Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Dementia, Hypoalbuminemia, Cognitive ... |
OMIM:208920 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairment, Dyst... |
OMIM:616267 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... |
OMIM:246700 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Cognitive impairment |
ORPHA:172 |
Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... |
ORPHA:94090 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Hearing impairment, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Autoimmune Hypoparathyroidism |
|
Confusion, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemic... |
ORPHA:36913 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Intention tremor |
OMIM:610539 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia, Hearing impairment |
OMIM:618349 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
2P21 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Hypocalcemia |
ORPHA:163693 |
Ring Chromosome 10 Syndrome |
|
Wide nasal bridge, Abnormal antihelix morphology, Large earlobe, Hypocalcemia, Low-set ears |
ORPHA:1438 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, T... |
ORPHA:247585 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration, Low-set ears |
ORPHA:79320 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Sensorineural hearing impairment, Wide nasal bridge, Hypocalcemia, Conductive hear... |
ORPHA:557003 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Saccharopinuria |
|
Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme ... |
ORPHA:3124 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... |
OMIM:616050 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho... |
ORPHA:99845 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Cognitive impairment |
OMIM:612462 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Se... |
OMIM:242150 |
Hypotonia-Cystinuria Syndrome |
|
Macrotia, Posteriorly rotated ears, Hypocalcemia |
OMIM:606407 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Reni Syndrome |
|
Mental deterioration, Sensorineural hearing impairment, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... |
ORPHA:88618 |
Nephrotic Syndrome, Type 8 |
|
Sensorineural hearing impairment, Hypoalbuminemia |
OMIM:615244 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Squalene Synthase Deficiency |
|
Posteriorly rotated ears, Increased circulating farnesol concentration, Decreased LDL cholesterol... |
OMIM:618156 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Intention tremor, Hypoalbuminemia, Mental deterioration, Action tremor |
OMIM:254900 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia, Low-set ears |
OMIM:608104 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia, Hearing impairment |
ORPHA:53 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Oculogyric crisis, Elevated circulating creatine kinase concentration, Tremor, Hype... |
ORPHA:94093 |
Dahlberg-Borer-Newcomer Syndrome |
|
Wide nasal bridge, Hypocalcemia |
ORPHA:1563 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Low-set ears, Hypomagnesemia |
OMIM:618183 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529799 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Hyperphosphatemia, Hypocalcemia, Low-set ears, Hypocalcemic seizures |
OMIM:241410 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Steatorrhea |
ORPHA:2070 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Intermediate Osteopetrosis |
|
Hypocalcemia |
ORPHA:210110 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Wide nasal bridge, Hypocalcemia, Hearing impairment |
OMIM:618440 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... |
ORPHA:94089 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Short nose, Hypercalcemia, Low-set ears |
OMIM:614732 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Peroxisome Biogenesis Disorder 3B |
|
Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Steatorrhea, ... |
OMIM:266510 |
Potocki-Lupski Syndrome |
|
Hearing impairment, Hypocholesterolemia |
OMIM:610883 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Wide nasal bridge, Hypoproteinemia, Hypocalcemia, Low-set ears |
OMIM:235255 |
Hepatoportal Sclerosis |
|
Cognitive impairment, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
X-Linked Agammaglobulinemia |
|
Sensorineural hearing impairment, Hypocalcemia |
ORPHA:47 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Tremor, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Macrotia, Intention tremor |
OMIM:212065 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Bacterial Toxic-Shock Syndrome |
|
Confusion, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... |
ORPHA:36234 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Mental deterioration, Hypocalcemia, Cognitive impairment |
OMIM:618476 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Sensorineural hearing impairment, Hyperammonemia, Decreased serum ... |
OMIM:617093 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Confusion, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, ... |
ORPHA:79444 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Sensorineural hearing impairment, Hypertriglyceride... |
ORPHA:540 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia |
OMIM:617021 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Sensorineural hearing impairment, Hypoalbuminemia, Progressive neurologic deteri... |
OMIM:618329 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Sensorineural hearing impairment, Hypercalcemia |
ORPHA:2668 |
Non-Functioning Paraganglioma |
|
Tremor, Conductive hearing impairment, Pulsatile tinnitus, Hypercalcemia |
