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Gene: Eif2ak3 MGI:1341830

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
eukaryotic translation initiation factor 2 alpha kinase 3
Synonyms:
PERK

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Eif2ak3 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 Eif2ak3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Short stature, Hypothyroi... ORPHA:1667
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
High palate, Irregular tarsal ossification, Irregular vertebral endplates, Ivory epiphyses of the... OMIM:226980

The table below shows human diseases predicted to be associated to Eif2ak3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:256450
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Hypoinsu... ORPHA:552
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Short stature, Steatorrhea OMIM:618752
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Pancreatic Agenesis 1
Failure to thrive, Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia, ... OMIM:260370
Pancreatic Agenesis 2
Pancreatic hypoplasia, Small for gestational age, Steatorrhea OMIM:615935
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Diabetes mel... OMIM:167800
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabsorption, Chronic diarrhea ORPHA:309108
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Steatorrhea, Fat malabsorption, Chronic diarrhea, Growth delay, Increased feca... OMIM:613291
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Macroglossia, Small for gestational age, Maturity-onset diabe... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Splenomegaly, Ja... OMIM:612714
Secondary Short Bowel Syndrome
Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S... ORPHA:95427
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Diarr... OMIM:615710
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Short stature, Hepatosplenomegaly, Hypothyroidism, Type I diab... OMIM:615952
Cystic Fibrosis
Malabsorption, Exocrine pancreatic insufficiency, Hepatomegaly, Biliary cirrhosis ORPHA:586
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Wolman Disease
Adrenal insufficiency, Hepatomegaly, Steatorrhea, Adrenal calcification, Splenomegaly, Cachexia, ... ORPHA:75233
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Steatorrhea, Cirrhosis, Diarrhea,... OMIM:602579
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Growth delay, Abnormal circulating insulin concentration, Short stature, Decreased circulating fr... ORPHA:171706
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growth retardation, ... OMIM:601410
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Neoplasm of the liver, Extrahepatic... ORPHA:1333
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormality of the hallux, Exocrine pancreatic insufficiency, Ataxia, Hepatomegaly, Joint contrac... ORPHA:456312
Short Stature Due To Ghsr Deficiency
Decreased body weight, Short stature, Vomiting, Hypoglycemia, Delayed puberty, Growth delay, Decr... ORPHA:314811
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Splenomegaly, Abnormal form of the vertebral bodies, Abnormality... ORPHA:1802
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Johanson-Blizzard Syndrome
Anal atresia, Exocrine pancreatic insufficiency, Malabsorption, Failure to thrive, Short stature,... ORPHA:2315
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Steatorrh... OMIM:269200
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Steatorrhea, Cirrhosis, Diar... OMIM:607765
Congenital Short Bowel Syndrome
Failure to thrive, Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomiting, ... OMIM:615237
X-Linked Lissencephaly With Abnormal Genitalia
Malabsorption, Exocrine pancreatic insufficiency, Hypohidrosis, Cryptorchidism, Aganglionic megac... ORPHA:452
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatomegaly, Splenomegaly, Steatorrhea, Cirrhosis, Diarrhea, Hepatitis, Intra... OMIM:613812
Shwachman-Diamond Syndrome 2
High palate, Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Sho... OMIM:617941
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Diarrhea, Vomiting, Hypocholesterolemia, Growth delay OMIM:246700
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Diarrhea, Vomiting, Hypocholesterolemia, Increased hepatocellular... ORPHA:71
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Osteoporosis, Congenital hepatic fibrosis, Elevated... ORPHA:79230
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Cholestatic liver disease, Elevated fecal osmolality, Abnormal large... ORPHA:92050
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Short stature, Short neck, Scoliosis, Osteoporosis, Joint laxity, ... OMIM:616033
Isolated Glycerol Kinase Deficiency
Short stature, Scoliosis, Osteoporosis, Hyperlordosis, Adrenocortical hypoplasia, Cryptorchidism ORPHA:408
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Hepatomegaly, Short stature, Increased hepatic glycogen content, Osteopenia, Cirrho... ORPHA:369
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... OMIM:246200
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Failure to thrive, Hepatomegaly, Periportal fibrosis, Splenomegaly, Adrena... OMIM:278000
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, High palate, Precocious puberty, Hyperinsulinemia, Small for gestatio... OMIM:262190
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Hepatomegaly, Steatorrhea, Short stature, Pancreatic fibrosis, Hypothyroidism,... OMIM:616263
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Hepatomegaly, Steatorrhea, Splenomegaly, Diarrhea, Intrahepatic cholestasis, J... OMIM:235555
Mahvash Disease
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... OMIM:619290
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Short stature, Hypothyroi... ORPHA:1667
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Osteoporosis OMIM:618234
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Scleroti... ORPHA:2790
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Somatostatinoma
Medullary thyroid carcinoma, Hepatomegaly, Constipation, Steatorrhea, Adrenocortical adenoma, Dia... ORPHA:97283
Dysplastic Cortical Hyperostosis
Hepatomegaly, Increased bone mineral density, Short stature, Splenomegaly, Abnormality of limb bo... ORPHA:2204
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Steatorrhea,... ORPHA:79303
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Hypercholanemia, Familial 1
Failure to thrive, Fat malabsorption, Steatorrhea OMIM:607748
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... OMIM:262700
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Congenital Disorder Of Glycosylation, Type Iik
Kyphoscoliosis, Metaphyseal dysplasia, Hepatomegaly, Short stature, Elevated circulating aspartat... OMIM:614727
