Ulerythema Ophryogenesis |
|
Miscarriage, Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, C... |
ORPHA:3406 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,... |
ORPHA:79395 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ichthyosis, Er... |
OMIM:612281 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Parakeratosis, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Cholestasis, ... |
OMIM:607626 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform eryth... |
OMIM:607602 |
Lamellar Ichthyosis |
|
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Ichthyosis, Erythroderma, Dry skin |
ORPHA:313 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Skin rash, Eczema, Edema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Hyperkerato... |
ORPHA:2584 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Thickened skin, Lack of skin elasticity, Weight loss, Palmoplantar keratoderma, Type I ... |
ORPHA:1979 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Inflammatory abnormality of the skin, Increased circulating free fatty acid lev... |
OMIM:610768 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Weight loss, Hyperker... |
ORPHA:317 |
Huriez Syndrome |
|
Dry skin, Lack of skin elasticity, Sclerodactyly, Palmoplantar keratoderma |
ORPHA:384 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin res... |
OMIM:615381 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Acral Self-Healing Collodion Baby |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... |
ORPHA:281127 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... |
OMIM:604777 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly |
OMIM:212360 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Atop... |
ORPHA:530838 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... |
ORPHA:324575 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Eczema, Aggressive behavior, Hyperphenylalaninemia... |
OMIM:261600 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Aquagenic Palmoplantar Keratoderma |
|
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... |
ORPHA:498359 |
Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Ichthyosis, Pa... |
OMIM:615508 |
Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Dry skin, Ichthyosis |
OMIM:146700 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Eczema, Dry skin, Cutis laxa, Hyperkeratosis, Ichthyosis, Dysphagi... |
OMIM:612379 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Dehydration, Dysphagia, Intrauterine g... |
OMIM:618958 |
Reticular Dysgenesis |
|
Fever, Skin rash, Skin ulcer, Weight loss, Dehydration, Failure to thrive |
ORPHA:33355 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... |
OMIM:615023 |
Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
Dermatitis, Atopic |
|
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Ichthyos... |
OMIM:603165 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... |
ORPHA:64745 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Attention deficit hyperactivity disorder, Ichthyosis |
ORPHA:461 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Lack of skin elasticity |
ORPHA:1366 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
Costello Syndrome |
|
Failure to thrive in infancy, Redundant skin, Polyhydramnios, Lack of skin elasticity, Hyperkerat... |
ORPHA:3071 |
Stiff Skin Syndrome |
|
Type II diabetes mellitus, Abnormal circulating lipid concentration, Lack of skin elasticity, Thi... |
ORPHA:2833 |
Congenital Lethal Erythroderma |
|
Death in infancy, Congenital exfoliative erythroderma, Dry skin, Hypoalbuminemia, Ichthyosis, Fai... |
ORPHA:1954 |
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin, Ichthyosis |
ORPHA:2271 |
Combined Malonic And Methylmalonic Acidemia |
|
Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Dehyd... |
ORPHA:289504 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Dehydration, Decreased ci... |
ORPHA:79159 |
Central Diabetes Insipidus |
|
Fever, Hyponatremia, Anorexia, Dehydration, Weight loss, Polydipsia, Failure to thrive |
ORPHA:178029 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:617574 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por... |
ORPHA:369 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Death in infancy, Elevated circul... |
OMIM:614576 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Type II diabetes mellitus |
ORPHA:2297 |
Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Erythema, Dry skin, Ichthyosis |
ORPHA:816 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Abnormal elasticity of skin, Follicular hyperkeratosis, Dry skin, Mildly elevated cre... |
ORPHA:486815 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Antisynthetase Syndrome |
|
Fever, Skin rash, Elevated circulating creatine kinase concentration, Edema, Pruritus, Xerostomia... |
ORPHA:81 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hy... |
OMIM:245400 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, A... |
OMIM:262190 |
Beta-Ketothiolase Deficiency |
|
Fever, Hepatomegaly, Hypoglycemia, Edema, Anorexia, Dehydration, Weight loss, Hyperammonemia, Agi... |
ORPHA:134 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk... |
OMIM:257980 |
Harlequin Ichthyosis |
|
Malignant hyperthermia, Dehydration, Hyperkeratosis, Self-injurious behavior, Congenital ichthyos... |
ORPHA:457 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Classic Phenylketonuria |
|
Eczema, Lack of skin elasticity, Self-injurious behavior, Attention deficit hyperactivity disorde... |
ORPHA:79254 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Polyhydramnios, Large for gestational age, Obesity, Truncal obesity, Fasting hypogl... |
OMIM:240900 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Increased C-peptide level, Hypogl... |
ORPHA:276556 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Increased C-peptide level, Hyperinsulinemia, Hypoglycemi... |
ORPHA:276575 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Pruritus, Dry skin |
OMIM:617920 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Increased C-peptide level, Hyperinsul... |
ORPHA:276580 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Elevated 8-dehydrocholesterol, Erythema, Elevated 8(9)-cholestenol, Hyperkeratosis... |
OMIM:308050 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Long eyelashes, Polyhydramnios, Dehydration |
OMIM:616069 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbullous ichthyosiform erythrode... |
OMIM:614457 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Dehydration, Increased ci... |
OMIM:610600 |
Werner Syndrome |
|
Miscarriage, Insulin resistance, Lack of skin elasticity, Skin ulcer, Hyperkeratosis, Type II dia... |
ORPHA:902 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
Familial Cold Urticaria |
|
Fever, Pruritus, Erythema, Dehydration, Polydipsia |
ORPHA:47045 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:212140 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Abnormality of body weight, Decreased body weight |
ORPHA:314811 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Hyperammonemia, Attention deficit hyperact... |
OMIM:620211 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Nonimmune hydrops fetalis, Increased circulating ferritin concentration, Cholestasi... |
OMIM:231100 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa |
OMIM:617337 |
Ledderhose Disease |
|
Lack of skin elasticity |
ORPHA:199251 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... |
ORPHA:171876 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest... |
OMIM:618156 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest... |
ORPHA:26793 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg... |
OMIM:617388 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Fever, ... |
ORPHA:20 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Sézary Syndrome |
|
Hepatomegaly, Edema, Pruritus, Splenomegaly, Palmoplantar keratoderma, Erythroderma, Dry skin |
ORPHA:3162 |
Mantle Cell Lymphoma |
|
Fever, Splenomegaly, Anorexia, Weight loss |
ORPHA:52416 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Acanthosis nigricans, Dry skin |
ORPHA:3085 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive |
OMIM:609180 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Dehydration, Elevated seru... |
ORPHA:556030 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Lack of skin elasticity |
ORPHA:90153 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weight loss, Cholestasis, S... |
ORPHA:95427 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Failure to thrive, Hyperammonemia, Dehydration |
ORPHA:28 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Cutis laxa, Generalized ichthyosis, Scaling skin, Dry skin, Generalized hyperkeratosis |
ORPHA:2269 |
Omenn Syndrome |
|
Fever, Hepatomegaly, Edema, Pruritus, Splenomegaly, Thickened skin, Dry skin, Erythroderma, Failu... |
ORPHA:39041 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Failure to thrive |
OMIM:264350 |
Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Dry skin, Palmoplantar keratoderma |
OMIM:224750 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Anorexia, Splenomegaly, Dehydration, Hyperammonemia, Failure to thrive, Pancreatitis |
ORPHA:79312 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplan... |
ORPHA:312 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... |
OMIM:251880 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... |
OMIM:557000 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Intrauterine growth retardation... |
OMIM:612940 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Anorexia, Hyperk... |
ORPHA:199299 |
Leri Pleonosteosis |
|
Thickened skin, Lack of skin elasticity |
ORPHA:2900 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Polyhydramnios, Aggressive behavior, Large for gestational age, Attention deficit h... |
OMIM:619075 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Hyperkeratosis, Failure to thrive, Palmoplantar hyperkeratosis |
ORPHA:89838 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss, Palmoplantar keratoderma, Dysphagia, Ascites |
ORPHA:2198 |
Tooth Agenesis, Selective, 8 |
|
Dry skin |
OMIM:617073 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Anonychia With Flexural Pigmentation |
|
Dry skin |
OMIM:106750 |
Primary Erythromelalgia |
|
Pruritus, Erythema, Hypothermia |
ORPHA:90026 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Cystinosis |
|
Fever, Portal hypertension, Dehydration, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus,... |
ORPHA:213 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin |
ORPHA:2812 |
Anonychia With Flexural Pigmentation |
|
Hyperkeratosis, Follicular hyperkeratosis |
ORPHA:69125 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:223500 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Small for gestational age,... |
OMIM:208085 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level, F... |
OMIM:177735 |
Pulmonary Blastoma |
|
Fever, Weight loss |
ORPHA:64741 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase conc... |
OMIM:619048 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia |
OMIM:615026 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Obesity, Fasting hypoglycemia, Abnormal circulating selenium concentration |
ORPHA:171706 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
Netherton Syndrome |
|
Skin rash, Eczema, Dehydration, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ery... |
ORPHA:634 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypothermia, Facial edema, Dry skin, Abnormal circulating thyroglobulin level, Attention deficit ... |
ORPHA:90674 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin |
OMIM:308800 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, ... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, An... |
OMIM:619386 |
Spontaneous Periodic Hypothermia |
|
Skin rash, Pallor, Hypothermia |
ORPHA:29822 |
Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617950 |
Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin |
ORPHA:1184 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, ... |
OMIM:618839 |
Prolidase Deficiency |
|
Hepatomegaly, Pruritus, Splenomegaly, Erythema, Crusting erythematous dermatitis, Skin ulcer, Hyp... |
ORPHA:742 |
Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration, Steatorrhea |
OMIM:615237 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Insulin resistance, Dehydration, Death in childhood, Failure to thrive |
OMIM:214150 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase... |
ORPHA:446 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Failure to thrive, Chilblains, P... |
OMIM:619487 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Fever, Neonatal insulin-depen... |
ORPHA:1667 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae |
OMIM:178995 |
Striae Distensae, Familial |
|
Striae distensae |
OMIM:185200 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Eczema, Dehydration, Hyperammonemia, Hyperglycinemia, Failure to thri... |
OMIM:606054 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma... |
ORPHA:79501 |
Leopard Syndrome 3 |
|
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis |
OMIM:613707 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis |
ORPHA:79503 |
Pili Torti-Onychodysplasia Syndrome |
|
Dry skin, Generalized keratosis follicularis, Eczema, Palmoplantar keratoderma |
ORPHA:2890 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Fever, Hepatomegaly, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:617872 |
Galactokinase Deficiency |
|
Hepatomegaly, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Incr... |
ORPHA:79237 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... |
ORPHA:90280 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Failure to thrive |
OMIM:222765 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Pruritus, Dry skin, Eczema, Palmoplantar keratoderma |
OMIM:618535 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Anorexia, Intrahepatic ... |
ORPHA:97282 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli... |
OMIM:616295 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Mild intrauterine growth retardation, Dry skin, Small for gestational age, Ichthyosis |
OMIM:616943 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Prolonged neonatal jaundice |
OMIM:262400 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... |
ORPHA:71212 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsuli... |
ORPHA:79474 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Dehydration, Hepatic fibrosis, Hyponatremia, Hepatosplenomegaly... |
ORPHA:275761 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level |
OMIM:620126 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Dry skin, Hepatic steatosis |
ORPHA:300536 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Dry skin, Increased body weight |
OMIM:614450 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Truncal obesity, Incr... |
OMIM:610475 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Failure to thrive, Small for gestational age, Hypoglycemia, Pericardial effusion... |
OMIM:614702 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Parakeratosis, Super... |
ORPHA:284426 |
Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Dry skin, Scaling skin |
OMIM:612952 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level |
OMIM:620125 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Dehydration, Hyperammonemia, Hyperglycinemia,... |
OMIM:251000 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Fever, Hepatomegaly, Anorexia, Pruritus, Splenomegaly, Weight loss |
ORPHA:86893 |
Pseudoxanthoma Elasticum |
|
Acne, Skin rash, Pruritus, Lack of skin elasticity, Excessive wrinkled skin, Hyperextensible skin... |
ORPHA:758 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Dehydration, Death in adolescence, Death in childhood, Type I diabetes mellitus, Fa... |
OMIM:560000 |
Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Autosomal Agammaglobulinemia |
|
Fever, Recurrent skin infections, Skin rash, Hepatitis, Dehydration, Failure to thrive |
ORPHA:33110 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An... |
ORPHA:95409 |
Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Erythema, Follicular hyperkeratosis, Pruritus |
ORPHA:79100 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... |
ORPHA:2089 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Fever, Anorexia, Weight loss |
ORPHA:2023 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Intrauterine growth retar... |
ORPHA:26792 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Increased serum pyruvate, Small for gestational age, Hypoglycemia,... |
OMIM:615160 |
Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
Mehmo Syndrome |
|
Small for gestational age, Obesity, Aggressive behavior, Hypoglycemia |
OMIM:300148 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Congenital Tufting Enteropathy |
|
Dehydration, Weight loss, Cholestatic liver disease, Steatorrhea, Failure to thrive |
ORPHA:92050 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... |
ORPHA:263455 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Eczema, Aggressive behavior, Pica, Obesity, Dry skin |
OMIM:620191 |
Idiopathic Congenital Hypothyroidism |
|
Facial edema, Neonatal hyperbilirubinemia, Hypothermia, Prolonged neonatal jaundice |
ORPHA:95717 |
Menkes Disease |
|
Decreased circulating ceruloplasmin concentration, Hypothermia, Cutis laxa, Death in childhood, I... |
OMIM:309400 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Hypoglycemia |
OMIM:610090 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Dehydration, Hyperammonemia, ... |
OMIM:615453 |
Atelis Syndrome 1 |
|
Dry skin, Eczema, Attention deficit hyperactivity disorder |
OMIM:620184 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Decreased li... |
OMIM:246900 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Dry skin, Large for gestational age, Hypothermia, Prolonged neonatal jaundice |
ORPHA:226313 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Dry skin, Heat intolerance |
OMIM:129490 |
Dermoodontodysplasia |
|
Dry skin |
OMIM:125640 |
Baralle-Macken Syndrome |
|
Acanthosis nigricans, Obesity, Striae distensae |
OMIM:619255 |
Adrenocortical Carcinoma |
|
Diabetes mellitus, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... |
ORPHA:1501 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Dysphagia, Weight loss |
ORPHA:930 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Edema, Hypoalbuminemia, Ichthyosis |
OMIM:617575 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hepatomegaly, Hyperalaninemia, Hyperglutamatemia, Hypoglycemia, Increased serum... |
ORPHA:3008 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, Elevated circulati... |
OMIM:618838 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Elevated hepatic transaminase, Insulin-resistant diabetes mellitus, Dry skin, Acanthosis nigricans |
OMIM:268020 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferas... |
OMIM:617049 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increa... |
OMIM:214700 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Dehydration, Weight loss |
OMIM:143880 |
Tuberculosis |
|
Fever, Weight loss |
ORPHA:3389 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Cholera |
|
Fever, Hyponatremia, Miscarriage, Hypoglycemia, Abnormal blood ion concentration, Dehydration, Hy... |
ORPHA:173 |
Hatipoglu Immunodeficiency Syndrome |
|
Eczema, Thickened skin, Atopic dermatitis, Dry skin, Recurrent fever, Intrauterine growth retarda... |
OMIM:620331 |
Meningococcal Meningitis |
|
Fever, Skin rash, Anorexia, Hypothermia, Elevated circulating C-reactive protein concentration, P... |
ORPHA:33475 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Failure to thrive, Re... |
OMIM:203400 |
Shigellosis |
|
Fever, Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Anorexia, Peritonitis, Abnormal ... |
ORPHA:810 |
Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosi... |
ORPHA:166113 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis |
ORPHA:79399 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Dehydration |
OMIM:300200 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Chronic mucocutaneous candidiasis... |
OMIM:618282 |
Congenital Enterovirus Infection |
|
Fever, Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, Hypothermia, Hepatitis, Ch... |
ORPHA:292 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure |
ORPHA:156 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
8Q22.1 Microdeletion Syndrome |
|
Lack of skin elasticity |
ORPHA:178303 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Dry skin, Increased body weight, Aggressive behavior |
OMIM:300860 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:610006 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin, Attention deficit hyperactivity disorder |
OMIM:617364 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Obesity, Attention deficit hyperactivity disorder, Dysphagia, D... |
OMIM:619312 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia, Truncal obesity |
ORPHA:633 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia,... |
ORPHA:189427 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin, Obesity |
ORPHA:1035 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Dehydration, Increased circulat... |
ORPHA:90791 |
Familial Cervical Artery Dissection |
|
Abnormal circulating lipid concentration, Diabetes mellitus, Striae distensae |
ORPHA:36382 |
Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Lack of skin elasticity, Polyhydramnios, Ichthyosis |
ORPHA:2671 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Pruritus, Dry skin, Scaling skin |
OMIM:105250 |
Noonan Syndrome 8 |
|
Eczema, Polyhydramnios, Large for gestational age, Patent ductus arteriosus, Hyperkeratosis, Hype... |
OMIM:615355 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Fever, Hepatomegaly, Hypoglycemia, Hyperammonemia, Pallor, Hyperuricemia, Death in childhood |
OMIM:246450 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Dry skin, Prolonged neon... |
ORPHA:95715 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Soft skin, Hyperextensible skin, Striae distensae |
OMIM:130020 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Truncal obesity, Increased circulating cortisol level, Agitation, Primary hypercortisolism, Stria... |
OMIM:219080 |
Addison Disease |
|
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An... |
ORPHA:85138 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Small for gestational age, Hyperkeratosis, Congenital nonbullous ichthyosiform ... |
OMIM:601675 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
Osteootohepatoenteric Syndrome |
|
Pruritus, Microvesicular hepatic steatosis, Cholestasis, Dehydration, Weight loss, Hypokalemia, P... |
OMIM:619377 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Aggressive behavior |
OMIM:247100 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior... |
OMIM:300438 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... |
ORPHA:264580 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as... |
ORPHA:2088 |
Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Dry skin |
ORPHA:2617 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating branched chain am... |
ORPHA:2394 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Dry ... |
ORPHA:69087 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Juvenile Dermatomyositis |
|
Fever, Calcinosis, Palpebral edema, Skin rash, Elevated circulating creatine kinase concentration... |
ORPHA:93672 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Hyperammonemia, Pancreatitis, Dehydration |
ORPHA:27 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypothermia, Elevated circulating acylcarnitine conc... |
ORPHA:159 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Intrauterine growth retardation, Small for gestational age, Hypoglycemia |
ORPHA:231147 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Skin ulcer, Weight loss, Hyp... |
ORPHA:507 |
Lipodystrophy, Familial Partial, Type 7 |
|
Failure to thrive, Hypertriglyceridemia, Small for gestational age, Impaired glucose tolerance, F... |
OMIM:606721 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Hypoglycemia, Neonatal hypoglycemia, Decreased body weight |
ORPHA:231140 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat... |
ORPHA:79644 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Truncal obesity, Incr... |
OMIM:610489 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Intrauterine growth retardation, Hypothermia |
OMIM:614654 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Failure to thrive, Cachexia, Dry skin, Death in adolescence, Hypoa... |
OMIM:610965 |
Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Obesity, Dysphagia, Death in adolescence, Agitation, Decreased body weight, Intrauter... |
OMIM:619229 |
Rhizomelic Chondrodysplasia Punctata |
|
Dry skin, Ichthyosis |
ORPHA:177 |
Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Redundant skin, Lymphedema, Hyperkeratosis, Excessive wrinkled skin... |
ORPHA:1340 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Hypoglycemia, Decreased liver function |
ORPHA:67048 |
Donohue Syndrome |
|
Hyperinsulinemia, Acanthosis nigricans, Cholestasis, Hyperkeratosis, Hepatic fibrosis, Pancreatic... |
OMIM:246200 |
Familial Thyroid Dyshormonogenesis |
|
Hypothermia, Facial edema, Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level,... |
ORPHA:95716 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Scaling skin |
OMIM:617115 |
Moynahan Syndrome |