ORPHA:94080 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, External ear malformation, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Wilson Disease |
|
Limb dystonia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Tremor, Hand trem... |
OMIM:277900 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Hypocalcemia |
OMIM:607143 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia, Hearing impairment |
OMIM:259700 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Confusion, Sensorineural hearing impairment, Choreoathetosis, Hyperphosphatemia, Hypo... |
ORPHA:79443 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Wide nasal bridge, Hypocholesterolemia |
OMIM:618810 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Steatorrhea, Hypocholesterolemia |
OMIM:607765 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia, Low-set ears |
ORPHA:1655 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Sensorineural hearing i... |
ORPHA:96180 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Wide nasal bridge |
OMIM:617303 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
Double Outlet Right Ventricle |
|
Abnormality of cartilage of external ear, Hypocalcemia |
ORPHA:3426 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Dystonia |
OMIM:619487 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... |
ORPHA:37042 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Sensorineural hearing impairment, Wide nasal bridge, Hypoalbuminemia, Low-set ears, Conductive he... |
OMIM:235510 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:251880 |
Alg12-Cdg |
|
Hyponatremia, Abnormal pinna morphology, Sensorineural hearing impairment, Hypoalbuminemia, Hypoc... |
ORPHA:79324 |
Isotretinoin-Like Syndrome |
|
Aplasia/Hypoplasia of the inner ear, Microtia, Anotia, Hypocalcemia, Bilateral sensorineural hear... |
ORPHA:2306 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Hypoalbuminemia, Microtia, Cognitive impairment, Hypermethioninemia, Abnorm... |
OMIM:222470 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... |
ORPHA:14 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... |
ORPHA:89842 |
Galloway-Mowat Syndrome 1 |
|
Macrotia, Hypoalbuminemia, Low-set ears, Dystonia |
OMIM:251300 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment |
OMIM:103580 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia, Steatorrhea |
OMIM:212750 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Hearing impairment |
OMIM:610965 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Wide nasal bridge, Hypocalcemia, Cognitive impairment, Macrotia |
ORPHA:175 |
Ethylene Glycol Poisoning |
|
Confusion, Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Low-set ears |
OMIM:617729 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphosphatemia, H... |
ORPHA:466650 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Hypoalbuminemia |
ORPHA:85443 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Short nose, Hypercalcemia, Attention deficit hyperactivity disorder |
ORPHA:476126 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... |
ORPHA:90321 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Hennekam Syndrome |
|
External ear malformation, Wide nasal bridge, Hypocalcemia, Low-set ears, Conductive hearing impa... |
ORPHA:2136 |
Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Hypocalcemia, Hearing impairment, Hypophosphatemia |
ORPHA:667 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Cognitive impairment, Dystonia |
ORPHA:309246 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Conductive hearing impairment, Pulsatile tinnitus, Hypercalcemia |
ORPHA:276621 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short nose, Hypoalbuminemia |
ORPHA:505248 |
Craniofacioskeletal Syndrome |
|
Microtia, Posteriorly rotated ears, Hypocalcemia |
OMIM:300712 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ... |
ORPHA:845 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Microtia, Posteriorly rotated ears, Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Kaufman Oculocerebrofacial Syndrome |
|
Short nose, Abnormal pinna morphology, Low-set ears, Hypocholesterolemia |
OMIM:244450 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, External ear malformation, Wide nasal bridge,... |
ORPHA:438216 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Progressive psychomotor deterioration, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig... |
ORPHA:2298 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Pearson Syndrome |
|
Hypomagnesemia, Steatorrhea, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia, Hearin... |
ORPHA:699 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Dubowitz Syndrome |
|
Short attention span, Wide nasal bridge, Protruding ear, Low-set ears, Hypocholesterolemia |
OMIM:223370 |
Osteopetrosis With Renal Tubular Acidosis |
|
Conductive hearing impairment, Hypocalcemia, Macrotia, Elevated circulating creatine kinase conce... |
ORPHA:2785 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Progressive sensorineural hearing impairment, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Posteriorly rotated ears, Wide nasal bridge, Protruding ear, Hypocalcemia, Attention deficit hype... |
OMIM:620330 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
Cranioectodermal Dysplasia 1 |
|
Wide nasal bridge, Hypocalcemia, Low-set ears, Protruding ear |
OMIM:218330 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Gitelman Syndrome |
|
Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Primary hyperaldosteronism, Tinnitus |
ORPHA:358 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hearing impairment, Hypophosphatemia |
OMIM:156400 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Confusion, Elevated circulat... |
