Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Ppp3ca MGI:107164

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

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

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	Allele	Zyg	Life Stage	P Value
increased total body fat amount	Ppp3ca^{tm2e(EUCOMM)Wtsi}	HOM	Early adult	7.88×10^-05
abnormal coat/hair pigmentation	Ppp3ca^{tm2e(EUCOMM)Wtsi}	HOM	Early adult	2.34×10^-06
increased body weight	Ppp3ca^{tm2e(EUCOMM)Wtsi}	HOM	Early adult	2.12×10^-06
abnormal tail movements	Ppp3ca^{tm2e(EUCOMM)Wtsi}	HOM	Early adult	5.60×10^-06
decreased circulating amylase level	Ppp3ca^{tm2e(EUCOMM)Wtsi}	HOM	Early adult	6.22×10^-05
increased blood urea nitrogen level	Ppp3ca^{tm2e(EUCOMM)Wtsi}	HOM	Early adult	1.67×10^-06
decreased circulating magnesium level	Ppp3ca^{tm2e(EUCOMM)Wtsi}	HOM	Early adult	3.40×10^-05
decreased mean corpuscular volume	Ppp3ca^{tm2e(EUCOMM)Wtsi}	HOM	Early adult	3.84×10^-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	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
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

Ppp3ca^{tm2e(EUCOMM)Wtsi}
body, HOM, Male, WTSI

Ppp3ca^{tm2e(EUCOMM)Wtsi}
head, HOM, Male, WTSI

Ppp3ca^{tm2e(EUCOMM)Wtsi}
body, HOM, Female, WTSI

View all 65 images

Ppp3ca^{tm2e(EUCOMM)Wtsi}
abnormal epidermis stratum basale morphology, HOM, Female, WTSI

Ppp3ca^{tm2e(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Ppp3ca^{tm2e(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.

Human diseases associated with Ppp3ca (3 diseases)
Human diseases predicted to be associated with Ppp3ca (845 diseases)

