Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Abnormality of body we... |
ORPHA:314811 |
Acid-Labile Subunit Deficiency |
|
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Mild postnatal growth retard... |
OMIM:615961 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ... |
ORPHA:314802 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P... |
OMIM:262400 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati... |
ORPHA:171706 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... |
OMIM:262700 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Postnata... |
OMIM:232700 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71526 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropi... |
ORPHA:453533 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Severe short stature, Hypoglycemia |
OMIM:223500 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... |
ORPHA:324575 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Aredyld Syndrome |
|
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Short stature, Cachexia, Splenomega... |
ORPHA:1133 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postna... |
OMIM:616113 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... |
OMIM:615925 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... |
ORPHA:369 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Short stature, Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant dia... |
OMIM:262190 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... |
ORPHA:276580 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis |
OMIM:261650 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Short stature, Hypoglycemia |
ORPHA:366 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,... |
ORPHA:300373 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Short stature, Hypoglycemia, Postnatal growth retardation, Decreased b... |
ORPHA:231140 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia, Hepatomegaly |
ORPHA:2576 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... |
ORPHA:79084 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... |
ORPHA:95619 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Abnormal hair morpholo... |
ORPHA:1979 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... |
OMIM:613038 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Short stature, Hypogonadot... |
OMIM:612079 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli... |
ORPHA:276575 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... |
ORPHA:71529 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ... |
OMIM:618157 |
Moynahan Syndrome |
|
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair |
ORPHA:2574 |
Mehmo Syndrome |
|
Small for gestational age, Hypoglycemia, Decreased response to growth hormone stimulation test, O... |
OMIM:300148 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Hypoglycemia |
OMIM:610090 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc... |
OMIM:613986 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Short stature, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619048 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... |
ORPHA:276556 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Temple Syndrome |
|
Short stature, Small for gestational age, Decreased response to growth hormone stimulation test, ... |
ORPHA:254516 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Intrauterine growth retardation, Hypoglycemia |
ORPHA:231147 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:446 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Growth delay, Long eyelashes, Hypogonadism, Failure to thrive |
ORPHA:163693 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Median cleft lip, Polydactyly |
OMIM:300484 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:618160 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Severe short stature, Cachexia, Growt... |
ORPHA:3242 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Lipoatrophy, Short sta... |
ORPHA:157954 |
Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Pituitary dwarfism, Anterior ... |
OMIM:173100 |
Flynn-Aird Syndrome |
|
Alopecia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diab... |
ORPHA:2047 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Short stature, Low anterior hairline, Delayed thelarche... |
OMIM:616033 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cachexia, Distal arthrogryposis, Decre... |
ORPHA:42 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow... |
OMIM:613370 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Splenome... |
OMIM:613027 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Abnormal circulating reni... |
OMIM:202200 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Short stature, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Cry... |
ORPHA:95496 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Fine hair, ... |
ORPHA:231137 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Hypoglycemia, Decreased liver function |
ORPHA:67048 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Intrauterine growth re... |
OMIM:618958 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Postnatal growth retardation, Hypoglycemia |
OMIM:616111 |
Donohue Syndrome |
|
Postnatal growth retardation, Adipose tissue loss, Precocious puberty, Hyperinsulinemia, Cholesta... |
OMIM:246200 |
Galactokinase Deficiency |
|
Hepatomegaly, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsul... |
ORPHA:79237 |
Obesity And Hypopigmentation |
|
Red hair, Hepatic steatosis, Hyperinsulinemia, Obesity |
OMIM:620195 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Insulin res... |
ORPHA:73272 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Growth delay, Increased hepatic glycogen... |
OMIM:261750 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia |
ORPHA:26792 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, ... |
ORPHA:398079 |
Diencephalic Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight |
ORPHA:1672 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Intrauterine growth retardation, Hyperglycemia, Transient neonatal diab... |
OMIM:601410 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Hypoglycemia, Sparse axillary hair, Reduced circulating pro... |
ORPHA:91355 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Increased... |
OMIM:614736 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... |
ORPHA:2126 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... |
ORPHA:79644 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... |
OMIM:231100 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... |
ORPHA:94086 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Failure to thrive in infancy |
ORPHA:6 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Diabetes mellitus, Short stature, Decreased response to growth hormone ... |
ORPHA:739 |
Non-Acquired Panhypopituitarism |
|
Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Hypoglycemia, Decreased response ... |
ORPHA:90695 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Adrenocorticotropic hormone excess, Increased serum serotonin, Elevated circulating ... |
ORPHA:100083 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:617950 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Proportionate short stature, Neoplasm of... |
ORPHA:54595 |
Silver-Russell Syndrome |
|
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Precocious p... |
ORPHA:813 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatic fibrosis |
OMIM:232400 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... |
OMIM:201400 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Premature pubarche, Short stature, Precocious puberty, Cryptorchidism, ... |
ORPHA:398069 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Decreased serum insulin-like growth factor 1, Ectopi... |
OMIM:620303 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia, Attention deficit hyperactivity disorder |
OMIM:615401 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Hypoglycemia, Hypogonadotropic hypogonadism, Long eyelash... |
ORPHA:48431 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia |
OMIM:258865 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Diabetes mellitus, Short stature, Small for gestational age, Decreased ... |
ORPHA:98754 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Alopecia, Alo... |
ORPHA:293978 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity, Short stature |