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Steatorrhea, Short stature, Severe postnat... ORPHA:440713
Shwachman-Diamond Syndrome 1
Coxa vara, Exocrine pancreatic insufficiency, Hepatomegaly, Metaphyseal chondrodysplasia, Steator... OMIM:260400
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Decreased response to growth hormone stimulation test, Short stature, Truncal ... OMIM:618160
Pearson Marrow-Pancreas Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Malabsorption, Hepatomegaly, Steatorrhea, S... OMIM:557000
Metatropic Dysplasia
Joint stiffness, Kyphosis, Clinodactyly of the 5th finger, Coarse metaphyseal trabecularization, ... ORPHA:2635
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Ataxia, Dysmetria, Short stature, Hypogonadotropic hypogonadism, Camptodactyly of finge... ORPHA:48431
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Rauch-Steindl Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Short stature, Postnatal grow... OMIM:619695
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... OMIM:615954
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort... ORPHA:564003
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Gout, Osteoporosis, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71526
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
High palate, Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hep... OMIM:619418
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Glycerol Kinase Deficiency
Adrenal insufficiency, Short stature, Episodic vomiting, Osteoporosis, Pathologic fracture, Hypog... OMIM:307030
Perrault Syndrome 1
High palate, Ataxia, Talipes equinovarus, Short stature, Scoliosis, Osteoporosis, Gait ataxia, In... OMIM:233400
Shashi-Pena Syndrome
Hypoglycemia, Kyphosis, Scoliosis, Osteoporosis OMIM:617190
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Excessive insu... ORPHA:276556
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... ORPHA:453533
Pancreatic insufficiency, combined exocrine
Anal atresia, Exocrine pancreatic insufficiency OMIM:260450
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Insulin resistance, Cirrhosis, Maternal diabetes, Hy... OMIM:604367
Glucagonoma
Hepatomegaly, Constipation, Steatorrhea, Adrenocortical adenoma, Diarrhea, Increased circulating ... ORPHA:97280
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Reduced bone mineral density, Hypergonadotropic hypogonadism, Short stature,... ORPHA:2410
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
High palate, Irregular tarsal ossification, Irregular vertebral endplates, Ivory epiphyses of the... OMIM:226980
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Colitis, Steatorrhea, Diarrhea, Growth delay, Weight loss ORPHA:309031
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Diarrhea, Vomiting, Hypoglycemia, Abnormal intestine morphology OMIM:606528
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Intestinal malrotation, Bilateral cleft lip and palate, Pancreatic islet-cell hyperplasia, Large ... OMIM:601165
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessi... ORPHA:324575
Shwachman-Diamond Syndrome
Metaphyseal irregularity, Exocrine pancreatic insufficiency, Osteomyelitis, Hepatomegaly, Decreas... ORPHA:811
Eosinophilic Gastroenteritis
Malabsorption, Steatorrhea, Diarrhea, Abnormality of the gastrointestinal tract, Vomiting, Hemato... ORPHA:2070
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Periportal fibrosis, Chronic diarrhea, Prolonged neonatal jaundice OMIM:619481
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Winchester Syndrome
Broad metacarpals, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized os... OMIM:277950
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Metaphyseal dysplasia, Reduced bone mineral density, Short sta... OMIM:617052
Congenital Bile Acid Synthesis Defect Type 1
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, El... ORPHA:79301
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Short stature, Osteopenia, Osteoporosis, Camptodactyly OMIM:264010
Deeah Syndrome
High palate, Exocrine pancreatic insufficiency, Malabsorption, Hepatomegaly, Decreased response t... OMIM:619004
Symptomatic Form Of Hemochromatosis Type 1
Joint stiffness, Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Decreased serum testostero... ORPHA:465508
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Foot acroosteolysis, Tapered finger, Hyperlordosis, Osteolysis, Abn... ORPHA:970
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Polycystic o... ORPHA:79084
Chondroectodermal Dysplasia With Night Blindness
Metaphyseal irregularity, Metaphyseal dysplasia, Short stature, Osteopenia, Fractures of the long... ORPHA:319195
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis OMIM:615269
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Glucose intolerance, Malabsorption, Exocrine pancreatic insufficiency, Failure to thrive, Cirrhos... OMIM:616539
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Contractures of the large joints, Osteoporosis, Short stature OMIM:608278
Celiac Disease, Susceptibility To, 1
Failure to thrive, Steatorrhea, Short stature, Diarrhea, Vomiting, Stomatitis, Type I diabetes me... OMIM:212750
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Short stature, R... OMIM:617974
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Craniosynostosis, Camptodactyly of toe, Broad hallux phalanx, Prea... OMIM:175700
Classic Galactosemia
Gait imbalance, Ataxia, Hepatomegaly, Reduced bone mineral density, Hepatic failure, Diarrhea, Os... ORPHA:79239
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Glycosuria, Median cleft lip and pa... ORPHA:699
Polyendocrine-Polyneuropathy Syndrome
Short stature, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Central hypothyroidism OMIM:616113
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis OMIM:608805
Cystic Fibrosis
Ileus, Exocrine pancreatic insufficiency, Failure to thrive, Pancreatitis, Hepatomegaly, Steatorr... OMIM:219700
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Immunodeficiency 12
Growth delay, Osteoporosis OMIM:615468
Sialidosis Type 2
Kyphosis, Ataxia, Hepatomegaly, Flexion contracture, Splenomegaly, Short stature, Osteoporosis ORPHA:87876
Infantile Systemic Hyalinosis
Failure to thrive, Malabsorption, Severe short stature, Steatorrhea, Abnormality of the adrenal g... ORPHA:2176
Proteus Syndrome
Spinal canal stenosis, Kyphoscoliosis, Splenomegaly, Calvarial hyperostosis, Thin bony cortex, Ma... OMIM:176920
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Ck Syndrome
High palate, Kyphosis, Scoliosis, Hyperlordosis, Abnormal digit morphology, Joint hypermobility, ... OMIM:300831
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatomegaly, Hepatic failure, Increased hepatic glycogen content, Os... ORPHA:2088
Flynn-Aird Syndrome
