Gene: Hgsnat MGI:1196297

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Gene Summary

Name:
heparan-alpha-glucosaminide N-acetyltransferase
Synonyms:
9430010M12Rik,  D8Ertd354e,  Tmem76

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Hgsnatem4(IMPC)Tcp HOM Early adult 1.74×10-06
decreased total body fat amount Hgsnatem4(IMPC)Tcp HOM Early adult 1.26×10-11
abnormal cholesterol homeostasis Hgsnatem4(IMPC)Tcp HOM Early adult 7.90×10-05
short tibia Hgsnatem4(IMPC)Tcp HOM Early adult 4.42×10-05
increased circulating alkaline phosphatase level Hgsnatem4(IMPC)Tcp HOM Early adult 1.97×10-05
enlarged lymph nodes Hgsnatem4(IMPC)Tcp HOM Early adult 0.00
increased circulating phosphate level Hgsnatem4(IMPC)Tcp HOM Early adult 7.69×10-05
enlarged urinary bladder Hgsnatem4(IMPC)Tcp HOM Early adult 0.00
abnormal lung morphology Hgsnatem4(IMPC)Tcp HOM Early adult 0.00
increased circulating potassium level Hgsnatem4(IMPC)Tcp HOM Early adult 5.36×10-09
increased bone mineral content Hgsnatem4(IMPC)Tcp HOM Early adult 1.07×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

Human diseases caused by Hgsnat mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Hgsnat by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Hgsnat by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Short metacarpal, Brachydact... OMIM:603233
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Hypoplasia of the corpus callosum, Chol... OMIM:618528
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Flexi... OMIM:200700
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Osteoporosis, Short metatarsal, Short finger, Hypocalcemic tetany, Low urinary... OMIM:103580
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Osteoporosis, Short metatarsal, Hypocalcemic tetany, Low urinary cyclic AMP re... OMIM:612462
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Emotional blunting, Disinhibition, Aggressive behavior, Apathy, Abnormal cerebral w... ORPHA:275864
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly ORPHA:2274
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Metaphyseal cupping, Bowing of the legs, Flared metaphysis, Genu ... OMIM:619073
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Dystonia, Hypomimic face, Jaundice, Decreased circulating ferritin concentration, A... ORPHA:309854
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Dystonia, Disinhibition, Aggressive behavior, Apathy, Gait disturbance, Urinary inc... OMIM:600795
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Frontotemporal Dementia With Motor Neuron Disease
Disinhibition, Gliosis, Depression, Apathy, Neuronal loss in the cerebral cortex, Abnormal lower ... ORPHA:275872
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Short palm, Small hand, Depressed nasal bridge, Short foot, Micrognathia, Micropeni... OMIM:241410
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Rft1-Cdg
Arthrogryposis multiplex congenita, Bilateral basal ganglia lesions, Cerebral atrophy, Ataxia, He... ORPHA:244310
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated hepatic transaminase, Hypertrophic cardiomyopathy OMIM:614582
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Mildly elevated creatine kinase, Proximal muscle weakn... ORPHA:457050
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Progressive Non-Fluent Aphasia
Astrocytosis, Temporal cortical atrophy, Depression, Abnormal cerebral white matter morphology, A... ORPHA:100070
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of ... ORPHA:93323
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Hypocalcemia, Cortical subperiosteal resorption of humeral metaphyses, Increas... ORPHA:94089
Barth Syndrome
Abnormality of neutrophils, Endocardial fibroelastosis, Dilated cardiomyopathy, Abnormal mitochon... ORPHA:111
Dna2-Related Mitochondrial Dna Deletion Syndrome
Depression, Difficulty walking, Gait disturbance, Elevated creatine kinase after exercise, Multip... ORPHA:352470
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Myoglobinuria OMIM:145600
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Micronodular cirrhosis, Microvesicular hepatic steatosis, Gliosis, Elevated hepatic... OMIM:203700
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Calciphylaxis
Cellulitis, Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Metacarpal periosteal thickening, Hypercalcemia, Osteopenia, Calvarial osteosclerosis, Achilles t... OMIM:617994
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypercalciuria, Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Metaphyseal irregularity, Hypercalciuria, Bowing of the legs, Chronic kidney d... OMIM:300554
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Macular scar, Hydroxyprolinemia, Hydroxyprolinuria, Bowing of the long bones, Hyper... OMIM:239000
Sanjad-Sakati Syndrome
Hypocalcemia, Abnormal dental enamel morphology, Recurrent respiratory infections, Short foot, Sm... ORPHA:2323
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Renal phosphate wasting, Metaphyseal irregularity, Flattening of the talar dome... OMIM:307800
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Barth Syndrome
Endocardial fibroelastosis, Gait disturbance, Neutropenia, Skeletal myopathy, Granulocytopenia, A... OMIM:302060
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Basal ganglia cysts, Atrophy/Degeneration involving the caud... ORPHA:225154
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia, Short distal phalanx of finger OMIM:241519
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Subperiosteal bone formation, Hyperostosis, Calcinosis, Nephrocalcinosis, Decr... OMIM:211900
