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
abnormal tail movements Ppp3catm2e(EUCOMM)Wtsi HOM   Early adult 5.60×10-06
increased blood urea nitrogen level Ppp3catm2e(EUCOMM)Wtsi HOM   Early adult 2.08×10-05
increased circulating aspartate transaminase level Ppp3catm2e(EUCOMM)Wtsi HOM Early adult 5.51×10-05
decreased circulating magnesium level Ppp3catm2e(EUCOMM)Wtsi HOM Early adult 6.34×10-06
decreased mean corpuscular volume Ppp3catm2e(EUCOMM)Wtsi HOM   Early adult 3.84×10-05
abnormal coat/hair pigmentation Ppp3catm2e(EUCOMM)Wtsi HOM   Early adult 2.34×10-06
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

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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
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
Decreased body weight, Arthrogryposis multiplex congenita, Hydronephrosis, Vesicoureteral reflux OMIM:618265
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Leukoencephalopathy, Abnormal cerebral white matter morphology, Bilateral gener... ORPHA:178469
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Limb hypertonia ORPHA:442835
Developmental And Epileptic Encephalopathy 91
Cerebral atrophy 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 uridine in urine OMIM:618477
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Elevated ... OMIM:617158
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria OMIM:613646
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Elevated circ... OMIM:618655
Glycogen Storage Disease Xiii
Elevated circulating creatine kinase concentration, Increased muscle glycogen content OMIM:612932
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Elevated cir... ORPHA:611
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Nonaka Myopathy
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Rimmed vacuoles... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Highly elevated creatine kinase, Muscle fiber necrosis, ... OMIM:618848
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Myopathy, Distal, 5
Myopathy, Facial palsy, Mildly elevated creatine kinase, Rimmed vacuoles, Distal amyotrophy, Musc... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Elevated circulating cre... OMIM:601954
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Type II diabetes mellitus, Elevated circulating cr... OMIM:500002
2P21 Microdeletion Syndrome
Hypoglycemia, Failure to thrive, Nephrolithiasis, Cystinuria, Hypocalcemia ORPHA:163693
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Elevated circulating cre... OMIM:609115
Welander Distal Myopathy
Mildly elevated creatine kinase, Rimmed vacuoles, Distal amyotrophy OMIM:604454
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... ORPHA:178464
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, Elevated circulating creatine kinase concentration, EMG: myopathi... OMIM:618940
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Distal Myopathy, Welander Type
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Mildly ele... ORPHA:603
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Viral infection-induced rhabdomyolysis, Type 2 mus... ORPHA:99845
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Eleva... OMIM:609524
Refractory Celiac Disease
Hypoproteinemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Hypop... ORPHA:398063
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Foot dorsiflexor weakness, Flexion contractur... OMIM:615883
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Autophagic vacuoles, Elevated circulating creatine kinase concentr... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, Shoulder girdl... OMIM:254110
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
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Hyperpigmentation of the skin, Nail dystrophy, Anemia, Alopecia, Hypomagne... OMIM:175500
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Congenital... OMIM:613204
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Myopathy, Mildly elevated creatine kinase, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnor... OMIM:615424
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Failure to thrive, Anemia, Hyperuricemia, Hypomagnesemia, Thrombocytopenia OMIM:613845
Pseudohypoparathyroidism, Type Ib
Obesity, Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypotonia-Cystinuria Syndrome
Failure to thrive, Facial palsy, Cystinuria, Nephrolithiasis, Neonatal hypoglycemia, Hypocalcemia OMIM:606407
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Muscular dystro... OMIM:253601
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... ORPHA:457050
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Mildly elevated creatine kinase, Congeni... OMIM:609456
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Weakness of the intrinsic hand muscles, Calf ... ORPHA:488650
Alpha-B Crystallin-Related Late-Onset Myopathy
Abnormal circulating creatine kinase concentration, Autophagic vacuoles, Facial diplegia, EMG: my... ORPHA:399058
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Hypophosphatemia, Renal phosphate wasting, Me... OMIM:616963
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase concentration OMIM:609500
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Elevated circulating creatine kinase concentration, Proximal muscle weakness in lower limbs, Myop... ORPHA:1878
Preeclampsia
Small for gestational age, Elevated circulating creatinine concentration, Increased body mass ind... ORPHA:275555
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased serum pyruvate, Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Elevated circulating creati... ORPHA:270
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating creatinine con... ORPHA:567544
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Mitochondrial Myopathy, Infantile, Transient
