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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
Central hypothyroidism, Hepatomegaly, Growth delay, Short stature, Abnormality of the liver, Hypo... ORPHA:1667
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Irregular tarsal ossification, High palate, Short stature, Irregular vertebral endp... 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
Diabetes mellitus, Type I 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
Diabetes mellitus, Type I 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
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Pancreatic Agenesis 1
Pancreatic hypoplasia, Intrauterine growth retardation, Failure to thrive, Diabetes mellitus, Exo... OMIM:260370
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... 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
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Steatorrhea, Short stature OMIM:618752
Mody
Pancreatic hypoplasia, Intrauterine growth retardation, Insulin-resistant diabetes mellitus, Hype... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Steatorrhea, Diabetes mellitus, Ex... OMIM:167800
Pancreatic Agenesis 2
Pancreatic hypoplasia, Steatorrhea, Small for gestational age OMIM:615935
Pancreatic Colipase Deficiency
Cholelithiasis, Chronic diarrhea, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption ORPHA:309108
Bile Acid Malabsorption, Primary, 1
Growth delay, Failure to thrive, Chronic diarrhea, Steatorrhea, Increased fecal bile acid, Fat ma... OMIM:613291
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Intrauterine growth retardation, Small for gestational age, Hyperglycemia, Dia... ORPHA:99886
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Growth delay... ORPHA:171706
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Failure to thrive, Splenomegaly, Steatorrhea, Exocrine pancreatic insufficiency, Ja... OMIM:612714
Secondary Short Bowel Syndrome
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... ORPHA:95427
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Hyperglycemia, Intraut... OMIM:615710
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Abnormal intestine morphology, Celiac disease, Short stature, Achalasia, Hepatosplenomegaly, Type... OMIM:615952
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Malabsorption, Exocrine pancreatic insufficiency ORPHA:586
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Congenital Short Bowel Syndrome
Vomiting, Failure to thrive, Congenital shortened small intestine, Abnormal peristalsis, Intestin... OMIM:615237
Wolman Disease
Hepatomegaly, Adrenal insufficiency, Cachexia, Esophageal varix, Growth delay, Splenomegaly, Stea... ORPHA:75233
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Peritoneal abscess, Functional intestinal obstruction, Weight loss... ORPHA:1333
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Severe failure to thrive, Intrauterine growth retardation, Transient neonatal diab... OMIM:601410
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short stature, Hyperinsulinemic hypoglycemia, Osteoporosis, Scoliosis, Short neck, Delayed thelar... OMIM:616033
Autoimmune Polyendocrine Syndrome, Type Ii
Type II diabetes mellitus, Asplenia, Chronic hepatitis, Hepatitis, Primary adrenal insufficiency,... OMIM:269200
Shwachman-Diamond Syndrome 2
Hepatomegaly, High palate, Short stature, Failure to thrive, Hyperechogenic pancreas, Steatorrhea... OMIM:617941
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Contractures involving the joints of the feet, Hepatomegaly, Mild postnatal growth retardation, A... ORPHA:456312
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Hypoglycemia, Decreased serum insulin-like growth factor 1, Vomiting,... ORPHA:314811
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... ORPHA:1802
Johanson-Blizzard Syndrome
Intrauterine growth retardation, Short stature, Failure to thrive, Malabsorption, Anal atresia, A... ORPHA:2315
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Acute pancreatitis, Hypertrigly... OMIM:608600
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Hypocholesterolemia, Splen... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... OMIM:613812
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Malabsorption, Hypohidrosis, Exocrine pancreatic insufficiency, Cryptorchi... ORPHA:452
Chylomicron Retention Disease
Growth delay, Vomiting, Failure to thrive, Hypocholesterolemia, Increased hepatocellular lipid dr... ORPHA:71
Chylomicron Retention Disease
Growth delay, Vomiting, Failure to thrive, Hypocholesterolemia, Steatorrhea, Diarrhea OMIM:246700
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Congenital Tufting Enteropathy
Villous atrophy, Vomiting, Failure to thrive, Weight loss, Malabsorption, Cholestatic liver disea... ORPHA:92050
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Osteoporosis, Hypogona... ORPHA:79230
Donohue Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Hepatic fibrosis, Hyperglycemia, Precociou... OMIM:246200
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Adrenal insufficiency, Increased hepatic echogenicity, Hepatic fibrosis, Esophageal... OMIM:278000
Isolated Glycerol Kinase Deficiency
Short stature, Osteoporosis, Hyperlordosis, Cryptorchidism, Scoliosis, Adrenocortical hypoplasia ORPHA:408
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Short stature, Failure to thrive, Hepatic steatosis, Steatorrhea,... OMIM:616263
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, High palate, Small for gestational age, Short stature, Insuli... OMIM:262190
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Failure to thrive, Splenomegaly, Steatorrhea, Intrahepatic cholestasis, Diarrhea, J... OMIM:235555
Somatostatinoma
Increased circulating cortisol level, Neoplasm of the small intestine, Primary hyperparathyroidis... ORPHA:97283
Wolcott-Rallison Syndrome
Central hypothyroidism, Hepatomegaly, Growth delay, Short stature, Abnormality of the liver, Hypo... ORPHA:1667
Mahvash Disease
Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent... OMIM:619290
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Osteoporosis, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis OMIM:618234
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of the... ORPHA:2790
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... ORPHA:369
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Dysplastic Cortical Hyperostosis
Hepatomegaly, Short stature, Limb undergrowth, Abnormality of limb bone morphology, Abnormal cort... ORPHA:2204
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Hepatomegaly, Proximal femoral metaphyseal irregular... OMIM:260400
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Failure to thrive,... ORPHA:79303
Hypercholanemia, Familial 1
Failure to thrive, Steatorrhea, Fat malabsorption OMIM:607748
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypoglycemia, Severe postnatal growth retardation, Short stature, Pituitar... OMIM:262700
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... ORPHA:276575
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Pituitary dwarfism, Severe short stature, Impaired growth-hormone response to insul... OMIM:262400
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hepatomegaly, Hypocholesterolemia, Steatorrhea OMIM:266510
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:276580
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Metaphyseal dysplasia, Growth delay, Short stature, Kyphoscoliosis, Osteoporosis, D... OMIM:614727
Isolated Sedoheptulokinase Deficiency
Severe postnatal growth retardation, Short stature, Hepatitis, Cholestatic liver disease, Steator... ORPHA:440713
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Cleft palate, Micromelia, Abnormal form of the vertebral... ORPHA:2635
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Abnormality of the fifth metatarsal bone, Abnormality of the third metata... ORPHA:564003
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Insulinoma
Neuroendocrine neoplasm, Zollinger-Ellison syndrome, Neoplasm of the adrenal gland, Hyperinsuline... ORPHA:97279
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Osteoporosis, Gout, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, High palate, Hypoglycemia, Failure to thrive in i... OMIM:619418
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Anal atresia OMIM:260450
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Growth delay, Short stature, Osteoporosis, Pathologic fractu... OMIM:307030
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Intrauterine growth retardation, Short stature, Dysmetria, Hypogonadotropic hypogon... ORPHA:48431
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Bone Marrow Failure Syndrome 3
Metaphyseal dysplasia, Intrauterine growth retardation, Short stature, Reduced bone mineral densi... OMIM:617052
Shashi-Pena Syndrome
Osteoporosis, Hypoglycemia, Scoliosis, Kyphosis OMIM:617190
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Growth delay, Failure to thrive, Decreased response to growth horm... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Growth delay, Failure to thrive, Decreased response to growth horm... ORPHA:71526
Glucagonoma
Stomatitis, Increased circulating cortisol level, Primary hyperparathyroidism, Gastrointestinal h... ORPHA:97280
Homozygous 11P15-P14 Deletion Syndrome
Abnormal intestine morphology, Hypoglycemia, Vomiting, Failure to thrive, Diarrhea, Hyperinsulinemia OMIM:606528
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Colitis, Weight loss, Steatorrhea, Exocrine pancreatic insufficiency, Diarrhea ORPHA:309031
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... ORPHA:276556
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Osteoporosis, Delayed puberty, Osteopenia OMIM:615270
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Truncal obesity, Postnatal growth retardation, Abdominal obesity, Decreased respon... OMIM:618160
Shwachman-Diamond Syndrome
Hepatomegaly, Pancreatic hypoplasia, Growth delay, Short stature, Proximal femoral epiphysiolysis... ORPHA:811
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Deeah Syndrome
Hepatomegaly, Dysphagia, High palate, Intrauterine growth retardation, Decreased circulating free... OMIM:619004
Eosinophilic Gastroenteritis
Dysphagia, Vomiting, Weight loss, Malabsorption, Steatorrhea, Abnormality of the gastrointestinal... ORPHA:2070
Perrault Syndrome 1
High palate, Short stature, Talipes equinovarus, Osteoporosis, Increased circulating gonadotropin... OMIM:233400
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Irregular tarsal ossification, High palate, Short stature, Irregular vertebral endp... OMIM:226980
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Bile Acid Malabsorption, Primary, 2
Prolonged neonatal jaundice, Steatorrhea, Periportal fibrosis, Chronic diarrhea OMIM:619481
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia, Bilateral cleft lip and palate, Intestinal malrotation, Large ... OMIM:601165
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Classic Galactosemia
Lethargy, Hepatomegaly, Gait disturbance, Dystonia, Hypoglycemia, Decreased serum insulin-like gr... ORPHA:79239
Ck Syndrome
High palate, Abnormal cortical bone morphology, Kyphosis, Joint hypermobility, Hyperactivity, Abn... OMIM:300831
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:324575
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... ORPHA:453533
Hypergonadotropic Hypogonadism-Cataract Syndrome
Short stature, Osteoporosis, Secondary growth hormone deficiency, Absence of secondary sex charac... ORPHA:2410
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Short stature, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly OMIM:264010
Premature Ovarian Failure 2B
Osteoporosis, Delayed puberty, Premature ovarian insufficiency OMIM:300604
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Lethargy, Cholangiocarcinoma, Hepatocellular carcinoma, Hypergl... ORPHA:465508
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Tapered finger, Abnormal cortical bone morphology, Reduced bone mineral dens... ORPHA:970
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Osteoporosis, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, ... ORPHA:79301
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Cirrho... OMIM:604367
Celiac Disease, Susceptibility To, 1
Celiac disease, Stomatitis, Failure to thrive, Vomiting, Weight loss, Short stature, Thyroiditis,... OMIM:212750
Pearson Syndrome
Adrenal insufficiency, Splenomegaly, Postnatal growth retardation, Steatorrhea, Diabetes mellitus... ORPHA:699
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, Back pain, Kyphosis, O... OMIM:271530
Cystic Fibrosis
Hepatomegaly, Rectal prolapse, Failure to thrive, Pancreatitis, Cirrhosis, Hepatosplenomegaly, St... OMIM:219700
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes m... ORPHA:79084
Chondroectodermal Dysplasia With Night Blindness
Gait disturbance, Metaphyseal dysplasia, Short stature, Fractures of the long bones, Osteoporosis... ORPHA:319195
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Osteoporosis, Contractures of the large joints, Short stature OMIM:608278
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Broad hallux phalanx, Hyperglycemia, 3-4 finger syndactyly, Broad thumb, Cran... OMIM:175700
Infantile Systemic Hyalinosis
Growth delay, Failure to thrive, Polycystic ovaries, Malabsorption, Severe short stature, Abnorma... ORPHA:2176
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Short stature, Hypogonadism, Postnatal growth retardation OMIM:616113
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Growth delay, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Immunodeficiency 12
Osteoporosis, Growth delay OMIM:615468
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Proteus Syndrome
Mandibular hyperostosis, Spinal canal stenosis, Thin bony cortex, Kyphoscoliosis, Splenomegaly, C... OMIM:176920
Sialidosis Type 2
Hepatomegaly, Short stature, Osteoporosis, Splenomegaly, Kyphosis, Ataxia, Flexion contracture ORPHA:87876
Cystinosis, Nephropathic
Hepatomegaly, Dysphagia, Growth delay, Short stature, Rickets, Metaphyseal widening, Glycosuria, ... OMIM:219800
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Growth delay, Hepatocellular carcinoma, Increased hepatic gly... ORPHA:2088
Rothmund-Thomson Syndrome, Type 1
Short stature, Osteoporosis, Male hypogonadism, Hypothyroidism, Premature ovarian insufficiency OMIM:618625
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Failure to thrive, Diabetes mellitus OMIM:609069