Joint stiffness, Ataxia, Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Increased ... OMIM:136300
Pancreatic And Cerebellar Agenesis
Failure to thrive, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus, Hyperglycemia OMIM:609069
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Hepatomegaly, Flexion contracture, Scoliosis, Osteoporosis, Elevated hepatic transamina... OMIM:615381
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... ORPHA:3152
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... ORPHA:263455
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis, Short stature ORPHA:2786
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Polycystic ovaries, Increa... ORPHA:2298
Pseudopseudohypoparathyroidism
Short stature, Short neck, Brachydactyly, Osteoporosis, Pseudohypoparathyroidism, Short metatarsa... OMIM:612463
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Bilateral talipes equinovarus, Finger clinodactyly, Osteoporosis, Cryptorchidism, Coxa valga ORPHA:2958
Prieto Syndrome
Talipes equinovarus, Osteoporosis, Clinodactyly, Radial deviation of finger, Cryptorchidism, Coxa... OMIM:309610
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Limitation of joint mobility, Osteoporosis ORPHA:3294
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... OMIM:220111
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Intrauterine growth retar... OMIM:606176
Immunodeficiency 47
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Acce... OMIM:300972
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Joint stiffness, Growth delay, Hyperinsulinemia, Hepatomegaly, Short distal phalanx ... OMIM:248370
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Flexion contracture, Hyperglycemia OMIM:618856
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypot... ORPHA:93111
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno... ORPHA:249
Osteogenesis Imperfecta, Type Xii
High palate, Short stature, Scoliosis, Osteoporosis, Generalized osteoporosis OMIM:613849
Orofaciodigital Syndrome Type 1
High palate, Exocrine pancreatic insufficiency, Ataxia, Cleft palate, Abnormality of the pancreas... ORPHA:2750
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Reduced bone mineral density, Short stature, Thin bony cortex, Decreased cir... OMIM:619795
Weismann-Netter Syndrome
Kyphosis, Abnormality of femur morphology, Abnormality of the thyroid gland, Severe short stature... ORPHA:3344
Forsythe-Wakeling Syndrome
Growth delay, Osteoporosis, Short stature OMIM:613606
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Small for gestational age, Biliary atresia,... ORPHA:2255
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Osteoporosis OMIM:233300
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis, Delayed puberty OMIM:615271
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T... ORPHA:53697
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Kyphosis, Pigmented m... OMIM:610475
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Short stature, Ketotic hypoglycemi... ORPHA:2089
Familial Hyperprolactinemia
Osteopenia, Female hypogonadism, Hemorrhagic ovarian cyst, Osteoporosis ORPHA:397685
Warburg Micro Syndrome 1
Overlapping toe, Kyphoscoliosis, Short stature, Osteoporosis, Joint hypermobility, Cryptorchidism OMIM:600118
Progressive Pseudorheumatoid Dysplasia
Joint stiffness, Kyphoscoliosis, Coxa vara, Joint contracture of the hand, Enlarged metacarpophal... OMIM:208230
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Ataxia, Beaking of vertebral bodies, Hepatomegaly, Hypoplastic vertebral bodies,... OMIM:230600
Mu-Heavy Chain Disease
Osteolysis, Hepatomegaly, Osteoporosis, Splenomegaly ORPHA:100024
Bruck Syndrome 1
Hip contracture, Kyphosis, Coxa vara, Talipes equinovarus, Short stature, Platyspondyly, Scoliosi... OMIM:259450
Pseudoachondroplasia
Irregular carpal bones, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Genu valgum, ... ORPHA:750
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Metaphyseal dysplasia, Platyspondyly, Scoliosis, Osteopo... OMIM:234250
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Brachydactyly, Joint hyperflexibility, Osteoporosis ORPHA:2787
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Short stature, Camptodactyly of fi... ORPHA:3409
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Short neck, Platyspondyly, Monkey wrenc... OMIM:251450
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Disproportionate short-limb short stature, Short metacarpal, Osteoarthritis, Platyspon... ORPHA:93351
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Recurrent fractures, Osteoporosis OMIM:256720
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Craniosynostosis, Severe postnatal growth retardation, Small h... OMIM:620005
Schwartz-Jampel Syndrome, Type 1
High palate, Short neck, Platyspondyly, Micromelia, Anterior bowing of long bones, Bowing of the ... OMIM:255800
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Disproporti... ORPHA:93284
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Genu valgum, Generalized osteoporosis, Vertebral wedging, Flat capital femoral epi... ORPHA:1159
Cerebrooculofacioskeletal Syndrome 1
Kyphoscoliosis, Joint contracture of the hand, Flexion contracture, Rocker bottom foot, Osteoporo... OMIM:214150
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Glucose intolerance, Hyperinsulinemia, Osteopenia, Absence of pu... ORPHA:785
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Osteoporosis, Decreased testicula... OMIM:610628
Mucopolysaccharidosis, Type Iva
Kyphosis, Pointed proximal second through fifth metacarpals, Hepatomegaly, Metaphyseal widening, ... OMIM:253000
Renal Cysts And Diabetes Syndrome
Glucose intolerance, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Gly... OMIM:137920
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Hepatomegaly, Diarrhea, Osteoporosis, Vomiting, Type I diabetes mellitus, Rickets OMIM:560000
Eiken Syndrome
Delayed epiphyseal ossification, Metaphyseal irregularity, Abnormal bone ossification, Short toe,... ORPHA:79106
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Constipation, Abnormality of th... ORPHA:2126
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Steatorrhea, Cachexia, Duodenal ulcer, Chronic diarrhea ORPHA:3217
Premature Ovarian Failure 2B
Osteoporosis, Delayed puberty OMIM:300604
Propionic Acidemia
Hepatomegaly, Pancreatitis, Constipation, Short stature, Osteoporosis, Vomiting, Hypoglycemia, Le... OMIM:606054
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Ataxia, Gastroesophageal reflux, Osteoporosis OMIM:619971
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Metaphyseal irregularity, Lumbar hyperlordosis, Hepatomegaly, Co... OMIM:602557
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitu... ORPHA:99885
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Vomiting... ORPHA:103918
