Gene Summary

Name:
leucine-rich repeat kinase 2
Synonyms:
cI-46,  4921513O20Rik,  LOC381026,  9330188B09Rik,  D630001M17Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

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

Human diseases caused by Lrrk2 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 Lrrk2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Parkinson Disease 8, Autosomal Dominant
Bradykinesia, Lewy bodies OMIM:607060
Hereditary Late-Onset Parkinson Disease
Dystonia, Shuffling gait, Bradykinesia, Lewy bodies, Akinesia ORPHA:411602
Young-Onset Parkinson Disease
Dystonia, Gait imbalance, Bradykinesia ORPHA:2828

The table below shows human diseases predicted to be associated to Lrrk2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia Areata 1
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair ORPHA:505
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired proprioception, Mitochondrial hypertrophy, Decreased activity of mitochondrial complex I... OMIM:500013
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... OMIM:603965
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect OMIM:238710
Glomerulopathy With Fibronectin Deposits 1
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinu... OMIM:137950
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... ORPHA:2722
Focal Segmental Glomerulosclerosis 5
Hypertension, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hem... OMIM:613237
Iga Nephropathy, Susceptibility To, 3
Hypertension, IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesang... OMIM:616818
Nail-Patella-Like Renal Disease
Hypertension, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2613
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension, Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Congenital alopecia totalis, Nail pits ORPHA:169095
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Iga Nephropathy, Susceptibility To, 2
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:613944
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair OMIM:212835
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair OMIM:617294
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Hypotrichosis 1
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... OMIM:605389
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Parc Syndrome
Alopecia, Absent eyebrow, Absent eyelashes OMIM:600331
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscop... OMIM:601894
Renal Failure, Progressive, With Hypertension
Hypertension, Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Rena... OMIM:161900
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Decreased activity of mitochondrial complex IV, Ataxia OMIM:619061
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Proteinuria, Nephropathy ORPHA:2820
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:444
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
Primary Membranoproliferative Glomerulonephritis
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Myocardial... ORPHA:54370
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Glomeru... OMIM:613496
Iga Nephropathy, Susceptibility To, 1
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:161950
Dystonia-Aphonia Syndrome
Gait disturbance, Abnormal mitochondrial shape, Oromandibular dystonia, Generalized dystonia, Uns... ORPHA:412217
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Trichotillomania
Hair-pulling, Alopecia OMIM:613229
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Spastic Paraplegia Type 7
Spastic gait, Impaired vibration sensation in the lower limbs, Abnormal mitochondrial morphology,... ORPHA:99013
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Bradykinesia, Increased mitochondrial number OMIM:619063
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Monilethrix
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair OMIM:158000
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
L-Ferritin Deficiency
Alopecia OMIM:615604
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology OMIM:618378
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Gout, Nephropathy, Renal insufficiency OMIM:162000
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... ORPHA:84090
Dna2-Related Mitochondrial Dna Deletion Syndrome
Gait disturbance, Decreased mitochondrial number, Difficulty walking ORPHA:352470
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... OMIM:614131
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Alopecia, Woolly scalp hair, Woolly hair OMIM:601217
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Nail dystrophy, Alopecia, Nail pits OMIM:601705
Candidiasis, Familial, 1
Alopecia OMIM:114580
Spasticity, Childhood-Onset, With Hyperglycinemia
Gait disturbance, Decreased activity of the pyruvate dehydrogenase complex, Spastic ataxia OMIM:616859
Pili Torti
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... ORPHA:2889
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Focal Segmental Glomerulosclerosis 1
Hypertension, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia ORPHA:79129
