| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Paresthesia, Hypocalcemia |
OMIM:615361 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Paresthesia, Hypocalcemia, Hypocalcem... |
ORPHA:94090 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity |
OMIM:620448 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertr... |
OMIM:612526 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-comp... |
ORPHA:66624 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability |
OMIM:146200 |
| Alpha-Heavy Chain Disease |
|
Anemia, Splenomegaly, Hypocalcemia |
ORPHA:100025 |
| Autoimmune Hypoparathyroidism |
|
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Paresthesia, Hypocalcemia... |
ORPHA:36913 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| 2P21 Microdeletion Syndrome |
|
Hypocalcemia, Hypoglycemia |
ORPHA:163693 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Irritability, Hypoglycemia, Ataxia |
OMIM:240800 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Hyperprolinemia, Type I |
|
Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy |
OMIM:239500 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Refractory Celiac Disease |
|
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... |
ORPHA:398063 |
| Hartnup Disorder |
|
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia |
OMIM:234500 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Paresthesia, Hypocalcemia, Hypokalemia, Anorexia, Anemia |
OMIM:175500 |
| Pseudohypoparathyroidism Type 1B |
|
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Paresthesia, Hypocalcemia... |
ORPHA:94089 |
| Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hypocalcemia |
ORPHA:172 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Paresthesia, Hypocalcemia, Hypokalemia, Increased circulating ... |
OMIM:601198 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:620270 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Glycine Encephalopathy 1 |
|
Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Neonatal hypoglycemia, Hypocalcemia |
OMIM:606407 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia |
OMIM:617113 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit h... |
ORPHA:35878 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Dystonia |
OMIM:301107 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Hyperactivity, Hypertriglyceridemia, Dystonia |
OMIM:615924 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch... |
OMIM:620211 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Chorea, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis |
ORPHA:382 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Iron deficiency anemia, Hypocalcemia |
ORPHA:89937 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia |
ORPHA:94086 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Tremor |
OMIM:619470 |
| Neuroleptic Malignant Syndrome |
|
Oculogyric crisis, Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Chorea, Leukocytosis, Hypoca... |
ORPHA:94093 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:618618 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Resting tremor, Tremor, Irritability, Aggressive behavior, Hypera... |
ORPHA:3077 |
| Albers-Schönberg Osteopetrosis |
|
Anemia, Hypocalcemia, Abnormal leukocyte morphology |
ORPHA:53 |
| Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Depression, Thrombocytosis, Hypocalcemia, Macrocytic anemia, Iron defic... |
OMIM:212750 |
| Phenylketonuria |
|
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... |
OMIM:261600 |
| Juvenile Huntington Disease |
|
Depression, Chorea, Gait ataxia, Irritability, Hyperactivity, Ataxia, Dystonia, Progressive cereb... |
ORPHA:248111 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Irritability, Thrombocytopenia, Anemia, Abn... |
ORPHA:848 |
| Timothy Syndrome |
|
Hypocalcemia, Hypoglycemia |
OMIM:601005 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| X-Linked Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Hypocalcemia, Neutropenia |
ORPHA:47 |
| Rhabdoid Tumor |
|
Anemia, Hypercalcemia, Thrombocytopenia, Irritability |
ORPHA:69077 |
| Cholera |
|
Hypoglycemia, Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Abnormal blood ion concentra... |
ORPHA:173 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Hypophosphatasia |
|
Anemia, Hypercalcemia, Irritability |
ORPHA:436 |
| Autosomal Dominant Hypocalcemia |
|
Depression, Hyperphosphatemia, Hypomagnesemia, Paresthesia, Emotional lability, Hypocalcemia, Wri... |
ORPHA:428 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Hypercalcemia, Thrombocytopenia |
ORPHA:2123 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Irritability |
OMIM:264700 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia |
ORPHA:2668 |
| Pseudohypoparathyroidism Type 1C |
|
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Paresthesia, Hypocalcemia... |
ORPHA:79444 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypochromic anemia, Leukocytosis, Splenomegaly, Hypocalcemia, Irritability, Hypophosphatemia, Hyp... |
ORPHA:289157 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia |
OMIM:259700 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hyper... |
OMIM:259720 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Inappropriate laughter, Hypocalcemia, Ataxia |
OMIM:618476 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Chorea, Gait ataxia, Aggressive behavior, Hyperactivity, Dystonia, Dysph... |
ORPHA:500180 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Paroxysmal bursts of l... |
OMIM:618718 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Colchicine Poisoning |
|
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... |
ORPHA:31824 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Autoimmune hemolytic anemia, Splenomeg... |
