Gene Summary

Name:
glucagon receptor
Synonyms:
GR

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
abnormal kidney morphology Gcgrtm1.1(KOMP)Vlcg HOM Early adult 0.00
male infertility Gcgrtm1.1(KOMP)Vlcg HOM Early adult 0.00
increased kidney weight Gcgrtm1.1(KOMP)Vlcg HOM   Early adult 1.33×10-15
female infertility Gcgrtm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged kidney Gcgrtm1.1(KOMP)Vlcg HOM Early adult 0.00
increased liver weight Gcgrtm1.1(KOMP)Vlcg HOM   Early adult 4.21×10-05

Download data as:  TSV  XLS

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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
Epididymis  Section images heterozygote 100% (1 of 1)
Vas deferens  Section 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)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 1)
Diaphragm N/A heterozygote 0.0% (0 of 1)
Duodenum N/A heterozygote 0.0% (0 of 1)
Esophagus N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 1)
Harderian gland N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 1)
Kidney N/A heterozygote 0.0% (0 of 1)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 1)
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Olfactory lobe 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 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 1)
Prostate gland N/A heterozygote 0.0% (0 of 1)
Quadriceps N/A heterozygote 0.0% (0 of 1)
Sciatic nerve N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A heterozygote Not available
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 Not available
Stomach N/A heterozygote 0.0% (0 of 1)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 1)
Thymus N/A heterozygote Not available
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
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 1)
White adipose tissue N/A heterozygote Not available
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 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)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 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)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
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)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
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)
quadriceps 0.0%
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 Dorso Ventral

