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Gene: Pdss2 MGI:1918615

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Gene Summary

Name:
prenyl (solanesyl) diphosphate synthase, subunit 2
Synonyms:
PLMP,  5430420P03Rik,  kd,  mDLP1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Pdss2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased thigmotaxis Pdss2tm1b(EUCOMM)Hmgu HET   Early adult 6.10×10-06
embryonic lethality prior to organogenesis Pdss2tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
thrombocytopenia Pdss2tm1b(EUCOMM)Hmgu HET Early adult 5.28×10-06
increased total body fat amount Pdss2tm1b(EUCOMM)Hmgu HET   Early adult 1.09×10-05
abnormal tooth morphology Pdss2tm1b(EUCOMM)Hmgu HET Early adult 8.78×10-09
vertebral fusion Pdss2tm1b(EUCOMM)Hmgu HET Early adult 2.02×10-06
embryonic lethality prior to tooth bud stage Pdss2tm1b(EUCOMM)Hmgu HOM   E12.5 0.00
decreased anxiety-related response Pdss2tm1b(EUCOMM)Hmgu HET   Early adult 7.39×10-05
increased circulating bilirubin level Pdss2tm1b(EUCOMM)Hmgu HET   Early adult 7.76×10-05

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 50% (1 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 50% (1 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

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

Echo

M-Mode Images

32 Images

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Adult LacZ

LacZ Images Wholemount

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Embryo LacZ

LacZ images wholemount

3 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

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Human diseases caused by Pdss2 mutations

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

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

The table below shows human diseases associated to Pdss2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Heavy prote... ORPHA:255249

