPHA:94080
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Hypogonadotropi... OMIM:308750
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
48,Xxyy Syndrome
Motor stereotypy, Infertility, Ataxia, Type II diabetes mellitus, Azoospermia, Inguinal hernia, T... ORPHA:10
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Sheehan Syndrome
Impotence, Constipation, Central adrenal insufficiency, Dyspareunia, Decreased circulating cortis... ORPHA:91355
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Hypothyroidism, Enamel hypoplasia, Hypocalcemic t... OMIM:612462
Laurence-Moon Syndrome
Obesity, Ataxia, Type II diabetes mellitus ORPHA:2377
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Adamantinoma
Hypercalcemia ORPHA:55881
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Glucocorticoid Deficiency 1
Failure to thrive, Tall stature, Decreased circulating cortisol level, Increased circulating ACTH... OMIM:202200
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly OMIM:614741
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Ataxia, Puberty and gonadal disorders, Difficulty walking, Progressive spastic paraplegia, Spasti... ORPHA:464282
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Coma, Cachexia, Hypoglycemia, Distal arthrogryposis, Lethargy, Loss of consciousness ORPHA:42
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Constipation, Hypertriglyceridemia, Hypercholesterolemia, Incre... OMIM:182290
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... ORPHA:363710
Mehmo Syndrome
Obesity, Cryptorchidism, Diabetes mellitus ORPHA:85282
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... OMIM:617253
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Glycine Encephalopathy
Impulsivity, Irritability, Hyperactivity, Hyperglycinemia, Aggressive behavior, Lethargy OMIM:605899
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Myoclonus, Spasticity, Abnormality of extrapyramidal motor function, Lethargy OMIM:614299
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Ankle flexion contracture, Hypoglycemia, Lethargy OMIM:618120
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Gaba-Transaminase Deficiency
Lethargy, Tall stature OMIM:613163
Angelman Syndrome
Broad-based gait, Ataxia, Inability to walk, Recurrent hand flapping, Precocious puberty in femal... ORPHA:72
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Polyp... OMIM:275000
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Fasting ... OMIM:613027
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Hypoalbuminemia, Hypopituitarism, Hepat... OMIM:619013
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Decreased circulating follicle stimu... OMIM:229070
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Failure to thrive, Ataxia, Coma, Delirium, Confusion, Paraplegia, Drowsiness, L... ORPHA:927
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Decreased body weight, Neonatal hypoglycemia, Small for gestational age ORPHA:231140
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralogy of Fallot, Macrocytic a... OMIM:612561
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Failure to thrive, Small for gestational age OMIM:614702
Bardet-Biedl Syndrome 4
Obesity, Cryptorchidism, Hypogonadism OMIM:615982
Riboflavin Deficiency
Hypoglycemia, Lethargy OMIM:615026
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypertriglyceridemia, Hypoglycemia, Hypoalbuminemia, Hypog... OMIM:617575
Familial Pseudohyperkalemia