ORPHA:369873 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Diabetes mellitus, Short stature, Small for gestational age, Decreased ... |
ORPHA:98793 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Hypoglycemia, Decreased liver function, Elevated hepatic transaminase |
OMIM:615160 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Dorsocervical fat pad, Hypoglycemia, Proportionate short stature, Small for ge... |
ORPHA:391408 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function |
OMIM:246900 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:231720 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:614741 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Diabetes mellitus, Short stature, Small for gestational age, Decreased ... |
ORPHA:177904 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Combined Malonic And Methylmalonic Acidemia |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia |
ORPHA:289504 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Diabetes mellitus, Short stature, Small for gestational age, Decreased ... |
ORPHA:177901 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... |
ORPHA:2298 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Short stature, Ketotic hypoglycemia, Glycosuria, Postprandial hype... |
ORPHA:2089 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... |
ORPHA:263455 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycys... |
ORPHA:3085 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Short humerus,... |
OMIM:607143 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... |
OMIM:608600 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:221750 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty |
OMIM:612702 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Growth delay |
OMIM:306000 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia |
ORPHA:35 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:245400 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619386 |
Septo-Optic Dysplasia Spectrum |
|
Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, Abnorma... |
ORPHA:3157 |
Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Short stature, Abnormal hair morphology, Weight loss, Abnormal testi... |
ORPHA:317 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Hypergonadotropic hypogo... |
ORPHA:2232 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Mcdonough Syndrome |
|
Cryptorchidism, Synophrys, Short stature, Cachexia |
ORPHA:2471 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic failure, Failure to thrive |
ORPHA:2394 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Laron Syndrome |
|
Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed... |
ORPHA:633 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Growth delay, Adrenal insufficiency,... |
ORPHA:75233 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Cachexia |
ORPHA:157973 |
Alexander Disease Type I |
|
Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia |
ORPHA:363717 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia |
ORPHA:5 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue los... |
ORPHA:528 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Insulin... |
ORPHA:363400 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism |
OMIM:307500 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ... |
OMIM:606407 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Neonatal death, Int... |
OMIM:618835 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... |
ORPHA:2088 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Neonatal death, Int... |
OMIM:618839 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Hypoglycemia, Larg... |
OMIM:616026 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab... |
ORPHA:791 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... |
OMIM:261680 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Intrauterine growth retardation, Failure to thrive, Hypoglycemia |
OMIM:614702 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Cog2-Cdg |
|
Small pituitary gland, Decreased liver function |
ORPHA:435934 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Elevated hepatic transaminase, Small pituitary gland |
OMIM:617395 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Inguinal hernia, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Cryptorch... |
ORPHA:397590 |
Silver-Russell Syndrome 1 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Testicular semi... |
OMIM:180860 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... |
ORPHA:2457 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Small pituitary gland |
OMIM:614880 |
Fg Syndrome Type 1 |
|
Inguinal hernia, Progressive flexion contractures, Short stature, Cryptorchidism, Frontal upsweep... |
ORPHA:93932 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:151660 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... |
OMIM:617093 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Pituitary dwarfism, Ectopic posterior pituitary, Hypoglycemia, Decreased response to growth hormo... |
ORPHA:95494 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Thick eyebrow, Short stature, Decreased response to growth hormone stimulation test, Fasting hypo... |
ORPHA:436174 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
ORPHA:79239 |
Deeah Syndrome |
|
Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test, Anterior pitu... |
OMIM:619004 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Short stature, Hypoglycemia |
ORPHA:364 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Ankle flexion contracture, Hypoglycemia |
OMIM:618120 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia |
OMIM:618838 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Proportionate short stature, Fasting hyperi... |
ORPHA:71212 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Cachexia, Splenomegaly, Dystrophic toenail, Patchy alopecia, Dystrophic f... |
ORPHA:2930 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Riboflavin Transporter Deficiency |
|
Hypogonadism, Diabetes insipidus, Cachexia |
ORPHA:97229 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
OMIM:619476 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Small for gestational age, Cryptorchidism, Fine hair, Growth delay, Recurrent hypo... |
OMIM:616817 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Increased... |
ORPHA:264580 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
ORPHA:67045 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hypoglycemia |
ORPHA:664 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cac... |
ORPHA:298 |
Short Stature, Dauber-Argente Type |
|
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature |
OMIM:619489 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Failure to thrive in infancy, Cachexia, Intrauterine growth retardation |
OMIM:616801 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:212140 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:266150 |
Christianson Syndrome |
|
Arthrogryposis multiplex congenita, Cachexia, Thick eyebrow |
ORPHA:85278 |
Bangstad Syndrome |
|
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... |
ORPHA:1227 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Abnormal liver ... |
ORPHA:90003 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Severe... |
OMIM:609069 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Inability to walk, Abnormal long bone m... |
ORPHA:356961 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:617049 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Focal T2 hyperintense thalamic lesion, Failure to thrive, Neonatal hypoglycemia |
OMIM:619046 |
Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting hypoglycemia,... |
ORPHA:769 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Type I diabetes mellitus, Intrauterine growth retar... |
OMIM:606176 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Decreased circulating ACT... |
ORPHA:199299 |
Septooptic Dysplasia |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:182230 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic... |
OMIM:251880 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... |
ORPHA:199296 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Growth delay, Hyperglycemia, ... |
OMIM:615453 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis |
OMIM:616260 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Depressed nasal bridge, Micrognathia, Obesity, Attention deficit hyperactiv... |
ORPHA:444002 |
Pyridoxal Phosphate-Responsive Seizures |