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Osteopenia, Osteolysis involving bones of the lower limbs, Premature thelarche... ORPHA:371428
Pseudohypoparathyroidism, Type Ia
Short toe, Short stature, Elevated circulating parathyroid hormone level, Short neck, Brachydacty... OMIM:103580
Bile Acid Synthesis Defect, Congenital, 6
Steatorrhea OMIM:617308
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Squared-off platyspondyly, Kyphoscoliosis, Irregular verte... OMIM:271630
Cystinosis, Nephropathic
Growth delay, Hypophosphatemic rickets, Exocrine pancreatic insufficiency, Hepatomegaly, Splenome... OMIM:219800
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Short stature, Arachnodac... OMIM:614856
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Kyphoscoliosis, Pancreatitis, Arachnodactyly, Biconcave vertebral bodies, Osteoporos... OMIM:236200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Overlapping toe, Exocrine pancreatic insufficiency, Thoracic scoliosis, Broad phalanx, Clinodacty... ORPHA:508498
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Diarrhea, Vomiting,... OMIM:212065
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Osteoporosis, Male hypogonadism, Short stature OMIM:618625
Hyaline Fibromatosis Syndrome
Flexion contracture, Osteopenia, Diarrhea, Osteoporosis, Osteolysis, Progressive flexion contract... OMIM:228600
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Hyperlordosis, Gait d... ORPHA:2501
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Multiple joint contractures, Broad-based gait, Thoracic scoliosis, Decr... ORPHA:2959
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Osteopenia, Osteoporosis, Adrenal hyperplasia, Primary hype... OMIM:615830
Pseudohypoparathyroidism, Type Ic
Short stature, Elevated circulating parathyroid hormone level, Short neck, Brachydactyly, Osteopo... OMIM:612462
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Secondary hyperparathyroidism, Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal os... OMIM:264700
Hemochromatosis, Type 1
Glucose intolerance, Testicular atrophy, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadis... OMIM:235200
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Hump-shaped mound of bone in central and posterior portions of vertebral endplat... ORPHA:99642
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Glucose intolerance, Hyperinsulinemia, Flexion contracture, Acroosteolysis of distal... OMIM:608612
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Brachydactylous Dwarfism, Mseleni Type
Short toe, Severe short stature, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormal... ORPHA:2619
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, High palate, Decreased body weight, Hepatomegaly, Gastroesophageal reflux, Macrog... OMIM:618268
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Ataxia, Hyperglycemia OMIM:618970
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, D... ORPHA:94068
Osteoporosis
Osteoporosis OMIM:166710
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Abnormal metaphysis morphology, Short stature, Osteomalacia, Scol... ORPHA:93160
Mucopolysaccharidosis, Type Ivb
Kyphosis, Pointed proximal second through fifth metacarpals, Hepatomegaly, Metaphyseal widening, ... OMIM:253010
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
High palate, Decreased body weight, Small for gestational age, Short stature, Hypoglycemia, Neona... ORPHA:231140
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Short stature, Abnormality of the parathy... ORPHA:1227
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Platyspondyly, Monkey wrench femoral neck, Hypoplasia of t... OMIM:617719
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Type II diabetes mellitus, Hyperglycemia OMIM:520000
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Clinodactyly of the 5th finger, Short stature, Severe pos... ORPHA:73272
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... OMIM:609223
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Hepatocellular carcinoma... OMIM:601847
Lysosomal Acid Lipase Deficiency
Failure to thrive, Microvesicular hepatic steatosis, Steatorrhea, Adrenal calcification, Cachexia... ORPHA:275761
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Disproportionate short-limb short stature... OMIM:609052
Beta-Thalassemia Intermedia
Cholelithiasis, Hypoparathyroidism, Adrenal insufficiency, Decreased liver function, Hepatomegaly... ORPHA:231222
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Short stature, Upper limb undergrowth, Pathologic fracture, Short foot, Abnorma... ORPHA:166277
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Abnormal femoral neck/head morphology, Short stature, Osteopenia, Metaphyseal... ORPHA:2788
Pachydermoperiostosis
Malabsorption, Osteomyelitis, Hepatomegaly, Elevated circulating growth hormone concentration, Sp... ORPHA:2796
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Vomiting, Hypoglycemia, Primary adrenal insufficiency, Hypogonad... OMIM:617872
Methylcobalamin Deficiency Type Cble
Abnormality of the liver, Scoliosis, Osteoporosis, Vomiting, Syndactyly, Clinodactyly, Postnatal ... ORPHA:2169
Hypocalcemic Vitamin D-Dependent Rickets
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Subperios... ORPHA:289157
Vitamin D-Dependent Rickets, Type 2A
Secondary hyperparathyroidism, Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal os... OMIM:277440
Niemann-Pick Disease, Type A
Inability to walk, Hepatomegaly, Constipation, Splenomegaly, Short stature, Elevated circulating ... OMIM:257200
Stüve-Wiedemann Syndrome
Flexion contracture of finger, Osteopenia, Micromelia, Genu valgum, Bowing of the long bones, Abn... ORPHA:3206
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Short stature, Reduced bone mineral density, Osteopenia, Arachnodacty... OMIM:619489
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age OMIM:618857
Greenberg Dysplasia
Severe short-limb dwarfism, Abnormal bone ossification, Anterior rib punctate calcifications, Abn... ORPHA:1426
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Delayed ossification of ... OMIM:184260
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Necrotizing Enterocolitis
Bloody diarrhea, Small for gestational age, Peritonitis, Diarrhea, Vomiting, Abnormal glucose hom... ORPHA:391673
Tenorio Syndrome
Hypoinsulinemia, Gastroesophageal reflux, Macroglossia, Osteopenia, Scoliosis, Hypoglycemia, Gait... OMIM:616260
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Acute pancreatitis, Hypertriglyceridem... OMIM:151660
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Intrauterine growth retardation, Hyperglycemia OMIM:619737
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Cone-shaped epiphyses of the distal phalanges of the hand, Short neck, Platyspondyl... OMIM:618958
