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Gene: Slc25a4 MGI:1353495

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Gene Summary

Name:
solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4
Synonyms:
adenine nucleotide translocase-1,  Ant1

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
increased circulating insulin level Slc25a4tm1a(EUCOMM)Wtsi HOM   Early adult 9.14×10-06
increased heart weight Slc25a4tm1a(EUCOMM)Wtsi HOM Early adult 2.37×10-14
increased blood urea nitrogen level Slc25a4tm1a(EUCOMM)Wtsi HOM Early adult 1.31×10-05
fusion of vertebral arches Slc25a4tm1a(EUCOMM)Wtsi HOM   Early adult 9.17×10-06
increased circulating alkaline phosphatase level Slc25a4tm1a(EUCOMM)Wtsi HOM Early adult 1.56×10-05
improved glucose tolerance Slc25a4tm1a(EUCOMM)Wtsi HOM   Early adult 2.07×10-11
increased circulating calcium level Slc25a4tm1a(EUCOMM)Wtsi HOM Early adult 6.38×10-25
decreased circulating chloride level Slc25a4tm1a(EUCOMM)Wtsi HOM Early adult 3.10×10-06

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Legacy Phenotype Associated Images
Slc25a4tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI
Slc25a4tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Slc25a4tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI
Slc25a4tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Slc25a4tm1a(EUCOMM)Wtsi
forearm, WT, Female, WTSI

View all 130 images

Slc25a4tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Slc25a4tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Slc25a4tm1a(EUCOMM)Wtsi
corneal vascularization, HOM, Female, WTSI

Human diseases caused by Slc25a4 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 Slc25a4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon c... OMIM:615418
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia... ORPHA:254892
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184

The table below shows human diseases predicted to be associated to Slc25a4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the vertebral column, Hypercalcemia, Delayed skeletal maturation, Wrist pain OMIM:191420
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Scapuloperoneal Myopathy, Myh7-Related
Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities, Weakness of facial musculature OMIM:181430
Adamantinoma
Hypercalcemia, Bone pain, Pathologic fracture ORPHA:55881
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Hyperparathyroidism 4
Hypercalcemia, Primary hyperparathyroidism, Parathyroid carcinoma, Osteopenia OMIM:617343
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Scapuloperoneal Myopathy, X-Linked Dominant
Myopathy, Skeletal muscle atrophy, Flexion contracture, Scapular winging, Myofibrillar myopathy, ... OMIM:300695
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hypochloremia, Hyponatremia, Hypokalemia OMIM:300971
Distal Myopathy, Welander Type
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... ORPHA:603
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic seizures, Hypoca... OMIM:618883
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... ORPHA:324575
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Myopathy, Distal, 4
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardiomyopathy, Distal lower lim... OMIM:614065
Blue Diaper Syndrome
Hypercalcemia, Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyro... ORPHA:94086
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Matern... ORPHA:276580
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... OMIM:608099
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Familial Isolated Hyperparathyroidism
Elevated circulating parathyroid hormone level, Hypercalcemia, Chondrocalcinosis, Hypophosphatemi... ORPHA:99879
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, Hypocalcemia DECIPHER:16
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal ... ORPHA:276575
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Hypochloremia, Hyperaldosteronism OMIM:214700
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Cardiomyopathy, Distal ... OMIM:609200
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles OMIM:609500
Parathyroid Carcinoma
Hypercalcemia, Parathyroid carcinoma, Hyperparathyroidism OMIM:608266
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture OMIM:208100
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... OMIM:203330
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellit... ORPHA:411593
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Spinal rigidity, Flexion contracture, Hypocal... OMIM:615883
Bethlem Myopathy 1
Ankle flexion contracture, Myopathy, Skeletal muscle atrophy, Torticollis, Camptodactyly of finge... OMIM:158810
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Osteoporosis, Gout, Hypercholest... OMIM:610947
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Osteoporosis, Scoliosis, Short neck, Delayed thelarche, Delayed pu... OMIM:616033
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Myopathy, Arthrogryposis multiplex congenita, Congenital muscular dystrophy OMIM:253900
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Lower limb pain OMIM:240150
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia ORPHA:71529
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... OMIM:605820
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertr... OMIM:612526
Hypophosphatemic Rickets And Hyperparathyroidism
Elevated circulating parathyroid hormone level, Hypercalcemia, Rickets, Hypophosphatemia, Hyperpa... OMIM:612089
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalcemic seizures, Pseud... ORPHA:94090
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... OMIM:615424
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Hypercalcemia, Calvarial osteosclerosis, Osteopen... OMIM:617994
Vitamin D-Dependent Rickets, Type 3
Elevated circulating parathyroid hormone level, Genu varum, Hypophosphatemia, Osteopenia, Hypocal... OMIM:619073
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614495
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response t... ORPHA:276556
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Decreased response to growth hormone stimulation test, Delayed skeletal maturation... OMIM:614732
Ocular Myopathy With Curare Sensitivity
Myopathy, Limb muscle weakness OMIM:257600
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:613090
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, ... ORPHA:399081
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Azotemia, Familial
Azotemia OMIM:109160
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria OMIM:614817
Myopathy With Giant Abnormal Mitochondria
Limb-girdle muscle atrophy, Myopathy OMIM:255140
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Osteopenia, Delayed skeletal maturation, Hyperin... OMIM:615363
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Hypercalcemia, Neoplasm of the thymus, Increased circulating cortisol le... ORPHA:97289
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy OMIM:609524
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614496
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Hypoparathyroidism, Familial Isolated, 1
Decreased circulating parathyroid hormone level, Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia OMIM:146200
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... ORPHA:178464
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Proximal muscle weakness i... OMIM:619216
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Hyperparathyroidism ORPHA:2668
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hyperactive renin-angiotensin system, Chondrocalcinosis, Hypokalemia, Increased se... OMIM:601678
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Hyper... ORPHA:280356
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Reduced bone mineral density, Splenomegaly, Delayed skeletal maturation, Hypocalcemia ORPHA:172
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... OMIM:500002
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Nemaline Myopathy 7
Nemaline bodies, Minicore myopathy, Myofibrillar myopathy OMIM:610687
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Cardiomyopathy, Fatty replacement of skeletal muscle OMIM:255100
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Hepatomegaly ORPHA:2123
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:602522
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Myopathy, Facial palsy OMIM:253320
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hepatomegaly, Diabetes mellitus, Insulin resistance ORPHA:79084
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Hyperparathyroidism OMIM:239199
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote... ORPHA:90794
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... OMIM:603233
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, F... ORPHA:171442
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Myopathy, Scapular winging, Muscle fiber splitting OMIM:618129
Ethanolaminosis
Cardiomegaly OMIM:227150
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Parathyroid carcinoma, Hurthle cell thyroid adenoma, Hyperparathyroidism, Parathyr... OMIM:145001
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Type II diabetes mellitus, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemiver... ORPHA:1436
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Situs inversu... OMIM:613686
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Maternal diabetes, Insulin-resistant diabetes mellitus, ... OMIM:604367
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Timothy Syndrome
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Tetralogy of Fallot, Hypothyroidism, Hypoc... OMIM:601005
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Hypocalcemic seizures, Parathyroid agenesis, Hypomagnesemia, Hypoc... ORPHA:2239
Hypophosphatasia
Hypercalcemia, Recurrent fractures, Craniosynostosis ORPHA:436
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... OMIM:606069
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metopic ridge, S... OMIM:309620
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Congenital Myopathy With Myasthenic-Like Onset
Myopathy, Minicore myopathy, Scapular winging, EMG: myopathic abnormalities, Multiple joint contr... ORPHA:424107
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Increased vari... OMIM:612937
Oculocerebrodental Syndrome
Hypercalcemia, Thoracic kyphosis, Hyperlordosis, Delayed skeletal maturation, Hypocalcemia, Scoli... ORPHA:557003
Hypophosphatasia, Infantile
Hypercalcemia, Decreased calvarial ossification, Increased susceptibility to fractures, Unossifie... OMIM:241500
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Oculoskeletodental Syndrome
Hypercalcemia, Hepatomegaly, Hypocalcemia, Splenomegaly, Thoracic kyphosis, Delayed skeletal matu... OMIM:618440
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Generalized amyotrophy, Flexion contracture OMIM:618323
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Pleoconial Myopathy With Salt Craving
Proximal amyotrophy, Myopathy OMIM:262900
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Hypercalcemia, Hepatomegaly, Calcinosis, Hypophos... OMIM:239200
Myopathy, Spheroid Body
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy OMIM:182920
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symphalangism, Carpal synosto... OMIM:610017
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy OMIM:602541
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles ORPHA:270
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:71526
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... ORPHA:266
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Infantile Myofibromatosis
Hypercalcemia, Chondrocalcinosis, Abnormal sacrum morphology, Limitation of joint mobility, Osteo... ORPHA:2591
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Primary hyperparathyroidism, Chondrocalcinosis OMIM:145981
Bethlem Myopathy 2
Scapular winging, Myopathy, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Hypercalcemia, Hypoglycemia, Generalized bone demineralization,... ORPHA:199299
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cardiomyopa... ORPHA:86812
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Craniosynostosis, Increased blood urea nitrogen, Recurrent fractures, Delayed pube... ORPHA:251004
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Hypercalcemia, Hypoglycemia, Increased circulating cortisol level, Insuli... OMIM:131100
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Elevated circulating creatine kinase concentration, Increased... ORPHA:231111
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Myopathy, Aminoaciduria ORPHA:33574
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, En... ORPHA:2298
Myopathy, Myofibrillar, 6
Hypertrophic cardiomyopathy, Generalized amyotrophy, EMG: myopathic abnormalities, Knee flexion c... OMIM:612954
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypocalcemia, Incre... OMIM:601198
2P21 Microdeletion Syndrome
Hypogonadism, Hypoglycemia, Hypocalcemia ORPHA:163693
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Chondrocalcinosis, Hypokalemia, Increased serum prostagland... OMIM:241200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Pelvic girdle muscle weakness, Facial palsy, EMG: myopathic abnormalities, Shoulder girdle muscle... OMIM:611307
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy OMIM:618234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Achilles tendon contracture... OMIM:606612
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Hypercholesterolemia, Hepatosplenomegaly, Hypergon... ORPHA:79237
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Myopathy OMIM:616321
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Abno... ORPHA:263455
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystroph... OMIM:608810
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... OMIM:618940
Rigid Spine Syndrome
Myopathy, Skeletal muscle atrophy, Hip contracture, Hamstring contractures, Elbow flexion contrac... ORPHA:97244
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia, Parathyroid adenoma, Hyperparathyroidism OMIM:145980
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Ab... ORPHA:99886
Hypercalcemia, Infantile, 1
Aortic valve stenosis, Infantile hypercalcemia, Pulmonic stenosis OMIM:143880
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:145750
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:144600
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... ORPHA:59135
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... ORPHA:34516
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Vertebral segmentation defect, Vertebral fusion OMIM:221950
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Facial palsy, Myopathy, Skeletal muscle atrophy, Flexion contracture OMIM:616313
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Shoulder girdle muscle atrophy, Sh... OMIM:167320
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Primary hyperparathyroidism, Hypermagnesemia,... OMIM:600740
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, Cardiomyopathy, EMG: myopathic abnormalities, Increased var... ORPHA:399058
Salih Myopathy
Dilated cardiomyopathy, Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Cen... OMIM:611705
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Vertebral fusion, Double outlet right ventricle, Sacral dimple, Hypoplasti... OMIM:618845
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly, Hypocalcemia OMIM:619658
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... ORPHA:276435
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Nemaline Myopathy 1
Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Nemaline bodies, D... OMIM:609284
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Insulin resistance, Hyp... ORPHA:528
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... OMIM:605355
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Addison Disease
Hyperkalemia, Decreased circulating aldosterone level, Hypoparathyroidism, Androgen insufficiency... ORPHA:85138
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Kyphosis, Hyperlordosis, Delayed skeletal maturation, Hypergonadotropi... ORPHA:3085
Fibrous Dysplasia Of Bone
Hypercalcemia, Precocious puberty in females, Thyroid carcinoma, Rickets, Increased circulating c... ORPHA:249
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture OMIM:201470
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Hypochloremia, Hypomagnesemia, H... ORPHA:89938
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemic seizures, Calvarial osteoscleros... ORPHA:93324
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Cardiomyopathy, Distal amyotrophy, ... ORPHA:98911
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Myopathy, Increased muscle lipid content, Cardiomyopathy OMIM:610717
Myopathy, Myofibrillar, 4
Autophagic vacuoles, EMG: myopathic abnormalities, Cardiomyopathy, Muscle fiber splitting, Myofib... OMIM:609452
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Vertebral fusion, Elevated circulating creatine kinase concentration, Ach... OMIM:607155
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypoparathyroidism, Hip contracture, Hypophosphatemia, Knee flexion contracture, P... OMIM:156400
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... ORPHA:97240
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose ... OMIM:248370
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Acute Adrenal Insufficiency
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Androgen insufficiency, Hypo... ORPHA:95409
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Osteoporosis, Delayed epiphyseal ossificati... ORPHA:785
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Abnormality of the cervical spine, Male hypogonadism, Hypergo... OMIM:307500
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kin... OMIM:600649
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... OMIM:616924
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Hypocalcemia ORPHA:100025
Myopathy And Diabetes Mellitus
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... ORPHA:2596
X-Linked Sideroblastic Anemia
Glucose intolerance, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Myopathy, Congenital contracture, Muscle fiber inclusion bodies OMIM:605637
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hyperinsulinemic h... ORPHA:71212
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Wormian ... OMIM:608612
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Paraganglioma ORPHA:94080
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Joint dislocation, Arthritis, Osteomyelitis, Genu valgum, Mandibular ... ORPHA:53
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Mitral valve prol... ORPHA:597
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness OMIM:603034
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Abnormal form of the vertebral bodies, Hypophosphatemia, Joint dislocation, Genu valg... ORPHA:93160
Spinal Muscular Atrophy, X-Linked 2
Myopathy, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture, Multiple joint c... OMIM:301830
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Antecubital pterygium, Fused cervical vertebrae, Short neck, Flexion contractu... OMIM:618469
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... OMIM:123320
Pseudohypoparathyroidism Type 1B
Elevated circulating parathyroid hormone level, Increased bone density with cystic changes, Hypoc... ORPHA:94089
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Reduced bone mineral density, Osteopenia OMIM:619489
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Vipoma
Adrenocortical adenoma, Hypercalcemia, Hepatomegaly, Hypokalemia, Increased circulating cortisol ... ORPHA:97282
Mandibuloacral Dysplasia
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Osteolytic defects ... ORPHA:2457
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Myopathy, Increased muscle lipid content, Ragged-red muscle fibers, Macroglossia, I... ORPHA:254864
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypoalbuminemia OMIM:602579
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance ORPHA:363400
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Pathologic fractu... ORPHA:29073
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Myopathy, Limb-girdle muscle weakness ORPHA:352470
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... ORPHA:97279
Leber Hereditary Optic Neuropathy
Myopathy ORPHA:104
Zollinger-Ellison Syndrome
Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Increased urinary cortis... ORPHA:913
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Insulin resistance, Elevated circulating creatine kinase concentration, Osteoporosi... OMIM:613327
Monosomy 13Q34
Insulin resistance, Osteochondrosis, Pulmonic stenosis, Infantile hypercalcemia, Common atrium ORPHA:96168
Brachydactyly, Type B1
Ventricular septal defect, Vertebral fusion, Hemivertebrae, Joint contracture of the hand, Hypopl... OMIM:113000
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Vertebral fusion, Hip contracture, Hemivertebrae, Craniosynostosis, Arthrogryp... OMIM:178110
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, Joint contracture of the ha... ORPHA:399086
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Pheochromocytoma OMIM:171420
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... ORPHA:230
Alstrom Syndrome
Dilated cardiomyopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Diabetes insipidus... OMIM:203800
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia, Cardiomegaly, Decreased circula... OMIM:618838
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... OMIM:603689
Hemochromatosis, Type 1
Testicular atrophy, Increased serum iron, Hepatomegaly, Glucose intolerance, Hypogonadotropic hyp... OMIM:235200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Nemaline Myopathy 8
Nemaline bodies, Facial palsy, Myofibrillar myopathy, Flexion contracture OMIM:615348
Glycogen Storage Disease Iii
Hepatomegaly, Myopathy, Ventricular hypertrophy, Cardiomyopathy, Distal amyotrophy OMIM:232400
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hypoalbuminemia ORPHA:79319
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:91130
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosp... ORPHA:405
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Myopathy OMIM:618236
Retinitis Pigmentosa
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po... OMIM:310300
Verheij Syndrome
Vertebral fusion, Hemivertebrae, Hip dislocation, Abnormal cardiac septum morphology, Short neck,... OMIM:615583
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... OMIM:608358
Somatostatinoma
Adrenocortical adenoma, Hypercalcemia, Hepatomegaly, Increased circulating cortisol level, Medull... ORPHA:97283
Nemaline Myopathy 2
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... OMIM:256030
Congenital Myasthenic Syndromes With Glycosylation Defect
Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Facial palsy, Knee flexion c... ORPHA:353327
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Myopathy, Muscle fiber atrophy, Muscular dystrophy, Limb-girdle muscular dystrophy ORPHA:369840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... ORPHA:488650
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Ventricular septal defect, Abnormal sacrum morphology, Abnor... ORPHA:2345
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness OMIM:605809
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Endocardial fibroelastosis, Cardiomegaly... OMIM:212140
Mastocytosis
Hypercalcemia, Hepatomegaly, Osteoporosis, Splenomegaly, Recurrent fractures ORPHA:98292
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia ORPHA:2238
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Sengers Syndrome
Hypertrophic cardiomyopathy, Myopathy OMIM:212350
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Cardiomyopathy ORPHA:26792
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cardiomyopathy, Widening of cervical spinal canal, Cervical v... OMIM:606842
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Short neck, Scoliosis, Low back pain OMIM:122600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities OMIM:608807
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:255120
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Hypocalcemia, Hyper... OMIM:606407
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Ventricular septal defect, Hypokalemia,... ORPHA:769
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Short neck,... OMIM:214300
Malignant Hyperthermia, Susceptibility To, 2
Myopathy, Viral infection-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis, Alcohol-induc... OMIM:154275
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... ORPHA:79086
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Muscular dystrophy,... OMIM:610099
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, EMG: myopathic abnormalities, ... ORPHA:370980
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Hypophosphatemia, Hypocalcemia, Osteomalacia, Bone pain ORPHA:89937
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen, Back pain, Hyperuricosuria ORPHA:94088
Hyperparathyroidism-Jaw Tumor Syndrome
Elevated circulating parathyroid hormone level, Hypercalcemia, Thyroid carcinoma, Chondrocalcinos... ORPHA:99880
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hypocalcemic seizures, Increased bone mineral... ORPHA:36913
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Hypocalcemia OMIM:179800
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... OMIM:618823
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Cardiomyopathy, Calf muscle hypertrophy, Increased varia... ORPHA:119
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Autosomal Recessive Progressive External Ophthalmoplegia
Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Facial palsy, Cardiomyopathy, Muscle fi... ORPHA:254886
Ppoma
Adrenocortical adenoma, Hypercalcemia, Hepatomegaly, Increased circulating cortisol level, Increa... ORPHA:97278
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia ORPHA:2849
Duchenne And Becker Muscular Dystrophy
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy ORPHA:262
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Hypercalcemia, Thyroid carcinoma, Parathyroid car... ORPHA:143
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... ORPHA:140286
Ring Chromosome 21 Syndrome
Diabetes insipidus, Abnormal heart morphology, Thoracic hemivertebrae, Fused thoracic vertebrae, ... ORPHA:1445
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... ORPHA:98855
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Right ventricular hypertrophy, Macroglossia, Achilles tendon contracture, Scapular winging, EMG: ... ORPHA:353
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Genu varum, Hypocalcemic seizures, Rickets, Enlar... ORPHA:289157
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe... OMIM:606176
Immune-Mediated Necrotizing Myopathy
Myocarditis, Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis... ORPHA:206569
Kenny-Caffey Syndrome, Type 1
Congenital hypoparathyroidism, Delayed closure of the anterior fontanelle, Calvarial osteoscleros... OMIM:244460
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Flexion contracture OMIM:310440
Malignant Hyperthermia, Susceptibility To, 3
Myopathy, Viral infection-induced rhabdomyolysis, Anesthetic-induced rhabdomylosis, Alcohol-induc... OMIM:154276
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypoparathyroidism, Abnormal heart morphology, Restrictive cardiomyopathy, Cranios... ORPHA:369837
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Myopathy, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Fl... ORPHA:272
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Myopathy, Skeletal muscle atrophy ORPHA:300179
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Hypoketotic hyp... ORPHA:26793
Myopathy, Centronuclear, 1
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... OMIM:160150
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... OMIM:255160
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal mus... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal mus... ORPHA:98853
Glucagonoma
Adrenocortical adenoma, Hypercalcemia, Hepatomegaly, Increased circulating cortisol level, Increa... ORPHA:97280
Oxoglutaric Aciduria
Skeletal muscle atrophy, Abnormality of Krebs cycle metabolism ORPHA:31
Kbg Syndrome
Vertebral fusion, Congenital malformation of the left heart, Thoracic kyphosis, Delayed skeletal ... ORPHA:2332
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Sandwich appearance of vertebral bodies, Osteopetrosis, Craniosynostosis, Calvarial... OMIM:259700
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Decreased fumarate hydratase activity, Cutaneous leiomyosarcoma OMIM:150800
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Congenital Muscular Dystrophy Due To Lmna Mutation
Myopathy, Skeletal muscle atrophy, Flexion contracture ORPHA:157973
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Pericardial effusion, Ventricular hypertroph... OMIM:115197
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Myopathy, Skeletal muscle hypertrophy ORPHA:2349
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Hyperglycemia, Hypogonadotropi... ORPHA:465508
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Grfoma
Adrenocortical adenoma, Pheochromocytoma, Hypercalcemia, Hepatomegaly, Neoplasm of the thymus, In... ORPHA:97261
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hepatomegaly, Type II diabetes mellitus, Hypoglycemia, Hypokalemia, ... ORPHA:88673
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Hypercalcemia, Scoliosis, Kyphosis ORPHA:476126
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Congenital hypoparathyroidism, Hypocalcemic seizures, Patchy osteosclerosis, Delayed skeletal mat... OMIM:241410
Hypophosphatemic Rickets
Elevated circulating parathyroid hormone level, Hypercalcemia, Rickets, Hypophosphatemia, Patchy ... ORPHA:437
Myopathy Due To Myoadenylate Deaminase Deficiency
Myopathy, Rhabdomyolysis, Skeletal muscle atrophy OMIM:615511
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Hypercalcemia, Extraadrenal pheochromocytoma, Paraganglioma, Paragangli... ORPHA:276621
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower li... ORPHA:98863
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Myopathy, Flexion contracture OMIM:618237
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Proximal lower limb amyotrophy, Sh... ORPHA:437572
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Reduced bone mineral... ORPHA:652
Keratoconus Posticus Circumscriptus
Short neck, Abnormal vertebral segmentation and fusion, Limited elbow extension and supination OMIM:244600
Myopathy Due To Malate-Aspartate Shuttle Defect
Myopathy OMIM:254960
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Hypercalcemia, Pheochromocytoma, Kyphoscoliosis, ... ORPHA:653
Hypokalemic Periodic Paralysis, Type 2
Myopathy OMIM:613345
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Skeletal muscle hypertrophy, Macroglossia, Achilles tendon contracture, Facial palsy, Joint contr... OMIM:608840
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Reduced bone mineral density, Intervertebral space narrowing, Vertebral fusion, Verte... ORPHA:93315
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower lim... ORPHA:397744
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy OMIM:618242
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Increased susceptibility to fractures, Joint dislocation, Hypoplastic heart, Fl... OMIM:312150
Myopathy, Congenital, With Tremor
Scapular winging, EMG: myopathic abnormalities, Flexion contracture OMIM:618524
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Myopathy, Skeletal muscle atrophy, Weakness of facial musculature ORPHA:254875
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achilles tendon con... ORPHA:254361
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Glycogen Storage Disease X
Myopathy, Rhabdomyolysis OMIM:261670
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Gener... ORPHA:352447
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Restrictive cardiomyopathy, Facial palsy, EM... OMIM:601419
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Hypercalcemia, Extraadrenal pheochromocytoma, Paraganglioma, Elevated c... ORPHA:29072
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... OMIM:255320
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Increased susceptibility to fractures, Joint dislocation, Hypoplastic heart, Fl... OMIM:253290
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Myofibrillar Myopathy 11
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... OMIM:619178
Ring Chromosome 10 Syndrome
Short neck, Hypocalcemia ORPHA:1438
Adult-Onset Distal Myopathy Due To Vcp Mutation
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... ORPHA:329478
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Mitral valve prolapse, Hypothyroidism, Hypocalcemia ORPHA:1563
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Osteoporosis, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Gorlin Syndrome
Vertebral fusion, Hemivertebrae, Vertebral wedging, Hypogonadotropic hypogonadism, Scoliosis ORPHA:377
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... ORPHA:171433
Amish Nemaline Myopathy
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, EMG: myopathic abnormalities,... ORPHA:98902
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Osteopetrosis, Platyspondyly, Hypocalcemia OMIM:618476
Double Outlet Right Ventricle
Ventricular septal defect, Hypoparathyroidism, Truncus arteriosus, Double outlet right ventricle,... ORPHA:3426
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Myopathy, Cardiomyopathy, Flexion contracture OMIM:616549
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... ORPHA:66637
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Butterfly vertebrae, Vertebral fusion, Scoliosis, Lumbar hyperlordosis ORPHA:313892
Donohue Syndrome
Fasting hypoglycemia, Hyperglycemia, Precocious puberty, Pancreatic islet-cell hyperplasia, Delay... OMIM:246200
Nemaline Myopathy 3
Dilated cardiomyopathy, Limb muscle weakness, Facial palsy, Arthrogryposis multiplex congenita, E... OMIM:161800
Myofibrillar Myopathy 10
Ankle flexion contracture, EMG: myopathic abnormalities, Knee flexion contracture, Left ventricul... OMIM:619040
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Osteoporosis, Hypogonadism, ... OMIM:612462
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Neuropathic arthropathy, Scoliosis, Increased bloo... OMIM:223900
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Pericardial effusion, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypothyro... OMIM:618183
Alkaptonuria
Vertebral fusion, Mitral valve calcification, Aortic valve calcification, Intervertebral disc deg... OMIM:203500
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Generalized amyotrophy, Facia... OMIM:602771
Pheochromocytoma
Hypercalcemia, Pheochromocytoma OMIM:171300
Acrodysostosis With Multiple Hormone Resistance
Elevated circulating parathyroid hormone level, Spinal canal stenosis, Congenital hypothyroidism,... ORPHA:280651
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Hemivertebrae, Abnormal form of the vertebral bodies, Kyphosis, Patellar disloc... ORPHA:2916
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia OMIM:235400
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic ... ORPHA:57
Kniest Dysplasia
Coronal cleft vertebrae, Vertebral wedging, Laryngotracheomalacia, Abnormal joint morphology, Del... ORPHA:485
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Myopathy, Distal arthrogryposis, Skeletal muscle atrophy, Cardiomegaly ORPHA:42
Carey-Fineman-Ziter Syndrome
Myopathy, Skeletal muscle atrophy, Facial palsy, Pectoralis hypoplasia, Abnormal cardiac septum m... OMIM:254940
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... ORPHA:486815
Oncogenic Osteomalacia
Abnormal vertebral morphology, Increased susceptibility to fractures, Hypophosphatemia, Pathologi... ORPHA:352540
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps weakness, Hip flexor wea... ORPHA:98913
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis, Skeletal myopathy, Hypertrophic cardiomyopathy OMIM:302060
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Osteomyelitis, Fused cervical vertebrae, Osteopenia, Splenomegaly, Elevated circula... OMIM:612852
Glycerol Kinase Deficiency
Muscular dystrophy, Myopathy OMIM:307030
Mcleod Syndrome
Dilated cardiomyopathy, Myopathy, Cardiomyopathy, Hepatosplenomegaly, Rhabdomyolysis OMIM:300842
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism, Fused cervical vertebrae ORPHA:238722
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Upper limb muscle weakness, Lower limb muscle weakness, EMG: myopathic abnormalities, Distal amyo... ORPHA:99939
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Hepatomegaly, Male hypogonadism, Increased blood u... ORPHA:90321
Williams Syndrome
Bicuspid aortic valve, Abnormal form of the vertebral bodies, Synostosis of joints, Increased bon... ORPHA:904
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Hyper... OMIM:151660
Adrenomyodystrophy
Myopathy OMIM:300270
Typical Nemaline Myopathy
Myopathy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture,... ORPHA:171436
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, EMG: myopathic abnormalities, ... OMIM:300257
Sanjad-Sakati Syndrome
Hypoparathyroidism, Congenital hypoparathyroidism, Spinal canal stenosis, Patchy osteosclerosis, ... ORPHA:2323
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Minicore myopathy, Arthrogryposis multiplex congenita, Fl... ORPHA:178148
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Aarskog-Scott Syndrome
Abnormal vertebral segmentation and fusion, Abnormality of the cervical spine, Genu recurvatum, C... ORPHA:915
Colchicine Poisoning
Myocarditis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal ... ORPHA:31824
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Ventricular hypertrophy, Shoulder girdle muscle weakness, Ventricular sept... ORPHA:263297
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Osteoporosis, Hypogonadism, ... OMIM:103580
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... ORPHA:75840
Autosomal Dominant Optic Atrophy Plus Syndrome
Myopathy, Limb-girdle muscle weakness, Cardiomyopathy ORPHA:1215
Frontometaphyseal Dysplasia 1