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

Disease	Matching phenotypes	Source
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Hydronephrosis, Decreased body weight, Arthrogryposis multiplex congenita, Vesicoureteral reflux	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	Matching phenotypes	Source
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
Uridine-Cytidineuria	Elevated urinary uridine level, Elevated urinary cytidine	OMIM:618477
Polyglucosan Body Myopathy 2	Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi...	OMIM:616199
Myopathy, Distal, With Rimmed Vacuoles	Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG...	OMIM:617158
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,...	OMIM:618655
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Hypomagnesemia, Class III obesity	OMIM:616418
Inclusion Body Myositis	Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Elevated circulating creatine k...	ORPHA:611
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F...	OMIM:618848
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Nonaka Myopathy	Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr...	OMIM:605820
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Abnormal circulating acylcarnitine concentration, Elevated circ...	OMIM:620235
Gne Myopathy	Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor...	ORPHA:602
Myopathy, Distal, 5	Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We...	OMIM:617030
2P21 Microdeletion Syndrome	Hypocalcemia, Nephrolithiasis, Failure to thrive, Hypoglycemia, Cystinuria	ORPHA:163693
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Muscle fiber necrosis, Elevated circulating creatine kinase concentration, Increas...	OMIM:620138
Hereditary Myopathy With Early Respiratory Failure	Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m...	ORPHA:178464
Renal Failure, Progressive, With Hypertension	Microscopic hematuria, Nephritis, Proteinuria, Elevated circulating creatinine concentration, Sta...	OMIM:161900
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Failure...	OMIM:613845
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Increased blood urea nitrogen, Glycosuria, Proteinuria, Renal inters...	OMIM:614817
Welander Distal Myopathy	Mildly elevated creatine kinase, Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist...	OMIM:601954
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Decreased body weight, Hyperleucinemia, Increased blood urea ...	OMIM:620085
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Elevated circulat...	OMIM:609115
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia, Ragged-red muscle fibers, Hypocalcemia, Facial palsy, Nephrolithiasis, Fai...	OMIM:606407
Mitochondrial Myopathy With Diabetes	Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakness of orbicularis ocu...	OMIM:500002
Myopathy, Sarcoplasmic Body	Sarcoplasmic bodies, Elevated circulating creatine kinase concentration, Weakness of the intrinsi...	OMIM:620286
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Proximal muscle weakness in upper limbs, Exercise-induced myog...	ORPHA:99845
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Lower limb amyotrophy, Myoglobinuria, Calf muscle hypertrophy, Wrist flexion contracture, Upper l...	ORPHA:206549
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Elevate...	ORPHA:266
Oculopharyngodistal Myopathy 2	Rimmed vacuoles, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration...	OMIM:618940
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration, Foot...	OMIM:615883
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Elevated circulating ...	OMIM:619733
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Rimmed vacuoles, Elevated circulating creatine kinase concentratio...	OMIM:615424
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Nail dysplasia, Nail dystrophy, Anemia, Hypokalemia, Hyperpigmentation of the skin, Hypocalcemia,...	OMIM:175500
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Distal Myopathy, Welander Type	Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Intrinsic hand muscl...	ORPHA:603
Glycogen Storage Disease Ixd	Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Exercise-indu...	OMIM:300559
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Failure to thrive, Elevated circulating creatinine concentration, ...	OMIM:617872
Myopathy, Myofibrillar, 5	Muscle fiber splitting, Elevated circulating creatine kinase concentration, Muscle fiber cytoplas...	OMIM:609524
Tibial Muscular Dystrophy	Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ce...	ORPHA:609
Myopathy, Myofibrillar, 3	Muscle fiber splitting, Distal amyotrophy, Elevated circulating creatine kinase concentration, Mu...	OMIM:609200
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu...	ORPHA:457050
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Ragged-red muscle fibers, Facial palsy, Elevated circulating creatine kinase concentration, Proxi...	OMIM:616209
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair	OMIM:609227
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Obesity	OMIM:603233
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration	OMIM:615361
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large...	OMIM:214450
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis...	OMIM:179800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, EMG: myopathic abnormalitie...	OMIM:608099
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Wrist flexion contracture, Nemaline bodies, Elevated circulating creatine kinase concentration, L...	OMIM:620386
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Hypercalcemia, Infantile, 2	Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,...	OMIM:616963
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, El...	OMIM:254110
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Hypomagnesemia 6, Renal	Hypomagnesemia	OMIM:613882
Myopathy, Distal, Tateyama Type	Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Hand muscle weakness...	OMIM:614321
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl...	ORPHA:488650
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform	OMIM:302045
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia	OMIM:601198
Saccharopinuria	Elevated circulating saccharopine concentration, Histidinuria, Elevated urinary saccharopine leve...	OMIM:268700
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Foot dorsiflexor weakne...	OMIM:181400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Muscle fiber splitting, Scapular winging, Elevated circulating creatine kinase concentration, Inc...	OMIM:618129
Alpha-B Crystallin-Related Late-Onset Myopathy	Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v...	ORPHA:399058
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Elevated circulating cr...	OMIM:253601
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti...	ORPHA:567544
Spinal Muscular Atrophy, Type Iv	Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necrosis, Increas...	OMIM:271150
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
Myopathy, Autophagic Vacuolar, Infantile-Onset	Elevated circulating creatine kinase concentration, Autophagic vacuoles, Myopathy	OMIM:609500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Muscular dystrophy, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentrat...	OMIM:608807
Hyperprolinemia, Type Ii	Prolinuria, Hyperglycinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid...	OMIM:239510
Nephrotic Syndrome, Type 16	Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria	OMIM:617783
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Muscular dystrophy, Elevated circulating creatine concentration, Rimmed vacuoles, Scapular wingin...	OMIM:608423
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete...	ORPHA:1878
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Elevated circulating creatinine concentration, Renal phosphate ...	ORPHA:411634
Hereditary Renal Hypouricemia	Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration...	ORPHA:94088
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb amy...	OMIM:620068
Oculopharyngeal Muscular Dystrophy	Ragged-red muscle fibers, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Ab...	ORPHA:270
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Muscular dystrophy, Torticollis, Elevated circulating creatine kinase concentration, Increased va...	OMIM:613204
Iminoglycinuria	Hyperglycinuria, Prolinuria, Hydroxyprolinuria	OMIM:242600
Iminoglycinuria	Hyperglycinuria, Prolinuria, Hydroxyprolinuria	ORPHA:42062
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia, Myopathy	ORPHA:366
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Organic aciduria, Hyperammonemia, Failure to thrive i...	ORPHA:6
Blue Diaper Syndrome	Blue urine, Increased body weight, Increased proinsulin:insulin ratio, Nephrocalcinosis, Hypercal...	ORPHA:94086
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Ele...	OMIM:300696
Oculopharyngeal Muscular Dystrophy 1	Ragged-red muscle fibers, Facial palsy, Elevated circulating creatine kinase concentration, Limb ...	OMIM:164300
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Increased variability in mu...	OMIM:616471
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Elevated circulating cre...	OMIM:611615
Myopathy, Tubular Aggregate, 1	Elevated circulating creatine kinase concentration, Weakness of the intrinsic hand muscles, Incre...	OMIM:160565
Nephrotic Syndrome, Type 18	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:618178
Nephrotic Syndrome, Type 20	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:301028
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612925
Myasthenic Syndrome, Congenital, 14	Knee flexion contracture, Ragged-red muscle fibers, Scapular winging, Muscle fiber tubular inclus...	OMIM:616228
Focal Segmental Glomerulosclerosis 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:616032
Mitochondrial Myopathy, Infantile, Transient	Increased muscle glycogen content, Decreased circulating carnitine concentration, Ragged-red musc...	OMIM:500009
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W...	OMIM:619566
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopa...	OMIM:618992
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612926
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612924
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy...	OMIM:620402
Primary Intestinal Lymphangiectasia	Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Reduced prop...	ORPHA:90362
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul...	ORPHA:276435
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Muscular dystrophy, Scapular winging, Elevated circulating creatine kinase concentration, Increas...	OMIM:612999
Hyperprolinemia Type 1	Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria	ORPHA:419
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ...	OMIM:615605
Hypomagnesemia 2, Renal	Chondrocalcinosis, Hypomagnesemia, Hypokalemia	OMIM:154020
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap...	OMIM:301075
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Elevated circulati...	OMIM:601846
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration...	OMIM:614723
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Elevated circulating creatine kinase concentration, Increased variability in mus...	OMIM:300718
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypocalcemia, Insulin resistance, Diabetes mellitus, Hypercholesterolemia	OMIM:612526
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Congenital Myopathy 18	Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete...	OMIM:620246
Miyoshi Muscular Dystrophy 1	Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated ...	OMIM:254130
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr...	OMIM:617760
Myofibrillar Myopathy 11	Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase...	OMIM:619178
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l...	OMIM:616924
Spinal Muscular Atrophy, Infantile, James Type	Distal amyotrophy, Increased variability in muscle fiber diameter, Hip contracture, Type 1 muscle...	OMIM:619042
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Elevated circulating creatine kinase concentration, Increased variability in mus...	OMIM:612937
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Proximal muscle weakness in upper limbs, Exercise-induced myoglobinuria, Calf muscle pseudohypert...	ORPHA:352479
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Failure to thrive	ORPHA:172
Coenzyme Q10 Deficiency, Primary, 8	Abnormal renal corticomedullary differentiation, Flexion contracture, Left ventricular hypertroph...	OMIM:616733
Familial Isolated Hypoparathyroidism	Hypocalcemia, Nephropathy, Myopathy	ORPHA:2238
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Tubular Aggregate Myopathy	Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi...	ORPHA:2593
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Elevated circ...	OMIM:603689
Dibasic Amino Aciduria I	Hyperlysinuria, Ornithinuria, Argininuria, Dibasicaminoaciduria	OMIM:222690
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Muscle fiber atrophy, Upper limb muscle weakn...	ORPHA:309169
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Failure to thrive, Nephroc...	OMIM:143880
Orthostatic Hypotension 1	Neonatal hypoglycemia, Increased blood urea nitrogen, Hypomagnesemia, Nocturia, Weakness of facia...	OMIM:223360
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete...	OMIM:620542
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Increased variability in muscle fiber diameter,...	OMIM:613752
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Elevated circula...	OMIM:619473
Myopathy, Distal, 1	Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis anterior muscle atrophy, Am...	OMIM:160500
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94090
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,...	OMIM:253700
Adult-Onset Nemaline Myopathy	Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn...	ORPHA:171442
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari...	OMIM:117000
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentration, Stage 5 c...	OMIM:248250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Ragged-red muscle fibers, Scapular winging, Elevated circulating creatine kinase concentration, S...	OMIM:617069
Nephronophthisis-Like Nephropathy 2	Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Elevated circulating creatinine co...	OMIM:619468
C3 Glomerulopathy	Acute kidney injury, Hematuria, Nephrotic syndrome, Proteinuria, Mesangial hypercellularity, Chro...	ORPHA:329918
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia, Anemia	OMIM:244460
Congenital Myopathy 14	Knee flexion contracture, Abnormal circulating creatine kinase concentration, Elbow flexion contr...	OMIM:618414
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Hypoargininemia	ORPHA:147
Nemaline Myopathy 2	Muscle fiber splitting, Calf muscle pseudohypertrophy, Rimmed vacuoles, EMG: myopathic abnormalit...	OMIM:256030
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Renal tubular dysfu...	OMIM:606528
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle...	ORPHA:34516
Oculoskeletodental Syndrome	Hypercalciuria, Hypocalcemia, Elbow flexion contracture, Mucopolysacchariduria, Renal agenesis, H...	OMIM:618440
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr...	OMIM:300539
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ...	OMIM:220150
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hypocalcemic seizures, Hyperphosphatemia, Nephrocalcinosis	OMIM:146200
Preeclampsia	Abnormality of the kidney, Acute kidney injury, Type I diabetes mellitus, Proteinuria, Chronic ki...	ORPHA:275555
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle...	OMIM:618138
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate	OMIM:242530
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypomagnesemia, Hypokalemia	OMIM:618314
Tietz Syndrome	White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:42665
Blue Diaper Syndrome	Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration	OMIM:211000
Severe X-Linked Mitochondrial Encephalomyopathy	Increased variability in muscle fiber diameter, Increased serum pyruvate, Skeletal muscle atrophy	ORPHA:238329
Zebra Body Myopathy	Muscle fiber splitting, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnorma...	ORPHA:97240
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Weakness of facial musculature, ...	OMIM:620265
Glycogen Storage Disease V	Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Exercise-induce...	OMIM:232600
Camptodactyly-Taurinuria Syndrome	Camptodactyly of toe, Camptodactyly of finger, Increased urinary taurine, Aminoaciduria	ORPHA:1325
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Renal tubular acidosis, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Hypercalcemia	OMIM:239199
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal...	ORPHA:31824
Congenital Myopathy 10A, Severe Variant	Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Elevated circulating creatine ...	OMIM:614399
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Incre...	ORPHA:119
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Nail dystrophy, Neutropenia, Iron deficiency anemia, Reduced proport...	ORPHA:37042
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Angulated muscle fibers, Scapular winging, Shoulder girdle muscle weakness, Weakness of facial mu...	OMIM:619477
Finnish Upper Limb-Onset Distal Myopathy	Amyotrophy of ankle musculature, Rimmed vacuoles, EMG: myopathic abnormalities, Weakness of the i...	ORPHA:399086
Myopathy, Centronuclear, 1	Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle...	OMIM:160150
Glucoglycinuria	Glycosuria, Hyperglycinuria	OMIM:138070
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc...	OMIM:608358
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Elevated circulating long chai...	ORPHA:228302
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Thrombocyto...	OMIM:619743
Neurodevelopmental Disorder With Language Delay And Seizures	Hypomagnesemia	OMIM:619908
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype...	ORPHA:189
Myopathy, Centronuclear, 4	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal circulatin...	OMIM:614807
Muscular Dystrophy, Limb-Girdle, Type 1H	Muscular dystrophy, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, ...	OMIM:613530
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Abnormal Z disk morphology, Increased variability in...	OMIM:618654
Oculopharyngodistal Myopathy 4	Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Elevated circulating creatine...	OMIM:619790
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Muscular dystrophy, Calf muscle hypertrophy, Triceps weakness, Elevated circulating creatine kina...	ORPHA:86812
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Muscular dystrophy, Ankle flexion contracture, Elevated circulating creatine kinase concentration...	OMIM:617072
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete...	OMIM:618484
Gracile Syndrome	Increased circulating iron concentration, Increased circulating ferritin concentration, Increased...	OMIM:603358
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Hyperinsulinism-Hyperammonemia Syndrome	Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic ...	ORPHA:35878
Griscelli Syndrome, Type 2	Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation ...	OMIM:607624
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ragged-red muscle fibers, Increased serum pyruvate, Myopathy	OMIM:545000
Inclusion Body Myositis	Rimmed vacuoles, Inflammatory myopathy	OMIM:147421
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr...	ORPHA:263458
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Elevated circulating cr...	OMIM:613157
Muscular Dystrophy, Cardiac Type	Elevated circulating creatine kinase concentration, Muscular dystrophy, Carnosinuria	OMIM:309930
Myopathy, Myofibrillar, 7	Urinary incontinence, Shoulder flexion contracture, Enuresis nocturna, Elbow flexion contracture,...	OMIM:617114
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, Elevated circulating cre...	OMIM:609560
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypoglycemia, Hypercholestero...	OMIM:232700
Galactosemia Iii	Failure to thrive, Hypergalactosemia, Aminoaciduria, Galactosuria	OMIM:230350
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Acute kidney injury, Myoglobinuria, EMG: myopathic abnormalities, Elevated creatine...	ORPHA:57
Myopathy, Scapulohumeroperoneal	Scapular winging, Facial palsy, Nemaline bodies, Increased variability in muscle fiber diameter, ...	OMIM:616852
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber...	OMIM:616313
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr...	ORPHA:79233
Muscle Filaminopathy	Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Scapul...	ORPHA:171445
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Facial palsy, Elevated circulating c...	OMIM:603511
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase con...	ORPHA:26793
Congenital Myopathy 5 With Cardiomyopathy	Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Increased variabilit...	OMIM:611705
Childhood-Onset Nemaline Myopathy	Generalized limb muscle atrophy, Facial diplegia, Scapular winging, EMG: myopathic abnormalities,...	ORPHA:171439
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Elevated c...	OMIM:617056
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Frontalis muscle weakness, Decreased body weight, Facial palsy, Type 1 fibers relatively smaller ...	OMIM:300580
Drug-Induced Lupus Erythematosus	Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina...	ORPHA:231111
Combined Oxidative Phosphorylation Deficiency 36	Aciduria, Hyperalaninemia, Failure to thrive, Hypoglycemia, Lower limb muscle weakness	OMIM:617950
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Myopathy, Distal, 3	Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Mildly elev...	OMIM:610099
Pseudohypoparathyroidism, Type Ic	Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Obesity, Hypocalcemic tetany...	OMIM:612462
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair, Neutropenia	ORPHA:90023
East Syndrome	Increased circulating renin level, Hypomagnesemia, Hypokalemia	ORPHA:199343
Cryoglobulinemia, Familial Mixed	Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c...	OMIM:123550
Hyperlysinuria With Hyperammonemia	Hyperlysinuria, Hyperammonemia, Dibasicaminoaciduria, Hyperlysinemia	OMIM:238750
Uremic Pruritus	Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo...	ORPHA:94059
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Lower ...	OMIM:620452
Small Cell Carcinoma Of The Bladder	Hypercalcemia, Recurrent urinary tract infections, Dysuria, Hematuria	ORPHA:284400
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Hypomagnesemia, Abnormal cir...	ORPHA:1578
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Proximal muscle weakness in upper limbs, Abnormal circulating creatine kinase concentration, Lowe...	OMIM:620375
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Increased adipose tissue, Obesity	ORPHA:71529
Medullary Sponge Kidney	Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis	ORPHA:1309
Cystinuria	Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R...	OMIM:220100
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scapular winging, Upper limb muscle weakn...	ORPHA:353
Autosomal Dominant Hypocalcemia	Irregular hyperpigmentation, Hypocalcemia, Abnormality of the nail, Abnormal fingernail morpholog...	ORPHA:428
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase con...	ORPHA:94093
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Hypoglycemia, Aminoaciduria	ORPHA:664
Combined Oxidative Phosphorylation Deficiency 31	Hyperalaninemia, Increased variability in muscle fiber diameter, Failure to thrive, Increased int...	OMIM:617228
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine...	ORPHA:98870
Myopathy, Myofibrillar, 2	Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Elevated circulating cr...	OMIM:608810
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Increased blood urea nitrogen, Obesity, Hypercalcemia, Macroscopic hematuria, Pr...	ORPHA:251004
Congenital Myopathy 10B, Mild Variant	Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle...	OMIM:620249
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Failure to thrive, Hypocystinemia, Hypohomocysteinemia	OMIM:617744
