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Gene: Lrrk2 MGI:1913975

Gene Summary

Name:

leucine-rich repeat kinase 2

Synonyms:

cI-46, 4921513O20Rik, LOC381026, 9330188B09Rik, D630001M17Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

No results meet the p-value threshold

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Viewing: all phenotypes

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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

Lrrk2^{tm1.1(KOMP)Mbp}
eye opacity, eye, abnormal eye morphology, corneal opacity, HOM, Female, WTSI

Lrrk2^{tm1.1(KOMP)Mbp}
abnormal tail morphology, short tail, HOM, Male, WTSI

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.

Human diseases associated with Lrrk2 (3 diseases)
Human diseases predicted to be associated with Lrrk2 (871 diseases)

The table below shows human diseases associated to Lrrk2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Hereditary Late-Onset Parkinson Disease	Impulsivity, Akinesia, Agitation, Shuffling gait, Dysphagia, Lewy bodies	ORPHA:411602
Parkinson Disease 8, Autosomal Dominant	Lewy bodies	OMIM:607060
Young-Onset Parkinson Disease	Restless legs, Agitation, Gait imbalance, Impulsivity	ORPHA:2828

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

Disease	Matching phenotypes	Source
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Impaired vibratory sensation, Mitochondrial hypertrophy, Decreased activity of mitochondrial comp...	OMIM:500013
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, Familial Focal	Patchy alopecia	OMIM:104110
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta...	OMIM:603965
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:616818
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi...	OMIM:613237
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria	ORPHA:2613
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis	OMIM:607832
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Barth Syndrome	Abnormal mitochondrial morphology	ORPHA:111
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension, Nephropathy, Proteinuria	ORPHA:2820
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Spastic Paraplegia Type 7	Somatic sensory dysfunction, Impaired vibration sensation in the lower limbs, Abnormal mitochondr...	ORPHA:99013
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Trichotillomania	Hair-pulling, Alopecia	OMIM:613229
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Hsd10 Mitochondrial Disease	Restlessness, Aggressive behavior, Abnormal mitochondrial morphology, Choreoathetosis, Agitation	OMIM:300438
Preeclampsia/Eclampsia 1	Hypertension, Proteinuria	OMIM:189800
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney diseas...	OMIM:613496
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Mitochondrial hypertrophy	OMIM:602541
L-Ferritin Deficiency	Alopecia	OMIM:615604
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Dystonia-Aphonia Syndrome	Unsteady gait, Abnormal mitochondrial shape, Gait disturbance, Dysphagia	ORPHA:412217
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number, Gait disturbance, Difficulty walking	ORPHA:352470
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Loss of ambulation, Mitochondrial hypertrophy	OMIM:619518
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy...	ORPHA:84090
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number	ORPHA:457050
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Pl...	OMIM:603278
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Alopecia of scalp, Trichodysplasia	ORPHA:79129
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mitochondrial swelling, Dysphagia	ORPHA:397744
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Pulmonic stenosis, Po...	OMIM:615382
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p...	OMIM:615008
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy	OMIM:105200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape, Ataxia, Gait ataxia	ORPHA:543470
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ...	OMIM:602088
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Pulmonary fibrosis, Gly...	OMIM:618913
Frontotemporal Dementia With Motor Neuron Disease	Progressive cerebellar ataxia, Disinhibition, Abnormal mitochondrial morphology, Dysphagia	ORPHA:275872
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Denys-Drash Syndrome	Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma	ORPHA:220
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape, Dysphagia	ORPHA:485421
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Kerion Celsi	Alopecia	ORPHA:499
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Atrial fibrillation, Proteinuria, Dysuria, Recurrent urinary tract infection...	ORPHA:976
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis	ORPHA:3327
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstiti...	OMIM:619902
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis	OMIM:617006
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth...	ORPHA:225
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Increased mitochondrial number, Dysmetria	OMIM:615578
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test	OMIM:262700
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Mitochondrial Complex I Deficiency, Nuclear Type 29	Decreased activity of mitochondrial complex I, Mitochondrial swelling	OMIM:618250
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Combined Oxidative Phosphorylation Deficiency 19	Mitochondrial swelling	OMIM:615595
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu...	OMIM:610205