The table below shows human diseases predicted to be associated to Pdss2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... OMIM:619263
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... OMIM:310468
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis OMIM:614196
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Nephrotic Syndrome, Type 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... OMIM:256370
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:615573
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Anterior uveitis, Reversible renal failure, Uveitis, Glomerulonephritis, Acute tubulo... OMIM:607665
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, Tubulointerstiti... OMIM:615862
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect OMIM:238710
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Proteinuria, Stage 5 chron... OMIM:614817
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Myoglobinuria, Elevated circulating creatine kinase concentration, Red-brow... ORPHA:228302
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Gout, Tubulointerstitial nephritis, Multiple small m... OMIM:603860
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... OMIM:618349
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Renal Hypoplasia
Chronic kidney disease, Polydipsia, Small for gestational age, Unilateral renal agenesis, Abnorma... ORPHA:93101
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... OMIM:619155
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Foot dorsiflexor weakness, Focal segmental glomerulosclerosis, Proteinuria, Distal upper limb amy... OMIM:614455
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies OMIM:614164
Carnitine Palmitoyltransferase Ii Deficiency
Myoglobinuria, Cystic renal dysplasia, Elevated circulating creatine kinase concentration, Red-br... ORPHA:157
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Myopathy Due To Malate-Aspartate Shuttle Defect
Elevated circulating creatine kinase concentration, Red urine, Myopathy OMIM:254960
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Senior-Loken Syndrome 4
Polyuria, Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Dark urine, Recurrent myoglobinuria, Increased m... ORPHA:368
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Organic aciduria, Fatty replacement of skelet... OMIM:255100
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, B... OMIM:619468
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy OMIM:617056
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Hypercholanemia, Familial, 2
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:615993
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, U-Shaped upper lip vermilion, Accelerated skeletal maturation OMIM:129850
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Chronic kidney disease, Nephropathy OMIM:602114
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... OMIM:618594
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis OMIM:617731
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Nephritis, Mesangial hypercellularity, Thickenin... ORPHA:63
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Malaria
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Oligomeganephronia
Polydipsia, Congenital diaphragmatic hernia, Decreased glomerular filtration rate, Small for gest... ORPHA:2260
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... OMIM:263200
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp... OMIM:237800
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Self-injurious behavior, Lumbar hyperlordosis, Butterfly vertebrae, Hyperplasia of... ORPHA:313892
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... OMIM:617730
Glycogen Storage Disease V
Dark urine, Myoglobinuria, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase ... OMIM:232600
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Anemia, Thromb... ORPHA:3319
Senior-Loken Syndrome 9
Obesity, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease OMIM:616629
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Sjogren Syndrome
Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... ORPHA:85450
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... ORPHA:656
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Limb hypertonia, Hyperechogenic kidneys, Tubulointerstitial nephr... OMIM:617595
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Renal Glucosuria
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna OMIM:233100
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Glomerulonephritis, Stage 5 ... OMIM:614376
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Elevated circulating creatine kinase concentration, Decreased plasma total carniti... ORPHA:228305
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffic... OMIM:256300
Central Diabetes Insipidus
Failure to thrive, Weight loss, Nocturia, Polydipsia ORPHA:178029
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease OMIM:618913
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Radioulnar synostosis ORPHA:71289
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Myoglobinuria, Cystic renal dysplasia, Elevated circulating creatine kinase concentration, Red-br... ORPHA:228308
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria, Skeletal muscle atrophy, Elevated circulating creatine kin... ORPHA:98895
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Cystinosis
Renal tubular dysfunction, Failure to thrive, Polydipsia, Aminoaciduria, Nephropathy, Proteinuria... ORPHA:213
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Peritonitis, Abnormal glomerular visceral epi... ORPHA:567548
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... OMIM:601894
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease OMIM:161900
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... ORPHA:2064
Ochoa Syndrome
Polydipsia, Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obs... ORPHA:2704
Apparent Mineralocorticoid Excess