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Amyloidosis, Familial Visceral
Hypertension, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Nephropathy, Proteinuria OMIM:105200
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:615573
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617609
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology, Choreoathetosis OMIM:300438
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Acute kidney injury, ... ORPHA:567544
Fanconi Renotubular Syndrome 5
Hypertension, Lung adenocarcinoma, Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, G... OMIM:618913
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:202
Nephronophthisis 16
Hypertrophic cardiomyopathy, Nephronophthisis, Pulmonic stenosis, Polycystic kidney dysplasia, Ao... OMIM:615382
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Ataxia, Abnormal mitochondrial shape, Gait ataxia ORPHA:543470
Nephronophthisis 2
Pulmonary insufficiency, Hypertension, Chronic tubulointerstitial nephritis, Nephronophthisis, St... OMIM:602088
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Denys-Drash Syndrome
Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy OMIM:619518
Barth Syndrome
Gait disturbance, Abnormal mitochondrial morphology OMIM:302060
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Hypertension, Pelvic kidney, Glomerulo... ORPHA:93101
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:600995
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Hypotension, Acute kidney injury, Nephropathy, Chronic kidney d... ORPHA:85445
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair OMIM:614931
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Hypertension, Urinary hesitancy, Urinary retention, Atrial fibrillation, D... ORPHA:976
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
Kerion Celsi
Alopecia ORPHA:499
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... OMIM:613573
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Abnormal mitochondrial morphology ORPHA:275872
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617006
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... ORPHA:93108
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome OMIM:614650
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Glomerulopathy, Proteinuria,... ORPHA:225
Pyruvate Dehydrogenase Phosphatase Deficiency
Gait ataxia, Decreased activity of the pyruvate dehydrogenase complex OMIM:608782
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome OMIM:614196
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... OMIM:610725
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Lumbar hypertrichosis, Sacral hypertrichosis, Thoracic hypertri... OMIM:117850
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Abnormal fingernail m... ORPHA:248
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... OMIM:614817
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Combined Oxidative Phosphorylation Deficiency 46
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I OMIM:618952
Monilethrix
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... ORPHA:573
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Inability to walk, Oculogyric crisis, Delayed menarche, Abnormality of the mitochondrio... ORPHA:330050
Pseudopelade Of Brocq
Abnormal hair morphology, Alopecia, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasi... ORPHA:129
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Quinquaud Folliculitis Decalvans
Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp ORPHA:346
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hypertension, Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenom... OMIM:263200
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Porphyria Cutanea Tarda
Alopecia, Facial hypertrichosis, Onycholysis OMIM:176100
Alagille Syndrome 2
Renal hypoplasia, Hypertension, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hem... OMIM:610205
C3 Glomerulopathy
Hypertension, Nephrotic syndrome, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... ORPHA:329918
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Alopecia, Sparse hair OMIM:616353
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Protein... OMIM:618349
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Dystonia, Decreased activity of the pyruvate dehydrogenase complex OMIM:616277
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Proteinuria,... OMIM:254900
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Dystonia, Abnormal mitochondrial shape, Choreoathetosis, Decreased activity of mitochondrial comp... ORPHA:17
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Cafe-au-lait spot, Elevated urinary nore... OMIM:171420
Leber Hereditary Optic Neuropathy
Ataxia, Mitochondrial respiratory chain defects ORPHA:104
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Recurrent respiratory infections, Hypertension, Pulmonary fibrosis ORPHA:2111
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard... ORPHA:439232
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Immunodeficiency 8