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... OMIM:500009
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Renal Fanconi syndrome, Hypokalemia, Failure to ... ORPHA:411634
Nemaline Myopathy 2
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... OMIM:256030
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Bethlem Myopathy 2
Myopathy, Elevated circulating creatine kinase concentration, Increased variability in muscle fib... OMIM:616471
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Elevated circulating creatine kinase concentration, Muscular dystrophy... OMIM:617072
Miyoshi Muscular Dystrophy 1
Elevated circulating creatine kinase concentration, Muscular dystrophy, Deposits immunoreactive t... OMIM:254130
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:242600
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Blue Diaper Syndrome
Hypercalcemia, Nephrocalcinosis, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hype... ORPHA:94086
Myopathy, Distal, 1
Toe extensor amyotrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra... OMIM:160500
Phenylketonuria
Aminoaciduria ORPHA:716
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Obesity ORPHA:34527
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Highly elevated creatine kinase, Myopathy, Increased ... OMIM:618992
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Elevated circulating creatine kinase concentration, Rimmed vacuoles, Limb-girdle muscul... OMIM:612937
Saccharopinuria
Saccharopinuria, Citrullinuria, Hyperlysinuria, Histidinuria, Elevated circulating sacchoropine c... OMIM:268700
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Elevated circulating creatine kinase c... OMIM:616924
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Elevated circulating creatine ... ORPHA:276435
Hyperprolinemia, Type Ii
Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinuria OMIM:239510
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia, Aciduria OMIM:617950
Hyper-Beta-Alaninemia
Failure to thrive, Hyperbeta-alaninemia, Increased urinary taurine OMIM:237400
Hypomagnesemia 2, Renal
Hypomagnesemia, Chondrocalcinosis, Hypokalemia OMIM:154020
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612926
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... ORPHA:6
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Flexion contracture, Rimmed vacuoles, Elevated circulating creatine kinase conc... OMIM:300696
Vacuolar Neuromyopathy
Elevated circulating creatine kinase concentration, Shoulder girdle muscle weakness, Rimmed vacuo... OMIM:601846
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Renal dysplasia, Elevated circulating creatinine concentration, Left v... OMIM:616733
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, Facial palsy, ... OMIM:603511
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, Achilles tendo... OMIM:603689
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Myopathy, Elevated circulating creatine kinase concentration, Scapular wingi... OMIM:618129
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Mildly elevated creatine ... ORPHA:171442
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, Elevated circulating creatine kinase... OMIM:608358
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Familial Isolated Hypoparathyroidism
Myopathy, Nephropathy, Hypocalcemia ORPHA:2238
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... OMIM:619042
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Weight loss, Anemia, Hypomagnesemia, Reduced proportion of CD4+... ORPHA:90362
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... ORPHA:34516
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Hyperprolinemia Type 1
Hyperprolinemia, Proteinuria, Prolinuria, Nephropathy ORPHA:419
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Highly elevated creatine kinase, Skeletal muscle atrophy... ORPHA:352479
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hypoglycemia, Renal tubular dysfunction, Failure to thrive, Hyperinsul... OMIM:606528
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Myoglobinuria, Elevated circulating creatine kinase conc... ORPHA:119
Myopathy, Myofibrillar, 2
Autophagic vacuoles, Elevated circulating creatine kinase concentration, EMG: myopathic abnormali... OMIM:608810
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, Joint contracture of the ha... ORPHA:399086
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Hyperuricemia, Acu... ORPHA:79233
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Elevated circulating creatine ki... OMIM:609560
Riboflavin Deficiency
Hypoglycemia, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration OMIM:615026
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial pals... ORPHA:97240
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu... OMIM:619477
C3 Glomerulopathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Hematuria, Stage 5 chronic kid... ORPHA:329918
Myofibrillar Myopathy 11
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... OMIM:619178
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Anemia, Hypocalcemia OMIM:244460
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyuria, Periglom... OMIM:619468
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Elevated ci... OMIM:618138
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy OMIM:242530
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... OMIM:616689
Colchicine Poisoning
Hyponatremia, Leukocytosis, Hypokalemia, Alopecia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia... ORPHA:31824
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Camptodactyly of toe, Camptodactyly of finger, Increased urinary taurine ORPHA:1325
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria OMIM:239199