Failure to thrive, Polydipsia, Left ventricular hypertrophy, Abnormal urine sodium concentration,... ORPHA:320
Type 1 Diabetes Mellitus
Polyphagia, Polyuria, Polydipsia OMIM:222100
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Type 2 muscle fiber atrophy, Myositis, Lower limb muscle wea... ORPHA:99845
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration, Splen... OMIM:620010
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused thoracic vertebrae, Cleft palate, Short neck, Scoliosis, Fused cervica... OMIM:618469
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... OMIM:277300
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Joint hypermobility, Generalized hypoplasia of denta... ORPHA:49042
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Decreased body weight, Nephrotic syndrome, Proteinuria OMIM:618347
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Hereditary Coproporphyria
Dark urine, Proximal muscle weakness in lower limbs, Increased urinary porphobilinogen, Elevated ... ORPHA:79273
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Heavy prote... ORPHA:255249
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Non-acidotic pro... ORPHA:1652
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... ORPHA:567544
Blue Diaper Syndrome
Increased body weight, Nephrocalcinosis, Blue urine ORPHA:94086
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Failure to thrive, Renal tubular ... OMIM:248250
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Multiple Synostoses Syndrome 2
Carpal synostosis, Vertebral fusion, Proximal symphalangism, Tarsal synostosis, Humeroradial syno... OMIM:610017
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Skin rash, Endocarditis, Myositis, Hematuria, Myocarditis, Arthritis, Tubulointerstiti... ORPHA:183
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Micrognathia, Vertebral fusion, Cleft palate OMIM:221950
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Galactosemia I
Increased level of galactitol in urine, Failure to thrive, Aminoaciduria, Galactosuria, Albuminuria OMIM:230400
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Lacticaciduria, Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, He... OMIM:616307
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Decreased level of coenzyme Q10 in skeletal muscle, ... OMIM:607426
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Nephrolithiasis, Weakness of facial musculature, Elevated circulating creatine kinase concentrati... ORPHA:352447
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Decreased activity of mitochondrial ATP synthase complex, Aminoaciduria, EMG: my... OMIM:609560
Bardet-Biedl Syndrome 17
Polydipsia, Micropenis, Polyuria, Renal cyst, Obesity, Stage 5 chronic kidney disease OMIM:615994
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Myoglobinuria, Rhabdomyolysis, Renal insuffic... OMIM:261670
Myopathy With Lactic Acidosis, Hereditary
Abnormal iron deposition in mitochondria, Myoglobinuria, Elevated circulating creatine kinase con... OMIM:255125
Scapuloperoneal Myopathy, X-Linked Dominant
Flexion contracture, Elevated circulating creatine kinase concentration, Scapuloperoneal myopathy... OMIM:300695
Pauci-Immune Glomerulonephritis
Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hema... ORPHA:93126
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
East Syndrome
Polydipsia, Salt craving, Lower limb muscle weakness, Renal magnesium wasting, Increased circulat... ORPHA:199343
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentratio... OMIM:609115
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d... OMIM:602522
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Weakness of orb... OMIM:500002
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Bardet-Biedl Syndrome 9
Polydipsia, Truncal obesity, Polyphagia, Renal insufficiency, Obesity OMIM:615986
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Mildly elevated cre... ORPHA:603
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:618348
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polyuria, Hydronephrosis, Polydipsia OMIM:304900
Frasier Syndrome
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... ORPHA:347
Senior-Loken Syndrome 3
Polydipsia, Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic k... OMIM:606995
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Hypodontia, Cleft palate, Hemivertebrae, Macrodontia, Sco... ORPHA:2916
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... ORPHA:488627
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy ORPHA:3033
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Flexion contracture, Facial palsy, Ethylmalonic aciduria, Myopathy OMIM:201470
Nephronophthisis 11
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disinteg... OMIM:613550
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria, Myopathy ORPHA:79087
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis OMIM:249660
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomer... OMIM:617006
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... ORPHA:449395
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology OMIM:618378
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Irregular vertebral endplates, Advanced ossification of carpal bones, Tooth agenesis... OMIM:618363
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Carnitine Deficiency, Myopathic
Decreased plasma carnitine, Reduced muscle carnitine level, Myopathy OMIM:212160
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Sickle Cell Anemia
Avascular necrosis, Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic a... ORPHA:232
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Multiple joint contractures, Elevated creatine kinase after exercise, Limb-girdle ... ORPHA:352470
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Nephrogenic Diabetes Insipidus
Failure to thrive, Polydipsia, Hydroureter, Hyposthenuria, Functional abnormality of the bladder,... ORPHA:223