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Hind Leg and Hip

8 Images

Adult LacZ

LacZ Images Section

3 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Increased glucagon level, Glucagonoma, Abnormal biliary tract morphology, Neoplas... ORPHA:438274
Mahvash Disease
Type II diabetes mellitus, Increased glucagon level, Pancreatic alpha-cell hyperplasia, Recurrent... OMIM:619290
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Punctate Palmoplantar Keratoderma Type 1
Hodgkin lymphoma, Renal cell carcinoma, Breast carcinoma, Transitional cell carcinoma of the blad... ORPHA:79501
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Prostate cancer, Ovarian neoplasm, Germ cell neopla... ORPHA:157798
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Familial Melanoma
Abnormal hair morphology, Neoplasm of the breast, Neoplasm of the stomach, Neoplasm of the pancre... ORPHA:618
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Abnormality of the peritoneum, Weight l... ORPHA:83469
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia OMIM:306000
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hepatomegaly, Hypertriglyceride... OMIM:232700
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hurthle cell thyroid adenoma, Hamartoma, Papillary renal cell carcinoma, R... OMIM:145001
Infantile Myofibromatosis
Gingival fibromatosis, Abnormal hair morphology, Chondrocalcinosis, Benign neoplasm of the centra... ORPHA:2591
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Polycystic kidney dysplasia, Re... OMIM:615382
Familial Pancreatic Carcinoma
Peritoneal abscess, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Elevated hepatic... ORPHA:1333
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Lipoatrophy, Polycystic ovaries... ORPHA:280356
RCAD (renal cysts and diabetes)
Diabetes mellitus, Abnormality of the liver DECIPHER:47
Multiple Endocrine Neoplasia Type 4
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:276152
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Short Stature Due To Ghsr Deficiency
Delayed puberty, Hypoglycemia, Decreased body weight, Decreased serum insulin-like growth factor 1 ORPHA:314811
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Familial Colorectal Cancer Type X
Basal cell carcinoma, Benign neoplasm of the central nervous system, Neoplasm of the rectum, Neur... ORPHA:440437
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Exocrine pan... ORPHA:552
Vipoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97282
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Somatostatinoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97283
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Primary... OMIM:612526
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Grfoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97261
Ppoma
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97278
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Cervix cancer, Neoplasm of the rectum, Neoplasm of the nose, Esophageal n... ORPHA:2869
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated hepatic transaminase, Failure to thrive OMIM:614582
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Oligomenorrhea, Hepatic... ORPHA:79085
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Red hair, Pituitary hypothyroid... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Red hair, Pituitary hypothyroid... ORPHA:71526
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, H... ORPHA:2959
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatom... ORPHA:79084
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... OMIM:260370
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabe... ORPHA:435651
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I... OMIM:606721
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Oligomenorrhea, Hepatic... ORPHA:435660
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Von Hippel-Lindau Syndrome
Pulmonary capillary hemangiomatosis, Retinal capillary hemangioma, Pheochromocytoma, Pancreatic c... OMIM:193300
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibrosis, Portal hyperten... OMIM:263200
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Morbid Obesity And Spermatogenic Failure
Infertility, Hypercholesterolemia, Azoospermia, Insulin resistance, Oligospermia, Hepatic steatos... OMIM:615703
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Cholestasis, Hepatomegaly, ... ORPHA:85445
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Zollinger-Ellison Syndrome
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:913
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Familial Adenomatous Polyposis
Abnormal cementum morphology, Thyroiditis, Colorectal polyposis, Adenomatous colonic polyposis, N... ORPHA:733
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Lipodystrophy,... OMIM:604367
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Ovarian cyst, Basal cell carcinoma, Non-Hodgkin lymphoma, Neoplasm of the rectum, Endometrial car... ORPHA:454840
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia,... ORPHA:276575
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, Cholest... OMIM:617156
Glucagonoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97280
Carney Complex
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Osteocho... ORPHA:1359
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Spinal cord tumor, Weight loss, Uterine neoplasm, Jaundice, Neoplasm of the scr... ORPHA:370348
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Failure to thrive, ... OMIM:617872
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Soft tissue neoplasm, Abnormality of the peritoneum, Genital neoplasm, Hypoglyce... ORPHA:2126
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Beckwith-Wiedemann Syndrome
Cryptorchidism, Macroglossia, Neonatal hypoglycemia, Enlarged kidney, Gonadoblastoma, Omphalocele... OMIM:130650
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes mellitus, Chil... ORPHA:71529
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficien... OMIM:262700
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Oligospermia ORPHA:1646
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Hypoglycemia OMIM:616113
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Enlarged kidney, Cholestasis, Hepatomegaly, Hepatic fibrosis, Asplenia OMIM:615415
Peutz-Jeghers Syndrome
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Hamartomatous polyposis, Intestinal ble... OMIM:175200
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility, Hematuria, Pyelonephritis, Enlarged kidney, Albuminuria, Hepatic cysts, P... ORPHA:730
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Failure to thrive OMIM:617950
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Panc... OMIM:208540
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Parathyroid Carcinoma
Parathyroid carcinoma, Chondrocalcinosis, Fibroma, Uterine leiomyoma, Weight loss, Abnormality of... ORPHA:143