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Increased circulating cortisol level, Osteopenia, Osteoporosis, Adrenal hyperplasia, Pr... OMIM:219080
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Polycy... ORPHA:79240
Post-Traumatic Pituitary Deficiency
Growth delay, Abnormal prolactin level, Decreased response to growth hormone stimulation test, Os... ORPHA:95619
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Hyperinsulinemia, Hepatomegaly, Spinal rigidity, Flexion contracture, Splenomegaly, Consti... OMIM:613327
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short stature, Short neck, Abnormal form of the vertebral bodies, Abnormal c... ORPHA:1486
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Sclerosis of skull base, Kyphosis, Severe short stature, Hyperextensibility of t... OMIM:313420
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Hypoplasia of the ovary, Reduced circulating prolactin concentration, Reduce... ORPHA:2235
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Talipes equinovarus, Short stature, Platyspondyly... ORPHA:2771
Metatropic Dysplasia
Platyspondyly, Disproportionate short-trunk short stature, Hyperplasia of the femoral trochanters... OMIM:156530
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Growth delay, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Polycystic ovaries, Diarrhea,... ORPHA:264580
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglyc... OMIM:613027
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Glycogen Storage Disease Ia
Pancreatitis, Hepatomegaly, Short stature, Hepatocellular carcinoma, Osteoporosis, Gout, Hypoglyc... OMIM:232200
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Short stature, Pancreatic fibrosis, Hepatocellular carc... OMIM:232220
Grant Syndrome
Short stature, Decreased skull ossification, Bowing of the long bones, Abnormal cortical bone mor... ORPHA:2097
Gorham-Stout Disease
Abnormality of femur morphology, Osteomyelitis, Abnormal bone ossification, Abnormality of finger... ORPHA:73
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diarrhea, Vomiting, Hypothyroidis... ORPHA:79319
19P13.3 Microduplication Syndrome
Kyphoscoliosis, Precocious puberty, Constipation, Gastroesophageal reflux, Cleft palate, Unilater... ORPHA:447980
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Short stature, Platyspondyly, Disproportionate short-trunk short stature, Abnormal vertebral morp... ORPHA:163665
Sim1-Related Prader-Willi-Like Syndrome
Precocious puberty, Type II diabetes mellitus, Small pituitary gland, Small hand, Osteopenia, Hyp... ORPHA:398079
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Osteoporosis, Short stature ORPHA:71267
Osteogenesis Imperfecta, Type V
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, S... OMIM:610967
Martinez-Frias Syndrome
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... OMIM:601346
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Wide anterior fontanel, Hepatic failure, Short stature, Elevated hepatic transami... OMIM:614886
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short stature, Flared metaphysis, Platyspondyly, Short middle phalanx of t... OMIM:156510
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Joint stiffness, Beaking of vertebral bodies, Short stature, Platy... OMIM:604864
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr... ORPHA:116
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Short neck, Generalized bone demineralization, Premature osteoarthritis, Metaphyse... ORPHA:93352
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Diarrhea... OMIM:211600
Abetalipoproteinemia
Failure to thrive, Hepatomegaly, Steatorrhea, Cirrhosis, Vomiting, Hypothyroidism, Hypocholestero... ORPHA:14
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central adrenal insufficiency, Osteopenia, Decreased inhibin B level, Precocious puberty, Decreas... ORPHA:98754
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... ORPHA:93346
Primary Pigmented Nodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Glucose intolerance, ... ORPHA:189439
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Disproportionate short-trunk short stature... ORPHA:93314
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, High palate, Precocious puberty, ... ORPHA:769
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Gastritis, Meconium ileus, Diarrhea, Biliary tract obstruction... OMIM:219721
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Severe short stature, Osteopenia, Femoral bowing, Platyspondyly, Scoliosis, ... OMIM:126550
Geroderma Osteodysplastica
Recurrent fractures, Beaking of vertebral bodies, Abnormal bone ossification, Severe short statur... ORPHA:2078
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Pituitary adenoma, Kyphosis, Increased circulating ACTH level, Biconcave ver... OMIM:219090
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central adrenal insufficiency, Osteopenia, Decreased inhibin B level, Precocious puberty, Decreas... ORPHA:98793
Atelosteogenesis Type I
Malrotation of colon, Talipes equinovarus, Cleft palate, Abnormal ossification involving the femo... ORPHA:1190
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Hypothyroidism, Nausea, Hypercholesterolemia, Hypopituitarism, Hyperglycemia ORPHA:90065
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Fat malabsorption, Cholestasis, Biliary tract abnormality ORPHA:79168
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Hypogonadism, Precocious puberty, Flexion contracture, Small pituitary gland, Scolios... ORPHA:398069
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central adrenal insufficiency, Osteopenia, Decreased inhibin B level, Precocious puberty, Decreas... ORPHA:177904
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Metaphyseal irregularity, Disproportionate short-limb short statur... ORPHA:174
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea OMIM:615558
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central adrenal insufficiency, Osteopenia, Decreased inhibin B level, Precocious puberty, Decreas... ORPHA:177901
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft palate, Hypogonadotropic hypogonadism, Osteoporosis, Clinodactyly, Decreased testicular size OMIM:614838
Johanson-Blizzard Syndrome
Anal atresia, Exocrine pancreatic insufficiency, Malabsorption, Failure to thrive, Small for gest... OMIM:243800
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, High, narrow palate, Cryptorchidism ORPHA:2849
Caffey Disease
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Calvaria... ORPHA:1310
Spondylo-Ocular Syndrome
Short stature, Platyspondyly, Short neck, Osteoporosis, Disproportionate short-trunk short statur... ORPHA:85194
Short Syndrome
Glucose intolerance, Birth length less than 3rd percentile, Joint laxity, Insulin-resistant diabe... OMIM:269880