|
Hyperkeratosis, Cachexia |
ORPHA:2574 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
Alg11-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Dry skin, Temperature instability |
ORPHA:280071 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia |
OMIM:614741 |
Irida Syndrome |
|
Decreased circulating copper concentration, Intrahepatic cholestasis, Hyperkeratosis, Pallor, Ich... |
ORPHA:209981 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Dry skin |
OMIM:600906 |
Noonan Syndrome 5 |
|
Dry skin, Polyhydramnios, Large for gestational age |
OMIM:611553 |
Noonan Syndrome 13 |
|
Aggressive behavior, Lymphedema, Head-banging, Attention deficit hyperactivity disorder, Dry skin |
OMIM:619087 |
Spinocerebellar Ataxia Type 34 |
|
Dry skin |
ORPHA:1955 |
Glucose-Galactose Malabsorption |
|
Fever, Hypercalcemia, Dehydration, Weight loss, Hypernatremia, Failure to thrive |
ORPHA:35710 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Abnormal oral glucose tolerance, Hypertonic dehydration, Glycosuria |
OMIM:606824 |
Pearson Syndrome |
|
Hydrops fetalis, Dehydration, Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatome... |
ORPHA:699 |
Hypohidrotic Ectodermal Dysplasia |
|
Eczema, Xerostomia, Dry skin, Hyperkeratosis, Failure to thrive |
ORPHA:238468 |
Epidermolytic Palmoplantar Keratoderma |
|
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... |
ORPHA:2199 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Dry skin |
ORPHA:248 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hypothermia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine ... |
ORPHA:230 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... |
OMIM:617093 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypoglycemia, Hyperammonemia, Dysphagia, Intrauterine growth retardati... |
OMIM:618253 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Oral-pharyngeal dysphagia, Anorexia, Weight loss |
ORPHA:100083 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Dry skin |
OMIM:275100 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Dysphagia, Hepatosplenomeg... |
OMIM:608013 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... |
ORPHA:79096 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly... |
ORPHA:6 |
Eosinophilic Gastroenteritis |
|
Edema, Elevated circulating C-reactive protein concentration, Atopic dermatitis, Dysphagia, Weigh... |
ORPHA:2070 |
Bone Marrow Failure Syndrome 4 |
|
Dry skin, Eczema |
OMIM:618116 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
ORPHA:42 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Hypothermia, Bile duct proliferation, Macrovesicular... |
OMIM:618329 |
Timothy Syndrome |
|
Patent ductus arteriosus, Hypoglycemia, Hypocalcemia, Hypothermia |
OMIM:601005 |
Wolman Disease |
|
Fever, Hepatomegaly, Cachexia, Splenomegaly, Ascites, Steatorrhea, Hepatic failure |
ORPHA:75233 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h... |
ORPHA:35878 |
Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Striae distensae |
OMIM:618793 |
Familial Melanoma |
|
Neoplasm of the pancreas, Dry skin |
ORPHA:618 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Dermoodontodysplasia |
|
Dry skin |
ORPHA:1660 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Cutis laxa, Decrea... |
OMIM:301045 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Nonketotic hypoglycemia, Hypoglyce... |
OMIM:608836 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Failure to thrive, Perianal erythema, Splenomegaly, Decreased serum zinc, Perioral ... |
OMIM:201100 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Edema, Obesity, Facial erythema, Glucose intolerance, Abdominal obesi... |
OMIM:219090 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Seve... |
ORPHA:73272 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive |
OMIM:614736 |
Acrodermatitis Enteropathica |
|
Anorexia, Pustule, Erythema, Dry skin, Skin ulcer, Weight loss, Failure to thrive |
ORPHA:37 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Fever, Lymphedema, Splenomegaly, Weight loss, Pleural effusion |
ORPHA:545 |
Netherton Syndrome |
|
Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Congenit... |
OMIM:256500 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Hyperextensible skin, Elevated circulating creatine kinase concentration, Follicular hyperkeratosis |
ORPHA:300179 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Fever, Hypoglycemia, Pancreatitis, Hyperammonemia |
OMIM:620137 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Abdominal obesity, Striae distensae, Aggressive behavior |
OMIM:300354 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hypothermia, Jaundice, Hydrops fetalis, ... |
ORPHA:79282 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Death in infancy, Splenomegaly, Hyperprolinemia, Agitation, Hyperalanin... |
OMIM:619046 |
Dowling-Degos Disease |
|
Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Acne inversa, Heat intolerance |
ORPHA:79145 |
Endocardial Fibroelastosis |
|
Hypoglycemia |
ORPHA:2022 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... |
OMIM:620014 |
Distal Duplication 6P |
|
Intrauterine growth retardation, Dry skin |
ORPHA:1745 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Obesity, Pallor, Dry skin |
ORPHA:91355 |
Xeroderma Pigmentosum Variant |
|
Dry skin |
ORPHA:90342 |
Lichen Planopilaris |
|
Pruritus, Hyperkeratosis, Hepatitis, Skin ulcer |
ORPHA:525 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus, Comedonal acne, Decreased retinol-binding protein level, Follicular hyp... |
OMIM:615147 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Elevated... |
ORPHA:79240 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Dehydration, Glycosuria, Hyperglycemia, Abnormal ora... |
ORPHA:69076 |
Complex Regional Pain Syndrome |
|
Edema of the upper limbs, Erythema, Dry skin, Pedal edema |
ORPHA:83452 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, Death in infancy, Elevated circulating dodecanoylcarnitine concent... |
OMIM:619355 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Pruritus... |
ORPHA:905 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Dehydration, Intrauterine growth retardation, Hepatic steatosis, Neonatal hypogly... |
OMIM:616271 |
Adiposis Dolorosa |
|
Recurrent skin infections, Dry skin, Xerostomia, Obesity |
ORPHA:36397 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Polyhydramnios, Weight loss |
OMIM:620045 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Anorexia, Pruritus, Jaundice, Weight loss, Acholic stools, Cholest... |
ORPHA:65682 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:615821 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Peric... |
OMIM:618775 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
19Q13.11 Microdeletion Syndrome |
|
Intrauterine growth retardation, Failure to thrive, Dry skin, Cachexia |
ORPHA:217346 |
Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Self-injurious behavior, Honeycomb palmoplantar hyperkeratosis, Ichthyosis |
ORPHA:494 |
Weill-Marchesani Syndrome 2 |
|
Thickened skin, Patent ductus arteriosus, Lack of skin elasticity, Striae distensae |
OMIM:608328 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Failure to thrive, Recurrent hypoglycemia |
OMIM:202200 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con... |
ORPHA:399 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
Ramon Syndrome |
|
Hyperkeratosis, Diabetes mellitus, Failure to thrive |
ORPHA:3019 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart... |
OMIM:256810 |
Leopard Syndrome 2 |
|
Dry skin |
OMIM:611554 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Ascites, Attention deficit h... |
ORPHA:79239 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Dehydration, Abnormal circulati... |
ORPHA:168558 |
Pyridoxine-Dependent Epilepsy |
|
Restlessness, Hypoglycemia |
ORPHA:3006 |
Thyroid Dyshormonogenesis 1 |
|
Dry skin |
OMIM:274400 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Fever, Hyponatremia, Elevated circulating creatine kinase concentr... |
ORPHA:94093 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Ichthyosis, Palmoplantar scaling skin... |
ORPHA:100976 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Death in infancy, Failure to thrive, Hypertyrosinemia, Hypoglycemi... |
OMIM:617156 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Dehydration, Abnormal circulati... |
ORPHA:289548 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Dry skin, Obesity, Maternal diabetes |
ORPHA:3157 |
Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin |
ORPHA:90368 |
Refsum Disease |
|
Splenomegaly, Dry skin, Ichthyosis |
ORPHA:773 |
Bartter Syndrome, Type 1, Antenatal |
|
Fever, Hyperchloriduria, Small for gestational age, Increased serum prostaglandin E2, Polyhydramn... |
OMIM:601678 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, Hypothermia |
OMIM:614498 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pallor, Fasting hypoglycemia, Hyperuri... |
ORPHA:348 |
Bartter Syndrome, Type 2, Antenatal |
|
Fever, Hyperchloriduria, Small for gestational age, Increased serum prostaglandin E2, Polyhydramn... |
OMIM:241200 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Fever, Maculopapular exanthema, Skin rash, Hypoglycemia, Anorexia,... |
ORPHA:99826 |
Arthrogryposis And Ectodermal Dysplasia |
|
Hyperkeratosis, Diabetes mellitus, Dry skin |
OMIM:601701 |
Classic Hodgkin Lymphoma |
|
Fever, Hepatomegaly, Skin rash, Anorexia, Pruritus, Splenomegaly, Weight loss |
ORPHA:391 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Lack of skin elasticity, Thickened skin |
OMIM:231050 |
Proteus Syndrome |
|
Splenomegaly, Hyperkeratosis |
OMIM:176920 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Fever, Polydipsia, Hyponatremia, Hypothermia, Aggressive behavior,... |
ORPHA:293987 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Dehydration, Hyperglycinemia, Failure to th... |
OMIM:251110 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Fever, Hepatomegaly, Lymphedema, Splenomegaly, Weight loss, Pallor |
ORPHA:3226 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Fever, Hypoglycemia, Reduced C-peptide level, Weight loss, Neopla... |
ORPHA:2126 |
Koolen-De Vries Syndrome |
|
Failure to thrive, Hyperactivity, Small for gestational age, Eczema, Impulsivity, Patent ductus a... |
OMIM:610443 |
Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Dehydration, Pallor, Dysph... |
ORPHA:2131 |
Leprechaunism |
|
Hepatomegaly, Thickened skin, Insulin resistance, Hyperinsulinemia, Acanthosis nigricans, Hyperke... |
ORPHA:508 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Hypercalcemia, Renal hypophospha... |
ORPHA:94059 |
Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Dry skin, Abnormal repetitive mannerisms |
ORPHA:79155 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypertonic dehydration, Hypernatremia, Unexplained fevers, Polydipsia, Failure to thrive |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypertonic dehydration, Hypernatremia, Unexplained fevers, Polydipsia, Failure to thrive |
OMIM:304800 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... |
OMIM:619418 |
Agel Amyloidosis |
|
Edema, Pruritus, Xerostomia, Cutis laxa, Blepharochalasis, Abnormal spleen morphology, Dry skin |
ORPHA:85448 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Intrauterine growth retardation, Hypoglycemia |
ORPHA:48431 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Hypothermia |
OMIM:616501 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Chronic Mucocutaneous Candidiasis |
|
Abnormality of temperature regulation, Skin rash, Pruritus, Erythema, Hepatitis, Skin ulcer, Hype... |
ORPHA:1334 |
Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Dry skin, Hypocholesterolemia |
ORPHA:31150 |
Mitral Valve Prolapse 1 |
|
Striae distensae |
OMIM:157700 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Dehydration, Periportal fibros... |
OMIM:263200 |
Trichodysplasia-Xeroderma Syndrome |
|
Dry skin |
ORPHA:3361 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Hyperkeratosis, Pruritus |
ORPHA:254478 |
Temple Syndrome |
|
Small for gestational age, Obesity, Recurrent hypoglycemia, Type II diabetes mellitus, Polyphagia |
ORPHA:254516 |
Pleural Mesothelioma |
|
Hepatomegaly, Pleural effusion, Dysphagia, Weight loss |
ORPHA:50251 |
Psoriasis 14, Pustular |
|
Fever, Parakeratosis, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive prote... |
OMIM:614204 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Dry skin, Scaling skin, Palmoplantar keratoderma |
OMIM:618373 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
Hypotrichosis 6 |
|
Pruritus, Erythema, Follicular hyperkeratosis |
OMIM:607903 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomega... |
ORPHA:53035 |
Primary Myelofibrosis |
|