Oligomeganephronia	Congenital diaphragmatic hernia, Elevated circulating creatinine concentration, Abnormal nephron ...	ORPHA:2260
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Multiple lipomas, Hypercalcemia, Chondrocalcinosis	OMIM:145981
Saccharopinuria	Elevated plasma citrulline, Cystinuria, Hypercystinemia, Hyperlysinemia, Hyperammonemia, Abnormal...	ORPHA:3124
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Hypocalcemia, Calcium nephrolithiasis, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:36913
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	3-Methylglutaconic aciduria, Ankle flexion contracture, Elevated circulating creatine kinase conc...	OMIM:618120
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2668
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency	ORPHA:54057
Ullrich Congenital Muscular Dystrophy	Torticollis, Elbow flexion contracture, EMG: myopathic abnormalities, Elevated circulating creati...	ORPHA:75840
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hyperphosphaturia, Hypophosphatemia	ORPHA:89937
Congenital Myopathy 3 With Rigid Spine	Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Decreased body...	OMIM:602771
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Distal amyotrophy, Rimmed vacuoles, Scapular winging, Facial palsy, Elevated circulating creatine...	OMIM:167320
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Muscular dystrophy, Aminoaciduria	OMIM:204730
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Ragged-red muscle fibers, Rhabdomyolysis, Skeletal muscle atrophy, Elevated circulating creatine ...	OMIM:617070
Obesity Due To Prohormone Convertase I Deficiency	Childhood-onset truncal obesity, Red hair, Increased adipose tissue, Hypopigmentation of the skin...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Childhood-onset truncal obesity, Red hair, Increased adipose tissue, Hypopigmentation of the skin...	ORPHA:71526
Dpm3-Cdg	Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Elevated creatine kinase after exer...	ORPHA:263494
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Increased intramyocellular lipid droplets, Mildly elevated creatine kinase,...	ORPHA:681
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Protein...	OMIM:616026
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Hypoglycemia, Elevated urinary dopamine level, Increased blood urea nitrogen, N...	ORPHA:230
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Limb...	OMIM:613954
Myasthenic Syndrome, Congenital, 12	Ragged-red muscle fibers, Proximal amyotrophy, Facial palsy, Mildly elevated creatine kinase	OMIM:610542
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Pseudohypoparathyroidism Type 1B	Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Hypoc...	ORPHA:94089
Myopathy, X-Linked, With Excessive Autophagy	Muscle fiber necrosis, Elevated circulating creatine kinase concentration, Skeletal muscle autoph...	OMIM:310440
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, EMG: myopathic abnormaliti...	OMIM:600334
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri...	OMIM:619947
Congenital Myopathy 6 With Ophthalmoplegia	Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Increased variability in...	OMIM:605637
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia, Hypocalcemia, Skeletal myopathy, Rhabdomyolysis, Left ventricular hyper...	ORPHA:746
Congenital Myopathy 20	Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in muscle fiber ...	OMIM:620310
Propionic Acidemia	Hyperammonemia, Hypoglycemia, Organic aciduria	ORPHA:35
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemic seizures, Generalized aminoaciduria, Hypocalcemia, Failure to thrive, Hypophosphatemia	OMIM:264700
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Failure to thrive, Aminoaciduria	ORPHA:2278
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia	OMIM:608320
Thyrotoxic Periodic Paralysis	Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Obesity, Hypomagnesemia, Weight l...	ORPHA:79102
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Exe...	ORPHA:284426
Renal Tubular Acidosis, Proximal	Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis	OMIM:179830
Multiminicore Myopathy	Muscular dystrophy, Proximal muscle weakness in upper limbs, Failure to thrive, Minicore myopathy...	ORPHA:598
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Elevated circulating c...	OMIM:609452
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Microscopic hematuria, Increased blood urea nitrogen, Abnormal renal p...	OMIM:274150
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Glycogen Storage Disease Vii	Increased muscle glycogen content, Exercise-induced myoglobinuria, Hematuria, Hyperuricemia, Elev...	OMIM:232800
Obesity And Hypopigmentation	Obesity, Red hair, Overgrowth	OMIM:620195
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cort...	OMIM:602088
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Hereditary Amyloidosis With Primary Renal Involvement	Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Decreased glomerula...	ORPHA:85450
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Hypercalcemia	ORPHA:33111
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in muscle fiber diamete...	ORPHA:486815
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc...	OMIM:619065
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,...	OMIM:240900
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Glucose-Galactose Malabsorption	Hematuria, Nephrolithiasis, Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss, Renal i...	ORPHA:35710
Bardet-Biedl Syndrome 13	Obesity, Bone spicule pigmentation of the retina	OMIM:615990
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Hyperammonemia, Rha...	OMIM:618416
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Congenital Myopathy 1B, Autosomal Recessive	Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Nemaline bodie...	OMIM:255320
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hypercalciuria, Hyperphosphaturia, Failure to thrive, Hypercalcemia, Hypoph...	OMIM:239200
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Failure to thrive, Hypomagnesemia, Chondrocalcinosis	OMIM:263800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Muscular dystrophy, Muscle fiber necrosis, Elevated circulating creatine kinase concentration, Li...	OMIM:616812
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi...	OMIM:235400
Central Core Disease	Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Abnormal circulating creatine ki...	ORPHA:597
Cholera	Acute kidney injury, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormality of renal excretion, Abn...	ORPHA:173
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Myositis, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Centrally nucleate...	OMIM:615422
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased circulating iron concentration, Hypoglyce...	ORPHA:446
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Alaninuria	OMIM:615158
Cystinosis, Nephropathic	Hypophosphatemic rickets, Hypopigmentation of hair, Reduced blood urea nitrogen, Hypokalemia, Dec...	OMIM:219800
Argininemia	Hyperammonemia, Diaminoaciduria	ORPHA:90
Gitelman Syndrome	Urinary incontinence, Renal potassium wasting, Nocturia, Type I diabetes mellitus, Renal tubular ...	ORPHA:358
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia	OMIM:618618
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper...	OMIM:615160
Pearson Syndrome	Anemia, Hypokalemia, Hyperpigmentation of the skin, Pancytopenia, Hypocalcemia, Hyperalaninemia, ...	ORPHA:699
Intellectual Developmental Disorder, X-Linked 97	Obesity, Synophrys	OMIM:300803
Ullrich Congenital Muscular Dystrophy 1A	Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,...	OMIM:254090
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:93324
Oculoskeletodental Syndrome	Hypocalcemia, Nephrocalcinosis, Hypercalcemia	ORPHA:557003
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	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Failure to thrive, Left ventricular hypertrophy, Increased urine succinate level...	OMIM:619048
Glutamate Formiminotransferase Deficiency	Positive ferric chloride test, Elevated urinary formiminoglutamic acid level, Aminoaciduria	OMIM:229100
Familial Isolated Hyperparathyroidism	Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia, Renal insuf...	ORPHA:99879
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Hyperuricemia, Tu...	OMIM:174000
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Muscular dystrophy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ...	OMIM:617066
Myoglobinuria, Recurrent	Ragged-red muscle fibers, Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities	OMIM:609283
Combined Oxidative Phosphorylation Deficiency 52	Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentration, Hypoglycemi...	OMIM:619386
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Elevated circulating cre...	OMIM:123320
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hypocalcemia, Hyponatremia, Obesity, Hypoa...	ORPHA:247353
Hyperparathyroidism 4	Hypercalcemia, Nephrolithiasis	OMIM:617343
Non-Functioning Paraganglioma	Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Elevated ur...	ORPHA:94080
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea...	OMIM:300555
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Decreased circulating carnitine concentration, Hyperglycinuria, Organic aciduria, Hyperleucinemia...	OMIM:210210
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber type grouping, Angulat...	OMIM:608340
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Hypocalcemia, Failure to thrive, Hypoglycemia, Micropenis, Small for gestational age	OMIM:607143
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hyponatremia, Nep...	OMIM:617913
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, Mothe...	OMIM:226670
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Failure to thrive...	OMIM:601678
Congenital Multicore Myopathy With External Ophthalmoplegia	Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy...	ORPHA:98905
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Mildly elevated creatine kinase, Abnormal mitochondria in muscle tissue	ORPHA:663
Proximal Myopathy With Extrapyramidal Signs	Mildly elevated creatine kinase, Increased variability in muscle fiber diameter, Centrally nuclea...	ORPHA:401768
Rhabdoid Tumor	Hypercalcemia, Renal neoplasm, Hematuria, Weight loss	ORPHA:69077
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Adult-Onset Distal Myopathy Due To Vcp Mutation	Urinary incontinence, Abnormality of the musculature of the lower limbs, Necrotizing myopathy, Fa...	ORPHA:329478
Myopathic Ehlers-Danlos Syndrome	Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, Congenital mus...	ORPHA:536516
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycystic kidney dyspla...	OMIM:608836
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Elevated circulating C-reactiv...	ORPHA:49041
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Elevated circulating creatine kinase concentration, Muscular dystrophy, Increased endomysial conn...	OMIM:607855
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia, Multiple lipomas, Chondrocalcinosis	OMIM:600740
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta, Hypomagnesemia, Abnormal circulating calcium concentration	OMIM:248190
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia, Nephropathy, Renal insufficiency	ORPHA:1563
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Elevated circulating creatine kinase concentration, Skeletal muscle atrophy, Methylmalo...	ORPHA:1933
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Increased muscle glycogen content, Decreased circulating carnitine concentration, Ragged-red musc...	ORPHA:254864
Primary Hyperoxaluria Type 3	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ...	ORPHA:93600
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio...	OMIM:619632
Albinism, Oculocutaneous, Type Iv	Albinism, Blue irides, Hypopigmentation of hair	OMIM:606574
Timothy Syndrome	Hypocalcemia, Hypoglycemia	OMIM:601005
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:300946