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Osteoporosis, Kyphosis, Hypogonadism, Hepatic steatosis, Diabet... OMIM:615381
Sclerosteosis
Diaphyseal thickening, Abnormal cortical bone morphology, Finger syndactyly, Curved distal phalan... ORPHA:3152
Flynn-Aird Syndrome
Increased bone density with cystic changes, Kyphoscoliosis, Osteoporosis, Ataxia, Increased bone ... OMIM:136300
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Short stature, Kyphosis ORPHA:2786
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Vomiting, Increased hepatic glycoge... ORPHA:263455
Pseudoachondroplasia
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... ORPHA:750
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... ORPHA:2298
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Genu varum, Metaphyseal dysplasia, Short stature, Platyspondyly, Waddling gait, Delayed ossificat... OMIM:617974
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Coxa valga, Finger clinodactyly, Cryptorchidism, Bilateral talipes equinovarus ORPHA:2958
Orofaciodigital Syndrome Type 1
Cleft palate, Hamartoma of tongue, Reduced bone mineral density, Foot polydactyly, Deviation of f... ORPHA:2750
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... OMIM:277950
Prieto X-Linked Mental Retardation Syndrome
Talipes equinovarus, Osteoporosis, Radial deviation of finger, Coxa valga, Cryptorchidism, Clinod... OMIM:309610
Pseudopseudohypoparathyroidism
Short stature, Short metatarsal, Osteoporosis, Short metacarpal, Pseudohypoparathyroidism, Short ... OMIM:612463
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Extensor Tendons Of Finger Anomalies
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger ORPHA:3294
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Increased hepat... OMIM:220111
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Thyroid carcinoma, Short stature, Fibrous dysplasia of the bones, Ricket... ORPHA:249
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancrea... ORPHA:93111
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Congenital hypothyroidism, Small for gestational age, Intrauterine growth ... ORPHA:2255
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Genu varum, Limb undergrowth, Metaphyseal irregularity, Delayed epiphyseal ossifica... OMIM:602557
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Splenomegaly, Cirrhosis, Accessory spleen, Hep... OMIM:300972
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Flexion contracture OMIM:618856
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Intervertebral space narrowing, Gait disturbance, Broad ti... OMIM:271630
Forsythe-Wakeling Syndrome
Osteoporosis, Growth delay, Short stature OMIM:613606
Osteogenesis Imperfecta, Type Xii
High palate, Short stature, Osteoporosis, Scoliosis, Generalized osteoporosis OMIM:613849
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Hypoglycemia, Intrauterine growth retardation, Short stat... ORPHA:73272
Weismann-Netter Syndrome
Abnormality of the ulna, Tibial bowing, Abnormality of femur morphology, Fibular bowing, Bowing o... ORPHA:3344
Brachydactylous Dwarfism, Mseleni Type
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... ORPHA:2619
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Short stature, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Abnormality o... ORPHA:2089
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... ORPHA:53697
Bruck Syndrome 1
Ankle flexion contracture, Hip contracture, Short stature, Vertebral wedging, Talipes equinovarus... OMIM:259450
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Vertebral wedging, Mild short stature, Platyspondyly, Adv... OMIM:617719
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Flattened femoral head, Abnormal intervertebral disk morphol... ORPHA:99642
Progressive Pseudorheumatoid Dysplasia
Enlargement of the proximal femoral epiphysis, Enlarged metacarpophalangeal joints, Genu varum, D... OMIM:208230
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Glucose intolerance, Impaired glucos... OMIM:137920
Mu-Heavy Chain Disease
Hepatomegaly, Osteoporosis, Splenomegaly, Osteolysis ORPHA:100024
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Broad femoral neck, Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, I... OMIM:609223
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Osteoporosis, Short distal phalanx of finger, Joint hyperflexibility ORPHA:2787
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the carpal bones, Gait disturbance, Upper limb undergrowth, Short metatarsal, Oste... ORPHA:93351
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... ORPHA:93284
Warburg Micro Syndrome 1
Short stature, Kyphoscoliosis, Osteoporosis, Joint hypermobility, Cryptorchidism, Overlapping toe OMIM:600118
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Recurrent fractures, Osteoporosis OMIM:256720
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Short 1st metacarp... OMIM:251450
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Vomiting, Rickets, Osteoporosis, Ataxia, Diabetes mellitus, Type I diabetes mellitu... OMIM:560000
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Genu varum, Short stature, Abnormality of hand joint mobility, ... ORPHA:1159
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Ovarian Dysgenesis 1
Osteoporosis, Increased circulating gonadotropin level OMIM:233300
Hall-Riggs Mental Retardation Syndrome
Metaphyseal dysplasia, Intrauterine growth retardation, Irregular vertebral endplates, Osteoporos... OMIM:234250
Diabetes Mellitus, Permanent Neonatal, 1
Intrauterine growth retardation, Small for gestational age, Hyperglycemia, Diabetes mellitus, Typ... OMIM:606176
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal widening, Metaphyseal irregularity, Disproportionate short-limb short stature, Platys... OMIM:609052
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Flexion contracture of toe, Short stature, Osteoporosis, Kyphosis, Hypogonadism, ... ORPHA:3409
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Osteopenia ORPHA:397685
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Osteoporosis, Diabetes mellitus, Cryptorchidism, Decreased testicu... OMIM:610628
Estrogen Resistance Syndrome
Absence of pubertal development, Osteoporosis, Glucose intolerance, Delayed epiphyseal ossificati... ORPHA:785
Eiken Syndrome
Limited elbow flexion, Thin bony cortex, Short stature, Metaphyseal irregularity, Fibular hypopla... ORPHA:79106
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flared humeral metaphysis, Long coccyx, Short finger, Art... OMIM:156530
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Short stature, Broad thumb, Generalized joint laxity, Broad phalanx, Short 5t... ORPHA:508498
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Intrauterine growth retardation, Hyperglycemia, Failure to thrive, Weight ... ORPHA:99885
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Constipation, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Propionic Acidemia
Hepatomegaly, Dystonia, Hypoglycemia, Short stature, Vomiting, Osteoporosis, Pancreatitis, Consti... OMIM:606054
Greenberg Dysplasia
Severe short-limb dwarfism, Anterior rib punctate calcifications, Rhizomelia, Abnormal form of th... ORPHA:1426
