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Gene: Pfkm MGI:97548

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Gene Summary

Name:
phosphofructokinase, muscle
Synonyms:
Pfk4,  PFK-A,  Pfkx,  PFK-M,  Pfk-4

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
abnormal testis morphology Pfkmem1(IMPC)Mbp HET Early adult 0.00
abnormal seminal vesicle morphology Pfkmem1(IMPC)Mbp HET Early adult 0.00
abnormal liver morphology Pfkmem1(IMPC)Mbp HET Early adult 0.00
small liver Pfkmem1(IMPC)Mbp HET Early adult 0.00
small seminal vesicle Pfkmem1(IMPC)Mbp HET Early adult 0.00
increased lean body mass Pfkmem1(IMPC)Mbp HET Early adult 1.99×10-05
decreased body length Pfkmem1(IMPC)Mbp HET Early adult 4.16×10-07
decreased total body fat amount Pfkmem1(IMPC)Mbp HET Early adult 4.62×10-05
abnormal skin morphology Pfkmem1(IMPC)Mbp HET Early adult 0.00
abnormal vitreous body morphology Pfkmem1(IMPC)Mbp HET Early adult 9.70×10-05
enlarged testis Pfkmem1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Human diseases caused by Pfkm 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 Pfkm by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease Vii
Exercise intolerance, Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase con... OMIM:232800
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Hyperuricemia, Anemia ORPHA:371

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Acid-Labile Subunit Deficiency
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty OMIM:615961
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance OMIM:311100
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Muscle Filaminopathy
Back pain, Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal mu... ORPHA:171445
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Elevated circulating cr... OMIM:619733
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, A... ORPHA:86812
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Dilated cardiomyo... ORPHA:206546
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... OMIM:615424
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Rhabdomyolysis, Susceptibility To, 1
Exercise intolerance, Elevated circulating creatine kinase concentration, Centrally nucleated ske... OMIM:620235
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... OMIM:254110
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... OMIM:616199
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:620286
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Elevated circulating creatine kinase concentration, Centrally nuclea... OMIM:618129
Inclusion Body Myositis
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... ORPHA:611
Myopathy, Centronuclear, 4
Exercise intolerance, Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine k... OMIM:614807
Glycogen Storage Disease 0, Muscle
Exercise intolerance, Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy,... OMIM:611556
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:612999
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Elevated circu... OMIM:608423
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:601846
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Mitochondrial Myopathy With Diabetes
Exercise intolerance, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-re... OMIM:500002
Myopathy, Distal, Tateyama Type
Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske... OMIM:614321
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Cranial Nerves, Recurrent Paresis Of
Diabetes mellitus OMIM:218200
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... OMIM:611705
Myofibrillar Myopathy 11
Fatigue, Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, M... OMIM:619178
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Myopathy ORPHA:33574
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Glycogen Storage Disease Vii
Exercise intolerance, Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase con... OMIM:232800
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Myopathy, Vacuolar, With Casq1 Aggregates
Myalgia, Elevated circulating creatine kinase concentration, Muscle fiber calsequestrin 1-contain... OMIM:616231
Nonaka Myopathy
Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti... OMIM:605820
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Hyperbilirubinemia, Reticulocytosis OMIM:179700
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Exercise Intolerance, Riboflavin-Responsive
Exercise intolerance, Ragged-red muscle fibers OMIM:616839
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Elevated circulating creatine kinase conc... OMIM:615418
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Cardiomyopathy, ... OMIM:609200
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... ORPHA:552
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Essential Fructosuria
Hyperglycemia ORPHA:2056
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Congenital Myopathy 18
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... OMIM:620246
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentration, Centrally nuclea... OMIM:255160
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Muscular Dystrophy, Limb-Girdle, Type 1H
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Exercise intolerance, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-re... OMIM:616209
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce... ORPHA:3202
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Cardiomyopathy, ... ORPHA:401768
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Myofibrillar Myopathy 10
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont... OMIM:619040
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... OMIM:618655
Welander Distal Myopathy
Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles OMIM:604454
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Centra... OMIM:618992
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Hyperalaninemia, Hypoglycemia, Left ventricular hypertroph... OMIM:619048
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hyperbilirubine... OMIM:620010
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Mildly elevated creatine kinase, Fiber type grouping OMIM:614369
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo... ORPHA:251380
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Sickle Cell Anemia
Pain, Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of th... ORPHA:232
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Diabetes mellitus, Ragged-red muscle fibers OMIM:540000
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... OMIM:160500
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... ORPHA:206549
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... OMIM:613673
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... OMIM:609115
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosi... OMIM:601493
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... OMIM:620138
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... OMIM:618654
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis OMIM:261650
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... ORPHA:178464
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... OMIM:618484
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young OMIM:142330
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
King-Denborough Syndrome
Ventricular septal defect, Elevated circulating creatine kinase concentration, Centrally nucleate... OMIM:619542
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Abnormal cir... OMIM:615959
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Exercise intolerance, Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal... ORPHA:457050
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... OMIM:616860
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm... OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ... OMIM:609500
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... OMIM:608099
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Sudden death, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophi... OMIM:614676
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Skeletal m... OMIM:613156
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Partington Syndrome
Macroorchidism ORPHA:94083
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... ORPHA:486815
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, E... OMIM:617072
17Q11.2 Microduplication Syndrome
Macroorchidism, Enamel hypoplasia, Abnormal dental enamel morphology ORPHA:139474
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... ORPHA:276608
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... OMIM:611881
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ... OMIM:619477
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Phosphoglycerate Kinase 1 Deficiency
Exercise intolerance, Hemolytic anemia, Reticulocytosis, Rhabdomyolysis, Myopathy, Erythroid hype... OMIM:300653
Ethanolaminosis
Cardiomegaly OMIM:227150
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... OMIM:615422
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Rhabdomyolysis, Myopathy, ... ORPHA:713
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Facial palsy, Splenomegaly, Anemia, Thrombocytopenia OMIM:611490
