banner
Genes Phenotypes Help, News, Blog

Gene: Ppp3ca MGI:107164

Log in to follow

Gene Summary

Name:
protein phosphatase 3, catalytic subunit, alpha isoform
Synonyms:
CnA,  Calna,  Caln,  PP2BA alpha,  2900074D19Rik,  PP2B alpha 1,  CN

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased blood urea nitrogen level Ppp3catm2e(EUCOMM)Wtsi HOM   Early adult 1.67×10-06
abnormal coat/hair pigmentation Ppp3catm2e(EUCOMM)Wtsi HOM   Early adult 2.34×10-06
decreased circulating amylase level Ppp3catm2e(EUCOMM)Wtsi HOM   Early adult 6.22×10-05
abnormal tail movements Ppp3catm2e(EUCOMM)Wtsi HOM   Early adult 5.60×10-06
increased total body fat amount Ppp3catm2e(EUCOMM)Wtsi HOM Early adult 7.88×10-05
increased body weight Ppp3catm2e(EUCOMM)Wtsi HOM Early adult 2.12×10-06
decreased mean corpuscular volume Ppp3catm2e(EUCOMM)Wtsi HOM   Early adult 3.84×10-05
decreased circulating magnesium level Ppp3catm2e(EUCOMM)Wtsi HOM Early adult 3.40×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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 N/A heterozygote 0.0% (0 of 1)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 1)
Bone N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote 0.0% (0 of 1)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 1)
Large intestine N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A heterozygote 0.0% (0 of 1)
Mammary gland N/A heterozygote 0.0% (0 of 1)
Esophagus N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 1)
Oviduct N/A heterozygote 0.0% (0 of 1)
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote 0.0% (0 of 1)
Peyer's patch N/A heterozygote 0.0% (0 of 1)
Pituitary gland N/A heterozygote 0.0% (0 of 1)
Prostate gland N/A heterozygote Not available
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach N/A heterozygote 0.0% (0 of 1)
Striatum N/A heterozygote Not available
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 0.0% (0 of 1)
Trachea N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote 0.0% (0 of 1)
White adipose tissue N/A heterozygote 0.0% (0 of 1)
No Embryo expression data was found for this gene.

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)
blood vessel 0.0%
bone 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)
eye 0.0%
gall bladder 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%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 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)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Ppp3catm2e(EUCOMM)Wtsi
body, HOM, Male, WTSI
Ppp3catm2e(EUCOMM)Wtsi
body, HOM, Male, WTSI
Ppp3catm2e(EUCOMM)Wtsi
head, HOM, Male, WTSI
Ppp3catm2e(EUCOMM)Wtsi
head, HOM, Male, WTSI
Ppp3catm2e(EUCOMM)Wtsi
body, HOM, Female, WTSI

View all 65 images

Ppp3catm2e(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HOM, Female, WTSI
Ppp3catm2e(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HOM, Female, WTSI
Ppp3catm2e(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HOM, Female, WTSI
Ppp3catm2e(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HOM, Female, WTSI
Ppp3catm2e(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Ppp3catm2e(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Ppp3catm2e(EUCOMM)Wtsi
eye, abnormal retinal pigmentation, HOM, Male, WTSI

Human diseases caused by Ppp3ca mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ppp3ca by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Decreased body weight, Arthrogryposis multiplex congenita, Hydronephrosis OMIM:618265
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Limb hypertonia ORPHA:442835
Developmental And Epileptic Encephalopathy 91
OMIM:617711

The table below shows human diseases predicted to be associated to Ppp3ca by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Uridine-Cytidineuria
Elevated urinary cytidine, Elevated urinary uridine level OMIM:618477
Myopathy, Distal, With Rimmed Vacuoles
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... OMIM:617158
Polyglucosan Body Myopathy 2
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Elevated ci... OMIM:616199
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... OMIM:618655
Inclusion Body Myositis
Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentration, Ragged-red ... ORPHA:611
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Elevated circulati... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... OMIM:618848
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia, Class III obesity OMIM:616418
Myopathy, Distal, 5
Muscle fiber splitting, Mildly elevated creatine kinase, Weakness of facial musculature, Myopathy... OMIM:617030
2P21 Microdeletion Syndrome
Cystinuria, Failure to thrive, Hypoglycemia, Hypocalcemia, Nephrolithiasis ORPHA:163693
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... OMIM:601954
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen, Failure to thrive, Diabetes mel... OMIM:613845
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c... OMIM:161900
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles, Mildly elevated creatine kinase OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle muscle weakness, F... OMIM:609115
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Type II diabetes mellitus, EMG: myopathic abnormalities, El... OMIM:500002
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Cystinuria, Neonatal hypoglycemia, Failure to thrive, Nephrolithiasis, Hypo... OMIM:606407
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... OMIM:620085
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... ORPHA:206549
Oculopharyngodistal Myopathy 2