ORPHA:37042 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Hypocalcemia, Hyperammonem... |
ORPHA:26793 |
| Pseudohypoparathyroidism Type 1A |
|
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Paresthesia, Hypocalcemia... |
ORPHA:79443 |
| Pearson Syndrome |
|
Ataxia, Glycosuria, Hypomagnesemia, Pancytopenia, Reticulocytosis, Splenomegaly, Hypocalcemia, Hy... |
ORPHA:699 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... |
ORPHA:247353 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic... |
ORPHA:411634 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Gitelman Syndrome |
|
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Polydipsia, Hypomagnesemia, Parest... |
ORPHA:358 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Hypoglycemia |
OMIM:607143 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Splenomegaly, Hypocalcemia |
OMIM:618440 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Neonata... |
OMIM:617600 |
| Hyperlysinemia, Type I |
|
Hypoornithinemia, Hyperlysinemia, Hyperactivity, Anemia, Dysdiadochokinesis |
OMIM:238700 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
| Ethylene Glycol Poisoning |
|
Hypocalcemia, Addictive alcohol use, Euphoria, Ataxia, Hyperkalemia |
ORPHA:31826 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Irritability, Anorexia, Anemia, Hypercalcemia |
OMIM:241500 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia |
OMIM:617913 |
| Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia |
OMIM:127000 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Type I diabetes mellitus, Hypoglycemia, Macrocytic anemia, Hyperuricemia, Hypo... |
ORPHA:199299 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Hypocalcemia |
ORPHA:746 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentr... |
ORPHA:100924 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
| Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia |
OMIM:239200 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Gait ataxia, Self-mutilation, Tremor, Aggressive behavior, Attention deficit hyper... |
ORPHA:476126 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... |
ORPHA:36234 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Polyphagia, Episodic hemolytic anemia, Increased blood urea nitrogen, Hyperca... |
ORPHA:251004 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Chorea, Exaggerated startle response, Dys... |
ORPHA:309246 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Self-injurious behavior, Persistence of hemoglobin F, Limb ataxia, Recurrent hand flapping, Trunc... |
OMIM:617101 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia |
ORPHA:94059 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia |
OMIM:618314 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Splenomegaly, Hypocalcemia |
OMIM:235255 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Orthostatic Hypotension 2 |
|
Anemia, Hypoglycemia |
OMIM:618182 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
| Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Velocardiofacial Syndrome |
|
Aggressive behavior, Emotional lability, Hypocalcemia |
OMIM:192430 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Pain insensitivity, Fixated interests, Emotional lability, Hypocalcemia,... |
OMIM:620330 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Opisthotonus, Polycythemia, Tremor |
OMIM:250800 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Hypoproteinemia, Splenomegaly, Hypocalcemia |
ORPHA:1655 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Athetosis, Limb dystonia |
ORPHA:621 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Depression, Abnormal circulating biopterin concentration, Tremor, Abnormal cir... |
OMIM:612716 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hypoglycemia, Hyperuricemia, Hyponatremia, Salt craving, Anorexia, Hyperkalemi... |
ORPHA:95409 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia, Tremor |
ORPHA:94080 |
| X-Linked Creatine Transporter Deficiency |
|
Chorea, Self-mutilation, Hyperactivity, Abnormal circulating creatine concentration, Ataxia, Dyst... |
ORPHA:52503 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Diabe... |
ORPHA:544482 |
| Igg4-Related Thyroid Disease |
|
Dysphagia, Hypocalcemia |
ORPHA:64744 |
| Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Irritabil... |
ORPHA:449291 |
| Spinal Cord Injury |
|
Dysesthesia, Hypercalcemia, Somatic sensory dysfunction, Allodynia |
ORPHA:90058 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypernatremia, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Irritability, Impulsivity, Hyperacti... |
OMIM:620423 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Abnormal T cell mo... |
ORPHA:760 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Addison Disease |
|
Normocytic anemia, Type I diabetes mellitus, Hypoglycemia, Thiamine-responsive megaloblastic anem... |
ORPHA:85138 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperlipidemi... |
ORPHA:247585 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypoglycemia, Pancytopenia, Hypocalcemia, Anemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
| Cartilage-Hair Hypoplasia |
|
Anemia, Hypocalcemia, Neutropenia |
ORPHA:175 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Hypoglycemia, Ataxia, Elevated hemoglobin A1c, Dystonia |
OMIM:616113 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia, Polydipsia |
OMIM:617994 |
| Hypomagnesemia 3, Renal |
|
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... |
OMIM:248250 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia |
ORPHA:163979 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Tremor, Hypocalcemia, Hypophosphatemia, Anemia |
ORPHA:667 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypermagnesemia, Depression, Hypercalcemia |