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ...	ORPHA:439232
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia, Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:2111
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Aggressive behavior, Decreased activity of mitochondrial complex IV...	ORPHA:17
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171420
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated diastolic blood pressure...	ORPHA:275555
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Epidermolysis Bullosa, Junctional 5A, Intermediate	Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope...	OMIM:619816
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Congestive h...	ORPHA:330001
Nephrotic Syndrome, Type 22	Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m...	OMIM:619155
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology	OMIM:123550
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:608709
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Moynahan Syndrome	Sparse hair, Alopecia	ORPHA:2574
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Melanocytic nevus, Pyelonephritis, Nephritis, Renal dysplasia	OMIM:314300
Oliver-Mcfarlane Syndrome	Sparse hair, Alopecia, Long eyelashes, Long eyebrows	OMIM:275400
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail	ORPHA:2251
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira...	ORPHA:656
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Oligomeganephronia	Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Glomerul...	ORPHA:2260
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Arrhythmia, Acute kidney injury	ORPHA:54057
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona...	ORPHA:567548
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Pulmonary cyst, Enlarged kidney	OMIM:618272
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Pleuritis, Proteinuria, Renal amyloidosis	OMIM:134610
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Inability to walk, Delayed menarche, Abnormality of the mitochondrion, Difficulty walking	ORPHA:330050
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Myh9-Related Disease	Nephropathy, Renal insufficiency, Proteinuria, Nephritis	ORPHA:182050
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Cednik Syndrome	Congestive heart failure, Nephrotic syndrome, Proteinuria	ORPHA:66631
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hypertension, Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:1192
Acquired Partial Lipodystrophy	Glomerulopathy, Microscopic hematuria, Proteinuria	ORPHA:79087
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Fumarase Deficiency	Mitochondrial swelling, Decreased fumarate hydratase activity	OMIM:606812
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Nephrotic syndrome, Focal segment...	ORPHA:347
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert...	OMIM:612925
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Hepatomegaly, Proteinuria	OMIM:620010
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria	ORPHA:375
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat...	OMIM:616730
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a...	OMIM:166300
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612924
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612926
Renal Agenesis	Renal insufficiency, Proteinuria, Renal agenesis, Unilateral renal agenesis, Ureteral agenesis, H...	ORPHA:411709
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes	ORPHA:3363
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Pheochromocytoma	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171300
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair	ORPHA:2985
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dystrophy, Alopecia totalis, Nail dysplasia	OMIM:212360
Renal Hypodysplasia/Aplasia 1	Proteinuria, Hypertension, Bilateral renal agenesis, Pulmonary hypoplasia, Renal dysplasia	OMIM:191830
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Abnormal lung lobation, Aortic valve stenosis, Pulmonary hypoplasia, Pulmonic steno...	OMIM:615415
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin...	ORPHA:97362
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Hypergonadotropic hypogonadism, Dysphagia	ORPHA:352447
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu...	ORPHA:63
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Combined Oxidative Phosphorylation Deficiency 50	Adrenal insufficiency	OMIM:619025
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Hypermelanotic macule, S...	OMIM:617730
Free Sialic Acid Storage Disease	Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, Abnormality of skin pi...	ORPHA:834
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure...	ORPHA:276621
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Barth Syndrome	Gait disturbance, Abnormal mitochondrial morphology	OMIM:302060
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp	OMIM:136300
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2668
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Nail dystrophy, Nail dysplasia	ORPHA:79397
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Enlar...	ORPHA:251004
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Heme Oxygenase 1 Deficiency	Hepatomegaly, Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Hypertension, Nephr...	OMIM:614034
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Recurrent respiratory infections, Proteinuria, Congestive heart failure, Splenomega...	OMIM:617303
