Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Hypoalphalipoproteinemia, Primary, 2, Intermediate |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration |
OMIM:619836 |
Amyloidosis, Cutaneous Bullous |
|
Amyloidosis |
OMIM:204900 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Cutaneous amyloidosis |
OMIM:613955 |
Myeloma, Multiple |
|
Amyloidosis |
OMIM:254500 |
Tumoral Calcinosis, Normophosphatemic, Familial |
|
Abnormal blood phosphate concentration, Abnormality of vitamin D metabolism, Abnormal circulating... |
OMIM:610455 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant |
|
Reduced circulating vitamin A concentration, Increased circulating beta-carotene concentration |
OMIM:115300 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Amyloidosis |
OMIM:204850 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Cutaneous amyloidosis |
OMIM:105250 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Generalized amyloid deposition |
OMIM:105150 |
Variant Abeta2M Amyloidosis |
|
Renal amyloidosis, Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, ... |
ORPHA:314652 |
Bile Acid Malabsorption, Primary, 2 |
|
Reduced circulating vitamin A concentration, Decreased circulating vitamin E concentration, Decre... |
OMIM:619481 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Low serum calcitriol, Decreased cir... |
OMIM:619073 |
Acys Amyloidosis |
|
Amyloidosis, Cerebral amyloid angiopathy |
ORPHA:100008 |
Amyloidosis, Hereditary Systemic 2 |
|
Generalized amyloid deposition, Renal amyloidosis |
OMIM:105200 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Decreased circulating vitamin D concentration, Increased serum b... |
OMIM:619256 |
Hypobetalipoproteinemia, Familial, 1 |
|
Reduced circulating vitamin A concentration, Decreased HDL cholesterol concentration, Hypocholest... |
OMIM:615558 |
Amyloidosis, Finnish Type |
|
Generalized amyloid deposition, Renal glomerular amyloid deposition, Optic neuropathy, Cardiac am... |
OMIM:105120 |
Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Abnormal circulating vitamin A concentration, Abnormal c... |
ORPHA:209902 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Type I diabetes mellitus, Reduced circulating vitamin A concentration, Hypocholesterolemia, Decre... |
ORPHA:96180 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Reduced circulating vitamin A concentration |
OMIM:277350 |
Carpal Tunnel Syndrome 1 |
|
Reduced circulating vitamin B6 circulating |
OMIM:115430 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Amyloidosis, Cutaneous macular amyloidosis |
OMIM:615225 |
Aa Amyloidosis |
|
Renal amyloidosis, Amyloidosis |
ORPHA:85445 |
Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
Idiopathic Trachyonychia |
|
Amyloidosis |
ORPHA:79153 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Decreased circulating vitamin B1 concentration |
ORPHA:369873 |
Abetalipoproteinemia |
|
Hypoalbuminemia, Reduced circulating vitamin A concentration, Hypotriglyceridemia, Hypocholestero... |
ORPHA:14 |
Formiminoglutamic Aciduria |
|
Abnormal circulating histidine concentration, Increased blood folate concentration, Abnormality o... |
ORPHA:51208 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Hypergastrinemia, Hyperpepsinogenemia I |
OMIM:126840 |
Aapoaiv Amyloidosis |
|
Cutaneous amyloidosis, Renal interstitial amyloid deposits, Renal amyloidosis, Cardiac amyloidosis |
ORPHA:439232 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Hyperpepsinogenemia I |
OMIM:126850 |
Periodic Fever, Familial, Autosomal Dominant |
|
AA amyloidosis, Hepatic amyloidosis |
OMIM:142680 |
Amyloidosis, Hereditary Systemic 1 |
|
Amyloidosis |
OMIM:105210 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatemic rickets, Increa... |
ORPHA:157215 |
Diamond-Blackfan Anemia 9 |
|
Decreased circulating vitamin D concentration |
OMIM:613308 |
Imerslund-Grasbeck Syndrome 1 |
|
Abnormal blood folate concentration, Decreased circulating vitamin B12 concentration, Malabsorpti... |
OMIM:261100 |
Shwachman-Diamond Syndrome |
|
Hypoamylasemia, Reduced circulating vitamin A concentration, Hypopituitarism, Decreased response ... |
ORPHA:811 |
Intrinsic Factor Deficiency |
