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Gene: Hgsnat MGI:1196297

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
enlarged urinary bladder Hgsnatem4(IMPC)Tcp HOM Early adult 0.00
increased bone mineral content Hgsnatem4(IMPC)Tcp HOM Early adult 1.07×10-05
increased circulating phosphate level Hgsnatem4(IMPC)Tcp HOM Early adult 9.34×10-05
decreased exploration in new environment Hgsnatem4(IMPC)Tcp HOM Early adult 6.35×10-05
abnormal cholesterol homeostasis Hgsnatem4(IMPC)Tcp HOM Early adult 4.79×10-05
increased circulating potassium level Hgsnatem4(IMPC)Tcp HOM Early adult 3.29×10-07
abnormal lung morphology Hgsnatem4(IMPC)Tcp HOM Early adult 0.00
increased circulating alkaline phosphatase level Hgsnatem4(IMPC)Tcp HOM Early adult 2.41×10-05
decreased circulating serum albumin level Hgsnatem4(IMPC)Tcp HOM   Early adult 6.67×10-05
decreased total body fat amount Hgsnatem4(IMPC)Tcp HOM Early adult 1.26×10-11
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
short tibia Hgsnatem4(IMPC)Tcp HOM Early adult 4.42×10-05
increased startle reflex Hgsnatem4(IMPC)Tcp HOM Early adult 7.43×10-06

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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 Skull Lateral Orientation

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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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
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Heparan sulfate excreti... OMIM:252930
Retinitis Pigmentosa
Obesity, Atypical scarring of skin, Hypoplasia of penis 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
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Pseudohypoparathyroidism, Type Ia
Short toe, Cognitive impairment, Brachydactyly, Osteoporosis, Enamel hypoplasia, Hypocalcemic tet... OMIM:103580
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Brachydactyly, Hyperphosphatemia, Obesity, Short metacarpal, Low urinary cyclic AMP... OMIM:603233
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t... OMIM:618528
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirub... OMIM:619868
Pseudohypoparathyroidism, Type Ic
Cognitive impairment, Brachydactyly, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, Hyperp... OMIM:612462
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Ataxia, Hepatomegaly, Splenomegaly ORPHA:2274
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Laryngeal dystonia, Irritabil... ORPHA:94089
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... OMIM:600995
Pseudohypoparathyroidism Type 2
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia, Cardiomegaly, Craniosynostosis ORPHA:88643
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Nephrocalcinosis, Irritability OMIM:146200
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... OMIM:601198
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Laryngeal dystonia, Irritability, Anxiety, Calcium ... ORPHA:36913
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Proximal muscle weakness in lower limbs, Weakness of facial muscu... ORPHA:457050
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Immunodeficiency 27A
Enlarged mesenteric lymph node, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head,... OMIM:209950
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia, Irritability OMIM:239350
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Hypophosphatemia, Metaphyseal cupping, Hypocalcemia, Osteopenia, Flared metap... OMIM:619073
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chronic... OMIM:603278
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Behavioral Variant Of Frontotemporal Dementia
Apathy, Inappropriate behavior, Astrocytosis, Gait disturbance, Emotional blunting, Disinhibition... ORPHA:275864
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Pes cavus, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Gliosis, Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic ... OMIM:203700
Barth Syndrome
Abnormality of neutrophils, Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardia... ORPHA:111
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Depression, Elevated creatine kinase after exercise, Limb-girdle mus... ORPHA:352470
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chr... OMIM:615573
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Failure to thrive, Increased bone mineral density, Macular scar, Hydroxyprolin... OMIM:239000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cognitive impairment, Mental deterioration, Pes cavus, Elevated circulating creatine kinase conce... OMIM:208920
Frontotemporal Dementia With Motor Neuron Disease
Apathy, Gliosis, Progressive cerebellar ataxia, Depression, Abnormal mitochondrial morphology, Ab... ORPHA:275872
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Micronodular cirrhosis, Truncal ataxia, Difficulty walking, Increased total iron bi... ORPHA:309854
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Micropenis, Small hand, Patchy osteosclerosis, Micrognathia, Hyperphosphatemia, Sho... OMIM:241410
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Immunodeficiency 43