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Fatigue, Pericarditis, Abnormal ... ORPHA:75566
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... OMIM:181400
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... OMIM:255310
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concen... OMIM:300696
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... ORPHA:288
Lipodystrophy, Congenital Generalized, Type 4
Exercise intolerance, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase co... OMIM:613327
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... OMIM:616812
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Elevated circulating creatine kinase concentration, Fatty ... ORPHA:266
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Left atrial enlargement OMIM:612201
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Gast... ORPHA:276435
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Hyperalaninemia OMIM:616974
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... OMIM:601954
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me... ORPHA:276575
Wolfram-Like Syndrome
Diabetes mellitus, Glucose intolerance, Primary gonadal insufficiency, Delayed puberty, Male hypo... ORPHA:411590
Malaria
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Myalgia, Hyperbilirubine... ORPHA:673
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Chest pain OMIM:613874
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Myopathy, Myofibrillar, 8
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:617258
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Abdomi... ORPHA:822
Overhydrated Hereditary Stomatocytosis
Fatigue, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis,... OMIM:185000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Prolonged ne... OMIM:300908
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Abnormal macrophage morphology, Elevated circula... ORPHA:353
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Elevated circulating creatine kinase concentrat... ORPHA:309169
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia OMIM:620195
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Elevated circulating creatine kinase conce... OMIM:620386
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613694
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Mitochondrial Myopathy, Infantile, Transient
Increased serum pyruvate, Hepatomegaly, Facial palsy, Elevated circulating creatine kinase concen... OMIM:500009
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... ORPHA:85451
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... ORPHA:293964
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613876
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle OMIM:614654
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Urinary incontinence, Centrally nucleated skeletal muscl... ORPHA:169189
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... OMIM:269920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... OMIM:253700
Oculopharyngodistal Myopathy 2
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... OMIM:618940
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Pain, Flexion contracture, Elevated circulating creatinine concentr... OMIM:616733
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of the abd... ORPHA:3055
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Flexion contracture, ... OMIM:300718
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se... OMIM:615248
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Mildly eleva... ORPHA:399086
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:255200
Oculopharyngeal Muscular Dystrophy
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... ORPHA:270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Fatigue, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dy... OMIM:253601
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, Macroorchidism, Umbilical h... ORPHA:284180
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet... ORPHA:488650
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Dpm3-Cdg
Dilated cardiomyopathy, Calf muscle hypertrophy, Chest pain, Muscular dystrophy, Pelvic girdle mu... ORPHA:263494
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Abdominal pain, Splenome... OMIM:210250
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Combined Oxidative Phosphorylation Deficiency 33
Fatigue, Hepatomegaly, Exercise intolerance, Elevated circulating creatine kinase concentration, ... OMIM:617713
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613153
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopathy, Limb-girdle... OMIM:612937
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secundum atrial sept... OMIM:614300
Myopathy, Myofibrillar, 2
Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl... OMIM:608810
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:248800
Congenital Myopathy 22A, Classic
Fatigue, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles ... OMIM:620351
Paget Disease Of Bone 6
Left ventricular hypertrophy, Bone pain OMIM:616833
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Decreased circulating I... OMIM:618278
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Clark-Baraitser syndrome
Macroorchidism, Obesity OMIM:300602
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Knee flexion contracture, Distal amyotroph... ORPHA:3208
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Elevated circulating creatine kinase... OMIM:619518
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Abdominal pain, Microangiopathic hemolytic anemia, Decreased serum creatinine, T... ORPHA:54057
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... ORPHA:254864
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Paraproteinemia, Upp... ORPHA:171442
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Cystic Echinococcosis
Fatigue, Hepatomegaly, Abnormal peritoneum morphology, Eosinophilia, Hepatic cysts, Abnormality o... ORPHA:400
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Glycogen Storage Disease Ixd
Exercise intolerance, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase... OMIM:300559
Polyembryoma
Abnormal peritoneum morphology, Macroorchidism, Irregular menstruation, Isosexual precocious puberty ORPHA:180229
Congenital Fibrinogen Deficiency
Cyanosis, Abdominal pain, Splenic rupture, Left ventricular hypertrophy, Right ventricular hypert... ORPHA:335
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy... OMIM:167320
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased circulating cre... OMIM:302045
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra... OMIM:617069
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Thro... ORPHA:64743
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Shoulder g... OMIM:603511
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Dilated cardiomyopathy, Increased variability in muscle fiber diameter, ... OMIM:611615
Isolated Polycystic Liver Disease
Back pain, Hepatomegaly, Polycystic liver disease, Abdominal pain, Abnormality of the pancreas, I... ORPHA:2924
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Sudden cardiac death, Endocardial fibrosis, Left ventricular hypertrophy... OMIM:608751
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy, Nonketotic hyperglycinemia ORPHA:401866
Cardiomyopathy, Dilated, 1V
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613697
Distal Myotilinopathy
Multiple joint contractures, Elevated circulating creatine kinase concentration, Cardiomyopathy, ... ORPHA:98911
Miyoshi Muscular Dystrophy 1
Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ... OMIM:254130
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Flexion contracture, Obesity, Macroorchidism, Male hypogonadism, Wrist flexion contracture OMIM:300055
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Shoulder flexion contracture, E... OMIM:619566
Mantle Cell Lymphoma
Fatigue, Splenomegaly, Lymphadenopathy ORPHA:52416
Cardiomyopathy, Familial Hypertrophic, 16
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Sudden cardiac death, Asymmetric septa... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613251
Peripartum Cardiomyopathy
Fatigue, Diabetes mellitus, Left atrial enlargement, Abdominal pain, Myocarditis, Dilated cardiom... ORPHA:563
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Lujan-Fryns Syndrome
Macroorchidism, Camptodactyly of finger ORPHA:776
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio... ORPHA:97240
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus... ORPHA:280356
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E... OMIM:619355
Central Core Disease
Multiple joint contractures, Elevated circulating creatine kinase concentration, Mitral valve pro... ORPHA:597
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N... OMIM:214900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... OMIM:608807
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Amyotrophic Lateral Sclerosis 21
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H... OMIM:606070
Fragile X Syndrome
Macroorchidism ORPHA:908
Cirrhotic Cardiomyopathy
Exercise intolerance, Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial en... ORPHA:57777
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... ORPHA:276556
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... ORPHA:79234