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise...	OMIM:617575
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Hypertension, Focal segmental glomerulosclerosis, Enl...	OMIM:232200
Fabry Disease	Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur...	OMIM:301500
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,...	ORPHA:93552
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Nephrolithiasis, Periodontitis	OMIM:217090
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, N...	OMIM:613404
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat...	OMIM:618348
Erythrokeratodermia Variabilis	Abnormal hair morphology, Alopecia, Generalized hirsutism, Abnormality of the nail	ORPHA:317
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Proteinuria, Abnormality of the kidney	ORPHA:369
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis	OMIM:618347
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria	OMIM:615605
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Increa...	OMIM:256550
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp...	OMIM:612843
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Lymphoid Interstitial Pneumonia	Hepatomegaly, Multiple pulmonary cysts, Raynaud phenomenon, Respiratory tract infection, Bronchie...	ORPHA:79128
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure...	ORPHA:29072
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Hypertension, Focal segmental glomerulo...	OMIM:232220
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio...	OMIM:300200
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Sparse eyebrow, Alopecia, Sparse eyelashes, Nail dysplasia	OMIM:615704
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Proteinuria, Congestive heart fai...	ORPHA:85450
Lcat Deficiency	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ...	ORPHA:650
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A...	OMIM:607823
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage	OMIM:603585
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Transient ischemic atta...	ORPHA:183
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Abnormality of the mitochondrion	ORPHA:91130
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism...	ORPHA:3143
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number, Diabetes mellitus, Hypothyroidism	ORPHA:263297
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Vesicoureteral re...	ORPHA:261222
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec...	ORPHA:2930
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Abnorm...	ORPHA:85443
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Splenomegaly, Emphysema, Hematuri...	ORPHA:36412
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Tachycardia, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney ...	ORPHA:368
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Keratoderma Hereditarium Mutilans	Alopecia, Abnormality of the nail, Abnormal toenail morphology	ORPHA:494
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Membranoproliferative glomerulonephritis, Renal insuff...	ORPHA:91139
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrome, Fo...	OMIM:194080
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Hypertension, Acute kidney injury	OMIM:618886
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Tracheobronchial leio...	OMIM:308940
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Proteinuria, Recurrent...	ORPHA:505248
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Respiratory tract infection, Chronic kidne...	ORPHA:567546
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria	OMIM:215250
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly	OMIM:619858
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ...	OMIM:614376
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Tachycardia, Hypotension	OMIM:145600
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Sple...	ORPHA:91138
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Abnormal pleura morphology, Myocarditis, Splenome...	ORPHA:549
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme...	OMIM:146255
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic...	OMIM:608836
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair	ORPHA:3051
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Pulmonary hypoplasia, Hydronephrosis, Enlarged kidney	OMIM:314390
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Pigmentary retinopathy, ...	ORPHA:436271
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Pulmonary hypoplasia, Cystic renal dyspl...	OMIM:608022
Mu-Heavy Chain Disease	Splenomegaly, Nephropathy, Bence Jones Proteinuria, Hepatomegaly	ORPHA:100024
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis	OMIM:609638
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Ichthyosis, Congenital, Autosomal Recessive 1	Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:242300
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury	OMIM:268200
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Proteinuria, Hypermelanotic macule, Minimal change glomerulonephritis,...	ORPHA:1830
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Galactosemia I	Hepatomegaly, Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine	OMIM:230400
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Mi...	OMIM:620300
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer...	ORPHA:449395
Alstrom Syndrome	Renal insufficiency, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis,...	OMIM:203800
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin...	ORPHA:247691