Bile Acid Synthesis Defect, Congenital, 6
Steatorrhea OMIM:617308
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Second metatarsal posteriorly placed, Kyphoscoliosis, Osteoporosis, Arthrogry... OMIM:214150
Hyaline Fibromatosis Syndrome
Osteoporosis, Osteopenia, Progressive flexion contractures, Diarrhea, Osteolysis OMIM:228600
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Dysphagia, Toe syndactyly, Hypoglycemia, Intrauterine growth retardation, Cone-shap... OMIM:618958
Anauxetic Dysplasia 1
Cervical subluxation, Short finger, Rhizomelia, Short toe, Platyspondyly, Flared metaphysis, Dela... OMIM:607095
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Osteolysis involving bones of the lower limbs, Increased susceptibility to fra... ORPHA:371428
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Tapered finger, Short finger, Platyspondyly, Knee flexion contracture, Severe sh... OMIM:313420
Osteogenesis Imperfecta, Type Xiii
Short stature, Kyphoscoliosis, Osteoporosis, Platyspondyly, Dislocated radial head, Arachnodactyl... OMIM:614856
Progeria-Short Stature-Pigmented Nevi Syndrome
Short stature, Episodic vomiting, Insulin-resistant diabetes mellitus, Elevated hepatic transamin... ORPHA:2959
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Osteoporosis... OMIM:615830
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, High palate, Hypoplastic nipples, Macroglossia, Cholelithiasis, Splenomegaly, Chron... OMIM:618268
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Short stature, Short metatarsal, Osteoporosis, Hy... OMIM:612462
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Hypogonadotropic hypogonadism, Osteop... OMIM:235200
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Metaphyseal Chondrodysplasia, Spahr Type
Gait disturbance, Short lower limbs, Genu varum, Metaphyseal dysplasia, Bowing of the long bones,... ORPHA:2501
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Short stature, Abnormal vertebral morphology, Restricted large joint movement, Platyspondyly, Dis... ORPHA:163665
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Osteoporosis
Osteoporosis OMIM:166710
Spondyloepiphyseal Dysplasia Congenita
Upper limb undergrowth, Cleft palate, Dysplasia of the femoral head, Reduced bone mineral density... ORPHA:94068
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Biconcave vertebral bodies, High palate, Kyphoscoliosis, Osteoporosis, Pancreatitis, Arachnodacty... OMIM:236200
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Cachexia, Hepatic fibrosis, Esophageal varix, Vomiting, Failure... ORPHA:275761
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Tibial bowing, Thin bony cortex, Growth delay, Fi... OMIM:264700
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Short stature, Short finger, Short metatarsal, Os... OMIM:103580
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Platyspondyly, Reduced bone mineral density, Genu va... OMIM:265900
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Bone cyst, Genu varum, Short stature, Abnormal form of the vertebral bodies, Ab... ORPHA:93160
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Hepatomegaly, Dysphagia, Insulin resistance, Osteoporosis, Ileus, Splenomegaly,... OMIM:613327
Dystonia 31
Arm dystonia, Dysphagia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized d... OMIM:619565
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Failure to thrive, Malabsorption, Diabetes mellitus, Type I diabetes m... OMIM:557000
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating parathyroid hormone level, Genu varum, Thin bony cortex, Generalized bone de... OMIM:600785
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short 5th metacarpal, Short stature, Multiple small vertebral fractures, P... OMIM:156510
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
High palate, Hypoglycemia, Small for gestational age, Short stature, Neonatal hypoglycemia, Postn... ORPHA:231140
Bangstad Syndrome
Intrauterine growth retardation, Short stature, Increased circulating cortisol level, Polycystic ... ORPHA:1227
Gorham-Stout Disease
Abnormality of femur morphology, Osteolysis involving bones of the lower limbs, Torticollis, Oste... ORPHA:73
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Short stature, Failure to thrive, Splenomegaly, Cirrhosis... OMIM:601847
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Cervical subluxation, Metaphyseal widening, Pointed proximal second through fifth m... OMIM:253000
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating parathyroid hormone level, Tibial bowing, Thin bony cortex, Growth delay, Fi... OMIM:277440
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Hip osteoarthritis, Short stature, Irregular vertebral endplates, Beaking of ver... OMIM:604864
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Osteolytic ... OMIM:608612
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Cervical subluxation, Metaphyseal widening, Pointed proximal second through fifth m... OMIM:253010
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Hepatosplenomegaly, Fibular overgrowth, Narrow vertebral in... ORPHA:93352
Beta-Thalassemia Intermedia
Hepatomegaly, Hypoparathyroidism, Adrenal insufficiency, Elevated hepatic iron concentration, Hep... ORPHA:231222
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Short stature, Abnormal cortical bone morphology, Pathologic fracture, Sh... ORPHA:166277
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose tolerance, Oste... OMIM:248370
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Genu varum, Thin bony cortex, Tibial bowing, Shor... ORPHA:289157
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Vomiting, Failure to thrive, Primary adrenal insufficiency, Hypogonad... OMIM:617872
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Maternal diabetes, Cervical instability, Laryngotracheomalacia, Abnormal vertebral morphology, Ap... ORPHA:93346
Pachydermoperiostosis
Hepatomegaly, Genu varum, Clubbing of toes, Osteoporosis, Small hand, Abnormal cortical bone morp... ORPHA:2796
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Unsteady gait, Type II diabetes mellitus OMIM:520000
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Short stature, Cholelithiasis, Abnormal cortical bone morphology, Patent ductus art... OMIM:614886
Short Stature, Dauber-Argente Type
Short stature, Decreased fibular diameter, Long fingers, Arachnodactyly, Reduced bone mineral den... OMIM:619489
Osteogenesis Imperfecta, Type V
Biconcave vertebral bodies, Limited pronation/supination of forearm, Short stature, Vertebral wed... OMIM:610967
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Short stature, Abnormal femoral neck/head morphology, Metaph... ORPHA:2788
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Short stature, Vo... ORPHA:79240
Odontochondrodysplasia 1
Mesomelic short stature, Metaphyseal cupping, Genu varum, Micromelia, Coronal cleft vertebrae, Sh... OMIM:184260
Methylcobalamin Deficiency Type Cble
Intrauterine growth retardation, Vomiting, Osteoporosis, Clinodactyly, Abnormality of the liver, ... ORPHA:2169
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Glycosuria OMIM:618857
Stüve-Wiedemann Syndrome
Short stature, Talipes equinovarus, Thickened cortex of long bones, Camptodactyly of finger, Elbo... ORPHA:3206