Radial bowing, Hypoproteinemia, Hypoplasia of the ulna, Hypoalbuminemia, Bronchiectasis, Recurren... OMIM:241600
Pseudohypoparathyroidism Type 1C
Laryngeal dystonia, Short 3rd metacarpal, Calcinosis, Broad distal phalanx of the thumb, Low urin... ORPHA:79444
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Hematuria, Focal segmental glomerulosclerosis, Hypoal... OMIM:614131
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Apathy, Inappropriate behavior, Astrocytosis, Gait disturbance, Disinhibition, Aggressive behavio... OMIM:600795
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine ORPHA:94086
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pes cavus, Distal lower limb muscle weakness, Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Calciphylaxis
Ectopic ossification, Cellulitis, Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, A... OMIM:307800
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia, Proteinuria, Ac... ORPHA:54370
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Focal segmental glomerulosclerosis, Enamel hypoplasia, Proteinuria... OMIM:618349
Pseudohypoparathyroidism Type 1A
Laryngeal dystonia, Short 3rd metacarpal, Calcinosis, Broad distal phalanx of the thumb, Low urin... ORPHA:79443
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Metacarpal periosteal thickening, Achilles tendon calcification, Hyperphosphatemia, H... OMIM:617994
Hypophosphatemic Rickets, X-Linked Recessive
Femoral bowing, Thin bony cortex, Proximal tubulopathy, Renal phosphate wasting, Nephrolithiasis,... OMIM:300554
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Sanjad-Sakati Syndrome
Hypocalcemia, Hypoplasia of penis, Small hand, Patchy osteosclerosis, Micrognathia, Hyperphosphat... ORPHA:2323
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Met... OMIM:264700
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Met... OMIM:600081
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Cognitive impairment, Elevated circulati... OMIM:300555
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Talipes equinovarus, Small for gestational age, Micropenis, Hypo... OMIM:607143
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Enam... OMIM:211900
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Hypertriglyceride... OMIM:619013
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Short distal phalanx of finger, Renal hypophosphatemia OMIM:241519
Progressive Non-Fluent Aphasia
Depression, Abnormal lower motor neuron morphology, Anxiety, Astrocytosis ORPHA:100070
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Renal insufficien... ORPHA:99845
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubul... OMIM:618913
Fibronectin Glomerulopathy
Nephrotic syndrome, Pedal edema, Renal insufficiency, Hypoalbuminemia, Proteinuria, Microscopic h... ORPHA:84090
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, F... OMIM:241530
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Abnormal mitochondrial morphology, Choreoatheto... OMIM:300438
Acrodysostosis 1 With Or Without Hormone Resistance
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Long hallux, Hypoplas... OMIM:101800
Hypocalcemic Vitamin D-Resistant Rickets
Nephrolithiasis, Hypophosphatemia, Bone cyst, Hypocalcemia, Abnormal adipose tissue morphology, A... ORPHA:93160
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, I... OMIM:267700
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Recurrent l... ORPHA:86816
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Increased circulating 18-hydroxycortisone level, Increased circulating renin l... OMIM:610600
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Diffuse mesangial sclerosis, Arachnodactyly, Micrognathia, Partial duplicatio... OMIM:616730
Inherited Creutzfeldt-Jakob Disease
Apathy, Progressive cerebellar ataxia, Bradykinesia, Depression, Anxiety, Akinetic mutism, Astroc... ORPHA:282166
Familial Infantile Bilateral Striatal Necrosis
Loss of ambulation, Ataxia, Basal ganglia gliosis, Lower limb muscle weakness, Astrocytosis, Gait... ORPHA:225154
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Irritability, Diffuse mesangial sclerosis, Focal segmental glomeruloscler... ORPHA:656
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly, Cardiomyopathy OMIM:609016
Dent Disease 1
Femoral bowing, Glycosuria, Thin bony cortex, Proximal tubulopathy, Stage 5 chronic kidney diseas... OMIM:300009
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction, Elevated alpha-fetoprotein, Elevated circulating creatine ... ORPHA:64753
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Gliosis, Akinetic mutism, Astrocytosis, Recurrent aspiration pneumonia ORPHA:204
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Hyp... OMIM:619063
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... OMIM:614196
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foc... ORPHA:567548
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Met... OMIM:277440
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol co... ORPHA:247585
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Galloway-Mowat Syndrome 6