|
Decreased circulating vitamin B12 concentration, Malabsorption of Vitamin B12, Reduced haptoglobi... |
OMIM:261000 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Reduced circulating vitamin A concentration, Decreased circulating vitamin K concentration, Decre... |
ORPHA:309031 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Type I diabetes mellitus, Reduced circulating vitamin A concentration, Decreased... |
ORPHA:171 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Decreased circulating vitamin K concentration, Elevated circulating creatine kinase concentration |
ORPHA:565899 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating vitamin B2 concentration |
OMIM:615026 |
Pernicious Anemia |
|
Malabsorption of Vitamin B12 |
OMIM:170900 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypercalcemia, High serum calc... |
OMIM:617994 |
Dietary Iron Overload Disease |
|
Abnormal thyroid morphology, Increased circulating cortisol level, Increased circulating ferritin... |
ORPHA:139507 |
Hypercholanemia, Familial 1 |
|
Decreased circulating vitamin K concentration, Increased serum bile acid concentration |
OMIM:607748 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Amyloidosis |
ORPHA:98849 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Primary hypothyroidism, Low plasma citrulline, Abnormality of vitamin met... |
ORPHA:95427 |
Liver Disease, Severe Congenital |
|
Reduced circulating vitamin A concentration, Increased circulating ferritin concentration, Hyperb... |
OMIM:619991 |
Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Abnormality of vitamin metabolism, Hypoproteinemia... |
ORPHA:90362 |
Familial Mediterranean Fever |
|
Renal amyloidosis, Amyloidosis |
OMIM:249100 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system |
ORPHA:231736 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Cutaneous amyloidosis |
OMIM:301220 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Reduced circulating vitamin A concentration, Hypocalcemia, Unconjugated hyperbil... |
OMIM:613658 |
Q Fever |
|
Amyloidosis |
ORPHA:781 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Elevated circulating parathyroid hormone level, High serum calcitriol |
OMIM:613388 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, High serum calcifediol, Hypophosphatemia, High serum calcitriol, Abnorm... |
OMIM:241530 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Elevated circulating parathyroid hormone level, High serum calcitriol |
OMIM:600785 |
Autosomal Recessive Polycystic Kidney Disease |
|
Reduced circulating vitamin A concentration, Decreased circulating vitamin K concentration, Incre... |
ORPHA:731 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hypogonadism, Decreased circulating vitamin K concentration, Type II diabetes mellitus, Elevated ... |
ORPHA:79095 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Abnormality of vitamin metabolism, Hyperbilirubinemia |
ORPHA:79302 |
Bile Acid Synthesis Defect, Congenital, 6 |
|
Hypolipidemia, Decreased circulating vitamin D concentration |
OMIM:617308 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Low serum calcitriol, Decreased cir... |
OMIM:264700 |
Deafness-Hypogonadism Syndrome |
|
Decreased circulating vitamin B1 concentration, Delayed puberty, Hypergonadotropic hypogonadism |
ORPHA:90646 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Folate Malabsorption, Hereditary |
|
Reduced blood folate concentration, Impaired folate absorption |
OMIM:229050 |
Lead Poisoning |
|
Abnormality of vitamin D metabolism, Decreased circulating osteocalcin level, Increased LDL chole... |
ORPHA:330015 |
Megaloblastic Anemia, Folate-Responsive |
|
Decreased circulating vitamin B12 concentration, Hyperbilirubinemia, Hyperhomocystinemia, Increas... |
OMIM:601775 |
Classic Galactosemia |
|
Decreased serum insulin-like growth factor 1, Delayed puberty, Decreased circulating vitamin D co... |
ORPHA:79239 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Abnormal circulating vitamin B12 concentration, Abnormal blood folate concentration, Hypomethioni... |
OMIM:250940 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased circulating calcifediol concentration, Decreased circulating vitamin E concentration, H... |