Fever, Hepatomegaly, Portal hypertension, Cachexia, Anorexia, Splenomegaly, Low-grade fever, Hepa... |
ORPHA:824 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure... |
ORPHA:199296 |
Acth Deficiency, Isolated |
|
Cholestasis, Decreased circulating cortisol level, Fasting hypoglycemia, Jaundice |
OMIM:201400 |
Flynn-Aird Syndrome |
|
Hyperkeratosis |
OMIM:136300 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Cobblestone-like hyperkeratosis, Palmopl... |
OMIM:602540 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
X-Linked Agammaglobulinemia |
|
Fever, Recurrent cutaneous abscess formation, Skin rash, Hepatitis, Skin ulcer, Weight loss, Hypo... |
ORPHA:47 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Failure to thrive in infancy, Tongue thrusting, Self-injurious behavior, Stereotyp... |
ORPHA:261323 |
Maxillonasal Dysplasia |
|
Striae distensae |
ORPHA:1248 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Small for gestational age, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:619055 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Lymphedema, Hyperkeratosis, Hepatomegaly |
ORPHA:79279 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase con... |
OMIM:608779 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle |
ORPHA:158681 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Death in infancy, Hypoammonemia, Skin ulcer, Dehydration, Hypophosphatemia, Joint s... |
ORPHA:534 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hyperalaninemia, Failure to thrive, Hypoglycemia, Hyperammonemia |
OMIM:614739 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis, Agitation, Self-injurious behavior |
OMIM:618339 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypoinsulinemia, Obesity, Reactive hypoglycemia |
OMIM:600955 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
Acute Myelomonocytic Leukemia |
|
Pallor, Weight loss |
ORPHA:517 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Dehydration, Hyperglycinemia, Failure to th... |
OMIM:251100 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuric... |
OMIM:232200 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:607398 |
Menkes Disease |
|
Hypoglycemia, Hypothermia, Thickened skin, Hyperextensible skin, Prolonged neonatal jaundice, Int... |
ORPHA:565 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Death in infancy, Hypothermia |
ORPHA:168593 |
Cushing Disease |
|
Diabetes mellitus, Acne, Paradoxical increased cortisol secretion on dexamethasone suppression te... |
ORPHA:96253 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Dehydration, Weight loss, Glycosuria, Pancreatic hy... |
ORPHA:99885 |
Pituitary Apoplexy |
|
Fever, Hyponatremia, Hypoglycemia, Increased circulating cortisol level, Pallor |
ORPHA:95613 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Low plas... |
OMIM:261680 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Pedal edema, Lymphedema |
OMIM:615907 |
Peroxisome Biogenesis Disorder 14B |
|
Dry skin |
OMIM:614920 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia,... |
ORPHA:89938 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Hyperalaninemia |
OMIM:266150 |
Bullous Pemphigoid |
|
Diabetes mellitus, Psoriasiform dermatitis, Eczema, Erythema, Weight loss |
ORPHA:703 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Intrauterine growth retardation, Failure to thrive, Dry skin |
OMIM:613026 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Dehydration, Hypokalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:607364 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis |
OMIM:618625 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Hypoglycemia |
OMIM:615962 |
Helix Syndrome |
|
Hypermagnesemia, Xerostomia, Hypokalemia, Polydipsia, Dry skin, Heat intolerance |
OMIM:617671 |
Kaposi Sarcoma |
|
Fever, Skin rash, Lymphedema, Abnormality of the spleen, Weight loss, Abnormality of the liver |
ORPHA:33276 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Abnormal circulating thyroglobulin level, Dry skin, Prolonged neonatal jaundice |
ORPHA:99832 |
Vulvovaginal Gingival Syndrome |
|
Pruritus, Parakeratosis, Erythema |
ORPHA:83453 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Small for gestational age, Hypoglycemia |
ORPHA:231137 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati... |
ORPHA:26791 |
Mednik Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In... |
ORPHA:171851 |
Koolen-De Vries Syndrome |
|
Ichthyosis, Dry skin, Overfriendliness |
ORPHA:96169 |
Nodular Non-Suppurative Panniculitis |
|
Fever, Hepatomegaly, Edema, Splenomegaly, Erythema, Weight loss |
ORPHA:33577 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... |
OMIM:609015 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Death in infancy, Hypoglycemia, Microvesicular hepatic steatosis, ... |
OMIM:611126 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Hypoglycemia, Hypothermia, A... |
ORPHA:17 |
Inflammatory Pseudotumor Of The Liver |
|
Fever, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated... |
ORPHA:90003 |
Polyarteritis Nodosa |
|
Fever, Elevated circulating C-reactive protein concentration, Erythema, Skin ulcer, Weight loss |
ORPHA:767 |
Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Patent ductus arteriosus, Truncal obesity, Attention deficit hyperactivity disorder, Intrauterine... |
ORPHA:2637 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Hyperextensible skin, Petechiae, Striae distensae |
OMIM:225310 |
Alg8-Cdg |
|
Elevated hepatic transaminase, Hyponatremia, Failure to thrive, Small for gestational age, Edema,... |
ORPHA:79325 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysp... |
OMIM:219800 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Hyperkalemia,... |
ORPHA:361 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Xeroderma Pigmentosum |
|
Fever, Failure to thrive, Thickened skin, Erythema, Hyperkeratosis, Dry skin |
ORPHA:910 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Redundant neck skin, Patent ductus arteriosus, Weight loss, Failure to thrive |
ORPHA:1842 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Fever, Weight loss |
ORPHA:100024 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Small for gestational age, Hypoglycemia, Decreased body weight, Intrauterine g... |
ORPHA:391408 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Parakeratosis, Maculopapular exanthema, Skin rash, S... |
ORPHA:398124 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia, Intrauterine growth retardation |
ORPHA:2576 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small for gestational age, Hypoglycemia, Attention deficit hyperactivity disorder, Intrauterine g... |
ORPHA:397590 |
Cystic Fibrosis |
|
Hepatomegaly, Biliary cirrhosis, Dehydration, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Failure... |
OMIM:219700 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:228308 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Hypoglycemia, Hyperammonemia, Dysphagia, Paroxysmal bursts of laughter |
ORPHA:391428 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Hyponatremia, Redundant skin, Polyhydramnios, Edema, Patent ductus... |
ORPHA:79324 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Miscarriage, Acne, Hyperkalemia, Dehydration,... |
ORPHA:90794 |
Takayasu Arteritis |
|
Anorexia, Fever, Skin ulcer, Weight loss |
ORPHA:3287 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Neonatal death, Elevated circulating glutaric a... |
OMIM:231680 |
Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c, Dehydration |
ORPHA:79134 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Fever, Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Jaundice, Hyperkalemia, ... |
ORPHA:90790 |
Immunodeficiency 27A |
|
Fever, Anorexia, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypoalbuminemia |
OMIM:209950 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia |
ORPHA:5 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Jung Syndrome |
|
Dry skin |
ORPHA:2321 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:618120 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Skin rash, Slender build, Attention deficit hyperactivity disorder, Recurrent hand... |
OMIM:617600 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dry skin, Aggressive behavior |
OMIM:619244 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Intrauterine growth retardation, Redundant skin, Cutis laxa, Lack of skin elasticity |
ORPHA:90349 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Skin rash, Hypercalcemia, Anorexia, Ne... |
ORPHA:97280 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Hypothermia, Edema, Prolonged neonatal jaundice |
ORPHA:226316 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulati... |
OMIM:620300 |
Syndromic Diarrhea |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Patent ductus arteriosus, Abnormality of t... |
ORPHA:84064 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Hypoglycemia, Polyhydramnios, Edema, Patent ductus arteriosus, Hypocal... |
OMIM:607143 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Failure to thrive, Heat intolerance |
OMIM:615279 |
Microsporidiosis |
|
Fever, Cholangitis, Cachexia, Anorexia, Abnormality of the spleen, Peritonitis, Biliary tract abn... |
ORPHA:2552 |
Mass Syndrome |
|
Striae distensae |
OMIM:604308 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Increased number of skin folds, Redundant skin, Cutis laxa |
ORPHA:436274 |
Kanzaki Disease |
|
Hyperkeratosis, Dry skin, Petechiae, Lymphedema |
OMIM:609242 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Dehydration, Hypophosphatemia, Hypokalemia, Glycosuria, Polydip... |
ORPHA:411629 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar ke... |
OMIM:242100 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Dehydration, Hypophosp... |
ORPHA:411634 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Noonan Syndrome 14 |
|
Dry skin, Polyhydramnios |
OMIM:619745 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Death in infancy, Elevated circulating creatine kinase con... |
OMIM:201475 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Intrauterine growth retardation, Hypoglycemia, Severe temper tantrums, Aggressive behavior |
OMIM:617710 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... |
OMIM:300918 |
Acute Radiation Syndrome |
|
Fever, Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Scaling skin |
ORPHA:454831 |
Hereditary Central Diabetes Insipidus |
|
Fever, Polydipsia, Weight loss |
ORPHA:30925 |
Majeed Syndrome |
|
Fever, Hepatomegaly, Inflammatory abnormality of the skin, Acne, Cachexia, Edema, Pustule, Spleno... |
ORPHA:77297 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Death in infancy, Perianal erythema, Eczema, R... |
OMIM:308205 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated circulati... |
ORPHA:99901 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma |
OMIM:613576 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Fever, Skin rash, Pustule, Angioedema, Eryt... |
ORPHA:139402 |
Ichthyosis Prematurity Syndrome |
|
Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma |
OMIM:608649 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Dry skin, Polyhydramnios |
ORPHA:1812 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Hypocalcemia, Neonatal hypoglycemia |
OMIM:606407 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... |
OMIM:232220 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Hypothermia, Edema, Prolonged neonatal jaundice, Neona... |
ORPHA:90673 |
Progressive Nodular Histiocytosis |
|
Fever, Cachexia |
ORPHA:158022 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Fever, Polyhydramnios, Anorexia, Hypernatremia, Polydipsia, Failure to... |
ORPHA:223 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Failure to thrive, Death in childhood, Hyperkeratosis, Stillbirth, Hyperbilirub... |
OMIM:210710 |
Maple Syrup Urine Disease |
|
Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevated circulating ... |
OMIM:248600 |
9P13 Microdeletion Syndrome |
|
Dry skin, Attention deficit hyperactivity disorder, Bruxism |
ORPHA:324313 |
Lipoid Proteinosis |
|
Acne, Pustule, Thickened skin, Hyperkeratosis, Dysphagia |
ORPHA:530 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Patent ductus arteriosus, Hyperkalemia, Decreased body weight, Intrau... |
OMIM:617053 |
Oculopharyngodistal Myopathy |
|
Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia, Weight loss |
ORPHA:98897 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fever, Psoriasiform dermatitis, Acne, Skin rash, Edema, Elevated circulating C-reactive protein c... |
ORPHA:324964 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Failure to thrive in infancy, Skin rash, Elevated circulating C-reactive protein co... |