Hyperactivity OMIM:615401
Clouston Syndrome
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... OMIM:129500
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Elevated systolic blood pressure, Acute kidney i... ORPHA:275555
Combined Oxidative Phosphorylation Deficiency 49
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex III, ... OMIM:619024
Cowden syndrome 3
Neoplasm of the thyroid gland, Abnormality of mitochondrial metabolism OMIM:615106
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Nephritis, Stage 5 chronic kidney disease OMIM:609057
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Xanthinuria, Type I
Xanthinuria, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephro... ORPHA:730
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Proteinuria, Renal insufficiency, Nephropathy OMIM:166300
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Chronic kidney disease, Diffuse mesangial ... OMIM:615244
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... ORPHA:330001
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... OMIM:203780
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... OMIM:619155
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Cryoglobulinemia, Familial Mixed
Hypertension, Abnormal renal physiology, Hematuria, Chronic kidney disease, Proteinuria OMIM:123550
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia OMIM:614564
Oliver-Mcfarlane Syndrome
Long eyebrows, Sparse hair, Long eyelashes, Alopecia OMIM:275400
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair OMIM:104100
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Renal dysplasia, Nephritis, Pyelonephritis, Melanocytic nevus, Unilateral renal atrophy OMIM:314300
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hypertrophic cardiomyopathy, Hepatomegaly, Pulmonic stenosis, Aortic valv... OMIM:615415
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash OMIM:152700
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Congenital onychodystro... ORPHA:2890
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia OMIM:618373
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Sparse ... ORPHA:1882
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... OMIM:104200
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Ridged fingernail, Sparse hair ORPHA:2251
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... OMIM:300555
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... ORPHA:656
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... OMIM:615862
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Hypertension, Abnormal nephron morphology, Abn... ORPHA:2260
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Abnormal renal tubule morphology, Nephrotic syndrome ORPHA:839
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Thrombotic Thrombocytopenic Purpura
Hematuria, Myocardial infarction, Acute kidney injury, Proteinuria, Renal insufficiency, Arrhythmia ORPHA:54057
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Decreased activity of the pyruvate dehydrogenase complex, Ataxia, Choreoathe... OMIM:245348
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal glom... ORPHA:567548
Familial Mediterranean Fever, Autosomal Dominant
Pleuritis, Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Cednik Syndrome
Proteinuria, Congestive heart failure, Nephrotic syndrome ORPHA:66631
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Frasier Syndrome
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Glomer... ORPHA:347
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:136680
Myh9-Related Disease
Renal insufficiency, Nephritis, Proteinuria, Nephropathy ORPHA:182050
Skin Fragility-Woolly Hair Syndrome
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow OMIM:607655
Tubulointerstitial Nephritis With Uveitis
Reversible renal failure, Anterior uveitis, Panuveitis, Uveitis, Glomerulonephritis, Acute tubulo... OMIM:607665
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency OMIM:245900
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:1192
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Decreased activity of the pyruvate dehydrogenase complex, Choreoathetosis, Episodic ata... OMIM:312170
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Dilated cardiomyopathy, Focal segmental glomerulosclerosis, Minimal change... OMIM:616730
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... OMIM:610984
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Anti-Glomerular Basement Membrane Disease
Hematuria, Vasculitis, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:375
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion ORPHA:91130
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Anuria, Hematuria, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria OMIM:612926
Nephronophthisis 13
Renal hypoplasia, Mild proteinuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:614377
Galloway-Mowat Syndrome 5
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hepatomegaly, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria OMIM:616026