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:300718
Oculoskeletodental Syndrome
Hypercalcemia, Mucopolysacchariduria, Renal agenesis, Small for gestational age, Macroglossia, Hy... OMIM:618440
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Mildly elevated cre... OMIM:610099
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Muscular Dystrophy, Limb-Girdle, Type 1H
Elevated circulating creatine kinase concentration, Shoulder girdle muscle atrophy, Muscular dyst... OMIM:613530
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... OMIM:300580
Dibasic Amino Aciduria I
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria OMIM:222690
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Decreased muscle mass, Myoglobinuria, Viral infection-induced rhabdomyolysis, Skele... ORPHA:57
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Increased muscle lipid content, Tubulointerstitial nephritis, Myoglobinuria, Elevated circulating... ORPHA:228302
Azotemia, Familial
Azotemia OMIM:109160
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Muscular dystrophy, Carnosinuria OMIM:309930
Severe X-Linked Mitochondrial Encephalomyopathy
Increased serum pyruvate, Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Elevated circulating creatine kinase concentration, Generalized amyot... ORPHA:86812
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hypoargininemia, Episodic ammonia intoxication, Hyperammonemia ORPHA:147
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Abnormal number of dense granules, Hypopigmentation of the skin OMIM:614072
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration, Nephrocalcinosis OMIM:211000
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis OMIM:222730
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Decreased prealbumin level, Cachexia, Neutropenia, Neutropenia in p... ORPHA:37042
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Elevated circulating cr... ORPHA:353
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Myopathy, Ragged-red muscle fibers OMIM:545000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Elevated circulating creatine kinase concentration, Hypoglycosylation of alpha-dyst... OMIM:616052
Acromegaloid Facial Appearance Syndrome
Highly arched eyebrow, Large for gestational age OMIM:102150
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Aminoaciduria, Increased seru... OMIM:603358
Galactosemia Iii
Failure to thrive, Aminoaciduria, Hypergalactosemia, Galactosuria OMIM:230350
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... OMIM:607624
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, Mildly elevated creatine kinase, Flexion contracture, Scapular winging,... OMIM:616228
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... ORPHA:231111
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate c... ORPHA:35878
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Hypoglycemia, Nephrocalcinosis, Large for gestational age, Glyco... OMIM:616026
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Elevated ... OMIM:613954
Camptodactyly 1
Camptodactyly of finger, Increased urinary taurine OMIM:114200
Distal Myotilinopathy
Abnormal muscle fiber myotilin, Elevated circulating creatine kinase concentration, EMG: myopathi... ORPHA:98911
East Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia ORPHA:199343
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, 3-Methylglutaco... OMIM:618120
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Small Cell Carcinoma Of The Bladder
Recurrent urinary tract infections, Hypercalcemia, Hematuria, Dysuria ORPHA:284400
Dpm3-Cdg
Pelvic girdle muscle weakness, Rimmed vacuoles, Elevated creatine kinase after exercise, Muscular... ORPHA:263494
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Cachexia, Hypocalcemia ORPHA:1438
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Uremic Pruritus
Hypercalcemia, Chronic kidney disease, Stage 5 chronic kidney disease, Increased blood urea nitro... ORPHA:94059
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Elevated circulating creatine kina... ORPHA:437572
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypoketotic hypoglycemia, Small for gestational age, Elevated circulating creati... ORPHA:26793
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Elevated circulating creatine kinase concentration... ORPHA:75840
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Small for gestati... ORPHA:2260
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Episodic hypokalemia, Increased intramyocellular lipid droplets... ORPHA:681
Cystinuria
Ornithinuria, Cystinuria, Nephrolithiasis, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Acute tubulointerstitial... OMIM:607665
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Increased intramyocellular lipid droplets, Increased variability in... OMIM:619065
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy, Aminoaciduria OMIM:204730
Autosomal Dominant Hypocalcemia
Alopecia, Hypomagnesemia, Irregular hyperpigmentation, Abnormality of the nail, Hypocalcemia, Abn... ORPHA:428
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Thrombocytosis, Hypernatremia, Elevated circulating cre... ORPHA:94093
Hereditary Continuous Muscle Fiber Activity
Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl... ORPHA:972
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Nephrocalcinosis, Hypocalcemia OMIM:179800
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Hyperammonemia ORPHA:664
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating neopterin concentration, Hypomagnesemia, Abnormal circulating biopterin conc... ORPHA:1578
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Increased blood urea nitrogen, Membranoproliferative glomer... ORPHA:251004