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Impulsivity, Neurofibrillary tangles, Chorea, Dysmetria, Gait ataxia, Dysdiadochok...	OMIM:610217
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Portal hypertension, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:208540
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R...	OMIM:192315
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para...	OMIM:605373
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Alopecia totalis	ORPHA:1366
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Pigmentary retinopathy, ...	OMIM:220110
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Splenomegaly, Abnormal lung morphology, Hepatosplenomegaly, Subco...	ORPHA:464329
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Pulmonary arterial hypertensio...	OMIM:613845
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo...	OMIM:607426
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Melena, Nephrocalci...	OMIM:276700
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephrotic syndrome, Malar rash, Nephritis	OMIM:603909
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Pericarditis, Renal insufficiency, Proteinuria, Recurrent urinary tract infections,...	OMIM:619487
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Diffuse Alveolar Hemorrhage	Proteinuria, Hematuria, Pulmonary venous hypertension, Pulmonary fibrosis, Irregular septal thick...	ORPHA:90060
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myoglobinuria	OMIM:231530
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Recurrent respiratory infections, Hemoglobinuria	ORPHA:90035
Alzheimer Disease 3	Neurofibrillary tangles, Gait disturbance, Dysphagia, Optic ataxia	OMIM:607822
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ...	ORPHA:213
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Systemic Sclerosis	Intestinal bleeding, Abnormality of the kidney, Raynaud phenomenon, Pulmonary fibrosis, Gastroint...	ORPHA:90291
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia	ORPHA:1867
H Syndrome	Hyperpigmentation of the skin, Abnormality of the kidney, Recurrent pharyngitis, Abnormal cardiov...	ORPHA:168569
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Ab...	ORPHA:33001
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di...	ORPHA:90068
8P23.1 Duplication Syndrome	Adrenal insufficiency	ORPHA:251076
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Patent ductus arteriosus, Horses...	ORPHA:391641
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Cardiomyopathy, Myoglobinuria	ORPHA:119
Microsporidiosis	Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis...	ORPHA:2552
Schimke Immunoosseous Dysplasia	Renal insufficiency, Transient ischemic attack, Proteinuria, Hypermelanotic macule, Stage 5 chron...	OMIM:242900
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition...	OMIM:607485
Classic Mycosis Fungoides	Alopecia, Abnormality of the nail	ORPHA:2584
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology	ORPHA:525
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Mic...	ORPHA:71273
Hellp Syndrome	Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Pleural effusion, Acute kidney inj...	ORPHA:244242
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
Thrombotic Thrombocytopenic Purpura, Hereditary	Transient ischemic attack, Proteinuria, Myocardial infarction, Hemolytic-uremic syndrome, Microsc...	OMIM:274150
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epith...	ORPHA:157
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Arrhythmia, Acute kidney injury	ORPHA:57
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pulmonary hypoplasia, Extrapulmonary sequestrum, Cystic renal dysplasia, Enlarged k...	OMIM:200995
Isolated Anencephaly/Exencephaly	Primary adrenal insufficiency	ORPHA:1048
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of...	ORPHA:2269
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Myoglobinuri...	ORPHA:228308
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Mitochondrial Complex I Deficiency, Nuclear Type 16	Adrenal insufficiency	OMIM:618238
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Abnormal iris pigmentation, Thickene...	ORPHA:2614
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Systemic Lupus Erythematosus 17	Alopecia	OMIM:301080
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Recurrent upper respiratory tr...	OMIM:232240
Early-Onset Autosomal Dominant Alzheimer Disease	Neurofibrillary tangles, Agitation, Ataxia, Disinhibition	ORPHA:1020
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Brittle hair, Nail dystrophy	ORPHA:75389
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Emphysema,...	ORPHA:324
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Hypovolemia, Stage 5 chronic kidney dis...	ORPHA:411634
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d...	ORPHA:978
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduri...	OMIM:227810
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Thin eyebrow	ORPHA:3242
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Abnormality of retinal pigmentation, Proteinuria, Hypopigmen...	ORPHA:2715
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy	OMIM:616353
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial ...	ORPHA:139402
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr...	ORPHA:47159
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Neurofibrillary tangles	DECIPHER:48
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia	OMIM:215100