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Pancreatitis, Methylmalonic aciduria, Tubulointerstitial nephritis, Stage 5 ch... OMIM:251000
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis OMIM:232500
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Pustule, Skin rash, Interstitial pneumonitis, Myocarditis, Tubulointerstitial... ORPHA:139402
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... OMIM:113000
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Bethlem Myopathy 1
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elevated circulating creatine ... OMIM:158810
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Proximal muscle weakness in lower limbs, Weakness of facial muscu... ORPHA:457050
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis OMIM:619428
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Cleft palate, Craniosyn... OMIM:178110
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Combined Oxidative Phosphorylation Deficiency 46
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I OMIM:618952
Hypophosphatasia, Childhood
Phosphoethanolaminuria, Elevated urine pyrophosphate, Myopathy OMIM:241510
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ... OMIM:162000
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Mildly elevated creatine kinase, Faci... OMIM:617030
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Tubulointerstitial nephritis OMIM:614582
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... OMIM:617575
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Failure to thrive, Ethylmalonic aciduria, Myopathy ORPHA:26792
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal in... OMIM:619902
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Polycystic ... OMIM:608709
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology, Urinary urgency, Lower limb muscle weakness, Ragged-red muscle... ORPHA:99013
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Distal Renal Tubular Acidosis
Nephrolithiasis, Failure to thrive, Polydipsia, Aminoaciduria, Decreased glomerular filtration ra... ORPHA:18
Acquired Central Diabetes Insipidus
Weight loss, Pollakisuria, Polydipsia ORPHA:95626
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
Combined Oxidative Phosphorylation Deficiency 24
Elevated circulating creatine kinase concentration, Focal segmental glomerulosclerosis, Facial pa... OMIM:616239
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... OMIM:601775
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Flexion contracture, Micropenis, Hypospadias, Spinal muscular atroph... OMIM:301830
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Polyuria, Megacystis, Polydipsia OMIM:125800
Myopathy, Distal, 4
Abnormality of the calf musculature, Mildly elevated creatine kinase, Distal upper limb amyotroph... OMIM:614065
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Polyuria, Megacystis, Polydipsia OMIM:304800
Senior-Boichis Syndrome
Renal atrophy, Chronic kidney disease, Polydipsia, Reduced renal corticomedullary differentiation... ORPHA:84081
Klhl9-Related Early-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Abnormality of the calf musculatu... ORPHA:399081
Pyle Disease
Reduced bone mineral density, Platyspondyly, Scoliosis, Delayed eruption of teeth, Limited elbow ... OMIM:265900
Harderoporphyria
Increased urinary porphobilinogen, Red urine, Increased urine harderoporphyrin level OMIM:618892
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Ac... ORPHA:54370
Cystinosis, Nephropathic
Polydipsia, Glycosuria, Hematuria, Proteinuria, Weight loss, Skeletal muscle atrophy, Failure to ... OMIM:219800
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Pediatric Systemic Lupus Erythematosus
Dark urine, Discoid lupus rash, Nephrotic syndrome, Nephritis, Skin rash, Abnormality of the urin... ORPHA:93552
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Aarskog-Scott Syndrome
Cleft upper lip, Genu recurvatum, Cleft palate, Everted lower lip vermilion, Abnormal vertebral s... ORPHA:915
Lymphedema-Distichiasis Syndrome
Recurrent skin infections, Recurrent urinary tract infections, Renal duplication, Tubulointerstit... ORPHA:33001
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Block vertebrae, Abnormality ... OMIM:613686
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Multiple lipomas ORPHA:529
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Macroglossia, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordo... OMIM:606612
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy OMIM:181430
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Elevated circulati... ORPHA:611
Wt Limb-Blood Syndrome
Hypoplastic anemia, Retrognathia, Micrognathia, Joint contracture of the 5th finger, Radioulnar s... OMIM:194350
Congenital Disorder Of Glycosylation, Type Iik
Kyphoscoliosis, Malar flattening, Elevated circulating creatine kinase concentration, Osteoporosi... OMIM:614727
Folate Malabsorption, Hereditary
Irritability, Leukopenia, Oral ulcer, Neutropenia, Thrombocytopenia, Folate-responsive megaloblas... OMIM:229050
Kbg Syndrome
Delayed skeletal maturation, Cleft palate, Vertebral fusion, Oligodontia, Short neck, Macrodontia... ORPHA:2332
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Aminoaciduria, Cachexia, Decreased activity of mitochondrial complex IV, Proxi... OMIM:612075
Gne Myopathy
Mildly elevated creatine kinase, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variabi... ORPHA:602
Aicardi-Goutieres Syndrome 9
Failure to thrive, Micropenis, Left ventricular hypertrophy, Recurrent urinary tract infections, ... OMIM:619487
Gitelman Syndrome
Failure to thrive, Polydipsia, Polyuria, Hypocalciuria, Nocturia, Salt craving, Increased circula... OMIM:263800
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Thin glomer... OMIM:615244
Hemolytic Anemia, Congenital, X-Linked
Dark urine OMIM:301015
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... OMIM:613496
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... OMIM:608099