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Chondrocalcinosis, Multiple lipomas OMIM:145981
Combined Oxidative Phosphorylation Deficiency 6
Increased serum pyruvate, Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Calcium nephrolithiasis, Hyperphosphatemia ORPHA:36913
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, EMG: myopathic abnormali... OMIM:609452
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content, Elevated circulating creatine kinase concentration, Hyp... OMIM:610717
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... OMIM:143880
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Obesity, Childhood-onset truncal obesity, Hypertriglyceridemia ORPHA:71529
Thrombotic Thrombocytopenic Purpura
Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency ORPHA:54057
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypoketotic hypoglycemia, Skeletal myopathy, Left ventricular hyper... ORPHA:746
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, ... OMIM:615422
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration... ORPHA:94089
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Timothy Syndrome
Hypoglycemia, Hypocalcemia OMIM:601005
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Elevated circulating creatine kina... OMIM:167320
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... ORPHA:486815
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... ORPHA:99879
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Torticollis, Failure to thrive, Slender build, Generalized amyotrophy... OMIM:254090
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Skeletal muscle atr... OMIM:617070
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Failure to thrive, Weight loss, Hematuria, Nephrolithiasis, Renal i... ORPHA:35710
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Lipodystrophy, Abdominal obesity, Elevated circulating ... OMIM:615980
Granulomatous Slack Skin
Hypercalcemia, Acute kidney injury, Nephrocalcinosis ORPHA:33111
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Elevated circulating creatine kinase concentration, Increased endomysial connective tissue, Flexi... OMIM:607855
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Dibasicaminoaciduria, Hyperlysinemia, Hyperammonemia OMIM:238750
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Failure to thrive, Hypopigmentation of the skin, Obesity, Childhood-ons... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Failure to thrive, Hypopigmentation of the skin, Obesity, Childhood-ons... ORPHA:71526
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Aminoaciduria OMIM:612075
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Acute kid... ORPHA:284426
Propionic Acidemia
Hypoglycemia, Organic aciduria, Hyperammonemia ORPHA:35
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Aminoaciduria ORPHA:2278
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... ORPHA:536516
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Abnormal circulat... ORPHA:597
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Renal insufficiency OMIM:240150
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Mildly elevated... ORPHA:254864
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia, Failure to thrive, Renal salt wasting OMIM:614736
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Myopathy, Decreased HDL cholesterol concentration, Tubulointerstitial neph... ORPHA:85450
Gitelman Syndrome
Chondrocalcinosis, Hypokalemia, Failure to thrive, Hypomagnesemia, Increased circulating renin level OMIM:263800
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression ORPHA:330054
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Saccharopinuria
Hypercystinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperammonemia, Citrullinur... ORPHA:3124
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Weight loss, Mildly elevated creatine kinase, Hypomagnesemia,... ORPHA:79102
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hyperphosphaturia, Calcinosis, Failure to thrive, Hypophosphatemia, Aminoaciduria,... OMIM:239200
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Myoglobinuria, Recurrent
Ragged-red muscle fibers, Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Salih Myopathy
Myopathy, Elevated circulating creatine kinase concentration, Facial palsy, Calf muscle hypertrop... OMIM:611705
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Elevated circulating creatine kinase concentration, E... OMIM:123320
Neonatal Hemochromatosis
Increased serum iron, Increased circulating ferritin concentration, Abnormal localization of kidn... ORPHA:446
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Carnitine Deficiency, Systemic Primary
Myopathy, Hypoglycemia, Failure to thrive, Hyperammonemia, Recurrent hypoglycemia, Reduced muscle... OMIM:212140
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Highly elevated creatine kinase, Skeletal muscle atrophy, Elevated circulating creatine kinase co... ORPHA:368
Gitelman Syndrome
Tubulointerstitial nephritis, Renal potassium wasting, Type I diabetes mellitus, Enuresis, Type I... ORPHA:358
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Microangiopathic hemolytic anemia, Hyperlipidemia, Elevated circulating creatinin... OMIM:235400
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Type II diabetes mellitus, Insulin resistance, Failure to thrive, Truncal obesity, ... ORPHA:181393
3-Methylglutaconic Aciduria Type 1
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67046
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Skeletal muscle atrophy, Hyperuricemia, Increased muscle glycogen content ORPHA:371
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Hyperbilirubinemia, Red hair OMIM:609734