ORPHA:99826 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
22Q11.2 Deletion Syndrome |
|
Wide nasal bridge, Overfolded helix, Hypocalcemia, Attention deficit hyperactivity disorder, Low-... |
ORPHA:567 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia |
ORPHA:79396 |
Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, Low-set ears |
ORPHA:79076 |
Thymic Neuroendocrine Tumor |
|
Increased circulating cortisol level, Hypercalcemia |
ORPHA:97289 |
Paget Disease Of Bone 2, Early-Onset |
|
Bilateral conductive hearing impairment, Hypercalcemia |
OMIM:602080 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Posteriorly rotated ears, Low-set ears |
OMIM:618598 |
Smith-Lemli-Opitz Syndrome |
|
Posteriorly rotated ears, Wide nasal bridge, Hypoalbuminemia, Elevated circulating 7-dehydrochole... |
OMIM:270400 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Short attention span, Elevated circulating alpha-fetoprotein concentration, Increas... |
OMIM:619991 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Conductive hearing impairment, Pulsatile tinnitus, Hypercalcemia |
ORPHA:29072 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Monosomy 13Q34 |
|
Abnormal earlobe morphology, Posteriorly rotated ears, Hypercalcemia |
ORPHA:96168 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Macrotia |
OMIM:617864 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Hyperuricemia |
ORPHA:199299 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Increased circul... |
ORPHA:95409 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment |
OMIM:620114 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Cockayne Syndrome A |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hearing impairment, Wide nasal bridge, Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Wide nasal bridge, Low-set ears, Hearing impairment |
ORPHA:369837 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Primary Sclerosing Cholangitis |
|
Hypoalbuminemia |
ORPHA:171 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Cognitive impairment, Low-set ears, Short... |
OMIM:617527 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy... |
OMIM:601678 |
Immunodeficiency 82 With Systemic Inflammation |
|
Cholesteatoma, Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Tremor, Macrotia, Hypoasparaginemia, Simple ear |
OMIM:615574 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Hearing impairment |
OMIM:620327 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Fibrous Dysplasia Of Bone |
|
Increased circulating cortisol level, Hypercalcemia, Hearing impairment, Hypophosphatemia |
ORPHA:249 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypocalcemia, Low-set ears, Hypomagnesemia, Short nose, Macrotia |
OMIM:619503 |
Addison Disease |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Increased circul... |
ORPHA:85138 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Macrotia, Hypoalbuminemia |
OMIM:614748 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Sandhoff Disease |
|
Exaggerated startle response, Progressive psychomotor deterioration |
OMIM:268800 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Sensorineural hearing impairment, Renal hypophosph... |
ORPHA:289176 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Low-set ears |
OMIM:617301 |
Digeorge Syndrome |
|
Low-set ears, Hypocalcemia, Attention deficit hyperactivity disorder |
OMIM:188400 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment |
ORPHA:79255 |
Multiple Endocrine Neoplasia, Type I |
|
Increased circulating cortisol level, Hypercalcemia |
OMIM:131100 |
Charge Syndrome |
|
Mixed hearing impairment, Aplasia of the semicircular canal, Sensorineural hearing impairment, Cu... |
OMIM:214800 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Macrotia |
OMIM:617281 |
Somatostatinoma |
|
Increased circulating cortisol level, Hypercalcemia, Steatorrhea |
ORPHA:97283 |
Vipoma |
|
Hypokalemia, Increased circulating cortisol level, Hypercalcemia |
ORPHA:97282 |
Ppoma |
|
Increased circulating cortisol level, Hypercalcemia |
ORPHA:97278 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Sensorineural hearing impairment, Hypocalcemia, Increased VLDL cho... |
OMIM:243800 |
Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Glucagonoma |
|
Increased circulating cortisol level, Hypercalcemia, Steatorrhea |
ORPHA:97280 |
Zollinger-Ellison Syndrome |
|
Increased circulating cortisol level, Hypercalcemia |
ORPHA:913 |
Grfoma |
|
Increased circulating cortisol level, Hypercalcemia |
ORPHA:97261 |
Williams Syndrome |
|
Low-set, posteriorly rotated ears, Hypercalcemia, Elevated circulating creatine kinase concentrat... |
ORPHA:904 |
Multiple Endocrine Neoplasia Type 1 |
|
Short attention span, Confusion, Hypercalcemia, Increased circulating cortisol level, Primary hyp... |
ORPHA:652 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Hypercalcemia |
ORPHA:276152 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Small earlobe, Posteriorly rotated ears, Long nose, Wide nasal brid... |
OMIM:619522 |
Williams-Beuren Syndrome |
|
Short attention span, Hypercalcemia, Sensorineural hearing impairment, Large earlobe, Attention d... |
OMIM:194050 |
Pmm2-Cdg |
|
Abnormal pinna morphology, Reduced thyroxin-binding globulin, Macrotia, Hypoalbuminemia |
ORPHA:79318 |
Sotos Syndrome |
|
Hypercalcemia, Tremor, Attention deficit hyperactivity disorder, Conductive hearing impairment, C... |
ORPHA:821 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hypocalcemic seizures |
OMIM:612301 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Decreased serum iron, Dystonia |
ORPHA:438213 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Sarcoidosis |
|
Hypercalcemia |
ORPHA:797 |