OMIM:612852 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Splenomegaly, Increased... |
ORPHA:465508 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Cerebral edema |
OMIM:201450 |
Ethylene Glycol Poisoning |
|
Hypothermia, Hyperkalemia, Renal tubular epithelial necrosis, Addictive alcohol use, Hypocalcemia... |
ORPHA:31826 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormality of temperature regulation, Weight loss |
ORPHA:42642 |
Immunodeficiency 55 |
|
Recurrent skin infections, Eczema, Ichthyosis, Intrauterine growth retardation, Dry skin |
OMIM:617827 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Dry skin |
OMIM:618797 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Large for gestationa... |
OMIM:280000 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Aggressive behavior, Patent ductus arteriosus, Compulsive ... |
ORPHA:163956 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hypercholesterolem... |
OMIM:610644 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Rapp-Hodgkin Syndrome |
|
Dry skin, Palmoplantar keratoderma |
OMIM:129400 |
D-Glyceric Aciduria |
|
Hypoglycemia, Patent ductus arteriosus, Tongue thrusting, Nonketotic hyperglycinemia, Failure to ... |
OMIM:220120 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Fever, Hypoglycemia, Recurrent fever |
OMIM:201910 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Obesity, Hypothermia |
OMIM:618493 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Ameloonychohypohidrotic Syndrome |
|
Dry skin, Seborrheic dermatitis |
OMIM:104570 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato... |
ORPHA:182 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Eczema, Aggressive behavior, Bruxism, Dry skin |
OMIM:617799 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Hypouricemia, Bicarbonaturia, Dehydration, Weight loss, Hypophosphatemia, Decreased... |
ORPHA:3337 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... |
OMIM:619208 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... |
ORPHA:298 |
Fucosidosis |
|
Hepatomegaly, Splenomegaly, Dry skin, Failure to thrive, Petechiae |
OMIM:230000 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
Dermatomyositis |
|
Fever, Edema, Periorbital edema, Pruritus, Erythema, Skin ulcer, Weight loss, Dry skin |
ORPHA:221 |
Rhabdoid Tumor |
|
Fever, Neoplasm of the liver, Hypercalcemia, Weight loss |
ORPHA:69077 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Fever, Portal hypertension, S... |
ORPHA:131 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Renal Hypoplasia |
|
Polydipsia, Small for gestational age, Dehydration |
ORPHA:93101 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia |
OMIM:616483 |
Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Lack of skin elasticity, Weight loss, Severe failure to thrive, Premature ski... |
ORPHA:740 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr... |
OMIM:614921 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
Oligomeganephronia |
|
Polydipsia, Elevated circulating creatinine concentration, Small for gestational age, Dehydration |
ORPHA:2260 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hepatocellul... |
ORPHA:79259 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Edema, Lymphedema, Thickened skin, Skin ulcer, Scaling skin, Chylothorax, Pleural effusion, Dry s... |
ORPHA:2526 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Acne, Paradoxical increased cortisol secretion on d... |
ORPHA:99889 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:212138 |
Multicentric Reticulohistiocytosis |
|
Fever, Cachexia |
ORPHA:139436 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Death in infanc... |
OMIM:300972 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypoglycem... |
OMIM:276700 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin... |
ORPHA:94086 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin, Sclerodactyly |
ORPHA:1010 |
Recon Progeroid Syndrome |
|
Dry skin, Scaling skin |
OMIM:620370 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dry skin, Skin rash, Cachexia |
ORPHA:220295 |
Blau Syndrome |
|
Fever, Skin rash, Erythema nodosum, Splenomegaly, Erythema, Xerostomia, Skin ulcer, Joint swellin... |
ORPHA:90340 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis |
ORPHA:281090 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Eczema, Ichthyosis, Intrauterine growth retardation, Dry skin |
ORPHA:33364 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hepatomegaly, Hypothermia, Low plasma citrulline, Dysphagia, Hepatic failure, Hyperalanine... |
ORPHA:255210 |
Christianson Syndrome |
|
Death in early adulthood, Cachexia, Inappropriate laughter, Dysphagia, Abnormal repetitive manner... |
ORPHA:85278 |
Subacute Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Hyperkeratosis, Malar rash, Psoriasiform lesion |
ORPHA:163525 |
Alexander Disease |
|
Diabetes mellitus, Hypothermia, Self-injurious behavior, Dysphagia, Failure to thrive |
ORPHA:58 |
Nelson Syndrome |
|
Increased circulating cortisol level, Hypokalemia, Type II diabetes mellitus, Secondary hypercort... |
ORPHA:199244 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... |
OMIM:242300 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss, Acantholysis |
ORPHA:704 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... |
OMIM:148700 |
Aggressive Systemic Mastocytosis |
|
Maculopapular exanthema, Portal hypertension, Anorexia, Hypersplenism, Pruritus, Hepatosplenomega... |
ORPHA:98850 |
Tbck-Related Intellectual Disability Syndrome |
|
Abnormal circulating lipid concentration, Eczema, Hypothermia, Oligohydramnios |
ORPHA:488632 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Intrauterine growth retardation, Recurrent hypoglycemia, Small for gestational age |
OMIM:616817 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Anorexia, Intrahepatic ... |
ORPHA:97283 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Large... |
OMIM:616026 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia |
OMIM:210200 |
Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Neonatal hypoglycemia |
OMIM:618905 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Fever, Eczema, Periorbital wrinkles, Soft skin, Dry skin, Heat intolerance |
OMIM:305100 |
Flynn-Aird Syndrome |
|
Cachexia, Type II diabetes mellitus, Skin ulcer |
ORPHA:2047 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Weight loss |
ORPHA:26790 |
Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
ORPHA:189 |
Silver-Russell Syndrome 1 |
|
Intrauterine growth retardation, Small for gestational age, Fasting hypoglycemia, Hepatocellular ... |
OMIM:180860 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Dehydration, Hypophosphatemia, Hypokalemia, Hypoc... |
ORPHA:31824 |
Eec Syndrome |
|
Hyperkeratosis, Dry skin, Xerostomia |
ORPHA:1896 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Patent ductus arteriosus, Thickened skin, Skin ulc... |
ORPHA:955 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Edema, Spl... |
OMIM:604173 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Hypophosphatemia |
ORPHA:2611 |
Juvenile Huntington Disease |
|
Hyperactivity, Weight loss |
ORPHA:248111 |
Cranioectodermal Dysplasia 3 |
|
Dry skin, Cirrhosis, Cutis laxa |
OMIM:614099 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Fever, Maculopapular exanthema, Anorexia, Pericardia... |
ORPHA:781 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hyperglycerolemia, Chronic pancrea... |
OMIM:307030 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Eczema, Weight loss, Hypocalcemia, Steatorrhea, Type I diabetes me... |
OMIM:212750 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Soft skin, Hyperextensible skin, Striae distensae |
OMIM:606408 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas |
ORPHA:79452 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Intermittent hypothermia, Neonatal hypoglycemia, Increased blood urea nitrogen |
OMIM:223360 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia |
ORPHA:95428 |
Granulomatous Slack Skin |
|
Hypercalcemia, Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Fever, Acantholysis, Erythema, Weight loss,... |
ORPHA:36426 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano... |
ORPHA:100085 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Hypercalcemia, Anorexia, Insulinoma, Dehydration, Weight loss, Increase... |
ORPHA:652 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Pallor, Weight loss |
ORPHA:94080 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti... |
OMIM:231530 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia |
OMIM:248360 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Anorexia, Weight loss, Increased circulating cortisol level, Hepatic failure |
ORPHA:97287 |
Cockayne Syndrome B |
|
Hepatomegaly, Failure to thrive, Small for gestational age, Splenomegaly, Death in childhood, Sev... |
OMIM:133540 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Failure to thrive, Small for gestational age, Slender build, Porta... |
OMIM:613658 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fever, Weight loss, Skin ulcer, Hepatosplenomegaly |
ORPHA:86884 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Fetal ascites, Facial erythema, Scaling skin, Hypocalcemia, Hepatic steatosis, Portal hypertensio... |
OMIM:619503 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Acantholysis, Erythema, Skin ulcer, Weight ... |
ORPHA:537 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypoglycemia, Polyhydramnios, Patent ductus arteriosus, Intrauterine growth retardation, Failure ... |
OMIM:618005 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Patent ductus arteriosus, Dehydration... |
ORPHA:96191 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Hypothermia, Facial edema, Overweight, Prolonged neonatal jaundice, Abnormal circul... |
ORPHA:226307 |
Hallermann-Streiff Syndrome |
|
Hyperactivity, Dry skin, Small for gestational age |
OMIM:234100 |
Dubowitz Syndrome |
|
Intrauterine growth retardation, Dry skin, Eczema, Attention deficit hyperactivity disorder |
ORPHA:235 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Ichthyosis, Scaling skin, Neonatal hypoglycemia, Erythroderma |
ORPHA:35173 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:480864 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:300559 |
Gm1 Gangliosidosis |
|
Splenomegaly, Patent ductus arteriosus, Thickened skin, Hydrops fetalis, Hepatosplenomegaly, Weig... |
ORPHA:354 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Intrauterine growth retardation, Dry skin |
OMIM:613990 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Anorexia, Cachexia, Lymphedema, Splenomegaly |
ORPHA:2930 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Dry skin, Xerostomia, Periorbital wrinkles |
OMIM:614941 |
Acute Promyelocytic Leukemia |
|
Fever, Anorexia, Weight loss, Addictive alcohol use, Ecchymosis, Petechiae, Purpura |
ORPHA:520 |
Focal Myositis |
|
Fever, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Acquired Hypertrichosis Lanuginosa |
|
Ichthyosis, Thickened skin, Acanthosis nigricans, Weight loss |
ORPHA:2221 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Splenomegaly, Dry skin, Failure to thrive, Heat intolerance |
OMIM:612132 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Edema, Pericardial effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hyp... |
ORPHA:90362 |
Autosomal Dominant Hypocalcemia |
|
Eczema, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Dry skin |
ORPHA:428 |
Smith-Kingsmore Syndrome |
|
Hypoglycemia, Large for gestational age |
OMIM:616638 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Anorexia, Elevated circulating al... |
ORPHA:370348 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder, Hepatomega... |
ORPHA:171 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:616355 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Anorexia, Intrahepatic cholestasis, Extrah... |
ORPHA:97278 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Dry skin, Small for gestational age, Scaling skin |
OMIM:618419 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Low plasma citrulline, Hyperammonemia, Cutis laxa, Hypoprolinemia, Hyperextensible skin, Hypoorni... |
OMIM:219150 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Chilblains, Unexplained fevers, Hepatosplenomeg... |
ORPHA:51 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah... |
OMIM:227810 |
Plague |
|
Fever, Hepatomegaly, Chapped lip, Skin rash, Edema, Anorexia, Erythema nodosum, Splenomegaly, Ski... |
ORPHA:707 |
Glutaric Acidemia I |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating glutaric acid concentration |
OMIM:231670 |
Whipple Disease |
|
Fever, Hepatomegaly, Hyponatremia, Cachexia, Anorexia, Splenomegaly, Insulin resistance, Pedal ed... |