|
Failure to thrive, Hypoglycemia |
ORPHA:79096 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Congenital adrenal hyperplasia, Cryp... |
ORPHA:90791 |
Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia |
OMIM:618905 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, Hypoglycemia |
OMIM:614739 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Whipple Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Insulin resistance, Hypothyroidism |
ORPHA:3452 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair, Intrauterine growth retardation, Hypoglycemia, Small for gestational age |
OMIM:618253 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay |
ORPHA:79238 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal pancreas morphology, Hype... |
ORPHA:2849 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia |
OMIM:300438 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... |
OMIM:608612 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, Neonatal death, Arthrogryposis multiplex c... |
OMIM:618186 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... |
ORPHA:90790 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Short stature, Cachexia, Elbow flexion contracture, Knee flexion contracture, Se... |
ORPHA:371364 |
Familial Renal Glucosuria |
|
Insulin resistance, Moderate postnatal growth retardation, Abnormal circulating insulin concentra... |
ORPHA:69076 |
Tetrasomy 12P |
|
Sparse hair, Cachexia, Short stature, Sparse eyebrow |
ORPHA:884 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... |
ORPHA:83469 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... |
ORPHA:79319 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Ketotic hypoglycemia, Hepatocellular ... |
ORPHA:79240 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... |
ORPHA:444463 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia |
ORPHA:95428 |
Propionic Acidemia |
|
Hepatomegaly, Short stature, Hypoglycemia, Failure to thrive, Pancreatitis |
OMIM:606054 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Hypoglycemia, Cachexia, Thyroid carcinoma, Lipoma,... |
ORPHA:109 |
Smith-Kingsmore Syndrome |
|
Curly hair, Rhizomelia, Hypoglycemia, Large for gestational age, Cryptorchidism, Umbilical hernia |
OMIM:616638 |
Webb-Dattani Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
OMIM:615926 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Generalized hirsutism, Cachexia |
ORPHA:1933 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Growth delay, Sparse or absent eyelash... |
ORPHA:217346 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Short ... |
OMIM:614921 |
Pituitary Apoplexy |
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Hypoglycemia, Decreased response to growth hormone stimulation test, Elevated circulating growth ... |
ORPHA:95613 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Femoral b... |
OMIM:608940 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hypoglycemia |
ORPHA:156 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Fulminant hepatic failure, Hepatic necrosis, Hypoglycemic seizures, Growth delay, Hepatic steatos... |
OMIM:231530 |
Tsh-Secreting Pituitary Adenoma |
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Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... |
OMIM:256810 |
Malonyl-Coa Decarboxylase Deficiency |
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Short stature, Hypoglycemia |
OMIM:248360 |
Immunodeficiency 52 |
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Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Immunodeficiency 21 |
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Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Short stature, Hypoglycemia, Intrauterine growth retardation, Joint contracture, Failure to thriv... |
OMIM:618005 |
Infantile Liver Failure Syndrome 2 |
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Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure |
OMIM:616483 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis |
OMIM:201450 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age |
OMIM:618858 |
Immunodeficiency, Common Variable, 10 |
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Hypoglycemia, Alopecia totalis, Decreased response to growth hormone stimulation test, Central ad... |
OMIM:615577 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
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Acute hepatic steatosis, Failure to thrive, Hypoglycemia |
OMIM:210200 |
Cernunnos-Xlf Deficiency |
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Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Alopecia, Spar... |
OMIM:248370 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Estrogen Resistance Syndrome |
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Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
Femoral-Facial Syndrome |
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Thin upper lip vermilion, Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnor... |
ORPHA:1988 |
Laurin-Sandrow Syndrome |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Hereditary Geniospasm |
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Abnormal social behavior |
ORPHA:53372 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypogl... |
OMIM:600649 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated... |
ORPHA:97282 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Somatostatinoma |
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Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97283 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Splenomegaly, Hyperinsulinemia, Short stature |
ORPHA:66518 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Cleft upper lip, Metaphyseal wi... |
OMIM:613091 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
Ring Chromosome 10 Syndrome |
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Intrauterine growth retardation, Cachexia |
ORPHA:1438 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Waddling gait, Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowi... |
OMIM:602111 |
Chromosome 14Q11-Q22 Deletion Syndrome |
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Inguinal hernia, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short st... |
OMIM:613457 |
Atelosteogenesis Type Iii |
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Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Hepatomegaly, Failure to thrive, Hypoglycemia, Pancreatitis |
OMIM:251000 |
Orthostatic Hypotension 2 |
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Hypoglycemia |
OMIM:618182 |
Leprechaunism |
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Reduced subcutaneous adipose tissue, Facial hypertrichosis, Hepatomegaly, Enlarged ovaries, Postn... |
ORPHA:508 |
Bent Bone Dysplasia Syndrome 2 |
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Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... |
OMIM:620076 |
Bachmann-Bupp Syndrome |
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Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Hypoglycemia, Large for gestational age, Cry... |
OMIM:619075 |
Multiple Endocrine Neoplasia Type 4 |
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Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Majeed Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Flexion contracture, Weight loss, Failure to thrive |
ORPHA:77297 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... |
ORPHA:79086 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
X-Linked Intellectual Disability, Cabezas Type |
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Inguinal hernia, Short stature, Camptodactyly of finger, Abnormal hair pattern, Cachexia, Synophr... |
ORPHA:85293 |
Short Syndrome |
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Inguinal hernia, Severe short stature, Lipodystrophy, Abnormal dental enamel morphology, Diabetes... |
ORPHA:3163 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Lethargy, Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
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Inguinal hernia, Hypoglycemia, Elbow contracture, Umbilical hernia, Intrauterine growth retardation |
OMIM:620275 |
Acromelic Frontonasal Dysostosis |
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Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft upper lip, Pre... |
OMIM:603671 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Alopecia, Hyperthyroidism, Failure to thrive in infancy, Cachexia,... |