Cantu Syndrome
Broad first metatarsal, Metaphyseal widening, Platyspondyly, Short neck, Osteoporosis, Short hall... OMIM:239850
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Severe short stature, Osteoporosis OMIM:204730
Amish Lethal Microcephaly
Hepatomegaly, Osteoporosis, Decreased skull ossification, Limitation of joint mobility, Cleft sof... ORPHA:99742
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Clinodactyly of the 5th finger, Short stature, Reduced bone mineral density, Scoliosis, Abnormal ... ORPHA:2370
Liver Disease, Severe Congenital
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic fai... OMIM:619991
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Irregular vertebral endplates, Kyphoscoliosis, Dislocated radial head, Flat capital ... OMIM:612350
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Thin bony cortex, C1-C2 subluxation, Thin metacarpal cortices, Osteolysis involving t... OMIM:259600
Familial Expansile Osteolysis
Osteolysis, Thin bony cortex, Bowing of the long bones, Pathologic fracture OMIM:174810
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoarthritis, Osteoporos... ORPHA:77296
Prader-Willi Syndrome
Central adrenal insufficiency, Osteopenia, Vomiting, Decreased inhibin B level, Hypogonadism, Pre... ORPHA:739
Dominant Beta-Thalassemia
Hypoparathyroidism, Adrenal insufficiency, Splenomegaly, Cirrhosis, Chronic hepatitis, Hepatocell... ORPHA:231226
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Thin bony cortex, Thoracic kyphosis, Rhizomelia, Broad thumb, Shor... OMIM:619638
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Genu valgum, Intervertebral space narrowing, Thoracic platyspondyly, ... ORPHA:166011
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Paradoxical increased cortisol secretion on dexamethasone suppression test, Glucose intolerance, ... ORPHA:189427
Progressive Familial Intrahepatic Cholestasis
Malabsorption, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Short stature, Cholestas... ORPHA:172
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:600081
Autosomal Recessive Primary Microcephaly
Growth delay, Abnormal cortical bone morphology, Short stature ORPHA:2512
Alagille Syndrome 1
Short distal phalanx of finger, Exocrine pancreatic insufficiency, Hepatic failure, Cirrhosis, He... OMIM:118450
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Spondylometaphyseal Dysplasia, Axial
Coxa vara, Splenomegaly, Short stature, Platyspondyly, Scoliosis, Short femoral neck, Disproporti... OMIM:602271
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Spondyloepiphyseal Dysplasia, Stanescu Type
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Platyspondyly, Stiff neck, Coxa valga OMIM:616583
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Kyphoscoliosis, Back pain, Pseudobulbar paralysis, Gait disturbance, Cervical spondylosis, Locali... ORPHA:199354
Cranioectodermal Dysplasia
Short distal phalanx of finger, Clinodactyly of the 5th finger, Craniosynostosis, Brachydactyly, ... ORPHA:1515
Functioning Gonadotropic Adenoma
Increased serum testosterone level, Adrenocorticotropic hormone deficiency, Abnormal prolactin le... ORPHA:91348
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Platyspondyly, Scoliosis, Genu varum, Enlarged metaphyses, Irreg... OMIM:618728
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Decreased serum insulin-like growth factor 1, Delayed puberty, Postnatal growth re... OMIM:618985
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Prader-Willi-Like Syndrome
Central adrenal insufficiency, Osteopenia, Decreased inhibin B level, Abnormality of the endocrin... ORPHA:398073
Dyssegmental Dysplasia With Glaucoma
Hip contracture, Delayed epiphyseal ossification, Wide anterior fontanel, Cleft palate, Short sta... OMIM:601561
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
2-3 toe cutaneous syndactyly, Ataxia, Clinodactyly of the 5th finger, Gastroesophageal reflux, Cr... OMIM:300998
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Mycetoma
Osteomyelitis, Bone cyst, Back pain, Osteoporosis, Abnormal form of the vertebral bodies, Patholo... ORPHA:2583
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Disproportionate short-limb short stature, Coxa vara, Bowing of the legs, Pl... OMIM:619131
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Geroderma Osteodysplasticum
Irregular vertebral endplates, Recurrent fractures, Beaking of vertebral bodies, Kyphoscoliosis, ... OMIM:231070
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short stature... ORPHA:2484
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Broad-based gait, Recurrent fractures, Kyphoscoliosis, Long hallux, Talipes equinovarus, High, na... OMIM:309583
Indolent Systemic Mastocytosis
Hepatomegaly, Osteoporosis, Splenomegaly ORPHA:98848
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis, Delayed puberty, Hypogonadism OMIM:615270
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Cranio-Osteoarthropathy
Joint stiffness, Osteoarthritis, Abnormality of tibia morphology, Arthritis, Deviation of finger,... ORPHA:1525
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Lumbar hyperlordosis, Decreased serum testosterone concentration, Cryptorchidism, Small... ORPHA:2232
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Severe short stature, Reduced bone mineral density, Scol... ORPHA:2617
Beta-Thalassemia Major
Hypoparathyroidism, Adrenal insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomeg... ORPHA:231214
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Recurrent fractures, Cortical sclerosis, Osteomyelitis, ... ORPHA:210110
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Gait disturbance, Vertebral compression fracture ORPHA:85193
Beta-Ketothiolase Deficiency
Hepatomegaly, Diarrhea, Vomiting, Hypoglycemia, Weight loss, Hyperglycemia ORPHA:134
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Absence of pubertal development, Osteoporosis, Hypogonadism OMIM:615267
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Short toe, Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropi... ORPHA:3085
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Intrahepatic cholestasis, Fat malabsorptio... OMIM:214950
Mccune-Albright Syndrome
Abnormality of femur morphology, Pancreatitis, Abnormal endocrine physiology, Ovarian cyst, Chole... ORPHA:562
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia OMIM:615986
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Coxa vara, Hiatus hernia, Severe short stature, Gastroesophageal reflux, Osteope... ORPHA:1901
Dysspondyloenchondromatosis
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Short stature, Osteoarth... ORPHA:85198
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Cleft palate, Abnormality of the vertebral endplates, Platyspondyly, Apla... ORPHA:1856