Pseudoprogeria Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair ORPHA:2985
Renal Hypodysplasia/Aplasia 1
Hypertension, Renal agenesis, Renal dysplasia, Proteinuria, Pulmonary hypoplasia OMIM:191830
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche OMIM:145295
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypogonadism, Adrenal insufficiency, Delayed puberty, Central adrenal insufficiency OMIM:612079
Pheochromocytoma
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Cafe-au-lait spot, Elevated urinary nore... OMIM:171300
Renal Agenesis
Hypertension, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureter... ORPHA:411709
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria OMIM:615605
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... OMIM:301006
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Alopecia totalis OMIM:212360
Hypotrichosis 12
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... OMIM:615885
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Hypergonadotropic hypogonadism ORPHA:352447
Imerslund-Grasbeck Syndrome 1
Proteinuria OMIM:261100
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... OMIM:134600
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2668
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity ORPHA:85288
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Unsteady gait, Dystonia, Decreased activity of the pyruvate dehydrogenase complex, Ataxia OMIM:245349
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse body hair ORPHA:2850
Retinal Venous Beading
Nephritis OMIM:180080
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypertension, Membranoproliferative glomerulonephritis, Proteinuria, Enlar... ORPHA:251004
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Adrenal hypoplasia, Adrenocorticotropic hormone d... OMIM:609734
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Hypertriglyceridemia OMIM:615924
Dyschondrosteosis And Nephritis
Nephritis OMIM:127350
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hypertrophic cardiomyopathy, Focal segmental glomerulosclerosis, Hepatomeg... OMIM:617303
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler... OMIM:617730
Xfe Progeroid Syndrome
Hypertension, Proteinuria, Renal insufficiency OMIM:610965
Friedreich Ataxia
Mitochondrial malic enzyme reduced, Impaired proprioception, Ataxia, Impaired vibratory sensation... OMIM:229300
Heme Oxygenase 1 Deficiency
Hypertension, Hepatomegaly, Hematuria, Nephritis, Epistaxis, Diffuse alveolar hemorrhage, Protein... OMIM:614034
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Elevated urinary epinephrine, Palpitations, Hematuria, Glomerular sclerosis,... ORPHA:276621
Schöpf-Schulz-Passarge Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia ORPHA:50944
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the nail, Sparse hair, Toenail dysplasia OMIM:607823
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Alopecia ORPHA:79397
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... ORPHA:94088
Glycogen Storage Disease Ia
Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Decreased glomerular filtration r... OMIM:232200
Pyruvate Dehydrogenase Phosphatase Deficiency
Decreased activity of the pyruvate dehydrogenase complex ORPHA:79246
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Alopecia OMIM:617763
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Glycogen Storage Disease V
Myoglobinuria, Dark urine OMIM:232600
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Sparse and thin eyebrow, Sparse eyelashes, Abnormality of the nail, Alopecia OMIM:129540
Idiopathic Trachyonychia
Ridged nail, Fingernail dysplasia, Thin nail, Nail dystrophy, Circumungual hyperkeratosis, Fragil... ORPHA:79153
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypogonadism, Panhypopituitarism, Hypothyroidism, Reduced circulating prol... OMIM:262600
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d... OMIM:301050
Plasminogen Deficiency, Type I
Periodontitis, Nephritis, Nephrolithiasis, Conjunctivitis OMIM:217090
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Childhood-Onset Spasticity With Hyperglycinemia
Unsteady gait, Loss of ability to walk in early childhood, Decreased activity of the pyruvate deh... ORPHA:401866
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Fabry Disease
Hypertension, Lipiduria, Urinary mulberry cells, Myocardial infarction, Left ventricular hypertro... OMIM:301500
Glycogen Storage Disease Ib
Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Decreased glomerular filtration r... OMIM:232220
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Alopecia universalis, Sparse hair OMIM:614594
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Myositis, Abnormality of the urinary system, Hematuria, Nephritis, Discoid lu... ORPHA:93552
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Dilated cardiomyopathy, Focal segmental glomerulosclerosis, Minimal change... OMIM:618348
Lymphoid Interstitial Pneumonia
Subpleural interstitial thickening, Hepatomegaly, Bronchiectasis, Raynaud phenomenon, Respiratory... ORPHA:79128