ORPHA:3452 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent skin infections, Edema, Abnormal blood ion concentration, Renal tubular epithelial necr... |
ORPHA:79404 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Fever, Elevated circulating C-reactive protein concentration, Atopic dermatitis, Weight loss, Ple... |
ORPHA:2902 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Dysphagia |
OMIM:616029 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Cachexia |
ORPHA:157973 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hep... |
OMIM:232240 |
Deeah Syndrome |
|
Hepatomegaly, Death in infancy, Abnormality of temperature regulation, Polyhydramnios, Dysphagia,... |
OMIM:619004 |
Osteosarcoma |
|
Fever, Joint swelling, Weight loss |
ORPHA:668 |
Leigh Syndrome |
|
Hyperalaninemia, Hypoglycemia, Eczema, Dysphagia, Hepatic failure, Intrauterine growth retardatio... |
ORPHA:506 |
Wiedemann-Rautenstrauch Syndrome |
|
Failure to thrive, Hypertriglyceridemia, Small for gestational age, Dysphagia, Intrauterine growt... |
OMIM:264090 |
Holocarboxylase Synthetase Deficiency |
|
Eczema, Anorexia, Hyperammonemia, Weight loss, Perioral eczema |
ORPHA:79242 |
Shashi-Pena Syndrome |
|
Intrauterine growth retardation, Patent ductus arteriosus, Hypoglycemia |
OMIM:617190 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Hypoglycemia, Seborrheic dermatitis, Hyperammonemia, Hyperleucinemia, Failu... |
OMIM:210210 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Increased circulating cortisol level, Pancreatic islet cell adenoma, Weight loss |
ORPHA:97289 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss, As... |
ORPHA:83469 |
Histiocytoid Cardiomyopathy |
|
Fever, Hepatomegaly, Hypoglycemia, Pallor, Failure to thrive, Pulmonary edema |
ORPHA:137675 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Fever, Weight loss |
ORPHA:411703 |
Tooth Agenesis, Selective, 4 |
|
Dry skin, Palmar hyperkeratosis |
OMIM:150400 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Redundant skin, Cachexia, Abnormal circulating creatine concentration, Self-mutila... |
ORPHA:52503 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Peritonitis, Elevated circulating creatinine concentration, Dehydration, Hypokalemi... |
ORPHA:90038 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia, Dysphagia |
ORPHA:363717 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Dry skin |
OMIM:619306 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Skin rash, Xerostomia, Weight loss, Recurrent fever |
OMIM:617321 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:602400 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ascites, Pedal edema, Weight loss |
ORPHA:168811 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... |
OMIM:616878 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Distal Renal Tubular Acidosis |
|
Polydipsia, Failure to thrive, Hypokalemia, Dehydration |
ORPHA:18 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Epidermal hyperkeratosis, Dermal transluc... |
OMIM:137940 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Intrauterine growth retardation, Hypoglycemia, Death in infancy |
OMIM:620275 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Jaundice, Low plasma citrulline, Hyperammonemia, Hyperprolinemia... |
OMIM:615751 |
Fabry Disease |
|
Fever, Anorexia, Lymphedema, Hyperlipidemia, Hyperkeratosis, Abnormal circulating lipid concentra... |
ORPHA:324 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Death in infancy, Intrauterine growth retardation |
ORPHA:163966 |
Ménétrier Disease |
|
Anorexia, Weight loss, Peripheral edema, Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Dry skin |
OMIM:614008 |
Sotos Syndrome |
|
Aggressive behavior, Patent ductus arteriosus, Increased body weight, Glucose intolerance, Attent... |
OMIM:117550 |
Riboflavin Transporter Deficiency |
|
Dysphagia, Cachexia, Aggressive behavior |
ORPHA:97229 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:66661 |
Erdheim-Chester Disease |
|
Fever, Polydipsia, Skin rash, Retroperitoneal fibrosis, Weight loss, Xanthelasma, Joint swelling,... |
ORPHA:35687 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
Cryptogenic Organizing Pneumonia |
|
Fever, Elevated circulating C-reactive protein concentration, Anorexia, Weight loss |
ORPHA:1302 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Fever, Hepatomegaly, Hypoglycemia |
OMIM:229700 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Poems Syndrome |
|
Diabetes mellitus, Edema, Pericardial effusion, Thickened skin, Abnormality of skin physiology, W... |
ORPHA:2905 |
Short Syndrome |
|
Excessive wrinkled skin, Insulin resistance, Diabetes mellitus, Weight loss |
ORPHA:3163 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Weight loss, Hypophosphatemi... |
ORPHA:398063 |
Polymyositis |
|
Fever, Hepatomegaly, Elevated circulating creatine kinase concentration, Anorexia, Weight loss |
ORPHA:732 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Anorexia, Intrahepatic cholestasis, Extrah... |
ORPHA:97261 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Allergic Bronchopulmonary Aspergillosis |
|
Low-grade fever, Weight loss |
ORPHA:1164 |
Rheumatoid Arthritis |
|
Fever, Joint swelling, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Proximal Renal Tubular Acidosis |
|
Bicarbonaturia, Dehydration, Hypokalemia, Glycosuria, Polydipsia, Failure to thrive |
ORPHA:47159 |
Sialidosis Type 1 |
|
Splenomegaly, Hyperkeratosis |
ORPHA:812 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recurrent hypoglycemia, Intr... |
ORPHA:813 |
Cockayne Syndrome A |
|
Hepatomegaly, Splenomegaly, Dry skin, Intrauterine growth retardation, Failure to thrive |
OMIM:216400 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
Adult Syndrome |
|
Dry skin, Eczema |
OMIM:103285 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Intrauterine growth reta... |
ORPHA:2609 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Pedal edema, Weight loss, Pleural effusion, Pulmonary edema |
ORPHA:330001 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Aggressive behavior, Obesity, Hepatosplenomegaly, Cholecystitis, Acan... |
OMIM:301066 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hyperbilirubinemia, Dry skin, Increased circulating thyroglobulin level, Hypothermia |
OMIM:218700 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Malignant hyperthermia, Hyperph... |
ORPHA:466650 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Fever, Liver abscess, Elevated circulating C-reactive protein conc... |
ORPHA:54251 |
Huntington Disease-Like 1 |
|
Restlessness, Weight loss |
ORPHA:157941 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal repetitive mannerisms, Hypoglycemia, Abnormal temper tantrums, Aggressive behavior |
ORPHA:457279 |
Noonan Syndrome 10 |
|
Patent ductus arteriosus, Increased nuchal translucency, Hyperkeratosis, Hyperextensible skin, Pa... |
OMIM:616564 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Hyperactivity, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Hyperextensible... |
OMIM:607721 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Dry skin |
OMIM:614940 |
Pancreatic And Cerebellar Agenesis |
|
Death in infancy, Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Pancre... |
OMIM:609069 |
Eosinophilic Fasciitis |
|
Muscular edema, Edema, Weight loss |
ORPHA:3165 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Dry skin, Eczema |
ORPHA:508542 |
Giant Cell Arteritis |
|
Fever, Anorexia, Skin ulcer, Weight loss, Hepatic failure |
ORPHA:397 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hyperkeratosis, Skin ulcer |
ORPHA:1806 |
Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema, Fever, Anorexia, Weight loss |
ORPHA:514 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Insulinoma, Increased circulating cor... |
OMIM:131100 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Fever, Skin rash, Hypoglycemia, Jaundice, Hepatitis, Hepatic necro... |
ORPHA:90062 |
Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Type II diabetes mellitus, Type I diabetes mellitus, Intrau... |
ORPHA:1133 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Elevated circulating glutaric acid concentration, Microvesicular h... |
ORPHA:66634 |
Bone Marrow Failure Syndrome 3 |
|
Hyperactivity, Eczema, Pancreatic steatosis, Hyperkeratosis, Hyperechogenic pancreas, Intrauterin... |
OMIM:617052 |
Thymic Carcinoma |
|
Palpebral edema, Edema, Weight loss |
ORPHA:99868 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Unexplained fevers, Impulsivity, Hypothermia, Dysphagia, Dry skin, Se... |
ORPHA:642 |
Noonan Syndrome 2 |
|
Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosus, Hyperkeratosis, Hyperext... |
OMIM:605275 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Cachexia, Polyhydramnios |
OMIM:618186 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Temperature instability, Hypothermia, Dysphagia |
ORPHA:99027 |
Alveolar Echinococcosis |
|
Fever, Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morp... |
ORPHA:284 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
ORPHA:85450 |
Adult Syndrome |
|
Dry skin, Skin ulcer |
ORPHA:978 |
Barber-Say Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency |
OMIM:209885 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Follicular hyperkeratosis |
OMIM:613102 |
Loeys-Dietz Syndrome 4 |
|
Hyperextensible skin, Striae distensae |
OMIM:614816 |
Renpenning Syndrome |
|
Diabetes mellitus, Cachexia |
ORPHA:3242 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Fever, Liver abscess, Weight loss, Pleural empyema, Hypoalbuminemi... |
ORPHA:67 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Erythema nodosum, Xerostomia, Biliary cirrhosis, Skin ulcer, Chronic he... |
ORPHA:289390 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Failure to thrive, Slender build, Mildly elevated creatine kinase, Follicular hyperkeratosis |
OMIM:254090 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hyperactivity, Neonatal hypoglycemia, Large for gestational age |
ORPHA:457485 |
Sarcoidosis |
|
Fever, Hepatomegaly, Maculopapular exanthema, Hypercalcemia, Portal hypertension, Hypothermia, Er... |
ORPHA:797 |
Occipital Horn Syndrome |
|
Hypothermia, Jaundice, Hepatitis, Cholestasis, Hyperextensible skin, Dysphagia |
ORPHA:198 |
Isolated Succinate-Coq Reductase Deficiency |
|
Intrauterine growth retardation, Weight loss |
ORPHA:3208 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Psoriasiform dermatitis, Hyperkalemia, Recurr... |
ORPHA:293978 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia |
ORPHA:436174 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Palpebral edema, Skin rash, Anorexia, Elevated circu... |
ORPHA:50918 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Temperature instability, Tongue thrusting, Intermittent hypothermia |
OMIM:608643 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Hypoglycemia |
OMIM:615577 |
Rat-Bite Fever |
|
Fever, Maculopapular exanthema, Skin rash, Erythema nodosum, Pustule, Weight loss, Scaling skin, ... |
ORPHA:31205 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hyperkeratosis |
ORPHA:1883 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Fever, Skin rash, Weight loss, Dysphagia, Purpura |
ORPHA:183 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Macs Syndrome |
|
Palpebral edema, Redundant skin, Cutis laxa, Ichthyosis, Hyperextensible skin, Decreased body wei... |
OMIM:613075 |
Igg4-Related Retroperitoneal Fibrosis |
|
Fever, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Anorexia, Eleva... |
ORPHA:49041 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Intrauterine growth retardation, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Fever, Hepatomegaly, Pruritus, Splenomegaly, Weight loss, Pallor |
ORPHA:98849 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic steatosis, Chronic hepat... |
ORPHA:746 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Xerostomia, Weight loss, Abnormality... |
ORPHA:85443 |
Scalp-Ear-Nipple Syndrome |
|
Thickened skin, Dry skin, Palpebral edema |
OMIM:181270 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Death in infancy, Hypoglycemia, Splenomegaly, Hepatic failure, Hyperalaninemia, Fai... |
OMIM:252010 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Pancreatic cysts, Abnormality of the pancreas, Dry skin, Exocrine ... |
ORPHA:2750 |
Pachyonychia Congenita |
|
Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Follicular h... |
ORPHA:2309 |
Basilicata-Akhtar Syndrome |
|
Neonatal hypoglycemia |
OMIM:301032 |
Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Splenomegaly, Tongue thrusting, Atopic dermatitis, Hyperkeratosis, Ichthyosis, Fa... |
OMIM:115150 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia, Increased circulating cortisol level, Acne, Hypoglycemia |