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Respiratory tract infection, Hypoplasia of the radius, Short femur, Talipes equinov... OMIM:607143
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Akinetic mutism, Cerebral atrophy, Ataxia, Hyperintensity of cerebral whit... ORPHA:204
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Genu valgum, Tubulointerstitial fibrosis, Pulmonary fibrosis, Hypophosphatemic ... OMIM:618913
Acrodysostosis 1 With Or Without Hormone Resistance
Dislocated radial head, Epiphyseal stippling, Short metatarsal, Neonatal epiphyseal stippling, Sh... OMIM:101800
Hyperphosphatasia With Mental Retardation Syndrome 3
Short nose, Hyperphosphatemia, Wide nasal bridge, Broad nasal tip OMIM:614207
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencephaly, Focal whi... OMIM:607341
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemia, Short fifth metatarsal, Short 3rd metacarpal, Short metatarsal, ... ORPHA:79444
Spastic Paraplegia Type 7
Abnormal cerebral white matter morphology, Lower limb hypertonia, Lower limb muscle weakness, Cer... ORPHA:99013
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irreg... OMIM:600081
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Genu valgum, Osteolysis, Bone cyst, Coarse metaphyseal trabecular... ORPHA:93160
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Focal T2 hyperintense basal ganglia lesion, Gait ataxia, Akinetic mutism, Depressio... ORPHA:282166
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Hyponatremia, Renal salt wasting, Increased circulati... OMIM:610600
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Bulging epiphyses, Renal phosphate wasting, Fibular bowing, Enlargement of the ... OMIM:241530
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Calcium nephrolithiasis, Hyper... ORPHA:36913
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Dent Disease 1
Bulging epiphyses, Metaphyseal irregularity, Hypercalciuria, Bowing of the legs, Chronic kidney d... OMIM:300009
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy OMIM:609016
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Hypoplasia of the epiglottis, Syndactyly, Broad nasal tip, Recurrent as... OMIM:300484
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Bowing of the legs, Osteomalacia OMIM:146350
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Inability to walk, Atrial septal defect, Facial hypotonia, Difficulty walking, Mega... OMIM:611087
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Hepatomegaly, Hypertriglyceridemia, Sea-blue histiocytosis, Splenomegaly,... OMIM:607616
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Hypocalcemia, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, ... ORPHA:79443
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of ... OMIM:616828
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Enamel hypoplasia, Bulging epiphyses, Femoral bowing, Fibular bowing, Subperios... OMIM:264700
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Failure to th... OMIM:616963
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Stuve-Wiedemann Syndrome
Abnormal dental enamel morphology, Short phalanx of finger, Micrognathia, Elbow flexion contractu... OMIM:601559
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria, Hyperglycinemia, Bradykinesia, Decreased activity of mitochondrial complex IV, Re... OMIM:619063
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Polydactyly, Ab... ORPHA:1505
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Osteomalacia, Abnor... OMIM:193100
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Umbilica... OMIM:300555
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Hypertrophic cardiomyopathy, Abnormal mitochondri... OMIM:618378
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Increased muscle lipid content, Difficulty walking, Hepatic steato... OMIM:610717
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Enamel hypoplasia, Bulging epiphyses, Femoral bowing, Fibular bowing, Subperios... OMIM:277440
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Elevate... OMIM:613313
Apolipoprotein A-I Deficiency
Anemia, Splenomegaly, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Decreased activity of mitochondrial complex III, Hypoplasia of the corpus callosum, Mac... OMIM:614924
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Truncal ataxia, Cerebral white matter atrophy... ORPHA:369840
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Combined Oxidative Phosphorylation Deficiency 1
Basal ganglia cysts, Decreased activity of mitochondrial complex III, Hypoplasia of the corpus ca... OMIM:609060
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Renal insufficiency, Hyperphosphaturia, Chondrocalcinosis, Hypercalciuria, Gene... ORPHA:99879
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology, Aggres... OMIM:300438
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa... ORPHA:556037
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Abnormality of the medullary cavity of the long bones, Transient hypophosphatemia, ... OMIM:127000
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Dystonia, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Wide nasal bridge, Fibular hypoplasia, Clinod... OMIM:201170
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Clubbing of fingers, Metaphyseal chondrodysplasia, Hyperphosphaturia, Micrognat... OMIM:156400
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis, Nephropathy, Ataxia, Depression OMIM:172500
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Renal salt wasting, Failure to thrive, Hyperkalemia, Recurrent ... OMIM:264350
Ataxia-Pancytopenia Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neutrophils, Abnormal macrophage morphology,... ORPHA:2585