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl... OMIM:256300
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Fingernail dysplasia, Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse scal... ORPHA:2325
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Proteinuria, Abnormality of the kidney ORPHA:369
Erythrokeratodermia Variabilis
Abnormality of the nail, Alopecia, Abnormal hair morphology, Generalized hirsutism ORPHA:317
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... OMIM:300009
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Juvenile Huntington Disease
Dystonia, Chorea, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based... ORPHA:248111
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Nail dysplasia, Sparse an... OMIM:612843
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Cardiomegaly, Spl... OMIM:256550
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Abnormality of the pulmonary vasculature, De... ORPHA:93126
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... OMIM:120330
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Ureteral duplication, Hydronephrosis, Antenatal intracerebr... OMIM:608836
Free Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Abnormality of skin pigmentation, Splenomegaly, Iris hypopigmen... ORPHA:834
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Hypopigmented skin patches, Tubulointerst... ORPHA:183
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Alopecia of scalp, Sparse eyebrow, Absent pubic hair, Absent axillar... ORPHA:2269
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair OMIM:211390
Simple Cryoglobulinemia
Hypertension, Pericarditis, Nephrotic syndrome, Nephritis, Mesangial hypercellularity, Raynaud ph... ORPHA:91139
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Hypertension, Hepatomegaly, Tubulointerstitial nephritis, Nephrotic syndro... ORPHA:85450
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Primary adrenal insufficiency, Hypogonadism, Type I diabetes mellitus, Abnorm... ORPHA:3143
Lcat Deficiency
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kidney injury, Protei... ORPHA:650
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Hematuria, Splenomegaly, Renal insufficiency, Small vessel vasculitis, Proteinuria,... ORPHA:36412
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Abnormal renal physiology, Hematuria, Stage 5 chronic k... OMIM:308940
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Abnormality of retinal pigmentation, Heavy proteinuria, Nephrotic sy... ORPHA:505248
Keratoderma Hereditarium Mutilans
Abnormal toenail morphology, Alopecia, Abnormality of the nail ORPHA:494
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... ORPHA:228302
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Nail dystrophy, Alopecia, Sparse hair OMIM:242300
Adrenal Hypoplasia, Congenital
Decreased circulating aldosterone level, Adrenal insufficiency, Hypogonadotropic hypogonadism, Ab... OMIM:300200
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Vesicoureteral reflux, Chronic kidney disease, Proteinuria, Abnormality of the ki... ORPHA:261222
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage OMIM:603585
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Elevated urinary epinephrine, Palpitations, Renal cell carcinoma, Hematuria,... ORPHA:29072
Nephronophthisis 1
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:256100
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome OMIM:618347
Legionnaires Disease
Myocarditis, Pericarditis, Hematuria, Splenomegaly, Arrhythmia, Abnormal pleura morphology, Abnor... ORPHA:549
Senior-Loken Syndrome 9
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease OMIM:616629
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Renal Fanconi syndrome, Hepatomegaly, Nephrocalcinosis, Glomerular s... OMIM:276700
Cronkhite-Canada Syndrome
Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Alopecia, Hypoplastic toenails, Abno... ORPHA:2930
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Pleuritis, Abnormal lung morphology, Chronic kidney disease, Perica... ORPHA:449395
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Cardiomegaly, Acute kidney injury, Proteinuria OMIM:618886
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Nephrotic syndrome OMIM:215250
Cryoglobulinemic Vasculitis
Hepatomegaly, Hematuria, Splenomegaly, Gastrointestinal hemorrhage, Vasculitis, Glomerulopathy, P... ORPHA:91138
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Pro... OMIM:146255
Galactosemia I
Hepatomegaly, Aminoaciduria, Increased level of galactitol in urine, Albuminuria, Galactosuria OMIM:230400
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Aortic valve stenosi... OMIM:208540
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Tachycardia, Hypotension OMIM:145600
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulo... ORPHA:567546
Ohdo Syndrome
Proteinuria OMIM:249620
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Retinal pigment epithelial mottling, Stage 5 chronic kidney disease OMIM:219900