OMIM:600740 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemic seizures, Diabetes mellitus, Hypocalcemia |
ORPHA:2237 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Throm... |
ORPHA:2785 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... |
ORPHA:466650 |
| Lead Poisoning |
|
Depression, Somatic sensory dysfunction, Imbalanced hemoglobin synthesis, Decreased HDL cholester... |
ORPHA:330015 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Splenomegaly, Hypoc... |
OMIM:619991 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Chorea, Gait ataxia, Intention tremor, Dysmetria, Emotional lability, Hyperactivity, Dystonia, Dy... |
OMIM:610217 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... |
OMIM:610042 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| 22Q11.2 Deletion Syndrome |
|
Depression, Splenomegaly, Hypocalcemia, Hypoplasia of the thymus, Attention deficit hyperactivity... |
ORPHA:567 |
| Hennekam Syndrome |
|
Lymphopenia, Splenomegaly, Hypocalcemia |
ORPHA:2136 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Paresthesia, Splenomegaly, Anemia, Hyperproteinemi... |
ORPHA:29073 |
| Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypomagnesemia, Bruxism, Hepatosplenomegaly, Hemolytic anemia, Stereotypical body rocking, Low fr... |
OMIM:619503 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
| Glucagonoma |
|
Depression, Hypercalcemia, Acanthocytosis, Anorexia, Diabetes mellitus, Normochromic anemia |
ORPHA:97280 |
| Monosomy 13Q34 |
|
Insulin resistance, Hypercalcemia |
ORPHA:96168 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positiv... |
ORPHA:83471 |
| Choreoacanthocytosis |
|
Resting tremor, Acanthocytosis, Limb dystonia, Emotional lability, Hair-pulling, Lingual dystonia... |
ORPHA:2388 |
| Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Argininemia |
|
Hyperammonemia, Hyperargininemia, Irritability, Hyperactivity, Anorexia, Reduced erythrocyte argi... |
OMIM:207800 |
| Vipoma |
|
Hypokalemia, Anorexia, Hypercalcemia, Normochromic anemia, Diabetes mellitus |
ORPHA:97282 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Glucose intolerance, Emotional lability, Hypokalemia, Impaired gl... |
OMIM:219090 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hypercalcemia, Hyperphosphatemia, Calcinosis |
OMIM:211900 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Anemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia |
ORPHA:93325 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Tremor |
ORPHA:276621 |
| Digeorge Syndrome |
|
Splenomegaly, Hypocalcemia, Hypoplasia of the thymus, Attention deficit hyperactivity disorder, T... |
OMIM:188400 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
| Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
| Somatostatinoma |
|
Hypercalcemia, Diabetes mellitus, Hypochromic microcytic anemia, Anorexia |
ORPHA:97283 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin |
ORPHA:98791 |
| Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
| Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia, Paresthesia, Diabetes mellitus |
ORPHA:249 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Blepharospasm, Depression, Acanthocytosis, Obsessive-compulsive trait, Tremor, Motor... |
OMIM:234200 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia, Irritability |
OMIM:277440 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Hypoglycemia |
OMIM:131100 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Tremor |
ORPHA:29072 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Self-injurious behavior, Depression, Abnormal hemoglobin |
ORPHA:847 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Paresthesia, Hypokalemia, Hyp... |
OMIM:601678 |
| Familial Gestational Hyperthyroidism |
|
Hand tremor, Hyperactivity, Agitation |
ORPHA:99819 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Hypophosphatemia, Dysphagia, Hypercalcemia |
ORPHA:99880 |
| Parathyroid Carcinoma |
|
Polydipsia, Hypophosphatemia, Dysphagia, Hypercalcemia |
ORPHA:143 |
| Charge Syndrome |
|
Lymphopenia, Dysphagia, Hypocalcemia, Self-mutilation |
OMIM:214800 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Hypertriglyceridemia |
ORPHA:369837 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Motor stereotypy, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
| Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
| Ppoma |
|
Hypercalcemia, Anorexia |
ORPHA:97278 |
| Thymoma |
|
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased glucagon level, Hypercalcemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia |
ORPHA:276152 |
| Johanson-Blizzard Syndrome |
|
Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinem... |
OMIM:243800 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Grfoma |
|
Hypercalcemia, Anorexia |
ORPHA:97261 |
| Williams Syndrome |
|
Depression, Abnormal circulating lipid concentration, Type II diabetes mellitus, Tremor, Overfrie... |
ORPHA:904 |
| Zollinger-Ellison Syndrome |
|
Hypercalcemia, Increased glucagon level |
ORPHA:913 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Hypocalcemic seizures, Splenomegaly |
OMIM:612301 |
| Multiple Endocrine Neoplasia Type 1 |
|
Depression, Hypercalcemia, Anorexia |
ORPHA:652 |
| Sarcoidosis |
|
Leukopenia, Hypercalcemia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemoly... |
ORPHA:797 |
| Sotos Syndrome |
|
Hypercalcemia, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, Acute lymph... |
ORPHA:821 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
| Williams-Beuren Syndrome |
|
Glucose intolerance, Obsessive-compulsive trait, Attention deficit hyperactivity disorder, Hyperc... |
OMIM:194050 |
| Alkaptonuria |
|
Methemoglobinemia, Hemolytic anemia |
ORPHA:56 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
| Retinitis Pigmentosa 60 |
|
|
OMIM:613983 |