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... OMIM:618940
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Renal insufficiency, Lower limb muscle weakness, Abnormality of jaw muscles, H... ORPHA:99845
Glycogen Storage Disease Ixd
Lower limb muscle weakness, Exercise-induced myoglobinuria, Glycogen accumulation in muscle fiber... OMIM:300559
Refractory Celiac Disease
Weight loss, Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportio... ORPHA:398063
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:619733
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Foot dorsiflexor weakness, Ankle flexion contracture, Elevated circulating creatine... OMIM:615883
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, Myofibrillar, 5
Muscle fiber splitting, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Eleva... OMIM:609524
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... ORPHA:266
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Anemia, Hypokalemia, Cachexia, Nail dysplasia, Hyperpigmentation of the skin, Hypocalce... OMIM:175500
Distal Myopathy With Anterior Tibial Onset
Abnormal circulating creatine kinase concentration, Tibialis muscle weakness, Limb-girdle muscle ... ORPHA:178400
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Failure to thrive, Hypoglycemia, Elevated circulating creatinine c... OMIM:617872
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... OMIM:613204
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Facial palsy, Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Elevated circula... OMIM:616209
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... ORPHA:603
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Obesity, Hypocalcemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Ele... OMIM:179800
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Elevated circulating creatine kinase concentration, Muscle fiber cyt... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:254110
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Mildly elevated creatine kinase, Weakness of facial mu... ORPHA:457050
Myopathy, Distal, Tateyama Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:614321
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Medullary nephrocalcinosis, Failure to thrive, Polyuri... OMIM:616963
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform OMIM:302045
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Ca... ORPHA:94090
Tibial Muscular Dystrophy
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... ORPHA:609
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Preeclampsia
Increased body mass index, Small for gestational age, Acute kidney injury, Abnormality of the kid... ORPHA:275555
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... OMIM:253601
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... ORPHA:488650
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration OMIM:609500
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn... OMIM:181400
Alpha-B Crystallin-Related Late-Onset Myopathy
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... ORPHA:399058
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... OMIM:618129
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
Spinal Muscular Atrophy, Type Iv
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... OMIM:271150
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy... ORPHA:1878
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentration, Myopathy, R... ORPHA:270
Iminoglycinuria
Prolinuria, Hyperglycinemia, Hydroxyprolinuria, Hyperprolinemia, Hydroxyprolinemia, Hyperglycinuria ORPHA:42062
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:617783
Myopathy, X-Linked, With Postural Muscle Atrophy
Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... OMIM:300696
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Proximal tubulopathy,... ORPHA:411634
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Chro... ORPHA:94088
Iminoglycinuria
Prolinuria, Hyperglycinuria, Hydroxyprolinuria OMIM:242600
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin... OMIM:616471
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... OMIM:608423
Congenital Myopathy 14
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:618414
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Elevated circulating cre... OMIM:611615
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Abnormal circulating creatine kinase concentration, Distal lower limb amyotrophy, Lower limb musc... OMIM:620068
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Phenylketonuria
Aminoaciduria ORPHA:716
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... OMIM:160565
Blue Diaper Syndrome
Hyperphosphatemia, Blue urine, Recurrent hypoglycemia, Hypercalcemia, Nephrocalcinosis, Increased... ORPHA:94086
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... OMIM:616228
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... OMIM:612925
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... OMIM:618178
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:301028
Saccharopinuria
Hyperlysinuria, Histidinuria, Elevated circulating sacchoropine concentration, Saccharopinuria, C... OMIM:268700
Hyperprolinemia, Type Ii
Prolinuria, Hyperglycinuria, Hyperprolinemia, Hydroxyprolinuria OMIM:239510
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616032
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
Nemaline Myopathy 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt... OMIM:256030
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Failure to thrive, Increased urinary taurine OMIM:237400