ORPHA:37042 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
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Small for gestational age, Hypoglycemia, Neonatal death, Intrauterine growth retardation, Failure... |
OMIM:619055 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia |
OMIM:300559 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas... |
OMIM:227810 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Short stature, Hypoglycemia, Elevated circulating aspartate aminotransferase concen... |
OMIM:608779 |
Hsd10 Disease |
|
Choreoathetosis, Short attention span, Abnormal social behavior, Ataxia |
ORPHA:391417 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Median cleft lip, Broad hallux, Micrognathia, Short tibia, Central retinal ves... |
ORPHA:2751 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
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Anterior pituitary hypoplasia, Synophrys, Pituitary hypothyroidism, Long eyelashes, Hypertrichosis |
OMIM:619983 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Hypogo... |
OMIM:615849 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Isolated Exencephaly |
|
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes |
ORPHA:563612 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... |
ORPHA:91351 |
Glutaric Acidemia I |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
OMIM:231670 |
Isolated Complex I Deficiency |
|
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Intrauterine growth retardation, Failure to thrive |
ORPHA:2609 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Microvesicular hepati... |
OMIM:619418 |
Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Hypoglycemi... |
ORPHA:85138 |
Mirage Syndrome |
|
Short stature, Hypoglycemia, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Cryptorchidism, ... |
OMIM:617053 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Sparse axillary hair, Adrenal hypoplasia, Pri... |
ORPHA:95409 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:212138 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:616355 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Severe short stature, Cachexia, Absence of subcutaneous fat, Corne... |
OMIM:610965 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... |
OMIM:232200 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Short stature, D... |
OMIM:203800 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Cachexia, Splenomegaly, Hepatosplenomegaly |
ORPHA:824 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Dispr... |
OMIM:263520 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol... |
ORPHA:189427 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... |
OMIM:609015 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Neonatal death, Hepatic periportal necrosis, He... |
OMIM:231680 |
D-Glyceric Aciduria |
|
Growth delay, Failure to thrive, Hypoglycemia |
OMIM:220120 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... |
ORPHA:103918 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... |
OMIM:618329 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholesta... |
OMIM:617156 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland |
OMIM:614195 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic failure, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Failur... |
OMIM:602579 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia |
OMIM:611126 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... |
OMIM:613239 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, Tented upper lip vermilion, Micrognathia, Tibial bowing, Hyp... |
ORPHA:96334 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... |
ORPHA:786 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:617710 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:246450 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosi... |
ORPHA:348 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Neonatal death, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevat... |
OMIM:620300 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis |
OMIM:248600 |
Reni Syndrome |
|
Hypoglycemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypothyroidism |
OMIM:617575 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... |
OMIM:608594 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Acromelic Frontonasal Dysplasia |
|
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia, Midline central nervous system li... |
ORPHA:1827 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Fle... |
OMIM:613327 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:229700 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... |
OMIM:608747 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hyperglycemia, Hypoglycemia, Weight loss |
ORPHA:134 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97280 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Neonatal hypoglycemia |
OMIM:617600 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Postnatal growt... |
ORPHA:96182 |
Shashi-Pena Syndrome |
|
Hypoglycemia, Highly arched eyebrow, Synophrys, Long eyelashes, Intrauterine growth retardation, ... |
OMIM:617190 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat... |
ORPHA:1333 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Clinodactyly of the 5th finger, Lymphopenia, Chorioretinal coloboma |
ORPHA:1116 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty, Neonatal hypoglycemia, Camptodactyly |
OMIM:301032 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia, Thin vermilion border, Irritability, 2-3 toe syndactyly |
ORPHA:391307 |
Timothy Syndrome |
|
Hypothyroidism, Hypoglycemia |
OMIM:601005 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Flexion contracture, Small pituitary gland, Disproportionate short-limb short stature, Hypertrich... |
OMIM:619479 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Cleft upper lip, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly... |
OMIM:206920 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Diabetes insipidus, Weight loss |
ORPHA:30925 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Abnormal liver parenchyma morphology, Pheochromocytoma,... |
ORPHA:1332 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... |
ORPHA:35173 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:86893 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Hepatic stea... |
OMIM:201475 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Small for gestational age, Short stature, Hypoglycemia, Chronic pancre... |
OMIM:307030 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Diffuse hepatic steatosis, Chronic... |
ORPHA:746 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Synophrys, Flexion contracture, Knee flexi... |
OMIM:619503 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Splenomegaly, H... |
OMIM:276700 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Elevated circulating luteinizing hor... |
ORPHA:289548 |
Hydranencephaly |
|
Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ... |
ORPHA:2177 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... |
OMIM:608836 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm... |
ORPHA:97278 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis, Hypoketotic hypo... |
ORPHA:228305 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... |
ORPHA:168558 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Severe short stature, Diabetes melli... |
ORPHA:191 |
X-Linked Creatine Transporter Deficiency |
|
Short stature, Cachexia |
ORPHA:52503 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Alopecia, Short stature, Postnatal growth retardation, Thyroiditis... |
OMIM:212750 |
Kabuki Syndrome 2 |
|
Short stature, Highly arched eyebrow, Postnatal growth retardation, Hirsutism, Long eyelashes, De... |
OMIM:300867 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia |
ORPHA:300605 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Failure to thrive, Hypoglycemia |
OMIM:210210 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Adrenal calcification, Cachexia, H... |
ORPHA:275761 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Pancreatic fibrosis, He... |
OMIM:232220 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Short stature, Hypoglycemia, Prolonged neonatal jaundice, High anterior hairline |
OMIM:233600 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Failure to thrive, Hypoketotic hypoglycemia |
OMIM:610768 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Failure to thrive,... |