Aicardi-Goutieres Syndrome 4
Dystonia, Elevated hepatic transaminase, Cerebral atrophy, Hepatomegaly, Pancytopenia, Thrombocyt... OMIM:610333
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hyperphosphaturia, Hypophosphatemic rickets, Increased circulating beta-C-termi... ORPHA:157215
Immunodeficiency 48
Hepatomegaly, Pneumonia, Splenomegaly OMIM:269840
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly, Prominent nose OMIM:614882
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Hepatomegaly, Hypert... OMIM:603552
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecular bone morpholo... ORPHA:79106
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Ataxia, Hepatic fibrosis, Hepatomegaly, Cerebellar atrophy, Hepatic failure, Splenom... OMIM:616719
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells OMIM:600333
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa... ORPHA:556030
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Lethargy, Azoospermia, Hepatomegaly, Spl... OMIM:602390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:608971
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hypoplasia of the corpus callosum, Cerebral atrophy, At... OMIM:613489
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Renal insufficiency, Rickets, Generalized aminoaciduria, Proximal tubulopathy, ... OMIM:613388
Developmental And Epileptic Encephalopathy 36
Cerebral atrophy, Flexion contracture, Hepatomegaly, Microcephaly, Anteverted nares OMIM:300884
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content OMIM:261750
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of long bone morphology, Craniosynostosis, Hip subluxation, ... ORPHA:356961
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Recurrent respiratory infections, Lympha... OMIM:618495
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Enamel hypoplasia, Femoral bowing, Subperiosteal bone resorption,... ORPHA:289157
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Dystonia, Decreased activity of mitochondrial complex III, Abnormal mitochondrial shape, Skeletal... ORPHA:17
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hepatomegaly, Hypertriglycer... OMIM:232700
Retinitis Pigmentosa 59
Hepatomegaly, Renal insufficiency, Micropenis, Elevated hepatic transaminase OMIM:613861
Mitochondrial Myopathy, Infantile, Transient
Decreased plasma carnitine, Increased muscle glycogen content, Macroglossia, Increased muscle lip... OMIM:500009
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatin... OMIM:615895
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased plasma carnitine, Increased muscle glycogen content, Macroglossia, Increased muscle lip... ORPHA:254864
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Rickets, Aminoaciduria, Glycosuria, Osteomalacia, Hypokalemia, ... OMIM:134600
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Lethargy, Elevated hepatic transaminase, Elevated plasma branched cha... ORPHA:2394
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia, Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Osteopenia, Nephrolit... OMIM:612287
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Acute kidney injury, Myoglobinuria OMIM:268200
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Wide nasal bridge, Hepatomegaly, Decreased liver function, Renal cyst, Colpocephaly OMIM:614870
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Azoospermia, Hepatomegaly, Anemia, Spl... OMIM:615234
Generalized Pseudohypoaldosteronism Type 1
Recurrent tonsillitis, Recurrent upper and lower respiratory tract infections, Hyponatremia, Incr... ORPHA:171876
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Short metatarsal, Hypoplasia of the nasal bone, Absent/hypoplastic paranasal sinuse... ORPHA:280651
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hyperbilirubinemia, Acute hepati... OMIM:613070
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Increased circulating renin level, Failure to thrive, Hyperkalemia OMIM:203400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase concent... OMIM:619048
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Hyperphosphaturia, Rickets, Osteomalacia, Bowing of the legs ORPHA:89937
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Decreased plasma total carnitine, Elevated hepatic transaminase, Red-bro... ORPHA:228305
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Pulmonary infiltrat... OMIM:607685
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Osteo... OMIM:612286
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated hepatic transaminase, Increased blood urea nitrogen, Elevat... OMIM:614817
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:306000
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Forearm undergrowth, Absent radius, Pulm... OMIM:251230
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Cerebral atrophy, Ataxia, Hepatomegaly, Hypertriglyceridemia, Hyperactivity OMIM:615924
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Cerebellar atrophy, Generalized amyotrophy, Nep... ORPHA:352447
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bowing of the legs, Vertebral hy... ORPHA:89936
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Pulmonary hypoplasia, Abnormal biliary... ORPHA:3032
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Underdeveloped nasal alae, Fibular duplication, Short foot, Synda... OMIM:135750
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Lethargy, Elevated hepatic transaminase, Reduced muscle carnitine lev... OMIM:212140
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Toe syndactyly, Talipes, Genu recurvatum, Reduced bone mineral density, Short m... ORPHA:2611