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Exercise-induced myoglobinuria, Tachycardia, Dark urine, Acute kidne... ORPHA:368
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction... OMIM:220110
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Schimke Immunoosseous Dysplasia
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Cerebral ischemia, Transien... OMIM:242900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Hepatomegaly, Chronic tubulointerstitial nephritis, Stage 5 chronic kidney dise... OMIM:614376
Glycogen Storage Disease, Type Ixd
Exercise-induced myoglobinuria OMIM:300559
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... OMIM:617575
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Alopecia OMIM:615704
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Nephropathy, Splenomegaly ORPHA:100024
Manganese Poisoning
Dystonia, Gait disturbance, Bradykinesia, Akinesia, Abnormality of mitochondrial metabolism ORPHA:306682
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hypertrophic cardiomyopathy, Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction... ORPHA:436271
Al Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormal P wave, Nephrotic syndrome, Renal interstitia... ORPHA:85443
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Pulmonary hypoplasia, Enlarged kidney OMIM:608022
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Pulmonary arterial hypertension, Proteinuria, Hyperechogenic kidneys, Ren... OMIM:613845
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Chorea, Bradykinesia, Lewy bodies, Hyperactivity, Dysdiadochokinesis, Neurof... OMIM:610217
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormality of mitochondrial metabolism, Dystonia, Truncal ataxia ORPHA:88639
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse scalp hair, Sparse body hair ORPHA:69735
Schimke Immuno-Osseous Dysplasia
Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Pulmonary ar... ORPHA:1830
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Alopecia totalis, Absent fingernail, Alopecia universalis, Anonychia OMIM:609638
Reticular Dysgenesis
Abnormality of mitochondrial metabolism, Aplasia/Hypoplasia of the thymus ORPHA:33355
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency, Decreased circulating cortisol level OMIM:103230
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... ORPHA:251393
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Subconjunctival hemorrhage, Epistaxis, Splenomegaly, Hepatosplenomegaly, Mul... ORPHA:464329
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Pneumonia, Glomerular sclerosis, Cardiomyopathy, Raynaud phenomenon... ORPHA:247691
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Telangiectasia, Hematuria, Vasculitis in the skin, Raynaud phenomenon, Punctate vasculitis skin l... OMIM:192315
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, Sparse hair ORPHA:3051
Alstrom Syndrome
Chronic active hepatitis, Tubulointerstitial nephritis, Nephritis, Otitis media, Recurrent pneumo... OMIM:203800
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Pituitary hypothyroidism, Gonadotropin deficiency, Hyperinsulinemi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Pituitary hypothyroidism, Gonadotropin deficiency, Hyperinsulinemi... ORPHA:71526
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Hypervitaminosis A, Susceptibility To
Alopecia totalis OMIM:240150
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Sparse hair ORPHA:1839
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Renal phosphate wasting, Low-molecular-w... OMIM:300554
H Syndrome
Facial telangiectasia, Bronchiectasis, Hyperpigmentation of the skin, Micropenis, Abnormal cardio... ORPHA:168569
Paragangliomas 1
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Chemode... OMIM:168000
Wilson Disease
Hyperphosphaturia, Hepatomegaly, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, Glyco... OMIM:277900
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Pulmonary edema, Chro... ORPHA:340
Aicardi-Goutieres Syndrome 9
Portal hypertension, Hypertension, Hepatomegaly, Pericarditis, Glomerular sclerosis, Stage 5 chro... OMIM:619487
Paroxysmal Cold Hemoglobinuria
Recurrent respiratory infections, Hemoglobinuria, Abnormal urinary color ORPHA:90035
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Tubulointerstitial nephritis, Prolonged QT interval, Ventricul... ORPHA:90068
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Proteinuria, Renal artery stenosis, Nephropathy OMIM:209010
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Hematuria, Pulmonary venous hypertension, Pulmonar... ORPHA:90060
Cystinosis
Portal hypertension, Renal tubular dysfunction, Nephropathy, Aminoaciduria, Proteinuria, Renal in... ORPHA:213
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Abnormality of the pulmonary vasculature, Renal duplication, Recurr... ORPHA:33001
Systemic Sclerosis
Right ventricular failure, Syncope, Myocarditis, Raynaud phenomenon, Intestinal bleeding, Chronic... ORPHA:90291
Autoimmune Lymphoproliferative Syndrome, Type Iia
Malar rash, Nephritis, Nephrotic syndrome OMIM:603909
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Proteinuria, Nephropathy ORPHA:1765
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Classic Mycosis Fungoides
Alopecia, Abnormality of the nail ORPHA:2584
Hand-Foot-Genital Syndrome
Hypospadias, Chordee, Pyelonephritis, Micropenis, Ureteropelvic junction obstruction, Vesicourete... OMIM:140000
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia ORPHA:1867
Myopathy With Lactic Acidosis, Hereditary
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex II, ... OMIM:255125
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular acidosis, Incr... ORPHA:3337
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
Feingold Syndrome Type 1
Horseshoe kidney, Hydronephrosis, Renal dysplasia, Nephritis, Patent ductus arteriosus, Vesicoure... ORPHA:391641
Ichthyosis, Congenital, Autosomal Recessive 2
Thin nail, Small nail, Abnormal hair morphology, Alopecia OMIM:242100
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Extrapulmonary sequestrum, Pulmonary hypoplasia, Enlarged k... OMIM:200995
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Cardiomyopathy ORPHA:119
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Chemodectoma, Elevated circulating catec... OMIM:605373
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria OMIM:619428
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Birk-Landau-Perez Syndrome
Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal insufficiency OMIM:617595
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Sparse eyelashes, Thick hair, Alopecia, Sparse hair OMIM:607626
Sialuria
Attention deficit hyperactivity disorder, Abnormality of the mitochondrion ORPHA:3166
Hypomelanosis Of Ito
Alopecia OMIM:300337
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Hemolytic-uremic syndrome, Myocardial infarction, Microscopic hematuri... OMIM:274150
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Alopecia OMIM:618282
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Abnormality of the mitochondrion, Paresthesia, Hypergonadotropic h... ORPHA:298
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Arrhythmia ORPHA:57
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia ORPHA:50812
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hepatomegaly, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urin... ORPHA:157
Renal Nutcracker Syndrome
Syncope, Orthostatic hypotension, Hematuria, Tachycardia, Microscopic hematuria, Proteinuria, Ren... ORPHA:71273
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Hypertriglyceridemia, Gait ataxia, Hyperinsulinemia, Limb dystonia ORPHA:363400
Multiple Mitochondrial Dysfunctions Syndrome 3
Abnormality of mitochondrial metabolism OMIM:615330
Microsporidiosis
Sinusitis, Myocarditis, Cholangitis, Infectious encephalitis, Pneumonia, Endocarditis, Lymphadeni... ORPHA:2552
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proteinuria, Nephropathy ORPHA:2774
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Proteinuria, Renal insufficiency ORPHA:1307
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Renal cyst, Nephrolithiasis, Glycosuria, Stage 5 chronic kidney di... OMIM:137920
Lichen Planopilaris
Abnormal fingernail morphology, Alopecia, Onycholysis ORPHA:525
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia, Choreoathetosis OMIM:612716
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Glycogen Storage Disease Ic
Hypertension, Focal segmental glomerulosclerosis, Spider hemangioma, Hepatomegaly, Hematuria, Dec... OMIM:232240
Autosomal Recessive Polycystic Kidney Disease
Portal hypertension, Hypertension, Stage 5 chronic kidney disease, Splenomegaly, Recurrent urinar... ORPHA:731
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, N... ORPHA:47159
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urin... ORPHA:228308
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Proximal tubulopathy, Stage 5 chronic kidney disease, Glycosuria, Renal p... ORPHA:411634
Hemifacial Atrophy, Progressive
Poliosis, Patchy alopecia OMIM:141300
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Hellp Syndrome
Cerebral hemorrhage, Hemoglobinuria, Acute kidney injury, Pulmonary edema, Proteinuria, Pleural e... ORPHA:244242
Frontonasal Dysplasia 2
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Alopecia OMIM:613451
Morm Syndrome
Hyperactivity ORPHA:75858
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the pituitary gland, Ad... ORPHA:91349
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Chorea ORPHA:88616
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Hepatomegaly, Tachycardia, Glycosuria, Proteinuria ORPHA:263455
Adult Syndrome
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Alopecia, Sparse scalp hair, Abnormality of... ORPHA:978
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Hsd10 Disease, Infantile Type
Loss of ability to walk, Dystonia, Abnormality of mitochondrial metabolism, Choreoathetosis ORPHA:391428
Nail-Patella Syndrome
Nephrotic syndrome, Lester's si