ORPHA:99901 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Curly hair, Neonatal hypoglycemia, Large for gestational age |
ORPHA:457485 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Long eyelashes, Broad lateral eyebrow, Neonatal hypoglycemia, Obesity |
OMIM:608624 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature adrenarche, Short stature, Hypogonadotropic hypog... |
ORPHA:90794 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... |
OMIM:269700 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia |
ORPHA:391428 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Thick lower lip vermilion, Flat acetabular r... |
OMIM:600002 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Nail dystrophy, Cachexia |
OMIM:175500 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss |
ORPHA:2198 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Severe short stature, Diabetes mellitus, Impaired glucose tolerance, Elevated... |
OMIM:617253 |
Rett Syndrome |
|
Short stature, Cachexia |
OMIM:312750 |
Poems Syndrome |
|
Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Primary adrenal insufficie... |
ORPHA:2905 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Brittle hair, Hypoglycemia, Cholangitis, Microvesicular hepatic st... |
OMIM:124000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, Intrauterine growth retardation, Hepatic failure, Hypoglycemia |
OMIM:619355 |
Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia |
ORPHA:2058 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Decreased response to gro... |
ORPHA:177907 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia |
OMIM:608688 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion cont... |
OMIM:151050 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Short stature, Hypoglycemia, Decreased response to growth hormone stimulation test, Flexion contr... |
OMIM:616007 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Growth... |
ORPHA:66634 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... |
OMIM:223800 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint contracture, Glycosur... |
ORPHA:99885 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Short stature, Small for gestational age, Anterior pituitary hypopla... |
ORPHA:464306 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Inguinal hernia, Short stature, Hypoglycemia, S... |
OMIM:613658 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Growth delay, Hypothyroidism, Neonatal hypoglyc... |
ORPHA:445038 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Decreased liver fu... |
ORPHA:26791 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol... |
ORPHA:96263 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... |
ORPHA:97261 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Reduced circulating prolactin concentration |
OMIM:223360 |
Trisomy 18 |
|
Omphalocele, Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, C... |
ORPHA:3380 |
Leigh Syndrome |
|
Alopecia, Multiple joint contractures, Hypoglycemia, Abnormal thalamic MRI signal intensity, Grow... |
ORPHA:506 |
Seckel Syndrome |
|
Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Cachexia, Intrauterine growt... |
ORPHA:808 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Overweight, Jaundice, Obe... |
ORPHA:26793 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinoma, Hypothyroidism, Hepatocellul... |
ORPHA:79259 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Precocious puberty, Synophrys, Obesity, Hepatosplenomegaly, Cholecyst... |
OMIM:301066 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Rhizomelia, Weight loss, Severe short-limb dwarfism, Hernia, Failure to thrive |
ORPHA:1842 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Umbilical hernia, Hypoglycemia |
OMIM:614501 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Short stature, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior |
ORPHA:1020 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp... |
ORPHA:171876 |
Schwartz-Jampel Syndrome |
|
Decreased testicular size, Hip contracture, Inguinal hernia, Abnormal eyebrow morphology, Short s... |
ORPHA:800 |
Sotos Syndrome |
|
Sparse eyebrow, Cryptorchidism, Increased body weight, Glucose intolerance, Prolonged neonatal ja... |
OMIM:117550 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fasting hypoglycemia, Hepatic failure, Hypoketotic h... |
ORPHA:159 |
Perlman Syndrome |
|
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Pancrea... |
OMIM:267000 |
Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Fibular hypoplasia,... |
OMIM:164745 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:100024 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Intrauterine growth retardation, Neonatal hypoglycemia, Congenital foot contractures |
ORPHA:565624 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Elevated circulating growth hormone concentration, Increased circulating ACTH level... |
ORPHA:97287 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Pedal edema |
OMIM:152800 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Flexion contracture, Growth delay, Intrauterine growth retardation, Hepatic steatosis... |
OMIM:616271 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Jaundic... |
ORPHA:20 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Compensated hypothyroidism, Hypoglycemia, Hypoglycemic seizures |
ORPHA:480864 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Cryptorchidism, Low ... |
ORPHA:79324 |
Reticular Dysgenesis |
|
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss |
ORPHA:33355 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre... |
ORPHA:905 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Hernia, Weight loss |
ORPHA:26790 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Short stature, Pancreatic fibrosis, Postnatal growth retardation... |
OMIM:616263 |
Microsporidiosis |
|
Cholangitis, Cachexia, Abnormality of the spleen, Peritonitis, Abnormality of the parathyroid gla... |
ORPHA:2552 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Hypoglycemia, Premature thelarche, Hypothyroidism, Premature pubarche |
OMIM:616878 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Central Diabetes Insipidus |
|
Failure to thrive, Diabetes insipidus, Weight loss |
ORPHA:178029 |
Holoprosencephaly |
|
Omphalocele, Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy, Congenital diaphragma... |
ORPHA:2162 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Micrognathia, T lymphoc... |
OMIM:617237 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Flexion contracture, Growth delay, Fai... |
ORPHA:17 |
Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia, Supernumerary nipple, Contracture of the proximal interphalangeal joint of the 4th toe |
ORPHA:457279 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of the thyroid gland, Short stature, Cachexia |
ORPHA:1969 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Microphthalmia, Syndromic 3 |
|
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal growth ret... |
OMIM:206900 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Inc... |
ORPHA:100080 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Short palm, Macrocytic anemia, Metaph... |
OMIM:250250 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Hypogonadism... |
ORPHA:1328 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Shigellosis |
|
Hypoglycemia, Failure to thrive in infancy, Peritonitis, Cholestasis, Splenic abscess, Hepatic fa... |
ORPHA:810 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:66661 |
Acrofacial Dysostosis, Rodríguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failu... |
OMIM:229600 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:42642 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss |
ORPHA:50251 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Short stature, Failure to thrive in infancy, Hypogonadotropic hypogonad... |
OMIM:176270 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Wei... |
ORPHA:100085 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Emotional labili... |
ORPHA:309271 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Growth delay, Hyperglycemia, Failure to thrive |
ORPHA:3008 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Weight loss |
ORPHA:545 |
Immunodeficiency 31C |
|
Hepatomegaly, Diabetes mellitus, Short stature, Splenomegaly, Weight loss, Growth delay, Delayed ... |
OMIM:614162 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Hepatic ... |
ORPHA:79474 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Long fibula, Cognitive impairment, Abnormal metaphysis morphology, Lymphopenia, Anemia |
ORPHA:935 |
Menkes Disease |
|
Inguinal hernia, Hypopigmentation of hair, Hypoglycemia, Woolly hair, Atypical scarring of skin, ... |
ORPHA:565 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Lamb-Shaffer Syndrome |
|
Broad nasal tip, Abnormal social behavior, Ataxia, Micrognathia |
ORPHA:530983 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Narrow grea... |
OMIM:617425 |
14Q22Q23 Microdeletion Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of ... |
ORPHA:264200 |
Isolated Succinate-Coq Reductase Deficiency |
|
Severe short stature, Proportionate short stature, Weight loss, Knee flexion contracture, Intraut... |
ORPHA:3208 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Portal hypert... |
ORPHA:171 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Cryptorchidism, Hypoglycemia, Low anterior hairline |
OMIM:620224 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Dec... |
ORPHA:760 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Ovarian neoplasm, ... |
ORPHA:2221 |
Pgm3-Cdg |
|
Hemolytic anemia, Brachydactyly, Abnormal proportion of CD8-positive T cells, Eosinophilia, Ataxi... |
ORPHA:443811 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Delayed puberty, Hepa... |
OMIM:232240 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Highly arched eyebrow, Postnat... |
OMIM:620305 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Reactive hypoglycemia, Jaundice, Growth delay, Chronic hepatic failure |
ORPHA:469 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Growth delay, Hepatic failure, Failure to thrive |
OMIM:252010 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant ... |
ORPHA:3464 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Short phalanx of finger, Broad met... |
ORPHA:508533 |
Ulnar-Mammary Syndrome |
|
Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Sparse axillary hair... |
OMIM:181450 |
X-Linked Agammaglobulinemia |
|
Alopecia, Short stature, Hepatitis, Weight loss, Cellulitis, Failure to thrive |
ORPHA:47 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Inguinal hernia, Short stature, Elevated circulating aspartate aminotransferase con... |
OMIM:619534 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Hypoglycemia, Camptodactyly of finger, Abnormal dental enamel morpholog... |
ORPHA:2710 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Inc... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Inc... |
ORPHA:100082 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Prolactinoma |
|
Abnormal hair quantity, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating ... |
ORPHA:2965 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm ... |
ORPHA:508542 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Short stature, Abnormality of the anterior pituitary, Coarse hair, Poster... |
ORPHA:75389 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Cognitive impairment, ... |
OMIM:616541 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypoglycemia, Jaundice, Growth delay, Intrauterine growth retardation, Failure to thrive |
ORPHA:79282 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Talipes equinovarus, Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess |
OMIM:619752 |
Holoprosencephaly 9 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:610829 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Growth delay, Neonatal death, Failure to thrive, Neonatal hypoglycemia |
OMIM:617248 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Short stature, Aplasia of the right hemidiaphragm, Highly arched eyebrow, Ante... |
OMIM:619841 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Hypoglycemia |
OMIM:615751 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Short stature, Subcutaneous lipoma |
ORPHA:79076 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Adrenocortical cytomegaly, Hypoglycemia, Congenital d... |
ORPHA:116 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Growth delay, Hepatic fibr... |
ORPHA:2072 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Polycystic ovaries |
ORPHA:137675 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level |
OMIM:619767 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polyd... |
OMIM:236680 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hepatic failure, Hepatic calcification, Hypoketotic hypoglycemia |
ORPHA:157 |
Occipital Horn Syndrome |
|
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... |
ORPHA:198 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De... |
ORPHA:466791 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ACTH level, Weight loss, Incre... |
ORPHA:100075 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Hyperthyroidism, Weight loss |
OMIM:188580 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Short stature, Cachexia, Abnormal hair morphology, Low anterior hairline |
ORPHA:647 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Secondary Short Bowel Syndrome |
|
Cholestasis, Weight loss, Growth delay, Central hypothyroidism, Primary hypothyroidism, Failure t... |
ORPHA:95427 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional l... |
ORPHA:309263 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Panniculitis, Weight loss |
ORPHA:33577 |
Giant Axonal Neuropathy |
|
Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi |
ORPHA:643 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:391 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Macular atrophy, Cleft upper lip, Micrognathia, Oc... |
OMIM:242840 |
Eosinophilic Fasciitis |
|
Fasciitis, Weight loss, Cellulitis |
ORPHA:3165 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Weight loss, Hypoglycemia, Glycosuria |
ORPHA:3337 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Weight loss |
ORPHA:142 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Weight loss |
ORPHA:69077 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid... |
OMIM:619487 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Norrie Disease |
|
Diabetes mellitus, Cachexia, Cryptorchidism, Delayed puberty, Failure to thrive |
ORPHA:649 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:507 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic calcification, Hepatic failure, Hepatic steatosis, Hypoketotic hypoglycemia |
ORPHA:228308 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Intrauterine growth retardation, Neonatal hypoglycemia |
ORPHA:572798 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Weight loss |
ORPHA:86884 |
Immunodeficiency 27A |
|
Splenomegaly, Hepatosplenomegaly, Weight loss |
OMIM:209950 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Congenital dia... |
ORPHA:373 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Wide nose, Ataxia, Anteverted nares, Bulbous nose, Mesiodens, Dysmetria, Positive Romberg sign, N... |
ORPHA:314647 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Paraganglioma, Weight loss |
ORPHA:94080 |
Cholera |
|
Hypoglycemia |
ORPHA:173 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Weight loss |
ORPHA:33276 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss |
ORPHA:99868 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Weig... |
ORPHA:144 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Hypoglycemia, Small for gestational age, Highly arched eyebrow, Increased hepato... |
OMIM:220111 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
Proteus Syndrome |
|
Thymus hyperplasia, Macroorchidism, Abnormal dental enamel morphology, Cachexia, Testicular neopl... |
ORPHA:744 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture |
OMIM:118650 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Lethargy, Thrombocytopenia |
ORPHA:319218 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Micrognathia, Optic atrophy, Dysmetria, Knee flexion contracture, Bilateral talipes equin... |
OMIM:619708 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Short ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Short ... |
ORPHA:99228 |
Monosomy X |
|
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Short ... |
ORPHA:99226 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Weig... |
ORPHA:440437 |
Turner Syndrome |
|
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Alopecia, Short ... |
ORPHA:881 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Adrenocortical carcinoma, Pancreatic hyperp... |