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, Muscular dystrophy, ... OMIM:254130
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia, Failu... ORPHA:6
Hypomagnesemia 2, Renal
Hypokalemia, Chondrocalcinosis, Hypomagnesemia OMIM:154020
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... ORPHA:567544
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612926
Vacuolar Neuromyopathy
Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ... OMIM:601846
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
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
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:612999
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... OMIM:612924
Mitochondrial Myopathy, Infantile, Transient
Decreased plasma carnitine, Macroglossia, Elevated circulating creatine kinase concentration, Fai... OMIM:500009
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Lymphopenia, Hypoprotein... ORPHA:90362
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Myopathy, Distal, 7, Adult-Onset, X-Linked
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Elb... OMIM:619566
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... OMIM:616924
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Increased intramuscular fat, Elevated circulating creatine kinase c... ORPHA:276435
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... OMIM:261000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... OMIM:612937
Adenine Phosphoribosyltransferase Deficiency
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... OMIM:614723
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... OMIM:615605
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia, Myopathy ORPHA:2238
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Hyperprolinemia, Proteinuria ORPHA:419
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Type... OMIM:619042
Tubular Aggregate Myopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... ORPHA:2593
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... OMIM:617760
Myofibrillar Myopathy 11
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... OMIM:619178
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Abnormal renal corticomedullary differentiation, Renal dysplasia, Small for ... OMIM:616733
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Oculopharyngodistal Myopathy 3
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... OMIM:619473
Myopathy, Distal, 1
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... OMIM:160500
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Diabetes mellitus, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Orthostatic Hypotension 1
Nocturia, Neonatal hypoglycemia, Increased blood urea nitrogen, Weakness of facial musculature, H... OMIM:223360
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Elevated circulating creatine kinase concentration, Weakness of facial musculature, Skeletal musc... OMIM:617069
Hypercalcemia, Infantile, 1
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Hypercalcemia, Nephrocalcin... OMIM:143880
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... OMIM:308990
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Limb-girdle muscle weakness, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Mac... ORPHA:352479
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Myofibrillar myopathy, Increased variability in muscle fiber diameter, Ca... OMIM:603689
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy, Elevat... ORPHA:309169
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... OMIM:117000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... OMIM:253700
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Increased variability in muscle fiber diameter, Failure to thrive, Increased ... OMIM:613752
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... ORPHA:34516
Zebra Body Myopathy
Muscle fiber splitting, Autophagic vacuoles, Torticollis, Elevated circulating creatine kinase co... ORPHA:97240
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Renal tubular dysfu... OMIM:606528
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... ORPHA:171442
C3 Glomerulopathy
Mesangial hypercellularity, Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute... ORPHA:329918
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... OMIM:619468
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... OMIM:619477
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Myopathy, Centronuclear, 1
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Mildly elevated cr... OMIM:160150
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... OMIM:616689
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Colchicine Poisoning
Alopecia, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatr... ORPHA:31824
Hypouricemia, Renal, 1
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Camptodactyly-Taurinuria Syndrome
Camptodactyly of finger, Aminoaciduria, Camptodactyly of toe, Increased urinary taurine ORPHA:1325
Oculoskeletodental Syndrome
Small for gestational age, Elbow flexion contracture, Renal agenesis, Macroglossia, Mucopolysacch... OMIM:618440
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... ORPHA:119
Myopathy, Centronuclear, 4
Abnormal circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, T... OMIM:614807
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Failure to thrive, Hypercalcemia, Nephrocalcinosis, Hypercalciuria OMIM:239199
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Muscular dystrophy, Elevated... OMIM:613530
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Oculopharyngodistal Myopathy 4
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... OMIM:619790
Dibasic Amino Aciduria I
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria OMIM:222690
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... OMIM:614399
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia ORPHA:147
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... OMIM:618138
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, EMG: myopathic abno... OMIM:608358
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Alopecia, Decreased prealbumin level, Neutropenia in presence of an... ORPHA:37042
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... ORPHA:3202
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Elev... OMIM:613157
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... OMIM:603511
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Hypophosphatemia, Elevated circulating creatine kinase concentration, Mildly elevated cre... OMIM:619743
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... ORPHA:399086
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Urinary in... OMIM:617114
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Increased serum pyruvate ORPHA:238329
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... OMIM:616313
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Myopathy, Scapulohumeroperoneal
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... OMIM:616852
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Carnosinuria, Elevated circulating creatine kinase concentration OMIM:309930
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Muscle fiber atro... ORPHA:228302
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Myopathy, Distal, 3
Joint contracture of the hand, Muscular dystrophy, EMG: myopathic abnormalities, Mildly elevated ... OMIM:610099
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... OMIM:607624
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... OMIM:617072
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:618484
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers, Increased serum pyruvate OMIM:545000
Gracile Syndrome
Aminoaciduria, Increased serum pyruvate, Increased circulating ferritin concentration, Increased ... OMIM:603358
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Generalized amyotrophy, EMG: myopathic abnormalities, Facial diplegia, Elevated ci... OMIM:609560
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Reactive hypogl... ORPHA:35878
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Myopathy, Frontalis m... OMIM:300580
Congenital Myopathy 5 With Cardiomyopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:611705
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Skeletal myopathy, Muscle fiber atrophy, Acute kidney injury, Exercise-ind... ORPHA:57
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Multiminicore Myopathy
Congenital muscular dystrophy, Abnormal muscle fiber morphology, Failure to thrive, Myopathy, Min... ORPHA:598
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevat... ORPHA:231111
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Rhabdomyolysis, EMG: myopathic abnormalities, Elevated circulating c... ORPHA:424107
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hy... OMIM:612462
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... ORPHA:26793
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Flexion contracture, Increased muscle lipid conte... ORPHA:171439
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Renal cyst, Nephropathy, Elevated circulating creatinine concentration, Focal segm... OMIM:617056
East Syndrome
Hypokalemia, Hypomagnesemia, Increased circulating renin level ORPHA:199343
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... ORPHA:353
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... OMIM:608810
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia, Partial albinism ORPHA:90023
Galactosemia Iii
Failure to thrive, Aminoaciduria, Hypergalactosemia, Galactosuria OMIM:230350
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria,... OMIM:123550
Glycogen Storage Disease V
Hyperuricemia, Rhabdomyolysis, Exercise-induced rhabdomyolysis, Elevated circulating creatine kin... OMIM:232600
Uremic Pruritus
Stage 5 chronic kidney disease, Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Re... ORPHA:94059
Combined Oxidative Phosphorylation Deficiency 36
Hyperalaninemia, Lower limb muscle weakness, Failure to thrive, Hypoglycemia, Aciduria OMIM:617950
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Distal Myotilinopathy
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Elevat... ORPHA:98911
Small Cell Carcinoma Of The Bladder
Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections ORPHA:284400
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers, Increased serum pyruvate OMIM:300816
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Hypocalcemia, Cachexia ORPHA:1438
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... OMIM:220100
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Nephropathy, Macroscopic ... ORPHA:79233
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in in... OMIM:232700
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Elevated creatine kin... ORPHA:263494
Congenital Muscular Dystrophy, Ullrich Type
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... ORPHA:75840
Hypocalciuric Hypercalcemia, Familial, Type Ii
Multiple lipomas, Chondrocalcinosis, Hypercalcemia, Hypermagnesemia OMIM:145981
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Hyperammonemia ORPHA:664
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Elevated circulating creatine ... OMIM:617070
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea nitrogen, Hyperca... ORPHA:251004
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... ORPHA:94093
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance, Elevated circulating creatine ... ORPHA:972
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Generalized amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle amyotrophy, Elevated circu... OMIM:167320
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:437572
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Glomerulonephritis, Reversible renal failure, Acut... OMIM:607665
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
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Hyperphosphaturia ORPHA:89937
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71529
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Small for g... ORPHA:2260
Autosomal Dominant Hypocalcemia
Alopecia, Hyperphosphatemia, Irregular hyperpigmentation, Abnormality of the nail, Abnormal finge... ORPHA:428
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Calcium nephrolithiasis, Hypocalcemic seizures, Hypocalcemia ORPHA:36913
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Hypomagnesemia, Abnormal cir... ORPHA:1578
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Proximal lower limb amyotrophy, Muscle fiber necrosis, Elevated circulating ... OMIM:310440
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy, Aminoaciduria OMIM:204730
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia ORPHA:2668
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Insulin resistance, Nocturia, Elevated urinary dopamine, Increased blood urea n... ORPHA:230
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... OMIM:605637
Timothy Syndrome
Hypocalcemia, Hypoglycemia OMIM:601005
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Familial Pseudohyperkalemia
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... ORPHA:90044
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Left ven... ORPHA:746
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Hypopigmentation of the skin, Increased adipose tissue, Failure ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Hypopigmentation of the skin, Increased adipose tissue, Failure ... ORPHA:71526
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency ORPHA:54057
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Elevated circulating c... OMIM:609452
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... ORPHA:59135
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Hypophosphatemia, Hyperphosphaturia, Large for gestational age, Diabet... OMIM:616026
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Rhabdomyolysis, Elevated circulating creatine kinase concentration, ... OMIM:618120
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Generalized aminoaciduria, Failure to thrive, Hypocalcemic seizures, Hypocalcemia OMIM:264700
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Hyperlysinuria, Hyperammonemia, Dibasicaminoaciduria OMIM:238750
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced rhabdomyolysis, Exercise-induced myoglobinuria, Elevated cr... ORPHA:284426
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Aminoaciduria ORPHA:2278
Propionic Acidemia
Organic aciduria, Hypoglycemia, Hyperammonemia ORPHA:35
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Abnormal renal physiology, Increased blood urea nitrogen, Elevated cir... OMIM:274150
Central Core Disease
Abnormal circulating creatine kinase concentration, Multiple joint contractures, Central core reg... ORPHA:597
Glucose-Galactose Malabsorption
Weight loss, Hematuria, Failure to thrive, Hypercalcemia, Renal insufficiency, Hypernatremia, Nep... ORPHA:35710
Congenital Myopathy 3 With Rigid Spine
Increased variability in muscle fiber diameter, Flexion contracture, Decreased body weight, Centr... OMIM:602771
Saccharopinuria
Hyperlysinemia, Hyperlysinuria, Citrullinuria, Abnormality of circulating enzyme level, Cystinuri... ORPHA:3124
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Chronic tubulointerstitial nephrit... OMIM:602088
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Hypercalcemia ORPHA:33111
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Failure to thrive, Decreased serum creatinine, Hypocystinemia OMIM:617744
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Calcinosis, Hypophosphatemia, Hyperphosphaturia, Failure to thrive, Polyuria, Hype... OMIM:239200
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Obesity, Hypocalcemia ORPHA:79445
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... OMIM:619065
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Failure to thrive, Chondrocalcinosis, Hypomagnesemia OMIM:263800
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Increased variability in muscle fiber diameter, Multiple joint contractures, Centrally nucleated ... ORPHA:486815
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Weight loss, Transient hypophosphatemia, Hyperkalemia, Mildly elevated crea... ORPHA:79102
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Insulin resistance, Hypoplasia of penis, Failure to thrive, Hypoglycem... ORPHA:181393
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Congenital muscular dystrophy, Flexion contracture, Eleva... OMIM:607855
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Weight loss, Nephrotic syndrome, Renal inter... ORPHA:85450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... OMIM:616812
Neonatal Hemochromatosis
Abnormal localization of kidney, Hypoglycemia, Increased circulating ferritin concentration, Incr... ORPHA:446
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Elevated circulating creatine k... OMIM:615422
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... ORPHA:401768
Bardet-Biedl Syndrome 13
Obesity, Bone spicule pigmentation of the retina OMIM:615990
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets... ORPHA:681
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Alaninuria OMIM:615158
Cholera
Abnormality of renal excretion, Acute kidney injury, Hypokalemia, Decreased urine output, Abnorma... ORPHA:173
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Facial palsy, Ragged-red muscle fibers, EMG: myopathic abnormalities OMIM:609283
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:235400
Ullrich Congenital Muscular Dystrophy 1
Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Cong... OMIM:254090
Gitelman Syndrome
Decreased urinary potassium, Glucose intolerance, Renal tubular acidosis, Type II diabetes mellit... ORPHA:358
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Ragged-red muscle fibers, Recurrent myoglobinuria OMIM:550500
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Elevated circ... OMIM:123320
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Elevated circulating creatine kinase concentration, Weakness of facial musculatur... OMIM:618416
Pearson Syndrome
Pigmentary retinopathy, Anemia, Hyperalaninemia, Cafe-au-lait spot, Small for gestational age, Hy... ORPHA:699
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Renal insufficiency, Hyperc... ORPHA:99879
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Ca... ORPHA:94089
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypocalcemia, Hypercalcemia ORPHA:557003
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression, Decreased circulating ferritin concentration ORPHA:330054
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Pigmentary retinopathy, Hypopigmentation of the skin, Weight loss, D... OMIM:219800
Rhabdoid Tumor
Renal neoplasm, Hematuria, Hypercalcemia, Weight loss ORPHA:69077
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Myopathic Ehlers-Danlos Syndrome
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... ORPHA:536516
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... ORPHA:98905
Dent Disease 2
Aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatine kinase conce... OMIM:300555
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Weight loss, Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epit... ORPHA:49041
Hyperparathyroidism 4
Nephrolithiasis, Hypercalcemia OMIM:617343
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Decreased plasma free carnitine, Left ventricular hypertrophy, Increased urine s... OMIM:619048
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... OMIM:174000
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hyperalaninemia, Hyperglycinemia, Elevated circulating creatine kinase concentrati... OMIM:619386
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Increased circulating r... OMIM:601678
Intellectual Developmental Disorder, X-Linked 97
Synophrys, Obesity OMIM:300803
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Hypocalcemia, Renal insufficiency ORPHA:1563
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperleucinemia, Ketonuria, Decreased plasma carnitine, Acute hyperammonemia, Organic aciduria, F... OMIM:210210
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis OMIM:600740
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Calcinosis, Hypokalemia, Renal artery stenosis, Hyponatremia, Renal hypoplasia, Ne... OMIM:617913
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased plasma carnitine, Macroglossia, Mildly elevated creatine kinase, Myopathy, Increased mu... ORPHA:254864
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Generalized aminoaciduria, Failure to thrive, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Failure to thrive, Hypospadias, Hypocalcemia, Micropenis OMIM:607143
Non-Functioning Paraganglioma
Weight loss, Elevated urinary epinephrine, Hematuria, Elevated urinary dopamine, Hypercalcemia, E... ORPHA:94080
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Hypomagnesemia, Increased circulating renin level OMIM:612780
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Cachexia, Elevated circulating creatine kinase concentration, Skeletal muscle atro... ORPHA:1933
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... OMIM:615160
Albers-Schönberg Osteopetrosis
Hypocalcemia, Facial palsy ORPHA:53
Primary Hyperoxaluria Type 3
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... ORPHA:93600
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
3-Hydroxyisobutyric Aciduria
Failure to thrive, Aminoaciduria OMIM:236795
Congenital Myasthenic Syndromes With Glycosylation Defect
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Elevated circulating ... ORPHA:353327
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Knee flexion contracture, Hydronephrosis, Decreased plasma free carnit... OMIM:608836
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypokalemia, Polycystic kidne... OMIM:613095
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus ORPHA:3199
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Prox... OMIM:614302
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Glycerol Kinase Deficiency
Small for gestational age, Muscular dystrophy, Increased urinary glycerol, Hypoglycemia, Myopathy... OMIM:307030
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Hypophosphatemia, Hypocalcemia OMIM:600081
Bartter Syndrome Type 4
Small for gestational age, Hypokalemia, Increased circulating renin level, Failure to thrive, Hyp... ORPHA:89938
Adamantinoma
Hypercalcemia ORPHA:55881
Tiglic Acidemia
Aminoaciduria OMIM:275190
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated skeletal muscle fiber... OMIM:618823
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypocalcemic tetany, Hyperprostaglandinuria, Nephrocalcinosis,... ORPHA:73224
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelash... OMIM:300946
Visceral Steatosis, Congenital
Renal steatosis, Hypocalcemia, Myocardial steatosis, Hypoglycemia OMIM:228100
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Increased serum pyruvate OMIM:616794
X-Linked Agammaglobulinemia
Failure to thrive, Hypocalcemia, Weight loss ORPHA:47
Hypomagnesemia 3, Renal
Failure to thrive, Hyperuricemia, Hypomagnesemia OMIM:248250
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Hypokalemia, Hypophosphatemia, Hyperphosphaturia, Renal tubular dysfun... OMIM:134600
Oncogenic Osteomalacia
Renal phosphate wasting, Hypophosphatemia, Hypocalcemia, Hyperphosphaturia ORPHA:352540
Cystinosis
Aminoaciduria, Hypophosphatemia, Hypokalemia, Type I diabetes mellitus, Failure to thrive, Nephro... ORPHA:213
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Abnormality of skeletal muscle fiber size, Insulin resistance, Maternal diabetes, ... ORPHA:79083
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia, Facial paralysis, Facial palsy OMIM:259700
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... ORPHA:730
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hyperuricosuria, Weight loss, Glycosuria, Stage 5 chronic kidney disease... ORPHA:3337
Sanjad-Sakati Syndrome
Hypocalcemia, Myopathy, Hypoplasia of penis, Hyperphosphatemia ORPHA:2323
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Elbow flexion contracture, Ab... ORPHA:1145
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Facial... OMIM:612073
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia ORPHA:2123
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... ORPHA:36234
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypospadias, Hypercalcemia, Hypercalciuria OMIM:614732
Central Precocious Puberty
Abnormality of secondary sexual hair, Cafe-au-lait spot, Overgrowth, Obesity, Increased body weight ORPHA:759
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Ketonuria, Glycosuria, Failure to thrive, Postprandial hyperglycemia, Hyper... ORPHA:2089
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, Ureth... OMIM:226670
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test OMIM:229100
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia, Micropenis OMIM:602361
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hypoglycemia, Hyperuricemia OMIM:261750
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Elevated urinary 3-hydroxybutyric acid, Cachexia, Dicarboxylic aciduria, E... ORPHA:42
Congenital Myopathy 1B, Autosomal Recessive
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:255320
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Micropenis, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Galactosemia I
Aminoaciduria, Increased level of galactonate in red blood cells, Hypergalactosemia, Increased le... OMIM:230400
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h... OMIM:614376
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Ca... ORPHA:79444
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss ORPHA:79238
Combined Malonic And Methylmalonic Acidemia
Methylmalonic acidemia, Dicarboxylic acidemia, Dicarboxylic aciduria, Failure to thrive, Hypoglyc... ORPHA:289504
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta, Hypomagnesemia OMIM:248190
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Myopathy ORPHA:33574
Autosomal Dominant Centronuclear Myopathy
Urinary incontinence, Centrally nucleated skeletal muscle fibers, Abnormality of the foot muscula... ORPHA:169189
Renal Cysts And Diabetes Syndrome
Hyperuricemia, Impaired glucose tolerance, Glycosuria, Stage 5 chronic kidney disease, Abnormalit... OMIM:137920
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration OMIM:619024
46,Xy Sex Reversal 4
Renal dysplasia, Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circ... OMIM:154230
Griscelli Syndrome Type 2
Premature graying of hair, Iris hypopigmentation, Pancytopenia, Hypopigmentation of hair, Hemopha... ORPHA:79477
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Increased variability in muscle fiber diameter OMIM:614096
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... OMIM:620161
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Dia... ORPHA:439232
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Nephrolithiasis ORPHA:93160
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... OMIM:266900
Adult-Onset Distal Myopathy Due To Vcp Mutation
Urinary incontinence, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand muscle... ORPHA:329478
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Renal tubular acidosis, Glycosuria, Arthrogryposis multiplex congenita, Failure to... OMIM:613404
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Decreased plasma carnitine, Elevated plasma br... ORPHA:2394
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Bartter Syndrome, Type 2, Antenatal
</