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Absent or minimally ossified vertebral bodies, Cleft palate,... ORPHA:1190
Necrotizing Enterocolitis
Bloody diarrhea, Small for gestational age, Peritonitis, Hyperglycemia, Vomiting, Abnormal glucos... ORPHA:391673
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age OMIM:618858
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... OMIM:219080
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Cervical platyspondyly, Genu varum, Increased intervertebral... ORPHA:93314
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Vomiting, Failure to thrive, Hyperinsulinemic hy... OMIM:602579
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Hepatic ste... ORPHA:280356
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Intrauterine growth retardation, Growth delay, Cleft palate, Long fing... ORPHA:447980
Lethal Congenital Contracture Syndrome Type 1
Short stature, Abnormal form of the vertebral bodies, Abnormal cortical bone morphology, Short ne... ORPHA:1486
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Tenorio Syndrome
Gait disturbance, Hypoglycemia, Stomatitis, Macroglossia, Osteopenia, Gastroesophageal reflux, Hy... OMIM:616260
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Hypoglycemia, Growth delay, Hypogonadotropic hypogonadism, Pituitary hy... ORPHA:95619
Wilson Disease
Hepatomegaly, Hypoparathyroidism, Dystonia, Dysphagia, Esophageal varix, Hepatocellular carcinoma... OMIM:277900
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Coxa valga, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Joint stiffness OMIM:616583
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Short stature, Hypogonadotropic hypogonadism, Osteoporosis, Secondary growth hormone deficiency, ... ORPHA:2235
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, High palate, Osteoporosis, Cryptorchidism, Thoracic scoliosis, Short neck, Osteoar... OMIM:618000
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Hypercholes... OMIM:151660
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Platyspondyly, Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irre... OMIM:618728
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Flat capital femoral epiphysis, Short stature, Irregular vertebral endplates, Tapere... OMIM:612350
Beckwith-Wiedemann Syndrome
Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Hypoglycemia, Cleft palate, Ma... ORPHA:116
Schwartz-Jampel Syndrome, Type 1
Anterior bowing of long bones, Shoulder flexion contracture, Hip contracture, Flexion contracture... OMIM:255800
Multiple Epiphyseal Dysplasia, Beighton Type
Short stature, Abnormal lumbar spine morphology, Thoracic scoliosis, Antalgic gait, Abnormality o... ORPHA:166011
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Short statur... ORPHA:264580
Bruck Syndrome
Short stature, Talipes equinovarus, Bowing of the long bones, Osteoporosis, Arthrogryposis multip... ORPHA:2771
Greenberg Dysplasia
Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Multiple prenatal fractures,... OMIM:215140
Abetalipoproteinemia
Hepatomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, Hypocholesterolemia, Cirrhosis, Hepa... ORPHA:14
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Femoral bowing, Proximal femoral me... ORPHA:174
Grant Syndrome
Short stature, Bowing of the long bones, Abnormal cortical bone morphology, Decreased skull ossif... ORPHA:2097
Dyssegmental Dysplasia With Glaucoma
Cleft palate, Hip contracture, Short stature, Platyspondyly, Delayed epiphyseal ossification, Wid... OMIM:601561
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Platyspondyly, Short stature ORPHA:71267
Martinez-Frias Syndrome
Pancreatic hypoplasia, Duodenal atresia, Intrauterine growth retardation, Annular pancreas, Intes... OMIM:601346
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Biliary tract obstruction, Gastritis, Meconium ileus, Exocrine pancreatic insufficiency, Biliary ... OMIM:219721
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Growth delay, Increased hepatic glycogen conten... OMIM:613027
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Short stature, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahep... OMIM:211600
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Short stature, Rhizomelia, Platyspondyly, Splenomegaly... OMIM:602271
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, Hyperinsulinemic hypoglycemia, Gastr... ORPHA:79319
Johanson-Blizzard Syndrome
Hypoplastic nipples, Intrauterine growth retardation, Small for gestational age, Anteriorly place... OMIM:243800
Sim1-Related Prader-Willi-Like Syndrome
Lethargy, Central hypothyroidism, Type II diabetes mellitus, Xerostomia, Premature adrenarche, Hy... ORPHA:398079
Geroderma Osteodysplastica
Biconcave vertebral bodies, Growth delay, Beaking of vertebral bodies, Osteoporosis, Abnormal for... ORPHA:2078
Prader-Willi Syndrome
Short stature, Premature adrenarche, Gastroparesis, Decreased inhibin B level, Diabetes mellitus,... ORPHA:739
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Biliary tract abnormality, Cholestasis, Fat malabsorption ORPHA:79168
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, High palate, Intrauterine growth retard... ORPHA:769
Pituitary Adenoma 4, Acth-Secreting
Biconcave vertebral bodies, Glucose intolerance, Osteoporosis, Impaired glucose tolerance, Kyphos... OMIM:219090
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Beaking of vertebral bo... OMIM:231070
Temple Syndrome
Type II diabetes mellitus, Small for gestational age, Short stature, Bifid uvula, Recurrent hypog... ORPHA:254516
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Growth delay, I... ORPHA:189439
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... OMIM:615925
Alagille Syndrome 1
Hepatocellular carcinoma, Failure to thrive, Papillary thyroid carcinoma, Cirrhosis, Hypercholest... OMIM:118450
Dysspondyloenchondromatosis
Short stature, Osteoarthritis, Kyphoscoliosis, Generalized joint laxity, Platyspondyly, Abnormali... ORPHA:85198
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Short stature, Premature adrenarche, Gastroparesis, Decreased inhibin B level, Anterior pituitary... ORPHA:98754
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Platyspondyly, Severe short stature, Osteopenia, Femoral bowing, Recurrent fracture... OMIM:126550
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Short stature, Osteoporosis, Platyspondyly, Thoracic kyp... ORPHA:85194
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Short stature, Premature adrenarche, Gastroparesis, Decreased inhibin B level, Anterior pituitary... ORPHA:98793
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Cleft palate, Abnormality of the vertebral endplates, Short metatarsal, A... ORPHA:1856
Short Syndrome
Intrauterine growth retardation, Insulin-resistant diabetes mellitus, Birth length less than 3rd ... OMIM:269880
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Neonatal death, Dispropor... OMIM:601376
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis, Severe short stature OMIM:204730
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Tapered finger, Platyspondyly, Abnormality of the metaphysis, Ost... ORPHA:157965