ORPHA:786 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia |
ORPHA:95619 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Aicardi-Goutieres Syndrome 7 |
|
Fever, Hepatomegaly, Skin rash, Chilblains, Edema, Pericardial effusion, Splenomegaly, Increased ... |
OMIM:615846 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Nephroblastoma |
|
Fever, Neoplasm of the liver, Weight loss |
ORPHA:654 |
Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Pituitary Stalk Interruption Syndrome |
|
Death in infancy, Failure to thrive, Hypoglycemia |
ORPHA:95496 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hypoglycemia, Cachexia, Lymphedema |
ORPHA:109 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia, Jaundice, Erythema, Extrahepatic cholestasis, Weight loss, Increased circulating c... |
ORPHA:913 |
Systemic Capillary Leak Syndrome |
|
Pedal edema, Weight loss, Pleural effusion, Pancreatitis, Pulmonary edema |
ORPHA:188 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia |
ORPHA:453533 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, C... |
ORPHA:100086 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Recurrent skin infections, Hypoglycemia, Prolonged neonatal jaundice, Acne inversa |
OMIM:233600 |
Brucellosis |
|
Fever, Hepatomegaly, Liver abscess, Small for gestational age, Miscarriage, Anorexia, Elevated ci... |
ORPHA:1304 |
Bartsocas-Papas Syndrome 1 |
|
Intrauterine growth retardation, Dry skin |
OMIM:263650 |
Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Jaundice, ... |
ORPHA:1333 |
Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
Fucosidosis |
|
Hepatomegaly, Failure to thrive, Abnormality of the gallbladder, Generalized hyperkeratosis |
ORPHA:349 |
Perlman Syndrome |
|
Hypoglycemia, Polyhydramnios, Edema, Large for gestational age, Pancreatic islet-cell hyperplasia... |
OMIM:267000 |
Lymphoid Interstitial Pneumonia |
|
Fever, Hepatomegaly, Skin rash, Eczema, Weight loss, Failure to thrive |
ORPHA:79128 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Reactive Arthritis |
|
Fever, Pustule, Weight loss, Hyperkeratosis, Joint swelling |
ORPHA:29207 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Intrauterine growth retardation, Self-injurious behavior, Cachexia |
ORPHA:371364 |
Oculodentodigital Dysplasia |
|
Palmoplantar keratoderma, Hypoglycemia |
ORPHA:2710 |
Pneumocystosis |
|
Fever, Chronic oral candidiasis, Pleural effusion, Weight loss |
ORPHA:723 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Ichthyosis, Hyperkeratosis, Intrauterine growth retardation |
ORPHA:1005 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Psoriasiform dermatitis, Fai... |
ORPHA:37042 |
Ablepharon Macrostomia Syndrome |
|
Excessive wrinkled skin, Dry skin, Redundant skin |
ORPHA:920 |
Atopic Keratoconjunctivitis |
|
Dry skin |
ORPHA:163934 |
Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Polyhydramnios, Patent ductus arteriosus, Cutis laxa, Hyperextensible skin, Follicular hyperkerat... |
OMIM:614557 |
Noonan Syndrome 1 |
|
Failure to thrive in infancy, Lymphedema, Patent ductus arteriosus, Chylothorax, Dry skin |
OMIM:163950 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Edema, Weight loss, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Insulin resistance, Severe intrauterine growth retardation, Fasting hy... |
ORPHA:96182 |
Idiopathic Bronchiectasis |
|
Fever, Cachexia |
ORPHA:60033 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Attention deficit hyperactivity disorder, Dysphagia, Weight loss |
ORPHA:216866 |
Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Hypocalcemia, Cachexia |
ORPHA:1438 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Klatskin Tumor |
|
Fever, Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphat... |
OMIM:229600 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Weight loss, Acral ulceration, Unexplained fevers, Purpura |
ORPHA:91139 |
Fatal Familial Insomnia |
|
Fever, Dysphagia, Weight loss |
OMIM:600072 |
Diffuse Alveolar Hemorrhage |
|
Fever, Elevated circulating creatinine concentration, Weight loss |
ORPHA:90060 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Follicular hyperkeratosis |
ORPHA:1809 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Intrauterine growth retardation, Dysphagia, Neonatal hypoglycemia, Aggressive behavior |
ORPHA:572798 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anorexia, Xerostomia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:615225 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hypoglycemia, Redundant skin, Polyhydramnios, Large for gestational age, Elevated c... |
ORPHA:116 |
Igg4-Related Aortitis |
|
Fever, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:449400 |
Medullary Thyroid Carcinoma |
|
Weight loss, Dysphagia, Abnormal liver parenchyma morphology |
ORPHA:1332 |
Premature Aging Syndrome, Penttinen Type |
|
Thickened skin, Palmoplantar hyperkeratosis, Corneal stromal edema, Hyperkeratosis, Failure to th... |
OMIM:601812 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Intrauterine growth retardation, Neonatal hypoglycemia |
ORPHA:565624 |
Incontinentia Pigmenti |
|
Skin rash, Erythema, Skin ulcer, Hyperkeratosis, Attention deficit hyperactivity disorder |
ORPHA:464 |
Postinfectious Vasculitis |
|
Fever, Viral hepatitis, Inflammatory abnormality of the skin, Palpable purpura, Abnormal circulat... |
ORPHA:48435 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Pallor, Weight loss |
ORPHA:276621 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Polyhydramnios |
ORPHA:2774 |
Immunodeficiency 31C |
|
Fever, Hepatomegaly, Diabetes mellitus, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, ... |
OMIM:614162 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Neonatal hypoglycemia |
ORPHA:445038 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c |
OMIM:616113 |
Fibromuscular Dysplasia, Multifocal |
|
Striae distensae, Hyperextensible skin, Soft, doughy skin, Soft skin, Dermal translucency |
OMIM:619329 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Small for gestational age, Hypoglycemia, Microvesicular hepatic steatosis, Dysp... |
OMIM:220111 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Fever, Weight loss |
ORPHA:79127 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Patent ductus arteriosus, Jaundice, Dysphagia, Neonatal death, Failure to thriv... |
OMIM:617248 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Weight loss, Hepatosplenomegaly, Hyperbilirubinemia,... |
OMIM:613673 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Death in infancy, Pancreatic adenocarcinoma, Death in early adulthood, ... |
ORPHA:144 |
Limb-Mammary Syndrome |
|
Dry skin, Psoriasiform dermatitis |
ORPHA:69085 |
Bethlem Myopathy |
|
Hyperkeratosis, Elevated circulating creatine kinase concentration |
ORPHA:610 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Obesity, Weight loss, Attention deficit hyperactivity disorder, Intraut... |
ORPHA:251071 |
Perry Syndrome |
|
Inappropriate behavior, Disinhibition, Weight loss |
OMIM:168605 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Failure to thrive in infancy |
OMIM:301220 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypothermia, Decreased serum iron, Patent ductus arteriosus, Dysphagia, Soft skin, Stereotypical ... |
ORPHA:438213 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Weight loss |
ORPHA:142 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Hermansky-Pudlak Syndrome |
|
Hyperkeratosis, Thickened skin, Anorexia, Weight loss |
ORPHA:79430 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Hypoglycemia |
OMIM:620224 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia, Hypoglycemia, Neonatal hypoglycemia |
OMIM:613986 |
Naxos Disease |
|
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:601214 |
Cerebral Visual Impairment |
|
Attention deficit hyperactivity disorder, Neonatal hypoglycemia |
ORPHA:447788 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Kabuki Syndrome 2 |
|
Intrauterine growth retardation, Neonatal hypoglycemia, Decreased body weight |
OMIM:300867 |
Incontinentia Pigmenti |
|
Hyperkeratosis, Erythema, Maculopapular exanthema, Pallor |
OMIM:308300 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss |
ORPHA:100080 |
Costello Syndrome |
|
Redundant neck skin, Hypoglycemia, Polyhydramnios, Acanthosis nigricans, Failure to thrive |
OMIM:218040 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Steatorrhea |
ORPHA:3217 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Anorexia, Thickened skin, Erythema, Xerostomia, Skin ulcer, Weight... |
ORPHA:99921 |
Oromandibular Dystonia |
|
Bruxism, Dysphagia, Weight loss |
ORPHA:93958 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Holoprosencephaly |
|
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Abnormality of the s... |
ORPHA:2162 |
Granulomatosis With Polyangiitis |
|
Fever, Skin rash, Elevated circulating C-reactive protein concentration, Periorbital edema, Skin ... |
ORPHA:900 |
Alzahrani-Kuwahara Syndrome |
|
Self-mutilation, Dry skin, Eczema |
OMIM:619268 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Pallor, Weight loss |
ORPHA:35858 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Scaling skin, Follicu... |
ORPHA:158668 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hypoglycemia |
OMIM:616007 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Death in early adulthood, Elevated circulating deoxyuridine concentration, Cachexia, Weight loss,... |
OMIM:603041 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Neonatal hypoglycemia, Hypoglycemic seizures |
OMIM:262600 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Hyperkeratosis, Recurrent bacterial skin infections, Ichthyosis |
OMIM:148210 |
Riddle Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Erythema, Weight loss, Scaling skin, Recurr... |
ORPHA:420741 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:1933 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,... |
ORPHA:440437 |
Felty Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:47612 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss |
ORPHA:100082 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Pruritus, Weight loss |
ORPHA:729 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Cachexia, Aggressive behavior, Obesity, Acanthosis nigricans |
ORPHA:85293 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, ... |
ORPHA:469 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
Thymoma |
|
Fever, Scleroderma, Weight loss |
ORPHA:99867 |
Marfan Syndrome |
|
Cachexia, Attention deficit hyperactivity disorder, Slender build, Striae distensae |
ORPHA:558 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Death in infancy, Hypoglycemia, Polyhydramnios, Splenomegaly, Pancreatic islet-cell... |
ORPHA:373 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Pallor, Weight loss |
ORPHA:29072 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Hypoglycemia |
OMIM:614501 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis |
ORPHA:2583 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Neonatal hypoglycemi... |
OMIM:261740 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
Ablepharon-Macrostomia Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin |
OMIM:200110 |
Neuroblastoma, Susceptibility To, 1 |
|
Fever, Failure to thrive, Weight loss |
OMIM:256700 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Granulomatosis With Polyangiitis |
|
Fever, Skin ulcer, Weight loss |
OMIM:608710 |
Lymphatic Filariasis |
|
Fever, Hyperkeratosis, Predominantly lower limb lymphedema, Lymphedema |
ORPHA:2035 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dysphagia |
ORPHA:2908 |
Chand Syndrome |
|
Dry skin |
ORPHA:1401 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
Infantile Krabbe Disease |
|
Temperature instability, Failure to thrive, Cachexia, Unexplained fevers |
ORPHA:206436 |
Loeys-Dietz Syndrome 6 |
|
Striae distensae |
OMIM:619656 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
Chime Syndrome |
|
Hyperkeratosis, Erythema, Skin ulcer, Ichthyosis |
ORPHA:3474 |
African Trypanosomiasis |
|
Hepatomegaly, Miscarriage, Aggressive behavior, Pruritus, Splenomegaly, Jaundice, Hepatosplenomeg... |
ORPHA:3385 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia, Dysphagia |
ORPHA:25 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
Restrictive Dermopathy 1 |
|
Polyhydramnios, Epidermal hyperkeratosis, Patent ductus arteriosus, Stillbirth, Scaling skin, Neo... |
OMIM:275210 |
Carney Complex |
|
Neoplasm of the pancreas, Increased body weight, Increased circulating cortisol level, Abdominal ... |
ORPHA:1359 |
Pulmonary Alveolar Microlithiasis |
|
Fever, Hepatomegaly, Abnormal circulating calcium concentration, Weight loss, Peripheral edema, I... |
ORPHA:60025 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Redundant skin in infancy, Dry skin, Cutis laxa |
