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
hyperactivity Adck2tm1.1(KOMP)Vlcg HOM Early adult 3.90×10-05
increased circulating potassium level Adck2tm1.1(KOMP)Vlcg HOM   Early adult 9.01×10-06

Download data as:  TSV  XLS

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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 0.0%
aorta 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

Adult LacZ

LacZ Images Section

46 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

8 Images

Embryo LacZ

LacZ images wholemount

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Eye Morphology

Images Slit Lamp

2 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
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Schizophrenia 15
Hyperactivity OMIM:613950
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor... ORPHA:602
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... OMIM:617158
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Impaired distal tacti... OMIM:618400
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Myoglobinuria, Calf muscle hypertrophy, Wrist flexion contracture, Upper l... ORPHA:206549
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:601954
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Elevate... ORPHA:266
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Shor... OMIM:614480
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F... OMIM:618848
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Fatty replacement of skeletal muscle, Rimmed vacuoles, S... OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Exercise-induced myalgia, Facial palsy, EMG: m... OMIM:254110
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Fatigue, Elevated circu... OMIM:253601
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Loss of gluteal subcutaneous adipose tissue, Loss of subcutane... ORPHA:280356
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnorm... ORPHA:369840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, EMG: myopathic abnormalitie... OMIM:608099
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Hyperlipidemia, Elevated circulating creatine kinase concentration, Skeletal ... OMIM:615980
Rhabdomyolysis, Susceptibility To, 1
Exercise intolerance, Type 2 muscle fiber predominance, Elevated circulating creatine kinase conc... OMIM:620235
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Exercise-induced myalgia, Rimmed vacuoles, Elevated circulating cr... OMIM:615424
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Wrist flexion contracture, Nemaline bodies, Elevated circulating creatine kinase concentration, L... OMIM:620386
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Generalized lipodystrophy, Short stature, Reduced subcutaneou... OMIM:612526
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Ele... OMIM:300696
Glycogen Storage Disease Vi
Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic tr... OMIM:232700
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Exercise intolerance, Elevated circulating hepatic transaminase concentration, Myoglobinuria, Exe... OMIM:620138
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Short stature, Increased variability in muscle fiber diameter, Hip contracture... OMIM:619042
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Hyperprolinemia, Type I
Hyperactivity, Hyperprolinemia, Motor stereotypy, Aggressive behavior OMIM:239500
Acquired Partial Lipodystrophy
Lipoatrophy, Glomerulopathy, Microscopic hematuria, Arthralgia, Proteinuria, Hepatic steatosis, M... ORPHA:79087
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Elevated circulating creatine kinase concentration, Mu... OMIM:609200
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Somatic sensory dysfunction, Distal sensory impairment, Lower limb amyotr... OMIM:616924
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Tibial Muscular Dystrophy
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ce... ORPHA:609
Nemaline Myopathy 2
Muscle fiber splitting, Calf muscle pseudohypertrophy, Rimmed vacuoles, EMG: myopathic abnormalit... OMIM:256030
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior OMIM:605899
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Fatigue,... OMIM:619178
Bethlem Myopathy 2
Atrophic scars, Scapular winging, Elevated circulating creatine kinase concentration, Increased v... OMIM:616471
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration... OMIM:618940
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Failure to thrive, Increased level of methylsuccinic acid in urine, Intrau... ORPHA:26792
Adult-Onset Nemaline Myopathy
Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn... ORPHA:171442
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Loss of truncal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue from ... OMIM:608709
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Hand muscle weakness... OMIM:614321
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Lipoatrophy, Glomerulopathy, Hepatomegaly, Pancreatitis, Abnormality of ske... ORPHA:2348
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Myopathy, Tubular Aggregate, 1
Exercise-induced myalgia, Elevated circulating creatine kinase concentration, Weakness of the int... OMIM:160565
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Elevated circulating creatine kinase concentration, Weakness of the intrinsi... OMIM:620286
Childhood-Onset Nemaline Myopathy
Exercise intolerance, Generalized limb muscle atrophy, Facial diplegia, Scapular winging, EMG: my... ORPHA:171439
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Elevated circula... OMIM:619473
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Scapular winging, Elevated circulating creatine kinase concentration, Bac... OMIM:618129