OMIM:130650 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Splenomegaly, Weight loss, Hepatosplenom... |
ORPHA:354 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Alopecia, Weight loss |
ORPHA:79242 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:3226 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Micrognathia |
ORPHA:2268 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenome... |
OMIM:613179 |
Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... |
ORPHA:100086 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia |
ORPHA:25 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Ataxia-Telangiectasia |
|
Ataxia, Inability to walk, Acute lymphoblastic leukemia, T lymphocytopenia, Choreoathetosis, Prog... |
OMIM:208900 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss, Growth dela... |
ORPHA:251071 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Liver abscess, Abnormality of the pancreas, Weight loss, Abnormal ... |
ORPHA:54251 |
Choreoacanthocytosis |
|
Bradyphrenia, Short attention span, Impaired vibratory sensation, Temporomandibular joint crepitu... |
ORPHA:2388 |
Felty Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss, Cellulitis |
ORPHA:47612 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Weight loss |
ORPHA:704 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Hypopigmentation of hair, Diabetes mellitus, Short stature, Failure to thrive in in... |
OMIM:219800 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... |
OMIM:602450 |
Marfan Syndrome |
|
Inguinal hernia, Slender build, Cachexia |
ORPHA:558 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellula... |
ORPHA:90062 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Costello Syndrome |
|
Curly hair, Short stature, Hypoglycemia, Achilles tendon contracture, Sparse hair, Failure to thrive |
OMIM:218040 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... |
ORPHA:284 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro... |
OMIM:127550 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... |
ORPHA:64744 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Progressive gait ataxia, Abnormal social behavior, Gait ataxia |
ORPHA:309256 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Short attention span, Ataxia, Micrognathia, Prominent nose, Bulbous nose, ... |
OMIM:156200 |
Stickler Syndrome |
|
Slender build, Short stature, Abnormal dental enamel morphology, Cachexia |
ORPHA:828 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Wide nose, Small for ... |
ORPHA:93357 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
Nephroblastoma |
|
Neoplasm of the liver, Weight loss |
ORPHA:654 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Neonatal hypoglycemia, Large for gestational age, Sparse eyebrow, Slender build, Broad eyebrow |
ORPHA:457359 |
Aggressive Systemic Mastocytosis |
|
Portal hypertension, Hypersplenism, Hepatosplenomegaly, Weight loss, Decreased liver function |
ORPHA:98850 |
Polymyositis |
|
Hepatomegaly, Chondrocalcinosis, Weight loss |
ORPHA:732 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Holoprosencephaly 1 |
|
Short stature, Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia |
OMIM:236100 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Retrognathia, Irritability, ... |
ORPHA:1675 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Weight loss, Hypothyroidism |
OMIM:613673 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Precocious puberty, Jaundice, Weight loss, Ovarian neoplasm, Pancreatitis |
ORPHA:370348 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Multiple joint contractures, Depressed nasal bridge, Hair-pulling, Wide nasal bridge, Irritability |
ORPHA:447997 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... |
ORPHA:29072 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Thyroiditis, Hepatitis, Weight loss |
ORPHA:139402 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Primary testicular failure, Hepatosplenomegaly, Weight loss, Hypogonadism, Decrease... |
ORPHA:85450 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Failure to thrive, Abnormality of connective tissue, Weight loss |
ORPHA:79128 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Small intestine carcinoid, ... |
ORPHA:100078 |
Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism, Weight loss |
ORPHA:514 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of... |
OMIM:218330 |
Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Cleft upper lip, Absent radius, Short thumb, Micr... |
OMIM:214800 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... |
ORPHA:276621 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Short stature, Decreased b... |
ORPHA:314621 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Dry hair, Short stature, Postnatal growth retardation, Splenome... |
ORPHA:576 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Giant Cell Arteritis |
|
Alopecia, Hepatic failure, Diabetes insipidus, Weight loss |
ORPHA:397 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decre... |
ORPHA:273 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Weight loss, Failure to thrive |
ORPHA:37 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Liver Disease, Severe Congenital |
|
Dry hair, Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepati... |
OMIM:619991 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Hair-pulling, Depressed nasal bridge, Ataxia |
OMIM:616393 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Prominent nasal tip, Pain insensitivity, Broad nasal tip, Hair-pulling, Wi... |
OMIM:620330 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Monosomy 22Q13.3 |
|
Impaired pain sensation, Hair-pulling, Bulbous nose, Dental malocclusion, Obesity, Wide nasal bri... |
ORPHA:48652 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss |
ORPHA:729 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Abnormal spleen physiology, Weight loss |
ORPHA:398063 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Median cleft lip, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial ... |
ORPHA:2753 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Hypoglycemia, Orchitis, Jaundice, Pancreatitis |
ORPHA:99826 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin resistance... |
ORPHA:740 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Flexion contracture, Weight loss, Hepatosplenomegaly, Enthesitis |
ORPHA:85408 |
Kinsship Syndrome |
|
Thin upper lip vermilion, Pes planus, Micrognathia, Coxa valga, Thick lower lip vermilion, Hip di... |
OMIM:619297 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Primary Intestinal Lymphangiectasia |
|
Growth delay, Peritoneal effusion, Weight loss |
ORPHA:90362 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... |
OMIM:304120 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Cleft upper lip, Osteopathia striata, T... |
OMIM:300373 |
Niemann-Pick Disease Type C |
|
Ataxia, Progressive neurologic deterioration, Chorea, Depression, Progressive gait ataxia, Dement... |
ORPHA:646 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Systemic Capillary Leak Syndrome |
|
Pancreatitis, Weight loss |
ORPHA:188 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Weight loss, Hepatosplenome... |
ORPHA:781 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia |
OMIM:261740 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Al Amyloidosis |
|
Hepatomegaly, Abnormality of the liver, Abnormal salivary gland morphology, Weight loss |
ORPHA:85443 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hepatomegaly, Cachexia |
ORPHA:75565 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Thymoma |
|
Neoplasm of the thyroid gland, Weight loss |
ORPHA:99867 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Small for gestational age, Prominent nasal bridge, Thick nasal alae, Underdeveloped nasal alae, B... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Small for gestational age, Prominent nasal bridge, Thick nasal alae, Underdeveloped nasal alae, B... |
ORPHA:363958 |
Carney-Stratakis Syndrome |
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Paraganglioma, Weight loss |
ORPHA:97286 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Ménétrier Disease |
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Weight loss |
ORPHA:2494 |
Neuroblastoma, Susceptibility To, 1 |
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Failure to thrive, Weight loss |
OMIM:256700 |
Fatal Familial Insomnia |
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Weight loss |