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Tachycardia, Proteinuria, Renal Fanconi syndrome, Glycosuria	ORPHA:263455
Alzheimer Disease 2	Neurofibrillary tangles	OMIM:104310
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Congenital Ichthyosiform Erythroderma	Alopecia, Abnormality of the nail	ORPHA:79394
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Spontaneous...	ORPHA:731
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst...	ORPHA:3253
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Patent ductus arteriosus, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Rena...	OMIM:619351
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Alopecia totalis	OMIM:300918
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Myoglobinuria, Red-brown urine, Cardiomyopathy, Arrhythmia	ORPHA:228305
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit...	OMIM:617595
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri...	ORPHA:99845
Menkes Disease	Sparse hair, Alopecia, Brittle hair	OMIM:309400
Bathing Suit Ichthyosis	Sparse hair, Alopecia, Nail dystrophy	ORPHA:100976
Pseudohypoaldosteronism, Type Iia	Pseudohypoaldosteronism	OMIM:145260
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Sudden cardiac death, Exercise-induced myoglobinuria, Cardio...	OMIM:201475
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren...	OMIM:243910
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Pancreatitis	OMIM:619386
Spondyloenchondrodysplasia	Proteinuria, Pneumonia, Raynaud phenomenon, Chronic kidney disease, Vasculitis, Hematuria, Hypert...	ORPHA:1855
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Alzheimer Disease, Familial, 1	Neurofibrillary tangles	OMIM:104300
Gerstmann-Straussler Disease	Aggressive behavior, Neurofibrillary tangles, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:137440
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Recurrent bronchitis, Cardiomegaly, Congestive heart failure,...	OMIM:252500
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia	OMIM:247100
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Recurrent intrapulmonary hemorrhage, A...	ORPHA:900
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Olmsted Syndrome 1	Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis	OMIM:614594
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Acquired Generalized Lipodystrophy	Hepatomegaly, Generalized hyperpigmentation, Proteinuria, Abnormal cardiovascular system physiolo...	ORPHA:79086
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Neurofibrillary tangles	OMIM:605055
Pure Autonomic Failure	Abnormality of circulating catecholamine level	ORPHA:441
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Epistaxis, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalc...	ORPHA:79259
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia	OMIM:616576
Flynn-Aird Syndrome	Abnormality of the thyroid gland, EEG abnormality, Primary adrenal insufficiency, Type II diabete...	ORPHA:2047
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Alzheimer Disease 9, Susceptibility To	Neurofibrillary tangles, Disinhibition	OMIM:608907
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy	OMIM:618373
Johnson Neuroectodermal Syndrome	Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes	ORPHA:2316
Papa Syndrome	Proteinuria	ORPHA:69126
Bresek Syndrome	Neonatal death, Alopecia	ORPHA:85284
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles, Ataxia, Cerebral amyloid angiopathy	OMIM:117300
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Multiple bladder diverticula, Proteinuria, Heart murmur	ORPHA:2728
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism	OMIM:264350
Hypoadrenocorticism, Familial	Adrenal insufficiency, Adrenal hypoplasia	OMIM:240200
Combined Oxidative Phosphorylation Deficiency 34	Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy...	OMIM:617872
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circ...	OMIM:177735
Ddost-Cdg	Nephrotic range proteinuria	ORPHA:300536
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow	OMIM:261990
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail	OMIM:614219
Neuroleptic Malignant Syndrome	Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Myoglobinuria, Hypertension, ...	ORPHA:94093
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Myoglobinuria, Dilated cardiomyopathy, Pigmentary retinopathy, Arrhythmia	OMIM:609015
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Agel Amyloidosis	Proteinuria, Respiratory tract infection, Stage 5 chronic kidney disease, Cardiomyopathy, Arrhyth...	ORPHA:85448
Familial Mediterranean Fever	Pericarditis, Proteinuria, Myocardial infarction, Splenomegaly, Vasculitis, Nephrocalcinosis, Nep...	ORPHA:342
Cystinosis, Nephropathic	Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypopigmentation of ...	OMIM:219800
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Meacham Syndrome	Congenital alveolar dysplasia, Partial anomalous pulmonary venous return, Horseshoe kidney, Cardi...	OMIM:608978
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic...	OMIM:617729
Neonatal Adrenoleukodystrophy	EEG abnormality, Primary adrenal insufficiency	ORPHA:44
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia	OMIM:612079
Parkinson Disease 23, Autosomal Recessive Early-Onset	Neurofibrillary tangles, Lewy bodies, Akinesia	OMIM:616840
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H...	OMIM:308300
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Triple A Syndrome	Anterior hypopituitarism, Adrenal insufficiency	ORPHA:869