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Thrombocytopenia, Cerebral calcification, Microcephaly, Abnormality of the liver ORPHA:1980
Sandhoff Disease
Hepatomegaly, Recurrent respiratory infections, Ataxia, Splenomegaly ORPHA:796
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Glycogen Storage Disease Iii
Ventricular hypertrophy, Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly, Distal am... OMIM:232400
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Glycosuria, Osteoma... OMIM:227810
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Failure to thrive, Hyperkalemia OMIM:177735
Neuroleptic Malignant Syndrome
Hypocalcemia, Acute kidney injury, Hypernatremia, Hyponatremia, Elevated circulating creatine kin... ORPHA:94093
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Elevated hepatic transaminase, Wide nasal bridge, Hepatomegaly, Depressed nasal bridge,... OMIM:264470
Trimethylaminuria
Recurrent pneumonia, Depression, Neutropenia, Anemia, Splenomegaly, Trimethylaminuria OMIM:602079
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Cerebellar atrophy, Splenomegaly OMIM:618541
Coproporphyria, Hereditary
Depression, Hepatomegaly, Jaundice, Anxiety, Splenomegaly, Increased urinary porphobilinogen, Ele... OMIM:121300
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Short tibia, Ulnar bowing, Nephritis OMIM:127350
3-Methylglutaconic Aciduria Type 1
Dystonia, Hepatomegaly, Progressive cerebellar ataxia, Abnormality of the basal ganglia, Microcep... ORPHA:67046
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Abnormal hip bone morphology, Hyperphosphatemia, Obesity ORPHA:457059
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Renal salt wasting OMIM:614736
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Recurrent upper respiratory tract... OMIM:613101
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Splenomegaly, Hepatomegaly OMIM:615947
Combined Saposin Deficiency
Hepatomegaly, Hypoplasia of the corpus callosum, Abnormal periventricular white matter morphology... OMIM:611721
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Ata... ORPHA:42
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Hypersplenism, Leukopenia, Anemia, Bone-marrow foam... OMIM:278000
Cockayne Syndrome Type 3
Astrocytosis, Neurogenic bladder, Cerebral white matter atrophy, Hydroureter, Skeletal muscle atr... ORPHA:90324
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Elevated hepatic transaminase, Ataxia, Hepatomegaly, Decreased liver function... OMIM:246900
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Abnormality of the tarsal bones, Hyperph... ORPHA:352540
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Hepatomegaly, Hypertriglyceridemi... OMIM:300635
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... OMIM:237800
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Proteinuria, Hepato... ORPHA:369
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:444463
Dystonia-Aphonia Syndrome
Macroglossia, Abnormal vocal cord morphology, Gait disturbance, Cerebral atrophy, Unsteady gait, ... ORPHA:412217
Opsismodysplasia
Hypophosphatemia, Squared iliac bones, Renal phosphate wasting, Short nose, Rhizomelia, Metaphyse... OMIM:258480
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cerebral calcification, Elevated circulating creatine kinase concentration, Redu... ORPHA:157
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... OMIM:613673
Autosomal Dominant Hypocalcemia
Hypocalcemia, Reduced bone mineral density, Hypercalciuria, Hypermagnesiuria, Hypomagnesemia, Nep... ORPHA:428
Aicardi-Goutieres Syndrome 7
Dystonia, Cerebral atrophy, Hepatomegaly, Thrombocytopenia, Basal ganglia calcification, Nephroti... OMIM:615846
Dent Disease
Bulging epiphyses, Hematuria, Metaphyseal irregularity, Renal hypophosphatemia, Hypercalciuria, B... ORPHA:1652
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas... OMIM:614876
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Elevated creatine kinase after exercise, Myoglobinuria, Hyperkalemia, Hyperp... ORPHA:423
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Inability to walk, Macroglossia, Pachygyria, Congenital muscular dystrophy, Muscula... ORPHA:258
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Hyp... OMIM:616278
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Congenital Disorder Of Glycosylation, Type Ik
Cerebral atrophy, Flexion contracture, Hepatomegaly, Splenomegaly, Microcephaly, Cardiomyopathy OMIM:608540
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Camptodactyly, Short tibia, Hypoplasia of the epiglottis, Broad... OMIM:258865
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity... ORPHA:93325
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Lethargy, Neutropenia, Hepatomegaly, Thrombocytopenia, Pancreatitis, Splenomegaly, Anem... ORPHA:79312
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Dilated cardiomyopathy, Elevated hepatic transaminase, Macrovesicular hepatic steatosis... OMIM:600649
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cardiomegaly, Cerebral calcification, Elevated circulating creatine kinase conce... ORPHA:228308
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Elevated hepatic transaminase, Hepatomegaly, Decreased activity of mitochondrial comple... OMIM:619064
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Elevated hepatic transamina... OMIM:616860
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated hepatic transaminase ORPHA:158
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis, Glutaric aciduria, Decreased liver function, Skeletal muscle atrophy, Elevated circulati... ORPHA:26791
Congenital Disorder Of Glycosylation, Type Iik