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly, Broad femoral nec... ORPHA:157965
Atypical Werner Syndrome
Hyperinsulinemia, Ovarian neoplasm, Glycosuria, Finger clinodactyly, Osteolytic defects of the ph... ORPHA:79474
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Osteoporosis, Camptodactyly, Intestinal lymphangiectasia, Growth delay OMIM:616006
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, High palate, Thoracic scoliosis, Generalized joint laxity, Osteo... OMIM:618000
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Beaking of vertebral bodies, Kyphoscoliosis, Dislocated radial head, Talipes equinov... ORPHA:93359
Aicardi-Goutieres Syndrome 9
Intrauterine growth retardation, Hepatomegaly, Hepatosplenomegaly, Scoliosis, Osteoporosis, Hypot... OMIM:619487
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ab... OMIM:601376
Seizures-Scoliosis-Macrocephaly Syndrome
Broad-based gait, Overlapping toe, Constipation, Gastroesophageal reflux, Reduced bone mineral de... ORPHA:466926
Pseudoachondroplasia
Irregular carpal bones, Platyspondyly, Small epiphyses of the phalanges of the hand, Flared femor... OMIM:177170
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Severe intrauterine growth retardation, Hyperinsul... ORPHA:508
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Prader-Willi Syndrome
Hyperinsulinemia, Osteopenia, Genu valgum, Intrauterine growth retardation, Adrenal insufficiency... OMIM:176270
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Greenberg Dysplasia
Anterior rib punctate calcifications, Hepatomegaly, Short metacarpal, Horizontal sacrum, Platyspo... OMIM:215140
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Lysinuric Protein Intolerance
Failure to thrive, Pancreatitis, Hepatic amyloidosis, Decreased response to growth hormone stimul... ORPHA:470
Aggressive Systemic Mastocytosis
Decreased liver function, Malabsorption, Hepatosplenomegaly, Diarrhea, Osteoporosis, Pathologic f... ORPHA:98850
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Talipes equinovarus, Cleft palate, Increased intervertebral space, Horizont... OMIM:256050
Cystinosis
Nephrogenic diabetes insipidus, Malabsorption, Short stature, Vomiting, Hypothyroidism, Gait dist... ORPHA:213
Lowry-Maclean Syndrome
High, narrow palate, Abnormality of the abdominal organs, Craniosynostosis, Cleft palate, Osteope... ORPHA:2409
Reynolds Syndrome
Hepatomegaly, Steatorrhea, Splenomegaly, Gastrointestinal hemorrhage, Jaundice, Biliary cirrhosis OMIM:613471
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Aromatase Deficiency
Delayed epiphyseal ossification, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Osteo... ORPHA:91
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
High palate, Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies... ORPHA:93315
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Osteogenesis Imperfecta, Type Xvii
Short stature, Platyspondyly, Scoliosis, Osteoporosis, Thin metacarpal cortices, Vertebral compre... OMIM:616507
Craniometadiaphyseal Dysplasia, Wormian Bone Type
High palate, Wide anterior fontanel, Increased bone mineral density, Osteopenia, Broad femoral ne... ORPHA:85184
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Flat distal femoral epiphysis, Short stature, Platyspondyly, Broad femoral neck, Short... OMIM:609324
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Recurrent fractures, Joint laxity, Osteoporosis, Short stature OMIM:248010
Heart Defects, Congenital, And Other Congenital Anomalies
Failure to thrive, Colon perforation, Biliary atresia, Intestinal malrotation, Glycosuria, Pancre... OMIM:600001
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Osteopenia, Osteoporosis, Difficulty walking, Gait ataxia ORPHA:529665
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the ovary, Decreased serum testosterone concentration, Cryptorchidism, Cleft palate... ORPHA:432
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Short stature ORPHA:329249
Perrault Syndrome 4
Hypoplasia of the ovary, Cleft palate, Osteoporosis, Gait ataxia, Decreased serum estradiol, Incr... OMIM:615300
Werner Syndrome
Reduced bone mineral density, Short stature, Elevated circulating aspartate aminotransferase conc... OMIM:277700
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Severe short stature, Cleft palate, Club-shaped proximal fem... OMIM:184250
Immunodeficiency 54
Adrenal insufficiency, Failure to thrive, Adrenocorticotropic hormone excess, Hepatomegaly, Splen... OMIM:609981
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Short stature, Decreased body weight, Decreased testicular size, Steatorrhea OMIM:601347
Bile Acid Conjugation Defect 1
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:619232
Axial Spondylometaphyseal Dysplasia
Flattened femoral head, Coxa vara, Thoracic scoliosis, Delayed ossification of carpal bones, Mild... ORPHA:168549
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... OMIM:300009
Werner Syndrome
Joint stiffness, Type II diabetes mellitus, Thyroid carcinoma, Increased bone mineral density, Ov... ORPHA:902
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Tyrosinemia Type 1
Rickets of the lower limbs, Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular car... ORPHA:882
Hajdu-Cheney Syndrome
High palate, Dislocated radial head, Kyphoscoliosis, Crowded carpal bones, Short stature, Intesti... OMIM:102500
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Femoral bowing, Biconcave vertebral bodies, Thin bony cortex, Joint laxity, ... OMIM:617952
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Osteopenia, Cholestasis, Chronic ... ORPHA:171
Familial Isolated Hyperparathyroidism
Parathyroid adenoma, Elevated circulating parathyroid hormone level, Osteopenia, Primary hyperpar... ORPHA:99879
Dyskeratosis Congenita
Neoplasm of the pancreas, Recurrent fractures, Malabsorption, Intrauterine growth retardation, He... ORPHA:1775
Dystonia 31
Dysphagia, Difficulty walking, Abnormal posturing OMIM:619565
Autosomal Dominant Progressive External Ophthalmoplegia
Glucose intolerance, Ataxia, Bradykinesia, Constipation, Hyperthyroidism, Gastroesophageal reflux... ORPHA:254892
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Wide anterior fontanel, Abnormal bone ossification, Abnormal femoral neck/head morph... ORPHA:163649
Estrogen Resistance
Osteopenia, Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Malabsorption, Spinal can... ORPHA:289176
Juvenile Paget Disease
Recurrent fractures, Short stature, Osteoporosis, Bowing of the long bones, Coarse metaphyseal tr... ORPHA:2801
Oculodentodigital Dysplasia
Ataxia, Clinodactyly of the 5th finger, Finger syndactyly, Cleft palate, Camptodactyly of finger,... ORPHA:2710
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Intrauterine growth retardation, Ataxia, Intestinal bleeding, Short stature, Metaphyseal sclerosi... OMIM:612199