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Gaucher Disease Type 1	Hepatomegaly, Proteinuria, Splenomegaly, Abnormal pulmonary interstitial morphology, Hematuria, P...	ORPHA:77259
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Onychogry...	ORPHA:2309
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:713
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas...	OMIM:240300
Ichthyosis, Congenital, Autosomal Recessive 2	Abnormal hair morphology, Alopecia, Thin nail, Small nail	OMIM:242100
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair	OMIM:605676
X-Linked Adrenoleukodystrophy	Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level	ORPHA:43
Wagro Syndrome	Hypertension, Nephroblastoma, Proteinuria	OMIM:612469
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Proteinuria, Splenomegaly, Microscopic hematuria	ORPHA:77297
Zygomycosis	Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton...	ORPHA:73263
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair	OMIM:607626
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube...	ORPHA:90793
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Telangiectasia of the skin, Enlarged kidney	ORPHA:276280
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Abnormal lung morphology, Hematuria, ...	ORPHA:2035
Immunodeficiency 54	Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:609981
Gitelman Syndrome	Prolonged QT interval, Proteinuria, Urinary incontinence, Focal segmental glomerulosclerosis, Dec...	ORPHA:358
Kury-Isidor Syndrome	Alopecia, Hypertrichosis	OMIM:619762
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia	OMIM:615559
Igg4-Related Pachymeningitis	Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis	ORPHA:449427
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Chronic kidney di...	ORPHA:1018
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Tricuspid regurgitation, Ureteral hypoplasia, Abnormal l...	ORPHA:79328
Melas	Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Nephropathy, Dilated...	ORPHA:550
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Fragile nails	OMIM:242150
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Monosomy 18P	Alopecia, Low posterior hairline	ORPHA:1598
Chanarin-Dorfman Syndrome	Alopecia	OMIM:275630
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria	ORPHA:284426
Listeriosis	Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocarditis, Pyelonep...	ORPHA:533
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism	OMIM:615830
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic aciduria, Pancreatitis	OMIM:251000
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Cardiac arrest, Myoglobinuria, Ventricular tachycardia, Torsade de pointes, Hypertroph...	OMIM:616878
Ohdo Syndrome	Proteinuria	OMIM:249620
Niemann-Pick Disease, Type C1	Neurofibrillary tangles, Ataxia, Dysphagia, Gait ataxia	OMIM:257220
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes	OMIM:137940
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Abnormal left ventricular function, Dilated cardiomyopathy, Exercise-induced myoglobinuria	OMIM:607155
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Alopecia, Abnormal fingernail morphology	ORPHA:659
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Primary Progressive Freezing Gait	Restless legs, Dysphagia, Shuffling gait, Gait imbalance, Difficulty walking, Lewy bodies	ORPHA:75567
Sézary Syndrome	Alopecia, Nail dystrophy	ORPHA:3162
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr...	ORPHA:447
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Pigmentary ...	ORPHA:411629
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Ventricular tachycardia, Premature ventricular contraction,...	ORPHA:423
Achalasia-Addisonianism-Alacrima Syndrome	Adrenocorticotropin receptor defect, Decreased circulating cortisol level, Decreased circulating ...	OMIM:231550
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:86818
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles	OMIM:619132
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles, Aggressive behavior	OMIM:606688
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Proteinuria, Renal cyst, Cardiomyopathy, Nephrotic syndrome, Proximal...	OMIM:212065
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Proteinuria, Hypermelanotic macule, Hypertension, Pigmentary r...	ORPHA:90321
Xfe Progeroid Syndrome	Hypertension, Renal insufficiency, Proteinuria	OMIM:610965
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis	OMIM:614582
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Pigmentary r...	ORPHA:71212
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Nodular pattern on pulmonary H...	OMIM:233450
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela...	ORPHA:544488
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection	OMIM:158310
Insulin-Resistance Syndrome Type B	Proteinuria, Pneumonia, Skin rash, Osteoarthritis, Glycosuria, Nephritis	ORPHA:2298
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome, Lester's sign	OMIM:161200
Keutel Syndrome	Alopecia	ORPHA:85202
Lysinuric Protein Intolerance	Hepatomegaly, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Intraalveolar phospholi...	ORPHA:470
Wolman Disease	Adrenal insufficiency, Adrenal calcification	ORPHA:75233
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria, Hepatomegaly	OMIM:251900
Ogden Syndrome	Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Cardiomegaly, Pulmonary artery s...	OMIM:300855
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Postinfectious Vasculitis	Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, P...	ORPHA:48435