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Nausea, Hyperglycemia, Hypercholesterolemia, Hypothyroidism, Hypopituitarism ORPHA:90065
Prader-Willi Syndrome
Adrenal insufficiency, Short stature, Decreased response to growth hormone stimulation test, Acro... OMIM:176270
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft palate, Hypogonadotropic hypogonadism, Osteoporosis, Clinodactyly, Decreased testicular size OMIM:614838
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Short stature, Premature adrenarche, Gastroparesis, Decreased inhibin B level, Anterior pituitary... ORPHA:177904
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Cleft palate, High palate, Short stature, Abnormal vertebral morphology, Beaking of vertebral bod... ORPHA:93359
Familial Expansile Osteolysis
Bowing of the long bones, Thin bony cortex, Osteolysis, Pathologic fracture OMIM:174810
Cantu Syndrome
Metaphyseal widening, Osteoporosis, Broad first metatarsal, Platyspondyly, Cuboid-shaped vertebra... OMIM:239850
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Short stature, Osteoporosis, Gout, Pancreat... OMIM:232200
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Short stature, Premature adrenarche, Gastroparesis, Decreased inhibin B level, Anterior pituitary... ORPHA:177901
Magel2-Related Prader-Willi-Like Syndrome
Short stature, Lethargy, Type II diabetes mellitus, Absence of pubertal development, Osteoporosis... ORPHA:398069
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Short stature, Abnormal form of the vertebral bodies, Abnormalit... ORPHA:2370
Dominant Beta-Thalassemia
Hypoparathyroidism, Adrenal insufficiency, Hepatic fibrosis, Hepatocellular carcinoma, Growth del... ORPHA:231226
Perlman Syndrome
Hepatomegaly, High, narrow palate, Abnormal pancreas morphology, Cryptorchidism, Hyperinsulinemia ORPHA:2849
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Proximal femoral metaphyseal irregularity, Irregularity of vertebral bodies, Flat distal femoral ... OMIM:609324
Niemann-Pick Disease, Type A
Athetosis, Hepatomegaly, Short stature, Vomiting, Osteoporosis, Splenomegaly, Elevated circulatin... OMIM:257200
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Malabsorption, Splenomegaly, Reduced bone mineral density, Cholestas... ORPHA:172
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Abnormality of the endocrine system, Hyperostosis frontalis interna, Diabetes melli... ORPHA:77296
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 5th metacarpal, Rhizomelia, Platyspondyly, Thoracic kyphosis, Femoral bow... OMIM:619638
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Limited elbow extension, Atlantoaxial dislocation, Short ph... OMIM:177170
Atelosteogenesis, Type Ii
Cleft palate, Increased intervertebral space, Coronal cleft vertebrae, Horizontal sacrum, Talipes... OMIM:256050
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Short stature, Celiac disease, Thyroiditis, Postnat... OMIM:618985
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Functioning Gonadotropic Adenoma
Abnormal prolactin level, Increased serum testosterone level, Macroorchidism, postpubertal, Adren... ORPHA:91348
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Cleft palate, Metaphyseal dappling, Metaphyseal irregularity, Platyspondyly, S... OMIM:184250
Osteogenesis Imperfecta, Type Xxi
Bowing of the legs, Osteoporosis, Disproportionate short-limb short stature, Platyspondyly, Joint... OMIM:619131
Amish Lethal Microcephaly
Hepatomegaly, Cleft soft palate, Osteoporosis, Decreased skull ossification, Limitation of joint ... ORPHA:99742
Mycetoma
Bone cyst, Abnormality of forearm bone, Osteoporosis, Abnormal form of the vertebral bodies, Abno... ORPHA:2583
Autosomal Recessive Primary Microcephaly
Growth delay, Abnormal cortical bone morphology, Short stature ORPHA:2512
Menkes Disease
Intrauterine growth retardation, Short stature, Metaphyseal widening, Joint laxity, Osteoporosis,... OMIM:309400
Caffey Disease
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Cortical... ORPHA:1310
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Thin bony cortex, Growth delay, Fibular bowing, Rickets, Bowing of the legs, Metap... OMIM:600081
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Gait disturbance, Pseudobulbar paralysis, Kyphoscoliosis, Spastic ataxia, Back pain, Localized os... ORPHA:199354
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Mucolipidosis Type Iii
Cleft palate, Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density,... ORPHA:577
Cranioectodermal Dysplasia
Rhizomelia, Craniosynostosis, Osteoporosis, Abnormality of the metaphysis, Finger syndactyly, Bra... ORPHA:1515
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Upper limb undergrowth, Genu varum, Short stature, Metaphyseal irregularity, R... ORPHA:93315
Indolent Systemic Mastocytosis
Hepatomegaly, Osteoporosis, Splenomegaly ORPHA:98848
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Short metatarsal, Platyspo... OMIM:271650
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
High, narrow palate, Cleft palate, Thin bony cortex, Short stature, Talipes equinovarus, Long fin... OMIM:309583
Cranio-Osteoarthropathy
Osteoarthritis, Abnormal cortical bone morphology, Arthritis, Deviation of finger, Clubbing of to... ORPHA:1525
Prader-Willi-Like Syndrome
Short stature, Premature adrenarche, Decreased response to growth hormone stimulation test, Gastr... ORPHA:398073
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Central hypothyroidism, Intrauterine growth retardation, Growth delay, Short stature, Tapered fin... OMIM:300998
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Mild postnatal growth retardation, Posterior wedging o... ORPHA:168549
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Dystonia, Intrauterine growth retardation, Hepatic fibrosis, Osteoporosis, Hepatic ... OMIM:619487
Lichtenstein Syndrome
C1-C2 subluxation, Ulnar deviation of finger, Increased susceptibility to fractures, Osteoporosis... OMIM:246550
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obesity, Childhood-onset trunc... ORPHA:71529
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Glycogen Storage Disease Ib
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Short stature, Osteoporosis, Gout, Pancreat... OMIM:232220
Autosomal Dominant Brachyolmia
Short stature, Kyphoscoliosis, Abnormality of the metaphysis, Platyspondyly, Increased vertebral ... ORPHA:93304
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis, Biconcave flattened vertebrae OMIM:166230
Beta-Thalassemia Major
Hepatomegaly, Hypoparathyroidism, Adrenal insufficiency, Hepatic fibrosis, Hepatocellular carcino... ORPHA:231214
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Generalized osteosc... ORPHA:210110
Melnick-Needles Syndrome
Short stature, Bowing of the long bones, Abnormal cortical bone morphology, Abnormality of the me... ORPHA:2484
Idiopathic Juvenile Osteoporosis
Gait disturbance, Osteoporosis, Kyphosis, Vertebral compression fracture, Recurrent fractures ORPHA:85193
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Vomiting, Hyperglycemia, Weight loss, Diarrhea ORPHA:134
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Kyphosis, Severe short stature, Reduced bone mineral density, Hyperhi... ORPHA:2617
Schimke Immunoosseous Dysplasia
Lateral displacement of the femoral head, Intrauterine growth retardation, Platyspondyly, Osteope... OMIM:242900
Mccune-Albright Syndrome
Increased serum testosterone level, Goiter, Fibrous dysplasia of the bones, Increased circulating... ORPHA:562
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Osteoporosis, Decreased circulati... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Primary hypercortisolism, Increased circulating cortisol level, Osteoporosis, Decreased circulati... OMIM:610489
Spondyloepiphyseal Dysplasia, Nishimura Type
Cleft palate, High palate, Coxa valga, Wide proximal femoral metaphysis, Abnormal femoral neck/he... ORPHA:163649
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Short lower limbs, Disproportionate short-limb short stature, M... OMIM:259440
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hip contracture, Short stature, Distal tapering of metatarsals, Gait disturban... OMIM:259600
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Failure to thrive, Prolonged neonatal jaundice, Intrahepatic ... OMIM:214950
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Triphalangeal thumb, Growth delay, Streak ovary, Osteoporosis, Absence of secondary sex character... ORPHA:2232
Macs Syndrome
High palate, Short stature, Osteoporosis, Joint hypermobility, Hypergonadotropic hypogonadism, Cr... OMIM:613075
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Gastrointestinal hemorrhage, Steatorrhea, Biliary cirrhosis, Jaundice OMIM:613471
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Enlarged metacarpal epiphyses, Broad ... OMIM:609616
Lysinuric Protein Intolerance
Hepatomegaly, Vomiting, Failure to thrive, Pancreatitis, Hepatic amyloidosis, Cirrhosis, Hypercho... ORPHA:470
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Small for gestational age, Failure to thrive, Hypercholesterolemia, H... ORPHA:79237
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Short stature, Polycystic ovaries, Short toe, Kyphosis, Hyperlordosis,... ORPHA:3085
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Growth delay, Osteoporosis, Intestinal lymphangiectasia, Syndactyly, Camptodactyly OMIM:616006
Ollier Disease
Platyspondyly, Precocious puberty, Abnormality of the metaphysis, Joint stiffness, Micromelia, Os... ORPHA:296
Leprechaunism
Severe intrauterine growth retardation, Central hypothyroidism, Hepatomegaly, Fasting hypoglycemi... ORPHA:508
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Talipes equinovarus, Short stature, Small hand, Platyspondyly, ... ORPHA:85172
Dermatosparaxis Ehlers-Danlos Syndrome
Coxa valga, Rickets, Avascular necrosis of the capital femoral epiphysis, Osteoporosis, Esophagit... ORPHA:1901
Seizures-Scoliosis-Macrocephaly Syndrome
Nausea, Overlapping toe, Reduced bone mineral density, Scoliosis, Broad-based gait, Cryptorchidis... ORPHA:466926
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Severe short stature, Coxa vara, Short palm, Limitation of joint mobility, Micromelia ORPHA:168555
Osteogenesis Imperfecta, Type Xvii
Short stature, Osteoporosis, Platyspondyly, Vertebral compression fracture, Thin metacarpal corti... OMIM:616507
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Abnormal metacarpal morphology, Platyspondyly OMIM:269630
Duodenal Atresia
Abnormality of the pancreas, Duodenal atresia, Annular pancreas ORPHA:1203
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Growth delay, Insulin resistance, Osteop... ORPHA:91
Brachyolmia, Maroteaux Type
Abnormal form of the vertebral bodies, Scoliosis, Platyspondyly, Short stature ORPHA:93302
Stuve-Wiedemann Syndrome 1
Short stature, Metaphyseal rarefaction, Thickened cortex of long bones, Pathologic fracture, Femo... OMIM:601559
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Tibial bowing, Thin bony cortex, Growth delay, Fibular bowing, Rickets, Bowing of the legs, Metap... OMIM:241530
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Short stature, Irregular vertebral endplates, Bowing of the legs, Lower limb undergrowth, Kyphosc... OMIM:612847
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Decreased body weight, Decreased testicular size, Steatorrhea, Short stature OMIM:601347
Cystinosis
Gait disturbance, Short stature, Rickets, Vomiting, Malabsorption, Nephrogenic diabetes insipidus... ORPHA:213
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Recurrent fractures, Osteoporosis, Short stature, Joint laxity OMIM:248010
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Pancreatic hypoplasia, Intrauterine growth retardation, Hyperglycemia, Failure... OMIM:600001
Lowry-Maclean Syndrome
Pyloric stenosis, High, narrow palate, Abnormality of the abdominal organs, Cleft palate, Intraut... ORPHA:2409
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu varum, Flat capital femoral epiphysis, Proportionate short stature, Platyspondyly, Genu valgum OMIM:608361
Aggressive Systemic Mastocytosis
Osteoporosis, Malabsorption, Pathologic fracture, Decreased liver function, Hypersplenism, Hepato... ORPHA:98850
Atypical Werner Syndrome
Ovarian neoplasm, Short stature, Insulin-resistant diabetes mellitus, Reduced bone mineral densit... ORPHA:79474
Normosmic Congenital Hypogonadotropic Hypogonadism
Cleft palate, Hypogonadotropic hypogonadism, Osteoporosis, Generalized joint laxity, Hypoplasia o... ORPHA:432
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Thin bony cortex, Bowing of the long bones, Generalized osteoporosis,... OMIM:617952
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Metaphyseal dysplasia, Cleft soft palate, Kyphoscoliosis, Pl... ORPHA:93316
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Abnormally ossified vertebrae, Short phalanx of finger, Flared femoral metaphysis, ... ORPHA:1427
Bile Acid Conjugation Defect 1
Hepatomegaly, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated ci... OMIM:619232
Dent Disease 1
Tibial bowing, Thin bony cortex, Fibular bowing, Short stature, Rickets, Bowing of the legs, Meta... OMIM:300009
Werner Syndrome
Hypogonadism, Osteoporosis, Diabetes mellitus, Short stature OMIM:277700
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Bowing of the long bones, Proximal placement of thumb, Platyspondyly, Abnormality of ... ORPHA:93267
Galactosemia
Lethargy, Hepatomegaly, Gait disturbance, Dystonia, Gait imbalance, Decreased serum insulin-like ... ORPHA:352
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Typ... ORPHA:171
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Neonatal short-trunk short stature, Talipes equinovarus, Delayed calcaneal ossifica... OMIM:183900
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, High palate, Thin bony cortex, Osteopenia, Wide anterior fontanel,... ORPHA:85184
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Acute hepatic failure, Rickets of the lower... ORPHA:882
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Short stature ORPHA:329249
Perrault Syndrome 4
Cleft palate, Osteoporosis, Hypoplasia of the ovary, Decreased serum estradiol, Increased circula... OMIM:615300
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Osteoporosis, Osteopenia, Gait ataxia, Difficulty walking ORPHA:529665
Hajdu-Cheney Syndrome
Biconcave vertebral bodies, High palate, Cervical instability, Short stature, Foot acroosteolysis... OMIM:102500