Elevated hepatic transaminase, Abnormal cerebral white matter morphology, Hepatomegaly, Thrombocy... OMIM:614727
Autosomal Recessive Hypophosphatemic Rickets
Lower limb asymmetry, Renal phosphate wasting, Craniosynostosis, Abnormality of renal excretion, ... ORPHA:289176
Gaucher Disease Type 2
Dystonia, Flexion contracture, Hepatomegaly, Splenomegaly, Recurrent respiratory infections ORPHA:77260
Drug-Induced Lupus Erythematosus
Hematuria, Increased blood urea nitrogen, Pericarditis, Pericardial effusion, Thrombocytopenia, E... ORPHA:231111
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Dystonia, Lethargy, Ataxia OMIM:618224
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Rickets, Generalized aminoaciduria, Bowing of the long bones... ORPHA:2088
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Laryngospasm, Increased circulating renin level, Hyperca... OMIM:601198
Fibrous Dysplasia Of Bone
Abnormality of tibia morphology, Increased circulating cortisol level, Hypercalcemia, Thin bony c... ORPHA:249
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Niemann-Pick Disease, Type A
Inability to walk, Bone-marrow foam cells, Microcytic anemia, Elevated circulating alanine aminot... OMIM:257200
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Gaucher Disease, Type Iii
Depression, Decreased beta-glucocerebrosidase level, Ataxia, Hepatomegaly, Thrombocytopenia, Panc... OMIM:231000
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Muscular dystrophy, Camptodactyly, Pontocerebellar atrophy, Ataxia... OMIM:608799
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Difficulty walking, Abnormality of the mitochondrion, Oculogyric cri... ORPHA:330050
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Chondrocalcinosis, Osteomalacia, Hypercalcemia,... OMIM:600740
Cystic Echinococcosis
Abnormality of the peritoneum, Jaundice, Abnormality of the diaphragm, Eosinophilia, Hepatic cyst... ORPHA:400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Lethargy, Hepatocellular necrosis, Hepatic steatosis, Periportal fibr... OMIM:201475
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Aggressive behavior, Depression, Hyper... ORPHA:905
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Bulbous nose, Macrovesicular hepatic steatosis, Cardiomegaly, Renal in... OMIM:608836
Babesiosis
Renal insufficiency, Hemolytic anemia, Depression, Hepatomegaly, Jaundice, Thrombocytopenia, Hepa... ORPHA:108
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Organic aciduria, Hyperammonemia, Cardiomyopathy ORPHA:35
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Hyperkalemia ORPHA:757
Hodgkin Lymphoma
Ataxia, Hepatomegaly, Splenomegaly, Hemoptysis, Lymphadenopathy ORPHA:98293
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Azoospermia, Elevated hepatic transamina... OMIM:235200
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Abnormality of the metacarpal bones, Sandal gap, Micrognathia, De... ORPHA:1106
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Low alkaline phosphatase, Ataxia, Emotional lability, Hepatomegaly, Irritability, Splen... OMIM:201100
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Recurrent respiratory infections ORPHA:2432
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomega... OMIM:615285
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Cerebral atrophy, Hepatomegaly, Nephrotic ... OMIM:269920
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Weight loss, Abnormal spleen physi... ORPHA:398063
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Increased blood urea nitrogen, Difficulty walking, Gait disturbanc... ORPHA:90321
Mirage Syndrome
Overlapping fingers, Radial club hand, Rocker bottom foot, Talipes equinovarus, Microphallus, Hyp... OMIM:617053
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Neurogenic bladder, Interosseus muscle atrophy, Decreased activity of mitochondrial complex III, ... OMIM:500013
Microcephaly, Amish Type
Flexion contracture, Cerebellar hypoplasia, Hepatomegaly, Limb hypertonia, Irritability, Progress... OMIM:607196
Multiple Symmetric Lipomatosis
Hepatomegaly, Gait disturbance ORPHA:2398
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Ataxia, Hepatomegaly, Decreased activity of mitochondrial respiratory chain, Dilated ca... OMIM:614299
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Renal ... ORPHA:890
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Lethargy, Elevated hepatic transaminase, Rhabdomyolysis, Elevated cre... ORPHA:159
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Ataxia, Hepatomegaly, Hypospadias, Microcephaly, Hyperammonemia, Prominent nasal bridge, 3-Methyl... OMIM:604273
Multiple Acyl-Coa Dehydrogenase Deficiency
Pachygyria, Gliosis, Renal cortical cysts, Glutaric aciduria, Elevated circulating glutaric acid ... OMIM:231680
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hyperkalemia, Splenomegaly OMIM:608885
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Renal tubular acidosis,... OMIM:255120
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Atrial septal defect, Elevated hepatic transaminase, Ventricular septal defect, Hypopl... OMIM:614576
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephroti... OMIM:617713
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Skeletal muscle atrophy, Ventricular septal hypertrophy, Elevated circulati... ORPHA:370
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Galactose Mutarotase Deficiency
Hypergalactosemia, Cholestasis, Hepatomegaly, Decreased liver function, Abnormal enzyme/coenzyme ... ORPHA:570422
Galactosemia
Cirrhosis, Dystonia, Lethargy, Elevated hepatic transaminase, Increased level of galactitol in pl... ORPHA:352