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Telangiectasia, Chordee, Micropenis	OMIM:300519
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Nephroblastoma, Cardiomegaly, Splenomegaly, Nephrolithiasis, ...	ORPHA:116
Glycogen Storage Disease Vii	Hematuria, Exercise-induced myoglobinuria	OMIM:232800
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Bilateral trilobed lung, Renal agenesis, Cardiomegaly, Horseshoe kidney, Total anom...	OMIM:306955
Malakoplakia	Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy	ORPHA:556
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia	OMIM:618282
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Nail dystrophy, Nail dysplasia	OMIM:175500
Niemann-Pick Disease, Type C2	Neurofibrillary tangles, Abnormal repetitive mannerisms, Ataxia, Dysphagia	OMIM:607625
Holocarboxylase Synthetase Deficiency	Alopecia	ORPHA:79242
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Hypospadias, Brushfield spots, Pigmentary retinopathy, Albuminuria, Aminoaciduria, ...	OMIM:214100
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyelashes, Absent eyebrow, Alopecia, Small nail	ORPHA:166035
Kawasaki Disease	Pericarditis, Proteinuria, Myocarditis, Congestive heart failure, Vasculitis, Recurrent pharyngit...	ORPHA:2331
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Alopecia, Abnormal toenail morphology	ORPHA:1005
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Progressive cerebellar ataxia, Ataxia, Lafora bodies	OMIM:616640
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension	ORPHA:536
Gaucher Disease Type 3	Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, Abnormal pulmonary int...	ORPHA:77261
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Hemop...	ORPHA:99827
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M...	ORPHA:90349
Pseudohypoaldosteronism, Type Iib	Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Pseudohypoaldosteronism	OMIM:614495
Hemochromatosis, Type 1	Alopecia	OMIM:235200
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria, Palpitations	OMIM:255125
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio...	ORPHA:508
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis	ORPHA:3130
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail	ORPHA:974
Wilson Disease	Hepatomegaly, Hyperphosphaturia, Proteinuria, Splenomegaly, Nephrolithiasis, Hypercalciuria, Rena...	OMIM:277900
Dementia, Lewy Body	Lewy bodies	OMIM:127750
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Hyp...	OMIM:609049
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Ridged fingernail, Abnormality of...	ORPHA:37
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia	ORPHA:412057
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95513
Relapsing Polychondritis	Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Atelectasis, Large v...	ORPHA:728
Ane Syndrome	Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h...	ORPHA:157954
Early-Onset Lafora Body Disease	Ataxia, Lafora bodies	ORPHA:324290
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair	OMIM:127550
Alzheimer Disease 4	Neurofibrillary tangles, Cerebral amyloid angiopathy	OMIM:606889
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re...	OMIM:122470
X-Linked Agammaglobulinemia	Alopecia	ORPHA:47
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G...	ORPHA:37042
Omenn Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Progressive Non-Fluent Aphasia	Neurofibrillary tangles, Restlessness, Lewy bodies	ORPHA:100070
Infection-Related Hemolytic Uremic Syndrome	Anuria, Pneumonia, Respiratory tract infection, Myocarditis, Oliguria, Hypertension, Pleuritis, P...	ORPHA:544482
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Mandibuloacral Dysplasia	Sparse hair, Alopecia, Hypoplastic fingernail	ORPHA:2457
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Heart murmur, Enuresis noct...	OMIM:615873
Parkinson Disease 1, Autosomal Dominant	Gait disturbance, Shuffling gait, Dysphagia, Loss of ambulation, Lewy bodies	OMIM:168601
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95512
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria	ORPHA:761
Dyskeratosis Congenita, Autosomal Dominant 3	Premature graying of hair, Alopecia, Nail dysplasia, Fine hair	OMIM:613990
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis	OMIM:181270
Congenital Disorder Of Glycosylation, Type Im	Sparse eyebrow, Alopecia, Sparse eyelashes	OMIM:610768
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Recurrent respiratory infections, Renal insufficiency, Proteinuria, Abnormal pulmonary interstiti...	OMIM:614748
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Mild proteinuria	OMIM:619147
Adrenomyeloneuropathy	Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Adrenal insufficiency, Abnorma...	ORPHA:139399
Imerslund-Gräsbeck Syndrome	Tachycardia, Proteinuria	ORPHA:35858
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney	ORPHA:459061
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ...	OMIM:301068
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Mild proteinuria	OMIM:619685
Short Syndrome	Sparse hair, Alopecia	ORPHA:3163
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Splenomegaly, Hemoglobinuria, Hepatomegaly	OMIM:194380
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology	ORPHA:1647
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Nail dystrophy, Nail dysplasia	OMIM:226600
Gapo Syndrome	Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes	ORPHA:2067
Pseudohypoaldosteronism, Type Iic	Pseudohypoaldosteronism, Decreased circulating renin level	OMIM:614492