Decreased body weight, Nephrotic syndrome, Clinodactyly of the 5th finger, Focal segmental glomer... OMIM:618347
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Recurrent phar... OMIM:308240
Alg6-Cdg
Failure to thrive, Shortening of all distal phalanges of the fingers, Brachydactyly, Decreased LD... ORPHA:79320
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology, Urinary urgency, Lower limb muscle weakness, Ragged-red muscle... ORPHA:99013
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... OMIM:620010
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Reduced bone mineral density, Anxiety, Hypercalciuria, Writer's cra... ORPHA:428
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Absent proxi... OMIM:619217
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Aspiration pneumonia, Oculogyric crisis, Elevated circulating creat... ORPHA:94093
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Hypoproteinemia, Diffuse mesangial sclerosis, Smal... OMIM:256300
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Abnormal spleen ph... ORPHA:398063
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... OMIM:610717
Hypophosphatemic Bone Disease
Bowing of the legs, Hypophosphatemia, Osteomalacia, Rickets OMIM:146350
Hypocalcemic Vitamin D-Dependent Rickets
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Hypocalcemia, Sparse bone t... ORPHA:289157
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Inability to walk, Atrial septal defect, Astrocytosis, Difficulty walking, Neph... OMIM:611087
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... OMIM:616963
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Genu recurvatum, Reduced bone mineral density, Mental deterioration, Talipes, S... ORPHA:2611
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Depression, Ataxia, Nephropathy, Astrocytosis OMIM:172500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Abnormality of... OMIM:193100
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... OMIM:615244
Leishmaniasis
Hepatomegaly, Splenomegaly, Hypoalbuminemia, Weight loss, Lymphadenopathy ORPHA:507
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Micropenis, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of... OMIM:612447
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Mental deterioration, Focal segmenta... OMIM:617575
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... ORPHA:556037
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Hypertrophic cardiomyopathy, Abnormal mitochondri... OMIM:618378
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Orofaciodigital Syndrome Viii
Short tibia, Recurrent aspiration pneumonia, Syndactyly, Polydactyly OMIM:300484
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Increased muscle glycogen content, Hepatomegaly OMIM:261750
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Cognitive impairment, Abnormal penis morphology, Abnormal hip bone morphology, Hyperphosphatemia,... ORPHA:457059
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Bowing of the legs, Hypophosphatemic rickets, Hypophosphatemia, Reduced bone min... ORPHA:157215
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, S... OMIM:603553
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Weight loss, Abnormal circulating polysaccharide conc... ORPHA:103910
Slc35A2-Cdg
Talipes equinovarus, Transient nephrotic syndrome, Craniosynostosis, Increased circulating thyrog... ORPHA:356961
Hyperchlorhidrosis, Isolated
Failure to thrive, Hyperkalemia, Hyponatremia OMIM:143860
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Increased bone mineral density, Small for gestational age, Abnormality of the medul... OMIM:127000
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Osteopenia, Chondrocalcinosis, Hyperphosphaturia, Hypercalciuria, Generalized o... ORPHA:99879
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Steatorrhea, Renal cyst, Hypoalbuminemia, Proximal tubulopathy, ... OMIM:602579
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Clubbing, Hypoalbuminemia, Periostosis, Hyperostosis OMIM:614441
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Failure to thrive, Hyponatremia, Hyperaldosteronism, Hyperkalemia, Recurrent respiratory infectio... OMIM:264350
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... ORPHA:556030
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Decreased beta-galactosidase activity, Splenomegaly, Hypergalactosem... OMIM:230350
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Hepatomegaly, Hepatic failure, Splenomegaly, Gait ataxia, Hepatic fibrosis, Cerebellar at... OMIM:616719
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Dilated card... OMIM:602390
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Dandy-Walker malformation, Multicystic kidney dysplasia, Abnor... ORPHA:3032
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Decreased plasma carnitine, Ragged... ORPHA:254864
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... OMIM:614817
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Increased serum pyruvate, Elevated... OMIM:500009
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor OMIM:609153