Xanthinuria, Type Ii	Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc...	OMIM:603592
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cyst...	OMIM:613095
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Increased circulating renin level, Hypomagnesemia, Hypokalemia	OMIM:612780
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
3-Hydroxyisobutyric Aciduria	Failure to thrive, Aminoaciduria	OMIM:236795
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete...	OMIM:151800
Albers-Schönberg Osteopetrosis	Hypocalcemia, Facial palsy	ORPHA:53
Stimmler Syndrome	Type II diabetes mellitus, Aminoaciduria	ORPHA:3199
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi...	OMIM:617021
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Failure to thrive, Postprandial hyperglycemia, ...	ORPHA:2089
Primary Fanconi Renotubular Syndrome	Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho...	ORPHA:3337
Bartter Syndrome Type 4	Severe failure to thrive, Hypokalemia, Hypochloremia, Increased circulating renin level, Failure ...	ORPHA:89938
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Failure to thrive, Hypophosphatemia	OMIM:600081
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Muscular dystrophy, Increased variability in muscle fiber diameter, Proximal amyotrophy, Skeletal...	OMIM:614302
Oncogenic Osteomalacia	Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting	ORPHA:352540
X-Linked Agammaglobulinemia	Hypocalcemia, Failure to thrive, Weight loss	ORPHA:47
Adamantinoma	Hypercalcemia	ORPHA:55881
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic aciduria, Methylmalonic acidemia, Failure to thrive, Dicarboxylic acidemia, Hypoglyc...	ORPHA:289504
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers, Fatty replacement o...	OMIM:618823
Griscelli Syndrome Type 2	Premature graying of hair, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia, Hyperlipidem...	ORPHA:79477
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Hematuria, Proteinuria, Weight loss	ORPHA:90060
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Muscular dystrophy, Central core regions in muscle fibers	OMIM:159050
Muscular Dystrophy, Congenital, Lmna-Related	Proximal upper limb amyotrophy, Muscular dystrophy, Upper limb muscle weakness, Elevated circulat...	OMIM:613205
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, Abnormal renal tubular resorption, Hypermag...	ORPHA:73224
Cystinosis	Hypokalemia, Nephropathy, Failure to thrive, Proteinuria, Hypophosphatemia, Type I diabetes melli...	ORPHA:213
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	EMG: myopathic abnormalities, Mildly elevated creatine kinase, Increased variability in muscle fi...	ORPHA:397744
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Maternal diabetes, Abnormality of skeletal muscle fiber size, Hyperuricemia...	ORPHA:79083
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Cachexia, Elevated circulating creatine kinase concentration, Hypoglycemia...	ORPHA:42
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph...	OMIM:134600
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration	OMIM:620366
Congenital Myasthenic Syndromes With Glycosylation Defect	Ragged-red muscle fibers, Scapular winging, Facial palsy, Muscle fiber tubular inclusions, Genera...	ORPHA:353327
Galactosemia I	Increased level of galactitol in red blood cells, Galactosuria, Increased level of galactitol in ...	OMIM:230400
Fanconi-Bickel Syndrome	Increased serum bile acid concentration, Generalized aminoaciduria, Renal tubular dysfunction, Hy...	OMIM:227810
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Elevated circulating creatin...	OMIM:614376
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalciuria, Hypercalcemia, Micropenis, Hypospadias	OMIM:614732
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp...	ORPHA:439232
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:615703
Diffuse Neonatal Hemangiomatosis	Hypercalcemia, Renal hypoplasia/aplasia, Renal insufficiency	ORPHA:2123
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
Gracile Bone Dysplasia	Hypocalcemia, Failure to thrive, Micropenis	OMIM:602361
Bacterial Toxic-Shock Syndrome	Myositis, Recurrent urinary tract infections, Hypocalcemia, Elevated circulating creatine kinase ...	ORPHA:36234
Coach Syndrome 2	Elevated circulating creatinine concentration, Hyperechogenic kidneys	OMIM:619111
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia, Failure to thrive, Facial palsy, Facial paralysis	OMIM:259700
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Hypoglycemia,...	OMIM:620211
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia, Myopathy, Hypoplasia of penis	ORPHA:2323
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Ketonuria, Elevated urine acetoacetic acid level, Low plasma citrulline, Hyperalaninemia, Hypogly...	OMIM:615751
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemic seizures, Generalized aminoaciduria, Hypocalcemia, Failure to thrive, Hypophosphatemia	ORPHA:289157
Pyruvate Dehydrogenase E3 Deficiency	Decreased circulating carnitine concentration, Hyperisoleucinemia, Hyperammonemia, Elevated circu...	ORPHA:2394
Congenital Myopathy 15	Camptodactyly, Increased variability in muscle fiber diameter, Weakness of facial musculature, Fa...	OMIM:620161
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Hyperoxaluria, Nephrocalcinosis, Hypocitraturia, Nephrolithiasis	OMIM:620374
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy, Elbow flexion c...	ORPHA:1145
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Myopathy	ORPHA:33574
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Micropenis	OMIM:241410
Galactose Epimerase Deficiency	Aminoaciduria, Weight loss	ORPHA:79238
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Hypopigmentation of the skin, Elevated ...	OMIM:615980
Pseudohypoparathyroidism Type 1C	Calcinosis, Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Hypocal...	ORPHA:79444
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Ureteropelvic junction obstruction, Hydronephrosis, Renal dysplasi...	OMIM:154230
Overhydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto...	OMIM:185000
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration, Failure to thrive, Camptodactyly	OMIM:608104
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Renal tubular acidosis, Glycosuria, Failure to thrive, Nephrocalcinosis, Proteinuria, Right ventr...	OMIM:613404
Senior-Loken Syndrome 1	Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating ability, El...	OMIM:266900
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Rimmed vacuoles, Elevated circulating creatine kinase concentration, Failure to thrive, Centrally...	OMIM:619518
Griscelli Syndrome Type 1	Premature graying of hair, Hyperlipidemia, White hair, Iris hypopigmentation, Partial albinism	ORPHA:79476
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Hypoglycemia, Hyperuricemia	OMIM:261750
Hyperparathyroidism 2 With Jaw Tumors	Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin...	OMIM:145001
Congenital Myopathy 4A, Autosomal Dominant	Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal m...	OMIM:255310
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers, Elevated circulating creatine kinase concentration	OMIM:619024
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,...	OMIM:618913
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Failure to thrive...	OMIM:241200
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia, Nephrolithiasis	ORPHA:93160
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypopigmentation of hair	ORPHA:1355
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Elevated circulating creatinine concentration, Maturity-onset diabetes...	OMIM:137920
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Hypertriglyceridemia, Decreased cervical spine flexion due to con...	ORPHA:98855
Autosomal Dominant Centronuclear Myopathy	Large for gestational age, Proximal muscle weakness in upper limbs, Urinary incontinence, Calf mu...	ORPHA:169189
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:614096
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles...	OMIM:203200
Mody	Abnormality of the kidney, Large for gestational age, Neonatal hypoglycemia, Glucose intolerance,...	ORPHA:552
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613265
Relapsing Fever	Acute kidney injury, Hematuria, Elevated circulating C-reactive protein concentration, Increased ...	ORPHA:91547
Amyotrophic Lateral Sclerosis 20	Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies	OMIM:615426
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Generalized amyotrophy, Hypoglycemia, 2-ethylhydracylic aciduria	OMIM:610006
Hepatic Veno-Occlusive Disease	Increased total bilirubin, Increased body weight	ORPHA:890
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Fasting ...	ORPHA:2088
Galactokinase Deficiency	Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Increased level of ...	ORPHA:79237
Xanthinuria, Type I	Xanthinuria, Hypouricemia, Hydronephrosis, Xanthine nephrolithiasis, Hyperxanthinemia, Pyelonephr...	OMIM:278300
Hypophosphatasia, Infantile	Hypercalciuria, Elevated plasma pyrophosphate, Elevated urine pyrophosphate, Failure to thrive, N...	OMIM:241500
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo...	OMIM:193510
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair	ORPHA:177910
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Lipoma, Hypercalcemia, Renal hypophosphatemia, Chondrocal...	ORPHA:405
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria	OMIM:615026
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Glomerulopathy, Abnormality of skeletal muscle fiber size, Skeletal muscle ...	ORPHA:2348
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis...	ORPHA:232
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme...	ORPHA:33445
Ethylene Glycol Poisoning	Hyperkalemia, Renal tubular epithelial necrosis, Hematuria, Decreased urine output, Hypocalcemia,...	ORPHA:31826
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Dicarboxylic aciduria, Increased serum...	OMIM:619355
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Failure to thrive, 3-hydroxyisovaleric aciduria, Hypoglycemia, Elevated uri...	OMIM:210200
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Proximal tubulopathy, Failure to thrive, Weight loss, Aminoaciduria	OMIM:612075
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Calf muscle hypertrophy, EMG: myopathic abnormalities, Elevated circ...	OMIM:255160
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:619165
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys...	OMIM:223900
Cockayne Syndrome Type 1	Scarring, Hypermelanotic macule, Anemia, Foot joint contracture, Increased blood urea nitrogen, F...	ORPHA:90321
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration...	ORPHA:52430
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir...	ORPHA:895
Amyotrophic Lateral Sclerosis 21	Distal lower limb muscle weakness, Rimmed vacuoles, Elevated circulating creatine kinase concentr...	OMIM:606070
Cortisone Reductase Deficiency 1	Obesity, Hirsutism, Alopecia	OMIM:604931
Ullrich Congenital Muscular Dystrophy 2	Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac...	OMIM:616470
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:2786
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Few cafe-au-lait spots, Medial flaring of the eyebrow, Inguinal hernia, Hypocalcemia, Hirsutism, ...	OMIM:619503
Papillorenal Syndrome	Stage 5 chronic kidney disease, Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinu...	OMIM:120330
X-Linked Centronuclear Myopathy	Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ...	ORPHA:596
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Renal salt wasting, Hyperkalemia, Hyponatremia, Failure to thrive, Hypoglycemia	OMIM:614736
Mitochondrial Trifunctional Protein Deficiency 1	Hypoketotic hypoglycemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Hype...	OMIM:609015
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria, Elevated circulating creatine kinase concentration, Increased variability in muscl...	OMIM:255125
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	3-Methylglutaconic aciduria, Camptodactyly, Renal hypoplasia, Failure to thrive, Flexion contract...	OMIM:604273
