Gene Summary

Name:
melanocortin 2 receptor accessory protein 2
Synonyms:
N/A

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 fasting circulating glucose level Mrap2tm1a(EUCOMM)Wtsi HOM Early adult 2.40×10-12
abnormal bone structure Mrap2tm1a(EUCOMM)Wtsi HOM Early adult 3.46×10-05
impaired glucose tolerance Mrap2tm1a(EUCOMM)Wtsi HOM Early adult 8.81×10-06
increased circulating insulin level Mrap2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased bone mineral content Mrap2tm1a(EUCOMM)Wtsi HOM Early adult 9.47×10-21
decreased lean body mass Mrap2tm1a(EUCOMM)Wtsi HOM Early adult 8.00×10-20
increased circulating alkaline phosphatase level Mrap2tm1a(EUCOMM)Wtsi HOM Early adult 7.42×10-05
increased red blood cell distribution width Mrap2tm1a(EUCOMM)Wtsi HOM Early adult 1.15×10-05
increased circulating calcium level Mrap2tm1a(EUCOMM)Wtsi HOM Early adult 1.26×10-05
increased total body fat amount Mrap2tm1a(EUCOMM)Wtsi HOM Early adult 1.21×10-20

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Legacy Phenotype Associated Images

View all 69 images

Human diseases caused by Mrap2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mrap2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Hyperinsulinemia, Obesity, Child... ORPHA:71529
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Pituitary... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Pituitary... ORPHA:71526
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior, Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia, Tall stature OMIM:618406
Macrosomia Adiposa Congenita
Obesity, Adrenocortical adenoma, Polyphagia, Large for gestational age OMIM:248100
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia ORPHA:329249
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Polyphagia, Gonadotropin deficiency, Adrenal hypoplasia, Cholestasis, Adre... OMIM:609734
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Polyphagia, Large for gestational age OMIM:617119
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Leptin Receptor Deficiency
Polyphagia, Pituitary hypothyroidism, Abnormal eating behavior, Diabetes mellitus, Hypergonadotro... OMIM:614963
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia ORPHA:369873
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Polyphagia, Focal pancreatic islet hyperplasia, Excessive insulin response to gluca... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Polyphagia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276580
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... ORPHA:293964
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Maternal diabetes, Small for gestational age, Polyphagia, Maturity-onset diabetes o... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Type II diabetes mellitus, Elevated hepatic iron concentration, Erythroid hyperplasi... OMIM:616860
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia, Bone cyst, Hyperparathyroidism ORPHA:2668
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:66628
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Polyphagia, Excessive insulin response to glucagon test, Hyperinsulinemic hypoglyce... ORPHA:276556
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Hypogonadotropic hypogonadism, Polyphagia ORPHA:177910
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:179494
Blue Diaper Syndrome
Hypercalcemia, Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyro... ORPHA:94086
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes mellitus OMIM:615980
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Osteoporosis, Delayed thelarche, Delayed pu... OMIM:616033
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus at puberty, Red... ORPHA:280356
Familial Isolated Hyperparathyroidism
Elevated circulating parathyroid hormone level, Hypercalcemia, Chondrocalcinosis, Hypophosphatemi... ORPHA:99879
Hyperparathyroidism 4
Hypercalcemia, Primary hyperparathyroidism, Parathyroid carcinoma, Osteopenia OMIM:617343
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Temple Syndrome
Type II diabetes mellitus, Small for gestational age, Polyphagia, Obesity, Decreased response to ... ORPHA:254516
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia OMIM:606762
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy... OMIM:612526
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Truncal obesity, Delayed puberty ORPHA:140941
Schaaf-Yang Syndrome
Failure to thrive in infancy, Polyphagia, Arthrogryposis multiplex congenita, Hypogonadism, Flexi... OMIM:615547
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Osteopenia OMIM:615363
Carcinoma Of Esophagus
Weight loss, Dysphagia, Gastroesophageal reflux, Obesity ORPHA:70482
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Maternal diabetes, Loss of subcutaneous adipose tissue i... OMIM:604367
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Abnormality of the pancreatic islet cells... ORPHA:97279
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Osteoporosis, Hypercholesterolem... OMIM:610947
Type 1 Diabetes Mellitus
Polyphagia, Diabetes mellitus, Polydipsia OMIM:222100