Generalized Pseudohypoaldosteronism Type 1
Recurrent upper and lower respiratory tract infections, Recurrent tonsillitis, Increased circulat... ORPHA:171876
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Throm... OMIM:603552
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, A... ORPHA:1505
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insuff... OMIM:613388
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Talipes equinovarus, Joint contracture of the hand, Coronal craniosynostosis, Cutaneo... OMIM:235510
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:203400
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Acute myelomonocytic leukemia, Splenomegaly, Aplasia/Hypoplasia of th... ORPHA:2585
Mcleod Syndrome
Hepatomegaly, Splenomegaly, Depression, Anxiety, Elevated circulating aspartate aminotransferase ... OMIM:300842
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, ... OMIM:232700
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Flexion contracture, Splenomegaly, Flared iliac wing... OMIM:617303
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep... OMIM:278000
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Micropenis OMIM:613861
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Hypophosphatemia, Clinodactyly of the 5th finger, Metaphyseal cupping, Short rib... OMIM:156400
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Hepatomegaly, Bradykinesia, Macrovesicular hepatic steatosis, Cholest... OMIM:614924
Barth Syndrome
Granulocytopenia, Abnormal mitochondrial morphology, Hypochromic microcytic anemia, Endocardial f... OMIM:302060
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased proportion autorea... OMIM:615559
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate le... OMIM:619048
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Pneumonia, Lymphadenopathy OMIM:608971
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Osteomalacia... OMIM:134600
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic bronchitis, Splenomegaly, Cirrhos... OMIM:613490
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... OMIM:619658
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Hepatomegaly, Muscular dystrophy, Truncal ataxia, Abnormal circulating crea... ORPHA:369840
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Hypophosphatemia, Hypocalcemia, Osteomalacia, Hyperphosphaturia, Rickets ORPHA:89937
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperaldosteronism, Hyperkalemia OMIM:177735
Sandhoff Disease
Ataxia, Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:796
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Increased variability in muscle fiber diameter, Unsteady gait, Skeletal muscle atro... ORPHA:17
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Elevated... OMIM:619644
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Hepatomegaly, Talipes equinovarus, Camptodactyly, Elevated circulating creatin... OMIM:608104
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Hypocalciuria, Genu valgum, Abnormal epiphysis... ORPHA:89936
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Nephrolithiasis, Weakness of facial musculature, Elevated circulating creatine kinase concentrati... ORPHA:352447
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Myopathy, Myoglo... ORPHA:228305
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hyperammonemia, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Elevated h... OMIM:212140
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Hyperphosph... OMIM:612287
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hepatomegaly, Irritability, Micropenis, Self-mutilation, Left ventricular hype... OMIM:619487
Cog7-Cdg
Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concentration, Elevated he... ORPHA:79333
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Myoglobinuria, Hyperphosphatemia, Acute kidney injury, H... ORPHA:423
Trimethylaminuria
Splenomegaly, Depression, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Anemia OMIM:602079
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Depression, Increased urinary porphobilinogen, Anxiety, Elevated urin... OMIM:121300
Alg1-Cdg
Renal insufficiency, Nephrotic syndrome, Hypoalbuminemia ORPHA:79327
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Ataxia, Hepatomegaly, Hepatic failure, Hyperam... ORPHA:2394
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... ORPHA:369
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Hypercalciu... OMIM:612286
Wilson Disease
Hepatomegaly, Glycosuria, Tremor, Pedal edema, Proteinuria, Limb dystonia, Hypouricemia, Renal tu... OMIM:277900
Combined Oxidative Phosphorylation Deficiency 1
Decreased activity of mitochondrial ATP synthase complex, Fulminant hepatic failure, Hepatomegaly... OMIM:609060
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:614736
Alg12-Cdg
Failure to thrive, Abnormal bone ossification, Clinodactyly of the 5th finger, Talipes equinovaru... ORPHA:79324
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... OMIM:214900
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Fanconi-Bickel Syndrome
Renal tubular dysfunction, Failure to thrive, Reduced subcutaneous adipose tissue, Hypophosphatem... OMIM:227810
Congenital Disorder Of Glycosylation, Type Iij
Ataxia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, S... OMIM:613489
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulati... ORPHA:247598
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Hypoalbuminemia, Decreased circulating copper concentration, Palmoplantar kera... OMIM:242150
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-weight ... OMIM:308990
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Abnormal lymphatic vessel morphology, Hypoalbumine... ORPHA:90362
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur... OMIM:603471
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Ataxia, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kin... ORPHA:42
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypoproteinemia, Hypoalbuminemia, Pneumonia, Clubbing of fingers, Clubbing OMIM:226300
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... OMIM:613101
Oncogenic Osteomalacia
Renal phosphate wasting, Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Fibrou... ORPHA:352540
Dent Disease
Renal hypophosphatemia, Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Proteinuria, Pr... ORPHA:1652
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Liver Failure, Infantile, Transient
Hepatomegaly, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Hypoalbu... OMIM:613070
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated... OMIM:616278
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Respiratory ... ORPHA:444463
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Pulmonary hypoplasia, Contracture of the proximal inte... OMIM:601559
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Inability to walk, Hepatomegaly, Splenomegaly, Elevated circulating aspar... OMIM:257200
Mpi-Cdg
Failure to thrive, Hepatomegaly, Hypoalbuminemia ORPHA:79319
Acrodysostosis With Multiple Hormone Resistance
Short toe, Hypocalcemia, Hypoplastic vertebral bodies, Absent/hypoplastic paranasal sinuses, Hypo... ORPHA:280651
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... OMIM:600649
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Elevated circulating aspartate aminotransferase concentration, Hepatom... OMIM:614876
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Micromelia... OMIM:251230
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, H... ORPHA:93325
Eosinophilic Gastroenteritis
Weight loss, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Steatorrhea ORPHA:2070
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Flexion contracture, Steatorrhea, Intention ... OMIM:212065
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Generalized aminoaciduria, Hyp... OMIM:251880
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Distal amyotrop... OMIM:232400
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Abnormal renal physiolo... ORPHA:540
Wolcott-Rallison Syndrome
Chronic kidney disease, Decreased body weight, Hepatomegaly, Hyperbilirubinemia, Metaphyseal dysp... ORPHA:1667
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Immunodeficiency 48
Hepatomegaly, Splenomegaly, Pneumonia, Absence of CD8-positive T cells, Recurrent respiratory inf... OMIM:269840
Cockayne Syndrome Type 3
Hepatomegaly, Flexion contracture, Splenomegaly, Unilateral renal agenesis, Hydroureter, Astrocyt... ORPHA:90324
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperprolinemia, Elevated hepatic transaminase, Decreased activity of mitochondrial... OMIM:619064
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi... ORPHA:88618
Fanconi-Bickel Syndrome
Failure to thrive, Hypophosphatemia, Hepatomegaly, Renal tubular acidosis, Osteopenia, Glycosuria... ORPHA:2088
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... ORPHA:882
Dyschondrosteosis And Nephritis
Radial bowing, Nephritis, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly, Hyperammonemia, Choreoathetosis, Renal insufficiency, N... ORPHA:79312
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Muscle fiber atrophy, Flexion contracture, Absent muscle fiber merosin, Macrog... ORPHA:258
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hepatomegaly, Flexion contracture, Hepatosplenomegaly, Hypoalbuminemia ORPHA:367
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Decreased body weight, Pulmonary edema, Decreased glomerular filtration r... ORPHA:340
Glut1 Deficiency Syndrome 2
Ataxia, Splenomegaly, Hemolytic anemia, Choreoathetosis, Reduced haptoglobin level, Reticulocytos... OMIM:612126
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Rickets of the lower limbs, Hypophosphatemic rickets, Abnormality of ren... ORPHA:289176
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:616860
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Thenar muscle atrophy, Distal lower limb muscle weakness, Interosseus muscle atrophy, Fiber type ... OMIM:500013
Pseudohypoaldosteronism Type 2
Hyperkalemia, Abnormal dental enamel morphology ORPHA:757
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Decreased liver function, Renal cyst, Hepatomegaly OMIM:614870