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Hepatomegaly, Thrombocytopeni... ORPHA:848
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Metaphyseal irregularity, Polyuria, Aminoaciduria, Hepatomeg... OMIM:239200
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Aggressive behavior, Recurrent upper respiratory tract infections,... OMIM:252920
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Hyperam... OMIM:271500
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Adult-Onset Still Disease
Pleuritis, Elevated hepatic transaminase, Pericarditis, Leukocytosis, Myocarditis, Generalized ly... ORPHA:829
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reti... OMIM:274150
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Pneumonia, Lymphadenopathy, Histiocytosis, Hypoalbuminemia, Anemia,... OMIM:209950
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral white matt... ORPHA:543470
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Organic aciduria, Glutaric aciduria, Apathy, Abnormal cerebral white ... OMIM:246450
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Long penis, Short nose, Radioulnar synostosis, Preaxial foot polydact... ORPHA:1988
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Spli... OMIM:609945
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Hepatomegaly, Anemia, Renal insufficiency, Hyperammonemia ORPHA:28
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Hsd10 Disease, Infantile Type
Dystonia, Abnormal enzyme/coenzyme activity, Cerebral atrophy, Loss of ability to walk, Abnormali... ORPHA:391428
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Cerebral atrophy, Cerebellar hypoplasia, Ataxia, Hepatomegaly, Jaundice, Th... OMIM:613839
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Hepatomegaly, Thromb... ORPHA:507
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Underdeveloped nasal alae, Limb dupli... ORPHA:2378
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Thrombocytopenia, Ascites, Cardiomegaly, C... ORPHA:858
Niemann-Pick Disease, Type C1
Fatal liver failure in infancy, Bone-marrow foam cells, Dystonia, Neurofibrillary tangles, Fetal ... OMIM:257220
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Dysplastic Cortical Hyperostosis
Hepatomegaly, Microcephaly, Aplasia/Hypoplasia of the lungs, Splenomegaly ORPHA:2204
Hyperkalemic Periodic Paralysis
Flexion contracture, Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentratio... ORPHA:682
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... ORPHA:3344
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Abnormal aryepiglottic fold morphology, Short phalanx ... OMIM:268305
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Myopathy, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy OMIM:618234
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Prolonged neonat... OMIM:618892
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Hepatomegaly, Acute myeloid leukemia, Thrombocytopenia, Anemia, Splenomega... OMIM:133180
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Lethargy, Renal tubular dysfunction, Neutropenia, Hepatomegaly, Thrombocytopenia, Anemi... ORPHA:289916
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Elevated hepatic transaminase, Aggressive behavi... ORPHA:247585
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia, Acute kidney injury, Myoglobinuria ORPHA:57
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Abnormality of the extraocular muscles, Decreased muscle mass, Elevated hepatic transa... ORPHA:298
Pseudo-Torch Syndrome 1
Renal insufficiency, Pachygyria, Elevated hepatic transaminase, Cerebellar hypoplasia, Hepatomega... OMIM:251290
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses of the phal... OMIM:250215
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Lethargy, Medium chain dicarboxylic aciduria, Elevated hepatic transa... OMIM:201450
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Fulmi... OMIM:308240
Cystinosis
Hypophosphatemia, Rickets, Aminoaciduria, Nephropathy, Hypokalemia, Failure to thrive, Renal insu... ORPHA:213
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Microcephaly, Ataxia OMIM:612015
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Laryngotracheomalacia... ORPHA:56305
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Hepatomegaly, Jaundice, Pancytopenia, Splenomegaly, Pulmonary infi... ORPHA:79477
Farber Lipogranulomatosis
Hepatomegaly, Irritability, Lipogranulomatosis, Splenomegaly OMIM:228000
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Spleno... OMIM:612526
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Weight loss, Hypercalciuria, Renal sodium wasting, Chronic kidney di... ORPHA:3337
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Ataxia, Hepatomegaly, Thrombocytopenia, Leukopenia, Anemia, Pancreatitis, Renal insuffi... ORPHA:27
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Elevated total serum tryptase, Hepatomegaly, Splenomega... ORPHA:98848
Classic Galactosemia
Dystonia, Lethargy, Elevated hepatic transaminase, Depression, Gait disturbance, Ataxia, Hepatome... ORPHA:79239
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Macroglossia, Microcytic anemia, Difficulty walking, Rhabdomyolysis, Neutropenia, Hepatomegaly, E... OMIM:251900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Hyperglycinemia, Abnormal globus pallidus morphology, Hepatomegaly, Thrombocytopenia, T... OMIM:251000
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Bronchiectasis, Recu... OMIM:607594
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Omphalocele, Tibial bowing, Abnormally ossified vertebra... ORPHA:3035
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Gait ataxia, Hepatic steatosis, Cerebral atrophy, Ataxia, Hepatomegaly, Hypertriglycer... ORPHA:363400