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Polyphagia, Tall stature, Insulin-resistant diabetes mellitus at puberty, Reduced i... OMIM:608594
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Hypercalcemia, Calvarial osteosclerosis, Osteopen... OMIM:617994
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Graves Disease, Susceptibility To, 1
Weight loss, Goiter, Graves disease, Polyphagia OMIM:275000
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level OMIM:206200
6Q16 Microdeletion Syndrome
Obesity, Polyphagia ORPHA:171829
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Polyphagia ORPHA:411515
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Hypercalcemia, Neoplasm of the thymus, Increased circulating cortisol le... ORPHA:97289
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Polyphagia, Tall stature, Insulin-resistant diabetes mellitus at puberty, Reduced i... OMIM:269700
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Diabetes mellitus OMIM:613877
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Chromosome Xq26.3 Duplication Syndrome
Overgrowth, Increased serum insulin-like growth factor 1, Polyphagia, Tall stature, Pituitary ade... OMIM:300942
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal obesity OMIM:618160
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Hypercalcemia, Hypoglycemia, Normocytic anemia, Macrocytic anem... ORPHA:199299
Summitt Syndrome
Obesity OMIM:272350
Bardet-Biedl Syndrome 9
Obesity, Polydipsia, Truncal obesity, Polyphagia OMIM:615986
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Hypophosphatasia
Hypercalcemia, Failure to thrive in infancy, Craniosynostosis, Anemia ORPHA:436
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas, Constipation OMIM:103200
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Adamantinoma
Hypercalcemia ORPHA:55881
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Hypophosphatemic Rickets And Hyperparathyroidism
Elevated circulating parathyroid hormone level, Hypercalcemia, Rickets, Hypophosphatemia, Hyperpa... OMIM:612089
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... OMIM:618858
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Vomiting, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepatic s... OMIM:617872
Vitamin D-Dependent Rickets, Type 3
Elevated circulating parathyroid hormone level, Hypophosphatemia, Osteopenia, Hypocalcemia OMIM:619073
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic seizures, Hypoca... OMIM:618883
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Anemia, Thrombocytopenia ORPHA:2123
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Polyphagia, Hypergonado... OMIM:606407
Pediatric-Onset Graves Disease
Hepatomegaly, Increased circulating T4 level, Polydipsia, Goiter, Failure to thrive, Polyphagia, ... ORPHA:525731
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Polyphagia,... ORPHA:300373
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Congenital Generalized Lipodystrophy
Precocious puberty in females, Bone cyst, Insulin resistance, Failure to thrive, Lipodystrophy, A... ORPHA:528
Morbid Obesity And Spermatogenic Failure
Obesity, Type II diabetes mellitus, Hepatic steatosis OMIM:615703
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Secondary Short Bowel Syndrome
Central hypothyroidism, Polyphagia, Vomiting, Failure to thrive, Weight loss, Primary hypothyroid... ORPHA:95427
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, ... ORPHA:435651
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Insulin-resistant diabetes mellitus, Lipodystrophy, Hepatic steatosis, Decreased ad... ORPHA:79085
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Reduced bone mineral density, Osteopenia OMIM:619489
Rhabdoid Tumor
Hypercalcemia, Weight loss, Anemia, Thrombocytopenia ORPHA:69077
Addison Disease
Androgen insufficiency, Hypoglycemia, Adrenal hypoplasia, Type I diabetes mellitus, Increased cir... ORPHA:85138
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Failure to thrive in ... ORPHA:231226
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Parathyroid Carcinoma
Hypercalcemia, Parathyroid carcinoma, Hyperparathyroidism OMIM:608266
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, ... ORPHA:435660
Ddost-Cdg
Failure to thrive, Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Elevated hepatic tra... ORPHA:300536
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:608600
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diab... OMIM:606176
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Reduced bone mineral density, Splenomegaly, Hypocalcemia ORPHA:172
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Pick Disease Of Brain
Polyphagia OMIM:172700
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Narcolepsy Type 1
Obesity ORPHA:2073
Frontotemporal Dementia
Polyphagia OMIM:600274
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Fa... ORPHA:2298
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Hypercalcemia, Hypoglycemia, Increased circulating cortisol level, Insuli... OMIM:131100
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Hepatic steatosis OMIM:615238