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Generalized lipodystrophy, Gait ataxia, Reduced su... ORPHA:363400
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v... ORPHA:399058
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:300717
Cerebral Creatine Deficiency Syndrome 3
Failure to thrive, Organic aciduria OMIM:612718
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Exercise intolerance, Organic aciduria, Elevated circulating creatine kinase concentration, Fatty... OMIM:255100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated circulating hepatic transaminase concentration, Rimmed vacuoles, Elevated circulating cr... OMIM:612937
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hyperactivity, Mental deterioration OMIM:615924
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Hepatic steatosis, Obesity, Hypercholesterolemia OMIM:615703
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Compulsive behaviors, Hyperactivity, Motor tics OMIM:619927
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Congenital Myopathy 10A, Severe Variant
Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Elevated circulating creatine ... OMIM:614399
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... OMIM:619566
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Proximal muscle weakness in upper limbs, Hepatomegaly, Loss of gluteal subc... ORPHA:435660
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Skeletal muscle hypertrophy, Lipodystrophy, Hepatic steatosis OMIM:613877
Spinal Muscular Atrophy, Type Iv
Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necrosis, Increas... OMIM:271150
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy... OMIM:620402
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:620542
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Abnormality of the kidney, Cirrhosis, Hepatomegaly, Elevated circulating hepatic... ORPHA:369
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating hepatic transaminase concentration, Hepatic steato... OMIM:616829
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Ragged-red muscle fibers, Scapular winging, Muscle fiber tubular inclus... OMIM:616228
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Elevated circulating hepatic trans... ORPHA:264580
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Cirrhosis, Hepatomegaly, Pancreatitis, Abnormality of skeletal... ORPHA:79083
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Congenital Myopathy 14
Knee flexion contracture, Abnormal circulating creatine kinase concentration, Elbow flexion contr... OMIM:618414
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating alanine aminotransferase c... OMIM:613752
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, Attention deficit hyperact... OMIM:619827
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated c... OMIM:619386
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Increased urine succinate level, Elevated circulating alanine aminotransferase conc... OMIM:619048
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Elevated circulating creatine kinase concentration, Increased variability in mus... OMIM:300718
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Severe short-limb dwarfism ORPHA:436182
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Short stature, Increased variability in muscle fiber diameter, Ataxia, Increased intramyocellular... OMIM:619065
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr... OMIM:617760
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
3-Methylglutaconic Aciduria, Type V
Postnatal growth retardation, 3-Methylglutaconic aciduria, Hypospadias, Microvesicular hepatic st... OMIM:610198
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Abdominal pain, Calf muscle hypertrophy, Triceps weakness, Elevated circulati... ORPHA:86812
Myopathy, Myofibrillar, 7
Urinary incontinence, Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexi... OMIM:617114
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypomagnesemia, Self-biting, Hypokalemia OMIM:618314
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Primary Hyperoxaluria
Elevated circulating hepatic transaminase concentration, Aciduria, Hematuria, Calcium oxalate nep... ORPHA:416
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Self-mutilation, Aggre... OMIM:615516
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari... OMIM:117000
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Abnormal Z disk morphology, Increased variability in... OMIM:618654
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap... OMIM:301075
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... OMIM:616313
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hyperchloremia OMIM:614492
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Exercise intolerance, Ragged-red muscle fibers, Positive Romberg sign, Truncal ataxi... OMIM:258450
Phenylketonuria
Hyperactivity, Hyperphenylalaninemia, Compulsive behaviors, Attention deficit hyperactivity disor... OMIM:261600
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dicarboxylic ... OMIM:605911
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Increased connective tissue, Skeletal muscle atrophy ORPHA:238329
Congenital Myopathy 5 With Cardiomyopathy
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Increased variabilit... OMIM:611705
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Pancreatitis, Argininosuccinic aciduria, Portal inflammation, Hepatocellula... OMIM:603471
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:618484
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Exercise-induced myalgia, Fa... OMIM:255320
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi... ORPHA:2593
Congenital Multicore Myopathy With External Ophthalmoplegia
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... ORPHA:98905
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Decreased body weight, Facial palsy, Short stature, Type 1 fibers rela... OMIM:300580
Ullrich Congenital Muscular Dystrophy
Torticollis, Elbow flexion contracture, EMG: myopathic abnormalities, Elevated circulating creati... ORPHA:75840
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Elevated circ... OMIM:603689
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Scarring alopecia of scalp, Short stature, Increased ... OMIM:226670
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:620265
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle... OMIM:620249
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Elevated circulating cr... OMIM:613157
Combined Oxidative Phosphorylation Deficiency 36
Exercise intolerance, Aciduria, Elevated circulating alanine aminotransferase concentration, Fail... OMIM:617950
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hip pain, Rimmed vacuoles, EMG: myopathic abnormalities, Elevated circulating creatine kinase con... ORPHA:52430
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentrat... OMIM:608807
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Sk... ORPHA:435651
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Exercise intolerance, Elevated circulating hepatic transaminase concentrati... OMIM:619013
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Distal sensory impairment, Elevated circulating creatine kinase concentration, Increased variabil... OMIM:151800
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Elevated circulating cre... OMIM:611615
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Elevated circulating creatine kinase concentration, Increased va... OMIM:613204
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, Ren... OMIM:255120
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... ORPHA:1878
Myopathy, Scapulohumeroperoneal
Scapular winging, Facial palsy, Nemaline bodies, Increased variability in muscle fiber diameter, ... OMIM:616852
Primary Hyperoxaluria Type 1
Calcinosis, Hematuria, Decreased glomerular filtration rate, Recurrent urinary tract infections, ... ORPHA:93598
Myopathic Ehlers-Danlos Syndrome
Exercise intolerance, Ankle flexion contracture, Weakness of facial musculature, Foot joint contr... ORPHA:536516
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Chylomicron Retention Disease
Steatorrhea, Impaired proprioception, Elevated circulating hepatic transaminase concentration, EM... ORPHA:71
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle... OMIM:618138
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Exercise intolerance, Muscular dystrophy, Hepatomegaly, Elevated circulatin... OMIM:613327
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Bone pain, Abdominal pain, Hyperlipidemia, Portal hypertension... ORPHA:1414
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Congenital Myopathy 20
Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in muscle fiber ... OMIM:620310
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform OMIM:302045
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Elevated circulating creatine kinase concentration, Increas... OMIM:612999
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Decreased body... OMIM:602771
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Exercise intolerance, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Myog... ORPHA:228305
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Cirrhosis, Hepatomegaly, Periportal fibrosis, Portal hypertens... OMIM:278000
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Chorea, Increased variability in muscle fiber diameter, Ce... ORPHA:401768
Congenital Myopathy 18
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:620246
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Steatorrhea, Jaundice, Elevated circulating hepatic transaminase co... ORPHA:79303
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Congenital Myopathy 6 With Ophthalmoplegia
Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Increased variability in... OMIM:605637
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Nephrotic range proteinuria, Short statu... ORPHA:300536
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Skeletal muscle hypertrophy,... ORPHA:528
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Delayed puberty, EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in mus... ORPHA:486815
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scapular winging, Upper limb muscle weakn... ORPHA:353
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Hepatic steatosis... OMIM:617872
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Increased intramuscular fat, Loss of tr... OMIM:151660
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Generalized limb muscle atrophy, Hepatomegaly, Chronic pancreatitis, Elevat... ORPHA:98908
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Loss... OMIM:615381
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Reduced muscle carnitine l... OMIM:212140
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneou... OMIM:604367
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... ORPHA:34516
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Elevated circulating creatine... OMIM:619790
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hypokalemia ORPHA:682
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:264470
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Myoglobinuria, Mi... ORPHA:71212
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, EMG:... ORPHA:98907
Glycogen Storage Disease Vii
Exercise intolerance, Increased muscle glycogen content, Jaundice, Exercise-induced myoglobinuria... OMIM:232800
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,... OMIM:254090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopa... OMIM:618992
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Positive Romberg sign, Impaired distal vibration sensation, Gait ataxia, Centrally nucleated skel... OMIM:607459
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, Progressive cerebellar ataxia, Lipoma, Dysdiadochokinesis, EMG... ORPHA:502423
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Elevated circulating creatinine concentration OMIM:620366
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Limb... OMIM:613954
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Failure to thrive... OMIM:617228
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Exercis... OMIM:201475
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Pain, Abnormali... ORPHA:93600
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Chorea, Failure to thrive, Ataxia, Hepatic steatosis ORPHA:70472
Diarrhea 13
Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase concentration OMIM:620357
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ... OMIM:617066
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Distal sensory impairment, Truncal ataxia, Distal amyotrophy, Dysdiadochokinesis, El... OMIM:617675
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Hepatomegaly, Camptodactyly, Failure to thrive, Renal hypoplasia, Fl... OMIM:604273
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Lipoatrophy, Hepatomegaly, Pancreatitis, Skeletal muscle hypertrophy, Loss ... ORPHA:280365
Hyperlysinemia, Type I
Hyperactivity, Short attention span, Hyperlysinemia, Cognitive impairment, Hypoornithinemia OMIM:238700
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Renal steatosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentra... OMIM:261680
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:79084
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Renal steatosis, Hepatic steatosis, Hepatic failure OMIM:261650
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Fatigue, Arthralgia, Hepatic steatosis OMIM:606069
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Elevated circulating creatine kinase concentration... OMIM:617072
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Bardet-Biedl Syndrome 19
Renal insufficiency, Renal hypoplasia, Obesity, Hydronephrosis, Hepatic steatosis OMIM:615996
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Myopathy OMIM:618234
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... OMIM:241150
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Renal tubular dysfunction, Skeletal muscle steatosis, Fai... ORPHA:436271
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Exercise intolerance, Intrahepatic cholestasis, Elevated circulating hepatic tra... OMIM:614921
Mitochondrial Dna Depletion Syndrome 18
Distal amyotrophy, Failure to thrive, Hand muscle atrophy, Elevated urinary quinolinic acid level... OMIM:618811
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia OMIM:617915
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Generalized aminoaciduria, Increased hepatic glycogen content... ORPHA:2088
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Short stature, Failure t... ORPHA:2089
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato... ORPHA:298
Dpm1-Cdg
Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevat... ORPHA:79322
Lipoyltransferase 1 Deficiency
Decreased liver function, Elevated circulating hepatic transaminase concentration, Hyperglutaminu... OMIM:616299
Hyperoxaluria, Primary, Type I
Hematuria, Calcium oxalate nephrolithiasis, Bone pain, Hyperoxaluria, Nephrocalcinosis, Acrocyano... OMIM:259900
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Increased intraabdominal fat, Lipodystrophy, Hepatic steatosis ORPHA:79085
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Exercise intolerance, Hepatomegaly, Truncal ataxia, Failure to thrive, ... OMIM:220110
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concen... ORPHA:94093
Citrullinemia Type Ii
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... ORPHA:247585
Optic Atrophy 11
Facial diplegia, Athetosis, Short stature, Increased variability in muscle fiber diameter, Fiber ... OMIM:617302
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Hep... ORPHA:209902
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Hepatic steatosis, Lipodystrophy OMIM:615238
Generalized Pseudohypoaldosteronism Type 1
Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:171876
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, EMG: myopathic ab... ORPHA:99901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Exercise intolerance, Muscular dystrophy, Muscle fiber necrosis, Elevated circulating creatine ki... OMIM:616812
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Athetosis, Chorea OMIM:617235
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Panniculitis, Generalized lipodystrophy, Calf musc... ORPHA:79086
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Hyperlipidemia, Nephrolithiasis, Increased urinary cortisol level, Renal c... ORPHA:189427
Congenital Myopathy 4A, Autosomal Dominant
Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal m... OMIM:255310
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Exercise intolerance, Hepatomegaly, Chronic pancreatitis, Elevated circulat... OMIM:610717
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cholestasis, Prolonged neonatal jaundice, Acute hepatic failure, Ataxia, Micronodular cirrhosis, ... OMIM:256810
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Hyperactivity, Aggressive behavior OMIM:301013
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he... OMIM:212065
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating alanine aminotransferase concentration, Growth delay, Failure to thrive, Ske... OMIM:245400
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Exercise intolerance, Glutaric aciduria, Hepatomegaly, Elevated circula... ORPHA:26791
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Ataxia, Myopathy OMIM:125250
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Medium chain dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:201450
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ... ORPHA:101330
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Renal insufficiency, Myog... ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive OMIM:614096
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria, Facial palsy, Limb muscle weakness, Generalized amyotrophy, Ataxia OMIM:614707
Congenital Myopathy 22A, Classic
Ragged-red muscle fibers, Scapular winging, Congenital finger flexion contractures, Limb muscle w... OMIM:620351
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Postnatal growth retardation, Steatorrhea, Hepatomegaly, Skeletal muscle fibrosi... OMIM:616263
Obesity And Hypopigmentation
Obesity, Hepatic steatosis OMIM:620195
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Cirrhosis, Increased urinary copper concentration, Hepatic steatosis ORPHA:209919
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h... OMIM:615438
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Growth delay, Increased variability in muscle fiber diameter, Failure to thrive in infancy, Flexi... OMIM:619026
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Flexion contracture, Ske... OMIM:616867
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Portal fibrosis, Macrovesicular hepati... OMIM:605814
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Polyc... OMIM:231680
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Cholestasis, Elevated circulating creatine kinase concentration, Elevated circul... OMIM:614300
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis OMIM:601539
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glomerular sclerosis, Rena... OMIM:619487
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic tra... OMIM:608836
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Organic aciduria OMIM:614741
Adrenomyodystrophy
Abnormality of the urinary system, Short stature, Failure to thrive, Megacystis, Hepatic steatosi... ORPHA:977
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypokalemia OMIM:618126
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Generalized amin... OMIM:251880
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
X-Linked Centronuclear Myopathy
Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ... ORPHA:596
Congenital Myopathy 15
Camptodactyly, Increased variability in muscle fiber diameter, Weakness of facial musculature, Fa... OMIM:620161
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Incre... ORPHA:119
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
19P13.12 Microdeletion Syndrome
Hypospadias, Hyperlipidemia, Obesity, Intrauterine growth retardation, Arthrogryposis multiplex c... ORPHA:254346
Abetalipoproteinemia
Steatorrhea, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Di... ORPHA:14
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Failure ... OMIM:618805
Macrocephaly-Intellectual Disability-Autism Syndrome
Multiple lipomas, Hepatic steatosis, Penile freckling ORPHA:210548
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Ele... OMIM:614582
Typical Nemaline Myopathy
Facial diplegia, Facial palsy, Elevated circulating creatine kinase concentration, Nemaline bodie... ORPHA:171436
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pancreatitis, Inguinal hernia, Homocystinuria, Failure to thrive, Methioninuria, Hepatic steatosis OMIM:236200
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria, Growth delay, Hepatic necrosis, Fulminant hepatic failure, ... OMIM:231530
Myopathy With Lactic Acidosis, Hereditary
Exercise intolerance, Myoglobinuria, Elevated circulating creatine kinase concentration, Increase... OMIM:255125
Liddle Syndrome
Hypokalemia ORPHA:526
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
3-Methylglutaconic aciduria, Methylmalonic aciduria, Hepatomegaly, Elevated circulating hepatic t... ORPHA:17
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Limb hypertonia OMIM:615918
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria OMIM:619003
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Hyperoxaluria, Primary, Type Ii
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency OMIM:260000
Gracile Syndrome
Cirrhosis, Cholestasis, Elevated hepatic iron concentration, Intrauterine growth retardation, Hep... ORPHA:53693
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Decreased circulating renin level, Hypokalemia OMIM:613677
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Progressive language deterioration, Motor stereotypy, Attention deficit hyperactiv... OMIM:610042
X-Linked Adrenoleukodystrophy
Hyperactivity, Cognitive impairment, Disinhibition, Dementia, Attention deficit hyperactivity dis... ORPHA:43
Glycogen Storage Disease Xii
Muscle fiber splitting, Delayed puberty, Jaundice, Hepatomegaly, Cholelithiasis, Elevated circula... OMIM:611881
Leigh Syndrome
3-Methylglutaconic aciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular aci... ORPHA:506
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Increased variability in muscle fiber diameter, Proximal amyotrophy, Skeletal... OMIM:614302
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Exercise intolerance, Elevated circulating hepatic transaminase concent... OMIM:124000
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, 3-hydroxyisovaleric aciduria, Elevated urinary 3-meth... OMIM:210200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chorea, Truncal ataxia, At... OMIM:615356
Mitochondrial Complex I Deficiency, Nuclear Type 26
Distal amyotrophy, Choreoathetosis, Limb hypertonia, Lacticaciduria OMIM:618247
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Postnatal growth retardation, Intrahepatic cholestasis, Jaundice, Dupli... OMIM:617093
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Anorexia ORPHA:361
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, Ele... OMIM:212138
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Distal sensory impairment, Rimmed vacuoles, Elevated circulati... OMIM:606070
Fanconi-Bickel Syndrome
Postnatal growth retardation, Hepatomegaly, Intrahepatic cholestasis, Generalized aminoaciduria, ... OMIM:227810
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Chanarin-Dorfman Syndrome
Ataxia, Hepatomegaly, Hepatic steatosis, Myopathy OMIM:275630
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Tendon xanthomatosis, Hepatomegaly, Hypercholesterolemia, Rena... ORPHA:412
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Renal tubular acidosis, Renal insufficiency, Renal cyst, ... OMIM:614922
Birk-Landau-Perez Syndrome
Hyperkalemia, Increased circulating creatine kinase MB isoform OMIM:617595
Acute Adrenal Insufficiency
Hyperkalemia, Anorexia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalc... ORPHA:95409
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Hyperlipidemia, Acute pancreatitis, Episodic abdominal pain, Decr... ORPHA:444490
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Accessory spleen, Micro... OMIM:619418
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Decreased liver function, Elevated circulating he... ORPHA:275761
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hyperoxaluria, Nephrocalcinosis, Hypocitraturia, Nephrolithiasis OMIM:620374
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio... ORPHA:2959
Ethylene Glycol Poisoning
Hypocalcemia, Confusion, Addictive alcohol use, Hyperkalemia ORPHA:31826
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:608594
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Hepatomegaly, Myoglobinuria, Elevated circulating creatine kinase co... OMIM:251900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Exercise intolerance, Ragged-red muscle fibers, Impaired distal proprioception, Facial palsy, EMG... OMIM:157640
Propionic Acidemia
Hepatomegaly, Organic aciduria ORPHA:35
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Renal tubular dysfunction, Short stature, Glycosuria, Hyperphos... OMIM:134600
Wilson Disease
Portal fibrosis, Acute hepatic failure, Splenomegaly, Hepatic steatosis, Chondrocalcinosis, Jaund... OMIM:277900
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase concentration, Renal insuf... ORPHA:445038
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Mildly elevated creatine kinase, Increased variability in muscle fi... ORPHA:397744
Oculopharyngodistal Myopathy 1
Distal amyotrophy, Rimmed vacuoles, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormaliti... OMIM:164310
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria OMIM:617184
3-Methylglutaconic Aciduria, Type Viib
3-Methylglutaconic aciduria, Rhizomelia, Growth delay, Ataxia, Flexion contracture, Intrauterine ... OMIM:616271
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Elevated circulat... OMIM:619355
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hypercho... ORPHA:247598
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Sho... OMIM:618641
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Organic aciduria ORPHA:6
Mercury Poisoning
Anorexia, Confusion, Hypokalemia ORPHA:330021
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Renal Hypoplasia, Bilateral
Hyperkalemia, Hyponatremia ORPHA:97362
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Delayed pu... ORPHA:79259
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Accessory splee... OMIM:300972
Familial Hyperaldosteronism Type I
Polydipsia, Hypokalemia ORPHA:403
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Renal tubular acidosis, Organic aciduria, Failure to thrive, Nonprogressive cerebel... ORPHA:431361
Nephrolithiasis, Calcium Oxalate, 1
Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
East Syndrome
Polydipsia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Salt craving ORPHA:199343
Dilated Cardiomyopathy With Ataxia
3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase concentration, Hypoplasia ... ORPHA:66634
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Hypokalemia OMIM:604278
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Anorexia, Hypokalemia OMIM:611590
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Hyperactivity, Recurrent hand flapping, Short attention span, Motor ste... ORPHA:449291
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:269700
Ullrich Congenital Muscular Dystrophy 2
Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac... OMIM:616470
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Type 2 muscle fiber predominance, Proximal tubulopathy, Organic a... OMIM:619743
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Macrovesicular hepatic ste... OMIM:600649
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Mitochondrial Complex I Deficiency, Nuclear Type 1
Exercise intolerance, Hepatomegaly, Hypospadias, Ragged-red muscle fibers, Lacticaciduria, Growth... OMIM:252010
Multiple Mitochondrial Dysfunctions Syndrome 1
Hyperglycinuria, Alpha-aminoadipic aciduria, Failure to thrive, Increased urine alpha-ketoglutara... OMIM:605711
Mitochondrial Dna-Associated Leigh Syndrome
Abnormal renal tubule morphology, Hepatomegaly, Multiple glomerular cysts, Abnormality of Krebs c... ORPHA:255210
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Fatigue, Abnormal muscle... OMIM:123320
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Short stature, Ataxia, Skeletal muscle atrophy, Abnormal u... ORPHA:31
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria OMIM:619063