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Distal renal tubular acidosis, Hypercalciuria, Hypokalemia, Failure to thrive, Nephrocal... OMIM:602722
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Hypermanganesemia With Dystonia 1
Cirrhosis, Increased total iron binding capacity, Dystonia, Elevated hepatic transaminase, Polycy... OMIM:613280
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly... OMIM:256550
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Omphalocele, Interphalangeal joint con... ORPHA:96334
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Recurrent upper respiratory tract infections, Heparan sulfate excr... OMIM:252900
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Renal insufficienc... ORPHA:650
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Cirrhosis, Dilated cardiomyopathy, Elevated hepatic transaminas... ORPHA:367
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent nasal bridge, Laryngeal hypoplasia, Decreased calvarial ossification, Preaxial polydactyly... OMIM:617925
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal mitral valve morphology, Gait disturbance, Nephrop... ORPHA:1192
Sialuria
Elevated hepatic transaminase, Abnormality of the mitochondrion, Cholelithiasis, Wide nasal bridg... ORPHA:3166
Omodysplasia 1
Hypoplastic distal humeri, Short nose, Limited knee extension, Rhizomelia, Umbilical hernia, Wide... OMIM:258315
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Hepatomegaly, Skeletal muscle atrophy, Pulmon... OMIM:615704
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Dystonia, Lethargy, Hyperglycinemia, Cerebral atrophy, Neut... OMIM:606054
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperglutaminemia, Lethargy, Ataxia, Emotional lability, Acute hyperammonemia, Hepatomegaly, Hype... ORPHA:927
Mevalonic Aciduria
Fluctuating hepatomegaly, Normocytic hypoplastic anemia, Elevated hepatic transaminase, Underdeve... OMIM:610377
Hydrocephalus With Associated Malformations
Omphalocele, Tibial bowing, Pulmonary hypoplasia, Lower limb undergrowth, Short lower limbs, Micr... OMIM:236640
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Rickets, Distal renal tubular acidosis, Isothenuria, Hypokalemia, Failure to th... OMIM:611590
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Mildly elevated creatine kinase, Lower limb muscle weakness, Mitoch... ORPHA:397744
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Hematuria, Proteinuria OMIM:614034
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Congenital Disorder Of Glycosylation, Type Il
Short nose, Pericardial effusion, Hepatomegaly, Cerebellar atrophy, Ascites, Polycystic kidney dy... OMIM:608776
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Hepatic lobular inflammation, El... ORPHA:101330
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Dystonia, Elevated hepatic transaminase, Abnormal abdomen morphology... OMIM:216360
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Dystonia, Neurofibrillary tangles, Fetal ascites, Ataxia, Hepatomegaly, P... OMIM:607625
Leigh Syndrome
Dystonia, Gliosis, Decreased activity of mitochondrial complex III, Diffuse spongiform leukoencep... ORPHA:506
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Renal insufficiency, Atrial septal defect, Elevated hepati... ORPHA:1667
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Neutropenia, Hypoalbuminemia, Cerebral calcification, Leukopeni... OMIM:617303
Familial Hypoaldosteronism
Hyponatremia, Renal salt wasting, Increased circulating renin level, Proximal renal tubular acido... ORPHA:427
Roifman Syndrome
Noncompaction cardiomyopathy, Underdeveloped nasal alae, Ventricular septal defect, Lymphadenopat... OMIM:616651
Manganese Poisoning
Dystonia, Inappropriate laughter, Aggressive behavior, Akinesia, Depression, Hypersexuality, Impa... ORPHA:306682
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Hemolytic anemia, Albuminuria, Incre... OMIM:230400
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Bronchiectasis, Increas... OMIM:615513
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Sialidosis Type 2
Flexion contracture, Ataxia, Nephropathy, Hepatomegaly, Ascites, Skeletal muscle atrophy, Splenom... ORPHA:87876
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Elevated hepatic transaminase, Hepatomegaly, Renal tubular acidosis, Hepatic failure, S... ORPHA:156
Renal Tubular Acidosis Iii
Bicarbonate-wasting renal tubular acidosis, Rickets, Osteomalacia, Hypokalemia, Nephrocalcinosis,... OMIM:267200
Autosomal Dominant Progressive External Ophthalmoplegia
EMG: myopathic abnormalities, Hypomimic face, Abnormality of the mitochondrion, Nocturia, Shoulde... ORPHA:254892
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Bronchiectasis, Autoimmune thrombocytopenia, Decreased proportion of CD4-po... OMIM:300853
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Ventricular hypertrophy, Elevated hepatic transaminase, Hepatic steatosis, Rhabdomyolys... OMIM:212138
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Jaundice, Thrombocytopenia, Anemia... ORPHA:290
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Femoral bowing, Talipes equinovarus, Absent tibia, Enlarged kidney, Preaxial polydactyly, Cone-sh... OMIM:613091
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Birk-Landau-Perez Syndrome
Renal insufficiency, Tubulointerstitial nephritis, Hyperkalemia OMIM:617595
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Hepatocellular carcinoma, Hep... OMIM:601847
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Ascites, Aplastic anemia, Sple... OMIM:615122
Raine Syndrome