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Obesity, Hypocalcemic t...	OMIM:103580
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Acute Adrenal Insufficiency	Renal salt wasting, Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia,...	ORPHA:95409
Fanconi Renotubular Syndrome 2	Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca...	OMIM:613388
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr...	ORPHA:276621
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Myopathy	OMIM:616816
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Hypertriglyceridemia, Decreased cervical spine flexion due to con...	ORPHA:98863
Celiac Disease, Susceptibility To, 1	Hypocalcemia, Failure to thrive, Type I diabetes mellitus, Weight loss	OMIM:212750
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Ragged-red muscle fibers, Hyperalaninemia, EMG: myopathic abnormalities, Elevated circulating cre...	OMIM:615418
Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Hypertriglyceridemia, Decreased cervical spine flexion due to con...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Hypertriglyceridemia, Decreased cervical spine flexion due to con...	ORPHA:98853
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Argininosuccinic Aciduria	Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Aminoaciduria, Hypoargininemia	ORPHA:23
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l...	OMIM:241150
Bethlem Muscular Dystrophy	Muscular dystrophy, Ankle flexion contracture, Reduced muscle collagen VI, Elbow flexion contract...	ORPHA:610
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polyuria, Nephrolithiasis, Achilles tendon calcification, Hypercalcemia, Hyperphosphatemia	OMIM:617994
Multiple Myeloma	Acute kidney injury, Abnormality of the bladder, Nephrotic syndrome, Hypercalcemia, Weight loss, ...	ORPHA:29073
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Spinal muscular atrophy, Increased variability in muscle fiber diameter, Flexion contracture, Ske...	OMIM:616867
Abcd Syndrome	Large for gestational age, Polycythemia, White eyelashes, White eyebrow, Albinism	OMIM:600501
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita, Hypospadias, ...	OMIM:619334
Pseudohypoparathyroidism Type 1A	Calcinosis, Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Hypocal...	ORPHA:79443
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalciuria, Hyperphosphaturia, Hip contracture, Nephrocalcinosis, Hypercalcemia, Hypophosphat...	OMIM:156400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Nephrocalcinosis, Hypercalcemia, Hype...	OMIM:211900
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela...	ORPHA:2885
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia, Transient hyperlipidemia, Skeletal muscle atrophy, Renal tubular acidosis	ORPHA:156
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Elev...	OMIM:258450
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia, Elevated urinary norepinephrine level, Proteinuria	OMIM:171420
Aicardi-Goutieres Syndrome 6	Increased circulating Interferon-alpha concentration	OMIM:615010
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level, Elevated circulating N,N-dimethylglycine concentratio...	OMIM:605850
Methionine Malabsorption Syndrome	Positive ferric chloride test, Aminoaciduria	OMIM:250900
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body weight, Anemia, Increased body mass index	OMIM:614450
Woolly Hair Nevus	Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat...	ORPHA:79414
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia, Hydronephrosis, Micropenis	OMIM:235255
Typical Nemaline Myopathy	Facial diplegia, Facial palsy, Elevated circulating creatine kinase concentration, Nemaline bodie...	ORPHA:171436
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye...	OMIM:278150
Waardenburg-Shah Syndrome	Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ...	ORPHA:897
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Failure ...	ORPHA:2169
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Nephrolithiasis, Elevated circulating creatine kinase concentration, Ge...	ORPHA:352447
Hypophosphatasia	Failure to thrive in infancy, Hypercalcemia	ORPHA:436
Dyskeratosis Congenita, Autosomal Dominant 1	Premature graying of hair, Aplastic anemia, Nail dystrophy, Anemia, Ridged nail, Increased mean c...	OMIM:127550
Pauci-Immune Glomerulonephritis	Acute kidney injury, Decreased glomerular filtration rate, Glomerular sclerosis, Nephrotic range ...	ORPHA:93126
Double Outlet Right Ventricle	Hypocalcemia, Failure to thrive	ORPHA:3426
Dent Disease 1	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300009
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Paroxysmal Nocturnal Hemoglobinuria	Acute kidney injury, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hyperbilirubinemia,...	ORPHA:447
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Facial diplegia, Elevated circulating creatine kinase concentration, Fail...	OMIM:612073
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Elbow flexion contracture, Abnormality of hair pigm...	OMIM:618156
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:618620
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hemolytic-uremic syndrome, Reduced haptoglobin level, Hyperechogenic kidneys, Proteinuria, Modera...	OMIM:301110
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia, Renal phosphate wasting	OMIM:612089
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem...	OMIM:104200
Marinesco-Sjogren Syndrome	Rimmed vacuoles, Elevated circulating creatine kinase concentration, Failure to thrive, Centrally...	OMIM:248800
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair	ORPHA:411515
Oculocutaneous Albinism Type 3	Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit...	ORPHA:79433
Cartilage-Hair Hypoplasia	Mucopolysacchariduria, Failure to thrive, Hypocalcemia, Aplasia/Hypoplasia of the abdominal wall ...	ORPHA:175
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Abnormal renal morphology, Hypoproteinemia, Hydronephrosis, Micropenis	ORPHA:1655
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia, Small for gestational age	OMIM:127000
Dent Disease	Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis...	ORPHA:1652
Bone Marrow Failure Syndrome 3	Aplastic anemia, Amelogenesis imperfecta, Nail dystrophy, Neutropenia, Acute myeloid leukemia, An...	OMIM:617052
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Ermine Phenotype	White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig...	OMIM:227010
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Facial palsy, Elevated circulating creatine kinase concentration, Increased e...	OMIM:602541
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Postprandial hyperglycemia, Long penis, Fasting hypoglycemia, Hyperglycemia, Di...	OMIM:262190
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Increased variability in muscle fiber diameter, Myopathy	OMIM:125250
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal number of dense granules	OMIM:614072
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane...	OMIM:277410
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli...	ORPHA:86816
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr...	ORPHA:29072
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Glomerular sclerosis, Proteinuria, Weakness of facial musculature, Elevated circulating creatinin...	ORPHA:247691
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Acute kidney injury, Hypocalcemia, Anuria, Nephrotic range proteinuria, Hyponatremi...	ORPHA:544482
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Failure to thrive in infancy, Flexion contracture	OMIM:619026
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypocalcemia, Recurrent urinary tract infections, Unconjugated hyperbilirubinemia, Failure to thr...	OMIM:613658
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia, Obesity, Red hair	OMIM:609734
Helix Syndrome	Hypermagnesemia, Hypokalemia	OMIM:617671
Lethal Congenital Contracture Syndrome 5	Elevated circulating creatine kinase concentration, Congenital contracture, Centrally nucleated s...	OMIM:615368
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Failure to thrive, Lacticaciduria	OMIM:615595
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Decreased...	ORPHA:542323
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Obesity, Absent facial hair, Low posterior hairline	ORPHA:2183
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo...	ORPHA:894
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperuricemia	OMIM:306000
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia, Facial palsy, Limb hypertonia	OMIM:259720
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Muscular dystrophy, Hyperinsulinemia, Skeletal muscle hypertrophy, Elevated...	OMIM:613327
Addison Disease	Renal salt wasting, Hyperkalemia, Hyperuricemia, Hypoglycemia, Increased circulating renin level,...	ORPHA:85138
Carnitine-Acylcarnitine Translocase Deficiency	Neonatal hypoglycemia, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration,...	OMIM:212138
Immune-Mediated Necrotizing Myopathy	Myositis, Scapular winging, EMG: myopathic abnormalities, Muscle fiber necrosis, Elevated circula...	ORPHA:206569
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperammonemia, Failure to thrive, Hyperglycemia, Hypoglycemia, Ketonuria	OMIM:615453
Late-Onset Isolated Acth Deficiency	Hyperuricemia, Hypoglycemia, Hyponatremia, Failure to thrive, Hypercalcemia, Weight loss, Type I ...	ORPHA:199299
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Acute kidney injury, Hypocalcemia, Elevated circulating creatine kinase concentrati...	ORPHA:466650
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter	OMIM:617235
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Skeletal muscle steatosis, Glycosuria, Hyperphosphaturia, Failure to thrive, Proteinuria, Aminoac...	ORPHA:436271
Cap Myopathy	Lower limb amyotrophy, Facial palsy, Increased variability in muscle fiber diameter, Generalized ...	ORPHA:171881
Glycogen Storage Disease Ia	Enlarged kidney, Decreased glomerular filtration rate, Fasting hypoglycemia, Hyperuricemia, Hyper...	OMIM:232200
Acquired Hypertrichosis Lanuginosa	Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Fine hair	ORPHA:2221
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Small for gestational age, Renal tubular acidosis, Failure to thrive, Nephrocalcinosis, Renal tub...	OMIM:208085
Congenital Myopathy 22A, Classic	Ragged-red muscle fibers, Scapular winging, Congenital finger flexion contractures, Limb muscle w...	OMIM:620351
Glycogen Storage Disease Xii	Muscle fiber splitting, Reduced haptoglobin level, Hyperbilirubinemia, Elevated circulating creat...	OMIM:611881
Goodpasture Syndrome	Glomerular crescent formation, Cylindruria, Increased blood urea nitrogen, Proteinuria, Macroscop...	OMIM:233450
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Hyperglycinemia, Methylmalonic acidemi...	OMIM:251110
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Hypercalcemia, Weight loss	ORPHA:97289
Polycystic Ovary Syndrome 1	Obesity, Hirsutism	OMIM:184700
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Decreased circulating carnitine concentration, Hyperglycinuria, Elevated urinary 7-hydroxyoctanoi...	OMIM:201450
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Anemia, Abnormal leukocyte morphology, Sparse scalp ha...	ORPHA:3322
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ...	ORPHA:2884
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Igg4-Related Kidney Disease	Acute kidney injury, Enlarged kidney, Urethritis, Renal interstitial immunoglobulin deposits, Hem...	ORPHA:449395
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Knee flexion contracture, Elbow flexion contracture, Increased variabi...	OMIM:619461
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubuloi...	ORPHA:340
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Failure to thri...	ORPHA:100
Osteopetrosis With Renal Tubular Acidosis	Renal tubular acidosis, Hypocalcemia, Nephrolithiasis, Elevated circulating creatine kinase conce...	ORPHA:2785
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Urinary incontinence, Hypotr...	OMIM:618885
Adult Acute Respiratory Distress Syndrome	Abnormality of tumor necrosis factor secretion, Abnormal circulating interleukin concentration, I...	ORPHA:70578
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Renal steatosis, Fasting hypoglycemia, Impaired gluconeogenesis, Low plasma citrulline, Hypoglyce...	OMIM:261680
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Hydroxyprolinuria	OMIM:602080
Liver Disease, Severe Congenital	Hypospadias, Hypocalcemia, Recurrent urinary tract infections, Hyperbilirubinemia, Alpha-aminobut...	OMIM:619991
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Increased variability in muscle fiber diameter, Neurogenic bladder, Type 2 muscle fiber predominance	OMIM:619173
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Glycosuria, Hyperphosphaturia, Increased intramyocellular lipid droplets, Failure to thrive, Prot...	OMIM:220110
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Obesity, Hyperlipidemia	OMIM:617885
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	3-Methylglutaconic aciduria, Abnormal renal collecting system morphology, Methylmalonic acidemia,...	ORPHA:17
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Premature graying of hair, Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly	OMIM:620367
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Abnormality of skeletal muscle fiber size, Nemaline bodies, Joint contracture, Skeletal muscle at...	OMIM:620278
Oculocutaneous Albinism Type 4	Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm...	ORPHA:79435
Morgagni-Stewart-Morel Syndrome	Obesity, Hirsutism, Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Hypokalemia, Anuria, Unconjugated hyperbilirubinemia, Hyponatremia, Hemoglob...	ORPHA:90038
Acrodysostosis 2 With Or Without Hormone Resistance	Blue irides, Obesity, Red hair, Fair hair	OMIM:614613
Monosomy 13Q34	Hypercalcemia, Insulin resistance, Obesity, Fetal pyelectasis	ORPHA:96168
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Nail dystrophy, Hirsutism, Increased body weight, Low posterior hairline, Synophrys, Abnormal hai...	OMIM:300860
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Hypokalemia, Glycosuria, Hyperphosphaturia, Renal Fanconi syndr...	ORPHA:411629
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Dicarboxylic aciduria, Increased circulating free fatty acid level, Hypoglycemia, Hypophosphatemi...	OMIM:605911
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity	OMIM:618406
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Myoglobinuria, Elevated c...	OMIM:620300
Pheochromocytoma	Elevated urinary norepinephrine level, Hypercalcemia, Renal artery stenosis, Proteinuria	OMIM:171300
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Ge...	OMIM:616866
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Infantile Myofibromatosis	Abnormality of the kidney, Hypercalcemia	ORPHA:2591
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Hyperbilirubinemia, Hydronephrosis, Micropenis	ORPHA:163979
Coenzyme Q10 Deficiency, Primary, 1	Glomerular sclerosis, Recurrent myoglobinuria, Decreased level of coenzyme Q10 in skeletal muscle...	OMIM:607426
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Greig Cephalopolysyndactyly Syndrome	Hypospadias, Camptodactyly of toe, Hyperglycemia, Abnormal muscle fiber morphology, Joint contrac...	OMIM:175700
Cranioectodermal Dysplasia 1	Hypocalcemia, Stage 1 chronic kidney disease, Chronic kidney disease, Stage 5 chronic kidney dise...	OMIM:218330
Optic Atrophy 11	Mildly elevated creatine kinase, Increased variability in muscle fiber diameter, Fiber type group...	OMIM:617302
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Cafe-au-lait spot, Increased body weight, Synophrys	ORPHA:589905
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Proximal tubulopathy,...	OMIM:229600
D-Glyceric Aciduria	Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Failure to thrive, Hyp...	OMIM:220120
Spinal Cord Injury	Urinary retention, Hypercalcemia, Urinary bladder sphincter dysfunction	ORPHA:90058
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Argininosuccinic Aciduria	Oroticaciduria, Increased circulating argininosuccinic acid, Hyperammonemia, Episodic ammonia int...	OMIM:207900
Vocal Cord And Pharyngeal Distal Myopathy	Distal upper limb amyotrophy, Rimmed vacuoles, Mildly elevated creatine kinase, Abnormality of th...	ORPHA:600
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis, Increased variability in muscl...	OMIM:607459
Craniofacioskeletal Syndrome	Hypocalcemia, Hydronephrosis, Hypospadias	OMIM:300712
Distal 16P11.2 Microdeletion Syndrome	Obesity, Low anterior hairline, Hyperuricemia	ORPHA:261222
Hennekam Syndrome	Hypocalcemia, Camptodactyly of finger, Horseshoe kidney, Ectopic kidney	ORPHA:2136
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hyperammonemia, Failure to thrive, Hydronephrosis, Conjugated hyper...	OMIM:617093
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem...	ORPHA:18
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Increased serum pyruvate, Myopathy	OMIM:604377
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Neonatal hypoglycemia, Elevated circulating creatine kinase concentration, Failure to thrive, Sma...	OMIM:619055
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen...	ORPHA:811
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Small nail, Failure to thrive, Thrombocytopenia, Umbilical her...	OMIM:614520
Classic Phenylketonuria	Hyperphenylalaninemia, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:79254
Tyrosinemia, Type Ii	Elevated urine N-acetyltyrosine level, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia	OMIM:276600
Oculopharyngodistal Myopathy 1	Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic vacuoles, EMG: myopathic abnormaliti...	OMIM:164310
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight, Hirsutism, Dorsocervical fat pad, Alopecia	OMIM:615830
Lysinuric Protein Intolerance	Oroticaciduria, Hyperammonemia, Failure to thrive, Skeletal muscle atrophy, Hyperlysinuria, Hypol...	OMIM:222700
Cholestasis, Progressive Familial Intrahepatic, 5	Hyperammonemia, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Conjugat...	OMIM:617049
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypokalemia, Hyper...	ORPHA:47159
Parathyroid Carcinoma	Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hypercalcemia, Hy...	ORPHA:143
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Aminoaciduria, Increased urinary O-linked sialo...	ORPHA:812
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ...	OMIM:231680
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Failure to thrive, Aminoaciduria	OMIM:250620
Oculocutaneous Albinism Type 1	Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash...	ORPHA:352731
Chediak-Higashi Syndrome	Neutropenia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Anemia, Hypopigmentati...	OMIM:214500
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi...	ORPHA:79432
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Renal lymphocytic tubulitis, Renal interstitial edema, Decreas...	ORPHA:91500
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration	ORPHA:85435
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Polymyositis	Abnormal renal tubule morphology, Abnormal muscle fiber morphology, Elevated circulating creatine...	ORPHA:732
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Failure to thrive, Hypopigmentation of hair	ORPHA:70472
Brittle Cornea Syndrome 1	Atypical scarring of skin, Disproportionate tall stature, Red hair, Dentinogenesis imperfecta	OMIM:229200
Gaisböck Syndrome	Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ...	ORPHA:90041
22Q11.2 Deletion Syndrome	Hypospadias, Hypocalcemia, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, ...	ORPHA:567
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia, 4-Hydroxy...	OMIM:617156
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Abnormal leukocyte morphology, Hypoproteinemia, Hypopigmentation of the ski...	ORPHA:167
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Ele...	ORPHA:653
Smith-Magenis Syndrome	Hypertriglyceridemia, Increased body weight, Hypercholesterolemia, Synophrys	OMIM:182290
Syndromic Diarrhea	Trichorrhexis nodosa, Abnormality of iron homeostasis, Hypopigmentation of hair, Brittle hair, In...	ORPHA:84064
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Aminoaciduria	ORPHA:414
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased muscle glycogen content, Weakness of facial musculature, EMG: myopathic abnormalities, ...	ORPHA:502423
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Congenital megaureter, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosi...	ORPHA:369837
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Urinary incontinence, Hypercalcemia	ORPHA:476126
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration	ORPHA:319552
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Generalized limb muscle atrophy, Abnormal circulating creatine kinase conce...	ORPHA:98908
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Elevated circulating creatine ...	OMIM:619424
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Ragged-red muscle fibers, Failure to thrive, Rhabdomyolysis, Hyperglycemia, Rec...	OMIM:124000
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
9Q31.1Q31.3 Microdeletion Syndrome	Highly arched eyebrow, Overweight, Hypercholesterolemia, Thick hair	ORPHA:401923
Histidinemia	Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia, Histidinuria	OMIM:235800
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Aminoaciduria	OMIM:249270
Primary Triglyceride Deposit Cardiomyovasculopathy	Renal artery atherosclerosis, Rimmed vacuoles, Hyperlipidemia, Elevated circulating creatine kina...	ORPHA:565612
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst	OMIM:617478
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Limb...	OMIM:157640
Macrophage Activation Syndrome	Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent...	ORPHA:158061
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret...	ORPHA:79434
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Frontal balding, Facial hirsutism, Hirsutism, Synophrys, Obesity, Thick e...	ORPHA:247768
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy, Hypoplasia of penis	ORPHA:3068
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Failure to thrive, Hypocalcemic tetany	ORPHA:83471
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hypercalcemia, Hy...	ORPHA:99880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Muscular dystrophy, Increased variability in muscle fiber diameter, Elevated circulating creatine...	OMIM:616538
Oligoarticular Juvenile Idiopathic Arthritis	Increased circulating interferon-gamma concentration, Abnormal circulating interleukin concentration	ORPHA:85410
Peroxisome Biogenesis Disorder 2A (Zellweger)	Polycystic kidney dysplasia, Elevated circulating long chain fatty acid concentration, Camptodact...	OMIM:214110
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Glomerular...	OMIM:276700
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Increased C-peptide level, Decreased circulating free fatty acid level	ORPHA:79644
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Increased body weight, Hypophosphatemic rickets, Abnormal circulating ...	ORPHA:263455
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair	ORPHA:411511
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Anemia, Increased body weight, Abnormal erythrocyte enzyme concentration or...	ORPHA:264580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight	ORPHA:276608
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Thrombocytopenia, Increased mean corpuscular volume, Abnormal hair pattern	ORPHA:261250
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy, Elevated circulating creatine ...	OMIM:617675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Muscular dystrophy, Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentrati...	OMIM:613150
Wilson Disease	Anemia, Increased body weight, Failure to thrive, Thrombocytopenia, Splenomegaly, Weight loss	ORPHA:905
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Hirsutism, Hyperlipidemia, Dorsocervical fat pad, Abdominal obesity, Alopecia	ORPHA:189427
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:3440
Glycerol Kinase Deficiency	Hypertriglyceridemia, Muscular dystrophy, Hyperglycerolemia, Increased urinary glycerol, Small fo...	OMIM:307030
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Hirsutism, ...	ORPHA:2298
Dermotrichic Syndrome	Aminoaciduria	ORPHA:99688
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cafe-au-lait spot, Hypopigmentation of the skin, Splenomegaly, Hypopigmentation of hair	OMIM:618541
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Abdominal obesity...	OMIM:615812
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme...	ORPHA:999
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Lethal Congenital Contracture Syndrome 9	Abnormality of the diaphragm, Wrist flexion contracture, Congenital contracture, Arthrogryposis m...	OMIM:616503
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Anemia, Increased body weight, Elevated circulating creatine kinase concent...	ORPHA:79240
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Increased glucagon level, Hypercalcemia, Weight loss	ORPHA:913
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin...	ORPHA:79431
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia, Small for gestational age	ORPHA:254534
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Cardiogenic Shock	Oliguria, Elevated circulating creatinine concentration	ORPHA:97292
Marburg Hemorrhagic Fever	Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hypoglycemia, H...	ORPHA:99826
Adrenocortical Carcinoma	Hypokalemia, Increased body weight, Weight loss, Hypertrichosis	ORPHA:1501
Histidinemia	Hyperhistidinemia, Histidinuria	ORPHA:2157
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612562
Wilson Disease	Increased urinary copper concentration, Decreased circulating ceruloplasmin concentration, Hyperc...	OMIM:277900
Digeorge Syndrome	Unilateral renal agenesis, Hypocalcemia, Obesity, Hydronephrosis, Renal dysplasia, Renal insuffic...	OMIM:188400
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F...	OMIM:203300
Johanson-Blizzard Syndrome	Hypospadias, Hypocalcemia, Increased VLDL cholesterol concentration, Failure to thrive, Urethrova...	OMIM:243800
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment...	OMIM:203100
Vitamin D-Dependent Rickets, Type 2A	Failure to thrive, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Multiple Endocrine Neoplasia Type 4	Hyperinsulinemic hypoglycemia, Increased glucagon level, Hypercalcemia, Increased urinary cortiso...	ORPHA:276152
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor...	ORPHA:238468
Native American Myopathy	Abnormality of skeletal muscle fiber size, Camptodactyly, Congenital contracture, Muscle fiber at...	ORPHA:168572
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration	ORPHA:363558
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Hypercalcemia	OMIM:131100
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased body weight, Small for gestational age	OMIM:274300
Pituitary Adenoma 4, Acth-Secreting	Abdominal obesity, Obesity, Hirsutism, Hypokalemia	OMIM:219090
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf...	ORPHA:3214
Muenke Syndrome	Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair	ORPHA:53271
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair	ORPHA:98794
Glycogen Storage Disease Ic	Hematuria, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemia, Focal segmental g...	OMIM:232240
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter	ORPHA:70595
Hereditary Orotic Aciduria	Orotic acid crystalluria, Oroticaciduria, Aminoaciduria, Abnormality of the ureter	ORPHA:30
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Carney Complex, Type 1	Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling	OMIM:160980
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Hydronephrosis	OMIM:620330
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interferon-gamma concentration, Abnormal circulating interleukin concentrati...	ORPHA:79124
Fibrous Dysplasia Of Bone	Diabetes mellitus, Hypercalcemia, Hypophosphatemia	ORPHA:249
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Hypercholesterolemia, Increased LDL cholesterol concentration	ORPHA:209902
Vici Syndrome	Neutropenia, Hypopigmentation of hair, Hypopigmentation of the skin, Elevated circulating creatin...	OMIM:242840
Vipoma	Diabetes mellitus, Hypercalcemia, Weight loss, Hypokalemia	ORPHA:97282
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Abnormal circulating interleukin concentration	ORPHA:158057
Hermansky-Pudlak Syndrome	Neutropenia, Hypopigmentation of hair, Abnormal dental enamel morphology, Hypopigmentation of the...	ORPHA:79430
Charge Syndrome	Hypocalcemia, Facial palsy, Renal agenesis, Renal hypoplasia, Hydronephrosis, Micropenis, Horsesh...	OMIM:214800
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration	ORPHA:101096
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Elevated circulating long chain fatty acid concentration, Failure to thrive, Renal c...	OMIM:214100
Interstitial Lung And Liver Disease	Hyperammonemia, Failure to thrive, Aminoaciduria	OMIM:615486
Fumarase Deficiency	Bilateral fetal pyelectasis, Hyperbilirubinemia, Failure to thrive, Elevated urine fumaric acid l...	OMIM:606812
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Nephrocalcinosis, Multiple renal c...	ORPHA:904
Williams-Beuren Syndrome	Glucose intolerance, Renal insufficiency, Hypercalciuria, Abnormal renal morphology, Recurrent ur...	OMIM:194050
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:93325
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Hypercholesterolemia, Elevated circulating crea...	OMIM:309000
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria	OMIM:273400
Somatostatinoma	Diabetes mellitus, Hypercalcemia, Weight loss	ORPHA:97283
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Failure to thrive, Obesity, Abdominal obe...	ORPHA:398079
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight	OMIM:615954
Yellow Fever	Acute kidney injury, Hyperbilirubinemia, Anuria, Elevated circulating creatine kinase concentrati...	ORPHA:99829
Combined Oxidative Phosphorylation Deficiency 14	Elevated hepatic iron concentration, Aminoaciduria	OMIM:614946
Sotos Syndrome	Tall stature, High anterior hairline, Small nail, Increased body weight, Overgrowth, Sparse eyebrow	OMIM:117550
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration	ORPHA:69665
Autoimmune Lymphoproliferative Syndrome	Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Incr...	ORPHA:3261
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Macroglossia, Torticollis	OMIM:617022
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Increased body weight, Hypopigmentation of the skin, Failure to thrive,...	ORPHA:398069
Dysbetalipoproteinemia	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	ORPHA:412
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Degcags Syndrome	Premature graying of hair, Hypopigmentation of the skin, Abnormal spleen morphology, Low posterio...	OMIM:619488
Brittle Cornea Syndrome	Hernia, Abnormality of hair pigmentation, Corneal scarring, Camptodactyly	ORPHA:90354
Glucagonoma	Diabetes mellitus, Hypercalcemia, Weight loss	ORPHA:97280
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Inguinal hernia, Hypopigmentation of hair, Iris hypopigmentation, Ocular albinism	ORPHA:2719
Hellp Syndrome	Decreased mean corpuscular hemoglobin concentration, Increased body weight, Thrombocytopenia, Mic...	ORPHA:244242
Biliary, Renal, Neurologic, And Skeletal Syndrome	Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype...	OMIM:619534
Aromatase Deficiency	Tall stature, Hyperlipidemia, Eunuchoid habitus, Obesity, Generalized hirsutism	ORPHA:91
Ppoma	Hypercalcemia, Weight loss	ORPHA:97278
Sarcoidosis	Hypercalciuria, Facial palsy, Nephrolithiasis, Nephrocalcinosis, Hypercalcemia, Weight loss, Rena...	ORPHA:797
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Generalized hypopigmentation, Leukocytosis, Flexion contracture, Abdominal obesity, Alo...	OMIM:619321
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Failure to thrive, Iris hypopigmentation,...	ORPHA:98754
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Abnormality of hair texture, Hypopigmentation of hair	ORPHA:96169
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Failure to thrive, Iris hypopigmentation,...	ORPHA:98793
Insulinoma	Increased body weight	ORPHA:97279
Sweet Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:3243
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Hypopigmentation of the skin, Failure to thrive, Iris hypopigmentation,...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Hypopigmentation of the skin, Failure to thrive, Iris hypopigmentation,...	ORPHA:177901
Oculocerebrorenal Syndrome Of Lowe	Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Hypercholesterolemia, Hypokalemia, H...	ORPHA:534
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:163746
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Grfoma	Hypercalcemia, Weight loss	ORPHA:97261
Multiple Endocrine Neoplasia Type 1	Hypercalciuria, Hypercalcemia, Nephrolithiasis, Weight loss	ORPHA:652
Sotos Syndrome	Abnormality of the kidney, Ankle flexion contracture, Ureteral duplication, Neonatal hypoglycemia...	ORPHA:821
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hypochromic microcytic anemia, Iro...	ORPHA:97214
Cushing Disease	Hyperpigmentation of the skin, Increased body weight, Hirsutism, Sparse scalp hair, Lymphopenia, ...	ORPHA:96253
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s...	ORPHA:177907
Prader-Willi Syndrome	Failure to thrive, Hypopigmentation of the skin, Hypopigmentation of hair, Abdominal obesity	ORPHA:739
Menkes Disease	Hypopigmentation of hair, Inguinal hernia, Woolly hair, Sparse hair, Umbilical hernia, Atypical s...	ORPHA:565
Alkaptonuria	Nephrolithiasis, Thickened Achilles tendon, Tendon rupture, Dark urine, Elevated urinary homogent...	ORPHA:56
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria	OMIM:616084
Autosomal Recessive Faciodigitogenital Syndrome	Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak	ORPHA:1974
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Hypopigmentation of hair, Abnormal dental enamel morphology, Abn...	ORPHA:818
Cushing Syndrome Due To Ectopic Acth Secretion	Hyperpigmentation of the skin, Increased body weight, Hirsutism, Sparse scalp hair, Lymphopenia, ...	ORPHA:99889
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures	OMIM:612301
Kanzaki Disease	Aminoaciduria, Increased urinary O-linked sialopeptides	OMIM:609242
X-Linked Intellectual Disability, Armfield Type	Organic aciduria, Aminoaciduria, Galactosuria	ORPHA:85276
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Abnormal circulating interferon-gamma concentration	ORPHA:391487
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Hydronephrosis, Decreased body weight, Arthrogryposis multiplex congenita, Vesicoureteral reflux	OMIM:618265
Carney Complex	Ductal carcinoma in situ, Multiple lentigines, Tall stature, Hirsutism, Increased body weight, Mu...	ORPHA:1359
Non-Specific Early-Onset Epileptic Encephalopathy	Failure to thrive, Limb hypertonia	ORPHA:442835
Developmental And Epileptic Encephalopathy 91		OMIM:617711

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ppp3ca

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ppp3ca.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ppp3ca^{tm2e(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ppp3ca^{tm2a(EUCOMM)Wtsi}	PMC6459510
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.	Nature communications (April 2014)	Ppp3ca^{tm2e(EUCOMM)Wtsi}	PMC3996542
Robust and sensitive analysis of mouse knockout phenotypes.	PloS one (December 2012)	Ppp3ca^{tm2e(EUCOMM)Wtsi}	PMC3530558

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ppp3ca^{tm42411(L1L2_Pgk_PM)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ppp3ca^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ppp3ca^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ppp3ca^{tm42411(L1L2_st1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ppp3ca^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ppp3ca^{tm3e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ppp3ca^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	Mice, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us