OMIM:150230 |
Immunodeficiency 82 With Systemic Inflammation |
|
Skin rash, Recurrent skin infections, Anorexia, Elevated circulating C-reactive protein concentra... |
OMIM:619381 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating cortisol level, Small for gestational age, Hypoglycemia, Hype... |
OMIM:201750 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperamm... |
OMIM:222700 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, Dysphagia |
OMIM:615510 |
Castleman Disease |
|
Jaundice, Anasarca, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:160 |
Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:620305 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Excessive wrinkled skin, Hyperextensible skin, Follicular hyperkeratosis, Palmoplantar cutis laxa... |
OMIM:225400 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Striae distensae |
OMIM:617168 |
Familial Thrombocytosis |
|
Pruritus, Splenomegaly, Miscarriage, Weight loss |
ORPHA:71493 |
Choreoacanthocytosis |
|
Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Ele... |
ORPHA:2388 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Classical Ehlers-Danlos Syndrome |
|
Joint swelling, Blepharochalasis, Hyperextensible skin, Soft, doughy skin, Ecchymosis, Striae dis... |
ORPHA:287 |
Leprosy |
|
Abnormality of the spleen, Penetrating foot ulcers, Hyperkeratosis, Abnormality of the liver, Acr... |
ORPHA:548 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Hepatic failure |
ORPHA:100075 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Fever, Abnormal circulating protein concentration, Weight loss |
ORPHA:747 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Peritonitis, Weight loss |
ORPHA:679 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Parakeratosis, Failure to thrive, Superficial dermal perivascular inflammatory infi... |
ORPHA:83617 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Small for gestational age, Eczema, Hyperkeratosis, Inappropriate laughter, Attention deficit hype... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Small for gestational age, Eczema, Hyperkeratosis, Inappropriate laughter, Attention deficit hype... |
ORPHA:363958 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia, Dysphagia |
ORPHA:300605 |
Rett Syndrome |
|
Stereotypical hand wringing, Cachexia, Bruxism |
OMIM:312750 |
Mucolipidosis Type Ii |
|
Splenomegaly, Thickened skin, Weight loss, Hepatosplenomegaly, Oligohydramnios |
ORPHA:576 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormality of temperature regulation, Eczema, Erythema, Hyperkeratosis, Ichthyosis, Failure to t... |
ORPHA:2273 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro... |
ORPHA:29073 |
Nocardiosis |
|
Fever, Liver abscess, Anorexia, Peritonitis, Weight loss, Pleural effusion, Cutaneous abscess |
ORPHA:31204 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Elevated circulating creatine kinase concentration, Cachexia, Polyhydramnios, M... |
ORPHA:800 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Oligohydramnios, Redundant skin, Cutis laxa |
OMIM:219100 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Joint swelling, Weight loss, Low-grade fever, Hepatosplenomegaly |
ORPHA:85408 |
Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Agitation, Dysphagia, Weight loss |
ORPHA:411602 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Edema, Extrahepatic cholestasis, Weight loss, Hepatic failure |
ORPHA:100078 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... |
OMIM:615726 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Mildly elevated creatine kinase, Dysphagia, Weight loss |
OMIM:607459 |
Behçet Disease |
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Fever, Acne, Anorexia, Splenomegaly, Weight loss, Pleural effusion, Pancreatitis |
ORPHA:117 |
Glossopharyngeal Neuralgia |
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Oral-pharyngeal dysphagia, Weight loss |
ORPHA:221098 |
Sarcoidosis, Susceptibility To, 1 |
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Fever, Hepatomegaly, Anorexia, Pericardial effusion, Splenomegaly, Weight loss, Pleural effusion |
OMIM:181000 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Cachexia, Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenomegaly, Hyperextensibl... |
ORPHA:2072 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Fever, Skin rash, Elevated circulating C-reactive protein concentration, Perianal abscess, Weight... |
OMIM:301074 |
Renal Agenesis, Bilateral |
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Nonketotic hypoglycemia, Oligohydramnios |
ORPHA:1848 |
Restrictive Dermopathy |
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Polyhydramnios, Epidermal hyperkeratosis, Patent ductus arteriosus, Scaling skin, Intrauterine gr... |
ORPHA:1662 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Hyperkeratosis, Lymphedema |
ORPHA:79280 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Agitation, Small for gestational age, Weight loss |
ORPHA:424 |
Gerstmann-Straussler Disease |
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Aggressive behavior, Weight loss |
OMIM:137440 |
Tsh-Secreting Pituitary Adenoma |
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Pericardial effusion, Hypokalemia, Pallor, Weight loss |
ORPHA:91347 |
Loeys-Dietz Syndrome 2 |
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Soft skin, Patent ductus arteriosus, Striae distensae, Dermal translucency |
OMIM:610168 |
Marfan Syndrome |
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Striae distensae |
OMIM:154700 |
Parathyroid Carcinoma |
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Pancreatic adenocarcinoma, Hypercalcemia, Weight loss, Hypophosphatemia, Dysphagia, Polydipsia, P... |
ORPHA:143 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Intrauterine growth retardation, Failure to thrive, Dry skin |
ORPHA:99646 |
Mucoepithelial Dysplasia, Hereditary |
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Chronic mucocutaneous candidiasis, Follicular hyperkeratosis |
OMIM:158310 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Fever, Skin rash, Anorexia, Elevated circulating C-reactive protein concentration, Elevated circu... |
ORPHA:91500 |
Igg4-Related Kidney Disease |
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Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Retr... |
ORPHA:449395 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Failure to thrive, Dysphagia, Weight loss |
ORPHA:1018 |
Fanconi Anemia |
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Patent ductus arteriosus, Weight loss, Abnormality of the liver, Intrauterine growth retardation,... |
ORPHA:84 |
Congenital Fiber-Type Disproportion Myopathy |
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Failure to thrive, Dysphagia, Polyhydramnios, Weight loss |
ORPHA:2020 |
Meester-Loeys Syndrome |
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Striae distensae |
OMIM:300989 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
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Hyperkeratosis |
OMIM:620189 |
Cockayne Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cachexia, Splenomegaly, Hyperuric... |
ORPHA:191 |
Trisomy 18 |
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Intrauterine growth retardation, Cachexia, Oligohydramnios |
ORPHA:3380 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Agitation, Weight loss |
ORPHA:99819 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Fever, Palpebral edema, Retroperitoneal fibrosis, Facial edema, Xerostomia, Weight loss |
ORPHA:79078 |
Warburg-Cinotti Syndrome |
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Joint swelling, Erythema, Follicular hyperkeratosis |
OMIM:618175 |
6Q Terminal Deletion Syndrome |
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Hyperkeratosis, Failure to thrive, Obesity |
ORPHA:75857 |
Pyomyositis |
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Fever, Recurrent cutaneous abscess formation, Weight loss |
ORPHA:764 |
Pancreatoblastoma |
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Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
Parkinson Disease 4, Autosomal Dominant |
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Weight loss |
OMIM:605543 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Slender build, Neonatal hypoglycemia, Large for gestational age |
ORPHA:457359 |
Loeys-Dietz Syndrome |
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Patent ductus arteriosus, Striae distensae |
ORPHA:60030 |
Carney-Stratakis Syndrome |
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Dysphagia, Weight loss |
ORPHA:97286 |
Oculogastrointestinal Muscular Dystrophy |
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Cachexia |
ORPHA:1876 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
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Impulsivity, Aggressive behavior, Thickened skin, Epidermal thickening, Orthokeratotic hyperkerat... |
ORPHA:73223 |
Oculopharyngodistal Myopathy 1 |
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Elevated circulating creatine kinase concentration, Dysphagia, Weight loss |
OMIM:164310 |
Loeys-Dietz Syndrome 3 |
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Soft skin, Patent ductus arteriosus, Striae distensae, Dermal translucency |
OMIM:613795 |
Aneurysm-Osteoarthritis Syndrome |
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Patent ductus arteriosus, Striae distensae |
ORPHA:284984 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Soft, doughy skin, Hyperextensible skin, Follicular hyperkeratosis |
ORPHA:536545 |
Fryns-Smeets-Thiry Syndrome |
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Cachexia |
ORPHA:2058 |
Ramon Syndrome |
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Hyperkeratosis, Decreased body weight |
OMIM:266270 |
De Sanctis-Cacchione Syndrome |
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Parakeratosis |
OMIM:278800 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Hyperkeratosis, Xerostomia |
OMIM:604292 |
Tropical Endomyocardial Fibrosis |
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Fever, Hepatomegaly, Cachexia, Splenomegaly, Pedal edema, Peripheral edema, Hypoalbuminemia, Ascites |
ORPHA:75565 |
Goodpasture Syndrome |
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Fever, Increased blood urea nitrogen, Pallor, Weight loss |
OMIM:233450 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Hyperkeratosis, Xerostomia |
OMIM:129900 |
Chondrodysplasia Punctata, Autosomal Dominant |
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Hyperkeratosis with erythema |
OMIM:118650 |
Cowden Syndrome |
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Failure to thrive, Palmoplantar keratoderma, Generalized hyperkeratosis |
ORPHA:201 |
Malt Lymphoma |
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Fever, Weight loss |
ORPHA:52417 |
Proteus Syndrome |
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Cachexia, Lymphedema, Splenomegaly, Thickened skin, Generalized hyperkeratosis |
ORPHA:744 |
Camurati-Engelmann Disease |
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Hepatomegaly, Cachexia, Anorexia, Splenomegaly, Slender build |
ORPHA:1328 |
Seckel Syndrome |
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Intrauterine growth retardation, Cachexia |
ORPHA:808 |
Sotos Syndrome |
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Hypercalcemia, Aggressive behavior, Patent ductus arteriosus, Pedal edema, Attention deficit hype... |
ORPHA:821 |
Juvenile Polyposis Of Infancy |
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Patent ductus arteriosus, Hypoalbuminemia, Cachexia |
ORPHA:79076 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Cachexia, Anorexia |
ORPHA:1969 |
Renal Nutcracker Syndrome |
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Weight loss |
ORPHA:71273 |
Beckwith-Wiedemann Syndrome |
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Hepatoblastoma, Hepatomegaly, Pancreatic hyperplasia, Neonatal hypoglycemia |
OMIM:130650 |
Nijmegen Breakage Syndrome |
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Attention deficit hyperactivity disorder, Cachexia |
ORPHA:647 |
Non-Acquired Panhypopituitarism |
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Hypoglycemia |
ORPHA:90695 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Hypoglycemia |
ORPHA:95494 |
Norrie Disease |
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Diabetes mellitus, Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, F... |
ORPHA:649 |
Holoprosencephaly 1 |
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Hypoglycemia |
OMIM:236100 |
Stickler Syndrome |
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Slender build, Cachexia |
ORPHA:828 |