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Prolonged neonatal jaundice, Congenit... ORPHA:446
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Retinal capillary hemangioma, Pancreatic cysts, Endolymphatic sac tum... ORPHA:892
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Retinitis Pigmentosa 59
Hepatomegaly, Cryptorchidism, Elevated hepatic transaminase, Failure to thrive OMIM:613861
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Decreased circulating follicle stimulating hormone concentration, Central hypothyroidis... ORPHA:453533
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Hepatomegaly, Inguinal hernia, Nephroblastoma, Femoral hernia, ... ORPHA:2849
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Mitchell-Riley Syndrome
Hyperglycemia, Annular pancreas, Biliary atresia, Intestinal malrotation, Jejunal atresia, Choles... OMIM:615710
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... OMIM:151660
Hyperparathyroidism-Jaw Tumor Syndrome
Chondrocalcinosis, Fibroma, Uterine leiomyoma, Abnormality of the parathyroid morphology, Thyroid... ORPHA:99880
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Reduced subcutaneous adipose tissue, Hype... OMIM:609069
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed puberty, Dorsocervi... OMIM:616033
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Combined Oxidative Phosphorylation Deficiency 52
Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Aminoaciduria, Hypoglycemia, Adrenal insuffi... OMIM:619386
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Elevated hepatic transaminase OMIM:602114
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatocellular carcinoma, Hypoglycemia, Hyperlipidemia, Hepatic fibrosis, Hepatomegaly... ORPHA:369
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Failure to thrive, Hepatic failure OMIM:617049
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Amenorrhea, Hepatic steato... ORPHA:528
Dyskeratosis Congenita
Premature graying of hair, Neoplasm, Neoplasm of the pancreas, Cirrhosis, White hair, Hepatic fai... ORPHA:1775
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Failure to thrive... ORPHA:2470
Pancreatic Agenesis 2
Pancreatic hypoplasia, Small for gestational age, Steatorrhea OMIM:615935
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Infertility, Decreased circulating ACTH level, Amenorrhea, Pituitary hypothyr... ORPHA:95619
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Hypoglycemia ORPHA:2158
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimuation test, Hypoglycemia, Delayed pu... OMIM:300148
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hypothyroidism, Achilles tendon contr... ORPHA:456312
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Elevated circulating alanine aminotransferase concentration... ORPHA:90003
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Hepatic steatosis, Diabetes mellitus, Elevated hepatic transaminase OMIM:610717
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated hepatic transaminase ORPHA:158
Hemochromatosis Type 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hypogonadism, Diabetes mellitus, Abno... ORPHA:79230
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Decreased liver function, Elevated hepatic transaminase, Hypoglycemia OMIM:246900
Mpi-Cdg
Hepatic failure, Congenital hepatic fibrosis, Hypoglycemia ORPHA:79319
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Propionic Acidemia
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hypoglycemia ORPHA:35
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia, Cystinuria, Failure to thrive, Hypogonadism ORPHA:163693
Donohue Syndrome
Ovarian cyst, Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue ... OMIM:246200
Temple Syndrome
Cryptorchidism, Maturity-onset diabetes of the young, Hypercholesterolemia, Overweight, Flexion c... OMIM:616222
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Insulin-resistant diabetes me... OMIM:262190
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Secondary amenorrhea, Increased facial adipose tissue, Insulin resistance, Increased adipose tiss... ORPHA:280365
Glycerol Kinase Deficiency
Cryptorchidism, Adrenocortical hypoplasia, Hypoglycemia, Adrenal insufficiency, Hypertriglyceride... OMIM:307030
Glycogen Storage Disease Iii
Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Elevated circulating creatine kinase concentration,... OMIM:232400
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Ele... ORPHA:263455
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Failure to thrive OMIM:610090
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Glomerular s... OMIM:276700
Cancer-Associated Retinopathy
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... ORPHA:71505
Congenital Bile Acid Synthesis Defect Type 4
Cirrhosis, Biliary tract abnormality, Cholestasis, Hepatomegaly, Type II diabetes mellitus ORPHA:79095
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile ... OMIM:613027
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Panhypopituitarism, Neonatal hypoglycemia, Hypothyroidism, Adrenal insuffi... OMIM:262600
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Hep... OMIM:619048
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatomegaly, Hepatic fibrosis, Stage 5 chronic kidney disease, Sp... OMIM:616217
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Glucose intolerance, Splenomegaly ORPHA:75563
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Elevated circulating acylcarnitine concentration, Failur... ORPHA:26792
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Proteinuria OMIM:614034
Gitelman Syndrome
Maternal diabetes, Graves disease, Glucose intolerance, Insulin resistance, Chondrocalcinosis, Pr... ORPHA:358
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate, Hypoglycemia OMIM:614741
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis, Small for gestational age, Type I diabetes mellitus, Failure to thrive, Diab... OMIM:557000
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Urogenital sinus anomaly, Streak ovary, Female infertility, Perin... ORPHA:261529
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Hepatic steatosis, Impaired gluconeogenesis, Decrease... OMIM:212140
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Hepatic s... ORPHA:363400
Congenital Bilateral Absence Of Vas Deferens
Abnormal renal morphology, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Enlarged kidney, Macrovesicular hepatic steatosis, Hepatomegaly, H... OMIM:608836
Galactose Mutarotase Deficiency
Cholestasis, Hepatomegaly, Decreased liver function, Failure to thrive, Abnormal enzyme/coenzyme ... ORPHA:570422
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Increa... OMIM:600649
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia... OMIM:601346
Premature Ovarian Failure 6
Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Type II diabetes mellitus, Sple... OMIM:616860
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Aminoaciduria, Hypoglycemia, Splenomegaly ORPHA:664
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Small for gestational age, Hypoglycemia, Failure to thrive OMIM:614702
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Elevated circulating growth hormone concentration, Prolactinoma, Increased c... OMIM:131100
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Polycystic ovaries, Se... ORPHA:3085
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased body weight ORPHA:890
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Juvenile Polyposis Syndrome
Hamartomatous stomach polyps, Juvenile gastrointestinal polyposis, Intestinal polyp, Hamartomatou... ORPHA:2929
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Focal segmental glomerulosclerosis, Enlarged kidney, Hepatocellula... OMIM:232200
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Hypoglycemia, Failure to thrive in infancy, Abnormal circulating leucine concentr... ORPHA:6
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Villous atrophy, Protein-losing enteropathy, Hepatic fi... OMIM:602579
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hyponatremia, Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Hyperka... OMIM:614736
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Primary amenorrhea, Decreased testicular size, Hypogonadism, Obesity OMIM:614962
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Jaundice, Hepatic fail... OMIM:619232
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated circulating alkaline phosphatase concentrat... OMIM:616829
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prol... OMIM:214950
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Focal segmental glomerulosclerosis, Enlarged kidney, Hepatocellula... OMIM:232220
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity ORPHA:329249
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Truncal obesity, Delayed puberty, Abnormality of the endocrin... ORPHA:633
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Pancreatic cysts, Umbilical hernia, Cholestasis, Hepatic fibrosis, Hepatomegaly, H... OMIM:610199
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Splenomegaly, Nephrotic syndrome, Proteinuria OMIM:105200
Familial Male-Limited Precocious Puberty
Male infertility, Long penis, Oligospermia ORPHA:3000
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure, Nephrotic syndrome ORPHA:60
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Decreased fertility in females, Hyperinsulinemia, Reduced intr... OMIM:269700
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Atypical scarring of skin, Type II diabetes mellitu... ORPHA:791
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating sebacic acid concentration, Increased serum pyruvate, Elevat... OMIM:615160
Hemochromatosis, Type 2A
Infertility, Cirrhosis, Azoospermia, Amenorrhea, Hepatomegaly, Splenomegaly, Hypogonadotropic hyp... OMIM:602390
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hypogonadism OMIM:613313
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Enlarged kidney, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Hepatic ... OMIM:200995
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Small for gestational age, Neonatal hypoglycemia, Decreased body weight ORPHA:231140
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Decreased fertility in females, Hyperinsulinemia, Reduced intr... OMIM:608594
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated hepatic transaminase, Failure to thrive OMIM:615895
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Retinitis Pigmentosa 71
Elevated hepatic transaminase, Pancreatitis, Obesity OMIM:616394
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia ORPHA:48431
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Aspartic aciduria, Aminoaciduria OMIM:222730
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia ORPHA:231147
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive OMIM:610768
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Lipodystrop... OMIM:615381
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Insulin-resista... ORPHA:79086
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Decreased serum insulin-like growth factor 1, Oli... ORPHA:79239
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Cryptorchidism, Hypoglycemia, Failure to thrive OMIM:618958
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia OMIM:266150
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Glucocorticoid Resistance, Generalized
Irregular menstruation, Infertility, Hypoglycemia OMIM:615962
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Acth Deficiency, Isolated
Fasting hypoglycemia, Adrenal hypoplasia, Decreased circulating cortisol level, Cholestasis, Jaun... OMIM:201400
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Lipodystrophy OMIM:615238
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Aminoaciduria, Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes mellitus, Large for... OMIM:616026
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Hypercholesterolemia, Oligomenorrhea, Irregular menstruation, He... ORPHA:264580
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepati... OMIM:256810
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Hepatomeg... OMIM:616828
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Enlarged kidney, Macrovesicular hepatic steatosis, Renal tubu... OMIM:617303
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Hypoglycemia, Pr... ORPHA:95496
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Failure to thrive ORPHA:67048
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Pyloric stenosis, Jaundice, Ren... ORPHA:93111
Temple Syndrome
Cryptorchidism, Obesity, Small for gestational age, Type II diabetes mellitus, Recurrent hypoglyc... ORPHA:254516
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepatic steatosis... OMIM:613070
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Hepatic failure OMIM:618528
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration ORPHA:79159
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Elevated plasma branched chain amino acids, Hyperisoleucinemia, Hypog... ORPHA:2394
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Failure to thrive ORPHA:289504
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Hep... OMIM:616278
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Elevated circula... OMIM:235555
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Weight loss, ... ORPHA:65682
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Recurrent hypoglycemia, Failure to thrive, Increased circul... OMIM:202200
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Diaphanospondylodysostosis
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney, Abnormal liver lo... OMIM:608022
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Generalized aminoaciduria, Postprandial hyperglycemia, He... ORPHA:2088
Nephrotic Syndrome, Type 14
Cryptorchidism, Hypothyroidism, Hypoglycemia, Adrenal insufficiency, Hypertriglyceridemia, Hypoal... OMIM:617575
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Hereditary Chronic Pancreatitis
Recurrent pancreatitis, Jaundice, Pancreatic calcification, Abnormal enzyme/coenzyme activity, Di... ORPHA:676
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Contractures of the joints of the lower limbs, Weight loss, G... ORPHA:99885
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Distal arthrogry... ORPHA:42
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Cystinuria, Failure to thriv... OMIM:606407
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Abnormal spleen morphology, Metrorrhagia... ORPHA:464329
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, N... ORPHA:199296
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Glucose intolerance, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Hemochromatosis, Type 1
Cirrhosis, Glucose intolerance, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatome... OMIM:235200
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Hypoargininemia, Abnormal circulating threonine con... ORPHA:79096
Pancreatic Agenesis-Holoprosencephaly Syndrome
Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, High... ORPHA:556955
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Preeclampsia
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Polycystic ovaries, Type I... ORPHA:275555
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... ORPHA:90791
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Hypercholesterolemia, Oligomenorrhea, Irregular menstruation, He... ORPHA:370
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Hypothyroidism, Hypoglycemia, Inguinal hernia, Small for gestational age, Dysmeno... ORPHA:397590
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
H Syndrome
Azoospermia, Amenorrhea, Enlarged kidney, Hypogonadism, Hepatosplenomegaly, Micropenis, Abnormali... ORPHA:168569
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Primary amenorrhea, Hypogonadotropic hypogonadism, Reactive... OMIM:600955
Sheehan Syndrome
Pituitary hypothyroidism, Abnormal size of pituitary gland, Obesity, Adrenocorticotropin deficien... ORPHA:91355
17Q12 Microdeletion Syndrome
Cryptorchidism, Diabetes mellitus, Pancreatic aplasia, Elevated hepatic transaminase ORPHA:261265
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Transient hyperlipidemia ORPHA:156
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatomegaly, He... OMIM:261680
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Enlarged kidney ORPHA:251004
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hyperglycinemia, Hypoglycemia, Neonatal death, Failure to thrive, Hypertaurinemia OMIM:245400
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration... ORPHA:361
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Urinary bladder inflammation... ORPHA:449395
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hyperglycinuria OMIM:201450
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Low anterior hairline, Highly arched eyebrow, Microvesicular hepatic steatosis, Increased hepatoc... OMIM:220111
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Steatorrhea, Pancreatic calcification, ... OMIM:167800
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Decreased body weight, Hypoglycemia, Delayed puberty, Small for gestational age, ... ORPHA:391408
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Infertility, Increased circulating cortisol level, Oligospermia... ORPHA:786
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Primary amenorrhea OMIM:615363
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia ORPHA:2089
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Combined Oxidative Phosphorylation Deficiency 40
Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Neonata... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Neonata... OMIM:618839
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoglycemia OMIM:618120
Infantile Liver Failure Syndrome 2
Jaundice, Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia OMIM:616483
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Macroorchidism, Hypog... ORPHA:90790
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated hepatic transaminase, Abnormal liver function tests ... OMIM:147480
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Increased hepatic glycogen content, Tubulointerstitial fibrosis, Enlarged kidney, Irregular menst... ORPHA:79259
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hyperammonemia, Hypoglycemia OMIM:618253
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Neonatal hyperbilirubinemia, Small for gestati... ORPHA:73272
Analbuminemia
Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy, Hypoalbumine... OMIM:616000
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Hepatic steatosis, Elevated circulating glutaric acid concentration, H... OMIM:231680
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Hepatic cysts, Pancreatic cysts, Stage 5 ch... OMIM:614377
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly, Adrenal calcification ORPHA:75234
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Oligomen... ORPHA:95613
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatom... OMIM:607765
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Hypoadrenocorticism, Familial
Adrenal hypoplasia, Hyponatremia, Hypoglycemia, Adrenal insufficiency, Hyperkalemia OMIM:240200
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoglycemia, Failure to thrive OMIM:618329
Smith-Kingsmore Syndrome
Cryptorchidism, Large for gestational age, Hypoglycemia, Umbilical hernia OMIM:616638
Maple Syrup Urine Disease
Elevated plasma branched chain amino acids, Elevated circulating L-alloisoleucine concentration, ... OMIM:248600
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia, Hepatomegaly, Cholestatic liver disease, Failure to thrive ORPHA:5
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alkaline phosphatase... OMIM:613489
Propionic Acidemia
Hyperglycinemia, Hypoglycemia, Hepatomegaly, Hyperglycinuria, Failure to thrive, Pancreatitis, Hy... OMIM:606054
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Abnormality of the liver, Biliary tract abnormality, Cholestasis ORPHA:79168
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Obesity ORPHA:254531
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hypothyroidism, Flexion contracture, Pancreatic fibrosis, Steatorrhea, Hepatic... OMIM:616263
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Hypogly... OMIM:618838
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Enlarged ovaries, Hypothyroidism, Increased circulating... ORPHA:769
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Reduced lysosomal acid ... OMIM:278000
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis OMIM:243300
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Increased serum pyruvate, Splenomegaly, Hyperalaninemia, Failure to thrive... OMIM:619046
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hypoglycemia ORPHA:231137