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalcemic seizures, Pseud... ORPHA:94090
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Polyphagia, Fai... ORPHA:98754
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... OMIM:300908
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Fibrous Dysplasia Of Bone
Hypercalcemia, Precocious puberty in females, Thyroid carcinoma, Thin bony cortex, Rickets, Fibro... ORPHA:249
Huntington Disease
Polyphagia, Decreased body mass index, Choking episodes, Weight loss, Oral-pharyngeal dysphagia ORPHA:399
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Abnormal circulati... ORPHA:263455
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Polyphagia, Fai... ORPHA:98793
Infantile Myofibromatosis
Hypercalcemia, Bone cyst, Chondrocalcinosis, Osteolysis ORPHA:2591
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... OMIM:203330
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
2P21 Microdeletion Syndrome
Hypogonadism, Hypoglycemia, Failure to thrive, Hypocalcemia ORPHA:163693
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Polyphagia, Fai... ORPHA:177904
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... OMIM:151660
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Hypophosphatasia, Infantile
Hypercalcemia, Decreased calvarial ossification, Failure to thrive, Unossified vertebral bodies, ... OMIM:241500
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Polyphagia, Fai... ORPHA:177901
Cebalid Syndrome
Congenital diaphragmatic hernia, Polyphagia OMIM:618774
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia, Hyperparathyroidism OMIM:239199
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia ORPHA:791
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Adenocarcinoma Of The Esophagus
Obesity, Gastroesophageal reflux ORPHA:99976
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Abnormal dental enamel morphology, Delayed puberty, Polyphagia ORPHA:251004
Acute Adrenal Insufficiency
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Androgen insufficiency, Hypo... ORPHA:95409
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Flexion contracture, Hypocalcemia OMIM:615883
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Decreased response to growth hormone stimulation test, Adrenal hypoplasia OMIM:614732
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Primary hyperparathyroidism, Hypermagnesemia,... OMIM:600740
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, W... ORPHA:398063
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Neuroendocrine neopla... ORPHA:913
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Osteoporosis, Delayed epiphyseal ossificati... ORPHA:785
Vipoma
Adrenocortical adenoma, Hypercalcemia, Hypokalemia, Increased circulating cortisol level, Weight ... ORPHA:97282
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Failure to thrive, Premature adren... ORPHA:398079
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Polyphagia, Fai... ORPHA:398073
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hypercholesterolem... ORPHA:79237
Luscan-Lumish Syndrome
Obesity, Overgrowth, Polyphagia OMIM:616831
Central Precocious Puberty
Overgrowth, Increased circulating gonadotropin level, Isosexual precocious puberty, Premature the... ORPHA:759
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Obesity, ... OMIM:603233
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Hypercalcemia, Calcinosis, Failure to thrive, Hyp... OMIM:239200
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia ORPHA:3085
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Chronic constipation, Type II diabetes mellitus, Polyphagia, Failure to t... ORPHA:398069
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus, Flexion contracture OMIM:618856
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Prader-Willi Syndrome
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Vomiting, Failure to thrive, P... ORPHA:739
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy ORPHA:79087
Rh Deficiency Syndrome
Hemolytic anemia, Reduced haptoglobin level, Macrocytic anemia, Hypochromia, Stomatocytosis, Hype... ORPHA:71275
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Diabetes mellitus OMIM:610717
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Chondrocalcinosis, Primary hyperparathyroidism, Hypermagnesemia, Multiple lipomas OMIM:145981
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Parathyroid carcinoma, Hurthle cell thyroid adenoma, Hyperparathyroidism, Parathyr... OMIM:145001
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Hypophosphatemia, Abnormal bone structure, Coarse metaphyseal trabecularization, Abnor... ORPHA:93160
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Oral-pharyngeal dysphagia, Obesity, Lipoma ORPHA:480907
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Congenital hypothyroidism, Constipation, Increased body mass index, Increased T3/T4 ... OMIM:614450
Somatostatinoma
Adrenocortical adenoma, Hypercalcemia, Hypochromic microcytic anemia, Increased circulating corti... ORPHA:97283
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Dysphagia, Elevated hepatic transaminase OMIM:264470
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus OMIM:601410
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Dysphagia, Failure to thrive, Lipodystrophy, Splenomegaly, Hepatic steatosis, Flexi... OMIM:613327
Immunodeficiency 61
Obesity OMIM:300310
Pseudohypoparathyroidism Type 1B
Elevated circulating parathyroid hormone level, Increased bone density with cystic changes, Hypoc... ORPHA:94089
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosp... ORPHA:405
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... OMIM:616959
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Hypogonadism, Truncal obesity ORPHA:261483
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Portal hyper... OMIM:278000
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c OMIM:610582
Hypoparathyroidism, Familial Isolated, 1
Decreased circulating parathyroid hormone level, Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia OMIM:146200
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Congenital hypoparathyroidism, H... ORPHA:93324
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypoparathyroidism, Hip contracture, Hypophosphatemia, Knee flexion contracture, O... OMIM:156400
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Polyphagia, H... ORPHA:54595
Mehmo Syndrome
Small for gestational age, Male hypogonadism, Obesity, Decreased response to growth hormone stimu... OMIM:300148
Glucagonoma
Adrenocortical adenoma, Hypercalcemia, Acanthocytosis, Increased circulating cortisol level, Weig... ORPHA:97280
X-Linked Sideroblastic Anemia
Glucose intolerance, Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Weight loss, Hypercalcemia, Paraganglioma ORPHA:94080
Halothane Hepatitis
Viral hepatitis, Obesity, Hepatitis, Jaundice OMIM:234350
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Hemochromatosis, Type 4
Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin saturation, Increas... OMIM:606069
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis, Congenital hypothyroidism ORPHA:88643
Prader-Willi Syndrome
Failure to thrive in infancy, Adrenal insufficiency, Type II diabetes mellitus, Polyphagia, Hypog... OMIM:176270
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Hypophosphatemic Rickets
Elevated circulating parathyroid hormone level, Hypercalcemia, Rickets, Failure to thrive, Fibrou... ORPHA:437
2Q23.1 Microdeletion Syndrome
Constipation, Polyphagia ORPHA:228402
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Osteomalacia ORPHA:89937
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Dorsocervical f... ORPHA:189439
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty ORPHA:141333
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Cholecystitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstr... ORPHA:69663
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Flexion contrac... OMIM:616222
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Failure to thrive, Truncal obesity, Hypogonadism, ... ORPHA:181393
Oculocerebrodental Syndrome
Hypercalcemia, Enamel hypoplasia, Hypocalcemia ORPHA:557003
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Failure to thrive, Decreased liver function, Hepatic steatosis, Gastroesophageal reflux ORPHA:70472
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellitus, Flexion contract... OMIM:615381
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Peritonitis, Elevated hepatic iron c... ORPHA:139507
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Truncal obesity, Amelogenesis imperfecta, Obesity, Inguinal hernia OMIM:618363
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis ORPHA:436182
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss, Infantile hypercalcemia OMIM:143880
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Hypocalcemic seizures, Parathyroid agenesis, Hypomagnesemia, Hypoc... ORPHA:2239
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Polyphagia, Enamel hypoplasia, Pseudohypoparathyr... ORPHA:79444
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Cachexia, Vomiting, Nausea, Hypogonadotropic hypogonadism, Weight loss, Cirrhosis, Mac... ORPHA:298
Angelman Syndrome
Dysphagia, Precocious puberty in females, Polyphagia, Vomiting, Obesity, Delayed menarche, Gastro... ORPHA:72
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Failure to thrive, Cirrhosis, Cholestasis, Hepatic failure, Ele... OMIM:617156
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Hypercalcemia, Thyroid carcinoma, Parathyroid car... ORPHA:143
Donohue Syndrome
Fasting hypoglycemia, Hyperglycemia, Adipose tissue loss, Precocious puberty, Pancreatic islet-ce... OMIM:246200
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Femoral hernia ORPHA:2849
Oculoskeletodental Syndrome
Hypercalcemia, Small for gestational age, Splenomegaly, Hypothyroidism, Hypocalcemia, Elbow flexi... OMIM:618440
Gangliocytoma
Abnormal prolactin level, Polyphagia, Abnormality of the pituitary gland, Pituitary prolactin cel... ORPHA:251937
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypocalcemia, Incre... OMIM:601198
Cubitus Valgus With Mental Retardation And Unusual Facies
Truncal obesity OMIM:300471
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Vomiting, Macrovesicular hepatic steatosis, Acute... OMIM:613070
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Thrombocytosis, Type II diabetes mellitus, Hypoglycemia, Hypokalemia... ORPHA:88673
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis ORPHA:26792
Alpha-Heavy Chain Disease
Splenomegaly, Anemia, Hypocalcemia ORPHA:100025
Cortisone Reductase Deficiency 1
Obesity, Precocious puberty OMIM:604931
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Pancreatitis, Splenome... ORPHA:2348
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Obesity, Type II diabetes mellitus ORPHA:2377
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Failure to thrive, Hepatic steatosis, Elevated circulating alanine aminotransferase... OMIM:619048
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Hyperparathyroidism-Jaw Tumor Syndrome
Elevated circulating parathyroid hormone level, Hypercalcemia, Thyroid carcinoma, Chondrocalcinos... ORPHA:99880
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:144600
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hyperactive renin-angiotensin system, Chondrocalcinosis, Hypokalemia, Small for ge... OMIM:601678
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Mastocytosis
Hypercalcemia, Acute leukemia, Chronic leukemia, Osteoporosis, Splenomegaly, Mastocytosis ORPHA:98292
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Anem... ORPHA:29073
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormal circulating ... ORPHA:71212
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Decreased liver function, Hepatic steatosis, Cholestasis, Ele... OMIM:614300
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis... ORPHA:905
Mental Retardation With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy OMIM:613670
Glucose-Galactose Malabsorption
Failure to thrive, Hypercalcemia, Weight loss, Hypernatremia ORPHA:35710
Fryns Macrocephaly
Truncal obesity, Knee flexion contracture OMIM:600302
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Vomiting, Elevated hepatic transaminase, Failure ... OMIM:256810
Subaortic Stenosis-Short Stature Syndrome
Obesity, Biliary tract abnormality, Type II diabetes mellitus, Inguinal hernia ORPHA:3191
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Kenny-Caffey Syndrome, Type 1
Congenital hypoparathyroidism, Anemia, Calvarial osteosclerosis, Hypomagnesemia, Decreased skull ... OMIM:244460
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Splenomegal... OMIM:259700
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Thin bony cortex, Hypocalcemic seizures, Rickets,... ORPHA:289157
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... ORPHA:79083
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Trisomy 18P
Polyphagia ORPHA:1715
Adrenomyodystrophy
Primary adrenal insufficiency, Hepatic steatosis, Pituitary corticotropic cell adenoma, Constipat... OMIM:300270
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Lipo... ORPHA:280365
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia, Parathyroid adenoma, Hyperparathyroidism OMIM:145980
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Reduced bone mineral... ORPHA:652
Orotic Aciduria
Hypochromia, Failure to thrive, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic... OMIM:258900
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Small for gestational age, Episodic vomiting, Insulin-resistant ... ORPHA:2959
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Elevated hepat... OMIM:301045
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Scarring, Leukopenia, Erythroid hyper... ORPHA:79277
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Polyphagia, Enamel hypoplasia, Pseudohypoparathyr... ORPHA:79443
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Vomiting, Failure to thrive, Depletion of mitochondrial DN... OMIM:251880
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Hypogonadism, Abdominal obes... OMIM:300869
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism, Hypoalbuminemia ORPHA:79319
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Hepatomegaly, Vomiting, Decreased liver function, Hepatic steato... ORPHA:42
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Chronic diarrhea, Hepatic steatosis, El... OMIM:618805
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia, Pseudohypoparathyroidism OMIM:612463
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hypocalcemic seizures, Increased bone mineral... ORPHA:36913
Alstrom Syndrome
Decreased HDL cholesterol concentration, Diabetes insipidus, Insulin-resistant diabetes mellitus,... OMIM:203800
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Ppoma
Adrenocortical adenoma, Hypercalcemia, Increased circulating cortisol level, Weight loss, Increas... ORPHA:97278
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Dysphagia OMIM:604360
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Rickets, Failure to thrive, Iron deficiency anemia, Weight los... OMIM:212750
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Vomiting, Hepatocellular carcinoma, Decreased body mass index, Pa... ORPHA:247585
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly, Hypocalcemia OMIM:619658
Nephronophthisis 15
Obesity, Hepatic failure OMIM:614845
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Vomiting, Failure to thrive, Hepatic steatosis,... OMIM:212140
Timothy Syndrome
Hypoglycemia, Hypothyroidism, Hypocalcemia OMIM:601005
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:616829
Primary Lipodystrophy
Type II diabetes mellitus, Lipodystrophy, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosi... ORPHA:90970
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Abcd Syndrome
Large for gestational age OMIM:600501
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Vomiting, Nausea, Failure to thrive, Hepatic fibrosis, Hepatocellu... ORPHA:264580
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Anemia, Abnormal leukocyte morphology, Hypocalcemia ORPHA:53
Monosomy 13Q34
Obesity, Infantile hypercalcemia, Insulin resistance ORPHA:96168
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus OMIM:610628
Autism, Susceptibility To, 18
Overweight, Tall stature OMIM:615032
Morm Syndrome
Truncal obesity ORPHA:75858
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Summitt Syndrome
Obesity, Camptodactyly of finger, Tall stature ORPHA:3210
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
48,Xxyy Syndrome
Type II diabetes mellitus, Tall stature, Abnormal dental enamel morphology, Hypergonadotropic hyp... ORPHA:10
Grfoma
Adrenocortical adenoma, Pheochromocytoma, Hypercalcemia, Neoplasm of the thymus, Increased circul... ORPHA:97261
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Pheochromocytoma OMIM:171420
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Anemia, Hyperbilirubinemia, Decreased osteoclast count, Splenomegaly, Extramedulla... OMIM:259720
Senior-Loken Syndrome 9
Hypogonadism, Obesity, Hepatic fibrosis, Cholestasis OMIM:616629
Trisomy 5P
Obesity ORPHA:1742
Adnp Syndrome
Polyphagia, Vomiting, Inguinal hernia, Truncal obesity, Oral-pharyngeal dysphagia, Gastroesophage... ORPHA:404448
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insuli... ORPHA:769
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Anisocytosis, Chronic hemolytic anemia, Poikilocytosis, Reticulocytosis, Decre... OMIM:618278
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Small for gestational age, Thickened cortex of long bones, Anemia, Increased ... OMIM:127000
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal dental enamel morphology, Abnormal calcium-phosphate regulating horm... ORPHA:2238
Proprotein Convertase 1/3 Deficiency
Obesity, Hypogonadotropic hypogonadism, Diarrhea, Decreased circulating cortisol level OMIM:600955
Retinopathy, Pigmentary, And Mental Retardation
Hypogonadism, Truncal obesity OMIM:268050
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransfe... OMIM:619386
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Hepatic steatosis, Choleste... ORPHA:209902
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Hypercalcemia, Extraadrenal pheochromocytoma, Weight loss, Paragangliom... ORPHA:276621
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Anemia, Increase... ORPHA:230
Infantile Liver Failure Syndrome 1
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... OMIM:615438
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Hypogonadism, Enamel hypoplasia, Pseudohypoparath... OMIM:612462
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty ORPHA:254531
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Vomiting, Hypergonadotropic hypogonadism, Failure to thrive, Abno... OMIM:212065
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia OMIM:156200
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Vomiting, Hepatic fibrosis, Failure to thrive, Hepatocellular carc... ORPHA:370
13Q12.3 Microdeletion Syndrome
Vomiting, Failure to thrive, Congenital diaphragmatic hernia, Camptodactyly, Obesity, Constipation ORPHA:412035
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Congenital hypoparathyroidism, Hypocalcemic seizures, Patchy osteosclerosis, Hypocalcemia, Decrea... OMIM:241410
7Q11.23 Microduplication Syndrome
Polyphagia, Congenital diaphragmatic hernia, Obesity, Inguinal hernia, Chronic constipation ORPHA:96121
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Precocious puberty ORPHA:254525
Insulin-Like Growth Factor I, Resistance To
Increased serum insulin-like growth factor 1, Lipodystrophy, Reduced subcutaneous adipose tissue,... OMIM:270450
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Dorsocervical fat pad, Increased circulating corti... OMIM:615830
Rafiq Syndrome
Obesity, Truncal obesity, Flexion contracture OMIM:614202
X-Linked Agammaglobulinemia
Neutropenia, Failure to thrive, Weight loss, Anemia, Hypocalcemia, Thrombocytopenia, Cellulitis ORPHA:47
Bardet-Biedl Syndrome 21
Elevated hepatic transaminase, Obesity, Overweight OMIM:617406
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Cholestasis, Macrovesicular hepatic steatosis OMIM:614924
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Polydipsia, Polyphagia, Elevated hepatic transaminase, Premature adrenarc... ORPHA:293987
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Hypocalcemia OMIM:179800
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Hypercalcemia, Extraadrenal pheochromocytoma, Weight loss, Paragangliom... ORPHA:29072
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Constipation ORPHA:441
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypogonadism, Enamel hypoplasia, Pseudohypoparath... OMIM:103580
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypoparathyroidism, Craniosynostosis, Osteopenia, Hypertriglyceridemia, Obesity, P... ORPHA:369837
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Clark-Baraitser Syndrome
Obesity OMIM:617752
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Porphyria Cutanea Tarda
Scarring, Elevated hepatic iron concentration, Hepatocellular carcinoma, Corneal scarring, Chroni... ORPHA:101330
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Idiopathic Intracranial Hypertension
Obesity, Vomiting, Nausea ORPHA:238624
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Disproportionate tall stature, Tall stature, Failure to thrive, Pancreatitis, Hepatic steatosis, ... OMIM:236200
Chylomicron Retention Disease
Vomiting, Failure to thrive, Increased hepatocellular lipid droplets, Hepatic steatosis, Steatorr... ORPHA:71
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Eunuchoid habitus, Hypogonadism, Abnormality of the thyroid gland, Obe... ORPHA:2234
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Increased body weight, Jaundice ORPHA:890
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... OMIM:610489
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Failure to thrive, Hepatic steatosis, Elevated circulating alanine aminotransferase... OMIM:614582
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Steatorrhea, Diabetes melli... OMIM:616263
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis, Primary adrenal insufficiency ORPHA:977
Paragangliomas 1
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Chemode... OMIM:168000
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Knee flexion contracture, Hepatic steatosis, H... ORPHA:79322
1P36 Deletion Syndrome
Abnormality of the spleen, Dysphagia, Polyphagia, Annular pancreas, Failure to thrive, Hypogonadi... ORPHA:1606
Urban-Rogers-Meyer Syndrome
Hypogonadism, Obesity, Flexion contracture of toe, Camptodactyly of finger ORPHA:3409
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Obesity, Precoc... ORPHA:96184
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:369840
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Hypercalcemia, Pheochromocytoma, Reduced subcutan... ORPHA:653
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hepatic steatosis, Hypothyroidism, Obesity, Precocious puberty ORPHA:254346
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Congenital hypothyroidism, Diabetes mellitus OMIM:614613
Chung-Jansen Syndrome
Obesity OMIM:617991
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Polydipsia, Abnormality of the hypothalamus-pituitary axis... ORPHA:3157
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Failure to thrive in infancy, Cachexia, Neutropenia, Reduced proporti... ORPHA:37042
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity, Puberty and gonadal disorders ORPHA:464282
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Chemodectoma, Elevated circulating catec... OMIM:605373
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Diabetes mellitus, Hypothyroidism, Abnormality of the thyroi... ORPHA:77296
Perrault Syndrome 4
Disproportionate tall stature, Hypoplasia of the ovary, Decreased serum estradiol, Increased circ... OMIM:615300
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Weight loss, Anemia, Hypomagnesemia, Reduced proportion of CD4+... ORPHA:90362
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic failure, Obesity OMIM:615630
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absence of secondary sex char... ORPHA:2235
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, Cirrhosis, Hepatic steatosis, Elevat... OMIM:615486
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Vomiting, Increased hepatic glycogen ... OMIM:614921
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Obesity, Male hypogonadism, Flexion contracture, Wrist flexion contracture OMIM:300055
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypoketotic hypoglycemia, Small for gestational age, Elevated circulating creati... ORPHA:26793
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Anemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Baralle-Macken Syndrome
Obesity OMIM:619255
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
15Q24 Microdeletion Syndrome
Small for gestational age, Failure to thrive, Congenital diaphragmatic hernia, Hernia, Obesity, D... ORPHA:94065
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome