Gene Summary

Name:
heparan-alpha-glucosaminide N-acetyltransferase
Synonyms:
D8Ertd354e,  9430010M12Rik,  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
decreased circulating serum albumin level Hgsnatem4(IMPC)Tcp HOM   Early adult 6.67×10-05
decreased exploration in new environment Hgsnatem4(IMPC)Tcp HOM Early adult 6.63×10-05
abnormal cholesterol homeostasis Hgsnatem4(IMPC)Tcp HOM   Early adult 7.99×10-05
increased bone mineral content Hgsnatem4(IMPC)Tcp HOM Early adult 1.07×10-05
decreased total body fat amount Hgsnatem4(IMPC)Tcp HOM Early adult 1.26×10-11
increased circulating phosphate level Hgsnatem4(IMPC)Tcp HOM Early adult 9.41×10-05
enlarged urinary bladder Hgsnatem4(IMPC)Tcp HOM Early adult 0.00
increased circulating potassium level Hgsnatem4(IMPC)Tcp HOM Early adult 3.11×10-07
abnormal lung morphology Hgsnatem4(IMPC)Tcp HOM Early adult 0.00
increased startle reflex Hgsnatem4(IMPC)Tcp HOM Early adult 1.55×10-06
enlarged lymph nodes Hgsnatem4(IMPC)Tcp HOM Early adult 0.00
increased lean body mass Hgsnatem4(IMPC)Tcp HOM Early adult 1.74×10-06
increased circulating alkaline phosphatase level Hgsnatem4(IMPC)Tcp HOM Early adult 2.64×10-05
short tibia Hgsnatem4(IMPC)Tcp HOM Early adult 4.42×10-05

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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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Histopathology

Images

11 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

Immunophenotyping

Panel B FCS file(s)

6 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.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mucopolysaccharidosis, Type Iiic
Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Splenomegaly, H... OMIM:252930
Retinitis Pigmentosa
Obesity ORPHA:791
Retinitis Pigmentosa 73
OMIM:616544

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Hypocalcemia, Brachydactyly, Recu... OMIM:618618
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Short toe, Short finger, Low urinary cyclic AMP response to PTH administration... OMIM:103580
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Obesity, Hypocalcemia, ... OMIM:603233
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Ob... OMIM:612462
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Laryngeal dystonia, Low urinary cyclic AMP response to PTH adminis... ORPHA:94089
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Splenomegaly, Ataxia ORPHA:2274
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... OMIM:619868
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Depression, Hyperphosphatemia, Laryngeal dystonia, Confusion, Hypocalcem... ORPHA:36913
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:94090
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Astrocytosis, Irritability, Disinhibition, Aggressi... ORPHA:275864
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Irritability, Hypocalcemic seizures OMIM:146200
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly, Hypoplasia of the femoral head, Wei... OMIM:209950
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis, Obesity, Cardiomegaly ORPHA:88643
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Difficulty walking, Hyperglycinemia, Hypomimic face, Hepatomegaly, Jaundice, Bradykinesia, Polycy... ORPHA:309854
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Calcinosis, Short metac... ORPHA:79444
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, B... OMIM:619073
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Failure to thrive, Hydroxyprolinuria, Hyperuricemia, Lateral femor... OMIM:239000
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc... ORPHA:457050
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, ... OMIM:617872
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:603278
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Astrocytosis, Disinhibition, Aggressive behavior, Gait disturbance, Urina... OMIM:600795
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Mental deterioration, Pes cavus, Tremor, Elevated circulating creatine kinase co... OMIM:208920
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Calcinosis, Short metac... ORPHA:79443
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr... OMIM:620632
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Blue Diaper Syndrome
Nephrocalcinosis, Hyperphosphatemia, Increased body weight, Blue urine, Hypercalcemia ORPHA:94086
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Ri... OMIM:307800
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Depression, Astrocytosis, Restlessness ORPHA:100070
Nephrotic Syndrome, Type 9
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to... OMIM:613752
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Pes cavus, Hypercholesterolemia, Distal lower limb muscle weakness ORPHA:94124
Fibular Hemimelia
Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e... ORPHA:93323
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Micrognathia, Hypocalcemia, Short foot, Mic... OMIM:241410
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Familial Infantile Bilateral Striatal Necrosis
Upper limb muscle weakness, Lower limb muscle weakness, Astrocytosis, Gait ataxia, Loss of ambula... ORPHA:225154
Calciphylaxis
Cellulitis, Ectopic ossification, Stage 5 chronic kidney disease, Hyperphosphatemia ORPHA:280062
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Barth Syndrome
Dilated cardiomyopathy, Abnormality of neutrophils, Endocardial fibroelastosis, Abnormal mitochon... ORPHA:111
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Proteinuria, Membranoprolif... OMIM:615008
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, F... OMIM:300554
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Recurrent respiratory infections, Abnormal ... ORPHA:2323
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures ORPHA:2239
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Pes cavus, Hypercholesterolemia OMIM:607250
Dna2-Related Mitochondrial Dna Deletion Syndrome
Depression, Difficulty walking, Decreased mitochondrial number, Multiple joint contractures, Myop... ORPHA:352470
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Generalized aminoaciduria, Subperiosteal bone resorption, Ricket... OMIM:264700
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatosplenomegaly, Arachnodactyly, Hypertriglyceridemia, Abnormal pulmonary int... OMIM:619013
Diarrhea 13
Hypoalbuminemia, Failure to thrive OMIM:620357
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Failure to thrive, Bulging epiphyses, Fibular bowing, F... OMIM:600081
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Delayed epiphyseal ossification, Rickets, Failu... OMIM:241530
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia, Proteinuria, Nephrotic syndrome OMIM:614652
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy OMIM:609016
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Cognitive impairment, Dystonia, Elevated circulat... OMIM:616267
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P... OMIM:618349
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Hyperphosphatemia, Calvarial hyperostosis, Long hallux, Cone-shaped ep... OMIM:101800
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Umbilical hernia, ... OMIM:300555
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Emphysema, Hypophosphatemic rickets, Stage 5 chronic kidney disease, G... OMIM:618913
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Diffuse alveolar hemorrhage, Failure to thrive, Increased circulating ferritin c... OMIM:616050
Citrullinemia Type Ii
Hypoalbuminemia, Memory impairment, Decreased body mass index, Enuresis, Decreased HDL cholestero... ORPHA:247585
Immunodeficiency 43
Hypoalbuminemia, Radial bowing, Decreased circulating beta-2-microglobulin level, Lung abscess, H... OMIM:241600
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Nephrolithiasis, Polyuria, Calva... OMIM:617994
Fibronectin Glomerulopathy
Hypoalbuminemia, Renal insufficiency, Proteinuria, Nephrotic syndrome, Microscopic hematuria, Ped... ORPHA:84090
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex, Decreased ... OMIM:618378
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Abnormal hip bone morphology, Gen... ORPHA:93160
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, F... OMIM:300009
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Bulgi... OMIM:277440
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Hypocalcemia... ORPHA:428
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Hyperphosphatemia, Hyperostosis, Decreased renal tubular phosphate excretion, I... OMIM:211900
Neuroleptic Malignant Syndrome
Urinary incontinence, Acute kidney injury, Oculogyric crisis, Hyperphosphatemia, Aspiration pneum... ORPHA:94093
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Depression, Abnormal upper motor neuron morphology, Disinhibition, Abnorm... ORPHA:275872
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Aggressive behavior, Elevated circulating tiglylglycine concentratio... OMIM:300438
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Clinodact... OMIM:616730
Immunodeficiency 32B
Pneumonia, Hypoalbuminemia, Failure to thrive, Splenomegaly, Hepatomegaly, Recurrent respiratory ... OMIM:226990
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Chronic k... ORPHA:656
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Focal segmental glomerulosclerosis, Clinodactyly of the 5th finger, Decreased bo... OMIM:618347
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy, Hepatomegal... OMIM:608776
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Head tremor, Postural tremor, Elevated ci... ORPHA:64753
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Recurrent lower re... ORPHA:86816
Alg6-Cdg
Hypoalbuminemia, Failure to thrive, Decreased LDL cholesterol concentration, Brachydactyly, Short... ORPHA:79320
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Difficulty walking, Inability to walk, Astrocytosis, Atrial septal defect, Faci... OMIM:611087
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Sideroblast... OMIM:613561
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... ORPHA:356961
Neutrophilia, Hereditary
Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia OMIM:162830
Spastic Paraplegia Type 7
Cerebellar atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fib... ORPHA:99013
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... ORPHA:567548
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Genu valgum, Hypomature enamel, Hematuria, Macroscopic... OMIM:248250
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Elevated circulating aspartate aminotransferase concentration, Decreased activity of mitochondria... OMIM:615158
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Astrocytosis, Gliosis, Ataxia ORPHA:204
Nephrotic Syndrome, Type 6
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c... OMIM:614196
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Abnormal spleen physiology, Hypocalcemia, Hypophosphatemia, Weig... ORPHA:398063
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Skeletal muscle atrophy, Cerebellar... OMIM:616719
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Vesi... OMIM:619217
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Recurrent pharyngitis, Elevated cir... OMIM:308240
Inherited Creutzfeldt-Jakob Disease
Depression, Astrocytosis, Gait ataxia, Emotional lability, Irritability, Bradykinesia, Progressiv... ORPHA:282166
Linear Verrucous Nevus Syndrome
Genu recurvatum, Mental deterioration, Toe syndactyly, Talipes, Hypophosphatemia, Reduced bone mi... ORPHA:2611
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Generalized aminoaciduria, Subperiosteal bone resorption, Ricket... ORPHA:289157
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormality of the pancreas, Abn... ORPHA:3032
Nephrotic Syndrome, Type 3
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:603553
Congenital Disorder Of Glycosylation, Type Ig
Recurrent upper respiratory tract infections, Recurrent pneumonia, Rhizomelia, Failure to thrive,... OMIM:607143
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened... OMIM:127000
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Syndactyly, Short tibia, Polydactyly OMIM:300484
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive ORPHA:1954
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... OMIM:620306
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormality of neutrophils, Cerebellar atrophy, Recurrent respirat... ORPHA:2585
Leishmaniasis
Hypoalbuminemia, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:507
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,... OMIM:256300
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hypopho... OMIM:616963
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal ... ORPHA:556037
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, J... OMIM:230350
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Mitochondrial Myopathy, Infantile, Transient
Decreased circulating carnitine concentration, Ragged-red muscle fibers, Increased muscle lipid c... OMIM:500009
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Abnormality of the liver, Ragged-red muscle fibers... ORPHA:254864
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Increased mitochondrial number, Decreased activity of mitochond... OMIM:619063
Hypophosphatemic Bone Disease
Osteomalacia, Hypophosphatemia, Rickets, Bowing of the legs OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Rickets, Osteomalacia, Hypophosphatemic rickets, Abnormality of the lowe... OMIM:193100
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Cerebellar at... OMIM:203700
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Hemochromatosis, Type 2A
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... OMIM:602390
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Medullary nephroca... ORPHA:157215
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal ... ORPHA:556030
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Hyperaldosteronism, Hyponatremia, Renal salt wasting, Recurrent respiratory in... OMIM:264350
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Generalized Pseudohypoaldosteronism Type 1
Recurrent tonsillitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldo... ORPHA:171876
Interstitial Nephritis, Karyomegalic
Elevated circulating hepatic transaminase concentration, Nephronophthisis, Glycosuria, Renal tubu... OMIM:614817
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... OMIM:278000
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Proximal tubulopathy, Failure to thrive, Renal cyst, Lymphangiectasis, Hepatomeg... OMIM:602579
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, T... OMIM:235510
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Polyphagia, Hypervalinemia, Increased blood urea nitrogen, Hyper... OMIM:620085
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin... OMIM:618528
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia, Failure to thrive OMIM:143860
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Reni Syndrome
Hypoalbuminemia, Mental deterioration, Focal segmental glomerulosclerosis, Steroid-resistant neph... OMIM:617575
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Hepatomegaly, Failure to thrive in infancy OMIM:618805
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:203400
Immunodeficiency 104
Pneumonia, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Recurrent pneumonia, Nephritis, Bone marrow ... OMIM:617303
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Sandhoff Disease
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Ataxia ORPHA:796
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Elevated circulating aspartate aminotransferase concentration, Decreased... OMIM:619048
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Familial Isolated Hyperparathyroidism
Osteopenia, Nephrocalcinosis, Chondrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophos... ORPHA:99879
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Elevated circulating hepatic transaminase concentration, Increased circulatin... OMIM:619644
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Inability to walk, Atelectasis, ... ORPHA:258
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ... OMIM:613490
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Hyperostosis, Clubbing, Periostosis OMIM:614441
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Nephrocalcinosis, Metaphyseal cupping, Micrognathia, Hyperphosphaturia, Hip contractu... OMIM:156400
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Abnormal heart morph... ORPHA:79333
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Dicarboxylic aciduria, Hypertrophi... OMIM:212140
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Intestinal lymphangiectasia, Hepatomegaly, Recurrent lower respiratory tract inf... OMIM:226300
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Hepatomegaly, ... OMIM:608104
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Anorexia, Renal insufficiency, Splenomegaly, Hyperammonemia, Lethargy, Anemia, Pa... ORPHA:79312
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:268200
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated ... OMIM:613489
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Alg1-Cdg
Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency ORPHA:79327
Trimethylaminuria
Recurrent pneumonia, Depression, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia OMIM:602079
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... ORPHA:42
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Mental deterioration, Nephropathy, Focal segmental glomerulosclerosis, Postural ... OMIM:254900
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Alg12-Cdg
Hypoalbuminemia, Recurrent pneumonia, Failure to thrive, Sandal gap, Hypocholesterolemia, Overlap... ORPHA:79324
Glycogen Storage Disease Iii
Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio... OMIM:232400
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Lympha... ORPHA:158061
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Intestinal lymphangiectasia, Pleural effusion, Hypocalcemia, Abn... ORPHA:90362
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
Combined Oxidative Phosphorylation Deficiency 1
Cholestasis, Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mito... OMIM:609060
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy... OMIM:300635
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration... OMIM:620366
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular... ORPHA:369840
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia, Bowing of the legs ORPHA:89937
X-Linked Hypophosphatemia
Cellulitis, Renal phosphate wasting, Genu valgum, Bowing of the long bones, Hypophosphatemia, Ver... ORPHA:89936
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft... ORPHA:423
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:369
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ... ORPHA:158057
Mcleod Syndrome
Elevated gamma-glutamyltransferase level, Depression, Increased circulating lactate dehydrogenase... OMIM:300842
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Abnormal circulating homocysteine concent... ORPHA:88618
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Decreased activity of mitochondrial comp... OMIM:619064
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Conf... ORPHA:340
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthr... ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co... OMIM:613101
Nephronophthisis 2
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:602088
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Oncogenic Osteomalacia
Renal phosphate wasting, Abnormal foot morphology, Abnormality of the tarsal bones, Abnormal femu... ORPHA:352540
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Palmoplantar keratoderma, Failure to thrive, Increased serum bile acid concentra... OMIM:242150
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Sea-blue histiocytosis, Ascites, Elevated circulating aspartate aminotra... OMIM:257200
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... ORPHA:90324
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor OMIM:609153
Myopathy With Extrapyramidal Signs
Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Diff... OMIM:615673
Dent Disease
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossif... ORPHA:1652
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased circulating carnitine concentration, Rhabdomyolysis, Hepatomegaly, Dysphagia, Polycysti... ORPHA:26791
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Chondrocalcinosis, Depression, Hypocalciuria, Multiple small medullary renal cys... OMIM:600740
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Nephrotic Syndrome, Type 8
Hypoalbuminemia, Chronic kidney disease, Stage 5 chronic kidney disease, Proteinuria, Diffuse mes... OMIM:615244
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Decreased skull ossification, Stenosis of the medullary c... ORPHA:93325
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Failure to thrive, Hepatosplenomegaly, Stage 5 chronic kidney disease, Renal ins... OMIM:619487
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Hematuria, Increased blood urea nitrogen, Ele... ORPHA:231111
Wolman Disease
Acute hepatic failure, Hepatomegaly, Reduced lysosomal acid lipase activity, Splenomegaly OMIM:620151
Liver Failure, Infantile, Transient
Hypoalbuminemia, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Irrit... OMIM:613070
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Respiratory tract infection, L... ORPHA:444463
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:600649
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Pr... OMIM:613845
Glycogen Storage Disease Ixb
Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Reduced hepatic ph... OMIM:261750
Combined Oxidative Phosphorylation Deficiency 19
Elevated gamma-glutamyltransferase level, Increased variability in muscle fiber diameter, Mitocho... OMIM:615595
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Osteopenia, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Osteop... OMIM:612287
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Cerebellar atrophy, Hypertrophic cardiomyopathy, ... OMIM:604377
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypertrophic c... OMIM:246900
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Proximal tubulopathy, Failure to thrive, Hypocholesterolemia, Tremor... OMIM:212065
Fanconi Renotubular Syndrome 1
Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi... OMIM:134600
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Osteopenia, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hyperc... OMIM:612286
Mpi-Cdg
Hypoalbuminemia, Hepatomegaly, Failure to thrive ORPHA:79319
Coproporphyria, Hereditary
Depression, Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Elevated ur... OMIM:121300
Wolcott-Rallison Syndrome
Hypoalbuminemia, Chronic kidney disease, Hyperbilirubinemia, Renal insufficiency, Hyperammonemia,... ORPHA:1667
Aicardi-Goutieres Syndrome 6
Splenomegaly, Irritability, Loss of ambulation, Thrombocytopenia, Hepatomegaly, Hemolytic anemia OMIM:615010
Barth Syndrome
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Hypertrophic cardiomyopat... OMIM:302060
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Avian Influenza
Pneumonia, Hypoalbuminemia, Acute kidney injury, Pleural effusion, Elevated circulating creatine ... ORPHA:454836
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Steatorrhea, Weight loss, Hypoalbuminemia ORPHA:2070
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Cerebellar atrophy, Decreased mitochondrial number, Ragged-red muscle fib... ORPHA:352447
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... OMIM:620076
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Lymphadenopathy, Hyp... ORPHA:540
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypoalbuminemia, Cellulitis, Fasciitis, Confusion, Elevated circulating creatinine con... ORPHA:36234
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Recurrent upper respiratory tract infections, Hypomagnesemia, Micrognathia, Pleu... OMIM:618183
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia OMIM:615924
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Glut1 Deficiency Syndrome 2
Reticulocytosis, Splenomegaly, Reduced haptoglobin level, Irritability, Ataxia, Hemolytic anemia,... OMIM:612126
Babesiosis
Hepatic failure, Depression, Leukopenia, Renal insufficiency, Splenomegaly, Recurrent pharyngitis... ORPHA:108
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Failure to thrive, Hepatosplenomegaly, Hepatomegaly, Flexion contracture ORPHA:367
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Failure to thrive, Beta 2-microglobulinuria, ... OMIM:227810
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Osteopenia, Proximal tubulopathy, Rickets, Gl... OMIM:613388
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Pancytopenia, Hepato... OMIM:610333
Mirage Syndrome
Rocker bottom foot, Microphallus, Aspiration pneumonia, Radial club hand, Overlapping fingers, De... OMIM:617053
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Osteopenia, Rickets, Failure to thrive,... ORPHA:2088
Generalized Pustular Psoriasis
Hypoalbuminemia, Obesity, Renal insufficiency, Hypocalcemia, Hyponatremia, Elevated circulating C... ORPHA:247353
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Hyperk... OMIM:614736
Cockayne Syndrome Type 1
Elevated circulating hepatic transaminase concentration, Foot joint contracture, Difficulty walki... ORPHA:90321
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Mitochondrial Complex I Deficiency, Nuclear Type 13
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Irritability, Decreas... OMIM:618235
Fibrous Dysplasia Of Bone
Lower limb asymmetry, Increased circulating cortisol level, Rickets, Osteomalacia, Abnormal tibia... ORPHA:249
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... OMIM:306000
Gaucher Disease Type 2
Recurrent respiratory infections, Splenomegaly, Hepatomegaly, Flexion contracture, Dysphagia ORPHA:77260
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome... ORPHA:567546
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Hypoalbuminemia, Nephrotic syndrome, Hypomagnesemia, Failure to thrive in infancy, Int... ORPHA:37042
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Birk-Landau-Perez Syndrome
Renal hypoplasia, Failure to thrive in infancy, Stage 3 chronic kidney disease, Renal insufficien... OMIM:617595
Wilson Disease
Hypouricemia, Osteomalacia, Hyperbilirubinemia, Limb dystonia, Hepatomegaly, Decreased circulatin... OMIM:277900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Decreased activity of mitochondrial complex IV, H... ORPHA:17
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly, Aminoaciduria ORPHA:79238
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Renal phosphate wasting, Abnormal trabecular bone morphology, Pseudo-frac... ORPHA:289176
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Splenomegaly, C... OMIM:252920
Propionic Acidemia
Organic aciduria, Cardiomyopathy, Propionyl-CoA carboxylase deficiency, Hyperammonemia, Hepatomegaly ORPHA:35
Carnitine Palmitoyltransferase Ii Deficiency
Myopathy, Agenesis of corpus callosum, Rhabdomyolysis, Myoglobinuria, Reduced tissue carnitine O-... ORPHA:157
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Rena... ORPHA:890
Immunodeficiency 114, Folate-Responsive
Cerebellar atrophy, Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Mega... OMIM:620603
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Depression,... ORPHA:89842
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bones, Short tibia, Finger synda... ORPHA:1106
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Gaucher Disease, Type Iii
Depression, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia... OMIM:231000
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Methylmalonic aciduria, Hypersegmentation of neutrophil nuclei, Increase... OMIM:615578
Cystic Echinococcosis
Peritoneal abscess, Elevated gamma-glutamyltransferase level, Pulmonary cyst, Hyperbilirubinemia,... ORPHA:400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial pol... OMIM:616300
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Hyperkalemia ORPHA:757
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hyperglycinemia, Decreased activity of mitoc... OMIM:614299
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Flexion contractur... ORPHA:682
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica... OMIM:201475
Cystinosis
Nephropathy, Aminoaciduria, Rickets, Failure to thrive, Renal insufficiency, Renal tubular dysfun... ORPHA:213
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst, Colpocephaly, Decreased liver function OMIM:614870
Immunodeficiency 48
Pneumonia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohema... OMIM:269840
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Heme Oxygenase 1 Deficiency
Nephritis, Diffuse alveolar hemorrhage, Increased circulating lactate dehydrogenase concentration... OMIM:614034
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Orofaciodigital Syndrome Ix
Toe syndactyly, Short tibia, Hand polydactyly, Camptodactyly, Recurrent aspiration pneumonia OMIM:258865
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Xfe Progeroid Syndrome
Hypoalbuminemia, Failure to thrive, Corneal scarring, Pes cavus, Absence of subcutaneous fat, Ren... OMIM:610965
Galactose Mutarotase Deficiency
Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep... ORPHA:570422
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Irritability, Lethargy, Decreased activity of mitochondrial complex I, Ataxia... OMIM:618226
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Opsismodysplasia
Renal phosphate wasting, Hypoplastic ischia, Rhizomelia, Hypoplasia of the odontoid process, Meta... OMIM:258480
Wilson Disease
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:905
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Muscular dystrophy, Elevated circulating hepatic transaminase concentr... OMIM:608799
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Ventricular hypertrophy, Elevated ci... OMIM:212138
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly, Anorexia ORPHA:86893
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia, Lethargy, Anemia, Hepatomegaly ORPHA:28
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Confusion, Hypocalcemia, Elevated circulating c... ORPHA:466650
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Rickets, Glycosuria, Large for gestational age, Hy... OMIM:616026
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio... OMIM:222470
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary... OMIM:619743
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Lethargy, Ane... ORPHA:27
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Focal segmental glomerulosclerosis, Joint contracture of the hand, Hand clenchin... OMIM:251300
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:159
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Failure to thrive, Stage 5 chronic kidney disease, Micrognathia, Hiatus hernia, ... OMIM:617729
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Hyperammonemia, Hydronephrosis, Decreased serum zinc, Conjuga... OMIM:617093
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Hematuria, Small for gestational age OMIM:617021
Microcephaly, Amish Type
Cerebellar vermis hypoplasia, Irritability, Cerebellar hypoplasia, Limb hypertonia, Hepatomegaly,... OMIM:607196
Galactosemia I
Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Decreased liver fu... OMIM:230400
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly, Aminoaciduria ORPHA:417
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Palmoplantar keratoderma, Failure to thrive, Recurrent respiratory infections, H... OMIM:615508
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Hepatic steatosis, Agenesis of corpus callosum, Myoglobinuria, Reduced tis... ORPHA:228308
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Congenital Enterovirus Infection
Hypoalbuminemia, Pleural effusion, Hyperammonemia, Irritability ORPHA:292
Al Amyloidosis
Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency, Proteinuria, Increased circulating NT-p... ORPHA:85443
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Metaphyseal irregularity, Failure to thrive, Hyperphosphaturia, Splenomegaly, Hypo... OMIM:239200
Gaucher Disease Type 1
Hepatosplenomegaly, Hypersplenism, Pancytopenia, Hematuria, Cirrhosis, Anorexia, Hepatomegaly, El... ORPHA:77259
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Decreas... OMIM:614924
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Polyphagia, Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic he... ORPHA:251004
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Lethargy, Anemia, Pancreatitis, N... ORPHA:289916
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Hepatomegaly, Polycystic liver disease, Abnormal... ORPHA:2924
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Failure to thrive, Beta 2-microglobulinuria, ... ORPHA:97362
Ménétrier Disease
Hypoalbuminemia, Weight loss, Hypoproteinemia ORPHA:2494
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Free Sialic Acid Storage Disease
Ascites, Splenomegaly, Proteinuria, Gait disturbance, Aplasia/Hypoplasia of the abdominal wall mu... ORPHA:834
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Argininemia
Spastic gait, Portal fibrosis, Micronodular cirrhosis, Cerebellar atrophy, Cholestasis, Oroticaci... OMIM:207800
B4Galt1-Cdg
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... ORPHA:79332
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Myopathy, Decreased activity of mitochondrial complex I, Hepatomegal... OMIM:618234
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Depression, Restlessness, Abnormal fear-induced behavior, Purple urine... ORPHA:100924
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell co... OMIM:617514
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Co... OMIM:269920
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Agitation, Polyphagia, Letharg... ORPHA:276556
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Ele... OMIM:602541
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic gait, Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Dysme... OMIM:238970
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Difficulty walking, Interosseus muscle atrophy, Distal lower limb amyotrophy, Decreased activity ... OMIM:500013
Immunodeficiency, Common Variable, 1
Pneumonia, Abnormal T cell count, Recurrent pneumonia, Splenomegaly, Recurrent bronchitis, Recurr... OMIM:607594
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Agenesis of corpus callosum, Elevated circulating alanine amin... OMIM:608836
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Azoospermia, Splenomegaly, An... OMIM:615234
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... OMIM:208085
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Focal pancreatic islet hyperpl... ORPHA:276575
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Generalized lymphadenopathy, Absent circulating ... OMIM:620282
Abetalipoproteinemia
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnorma... ORPHA:14
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c... OMIM:201450
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Pleural effusion, Weight loss, Lung abscess, Pleural empyema ORPHA:67
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic... OMIM:614576
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612925
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Talipes calcaneovalgus, Overlapping toe, Micrognathia, Hepatomegaly, ... OMIM:270400
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Highly elevated creatine kinase, Ketonuria, Lower limb muscle weakness, Difficulty walking, Micro... OMIM:251900
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Reduced leukocyte N-sulfoglucosamine sulfohydrolase... OMIM:252900
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Autosomal Recessive Malignant Osteopetrosis
Abnormal epiphysis morphology, Reduced bone mineral density, Hypocalcemia, Splenomegaly, Tremor, ... ORPHA:667
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Failure to thrive, 3-Methylglutaconic aciduria, Hyperalaninemia, Progressive neu... OMIM:618329
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... ORPHA:447
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Splenomegaly, Decreased beta-galactosidase activity, Ataxia, Hepatomegaly OMIM:230650
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri... OMIM:612526
Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Re... ORPHA:427
Neuraminidase Deficiency
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascite... OMIM:256550
Caroli Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ... ORPHA:53035
Farber Lipogranulomatosis
Splenomegaly, Irritability, Decreased acid ceramidase activity, Lipogranulomatosis, Hepatomegaly OMIM:228000
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Preaxial foo... ORPHA:1988
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Hypouricemia, Recurrent upper respiratory tract infections, Decreased urinary urate, F... OMIM:613179
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612924
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... ORPHA:79477
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperammonemia, Emotional lability, Acute hyperammonemia, Lethargy, Hyperglutaminemia, Hyperalani... ORPHA:927
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Decreased activity of mitochondrial ATP synthase complex, 3-Meth... OMIM:604273
Juvenile Polyposis Syndrome
Hypoalbuminemia, Failure to thrive, Clubbing, Hypokalemia OMIM:174900
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Intermittent jaundice OMIM:179700
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Recurrent pneumonia, Splenomegaly, Follicular hyperplasia, Recurrent bronc... OMIM:240500
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Hepatic steatosis, Anemia, Cirrhosi... OMIM:606069
Primary Fanconi Renotubular Syndrome
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... ORPHA:3337
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Decreased activity of mi... OMIM:617713
Optic Atrophy 11
Increased variability in muscle fiber diameter, Stereotypical body rocking, Facial diplegia, Sple... OMIM:617302
Indolent Systemic Mastocytosis
Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega... ORPHA:98848
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... OMIM:268305
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Cholestasis, Progressive Familial Intrahepatic, 2