OMIM:600072 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Parkinson Disease 4, Autosomal Dominant |
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Weight loss |
OMIM:605543 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
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Weight loss |
ORPHA:324964 |
Amoebiasis Due To Entamoeba Histolytica |
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Elevated hepatic transaminase, Liver abscess, Weight loss |
ORPHA:67 |
Aicardi-Goutieres Syndrome 7 |
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Hepatomegaly, Splenomegaly, Hypothyroidism, Hepatitis, Weight loss, Intrauterine growth retardati... |
OMIM:615846 |
2Q23.1 Microdeletion Syndrome |
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Tented upper lip vermilion, Ataxia, Sandal gap, Hip dysplasia, Everted lower lip vermilion, Short... |
ORPHA:228402 |
Pneumocystosis |
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Weight loss |
ORPHA:723 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Fanconi Anemia |
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Short stature, Cryptorchidism, Weight loss, Growth delay, Abnormality of the liver, Hypogonadism,... |
ORPHA:84 |
Mend Syndrome |
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Prominent nasal bridge, Micrognathia, Abnormal social behavior, Abnormal nasal bridge morphology,... |
ORPHA:401973 |
Acute Promyelocytic Leukemia |
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Weight loss |
ORPHA:520 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:98849 |
Imerslund-Gräsbeck Syndrome |
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Failure to thrive, Weight loss |
ORPHA:35858 |
Erdheim-Chester Disease |
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Retroperitoneal fibrosis, Hypogonadotropic hypogonadism, Diabetes insipidus, Weight loss |
ORPHA:35687 |
Eosinophilic Granulomatosis With Polyangiitis |
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Weight loss |
ORPHA:183 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypog... |
ORPHA:79318 |
Pancreatoblastoma |
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Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
African Trypanosomiasis |
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Hepatomegaly, Alopecia, Abnormality of the endocrine system, Splenomegaly, Jaundice, Weight loss,... |
ORPHA:3385 |
Malignant Atrophic Papulosis |
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Peritonitis, Weight loss |
ORPHA:679 |
Simple Cryoglobulinemia |
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Viral hepatitis, Weight loss |
ORPHA:91139 |
Glossopharyngeal Neuralgia |
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Weight loss |
ORPHA:221098 |
Nocardiosis |
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Liver abscess, Peritonitis, Thyroiditis, Weight loss, Abnormality of the adrenal glands, Cellulitis |
ORPHA:31204 |
Gerstmann-Straussler Disease |
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Weight loss |
OMIM:137440 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of hair, Long eyelashes, Abnormal dental enamel morphology, Weight loss |
ORPHA:79430 |
Congenital Fiber-Type Disproportion Myopathy |
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Hip contracture, Failure to thrive, Ankle flexion contracture, Flexion contracture, Elbow flexion... |
ORPHA:2020 |
Stevens-Johnson Syndrome |
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Acute hepatic failure, Pancreatitis, Elevated hepatic transaminase, Weight loss |
ORPHA:36426 |
Igg4-Related Kidney Disease |
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Retroperitoneal fibrosis, Abnormal mesentery morphology, Abnormality of the anterior pituitary, T... |
ORPHA:449395 |
Igg4-Related Retroperitoneal Fibrosis |
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Hydrocele testis, Hashimoto thyroiditis, Weight loss |
ORPHA:49041 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Growth delay, Exocrine pancreatic insufficiency, Weight loss |
ORPHA:309031 |
Brucellosis |
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Hepatomegaly, Liver abscess, Small for gestational age, Hypersplenism, Splenomegaly, Orchitis, We... |
ORPHA:1304 |
Toxic Epidermal Necrolysis |
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Acute hepatic failure, Pancreatitis, Elevated hepatic transaminase, Weight loss |
ORPHA:537 |
Sarcoidosis |
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Hepatomegaly, Alopecia, Hyperthyroidism, Diabetes insipidus, Scarring, Portal hypertension, Enlar... |
ORPHA:797 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Weight loss, Enlargement of paro... |
ORPHA:79078 |
Malt Lymphoma |
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Abnormality of the thyroid gland, Weight loss |
ORPHA:52417 |
Sotos Syndrome |
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Hip contracture, Inguinal hernia, Ankle flexion contracture, Sparse anterior scalp hair, Bilatera... |
ORPHA:821 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Failure to thrive, Weight loss |
ORPHA:1018 |
Juvenile Dermatomyositis |
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Alopecia, Weight loss |
ORPHA:93672 |
Familial Thrombocytosis |
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Splenomegaly, Weight loss |
ORPHA:71493 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Weight loss |
OMIM:607459 |
Williams Syndrome |
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Inguinal hernia, Ataxia, Abnormal dental enamel morphology, Failure to thrive in infancy, Microgn... |
ORPHA:904 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Weight loss |
ORPHA:747 |
Castleman Disease |
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Jaundice, Weight loss |
ORPHA:160 |
Granulomatosis With Polyangiitis |
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Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Pancreatitis, Weight loss |
ORPHA:900 |
Riddle Syndrome |
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Short stature, Weight loss |
ORPHA:420741 |
Reactive Arthritis |
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Weight loss, Dystrophic fingernails, Enthesitis |
ORPHA:29207 |
Hereditary Late-Onset Parkinson Disease |
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Weight loss |
ORPHA:411602 |
Tuberous Sclerosis Complex |
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Depression, Abnormal social behavior, Attention deficit hyperactivity disorder, Shagreen patch |
ORPHA:805 |
Rat-Bite Fever |
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Pancreatitis, Parotitis, Weight loss |
ORPHA:31205 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Kikuchi-Fujimoto Disease |
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Elevated hepatic transaminase, Hepatomegaly, Alopecia, Splenomegaly, Weight loss, Enlargement of ... |
ORPHA:50918 |
Pyomyositis |
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Testicular teratoma, Weight loss |
ORPHA:764 |
Pulmonary Alveolar Microlithiasis |
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Hepatomegaly, Testicular microlithiasis, Weight loss |
ORPHA:60025 |
Multiple Myeloma |
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Splenomegaly, Weight loss |
ORPHA:29073 |
Dermatomyositis |
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Abnormal hair quantity, Weight loss, Chondrocalcinosis, Cellulitis |
ORPHA:221 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Splenomegaly, Enlarged lacrimal glands, Weight loss, Abnormal salivary gland morpho... |
OMIM:181000 |
Postinfectious Vasculitis |
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Orchitis, Viral hepatitis, Weight loss |
ORPHA:48435 |
Behçet Disease |
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Orchitis, Splenomegaly, Pancreatitis, Weight loss |
ORPHA:117 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
Chronic Graft Versus Host Disease |
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Elevated hepatic transaminase, Alopecia, Fasciitis, Flexion contracture, Weight loss, Nail dystrophy |
ORPHA:99921 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Weight loss |
OMIM:301074 |
Immunodeficiency 82 With Systemic Inflammation |
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Splenomegaly, Hepatitis, Weight loss |
OMIM:619381 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Chorioretinal scar, Weight loss |
ORPHA:91500 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |