banner
Genes Phenotypes Help, News, Blog

Gene: Terf2ip MGI:1929871

Log in to follow

Gene Summary

Name:
telomeric repeat binding factor 2, interacting protein
Synonyms:
Rap1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
scaly skin Terf2ipem1(IMPC)Mbp HOM Early adult 0.00
decreased red blood cell distribution width Terf2ipem1(IMPC)Mbp HOM   Early adult 8.30×10-05
impaired glucose tolerance Terf2ipem1(IMPC)Mbp HOM   Early adult 8.55×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

120 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

40 Images

View images

Human diseases caused by Terf2ip 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 Terf2ip by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Melanoma
Dry skin ORPHA:618

The table below shows human diseases predicted to be associated to Terf2ip by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Hyper... ORPHA:280356
Peeling Skin Syndrome 5
Epidermal acanthosis, Scaling skin OMIM:617115
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Lipoatrophy,... ORPHA:79084
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:71526
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis, Hypercholesterolemia, ... OMIM:615703
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hyperlipidemia, Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes... OMIM:615980
Peeling Skin Syndrome 3
Erythema, White scaling skin OMIM:616265
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity, Hepatic steatosis, Overgrowth, Red hair OMIM:620195
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lipoatrophy, Generalized hirsutism ORPHA:79087
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Loss of truncal subcutaneous adipose tissue... OMIM:608709
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hypertrichosis, Hyperinsuli... ORPHA:528
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... ORPHA:324575
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic... OMIM:615631
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Scaling skin OMIM:113800
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:151660
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Ichthyosis Hystrix, Curth-Macklin Type
Scaling skin OMIM:146590
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Erythema, Scaling skin, Palmoplantar scaling skin, Dry skin ORPHA:530838
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Scaling skin OMIM:617571
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis OMIM:615028
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis OMIM:612908
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl... OMIM:617885
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Low anterior hairline, Delayed puberty, Hyperinsulinemi... OMIM:616033
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity ORPHA:281127
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... OMIM:606762
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Mandibuloacral Dysplasia
Insulin resistance, Alopecia, Increased subcutaneous truncal adipose tissue, Increased circulatin... ORPHA:2457
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity OMIM:618406
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Acral Peeling Skin Syndrome
Erythema, Excessive wrinkling of palmar skin, Scaling skin ORPHA:263534
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Failure to thrive, Re... OMIM:620357
Psoriasis 2
Epidermal acanthosis, Scaling skin OMIM:602723
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis OMIM:615598
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Splenomegaly, Generalized hirsutism, Lipodystr... ORPHA:2348
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity ORPHA:369873
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Dry skin, Epidermal acanthosis, Cutis laxa, Scaling skin ORPHA:2269
Verrucous Hemangioma
Epidermal acanthosis ORPHA:464318
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... ORPHA:79086
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive OMIM:601410
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin, Thrombocytopenia OMIM:612952
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... OMIM:616860
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for... ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormon... OMIM:617872
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Ichthyosis, Congenital, Autosomal Recessive 5
Epidermal acanthosis, White scaling skin, Acanthocytosis OMIM:604777
Idiopathic Localized Lipodystrophy
Erythema, Scaling skin ORPHA:90158
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Hypertrichosis, Cholestasis, Hy... OMIM:246200
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decrease... OMIM:608612
Ichthyosis Vulgaris
Dry skin, Absent keratohyalin granules OMIM:146700
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Peeling Skin Syndrome 4
Epidermal acanthosis, Scaling skin OMIM:607936
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Peeling Skin Syndrome 6
Dry skin, Scaling skin OMIM:618084
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Overgrowth, Lipodystrophy, Increased adipose tissue ORPHA:199276
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, Ta... OMIM:608594
Perlman Syndrome
Abnormal pancreas morphology, Tall stature, Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Femo... ORPHA:2849
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoketotic hypoglycemia, Hy... ORPHA:263455
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Epidermal acanthosis OMIM:617526
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Hepa... ORPHA:79237
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Ichthyosis, Annular Epidermolytic, 2
Erythema, Scaling skin OMIM:620148
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H... OMIM:619048
Hemochromatosis, Type 4
Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitus, Impaired gluc... OMIM:606069
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Increa... ORPHA:280365
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Failure to thrive ORPHA:26792
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Incre... ORPHA:189427
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Sparse scalp hair, Increased adipose tissue around the neck, Increased facial adipose t... OMIM:248370
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... OMIM:616222
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Sparse body hair ORPHA:85274
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... OMIM:613327
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Tall stature, Hyperins... OMIM:269700
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Pr... ORPHA:300536
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Thick eyebrow OMIM:309585
Ichthyosis With Erythrokeratoderma
Erythema, Epidermal acanthosis, Scaling skin OMIM:620507
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Flexion contracture, Hyperglycemia OMIM:618856
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
X-Linked Sideroblastic Anemia
Anemia, Glucose intolerance, Pallor, Splenomegaly ORPHA:75563
Hypotrichosis Simplex Of The Scalp
Epidermal acanthosis, Scaling skin ORPHA:90368
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Pallor, Anisocytosis, Poikilo... ORPHA:98870
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Abdominal obesity, Prolonged neonatal jaundice, Sparse hair, Neonatal hypoglycem... ORPHA:631
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Bazex Syndrome
Anemia, Scaling skin ORPHA:166113
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Peeling Skin Syndrome 1
Eosinophilia, Scaling skin OMIM:270300
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Intellectual Developmental Disorder, X-Linked 97
Obesity, Synophrys OMIM:300803
Familial Reactive Perforating Collagenosis
Abnormal epidermal morphology ORPHA:79147
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Short Syndrome
Insulin resistance, Alopecia, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, ... ORPHA:3163
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hypercholesterolemia, Hepatic steatosis,... OMIM:616829
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... OMIM:300148
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Epidermal acanthosis, Scaling skin OMIM:612281
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... OMIM:214150
Intellectual Developmental Disorder, X-Linked 91
Low posterior hairline, Obesity OMIM:300577
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Dorsocervical fat pad, Primary hypercortisolism, ... OMIM:615830
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased response to growth hormone stimulation test, Obesity, Adrenal insufficienc... OMIM:609734
Centrifugal Lipodystrophy
Erythema, Scaling skin ORPHA:90156
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Glucose intoleranc... ORPHA:785
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Hepatosplenomegal... OMIM:606367
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Scaling skin, Dry skin OMIM:614457
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Low anterior hairline, Low pos... ORPHA:73272
Mpi-Cdg
Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertension, Hypothyroidis... ORPHA:79319
White Sponge Nevus 2
Epidermal acanthosis OMIM:615785
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circu... OMIM:615363
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... OMIM:615954
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Skin vesicle, Eosinophilia, Neutropenia, Neutrophilia, Scaling skin, Acantholysis, ... ORPHA:293173
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Dry skin, Acantholysis, Epidermal acanthosis, Scaling skin OMIM:616295
Ichthyosis, Annular Epidermolytic, 1
Erythema, Scaling skin OMIM:607602
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... ORPHA:42
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hirsutism, Hypothyroidism, Hypercholesterolemia, Abnor... ORPHA:77296
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Type II diabetes mellitus, Hepatic steatosis, Eunuchoi... ORPHA:91
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Macrocephaly-Intellectual Disability-Autism Syndrome
Multiple lipomas, Thyroid carcinoma, Hurthle cell thyroid adenoma, Hepatic steatosis ORPHA:210548
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... OMIM:278000
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis ORPHA:2377
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:618400
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Inguinal hernia, Biliary tract abnormality ORPHA:3191
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc... OMIM:619386
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sparse body hair, Hypogonadism, Obesity, Abnormality of the thyroid gland, Eunuchoid habitus, Typ... ORPHA:2234
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Hypercholesterolemia... ORPHA:209902
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Failure to thrive, Truncal obesity, Sparse body hair ORPHA:261483
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
11P15.4 Microduplication Syndrome
Highly arched eyebrow, Obesity, Synophrys ORPHA:300305
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Delayed puberty, Pituitary hypoth... OMIM:614963
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Elevated circul... OMIM:261680
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Cutaneous Mastocytoma
Erythema, Scaling skin ORPHA:79455
Werner Syndrome
Insulin resistance, Abnormal hair whorl, Chondrocalcinosis, Premature graying of hair, Hypogonadi... ORPHA:902
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Carnitine Deficiency, Systemic Primary
Failure to thrive, Recurrent hypoglycemia, Elevated circulating aspartate aminotransferase concen... OMIM:212140
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Truncal obe... OMIM:615812
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemic hypoglycemia, H... OMIM:602579
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepat... OMIM:615630
Bathing Suit Ichthyosis
Epidermal acanthosis, Scaling skin ORPHA:100976
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Dysbetalipoproteinemia
Acute pancreatitis, Obesity, Xanthelasma, Hepatic steatosis, Hypothyroidism, Hypercholesterolemia... ORPHA:412
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Acute Radiation Syndrome
Skin ulcer, Lymphopenia, Scaling skin, Thrombocytopenia, Granulocytopenia ORPHA:454831
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Hyperlipidemia... ORPHA:90154
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Elastosis Perforans Serpiginosa
Epidermal acanthosis, Cutis laxa ORPHA:79148
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Psoriasiform lesio... ORPHA:169154
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Scaling skin ORPHA:284426
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus OMIM:610628
Pemphigus Foliaceus
Erythema, Acantholysis, Skin vesicle, Scaling skin ORPHA:79481
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Long eyelashes, Thick eyebrow, Obesity, Lipoma, Synophrys ORPHA:480907
Atrophoderma Vermiculata
Erythema, Abnormal epidermal morphology ORPHA:79100
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... ORPHA:96184
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Obesity, Hirsutism OMIM:604931
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Alopecia, Elevated circulating hepatic transaminase concentration, Sma... ORPHA:2959
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Sparse scalp hair, Failure to thrive, Decreased adi... OMIM:606721
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin OMIM:604536
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Elev... ORPHA:94086
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Alstrom Syndrome
Alopecia, Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mel... OMIM:203800
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Laron Syndrome
Hypoglycemia, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality of the endocrin... ORPHA:633
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ... ORPHA:2088
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria OMIM:618857
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Pallor, An... OMIM:301310
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, Hepatic steatosis OMIM:615996
Monosomy 13Q34
Insulin resistance, Obesity, Horizontal eyebrow, Hepatic steatosis ORPHA:96168
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Familial Chylomicronemia Syndrome
Acute pancreatitis, Failure to thrive, Hepatosplenomegaly, Hyperlipidemia, Hepatic steatosis, Dec... ORPHA:444490
Recon Progeroid Syndrome
Anemia, Dry skin, Scaling skin, Thrombocytopenia OMIM:620370
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Scaling skin, Myeloproliferative disorder, Lymphocytosis ORPHA:79456
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Low posterior hairline, Sparse facial hair, Absent facial hair, Abnormality of the hypot... ORPHA:2183
Ichthyosis With Confetti
Scaling skin OMIM:609165
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Hypogly... OMIM:231530
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Facial hypertrichosis, Central hypothyroidism, Fa... ORPHA:508
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Micronodular cirrhosis, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Acute... OMIM:256810
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Rafiq Syndrome
Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Obesity, Broad eyebrow, Truncal ob... OMIM:614202
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Pancytopenia, Psoriasiform lesion, Autoimmune hemolytic anemia, Splenom... OMIM:614700
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Skin ulcer, Hepa... ORPHA:231226
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... OMIM:264470
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Mal De Meleda
Erythema, Epidermal acanthosis ORPHA:87503
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating hepatic transaminase concentration, ... OMIM:600649
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... ORPHA:905
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Insulin-Like Growth Factor I, Resistance To
Highly arched eyebrow, Thick eyebrow, Reduced subcutaneous adipose tissue, Decreased body weight,... OMIM:270450
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Congenital hypothyroidism, Obesity, Red hair, Diabetes mellitus OMIM:614613
Nephronophthisis 15
Obesity, Elevated circulating hepatic transaminase concentration OMIM:614845
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Congenital Analbuminemia
Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Small for gestational age ORPHA:86816
48,Xxyy Syndrome
Abnormal dental enamel morphology, Tall stature, Obesity, Type II diabetes mellitus, Inguinal her... ORPHA:10
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus, Hypertriglyceridemia OMIM:618620
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Congenital Disorder Of Glycosylation, Type If
Dry skin, Scaling skin OMIM:609180
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Dry skin, Scaling skin OMIM:618373
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b... OMIM:614450
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism OMIM:619737
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Infantile Digital Fibromatosis
Epidermal acanthosis ORPHA:199267
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Low posterior hairline, Obesity, Abnormal hair quantity, Hypogonadism ORPHA:2233
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Increased muscle gl... OMIM:261750
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Summitt Syndrome
Tall stature, Obesity, Camptodactyly of finger ORPHA:3210
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick eyebrow, Low posterior hairline, Truncal obesity, Thick hair, Synophrys ORPHA:2429
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Hypoglycemia, Decreased liver func... OMIM:617093
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Keratoderma Hereditarium Mutilans With Ichthyosis
Epidermal acanthosis, Scaling skin on fingertip ORPHA:79395
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Thick eyebrow ORPHA:444002
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Inguinal hernia, Hypothyroidism, Truncal obesity, Sparse hair, Diabetes mellitus OMIM:616541
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Failure to ... ORPHA:813
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Hypergl... ORPHA:79474
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hypogly... OMIM:201450
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Inguinal hernia, Hip contracture, Amelogenesis imperfecta, Enamel hypoplasia, Truncal ob... OMIM:618363
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Hypogonadism, Obesity, Biliary tract abnormality, Hirsutism... OMIM:209900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Obesity ORPHA:88643
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Hypoth... OMIM:616263
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Failure to thrive, Hepatic steatosis, Decreased liver function ORPHA:70472
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine amino... OMIM:618805
Adrenocortical Carcinoma
Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo... ORPHA:1501
Morm Syndrome
Truncal obesity ORPHA:75858
Acrokeratosis Verruciformis
Acantholysis, Epidermal acanthosis OMIM:101900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Alopecia, Breast aplasia, Abnormal eyebrow morphology, Hyperlipidemia, Absent... ORPHA:90153
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Hypogonadism, Decreased serum testosterone concentration, Abdominal obesity, In... OMIM:300869
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Obesity, Horizontal eyebrow, Synophrys ORPHA:352530
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Thick eyebrow, Truncal obesity ORPHA:3459
19P13.12 Microdeletion Syndrome
Precocious puberty, Obesity, Hyperlipidemia, Hepatic steatosis, Generalized hirsutism, Hypothyroi... ORPHA:254346
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia OMIM:604484
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis OMIM:615022
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia, Pseudohypoparathyroidism OMIM:612463
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Hypopigmentation of hair, Obesity ORPHA:177910
Trisomy 5P
Obesity ORPHA:1742
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Tall stature, Hepatic steatosis, Inguinal hernia, Pancreatitis, Brittle hair, ... OMIM:236200
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia, Scaling skin ORPHA:35173
Prader-Willi Syndrome
Precocious puberty, Class III obesity, Failure to thrive in infancy, Decreased response to growth... OMIM:176270
Immunodeficiency 61
Obesity OMIM:300310
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Hypertriglyceridemia, Decreased cervical spine flexion due to... ORPHA:98855
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Hypoglycemia, Polysplenia, Exocri... OMIM:619418
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepatosplenomegaly, Hep... OMIM:619013
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose intolerance, Hirsutism, Abd... OMIM:219090
Microtriplication 11Q24.1
Long eyelashes, Thick eyebrow, Hyperlipidemia, Obesity, Synophrys ORPHA:289522
Mpdu1-Cdg
Scaling skin ORPHA:79323
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis OMIM:148600
Bardet-Biedl Syndrome 21
Obesity, Elevated circulating hepatic transaminase concentration, Overweight OMIM:617406
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis OMIM:133200
Seborrhea-Like Dermatitis With Psoriasiform Elements
Epidermal acanthosis OMIM:610227
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Nonketotic hypoglycemia, Hepatom... OMIM:201475
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Epidermal acanthosis OMIM:613943
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Chung-Jansen Syndrome
Obesity, Thick eyebrow, Synophrys OMIM:617991
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis OMIM:615735
Schaaf-Yang Syndrome
Failure to thrive in infancy, Hypogonadism, Obesity, Thick eyebrow, Camptodactyly, Flexion contra... OMIM:615547
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemi... ORPHA:228305
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology, Abnormal mast cell morphology ORPHA:398189
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Familial Benign Chronic Pemphigus
Erythema, Acantholysis, Skin vesicle ORPHA:2841
Congenital Syphilis
Hypoglycemia, Extramedullary hematopoiesis, Hepatosplenomegaly, Palmoplantar scaling skin, Petech... ORPHA:499009
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp... OMIM:614921
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... OMIM:614582
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... ORPHA:79322
15Q24 Microdeletion Syndrome
High anterior hairline, Failure to thrive, Decreased response to growth hormone stimulation test,... ORPHA:94065
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Obesity, Hypothyroidism ORPHA:261229
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Polycystic Ovary Syndrome 1
Obesity, Hirsutism OMIM:184700
Baralle-Macken Syndrome
Obesity, Hirsutism OMIM:619255
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Hypertriglyceridemia, Decreased cervical spine flexion due to... ORPHA:98863
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Hepatom... OMIM:212138
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Hypertriglyceridemia, Decreased cervical spine flexion due to... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Hypertriglyceridemia, Decreased cervical spine flexion due to... ORPHA:98853
Bloom Syndrome
Insulin resistance, Sparse eyelashes, Adipose tissue loss, Patchy alopecia, Abdominal obesity, Di... ORPHA:125
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Hirsutism, Campt... OMIM:175700
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Acantholysis, Palmoplantar scaling skin, Palmoplantar erythema OMIM:605676
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decreased body mass in... ORPHA:247585
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... ORPHA:99901
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:369840
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Whipple Disease
Insulin resistance, Splenomegaly, Cachexia, Hypothyroidism, Hepatomegaly ORPHA:3452
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Bacterial Toxic-Shock Syndrome
Ecchymosis, Increased circulating myelocyte count, Scaling skin, Thrombocytopenia, Increased circ... ORPHA:36234
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Hyp... ORPHA:465508
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis ORPHA:2199
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Graft Versus Host Disease
Hepatosplenomegaly, Hemophagocytosis, Scaling skin ORPHA:39812
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... OMIM:610717
Cimdag Syndrome
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly OMIM:619273
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyp... OMIM:212065
Pseudohypoparathyroidism, Type Ib
Obesity, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism OMIM:603233
Carpenter Syndrome
Obesity, Polysplenia, Umbilical hernia ORPHA:65759
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Frontal balding, Hypogonadism, Flexion contracture of digit, Reduced subcutaneous adipose tissue,... ORPHA:3041
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Bangstad Syndrome
Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mellitus, Go... OMIM:210740
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Long eyelashes, Neonatal hypoglycemia, Broad lateral eyebrow, Obesity OMIM:608624
Basan Syndrome
Epidermal acanthosis OMIM:129200
Proteus Syndrome
Epidermal acanthosis, Splenomegaly OMIM:176920
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Microvesi... OMIM:611126
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Fasting... ORPHA:348
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
48,Xxxy Syndrome
Abnormal dental enamel morphology, Tall stature, Obesity, Hypogonadism, Type II diabetes mellitus... ORPHA:96263
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis, Obesity, Hypogonadism OMIM:616629
Singleton-Merten Syndrome 2
Psoriasiform lesion OMIM:616298
Citrullinemia, Type Ii, Neonatal-Onset
Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Elevated circulating aspartate amin... OMIM:605814
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Facial hirsutism, Obesity, Thick eyebrow, Hirsutism, Inc... ORPHA:247768
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, Jaundice OMIM:231680
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h... OMIM:615453
Urban-Rogers-Meyer Syndrome
Hypogonadism, Obesity, Camptodactyly of finger, Flexion contracture of toe ORPHA:3409
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Vulvovaginal Gingival Syndrome
Erythema, Epidermal acanthosis ORPHA:83453
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elbow flexion contracture,... OMIM:608836
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Hypogonadism, Long eyelashes, Hirsutism, Low anterior hairline, Truncal ob... OMIM:300882
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Epidermal acanthosis OMIM:617525
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ... OMIM:615595
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Obesity ORPHA:411515
Clark-Baraitser Syndrome
Obesity OMIM:617752
13Q12.3 Microdeletion Syndrome
Camptodactyly, Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:412035
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, Umbilical hernia, Congenital diaphragmatic hernia, Truncal obesity, Spars... ORPHA:284180
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Adrenomyodystrophy
Primary adrenal insufficiency, Hepatic steatosis, Failure to thrive ORPHA:977
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Chondrocalcinosis, Graves disease, Failure to thriv... ORPHA:358
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Truncal obe... OMIM:618160
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Hypogonadotropic hypogonadism, Cachexia,... ORPHA:298
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis, Granulomatosis ORPHA:38
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure ... ORPHA:398079
Chromosome 16P13.3 Deletion Syndrome, Proximal
Facial hypertrichosis, Failure to thrive, Polysplenia, Abnormality of the hairline, Obesity OMIM:610543
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Sheehan Syndrome
Decreased serum estradiol, Sparse pubic hair, Secondary growth hormone deficiency, Adrenocorticot... ORPHA:91355
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Wrist flexion contracture, Flexion contracture, Obesity, Male hypogonadism OMIM:300055
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Failure to thrive, Elevated cir... OMIM:227810
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
6Q16 Microdeletion Syndrome
Obesity, Thick eyebrow ORPHA:171829
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Joubert Syndrome 10
Decreased body weight, Obesity, Hirsutism OMIM:300804
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Immunodeficiency 58
Psoriasiform lesion, Scaling skin OMIM:618131
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypogonadism, Obesity, Pseudohypoparathyroidism, ... OMIM:103580
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities