Gene Summary

Name:
aarF domain containing kinase 2
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal motor learning Adck2tm1.1(KOMP)Vlcg HOM   Early adult 5.38×10-05
increased circulating potassium level Adck2tm1.1(KOMP)Vlcg HOM   Early adult 9.01×10-06
hyperactivity Adck2tm1.1(KOMP)Vlcg HOM Early adult 3.90×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 66.67% (2 of 3)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 33.33% (1 of 3)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (3 of 3)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (3 of 3)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 66.67% (2 of 3)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (3 of 3)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (3 of 3)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (3 of 3)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (3 of 3)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 66.67% (2 of 3)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (3 of 3)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 3)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (3 of 3)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 33.33% (1 of 3)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 66.67% (2 of 3)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 33.33% (1 of 3)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (3 of 3)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (3 of 3)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 100% (3 of 3)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (3 of 3)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Sleep Wake

Wake state (bmp file)

8 Images

Adult LacZ

LacZ Images Section

46 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Electroretinography 2

Rod and cone PDF

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Adck2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Adck2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity, Cognitive impairment OMIM:238700
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... ORPHA:488650
Neutral Lipid Storage Disease With Myopathy
Short stature, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration,... OMIM:610717
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Myopathy, Distal, With Rimmed Vacuoles
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... OMIM:617158
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... OMIM:618655
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Mildly elevated creatine kinase, Hepatic steatosis, Impaired dista... OMIM:618400
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... ORPHA:206549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... OMIM:601954
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Failure to thr... OMIM:614480
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... OMIM:618848
Nemaline Myopathy 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt... OMIM:256030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Increased variability in muscle fiber diameter, Paresthesia, Centrally nucleated skeletal muscle ... OMIM:254110
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:619733
Inclusion Body Myositis
Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentration, Ragged-red ... ORPHA:611
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, Incre... OMIM:253601
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Calf muscle hypertrophy, Loss of gluteal subcutaneous adipose tissue, Reduced s... ORPHA:280356
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Lipodystrophy, Familial Partial, Type 6
Lower limb muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concentratio... OMIM:615980
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Eleva... OMIM:615424
Myopathy, X-Linked, With Postural Muscle Atrophy
Increased variability in muscle fiber diameter, Back pain, Achilles tendon contracture, EMG: myop... OMIM:300696
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Increased variability in muscle fiber diameter, Rhabdomyolysis, Centrally nucleated skeletal musc... OMIM:620138
Lipodystrophy, Congenital Generalized, Type 3
Short stature, Reduced subcutaneous adipose tissue, Hepatosplenomegaly, Hepatic steatosis, Lipody... OMIM:612526
Congenital Myopathy 14
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:618414
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Increased hepatic glycogen content, Hyperlipidemia, Hypercholester... OMIM:232700
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Increased variability in muscle fiber diameter, Somatic sensory dysfuncti... OMIM:616924
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Shor... OMIM:619042
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Acquired Partial Lipodystrophy
Glomerulopathy, Arthralgia, Hepatic steatosis, Myopathy, Lipoatrophy, Proteinuria, Microscopic he... ORPHA:79087
Oculopharyngodistal Myopathy 2
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... OMIM:618940
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Atrophic scars, Elevated cir... OMIM:616471
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Cellulitis, Abnormality of skeletal muscle fiber size, Pancreatitis, Hepatic stea... ORPHA:2348
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Myofibrillar Myopathy 11
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... OMIM:619178
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Progressive loss of facial adipose tissue, Hematuria, Membranoproliferative g... OMIM:608709
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Elevated urinary 3-hydroxybutyric acid, Cachexia, Elevated hepatic transam... ORPHA:42
Myopathy, Distal, Tateyama Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:614321
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... ORPHA:171442
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Failure to thrive, Increased level of methylsuccinic acid in urine, Myopathy, ... ORPHA:26792
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated ci... ORPHA:370
Tibial Muscular Dystrophy
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... ORPHA:609
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Oculopharyngodistal Myopathy 3
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... OMIM:619473
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... OMIM:160565
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Elevated circulating creatine kinase concentration, Organic... OMIM:255100
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Elevated c... ORPHA:435660
Alpha-B Crystallin-Related Late-Onset Myopathy
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... ORPHA:399058
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... OMIM:300717
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Flexion contracture, Increased muscle lipid conte... ORPHA:171439
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... OMIM:618129
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Duplicated collecting system... OMIM:617093
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissu... ORPHA:363400
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria, Failure to thrive OMIM:612718
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Elevated hepatic transaminase, Elevated circulati... OMIM:612937
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... OMIM:613204
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Hypertriglyceridemia, Obesity, Hypercholesterolemia OMIM:615703
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Elb... OMIM:619566
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipodystrophy, Skeletal muscle hypertrophy, Lipoatrophy, Hypertriglyceridemia OMIM:613877
Spinal Muscular Atrophy, Type Iv
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... OMIM:271150
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Mental deterioration OMIM:615924
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Abnormality of skeletal muscle fiber size, Pancreatitis, Hepatic steatosis, Myalgia, C... ORPHA:79083
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Postexertional symptom exacerbation, Short stature, Abnormality of t... ORPHA:369
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... OMIM:614399
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... OMIM:616228
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function, Hypercholesterolemia OMIM:616829
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615395
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... ORPHA:264580
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con... OMIM:613752
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin... OMIM:300718
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating alanine aminotransferase concentration, Left ventricular hypertrophy, Elevat... OMIM:619048
Glycine Encephalopathy
Impulsivity, Hyperactivity, Restlessness, Hyperglycinemia OMIM:605899
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Elevated circulating ... OMIM:619386
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Short stature, Increased intramyocellular lipid d... OMIM:619065
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Cidec-Related Familial Partial Lipodystrophy
Calf muscle hypertrophy, Loss of gluteal subcutaneous adipose tissue, Loss of facial adipose tiss... ORPHA:435651
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Severe short-limb dwarfism ORPHA:436182
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... OMIM:617760
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617113
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:610600
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular... OMIM:610198
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Urinary in... OMIM:617114
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:203400
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... OMIM:616313
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Primary Hyperoxaluria
Elevated urine glycolate, Gangrene, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disea... ORPHA:416
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Gait ataxia, Increased variability in muscle fiber diameter, Impaired distal vibration sensation,... OMIM:258450
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... OMIM:117000
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating alanine aminotransferase concentration, Renal tubular acidosis, Elevated hep... OMIM:255120
Myopathy, Distal, 7, Adult-Onset, X-Linked
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:301075
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... OMIM:611705
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Hyperchloremia, Hyperkalemia OMIM:614492
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... ORPHA:98905
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Chylomicron Retention Disease
Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Steatorrhea, EMG: myopath... ORPHA:71
Liddle Syndrome 3
Hypokalemia OMIM:618126
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Increased connective tissue, Skeletal muscle atrophy ORPHA:238329
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Short stature, Type 1 fibers relatively smaller than type 2 fibers, Myopat... OMIM:300580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... OMIM:608807
Congenital Muscular Dystrophy, Ullrich Type
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... ORPHA:75840
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Tubular Aggregate Myopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... ORPHA:2593
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:618484
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Argininosuccinic aciduria, Elevated circulating alanine aminotransferase concen... OMIM:603471
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Elev... OMIM:613157
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Chorea, Muscle fiber atrophy, Muscular dystro... ORPHA:369840
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy... ORPHA:1878
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating alanine aminotransferase concentration, Lower limb muscle weakness, Elevated... OMIM:617950
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Elevated circulating cre... OMIM:611615
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased variability in muscle fiber diameter, Hip pain, Fatty replacement of skeletal muscle, U... ORPHA:52430
Myopathy, Scapulohumeroperoneal
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... OMIM:616852
Myopathic Ehlers-Danlos Syndrome
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... ORPHA:536516
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Myofibrillar myopathy, Increased variability in muscle fiber diameter, Ca... OMIM:603689
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... OMIM:253700
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Cirrhosis, Jaundice, Abdominal pain, Acholic stools, Biliary tract abnormality,... ORPHA:1414
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform OMIM:302045
Rajab Interstitial Lung Disease With Brain Calcifications 2
Decreased muscle mass, Short stature, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ... OMIM:619013
Primary Hyperoxaluria Type 1
Recurrent urinary tract infections, Calcinosis, Stage 5 chronic kidney disease, Dysuria, Nephroca... ORPHA:93598
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:177735
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:612999
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:437572
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... OMIM:605637
Lipodystrophy, Congenital Generalized, Type 4
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:613327
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Episodic abdominal pain, Hepatic failure, Rhabdomyolysis, Elevated hepatic transaminase, Elevated... ORPHA:228305
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Peripor... OMIM:278000
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... ORPHA:353
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Failure... ORPHA:79303
Congenital Generalized Lipodystrophy
Cirrhosis, Adipose tissue loss, Macroglossia, Hepatic steatosis, Failure to thrive, Lipodystrophy... ORPHA:528
Congenital Myopathy 3 With Rigid Spine
Increased variability in muscle fiber diameter, Flexion contracture, Decreased body weight, Centr... OMIM:602771
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Increased variability in muscle fiber diameter, Multiple joint contractures, Centrally nucleated ... ORPHA:486815
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:556037
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... OMIM:618138
Congenital Myopathy 1B, Autosomal Recessive
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:255320
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Hypomagnesemia OMIM:618314
Ddost-Cdg
Nephrotic range proteinuria, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Fai... ORPHA:300536
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Hepatic steatosis, Failure to thrive, Hepatomegaly, Elevated circulating creatin... OMIM:617872
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Reduced subcutaneous adipose tissue, Adipose tissue loss, Increa... OMIM:151660
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Increased variability in muscle fiber diameter, Enamel hypoplasia, Short ... OMIM:226670
Primary Lipodystrophy
Cirrhosis, Pancreatitis, Hepatic steatosis, Lipodystrophy, Myalgia, Myopathy, Skeletal muscle hyp... ORPHA:90970
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hypospadias, Micronodular cirrhosis, ... OMIM:301045
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con... OMIM:615595
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Hepat... OMIM:615381
Proximal Myopathy With Extrapyramidal Signs
Chorea, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fiber... ORPHA:401768
Bardet-Biedl Syndrome 19
Hepatic steatosis, Renal hypoplasia, Renal insufficiency, Obesity, Hydronephrosis OMIM:615996
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration ORPHA:2382
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous adipose tissue, Hepa... OMIM:604367
Oculopharyngodistal Myopathy 4
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... OMIM:619790
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... ORPHA:34516
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Short stature, Elevated hepatic transaminase,... ORPHA:98907
Carnitine Deficiency, Systemic Primary
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Re... OMIM:212140
Wilson Disease
Cirrhosis, Back pain, Weight loss, Hepatitis, Jaundice, Elevated hepatic transaminase, Bone pain,... ORPHA:905
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Hypoesthesia, Impaired distal proprioception, Scapular winging, Gait ataxia, Increased variabilit... OMIM:607459
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Diffuse hepatic steatosis, Elevated hepatic transaminase... OMIM:264470
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... OMIM:613954
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hepatic necrosis, Elevated hepatic transaminase, Dic... ORPHA:71212
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:556030
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Lipodystrophy, Increased intraabdominal fat, Hyperlipidemia, Hepatomegaly, Hyp... ORPHA:79085
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Chronic... ORPHA:98908
Congenital Isolated Acth Deficiency
Hyperkalemia, Hyponatremia ORPHA:199296
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Myopathy, Centra... OMIM:618992
Ullrich Congenital Muscular Dystrophy 1
Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Cong... OMIM:254090
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Somatic sensory dysfunction, Short stature, Dysdi... ORPHA:502423
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Periportal fibrosis, Hepatocellular necrosis, Exercise-induced rhabdomyolys... OMIM:201475
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Chorea, Ataxia, Hepatic steatosis, Failure to thrive, Decreased liver function ORPHA:70472
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Multiple lipomas, Short stature, Dysdiadochokines... OMIM:617675
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, P... ORPHA:280365
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Lipoatrophy, Pancreatitis, Hepatomegaly ORPHA:79084
Primary Hyperoxaluria Type 3
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... ORPHA:93600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Flexion contracture, Camptodactyly, Lacticaciduria, F... OMIM:604273
Hemochromatosis, Type 4
Cirrhosis, Arthralgia, Hepatic steatosis, Hepatomegaly, Fatigue OMIM:606069
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Renal steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concent... OMIM:261680
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... OMIM:617072
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Gait ataxia, Increased variability in muscle fiber diameter, Enamel hypoplasia, Ataxia OMIM:617915
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Renal steatosis OMIM:261650
Dent Disease 2
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Proximal tubulopathy,... OMIM:300555
African Iron Overload
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Hepatocellular carcinoma, Hepa... ORPHA:139507
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Myopathy, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Rotor Syndrome
Intermittent jaundice, Porphyrinuria, Bilirubinuria, Storage in hepatocytes, Jaundice ORPHA:3111
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... ORPHA:2088
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Ketonuria, Glycosuria, Elevated hepatic transaminase, Failure to thrive, Hyperlipi... ORPHA:2089
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Decreased liver function, Glycosuria, Hyperphosphaturia, Diffuse hepatic steatosis... ORPHA:436271
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Renal Fanconi syndrome, Truncal ataxia, Glycosuria, Hyperphosphaturia, Increased i... OMIM:220110
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Decreased muscle mass, Paresthesia, Weight loss, Abdominal pain, Cachexia, Elevated he... ORPHA:298
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Rhabdomyolysis... OMIM:614921
Dpm1-Cdg
Knee flexion contracture, Hepatic fibrosis, Muscular dystrophy, Camptodactyly, Elevated hepatic t... ORPHA:79322
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Obesity, Hepatic steatosis, Cholestasis, Hypercholesterolemia,... ORPHA:209902
Lipoyltransferase 1 Deficiency
Alaninuria, Elevated hepatic transaminase, Lacticaciduria, Decreased liver function, Hyperglutami... OMIM:616299
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly OMIM:615238
Citrullinemia Type Ii
Hepatic fibrosis, Night sweats, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic ... ORPHA:247585
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Renal cell carcinoma, Dorsocervical fat... ORPHA:189427
Myoclonus, Intractable, Neonatal
Chorea, Increased variability in muscle fiber diameter, Athetosis OMIM:617235
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... OMIM:616812
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Calf muscle pseudohypertrophy, Myopathy, Acute pancreatitis, Genera... ORPHA:79086
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated ci... ORPHA:79240
Optic Atrophy 11
Increased variability in muscle fiber diameter, Short stature, Ataxia, Mildly elevated creatine k... OMIM:617302
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Elevated hep... ORPHA:189439
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy, Ataxia OMIM:125250
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatocellular carcinoma, Hepatic steatosis, Pain insensitivity, Hepatomegaly, Elevated circulati... OMIM:256810
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Elevated hepatic transaminase, Dicarboxylic aciduria, EMG: myopathic abnorm... ORPHA:99901
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:171876
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Increased variability in muscle fiber diameter OMIM:614096
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:245400
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Lacticaciduria, Failure to thrive, Weakness of facial musculature, Foot dors... OMIM:618811
Hyperoxaluria, Primary, Type I
Gangrene, Calcium oxalate nephrolithiasis, Hematuria, Acrocyanosis, Nephrocalcinosis, Renal insuf... OMIM:259900
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Flexion contracture, Proximal tubulopathy, Nephrotic syndrome, Abnormal subcuta... OMIM:212065
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Increased circulating free fatty acid level, Large for gestat... ORPHA:293964
Brown-Vialetto-Van Laere Syndrome 2
Generalized amyotrophy, Ataxia, Organic aciduria, Limb muscle weakness, Facial palsy OMIM:614707
Multiple Acyl-Coa Dehydrogenase Deficiency
Rhabdomyolysis, Polycystic kidney dysplasia, Elevated hepatic transaminase, Increased intramyocel... ORPHA:26791
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gest... ORPHA:567983
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Hepatic failure, Polycystic kidney dysplasia, Cystic renal dysplasi... ORPHA:228308
Porphyria Cutanea Tarda
Porphyrinuria, Periportal fibrosis, Stage 5 chronic kidney disease, Corneal scarring, Hepatic lob... ORPHA:101330
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture, Failure to thrive in infancy... OMIM:619026
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr... OMIM:613070
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Microvesicular hepatic st... OMIM:605814
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Portal fibrosis, Elevated circulatin... OMIM:614300
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Short stature, Beta 2-... OMIM:308990
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Jaundice, Polycystic kidney dysplasia, Ge... OMIM:231680
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Short stature, Skeletal muscle fibrosis, Achilles tendon contracture, Steatorrh... OMIM:616263
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Hepatomegaly OMIM:614741
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... ORPHA:119
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cir... OMIM:615486
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Knee flexion contracture, Hydronephrosis, Elevated circulating alanine aminotransferase concentra... OMIM:608836
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Flexion contracture, Spinal muscular atrophy, Ske... OMIM:616867
Adrenomyodystrophy
Short stature, Hepatic steatosis, Failure to thrive, Myopathy, Megacystis, Abnormality of the uri... ORPHA:977
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Renal insufficiency, Weight loss, Recurrent urinary tract infections, Stage 5 c... OMIM:619487
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis, Increased urinary copper concentration ORPHA:209919
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Type 1 fibers relatively smaller than type 2 fibers, Centrally nu... ORPHA:596
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomegaly, Acute hepatic ... OMIM:615438
Hemochromatosis Type 4
Cirrhosis, Abdominal pain, Arthralgia, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Agitation, Elevated circulating creatine kinase c... ORPHA:94093
Wilson Disease
Aminoaciduria, Hyperphosphaturia, Hepatocellular carcinoma, Hypoesthesia, Hepatic steatosis, Hepa... OMIM:277900
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Combined Oxidative Phosphorylation Deficiency 9
Tubulointerstitial nephritis, Elevated circulating alanine aminotransferase concentration, Elevat... OMIM:614582
Abetalipoproteinemia
Gait ataxia, Impaired distal proprioception, Hepatic fibrosis, Cirrhosis, Elevated hepatic transa... ORPHA:14
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Fai... OMIM:618805
Mandibuloacral Dysplasia
Contractures of the large joints, Increased circulating free fatty acid level, Increased adipose ... ORPHA:2457
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypospadias, Hyperlipidemia, Intrauterine growth retardation, Obesity, Arthrog... ORPHA:254346
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... ORPHA:171436
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Rhabdomyolysis, Increased intramyocellular lipid ... OMIM:255125
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... OMIM:620161
Peroxisome Biogenesis Disorder 1B
Hepatic fibrosis, Cirrhosis, Renal cyst, Hepatomegaly, Hyperoxaluria OMIM:601539
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Methioninuria, Hepatic steatosis, Failure to thrive, Inguinal hernia, Homocystinuria, Pancreatitis OMIM:236200
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Hepatic steatosis, Renal cyst, Myopathy, Renal hypoplasi... OMIM:614922
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hyperglycinuria, Medium chain dic... OMIM:201450
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Dicarboxylic aciduria, Hepatic steatosis, Growth delay, Myoglobinuria, Fulminan... OMIM:231530
Glycogen Storage Disease Xii
Muscle fiber splitting, Increased variability in muscle fiber diameter, Elevated circulating alan... OMIM:611881
D-Glyceric Aciduria
Chorea, Increased circulating free fatty acid level, Hyperglycinuria ORPHA:941
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia, Polydipsia OMIM:613677
Alstrom Syndrome
Tubulointerstitial nephritis, Short stature, Chronic active hepatitis, Elevated hepatic transamin... OMIM:203800
Gracile Syndrome
Cirrhosis, Hepatic steatosis, Cholestasis, Elevated hepatic iron concentration, Renal Fanconi syn... ORPHA:53693
Liddle Syndrome
Hypokalemia ORPHA:526
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, 3-Methylglutaconic aciduria, Flexion contracture,... ORPHA:17
Leigh Syndrome
Chorea, Hepatic failure, 3-Methylglutaconic aciduria, Multiple joint contractures, Renal tubular ... ORPHA:506
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Primary Hyperoxaluria Type 2
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... ORPHA:93599
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Limb hypertonia OMIM:615918
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Prox... OMIM:614302
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Intrauterine growth retardation, Lacticaciduria OMIM:619003
Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:427
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated circulating creati... OMIM:212138
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Aminoaciduria, Microvesicular hepatic steatosis, Rhabdomyolysis, Pe... OMIM:124000
Amyotrophic Lateral Sclerosis 21
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... OMIM:606070
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria OMIM:260000
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia OMIM:300971
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, 3-hydroxyisovaleric aciduria, Failure to thrive, Elevated urinary 3-methylcrotonylglyc... OMIM:210200
Dysbetalipoproteinemia
Hypercholesterolemia, Renal steatosis, Tendon xanthomatosis, Obesity, Hepatic steatosis, Acute pa... ORPHA:412
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gait ataxia, Increased variability in muscle fiber diameter, Impaired distal vibration sensation,... OMIM:157640
Mitochondrial Complex I Deficiency, Nuclear Type 26
Distal amyotrophy, Choreoathetosis, Limb hypertonia, Lacticaciduria OMIM:618247
Chanarin-Dorfman Syndrome
Hepatic steatosis, Ataxia, Myopathy, Hepatomegaly OMIM:275630
Progeria-Short Stature-Pigmented Nevi Syndrome
Paresthesia, Multiple joint contractures, Short stature, Small for gestational age, Neoplasm of t... ORPHA:2959
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cirrhosis, Microvesicular hepatic steatosis, Cholestatic liver disease, Polysplenia, Macronodular... OMIM:619418
Birk-Landau-Perez Syndrome
Increased circulating creatine kinase MB isoform, Hyperkalemia OMIM:617595
Fanconi Renotubular Syndrome 1
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaci... OMIM:134600
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Elevated h... OMIM:608594
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Lysosomal Acid Lipase Deficiency
Abnormal urine potassium concentration, Hepatic fibrosis, Hepatic failure, Microvesicular hepatic... ORPHA:275761
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Chorea, Short stature, Truncal ataxia, Elevated hepatic transaminase, Ataxia, Elevated circulatin... OMIM:615356
Autoimmune Hepatitis
Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steatosis, Elevated hepat... ORPHA:2137
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Limb-girdle muscle weakness, 3-Methylglutaconic aciduria, Rhabdomyolysis, Lower limb muscle weakn... OMIM:251900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Ketonuria, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Hypert... ORPHA:247598
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria OMIM:617184
Infantile Liver Failure Syndrome 3
Short stature, Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steato... OMIM:618641
Propionic Acidemia
Organic aciduria, Hepatomegaly ORPHA:35
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of 3-hydroxy-3-methylglutaric acid in urine, Organic aciduria, Increased level of... OMIM:246450
Familial Chylomicronemia Syndrome
Recurrent pancreatitis, Episodic abdominal pain, Decreased body weight, Jaundice, Hepatosplenomeg... ORPHA:444490
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Choreoathetosis, Elevated hepatic transaminase, Hepatic steatosis, R... ORPHA:445038
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
3-Methylglutaconic Aciduria, Type Viib
3-Methylglutaconic aciduria, Flexion contracture, Rhizomelia, Choreoathetosis, Ataxia, Hepatic st... OMIM:616271
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Hepatic failure, Ketonuria, Increased urine alpha-ketoglutarate c... OMIM:619355
Oculopharyngodistal Myopathy 1
Increased variability in muscle fiber diameter, Weight loss, Autophagic vacuoles, Ataxia, Elevate... OMIM:164310
Immunodeficiency 47
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Exocrin... OMIM:300972
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Choreoathetosis, Pancreatitis, Organic aciduria, Failure to thrive, Nonpr... ORPHA:431361
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Hepatocellular adenoma, Stage 5 chronic kidney disease, Enlarged kidney, Hepatocel... ORPHA:79259
Acute Adrenal Insufficiency
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Salt craving, Hypo... ORPHA:95409
East Syndrome
Hypokalemia, Increased circulating renin level, Salt craving, Hypomagnesemia, Polydipsia ORPHA:199343
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Failure to thrive in infancy ORPHA:6
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia ORPHA:403
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Flexion contractur... OMIM:616470
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Elevated h... OMIM:269700
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Lower limb ... ORPHA:397744
Dilated Cardiomyopathy With Ataxia
3-Methylglutaconic aciduria, Microvesicular hepatic steatosis, Diaphragmatic eventration, General... ORPHA:66634
Renal Hypoplasia, Bilateral
Hyperkalemia, Hyponatremia ORPHA:97362
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Nephrolithiasis, Calcium Oxalate
Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Elevated circ... OMIM:123320
X-Linked Adrenoleukodystrophy
Hyperactivity, Cognitive impairment, Dementia, Attention deficit hyperactivity disorder, Disinhib... ORPHA:43
Multiple Mitochondrial Dysfunctions Syndrome 1
Alpha-aminoadipic aciduria, Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Fa... OMIM:605711
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Stage 3 chronic kidney disease, Short stature, Type 2 muscle fiber predomin... OMIM:619743
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly, Elevated circulati... OMIM:600649
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... OMIM:619334
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hyperkalemia, Hypercalcemia, Hyponatremia ORPHA:199299
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, 3-hydroxydicarboxylic aciduria, Hepatic failure, Increased intramyocellular lipid dropl... OMIM:252010
Pearson Syndrome
Hepatic failure, Abnormality of the liver, Renal insufficiency, Small for gestational age, Glycos... ORPHA:699
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria OMIM:619063
Polymyositis
Weight loss, Abnormal renal tubule morphology, Abnormal muscle fiber morphology, Abdominal pain, ... ORPHA:732
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Fructose Intolerance, Hereditary
Transient aminoaciduria, Cirrhosis, Proximal tubulopathy, Glycosuria, Jaundice, Hyperphosphaturia... OMIM:229600
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Seckel Syndrome 10
Elevated circulating alanine aminotransferase concentration, Glycosuria, Elevated circulating asp... OMIM:617253
Mitochondrial Dna-Associated Leigh Syndrome
Gait ataxia, Chorea, Abnormality of Krebs cycle metabolism, Hepatic failure, Abnormal renal tubul... ORPHA:255210
Glutaric Acidemia Type 3
Failure to thrive, Glutaric aciduria, Abnormality of circulating enzyme level, Ketonuria ORPHA:35706
Mitochondrial Trifunctional Protein Deficiency
Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Rigors, Diffuse hepatic steatosis,... ORPHA:746
Multiple Carboxylase Deficiency
Organic aciduria, Limb muscle weakness, Ataxia ORPHA:148
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Ketonuria, Large fo... ORPHA:79644
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Generalized amyotroph... ORPHA:171881
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Weight loss, ... OMIM:619377
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:90791
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Lacticaciduria, Myalgia, Failure to thrive, Exercise intolerance,... OMIM:618250
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise ORPHA:423
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gait ataxia, Increased variability in muscle fiber diameter, Positive Romberg sign, Impaired dist... ORPHA:70595
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Hepatic failure, Microvesicular hepatic steatosis, Jaundice, 4-hydroxyphenylacetic aci... OMIM:617156
Ethylene Glycol Poisoning
Hypocalcemia, Alcoholism, Hyperkalemia ORPHA:31826
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Myopathy, Hepatomegaly OMIM:604377
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Microvesicular hepatic steatosis, 3-Methylglutaconic aciduria, Jaundice, Elevate... OMIM:203700
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Ketonuria, Jaundice, Elevated hepatic transaminase, Ataxia, Acute pancreatitis, Hepa... ORPHA:20
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Small for gestational age, Exercise-induced rhabdomy... ORPHA:26793
Arima Syndrome
Renal tubular atrophy, Hepatic fibrosis, Cirrhosis, Stage 5 chronic kidney disease, Renal sodium ... OMIM:243910
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber atrophy, Genera... OMIM:616866
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Left ventricular hypertrophy, Ataxia, Lacticaciduria, Left ventricular noncompaction, ... OMIM:619167
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Polydipsia ORPHA:231580
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... ORPHA:541423
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Dicarboxylic ac... OMIM:611126
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Short stature, Ataxia, Abnormal urine alpha-ketoglutarate ... ORPHA:31
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Right ventricular hypertrophy, Type 1 muscle fibe... OMIM:612949
Hyperoxaluria, Primary, Type Iii
Calcium oxalate nephrolithiasis, Hyperoxaluria OMIM:613616
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580