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Mirage Syndrome
Decreased body weight, Talipes equinovarus, Aspiration pneumonia, Hypospadias, Radial club hand, ... OMIM:617053
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Gaucher Disease, Type Iii
Ataxia, Hepatomegaly, Splenomegaly, Depression, Decreased beta-glucocerebrosidase level, Pancytop... OMIM:231000
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Pleu... OMIM:618183
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Failure to thrive in infancy, Tubulointerstitial nephritis, Renal... OMIM:617595
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Hyperlipidemia, Macroscopic hematuria, Focal segmental glomerulosclerosis... ORPHA:567546
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hyperkalemia, Splenomegaly OMIM:608885
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Nephritis, Coombs-positive hemolytic ... OMIM:614034
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Jaundice, Abnormal renal physiology, Schistocytosis, Elevated circ... OMIM:274150
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Gliosis, Hepatomegaly, Inability to walk, 3-Met... ORPHA:26791
Cockayne Syndrome Type 1
Ataxia, Hepatomegaly, Increased blood urea nitrogen, Gait disturbance, Elevated hepatic transamin... ORPHA:90321
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... OMIM:600740
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... OMIM:301045
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Coxa vara, Hypophosphatemia, Fibrous dysplasia of the bones, Abn... ORPHA:249
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Depression, Cirrhosis, Acute hepatic failure, Proxim... ORPHA:905
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Cellulitis, Elevated circulating creatine kinase concentration, Elevated circulatin... ORPHA:36234
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:614727
Babesiosis
Hepatomegaly, Splenomegaly, Depression, Hepatic failure, Leukopenia, Hemolytic anemia, Recurrent ... ORPHA:108
Hyperkalemic Periodic Paralysis
Hypokalemia, Flexion contracture, Elevated circulating creatine kinase concentration, Hyponatremi... ORPHA:682
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Propionic Acidemia
Hepatomegaly, Hyperammonemia, Propionyl-CoA carboxylase deficiency, Organic aciduria, Cardiomyopathy ORPHA:35
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Ataxia, Hepatomegaly, Elevated hepatic transaminase, Hypertrophic cardi... OMIM:246900
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Acute kidney injury, Myoglobinuria, Hyperkalemia ORPHA:57
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Cerebellar atrophy... OMIM:610333
Cystinosis
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Nephr... ORPHA:213
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellul... OMIM:235200
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Hyperlysinemia, Hepatomegaly, Hypervalinemia, Leukocy... OMIM:615673
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Nephrotic syndrome, Splenomegaly, Cachexia, Interstitial pneumoniti... ORPHA:37042
Hepatic Veno-Occlusive Disease
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Renal insufficiency, Asci... ORPHA:890
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Horseshoe kidney, Talipes equ... OMIM:609945
Galloway-Mowat Syndrome 3
Failure to thrive, Nephrotic syndrome, Hiatus hernia, Diffuse mesangial sclerosis, Arachnodactyly... OMIM:617729
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Glycosuria, Large for gestational age, Proteinuria... OMIM:616026
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hypergalactosemia, Cho... ORPHA:570422
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concen... OMIM:255120
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Leigh Syndrome With Nephrotic Syndrome
Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Renal cyst, Tubulointerstitial nep... ORPHA:255249
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... OMIM:617713
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Reduced carnitin... ORPHA:157
Xfe Progeroid Syndrome
Corneal scarring, Failure to thrive, Cachexia, Pes cavus, Enamel hypoplasia, Absence of subcutane... OMIM:610965
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Hepatomegaly, Decreased activity of mitochondrial respiratory chain, Dilated cardiomyopat... OMIM:614299
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... OMIM:201475
Cystic Echinococcosis
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Multiple pulmonary cysts, ... ORPHA:400
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... ORPHA:75234
Multiple Symmetric Lipomatosis
Gait disturbance, Hepatomegaly ORPHA:2398
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased body weight, Flexion contracture, Abnormal circulating selenium conc... ORPHA:89842
Ménétrier Disease
Weight loss, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Metaphyseal irregularity, Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splen... OMIM:239200
Microcephaly, Amish Type
Hepatomegaly, Flexion contracture, Limb hypertonia, Cerebellar hypoplasia, Partial agenesis of th... OMIM:607196
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Recurrent aspiration pneumonia, Hand polydactyly, Toe syndactyly OMIM:258865
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H... OMIM:306000
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Portal fibros... ORPHA:370
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Talipes equinovarus, Stage 3 chronic ... OMIM:619743
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia, Metaphyseal cupping, Hypoplastic vertebral bodies, Sho... OMIM:258480
Congenital Enterovirus Infection
Irritability, Hypoalbuminemia, Pleural effusion, Hyperammonemia ORPHA:292
Galactosemia
Gait imbalance, Ataxia, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic failure, Cirrhos... ORPHA:352
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Hepatomegaly, Lethargy OMIM:618224
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Abn... ORPHA:848
Galloway-Mowat Syndrome 1
Nephrotic syndrome, Hiatus hernia, Joint contracture of the hand, Diffuse mesangial sclerosis, Sm... OMIM:251300
Splenoportal Vascular Anomalies
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... OMIM:271500
Al Amyloidosis
Nephrotic syndrome, Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal pulmona... ORPHA:85443
Trichohepatoenteric Syndrome 1
Failure to thrive, Hepatomegaly, Splenomegaly, Small for gestational age, Hypospadias, Cognitive ... OMIM:222470
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Hepatomegaly, Pancreatitis, Hyperammonemia, Leukopenia, Macrocytic anemia, Choreoathetosi... ORPHA:27
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein c... ORPHA:829
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Self-mutilation, Micromelia, Hammertoe, Hip subluxation, Pulmonary hypoplasia, Epip... OMIM:270400
Microphthalmia With Limb Anomalies
Sandal gap, Horseshoe kidney, Bowing of the long bones, Short long bone, Clinodactyly of the 5th ... ORPHA:1106
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Flexion c... OMIM:601560
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Difficulty walking, Cerebellar atrophy, Abnormality of the mitochondrion, Skel... ORPHA:330050
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Hyperammonemia, Renal insufficiency, Anemia, Lethargy ORPHA:28
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Hepatomegaly, Splenomegaly, Pontocerebellar atrophy, Elevated circulating creatine kinase... OMIM:608799
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Flexion contracture, Splenomegaly OMIM:608540
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Bilia... ORPHA:1414
Harderoporphyria
Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Splenome... OMIM:618892
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Reduced carnitin... ORPHA:228308
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hyperammonemia, ... ORPHA:159
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Decreased proportion of CD4+CD25+... OMIM:619802
Amoebiasis Due To Entamoeba Histolytica
Pleural empyema, Hypoalbuminemia, Pleural effusion, Weight loss, Lung abscess ORPHA:67
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas, Increa... ORPHA:2924
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Ataxia, Hepatomegaly OMIM:615924
Dystonia-Aphonia Syndrome
Abnormal urinary odor, Macroglossia, Abnormal mitochondrial shape, Anxiety, Gait disturbance, Uns... ORPHA:412217
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Recurrent respiratory infections, Splenomegaly ORPHA:77260
Free Sialic Acid Storage Disease
Ataxia, Nephrotic syndrome, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall ... ORPHA:834
Hodgkin Lymphoma
Ataxia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... ORPHA:14
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis, Myopathy OMIM:618234
Juvenile Polyposis Syndrome
Failure to thrive, Hypokalemia, Hypoalbuminemia, Clubbing OMIM:174900
Galactosemia I
Increased level of galactitol in urine, Decreased liver function, Hepatomegaly, Aminoaciduria, In... OMIM:230400
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... ORPHA:397744
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Macroglossia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, D... OMIM:251900
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hepatomegaly, Hypocalcemia, Splenomegaly, Craniosynostosis, Osteopetrosis, Redu... ORPHA:667
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... OMIM:608836
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Hepatomegaly, Pancreatitis, Hyperammonemia, Choreoathetosis, Renal ins... ORPHA:289916
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Loss of ambulation, Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Elevated circula... OMIM:619518
Familial Hypoaldosteronism
Failure to thrive, Proximal renal tubular acidosis, Increased circulating renin level, Hyponatrem... ORPHA:427
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Periportal fibrosis, Abnormal enzy... ORPHA:101330
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... ORPHA:100024
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Hepatomegaly, Splenomegaly, Anxiety, Recurrent pneumonia OMIM:615637
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Cardiomyopathy, Anemia, He... OMIM:606069
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Primary Fanconi Renotubular Syndrome
Hyperuricosuria, Glycosuria, Renal sodium wasting, Weight loss, Stage 5 chronic kidney disease, H... ORPHA:3337
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein... OMIM:619662
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Decreased acid ceramidase activity, Irritability, Lipogranulomatosis OMIM:228000
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Progressive neurologic deterioration, 3-Methylglutaconic aciduria, Hypoalbumin... OMIM:618329
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypokalemia, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis, ... OMIM:602722
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Dicarboxylic ac... OMIM:212138
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... OMIM:612526
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis, Renal cortical cysts, Hepatomegaly, Electron transfer flavoprotein-ubiquinone oxidoreduc... OMIM:231680
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Osteomalacia, Distal renal tubular acidosis, Elevated... OMIM:179800
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubin... OMIM:269920
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Dysmetria, Splenomegaly, Urinary excretion of sialylated ol... OMIM:256550
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Atrial septal defect, Elevated circulating alkaline phosphatase concentration, Sple... OMIM:614576
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia, Rickets OMIM:612089
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Splenomegaly, Increased circulating inosine concentration, Recurrent upper res... OMIM:613179
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hypokalemia, Hepatosplenomegaly, Distal renal tubular acidosis, Isothenuria, N... OMIM:611590
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline... ORPHA:79303
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, T lymphocytopenia, Decreased proportion of clas... OMIM:615513
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Inguinal hernia, Short femur, Mi... ORPHA:1988
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Cirrhosis, Macrovesicular hepatic steatosis, Foot dorsifl... ORPHA:298
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Recurrent sinusitis, Decr... OMIM:300853
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... ORPHA:251004
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hepatomegaly, Pulmon... OMIM:615704
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated gamma-gluta... OMIM:614582
Classic Galactosemia
Gait imbalance, Ataxia, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic failure, Depress... ORPHA:79239
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Decreased activity of mitochondrial ATP synthase complex, Dysplastic corpus callosum, Hepatomegal... OMIM:604273
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs, Hepatomegaly, Splenomegaly ORPHA:2204
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Ataxia, Quadriceps muscle weakness, Limb muscle weakness, Abnormality of the mit... ORPHA:254892
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Delayed epiphyseal ossification, Fragmented epiphyses, Epiphyseal dysplas... ORPHA:166016
Hypophosphatemic Rickets
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Fibrous dysplasia of the bones, Hyp... ORPHA:437
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... OMIM:613673
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Sialidosis Type 2
Ataxia, Hepatomegaly, Flexion contracture, Splenomegaly, Nephropathy, Ascites, Skeletal muscle at... ORPHA:87876
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholest... OMIM:617394
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Elevated circulating creatine kinase concentration, Oliguria, Hyperphosphatemia, Ac... ORPHA:466650
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... OMIM:613011
Uremic Pruritus
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Depression, Hyperc... ORPHA:94059
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Heparan sulfate excreti... OMIM:252920
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Transient h... ORPHA:156
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, H... OMIM:601847
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Nephrotic syndrome, Nephropathy, Aplasia/Hypoplasia of the cere... ORPHA:1192
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, Ascites, Anemia, Lymphadenopathy, ... ORPHA:858
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Apathy, Hepatomegaly, 3-Methylglutaric aciduria, Hyperammonemia, Organic aciduria, Decreased plas... OMIM:246450
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Bradykinesia, Polycythemia, Cirrhosis, Elevated hepatic t... OMIM:613280
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Glycogen Storage Disease Xii
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... OMIM:611881