Autosomal Recessive Hypophosphatemic Rickets
Spinal canal stenosis, Genu varum, Tibial bowing, Growth delay, Short stature, Abnormal sacroilia... ORPHA:289176
Immunodeficiency 54
Hepatomegaly, Adrenal insufficiency, Intrauterine growth retardation, Short stature, Failure to t... OMIM:609981
Familial Isolated Hyperparathyroidism
Elevated circulating parathyroid hormone level, Osteopenia, Primary hyperparathyroidism, Parathyr... ORPHA:99879
Hypophosphatasia, Infantile
Decreased calvarial ossification, Short lower limbs, Vomiting, Bowing of the legs, Increased susc... OMIM:241500
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Femoral bowing, High palate, Tibial bowing, Short stature, Platyspondyly, Flexion contracture, Ce... OMIM:245160
Pseudodiastrophic Dysplasia
Tongue-like lumbar vertebral deformities, Talipes equinovarus, Phalangeal dislocation, Rhizomelia... OMIM:264180
Gm1 Gangliosidosis
Short stature, Abnormal form of the vertebral bodies, Patent ductus arteriosus, Splenomegaly, Hep... ORPHA:354
Premature Aging Syndrome, Okamoto Type
Osteoporosis, Diabetes mellitus OMIM:601811
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Platyspondyly, Coxa vara, Flared metaphysis, Waddling gait, Irregular, rachitic-l... OMIM:184252
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Femoral bowing, Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregu... OMIM:608940
Pituitary Stalk Interruption Syndrome
Hypoglycemia, Diabetes insipidus, Short stature, Failure to thrive, Abnormality of the hypothalam... ORPHA:95496
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Juvenile Paget Disease
Short stature, Bowing of the long bones, Osteoporosis, Coarse metaphyseal trabecularization, Cran... ORPHA:2801
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hypoglycemia, Short stature, Rickets, Glycosuria, Diabetes mellitus OMIM:616026
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Osteoporosis, Osteopenia OMIM:615267
Kniest Dysplasia
Gait disturbance, Cleft palate, Hip contracture, Coronal cleft vertebrae, Delayed epiphyseal ossi... OMIM:156550
Oculodentodigital Dysplasia
Short hallux, Gait disturbance, Toe syndactyly, Cleft palate, Hypoglycemia, Hyperostosis, Abnorma... ORPHA:2710
Prolactinoma
Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, Vomiting, Hypogonadotropic... ORPHA:2965
Smith-Mccort Dysplasia 1
Genu varum, Beaking of vertebral bodies, Metaphyseal irregularity, Short phalanx of finger, Platy... OMIM:607326
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metacarpal heads, Hip osteoarthritis, Short stature, Platyspondyly, Flattened metatarsa... OMIM:271600
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Thin bony cortex, Fibular bowing, Short stature, Rickets, Bowing of the legs, Meta... OMIM:300554
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Osteopenia OMIM:615363
Bruck Syndrome 2
Short stature, Talipes equinovarus, Increased susceptibility to fractures, Platyspondyly, Knee fl... OMIM:609220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hypoglycemia, Short stature, Increased hepatic glycogen cont... ORPHA:79259
Hyperzincemia With Functional Zinc Depletion
Diarrhea, Hepatomegaly, Osteoporosis OMIM:601979
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal end... OMIM:144750
Metaphyseal Acroscyphodysplasia
Genu varum, Short humerus, Short toe, Short phalanx of finger, Cone-shaped epiphyses of the phala... OMIM:250215
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Esophageal varix, Short stature, Rickets, Reduced bone mineral density, Portal hype... OMIM:613658
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Decreased calvarial ossification, Tibial bowing, Neonatal short-limb ... OMIM:259420
Lenz-Majewski Hyperostotic Dwarfism
Cleft palate, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Increased bon... ORPHA:2658
46,Xx Gonadal Dysgenesis
Streak ovary, Short stature, Arachnodactyly, Osteopenia, Reduced bone mineral density, Increased ... ORPHA:243
Autosomal Dominant Progressive External Ophthalmoplegia
Gait disturbance, Dysphagia, Goiter, Glucose intolerance, Osteoporosis, Bradykinesia, Gastropares... ORPHA:254892
Infantile Liver Failure Syndrome 3
Hepatomegaly, Short stature, Talipes equinovarus, Beaking of vertebral bodies, Platyspondyly, Spl... OMIM:618641
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, Cleft palate, High palate, Intrauterine growth retardation, Small for gestation... ORPHA:96184
Dyskeratosis Congenita
Hepatomegaly, Intrauterine growth retardation, Short stature, Osteoporosis, Neoplasm of the pancr... ORPHA:1775
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Small for gestational age, Atretic gallbladder, Bile duct prolifera... ORPHA:30391
8Q24.3 Microdeletion Syndrome
Short stature, Patent ductus arteriosus, Gastrointestinal hemorrhage, Thoracic scoliosis, Short f... ORPHA:508488
Nail-Patella Syndrome
Talipes equinovarus, Reduced bone mineral density, Contracture of the distal interphalangeal join... ORPHA:2614
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Dystonia, Intrauterine growth retardation, Short stature, Increased susceptibility to fractures, ... OMIM:612199
Kniest Dysplasia
Cleft palate, Abnormal bone structure, Laryngotracheomalacia, Coronal cleft vertebrae, Vertebral ... ORPHA:485
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Increased intervertebral space, Beaking of vertebral bodies, Metaphyseal wi... OMIM:618961
Gm1-Gangliosidosis, Type Ii
Coxa valga, Gait disturbance, Ataxia, Platyspondyly OMIM:230600
Autosomal Recessive Stickler Syndrome
Cleft palate, Short stature, Irregular vertebral endplates, Platyspondyly, Genu valgum, Joint hyp... ORPHA:250984
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating aldosterone level, Abnormality of the Leydig cells, Elevated circulating fo... ORPHA:289548
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Metatarsus adductus, Short stature, Talipes equinovarus, Macroglossia, Anterior bea... OMIM:253220
Occipital Horn Syndrome
Absent tibia, Rickets, Hepatitis, Gastroparesis, Synostosis of joints, Brachydactyly, Osteomalaci... ORPHA:198
Rothmund-Thomson Syndrome, Type 2
High palate, Short stature, Annular pancreas, Talipes equinovarus, Kyphoscoliosis, Osteoporosis, ... OMIM:268400
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Tapered finger, Metaphyseal irregularity, Proportionate short stat... OMIM:601668
Gm1-Gangliosidosis, Type Iii
Dystonia, Short stature, Platyspondyly, Kyphosis, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Osteoporosis, Elevated circulating follicle stimu... OMIM:618187
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Metaphyseal dysplasia, Cervical instability, Kyphoscoliosis, Hepatic cysts, Platyspondyly, Disloc... OMIM:617425
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Osteoporosis, Patent ductus arteriosus, Osteopenia, Ataxia, Hypoplasia of the ulna, ... OMIM:615398
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Congenital... OMIM:610199
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating aldosterone level, Abnormality of the Leydig cells, Elevated circulating fo... ORPHA:168558
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Short stature, Metaphyseal cupping of metacarpals, Rhizomelia, P... OMIM:300863
Matthew-Wood Syndrome