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, Elevated circulating creatine kinase concentration, EMG: myopathic ab... OMIM:255160
Bardet-Biedl Syndrome 13
Obesity, Bone spicule pigmentation of the retina OMIM:615990
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Dent Disease 2
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... OMIM:300555
Pearson Syndrome
Pigmentary retinopathy, Neutropenia, Hypokalemia, Small for gestational age, Hyperpigmentation of... ORPHA:699
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Mildly elevate... ORPHA:401768
Cholera
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypoglycemia, Hypokalemia, ... ORPHA:173
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Increased circulating renin level, Hypokalemia OMIM:612780
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Weight loss, Hematuria ORPHA:69077
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Mildly elevated creatine kinase ORPHA:663
Oculocerebrodental Syndrome
Hypercalcemia, Nephrocalcinosis, Hypocalcemia ORPHA:557003
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Small for gestational age, Failure to thrive, Micropenis, Hypocalcemia OMIM:607143
Intellectual Developmental Disorder, X-Linked 97
Obesity, Synophrys OMIM:300803
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Calf muscle hypertrophy, Rimmed vacuoles OMIM:617760
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, El... OMIM:174000
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Decreased plasma free carnitine, Hypoglycemia, Failure to thrive, Hyperalaninemia, Left ventricul... OMIM:619048
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Micropenis, Hypercalciuria OMIM:614732
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Myopathy, Maternal diabetes, Skeletal muscle hypertrop... ORPHA:79083
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Chondrocalcinosis, Small for gestational age, Hypokalemia, Failure to thrive, Incr... OMIM:601678
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Dahlberg-Borer-Newcomer Syndrome
Renal insufficiency, Nephropathy, Hypocalcemia ORPHA:1563
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Abnormal circulating selenium concentration ORPHA:171706
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Hypoglycemia, Lacticaciduria, Elevated circulating creatine kinase concentration... OMIM:619386
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia, Histidinuria, Impaired histidine renal tubular absorption ORPHA:2158
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemic seizures, Failure to thrive, Hypophosphatemia, Hypocalcemia ORPHA:289157
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recurrent urinary ... OMIM:613095
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Hypermagnesemia, Multiple lipomas OMIM:600740
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Weight los... ORPHA:49041
Hypomagnesemia 3, Renal
Failure to thrive, Hyperuricemia, Hypomagnesemia OMIM:248250
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Skeletal muscle atrophy, Methylmalonic aciduria, Elevated circulating creatine kinase c... ORPHA:1933
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur... OMIM:134600
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Glycerol Kinase Deficiency
Myopathy, Hypoglycemia, Small for gestational age, Muscular dystrophy, Increased urinary glycerol... OMIM:307030
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, EMG: myopathic abnormalities, Mildly elevated creatine kinase, Increased variability in... ORPHA:397744
Congenital Myasthenic Syndromes With Glycosylation Defect
Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Elevated circulating creatin... ORPHA:353327
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Hematuria, Weight loss, Elevated urinary norepinephr... ORPHA:94080
Albers-Schönberg Osteopetrosis
Facial palsy, Hypocalcemia ORPHA:53
Myopathy, Centronuclear, 1
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... OMIM:160150
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age OMIM:601820
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Galactosemia I
Hypergalactosemia, Failure to thrive, Increased level of galactitol in urine, Increased level of ... OMIM:230400
Adult-Onset Distal Myopathy Due To Vcp Mutation
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... ORPHA:329478
Adamantinoma
Hypercalcemia ORPHA:55881
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Failure to thrive, Generalize... OMIM:602771
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age, Hyperalaninemia, Hyperammonemia, Elevated circulating se... OMIM:615160
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
3-Hydroxyisobutyric Aciduria
Failure to thrive, Aminoaciduria OMIM:236795
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Renal cyst, ... ORPHA:730
Laing Early-Onset Distal Myopathy
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... ORPHA:59135
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Ragged-red muscle fibers OMIM:616794
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemic tetany, Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypomag... ORPHA:73224
Syndromic X-Linked Intellectual Disability 7
Obesity, Sparse body hair ORPHA:85274
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus ORPHA:3199
Visceral Steatosis, Congenital
Hypoglycemia, Myocardial steatosis, Renal steatosis, Hypocalcemia OMIM:228100
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re... OMIM:613388
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Decrea... OMIM:310300
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Internall... ORPHA:98905
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Right ventricular hypertrophy, Elevated circulating creatine kinase conc... OMIM:253700
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Hypocalcemia ORPHA:47
Cystinosis
Myopathy, Renal tubular dysfunction, Hypokalemia, Failure to thrive, Hypophosphatemia, Type I dia... ORPHA:213
Sanjad-Sakati Syndrome
Myopathy, Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Oncogenic Osteomalacia
Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Hypocalcemia ORPHA:352540
Tiglic Acidemia
Aminoaciduria OMIM:275190
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Hypoglycemia, Renal sodium wasting, Hypokalemia, Increas... ORPHA:3337
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Facial paralysis, Facial palsy, Hypocalcemia OMIM:259700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Generalized amyotro... OMIM:258450
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... OMIM:618823
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Hypoglycemia, Failure to thrive, Acute hyperammonemia, Hyperglycinuria, ... OMIM:210210
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypomagnesemia, Amelogenesis imperfecta OMIM:248190
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia ORPHA:2123
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Methylmalonic aciduria, Failure to t... ORPHA:289504
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... OMIM:255320
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Increased total bilirubin, Hyperuricemia, Increased muscle glycog... OMIM:232800
Bacterial Toxic-Shock Syndrome
Myositis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine con... ORPHA:36234
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test OMIM:229100
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Cachexia, Skeletal muscle atrophy, Hypoglycemia, Elevated circul... ORPHA:42
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... OMIM:605355
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, ... ORPHA:2089
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Maturity-onset diabetes of the young, Elevated circulating creatin... OMIM:137920
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, Lipoma, Renal h... ORPHA:405
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase concentration, Genera... ORPHA:52430
Glutamate-Cysteine Ligase Deficiency
Myopathy, Aminoaciduria ORPHA:33574
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH ad... ORPHA:79444
Combined Oxidative Phosphorylation Deficiency 49
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers OMIM:619024
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Small for gestational age, Hypokalemia, Failure to thrive, Hypochloremia, Hypomagne... ORPHA:89938
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... OMIM:614376
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Elevated circulating creatine kinase concentration, Rimmed vacuoles, Skeletal ... OMIM:619518
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... ORPHA:98855
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Failure to thrive, Facial palsy, Type 1 fibers relatively smaller than ty... OMIM:255310
Central Precocious Puberty
Abnormality of secondary sexual hair, Overgrowth, Obesity, Increased body weight, Cafe-au-lait spot ORPHA:759
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Insulin resista... ORPHA:2348
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary re... OMIM:145001
Galactose Epimerase Deficiency
Weight loss, Aminoaciduria ORPHA:79238
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Nephrolithiasis, Hypocalcemia ORPHA:93160
Bartter Syndrome, Type 2, Antenatal
Chondrocalcinosis, Small for gestational age, Hypokalemia, Failure to thrive, Increased serum pro... OMIM:241200
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... OMIM:618913
Diffuse Alveolar Hemorrhage
Hematuria, Weight loss, Elevated circulating creatinine concentration, Proteinuria ORPHA:90060
Pseudohypoparathyroidism, Type Ic
Obesity, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphospha... OMIM:612462
Fanconi-Bickel Syndrome
Hypouricemia, Hyperphosphaturia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... OMIM:227810
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Gracile Bone Dysplasia
Failure to thrive, Micropenis, Hypocalcemia OMIM:602361
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Abnormal renal medulla morphology,... ORPHA:439232
Cystathioninuria
Nephrolithiasis, Cystathioninuria, Cystathioninemia ORPHA:212
Griscelli Syndrome Type 2
Partial albinism, Neutropenia, Hyperlipidemia, Splenomegaly, Iris hypopigmentation, Pancytopenia,... ORPHA:79477
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Renal insufficiency, Acute kidney injury, Uric acid nephrolithiasis, Crystalluri... ORPHA:411536
Hypophosphatasia, Infantile
Hypercalcemia, Elevated urine pyrophosphate, Nephrocalcinosis, Failure to thrive, Elevated plasma... OMIM:241500
Pyruvate Dehydrogenase E3 Deficiency
Hyperisoleucinemia, Hypoglycemia, Failure to thrive, Increased urine alpha-ketoglutarate concentr... ORPHA:2394
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Hypocalcemic seizures, Renal dysplasia, Hypocalcemia, Polycystic kidney dysplasia... ORPHA:2237
Bethlem Myopathy
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... ORPHA:610
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Abnormal circulating creatine kinase concentration, Muscle fiber atrophy, Muscular dyst... ORPHA:369840
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Fasting hypoglycemia, Nephrocalcinosis, Failure to ... ORPHA:2088
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Weakness of facial musculature, Arthrogryposis multiplex congenita, Fl... OMIM:618484
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:615703
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular dysfunction, Decreased urine output, Hematuria, Facial palsy, Renal t... ORPHA:31826
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W...