OMIM:214950 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Hypotriglyceridemia, Pineal cyst, Decreased HDL cholesterol concentration, Decreased serum creati... |
OMIM:618885 |
Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
Generalized Eruptive Histiocytosis |
|
Abnormal circulating vitamin B12 concentration |
ORPHA:157991 |
Osteoporosis-Pseudoglioma Syndrome |
|
Isosexual precocious puberty, Low serum calcitriol |
ORPHA:2788 |
Familial Mediterranean Fever |
|
Amyloidosis |
ORPHA:342 |
Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Reduced blood folate concentration, Decreased circulating vitamin D con... |
OMIM:212750 |
Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Low serum calcitriol, Hypophosphatemia, Hypoprotei... |
ORPHA:398063 |
Alkaptonuria |
|
Amyloidosis |
ORPHA:56 |
Immunodeficiency 114, Folate-Responsive |
|
Abnormal blood folate concentration, Increased circulating ferritin concentration, Hypertriglycer... |
OMIM:620603 |
Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating parathyroid hormone level, Hypophosphatemia, High serum calcitriol, Hypocalc... |
OMIM:277440 |
Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system |
OMIM:120200 |
Maxillonasal Dysplasia |
|
Decreased circulating vitamin K concentration |
ORPHA:1248 |
Chylomicron Retention Disease |
|
Abnormality of vitamin metabolism, Hypocholesterolemia |
ORPHA:71 |
Multiple Endocrine Neoplasia, Type Iia |
|
Cutaneous lichen amyloidosis |
OMIM:171400 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Abnormality of vitamin D metabolism, Diabetes mellitus, Decreased serum zinc |
ORPHA:541423 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia, Decreased circulating vitamin D concentration |
ORPHA:89937 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperparathyroidism, Hyperphosphatemia, High serum calcitriol, Calcinosis, Hypercalcemia |
OMIM:211900 |
Hyperprolinemia Type 2 |
|
Hyperprolinemia, Hyperalaninemia, Hyperglycinemia, Reduced circulating vitamin B6 circulating |
ORPHA:79101 |
Methylmalonic Aciduria, Cblb Type |
|
Elevated circulating propionylcarnitine concentration, Abnormal circulating vitamin B12 concentra... |
OMIM:251110 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Low serum calcitriol, Hypophosphate... |
ORPHA:289157 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Decreased circulating calcifediol concentration, Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Decreased circulating vitamin E concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia,... |
ORPHA:79303 |
Infantile Nephropathic Cystinosis |
|
Abnormality of vitamin D metabolism, Abnormality of thyroid physiology, Hypokalemia, Hypophosphat... |
ORPHA:411629 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal amyloidosis |
OMIM:134610 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... |
ORPHA:89842 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Decreased circulating vitamin E concentration, Hyperchol... |
OMIM:277460 |
Marchiafava-Bignami Disease |
|
Decreased circulating vitamin B1 concentration |
ORPHA:221074 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Renal amyloidosis |
OMIM:120100 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Abnormal blood folate concentration, Decreased CSF 5-methyltetrahydrofolate concentration |
OMIM:613839 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Abnormal circulating vitamin B12 concentration, Hyperglycinemia, Hyperammonemia, Methylmalonic ac... |
OMIM:251000 |
Muckle-Wells Syndrome |
|
Optic atrophy, Renal amyloidosis |
ORPHA:575 |
Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves |
ORPHA:282166 |
Muckle-Wells Syndrome |
|
Renal amyloidosis |
OMIM:191900 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of amino acid metabolism, Abnormal blood inorganic cation concentration, Increased to... |
ORPHA:309854 |
Methylmalonic Aciduria, Cbla Type |
|
Abnormal circulating vitamin B12 concentration, Hyperglycinemia, Hyperammonemia, Decreased circul... |
OMIM:251100 |
Persistent Hyperplastic Primary Vitreous |
|
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... |
ORPHA:91495 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... |
ORPHA:411634 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets, High serum calcitriol |
OMIM:300554 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Abnormal circulating vitamin B12 concentration |
ORPHA:544503 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Abnormal circulating selenium concentration, Delayed puberty, Decreased serum zinc, Abnormality o... |
ORPHA:79408 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... |
OMIM:614643 |
Multiple Endocrine Neoplasia Type 2 |
|
Cutaneous lichen amyloidosis |
ORPHA:653 |
Hypomagnesemia 3, Renal |
|
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Elevated circ... |
OMIM:248250 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia, Abnormality of vi... |
ORPHA:29073 |
Dent Disease 1 |
|
Hypophosphatemia, High serum calcitriol |
OMIM:300009 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Abnormality of vitamin D metabolism, Hypophosphatemic rickets, Low serum ... |
ORPHA:289176 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal blood 5-methyltetrahydrofolate level, Decreased circulating vitamin B12 concentration, M... |
ORPHA:35858 |
Transcobalamin Ii Deficiency |
|
Abnormal blood folate concentration, Hyperhomocystinemia, Abnormal circulating vitamin B12 concen... |
OMIM:275350 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cystathioninemia, Abnormal circulating vitamin B12 concentration, Hypomethioninemia, Decreased ci... |
OMIM:277400 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Decreased circulating vitamin B1 concentration |
ORPHA:79244 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Decreased circulating vitamin D concentration, Hyperlipidemia, Hyperuricemia, Hypothyroidism, Del... |
ORPHA:79259 |
Bone Marrow Failure Syndrome 3 |
|
Decreased circulating vitamin E concentration, Decreased circulating vitamin D concentration |
OMIM:617052 |
Diamond-Blackfan Anemia 7 |
|
Decreased circulating vitamin D concentration |
OMIM:612562 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Remnants of the hyaloid vascular system |
OMIM:221900 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... |
ORPHA:534 |
Dent Disease |
|
Renal hypophosphatemia, High serum calcitriol, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Epidermal Nevus Syndrome |
|
Decreased circulating vitamin D concentration |
ORPHA:35125 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis |
ORPHA:85451 |
Eiken Syndrome |
|
Decreased circulating vitamin D concentration |
OMIM:600002 |
Pearson Syndrome |
|
Hypomagnesemia, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Hyp... |
ORPHA:699 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system |
OMIM:620185 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Decreased circulating vitamin K concentration |
OMIM:118650 |
Mucopolysaccharidosis Type 3 |
|
Decreased circulating vitamin D concentration |
ORPHA:581 |
Congenital Erythropoietic Porphyria |
|
Abnormal circulating porphyrin concentration, Reduced haptoglobin level, Unconjugated hyperbiliru... |
ORPHA:79277 |
Pierson Syndrome |
|
Retinal hemorrhage, Retinal detachment, Remnants of the hyaloid vascular system |
OMIM:609049 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Decreased circulating iron concentration, Increased circulating prolactin con... |
ORPHA:438213 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
Autoimmune Lymphoproliferative Syndrome |
|
Thyroid adenoma, Thyroid carcinoma, Thyroiditis, Abnormal circulating vitamin B12 concentration |
ORPHA:3261 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system |
OMIM:300166 |
Autosomal Dominant Cutis Laxa |
|
Decreased circulating vitamin D concentration |
ORPHA:90348 |
Lysinuric Protein Intolerance |
|
Renal amyloidosis, Hepatic amyloidosis |
ORPHA:470 |
Norrie Disease |
|
Optic atrophy, Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:649 |
Neuroocular Syndrome 1 |
|
Remnants of the hyaloid vascular system |
OMIM:619539 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system |
OMIM:157170 |
Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
Attrv30M Amyloidosis |
|
|
ORPHA:85447 |