Pituitary Stalk Interruption Syndrome
Failure to thrive, Short stature, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism,... ORPHA:95496
Macs Syndrome
High palate, Short stature, Hypergonadotropic hypogonadism, Scoliosis, Osteoporosis, Brachydactyl... OMIM:613075
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Disproportionate short-limb short stature, Decreased calvarial oss... OMIM:259440
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Short stature, Platyspondyly, Abnormal metaphysis mor... ORPHA:93304
Hyperzincemia With Functional Zinc Depletion
Diarrhea, Hepatomegaly, Osteoporosis OMIM:601979
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Osteopenia, Diarrhea, Gout, Hepatocellular adenoma, Polycystic ovarie... ORPHA:79259
Premature Aging Syndrome, Okamoto Type
Osteoporosis, Diabetes mellitus OMIM:601811
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Nail-Patella Syndrome
Abnormality of femur morphology, Proximal finger joint hyperextensibility, Limited pronation/supi... ORPHA:2614
Prolactinoma
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Elevated circulating ... ORPHA:2965
Galactosemia
Gait imbalance, Ataxia, Hepatomegaly, Reduced bone mineral density, Hepatic failure, Cirrhosis, D... ORPHA:352
46,Xx Gonadal Dysgenesis
Ataxia, Streak ovary, Reduced bone mineral density, Osteopenia, Short stature, Arachnodactyly, De... ORPHA:243
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Cleft palate, Symphalangism affecting the phalanges of the hand, Hypogonadism, A... ORPHA:2658
Ollier Disease
Joint stiffness, Precocious puberty, Platyspondyly, Micromelia, Osteolysis, Abnormal metaphysis m... ORPHA:296
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Precocious puberty, Postnatal growth retardation, Cleft palate, Small for gestationa... ORPHA:96184
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Platyspondyly, Distal tibial bowing, Genu valgum, Proporti... OMIM:156500
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Kyphosis, Wide anterior fontanel, Disproportionate short-limb short stature,... OMIM:259420
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618187
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Osteopenia, Vomiting, Cholestasis, Thin bony cortex, Esophageal varix, Bile duct pro... OMIM:613658
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Occipital Horn Syndrome
Hiatus hernia, Osteopenia, Platyspondyly, Humerus varus, Cholestasis, Abnormality of fibula morph... ORPHA:198
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Short stature, Small han... ORPHA:85172
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Ataxia, Osteopenia, Scoliosis, Osteoporosis, Hypoplasia of the ulna, Patent ductus a... OMIM:615398
Isolated Biliary Atresia
Failure to thrive, Hepatomegaly, Periportal fibrosis, Severe failure to thrive, Splenomegaly, Sma... ORPHA:30391
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Severe short stature, Platyspondyly, Micromelia, Short palm, Limitation of joint mobility ORPHA:168555
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... ORPHA:289548
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Bowing of the legs, Kyphoscoliosis, Short stature, Platyspondyly, ... OMIM:612847
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, High palate, Kyphoscoliosis, Talipes equinovarus, Short stature, Small hand, Os... OMIM:268400
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Vomiting, Cholestasis, Esophageal varix, Prolonged neonatal jaundi... OMIM:301068
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
High palate, Joint stiffness, Tibial bowing, Flexion contracture, Absent ossification of capital ... OMIM:245160
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... ORPHA:168558
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Diamond-Blackfan Anemia 7
Cleft palate, Osteopenia, Scoliosis, Osteoporosis, Triphalangeal thumb, Patent ductus arteriosus,... OMIM:612562
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Osteopenia, Hypogonadotropic hypogonadism, Scoliosis, Osteoporosis, Bicoronal synostosi... OMIM:619718
Sickle Cell Anemia
Osteomyelitis, Abnormality of the spleen, Osteoporosis, Cholestasis, Pigment gallstones ORPHA:232
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Wide anterior fontanel, Hepatomegaly, Hiatus hernia, Splenomegaly, Osteopenia, Congenital hypothy... OMIM:610199
Stuve-Wiedemann Syndrome 1
Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the proximal interphalangea... OMIM:601559
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short stature ORPHA:93302
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Increased bone mineral density OMIM:618406
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphoscoliosis, Metaphyseal dysplasi... ORPHA:93316
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphysis... ORPHA:1427
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Short stature, Glycosuria, Hypoglycemia, Elevated hepatic transaminase, Diabetes me... OMIM:616026
Spondyloepiphyseal Dysplasia, Kimberley Type
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum, Proportionate short stature OMIM:608361
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Coxa vara, Lumbar hyperlordosis, Talipes equinovarus, Cleft palate, Atlantoaxial instab... OMIM:183900
Hajdu-Cheney Syndrome
Hepatomegaly, Cleft palate, Osteopenia, Short neck, Biconcave vertebral bodies, Osteolysis, Bowin... ORPHA:955
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing ... OMIM:307800
Osteogenesis Imperfecta
Abnormality of femur morphology, Ataxia, Constipation, Osteopenia, Femoral bowing, Biconcave vert... ORPHA:666
Idiopathic Hypercalciuria
Osteopenia, Osteoporosis ORPHA:2197
Autosomal Recessive Kenny-Caffey Syndrome
Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Stenosis ... ORPHA:93324
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Femoral... OMIM:608940
Refractory Celiac Disease
Malabsorption, Osteoporosis, Abnormal spleen physiology, Elevated hepatic transaminase, Villous a... ORPHA:398063
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Bone cyst, Hepatomegaly, Macroglossia, Cirrhosis... ORPHA:528
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Metaphyseal dysplasia, Decreased response to growth hormone stimulation test, Craniosynostosis, O... OMIM:614732
Analbuminemia
Patent ductus arteriosus, Osteoporosis OMIM:616000
Proprotein Convertase 1/3 Deficiency
Malabsorption, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Diarrhea, Rea... OMIM:600955
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Platyspondyly, Scoliosis ORPHA:3180
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morpholo... ORPHA:2470
Infantile Liver Failure Syndrome 3
Abnormality of the epiphysis of the femoral head, Beaking of vertebral bodies, Hypoplastic verteb... OMIM:618641</