Hypophosphatemia, Enamel hypoplasia, Arthrogryposis multiplex congenita, Short nose, Hydroureter,... OMIM:259775
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Short mandibular rami, Short metatarsal, Bulbous nose, Short phalanx of finger... OMIM:170390
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hyperbilirubinemia, Hepatomegaly, Jaundi... OMIM:235555
Hypophosphatemic Rickets
Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypocalciuria, Rickets, Craniofacia... ORPHA:437
Poikiloderma With Neutropenia
Recurrent pneumonia, Recurrent sinusitis, Increased circulating lactate dehydrogenase concentrati... OMIM:604173
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dystonia, Lacticaciduria, Dilated cardiomyopathy, Decreased activity of mitochondrial complex II,... OMIM:619167
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate, Progressive microcephaly, Organic aciduria OMIM:614741
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Cerebral atrophy, Hepatomegaly, P... OMIM:259720
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Recurrent upper respiratory tract infections, Lymph node h... OMIM:602450
Neonatal Lupus Erythematosus
Hemolytic anemia, Elevated hepatic transaminase, Dilated cardiomyopathy, Abnormal heart morpholog... ORPHA:398124
Aicardi-Goutieres Syndrome 1
Dystonia, Elevated hepatic transaminase, Cerebral atrophy, Progressive microcephaly, Hepatomegaly... OMIM:225750
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612926
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypomagnesiuria, Hypocalciuria, Chondrocalcinosis, Renal hypophosphatemia, Osteo... ORPHA:405
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Elevated circul... ORPHA:53035
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypospadias, Aplasia/Hypoplasia of the lungs, Ascites, Anemia, Splenom... ORPHA:1046
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatomegaly, Jaundice, Hepatitis, Hepatic failure, Nephrotic syndrome ORPHA:60
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Hypercalcemia, Abnormality of the lymph nodes ORPHA:33111
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Conjugated hyperbilirubinemia, Hepat... OMIM:619232
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal renal physiology, Elevat... ORPHA:540
Griscelli Syndrome
Abnormality of neutrophils, Abnormal circulating lipid concentration, Ataxia, Hepatomegaly, Jaund... ORPHA:381
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepato... OMIM:211600
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Pneumonia, Hepatomegaly, Hypoplasia of the thymus, Thr... OMIM:603554
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Abnormal circulating lipid concentration, Hepatic steatosis OMIM:615238
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Pseudo-Torch Syndrome 2
Lethargy, Elevated hepatic transaminase, Cerebellar hypoplasia, Hepatomegaly, Thrombocytopenia, P... OMIM:617397
Congenital Disorder Of Glycosylation, Type Ih
Abnormal heart morphology, Camptodactyly, Cholestasis, Hepatomegaly, Thrombocytopenia, Decreased ... OMIM:608104
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... OMIM:615415
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Emphysema, Abnormal pulmonary interstitial ... OMIM:612387
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Cerebellar hypoplasia, Hepatomegaly, Ectopic kidney, Secondary microcephaly OMIM:613730
Pyruvate Carboxylase Deficiency
Basal ganglia gliosis, Dystonia, Cerebral white matter atrophy, Increased caudate lactate level, ... ORPHA:3008
Familial Parathyroid Adenoma
Hypophosphatemia, Calcium nephrolithiasis, Renal insufficiency, Hyperphosphaturia, Hypercalciuria... ORPHA:99877
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Ventricular septal defect, Cerebellar vermis hypoplasia, Cholestasis, Hepatic f... OMIM:615630
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Elevated total serum tryptase, Depression, Renal ... ORPHA:94059
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative ... ORPHA:251004
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Diffuse pancreatic islet hyperplasia, Hepatomegaly, Increased C-peptide level, Decrease... ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 11
Lethargy, Pachygyria, Renal hypoplasia, Hepatic steatosis, Hypoplasia of the corpus callosum, Hep... OMIM:614922
Niemann-Pick Disease Type C
Dystonia, Axial dystonia, Jaundice, Low frustration tolerance, Cerebellar vermis atrophy, Bone-ma... ORPHA:646
Mccune-Albright Syndrome
Hypophosphatemia, Renal phosphate wasting, Increased circulating cortisol level, Hyperphosphaturi... ORPHA:562
Free Sialic Acid Storage Disease
Gait disturbance, Ataxia, Hepatomegaly, Nephrotic syndrome, Ascites, Splenomegaly, Aplasia/Hypopl... ORPHA:834
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Choreoacanthocytosis
Hair-pulling, Emotional lability, Head-banging, Cerebral cortical atrophy, Progressive inability ... ORPHA:2388
Sea-Blue Histiocytosis
Hepatomegaly, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Recurrent bronchiolitis, B lymphocytopenia, ... OMIM:619164
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Diffuse pancreatic islet hyperplasia, Hepatomegaly, Increased C-peptide level, Focal pa... ORPHA:276575
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic s... ORPHA:264580
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Neuronal loss in the cerebral cortex, Hepatomegaly, Hyperalaninemia, Pe... OMIM:266150
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Preaxial hand polydactyly, Abnormal... OMIM:263520
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cirrhosis, Lethargy, Decreased muscle mass, Abnorma... ORPHA:465508
Legionnaires Disease