Hepatic Veno-Occlusive Disease
Hepatomegaly, Abdominal pain, Jaundice, Ascites, Increased total bilirubin ORPHA:890
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigue, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinas... ORPHA:42
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Exercise intolerance, Sideroblastic anemia, Hepatomegaly, Ragged-red muscle fibers, Generalized a... OMIM:613561
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Decreased HDL cholesterol concentration, Cardiomegaly, Acanthocyto... ORPHA:14
Cln3 Disease
Left ventricular hypertrophy, Vacuolated lymphocytes ORPHA:228346
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulating alpha-fetoprotein concentra... OMIM:251880
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r... OMIM:613204
X-Linked Sideroblastic Anemia
Fatigue, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis, Anemia ORPHA:75563
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Combined Oxidative Phosphorylation Deficiency 6
Increased serum pyruvate, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Exercise intolerance, EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin... OMIM:300717
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp... OMIM:615355
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... OMIM:619473
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology... ORPHA:75840
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he... OMIM:212140
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... OMIM:256030
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro... OMIM:160565
Mitochondrial Trifunctional Protein Deficiency
Exercise intolerance, Rigors, Rhabdomyolysis, Cholestasis, Cardiomyopathy, Skeletal myopathy, Mya... ORPHA:746
Combined Oxidative Phosphorylation Deficiency 28
Fatigue, Ragged-red muscle fibers, Increased serum pyruvate, Abdominal pain OMIM:616794
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine ... OMIM:617070
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Night sweats, Intrinsic hand muscle atrophy, Triceps ... OMIM:619574
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular septal hypertrophy, Asymmetric septal hypertrophy, Chest pain, ... OMIM:608758
Cardiomyopathy, Dilated, 1D
Increased circulating brain natriuretic peptide concentration, Sudden cardiac death, Dilated card... OMIM:601494
Bethlem Myopathy 2
Scapular winging, Elevated circulating creatine kinase concentration, Flexion contracture, Myopat... OMIM:616471
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Myopathy, Ragged-red muscle fibers OMIM:545000
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal mus... OMIM:607459
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Cardiomyopathy, Myofibri... OMIM:609452
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... OMIM:613752
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Conjugated hyperbilirubinemia, Jau... OMIM:613404
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Jaundice, Hyperammonemi... ORPHA:1667
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop... OMIM:616924
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Skeletal muscle atrophy, Decreased circulating ceruloplasmin concentration, Elevate... OMIM:616828
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Facial palsy, Mildly elevated creatine kinase, Proximal amyotrophy OMIM:610542
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... ORPHA:562
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:620265
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Elevated circulating creatine kinase concentration, ... OMIM:615368
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy ORPHA:444013
Atrial Fibrillation, Familial, 10
Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement OMIM:614022
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... OMIM:619256
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Chronic fatigue, Hypersplenism, Splenomegaly, Bone pain, Anemia, Hypocholesterolemi... OMIM:610539
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia, Impairment of ac... ORPHA:90065
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Hemolytic anemia, Acute pancreatitis, Portal hypertension, Pericardia... OMIM:619487
Drug-Induced Autoimmune Hemolytic Anemia
Fatigue, Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Abdominal... ORPHA:31150
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, Macroorchidism,... ORPHA:90790
Autosomal Dominant Progressive External Ophthalmoplegia
Fatigue, Exercise intolerance, Diabetes mellitus, Facial palsy, Elevated circulating creatine kin... ORPHA:254892
Hemochromatosis, Type 4
Fatigue, Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferri... OMIM:606069
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-like lysosomal pigmentation, Con... OMIM:208085
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Limb hy... OMIM:619170
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... OMIM:619042
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Hypertriglyceridemia, Maternal di... ORPHA:79083
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue, Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf mu... OMIM:613157
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... OMIM:608836
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Elevated circulating crea... OMIM:201475
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Hemolytic anemia, Elevated creatine kinas... ORPHA:57
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Elevated circulating creatine kinase concentration, Increa... OMIM:614399
Congenital Myopathy 24
Scapular winging, Facial palsy, Cardiomyopathy, Abnormal circulating creatine kinase concentratio... OMIM:617336
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontine... ORPHA:329478
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Childhood-Onset Nemaline Myopathy
Exercise intolerance, Scapular winging, Flexion contracture, Increased muscle lipid content, Gene... ORPHA:171439
Mogs-Cdg
Decreased circulating IgG level, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Decreased circul... ORPHA:79330
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... OMIM:603689
Congenital Dyserythropoietic Anemia Type Iii
Fatigue, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increa... ORPHA:98870
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Abdominal pain, Cardiomegaly, Splenomegaly, Increased circulatin... OMIM:235200
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuol... OMIM:256550
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... OMIM:619903
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Dupuytren contracture, Abdominal pain, Jaundice, Hepatosplenom... ORPHA:39812
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Ascites, Thrombocytopenia ORPHA:858
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Eleva... OMIM:607855
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Splenomegaly, Leukocytosi... OMIM:259720
Erythrocytosis, Familial, 1
Fatigue, Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit OMIM:133100
Creatine Phosphokinase, Elevated Serum
Fatigue, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, My... OMIM:123320
Relapsing Fever
Fatigue, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain, Leu... ORPHA:91547
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activ... OMIM:603553
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Autosomal Recessive Progressive External Ophthalmoplegia
Exercise intolerance, Scapular winging, Facial palsy, Elevated circulating creatine kinase concen... ORPHA:254886
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Cyanosis, Ventricular septal defect, Abnor... ORPHA:860
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo... ORPHA:2126
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter... ORPHA:1878
Symptomatic Form Of Hfe-Related Hemochromatosis
Fatigue, Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Diabetes mellitus, Portal hyper... ORPHA:465508
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... OMIM:261750
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration... ORPHA:424107
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Anem... OMIM:226670
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia, Abdominal pain OMIM:118830
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Enamel hypoplasia, Failure to thrive, Hypospadias OMIM:618874
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Abnormality of skeletal musc... ORPHA:2348
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Contractures of the large joints ORPHA:324410
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... OMIM:608340
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Pearson Syndrome
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt... ORPHA:699
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Fatigue, Exercise intolerance, Increased serum pyruvate, Ragged-red muscle fibers, Dilated cardio... ORPHA:1349
Biliary Atresia, Extrahepatic
Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atresia, Jaundice, Acholic stools, P... OMIM:210500
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly OMIM:618838
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,... ORPHA:308552
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myocardial fibrosis OMIM:613873
Danon Disease
Myocardial necrosis, Exercise intolerance, Elevated circulating creatine kinase concentration, Ca... OMIM:300257
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele... OMIM:620249
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske... OMIM:619790
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia OMIM:235555
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva... ORPHA:98855
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Back pain, Ascites, Polycystic liver disease, Increased total bilirubin OMIM:174050
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Giant cell hepatitis, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, ... ORPHA:79303
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Autoimmune Hepatitis
Viral hepatitis, Diffuse hepatic steatosis, Chronic fatigue, Abdominal pain, Splenomegaly, Fulmin... ORPHA:2137
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Combined Oxidative Phosphorylation Deficiency 49
Exercise intolerance, Ragged-red muscle fibers, Myalgia, Elevated circulating creatine kinase con... OMIM:619024
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, Mitral ... ORPHA:324604
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Exercise intolerance, Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left... OMIM:252011
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... OMIM:310440
Cardiomyopathy, Familial Hypertrophic, 11
Chest pain, Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Suba... OMIM:612098
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragged-red muscle fibers, Hyp... OMIM:618416
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art... OMIM:161800
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepatic steatosis, Hepatomega... OMIM:277900
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb muscle weaknes... OMIM:609560
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Abdominal pain, Splenomegaly, Lymphadenopathy, Hypocalcemia, ... ORPHA:100025
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Type II diabetes mellitus ORPHA:99725
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Facial palsy, Elevated circulating creatine kinase concentration, Generalized w... ORPHA:353327
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertroph... OMIM:619167
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Prolonged neonatal jaundice, Macroorchidism, Umbilical hernia, Failure ... ORPHA:90674
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... OMIM:603552
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Schnitzler Syndrome
Fatigue, Hepatomegaly, Splenomegaly, Leukocytosis, Bone pain, Lymphadenopathy, Increased circulat... ORPHA:37748
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Overlap Myositis
Proximal muscle weakness in upper limbs, Abnormal circulating lipid concentration, Diabetes melli... ORPHA:206572
Fabry Disease
Left ventricular hypertrophy, Anemia, Ventricular septal hypertrophy, Abdominal pain OMIM:301500
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypokalemia, Left ventricular hypertrophy, ... OMIM:615474
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:98853
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Hereditary Continuous Muscle Fiber Activity
Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl... ORPHA:972
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Dubin-Johnson Syndrome
Fatigue, Hepatomegaly, Abdominal pain, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abn... ORPHA:234
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Myal... OMIM:607685
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... ORPHA:565612
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Trisomy 20P
Inguinal hernia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Hernia, Macroorchidism, Um... ORPHA:261318
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Mitochondrial Dna Depletion Syndrome 11
Exercise intolerance, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-re... OMIM:615084
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva... ORPHA:98863
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Right ventricular dilatation, Myopathy, Abnormal circulating creatine kinase concen... ORPHA:369840
Cardiac-Valvular Ehlers-Danlos Syndrome
Fatigue, Abnormal heart valve morphology, Mitral valve prolapse, Atrial septal defect, Left ventr... ORPHA:230851
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Mitral valve ... OMIM:163800
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Anemia, Camptodactyly, Left ventricular hypertrophy, Thrombocytopenia OMIM:611209
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy OMIM:102200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... OMIM:613101
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent... ORPHA:206569
Glycogen Storage Disease Ixa1
Fatigue, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hyperchol... OMIM:306000
Polymyositis
Fatigue, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase concentration, Abnormal... ORPHA:732
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Idiopathic Congenital Hypothyroidism
Macroglossia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:95717
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... OMIM:615285
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression ORPHA:330054
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Elevated circulating creatine kinase concentration,... OMIM:242840
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatosp... OMIM:612526
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Night sweats, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteri... OMIM:209950
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigue, Hepatomegaly, Exercise intolerance, Facial hypotonia, Elevated circulating creatine kina... ORPHA:365
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Abnormal heart morphology, Camptodactyly of toe, Hyperglycemia,... OMIM:175700
Autoinflammation With Infantile Enterocolitis
Fatigue, Pancytopenia, Elevated circulating C-reactive protein concentration, Reduced natural kil... OMIM:616050
Alpha-Thalassemia-Myelodysplastic Syndrome
Fatigue, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Pancreatic islet-cell hyperplasia, Fas... ORPHA:263455
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic c... OMIM:614702
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets... ORPHA:681
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type... ORPHA:171433
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:616719
Leishmaniasis
Fatigue, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Night sweats, ... ORPHA:507
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulo... OMIM:557000
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Cirrhosis, Unconjugated h... OMIM:613280
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Exercise intolerance, Microcytic ane... OMIM:600462
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah... OMIM:607765
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase... OMIM:258450
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... OMIM:271500
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Fatigue, Hepatomegaly, Skeletal muscle atrophy, Exercise intolerance, Hypertriglyceridemia, Eleva... ORPHA:79240
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Depletion of mitoc... OMIM:618528
Glycogen Storage Disease Ii
Exercise intolerance, Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incont... OMIM:232300
Congenital Bile Acid Synthesis Defect Type 3
Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Cirrhosis, Hyperbilirubinemia ORPHA:79302
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Hypokalemia ORPHA:251274
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance OMIM:309620
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci... OMIM:618138
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect, Patent foramen ovale, Pate... ORPHA:1686
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Hip pai... ORPHA:52430
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Flexion contracture OMIM:309520
Caroli Disease
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Chills, Hepatomegaly... ORPHA:53035
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperp... OMIM:246200
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Thrombocytopenia... ORPHA:290
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Fatigue, Exercise intolerance, Diabetes mellitus, Ragged-red muscle fibers, Limb muscle weakness,... OMIM:609286
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Hypokalemia, Decreased circulating renin level ORPHA:320
Marburg Hemorrhagic Fever
Back pain, Elevated circulating creatine kinase concentration, Leukopenia, Arthralgia, Hypoalbumi... ORPHA:99826
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Elevated circulating long chain fatty acid concentration, Hyperbilirubi... OMIM:614886
Timothy Syndrome
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Patent ductus arteriosus, Sudden death, Hy... OMIM:601005
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Fatigue, Lymphadenopathy ORPHA:86893
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Abdominal pain, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenop... OMIM:618852
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper... OMIM:619046
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Fatigue, Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, He... ORPHA:300298
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Sudden cardiac death... OMIM:310300
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-... ORPHA:2298
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Abdominal pain, Splenomegaly, Leukocytosis, Splenic... OMIM:603903
Cole Disease
Hyperglycemia OMIM:615522
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals... OMIM:619424
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic aplasia OMIM:615935
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Exercise intolerance, Elevated circulating creatine kinase concentration, Ragged-red muscle fiber... ORPHA:352447
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Pancytopenia, Dilated cardiomyopathy OMIM:618321
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm... ORPHA:264580
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Increas... OMIM:274150
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Carney Complex
Pituitary growth hormone cell adenoma, Increased body weight, Leydig cell neoplasia, Abnormal spe... ORPHA:1359
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopath... OMIM:602541
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... OMIM:605814
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Abdominal pain, Leukocytosis, Schistocytosis, Peritonitis, Elevate... ORPHA:90038
Familial Cold Autoinflammatory Syndrome 2
Pharyngalgia, Elevated circulating C-reactive protein concentration, Abdominal pain, Splenomegaly... OMIM:611762
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter OMIM:616816
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... OMIM:616867
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Reynolds Syndrome
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Arthralgia, Ast... OMIM:613471
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... OMIM:613954
Coenzyme Q10 Deficiency, Primary, 1
Fatigue, Pancytopenia, Elevated circulating creatine kinase concentration, Ragged-red muscle fibe... OMIM:607426
Babesiosis
Fatigue, Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Leukopenia, Arthralgia, Myalgia,... ORPHA:108
Liver Failure, Infantile, Transient
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macrovesicular hepatic... OMIM:613070
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... ORPHA:79277
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus ORPHA:3085
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Small thenar eminence, Pulmonic stenosis, Camptodactyly, Left ventricul... OMIM:619148
Congenital Disorder Of Glycosylation, Type It
Fatigue, Hepatomegaly, Exercise intolerance, Ventricular septal defect, Elevated circulating crea... OMIM:614921
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Exercise intolerance, Elevated circulating creatine kinase concentration, Elevated circulating ac... ORPHA:228302
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... OMIM:620282
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Intrahepatic cholestasis, Hypophosphatemia, Hypokalemia, Hypergalacto... OMIM:227810
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Anemia, Thrombocytopenia OMIM:615085
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Mitral valve prolapse, Gen... ORPHA:171881
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulm... OMIM:616564
Gilbert Syndrome
Jaundice, Unconjugated hyperbilirubinemia OMIM:143500
Mucopolysaccharidosis, Type X
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp OMIM:619698
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Mcleod Syndrome
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D... OMIM:300842
Combined Oxidative Phosphorylation Defect Type 27
Pain, Ragged-red muscle fibers ORPHA:477774
Bethlem Myopathy
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... ORPHA:610
Congenital Aortic Valve Stenosis
Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocardial... ORPHA:3093
Primary Myelofibrosis
Fatigue, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomeg... ORPHA:824
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron... OMIM:619991
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice OMIM:619232
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Fabry Disease
Abnormal endocardium morphology, Fatigue, Abdominal pain, Hyperlipidemia, Arthralgia, Abnormal ao... ORPHA:324
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly OMIM:619064
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Mucolipidosis Type Ii
Hip contracture, Abnormal mitral valve morphology, Diastasis recti, Splenomegaly, Hepatosplenomeg... ORPHA:576
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... ORPHA:268
Mast Cell Sarcoma
Fatigue, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Myopathy With Lactic Acidosis, Hereditary
Exercise intolerance, Skeletal muscle atrophy, Sideroblastic anemia, Elevated circulating creatin... OMIM:255125
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Hepatic steatos... ORPHA:348
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Mildly elevated creatine kinase ORPHA:663
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Aortic Arch Interruption
Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv... ORPHA:2299
Mixed-Type Autoimmune Hemolytic Anemia
Fatigue, Autoimmune hemolytic anemia, Arthralgia, Increased total bilirubin ORPHA:90036
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Muscle hemorrhage, Abnormal heart morphology, Abnormality of the liver, Hyperbil... ORPHA:464321
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia, Prolonged neona... OMIM:214950
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... OMIM:308240
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Ventricular septal defect, Elevated circulating... OMIM:615673
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Foot dorsiflexor weakness, Abdominal pain, Ragged-red muscle fibers, Abnor... ORPHA:298
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... OMIM:602782
Familial Thyroid Dyshormonogenesis
Macroglossia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged ne... ORPHA:95716
Atrial Septal Defect, Ostium Primum Type
Fatigue, Exercise intolerance, Cyanosis, Left atrial enlargement, Right ventricular dilatation, L... ORPHA:99106
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugat... OMIM:619662
49,Xxxyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:261534
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Follicular Lymphoma
Fatigue, Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Night sweats,... ORPHA:545
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... OMIM:616479
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenit... OMIM:618886
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Cardiomyopathy, Myop... ORPHA:119
Immunodeficiency, Common Variable, 7
Pharyngalgia, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin leve... OMIM:614699
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Abdominal pain, Splenomegaly, Thrombocytopenia, Hyperammonemia, Cardiomyopathy, Neu... ORPHA:79312
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Myalgia, Hyperalaninemia, Hypertrophic car... OMIM:619051
Cranioectodermal Dysplasia 2
Hepatomegaly, Cholangitis, Splenomegaly, Patent ductus arteriosus, Biliary cirrhosis, Cholestasis... OMIM:613610
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Ep... OMIM:268800
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... OMIM:254090
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Idiopathic Pulmonary Hemosiderosis
Fatigue, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Pericardial effusion, ... OMIM:115197
Laubry-Pezzi Syndrome
Fatigue, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic... ORPHA:99094
Gaisböck Syndrome
Fatigue, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemogl... ORPHA:90041
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis ORPHA:363400
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakness of long finger extens... ORPHA:98913
Refsum Disease, Classic
Cardiomyopathy, Limb muscle weakness, Elevated circulating phytanic acid concentration, Cardiomegaly OMIM:266500
Pfapa Syndrome
Fatigue, Hepatomegaly, Abdominal pain, Splenomegaly, Lymphadenopathy, Arthralgia ORPHA:42642
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Patent ductus arteriosus, Flexion contrac... OMIM:616866
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb hypertonia, Lower limb muscle we... ORPHA:99013
Sézary Syndrome
Hepatomegaly, Skeletal muscle atrophy, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopat... ORPHA:3162
Adult-Onset Still Disease
Fatigue, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulat... ORPHA:829
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Beta-Thalassemia Major
Extramedullary hematopoiesis, Arthralgia, Hepatic fibrosis, Hepatomegaly, Hypoplasia of the muscu... ORPHA:231214
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Hsd10 Disease, Infantile Type
Cyanosis, Hypoglycemia, Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy ORPHA:391428
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly ORPHA:79237
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen, Anemia, Leukopenia,... OMIM:613845
Cholestasis-Lymphedema Syndrome
Fatigue, Hepatomegaly, Portal hypertension, Abdominal pain, Splenomegaly, Jaundice, Abnormality o... ORPHA:1414
Niemann-Pick Disease, Type A
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, L... OMIM:257200
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ... OMIM:617022
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... OMIM:620285
Car T Cell Therapy-Associated Cytokine Release Syndrome
Fatigue, Elevated circulating creatinine concentration, Hypoxemia, Myalgia, Hyperbilirubinemia ORPHA:542323
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Chest pain, Bacterial... ORPHA:615
Central Precocious Puberty In Male
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Wilson Disease
Back pain, Hepatomegaly, Splenomegaly, Jaundice, Bone pain, Hepatitis, Anemia, Proximal muscle we... ORPHA:905
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Arthralgia, Patent foramen ovale, Neonatal hyperbilirubinemia ORPHA:293939
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
Osteopetrosis, Autosomal Dominant 3
Fatigue, Hepatomegaly, Splenomegaly, Asthenia, Anemia OMIM:618107
Neutral Lipid Storage Myopathy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Hand muscle weakness, Fatty replacement of... ORPHA:98908
Bachmann-Bupp Syndrome
Hypoglycemia, Hyperbilirubinemia OMIM:619075
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis OMIM:605479
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Abdominal pain, Biliary hyperplasia, Splenomegaly, Jaundice, C... ORPHA:567983
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture, Elevated circulating creatine kinase concentration OMIM:620240
Ogden Syndrome
Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomeg... OMIM:300855
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Whipple Disease
Fatigue, Hepatomegaly, Pericarditis, Myositis, Hyponatremia, Abdominal pain, Splenomegaly, Myocar... ORPHA:3452
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Lathosterolosis
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S... OMIM:607330
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hypera... ORPHA:3008
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Ab... ORPHA:555874
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragm... OMIM:613309
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... ORPHA:178148
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ... ORPHA:231222
Kearns-Sayre Syndrome
Diabetes mellitus, Cardiomyopathy, Sideroblastic anemia, Ragged-red muscle fibers OMIM:530000
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrog... ORPHA:85212
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexion ... OMIM:619127
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abdomi... OMIM:615895
Optic Atrophy 11
Splenomegaly, Facial diplegia, Increased variability in muscle fiber diameter, Mildly elevated cr... OMIM:617302
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Abdominal pain OMIM:613662
Bardet-Biedl Syndrome 1
Diabetes mellitus, Insulin resistance, Biliary tract abnormality, Hepatic fibrosis, Left ventricu... OMIM:209900
Cold Agglutinin Disease
Fatigue, Hepatomegaly, Hemolytic anemia, Back pain, Splenomegaly, Lymphadenopathy, Arthralgia ORPHA:56425
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Snakebite Envenomation
Hyponatremia, Rhabdomyolysis, Muscle fiber necrosis, Pain, Thrombocytopenia ORPHA:449285
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... OMIM:617049
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia ORPHA:73272
Kasabach-Merritt Syndrome
Reticulocytosis, Abdominal pain, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopen... ORPHA:2330
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Fatigue, Cardiomegaly, Cardiomyopathy, Myalgia, Limb muscle weakness, Increased hepatic glycogen ... OMIM:619259
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hepatocellular carcinoma, Abnormal h... ORPHA:2088
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Acrocyanosis ORPHA:349
Deafness-Lymphedema-Leukemia Syndrome
Fatigue, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lym... ORPHA:3226
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirub... OMIM:614866
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia, Hyperammonemia ORPHA:664
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Anemia, Hypocalcemia, Hy... ORPHA:163979
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ascites OMIM:253250
Spinocerebellar Ataxia 28
Lower limb hypertonia, Ragged-red muscle fibers OMIM:610246
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Fumarase Deficiency
Intrahepatic cholestasis, Perimembranous ventricular septal defect, Hyperbilirubinemia, Ascites, ... OMIM:606812
Chronic Myeloid Leukemia
Fatigue, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder... ORPHA:521
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Skeletal muscle atrophy, Autoimmune hemolytic anemia, Splenomegaly, Flexi... OMIM:619183
Cinca Syndrome
Fatigue, Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concen... ORPHA:1451
Classic Hodgkin Lymphoma
Fatigue, Hepatomegaly, Splenomegaly, Bone pain, Lymphadenopathy, Chest pain, Bone marrow hypocell... ORPHA:391
Isolated Right Ventricular Hypoplasia
Fatigue, Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Hypoxemia, Atrial septal def... ORPHA:439
Portal Hypertension, Noncirrhotic, 2
Fatigue, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomega... OMIM:619463
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, ... OMIM:617156
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... ORPHA:600
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Flexion contracture... OMIM:617591
Senior-Boichis Syndrome
Portal hypertension, Malformation of the hepatic ductal plate, Congenital hepatic fibrosis, Chole... ORPHA:84081
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Hyperbilirubinemia, Cholestasis OMIM:609734
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Arthrogryposis mu... OMIM:608013
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline... ORPHA:528
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Th... OMIM:606003
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat... ORPHA:168577
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjugated hyperbilirubinemia, Cholest... ORPHA:30391
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Degcags Syndrome
Hepatomegaly, Pancytopenia, Ventricular septal defect, Congenital hypoplastic anemia, Patent duct... OMIM:619488
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Reduced number o... OMIM:614887
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:99330
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... OMIM:308230
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Decreased circulating total IgM, Insulin inse... OMIM:602668
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Flexion contracture, Thrombocytopenia, Anem... OMIM:617303
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, D... OMIM:615122
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Ragged-red muscle fibers, Facial palsy, Neonatal hypoglycemia OMIM:606407
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice ORPHA:95715
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Failure to thrive, Macroorchidism, Reduced subcutaneous adipose tissue OMIM:619950
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, ... OMIM:617093
Cholesteryl Ester Storage Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:278000
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosi... OMIM:613027
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ... OMIM:151660
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Intrahepatic Cholestasis Of Pregnancy
Abdominal pain, Abnormality of the pancreas, Jaundice, Cholecystitis, Hyperbilirubinemia, Increas... ORPHA:69665
Gamma-Heavy Chain Disease
Fatigue, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Th... ORPHA:100026
Griscelli Syndrome
Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,... ORPHA:381
Aortic Aneurysm, Familial Thoracic 10
Left ventricular hypertrophy, Bicuspid aortic valve OMIM:617168
Craniofaciofrontodigital Syndrome
Exercise intolerance, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... ORPHA:363705
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Splenomegaly, Mediastinal lymphadenopathy, Hypoxemia, Chest pain OMIM:612387
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Flexion contracture, Hypertrophic cardiomyopathy, Ascites OMIM:616897
Distal Deletion 12Q
Diabetes mellitus, Maturity-onset diabetes of the young, Patent ductus arteriosus, Elbow flexion ... ORPHA:96149
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Abnormal dental enamel morphology, Testi... ORPHA:744
Majeed Syndrome
Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flexion contracture, Bon... ORPHA:77297
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... ORPHA:79086
Yellow Fever
Low back pain, Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentrati... ORPHA:99829
Mixed Connective Tissue Disease
Fatigue, Hepatomegaly, Pericarditis, Myositis, Hemolytic anemia, Splenomegaly, Myocarditis, Media... ORPHA:809
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Primary Biliary Cholangitis
Fatigue, Abnormal circulating lipid concentration, Portal hypertension, Increased circulating IgA... ORPHA:186
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... OMIM:616239
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Fatigue, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Scle... ORPHA:562639
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, Pulmonic stenosis,... OMIM:616028
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Neonatal Lupus Erythematosus
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Thrombocytopenia, Di... ORPHA:398124
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Proximal amyotrophy, Mitral valve prolapse, Arthralgia, Muscle fiber s... OMIM:606408
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Myopathy, Thrombocytopenia ORPHA:169090
Fructose Intolerance, Hereditary
Hepatomegaly, Hypoglycemia, Abdominal pain, Jaundice, Bicarbonaturia, Hypophosphatemia, Hyperuric... OMIM:229600
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Legionnaires Disease
Fatigue, Hyponatremia, Pericarditis, Abdominal pain, Myocarditis, Splenomegaly, Jaundice, Hepatit... ORPHA:549
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Complete Atrioventricular Septal Defect
Hepatomegaly, Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septa... ORPHA:1329
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Decreased HDL cholesterol concentration, Elevated circulating C-reactive... OMIM:256040
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Bone pain, Arthralgia, Myeloid leukemia, Fatigue, Hepatomegaly, Neutrophilia, ... ORPHA:98849
Erythrocytosis, Familial, 2
Increased red blood cell mass, Fatigue, Increased hematocrit, Increased hemoglobin OMIM:263400
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycoge... OMIM:261740
Tempi Syndrome
Hypoxemia, Increased circulating IgG level, Increased hematocrit, Ascites, Polycythemia ORPHA:284227
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Triosephosphate Isomerase Deficiency
Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Ja... OMIM:615512
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529808
Aregenerative Anemia
Fatigue, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo... ORPHA:101096
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Right v... ORPHA:2041
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Thrombocytopenia, Hypocalcemia, Facial pa... OMIM:259700
Necrotizing Enterocolitis
Hyperglycemia, Peritonitis, Abnormal glucose homeostasis ORPHA:391673
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Mitochondrial Complex I Deficiency, Nuclear Type 1
Exercise intolerance, Hepatomegaly, Skeletal muscle atrophy, Cyanosis, Hypoglycemia, Splenomegaly... OMIM:252010
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Absence Of The Pulmonary Artery
Exercise intolerance, Cyanosis, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent ductus ar... ORPHA:980
Aspartylglucosaminuria
Hepatomegaly, Inguinal hernia, Splenomegaly, Macroorchidism, Umbilical hernia ORPHA:93
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Familial Aortic Dissection
Patent ductus arteriosus, Chest pain, Cardiomegaly ORPHA:229
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Abdominal pain, Pericardial effusion, Splenomegaly, Hypersplenism, Th... ORPHA:77259
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, S... ORPHA:280365
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology ORPHA:3068
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Neutropenia, ... ORPHA:163956
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple... OMIM:612541
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... ORPHA:769
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal defect, Inlet ... OMIM:619534
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Hypoglycemia, Ne... OMIM:619418
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Low back pain, Pancytopenia, Fatigue, Splenomegaly, Acute myelomonocytic ... ORPHA:86843
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... OMIM:275350
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Hypercapni... OMIM:164310
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ... ORPHA:466791
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... OMIM:267010
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Hyperkalemia, Viral infection-induced rhabdomy... ORPHA:99845
Mirizzi Syndrome
Abdominal colic, Abdominal pain, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinem... ORPHA:521219
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Abdominal pain... ORPHA:85414
Glycogen Storage Disease Xv
Scapular winging, Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance OMIM:613507
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... OMIM:214500
Dend Syndrome
Hyperglycemia ORPHA:79134
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... ORPHA:309854
Aspartylglucosaminuria
Macroorchidism, Hepatomegaly, Hernia OMIM:208400
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Melas
Exercise intolerance, Diabetes mellitus, Ragged-red muscle fibers, Dilated cardiomyopathy, Concen... ORPHA:550
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hypophosphatemia, Ty... OMIM:619743
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Vacuolated lymphocytes, Macroglossia OMIM:230000
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Autoimmune hemolytic anemia, Hypouricemia, Impaired ... OMIM:613179
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged n... ORPHA:90673
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Sudden car... OMIM:601214
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Hypoglycemia, Increased hepatocellular lipid droplets, Mic... OMIM:220111
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Bone pain, Aortic valv... OMIM:230800
Diamond-Blackfan Anemia
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, T... ORPHA:124
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia, Hypoglycemia, Neonatal hypoglycemia OMIM:613986
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skeletal muscle atrophy... OMIM:614162
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis OMIM:619484
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper co... OMIM:620306
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hepatomegaly, Skeletal muscle atrophy, Hepatic steatosis, Hypoglycemia, P... ORPHA:17
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Abdominal pain, Elevated circulating C-reactive ... OMIM:615688
Rajab Interstitial Lung Disease With Brain Calcifications 1
Exercise intolerance, Pancytopenia, Hypoglycemia, Portal hypertension, Cholestasis, Bile duct pro... OMIM:613658
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Thrombocytopenia, Flexion contracture, Reticulocytopenia... OMIM:227645
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... OMIM:616100
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Ab... ORPHA:2463
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro... OMIM:203800
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia OMIM:239200
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Fatigue, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Abdominal pain... OMIM:619475
Autoimmune Hemolytic Anemia, Warm Type
Fatigue, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Arthralgia ORPHA:90033
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Ragged-red muscle fibers, Cho... OMIM:614924
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Facial palsy, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice... OMIM:620186
Q Fever
Fatigue, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splen... ORPHA:781
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia OMIM:602579
Fontaine Progeroid Syndrome
Atrial septal defect, Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Patent... OMIM:612289
Aneurysm-Osteoarthritis Syndrome
Chronic fatigue, Camptodactyly of finger, Patent ductus arteriosus, Abnormal heart morphology, Pu... ORPHA:284984
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyol... OMIM:157640
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Postprandial hyperglycemia ORPHA:440713
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... OMIM:620278
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Hepatic fibrosis, Generalized amyotrophy, Hypoalbuminemia, Neopla... ORPHA:171
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R... ORPHA:99885
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Diabetes mellitus, Cardiomegaly, Neonatal alloimmune throm... ORPHA:51
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia,... ORPHA:37042
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital con... OMIM:619036
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos... OMIM:618935
Truncus Arteriosus
Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Patent ductus... ORPHA:3384
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Urinary incontinence, Upper-limb joint contracture, Distal amyotrophy, L... ORPHA:300605
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hypoglycemia, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabd... ORPHA:116
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... OMIM:248370
Lysinuric Protein Intolerance
Hepatomegaly, Skeletal muscle atrophy, Hypolysinemia, Splenomegaly, Thrombocytopenia, Increased c... OMIM:222700
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Urinary incontinence OMIM:609727
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Gaucher Disease Type 3
Fatigue, Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology,... ORPHA:77261
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... ORPHA:96191
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy ORPHA:79292
Congenital Fiber-Type Disproportion Myopathy
Fatigue, Hip contracture, Hypoplasia of the musculature, Ankle flexion contracture, Hypercapnia, ... ORPHA:2020
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl... ORPHA:258
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Mildly elevated creatine kinase, Thymoma, Proximal amyotrophy OMIM:159400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Rhabdomyolysi... ORPHA:79102
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy ORPHA:70595
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... OMIM:210710
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malformation of the hepati... OMIM:208540
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Myositis, Elevated circulating C-reactive protein concentration, Abdominal pain, Sp... ORPHA:32960
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Arthralgia, Neutrophilia, Abdo... ORPHA:3260
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Aortic valve atresia, Perimembrano... ORPHA:1457
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus ar... ORPHA:3427
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Bicuspid aortic valve, Chronic fatigue, Patent ductus arteriosus, Cystoc... OMIM:613795
Syndromic Diarrhea
Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Increased mean plate... ORPHA:84064
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic nerve hypoplasi... OMIM:603671
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:134
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Diastasis recti, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, M... OMIM:252500
Neuromuscular Oculoauditory Syndrome
Elevated circulating creatine kinase concentration, Knee flexion contracture, Calf muscle hypertr... OMIM:618733
Congenital Myasthenic Syndrome
Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mu... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mu... ORPHA:98914
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Normocytic anemia, Decreased circulating copper concentration, Sp... OMIM:300972
Cantú Syndrome
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Hip pain, Splenomegaly, Adenoiditis, Flexion contracture, Recurrent t... ORPHA:581
Hereditary Orotic Aciduria
Splenomegaly, Patent ductus arteriosus, Impaired T cell function, Anemia ORPHA:30
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Ge... OMIM:269700
Multiple Myeloma
Fatigue, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Bone pain, Elevated circul... ORPHA:29073
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circu... ORPHA:158048
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Cardiomegaly OMIM:105210
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Tropical Endomyocardial Fibrosis
Fatigue, Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, C... ORPHA:75565
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia ORPHA:88
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly ORPHA:158687
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia,... ORPHA:508542
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb... OMIM:600901
Neurooculorenal Syndrome
Dextrocardia, Conjugated hyperbilirubinemia, Mitral valve prolapse, Recurrent hypoglycemia, Tetra... OMIM:620305
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentratio... OMIM:276700
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Gaucher Disease
Fatigue, Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology,... ORPHA:355
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Exercise intolerance, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepatic steatos... OMIM:124000
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... OMIM:608594
Fanconi Anemia, Complementation Group D2
Pancytopenia, Thrombocytopenia, Patent ductus arteriosus, Annular pancreas, Reticulocytopenia, Ab... OMIM:227646
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227650
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Calcification of muscles, Bone pain ORPHA:53715
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Abnormality of ... ORPHA:1304
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Hyper-Igd Syndrome
Neutrophilia, Abdominal pain, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lympha... OMIM:260920
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyperplasia, Cardi... OMIM:130650
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Hyperuricemia, Anemia ORPHA:371
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Elevated circula... OMIM:613154
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Kikuchi-Fujimoto Disease
Fatigue, Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein conce... ORPHA:50918
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenomegaly, Hyperlip... OMIM:232220
Histiocytoid Cardiomyopathy
Exercise intolerance, Hepatomegaly, Cyanosis, Ventricular septal defect, Hypoglycemia, Cardiomegaly ORPHA:137675
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Elbow flexion contracture, Limb muscle weakness, Mitral valve prolapse, Wr... ORPHA:1900
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Ragged-red muscle fibers, Dilated cardiomyopathy, Low plasma citrulline, Hyperalani... ORPHA:255210
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Episodic abdominal pain, Hepatosplenomegaly, Lactescent s... OMIM:238600
Congenital Tracheomalacia
Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pu... ORPHA:95430
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... ORPHA:1677
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Abdominal pain, Ragged-red muscle fibers, Elevat... OMIM:603041
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J... OMIM:208500
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... ORPHA:97297
Johanson-Blizzard Syndrome
Hepatomegaly, Diabetes mellitus, Ventricular septal defect, Portal hypertension, Increased VLDL c... OMIM:243800
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Leprechaunism
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, I... ORPHA:508
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology ORPHA:2522
Porphyria, Congenital Erythropoietic
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concent... OMIM:263700
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Patent ductus arteriosus, Chest pain, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Choreoacanthocytosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Acanth... ORPHA:2388
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve... ORPHA:77293
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system ORPHA:231736
Atypical Werner Syndrome
Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... ORPHA:79474
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system OMIM:120200
Congenital Total Pulmonary Venous Return Anomaly
Fatigue, Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral at... ORPHA:99125
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... ORPHA:168572
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Hyperglycemia, Pancreatic hyp... OMIM:600001
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Microphthalmia, Syndromic 2
Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Septate vagina, Cryptor... OMIM:300166
Williams Syndrome
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomegaly, Arthralg... ORPHA:904
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cyanosis, Cardiomegaly, Pericardial effusion, Myocardial calcification, ... ORPHA:51608
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Neonatal hyperbilirubinemia OMIM:300896
Scorpion Envenomation
Glycosuria, Hyperglycemia, Acute pancreatitis, Hyperhidrosis ORPHA:466677
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Norrie Disease
Retinal detachment, Remnants of the hyaloid vascular system, Cachexia, Cryptorchidism, Optic atro... ORPHA:649
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:444077
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99413
Mosaic Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99226
Turner Syndrome
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:881
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot ORPHA:3472
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage OMIM:609049
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Neuroocular Syndrome
Umbilical hernia, Remnants of the hyaloid vascular system OMIM:619539
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Anterior pituitary agenesis OMIM:157170
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pfkm

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pfkm.

No publications found that use IMPC mice or data for Pfkm.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pfkmtm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Pfkmem1(IMPC)Mbp Exon Deletion Mice
Pfkmtm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pfkmtm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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