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Hemolytic anemia, Increased total... OMIM:232800
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Failure to thrive, Renal cyst, Giant cell hepatitis ORPHA:79303
Florid Cemento-Osseous Dysplasia
Avascular necrosis, Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abno... ORPHA:83451
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Dysphagia, Skeletal muscle atrophy, Myopathy,... OMIM:182920
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Thyroiditis, Nephrotic syndrome, Gastritis, Eczematoid dermatitis, Colitis, Osteomyelitis, Inflam... ORPHA:37042
Porphyria
Abnormal urinary color, Dupuytren contracture ORPHA:738
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Distal amyotrophy, Ach... OMIM:609200
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Dens in dente, Kyphoscoliosis, Hypoplastic vertebral bodies, Hypodontia, H... OMIM:263540
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Camptodactyly ORPHA:459061
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Polydipsia, Polyuria, Hypocalciuria, Salt craving, Increased circulating renin level, Renal sodiu... OMIM:612780
Sengers Syndrome
3-Methylglutaconic aciduria, Myopathy OMIM:212350
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Myopathy ORPHA:2571
Keratoconus Posticus Circumscriptus
Cleft upper lip, Cleft palate, Abnormal vertebral segmentation and fusion, Short neck, Limited el... OMIM:244600
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Failure to thrive, Aminoaciduria, Rhabdomyolysis, Ragged-red muscle fibers, Tubulointerstitial ne... OMIM:124000
Lead Poisoning
Renal tubular dysfunction, Chronic kidney disease, Skin rash, Small for gestational age, Oligospe... ORPHA:330015
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Hartnup Disease
Abnormal urinary color, Neutral hyperaminoaciduria, Infectious encephalitis, Skin rash ORPHA:2116
Dubin-Johnson Syndrome
Abnormal urinary color ORPHA:234
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Elevated circulating creatine kinase concentration... OMIM:605820
Hyperbiliverdinemia
Green urine OMIM:614156
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Weight loss, Proteinuria, Elevated urinary epinephrine, Ele... ORPHA:276621
Distal Xq28 Microduplication Syndrome
High palate, Neonatal hyperbilirubinemia, Impulsivity, Depression, Anxiety, Self-biting, Short li... ORPHA:293939
Denys-Drash Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Nephropathy, Focal segmental glo... OMIM:194080
Al Amyloidosis
Nephrotic syndrome, Macroglossia, Renal interstitial amyloid deposits, Abnormality of the kidney,... ORPHA:85443
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Decreased activity of mitochondrial respiratory chain, Myopathy OMIM:613076
Systemic Sclerosis
Chronic kidney disease, Osteomyelitis, Flexion contracture, Recurrent skin infections, Abnormalit... ORPHA:90291
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Verheij Syndrome
Hemivertebrae, Vertebral fusion, Short neck, Long philtrum, Scoliosis, Hip dislocation, Thin uppe... OMIM:615583
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612653
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Skin rash ORPHA:90036
Arima Syndrome
Occipital meningocele, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Poly... OMIM:243910
Proximal Renal Tubular Acidosis
Nephrolithiasis, Failure to thrive, Polydipsia, Aminoaciduria, Hyperuricosuria, Glycosuria, Globa... ORPHA:47159
Hereditary Xanthinuria
Crystalluria, Rheumatoid arthritis, Recurrent urinary tract infections, Xanthinuria, Hematuria, G... ORPHA:3467
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease OMIM:619603
Cold Agglutinin Disease
Abnormal urinary color ORPHA:56425
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Macroscopic hematuria, Focal segmental glomerulosclerosis, Microscopic he... ORPHA:567546
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Asymmetric Short Stature Syndrome
Dental crowding, Micrognathia, Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Polydipsia, Aminoaciduria, Polyuria, Hypercalciuria, Calcinosis, Hyperphosphat... OMIM:239200
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Cervical C2/C3 vertebral fusion, Cleft palate, Short neck, Scoliosis, Fused cerv... OMIM:214300
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:90037
Otopalatodigital Syndrome Type 1
Anodontia, Increased bone mineral density, Cleft palate, Abnormal vertebral segmentation and fusi... ORPHA:90650
Autoimmune Hemolytic Anemia
Abnormal urinary color ORPHA:98375
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Increased urinary porphobilinogen, Limb muscle weakness, Purple urine ORPHA:100924
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Gingival bleeding, Poikilocy... ORPHA:98870
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... ORPHA:3202
Gitelman Syndrome
Failure to thrive, Polydipsia, Renal tubular acidosis, Salt craving, Nocturia, Gout, Focal segmen... ORPHA:358
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Persistence of primary teeth, Diaph... OMIM:259710
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Myopathy, Myofibrillar, 5
Elevated circulating creatine kinase concentration, Myofibrillar myopathy, Muscle fiber splitting... OMIM:609524
Aapoaiv Amyloidosis
Chronic kidney disease, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, P... ORPHA:439232
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Xanthinuria, Type I
Xanthinuria, Hydronephrosis, Myopathy, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Flexion contracture, Arthropathy, Irritability OMIM:612952
Alstrom Syndrome
Chronic active hepatitis, Nephritis, Otitis media, Truncal obesity, Tubulointerstitial nephritis,... OMIM:203800
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Nemaline Myopathy 2
Weakness of facial musculature, Increased variability in muscle fiber diameter, Fatty replacement... OMIM:256030
Axial Osteomalacia
Renal cyst, Elevated circulating creatine kinase concentration, Myopathy OMIM:109130
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:609456
Peroxisome Biogenesis Disorder 1A (Zellweger)
Failure to thrive, Aminoaciduria, Macroglossia, Hypospadias, Dysphagia, Hydronephrosis, Renal cor... OMIM:214100
Myopathy, Distal, With Anterior Tibial Onset
Elevated circulating creatine kinase concentration, Myopathy, Distal amyotrophy OMIM:606768
Graft Versus Host Disease
Hyperbilirubinemia, Dupuytren contracture, Hemophagocytosis, Stiff interphalangeal joints, Hepato... ORPHA:39812
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Cleft palate, Abnormal vertebral segmentation and fusion, Abnorm... ORPHA:2345
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:30925
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Short neck, Cleft palate, Absent or minimally ossifie... ORPHA:66637
Isolated Polycystic Liver Disease
Increased total bilirubin, Back pain ORPHA:2924
Teratoma, Pineal
Polyuria, Polydipsia OMIM:273120
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Vertebral fusion OMIM:122600
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myopathy OMIM:609500
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
High palate, Cervical C2/C3 vertebral fusion, Flexion contracture, Everted lower lip vermilion, M... OMIM:616549
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Failure to thrive, Chronic kidney disease, Polydipsia, Aminoaciduria, Gl... ORPHA:411634
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Elevated circulating creatine kinase concentration, Decreased plasma total carnitine, D... ORPHA:42
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Polyuria, Hypercalciuria, Polydipsia OMIM:613677
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Renal hypoplasia OMIM:228940
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Dent Disease 2
Chronic kidney disease, Aminoaciduria, Elevated circulating creatine kinase concentration, Low-mo... OMIM:300555
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Limited pronation/supination of forearm, Cleft palate, Congenital thrombocytopenia, Radioulnar sy... OMIM:616738
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Anxiety, Autoimmune thrombocytopenia, Oral ulcer, Thrombocytopenia OMIM:301080
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... OMIM:613204
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle fiber atrophy, Elevated creatine kinase after exercise, EMG: myopathic abnormalities, Myog... ORPHA:57
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Adult-Onset Nemaline Myopathy
Nemaline bodies, Neuromuscular dysphagia, Flexion contracture, EMG: myopathic abnormalities, Incr... ORPHA:171442
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Gorlin Syndrome
Hemivertebrae, Vertebral fusion, Scoliosis, Carious teeth, Mandibular prognathia, Vertebral wedging ORPHA:377
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... OMIM:109270
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Polydipsia, Hypercalciuria ORPHA:251274
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Abnormal urinary odor, Dysphagia, Macroglossia ORPHA:412217
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Multiple pterygia, Joint dislocation, Flexion contracture, Cleft palate, Microgn... OMIM:312150
Idiopathic Congenital Hypothyroidism
Macroglossia, Delayed proximal femoral epiphyseal ossification, Delayed cranial suture closure, U... ORPHA:95717
Lysinuric Protein Intolerance
Argininuria, Failure to thrive, Oroticaciduria, Pancreatitis, Oral aversion, Decreased glomerular... ORPHA:470
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Failure to thrive, Polydipsia, Aminoaciduria, Glycosuria, Low-molecula... ORPHA:411629
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Renal agenesis, Hypospadias, Multicystic kidney dysplasia, Arthritis, Renal Fanconi s... ORPHA:93111
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic anemia, Reticulocyt... OMIM:235700
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, ... OMIM:616278
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Slender build, Neuromuscular dysphagia, Flexion contracture, EM... ORPHA:171439
Congenital Disorder Of Glycosylation, Type Iid
Elevated circulating creatine kinase concentration, Myopathy OMIM:607091
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... ORPHA:266
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, G... ORPHA:84090
Parathyroid Carcinoma
Nephrolithiasis, Polydipsia, Pancreatitis, Nephroblastoma, Hypercalciuria, Renal cyst, Renal insu... ORPHA:143
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Polydipsia ORPHA:369929
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Nephrotic syndrome, Elevated circulating creatine kinase concentrat... OMIM:617713
Acute Intermittent Porphyria
Dark urine, Dysuria, Pseudobulbar paralysis, Proximal muscle weakness in lower limbs, Urinary inc... ORPHA:79276
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Elevated circulating creatine kinase concentration, Muscle fiber splitting, Scapular winging, Myo... OMIM:618129
Spherocytosis, Type 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:182900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Spl... OMIM:616860
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia, Abnormality of the gingiva ORPHA:517
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia of the bladder, Flexion contracture, Ureterocele, Muscular dystrophy, Abnormality of the ... ORPHA:158684
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelvic girdle muscle wea... OMIM:167320
Multiminicore Myopathy
Failure to thrive, Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Min... ORPHA:598
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... ORPHA:119
Leber Hereditary Optic Neuropathy
Mitochondrial respiratory chain defects, Myopathy ORPHA:104
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Dysphagia, Generalized amyotrophy, Flexion contracture OMIM:618323
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... ORPHA:254864
Bartter Syndrome, Type 2, Antenatal