Pseudohypoaldosteronism, Type Iie	Pseudohypoaldosteronism	OMIM:614496
Macs Syndrome	Sparse hair, Alopecia, Sparse eyebrow	OMIM:613075
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Neurodegeneration With Brain Iron Accumulation 4	Ataxia, Impulsivity, Gait disturbance, Loss of ambulation, Lewy bodies	OMIM:614298
Adrenoleukodystrophy	Alopecia	OMIM:300100
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail...	OMIM:106260
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Cardiomyopathy, Myoglobinuria	ORPHA:206549
Cardiac-Urogenital Syndrome	Tachycardia, Penoscrotal hypospadias, Partial anomalous pulmonary venous return, Pulmonary hypopl...	OMIM:618280
Corticosterone Methyloxidase Type Ii Deficiency	Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas...	OMIM:610600
Pearson Syndrome	Hepatomegaly, Renal insufficiency, Proteinuria, Cardiac conduction abnormality, Splenomegaly, Lac...	ORPHA:699
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,...	ORPHA:158687
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Recurrent respiratory infections, Proteinuria, Atelectasis, ...	ORPHA:534
Intermediate Uveitis	Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis	ORPHA:279914
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:268400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo...	ORPHA:2232
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Adrenal insufficiency	ORPHA:300298
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, Adrena...	ORPHA:199296
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:91355
Late-Onset Familial Hypoaldosteronism	Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r...	ORPHA:556037
Immunodeficiency, Common Variable, 10	Trachyonychia, Alopecia totalis	OMIM:615577
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Broad n...	ORPHA:464
Hereditary Late-Onset Parkinson Disease	Impulsivity, Akinesia, Agitation, Shuffling gait, Dysphagia, Lewy bodies	ORPHA:411602
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux	OMIM:619377
Mogs-Cdg	Alopecia, Fair hair, Long eyelashes, Hirsutism	ORPHA:79330
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Renal tubular acidosis, Cardiomyopathy, Myoglobinuria	ORPHA:264580
Waisman Syndrome	Lewy bodies, Shuffling gait	OMIM:311510
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia	ORPHA:169154
Johanson-Blizzard Syndrome	Alopecia, Abnormal hair pattern	ORPHA:2315
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre...	OMIM:230740
Beta-Thalassemia Intermedia	Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Hypothyroidism	ORPHA:231222
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal hair morphology, Alopecia, Nail dystrophy	ORPHA:90154
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Retinal pigment epithelial mottling...	OMIM:216400
Tubulointerstitial Nephritis And Uveitis Syndrome	Abnormality of retinal pigmentation, Renal neutrophilic tubulitis, Sterile pyuria, Renal tubular ...	ORPHA:91500
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia	OMIM:304790
Xp21 Deletion Syndrome	Primary adrenal insufficiency, Hypogonadotropic hypogonadism, Adrenal insufficiency	ORPHA:261476
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Anuria, Myocardial infarction, Hemoglobinuria, Hypertension, Acute kidney injury	ORPHA:90038
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Nail dystrophy	OMIM:620040
Peroxisome Biogenesis Disorder 2B	Adrenal insufficiency	OMIM:202370
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Low posterior hairline	ORPHA:2959
Early-Onset Familial Hypoaldosteronism	Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r...	ORPHA:556030
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis, Abnormality of skin pig...	OMIM:133540
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog...	ORPHA:1775
Familial Hypoaldosteronism	Decreased circulating aldosterone level, Adrenal insufficiency, Increased circulating renin level	ORPHA:427
Mandibuloacral Dysplasia With Type A Lipodystrophy	Absent eyelashes, Abnormal eyebrow morphology, Alopecia, Breast aplasia	ORPHA:90153
Lead Poisoning	Renal tubular dysfunction, Tubulointerstitial nephritis, Chronic kidney disease, Skin rash	ORPHA:330015
Cockayne Syndrome	Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate...	ORPHA:191
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Renal tubular dysfunction, Glycos...	ORPHA:99885
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Splenomegaly, Renal tubular acidosis, Myoglobinuria, Hepatomegaly	ORPHA:79240
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Hemoglobinuria	OMIM:300908
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Lewy bodies	OMIM:614251
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Liddle Syndrome 2	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618126
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Lewy bodies	OMIM:619133
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hypertension, Hydronephrosis	ORPHA:2750
Parkinson Disease 21	Lewy bodies	OMIM:616361
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body...	ORPHA:2108
Dominant Beta-Thalassemia	Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H...	ORPHA:231226
Parkinson Disease, Late-Onset	Lewy bodies, Short stepped shuffling gait, Dysphagia	OMIM:168600
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia	OMIM:163200
Holocarboxylase Synthetase Deficiency	Alopecia	OMIM:253270
Leigh Syndrome	Alopecia, Frontal hirsutism, Hypertrichosis	ORPHA:506
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy	OMIM:614008
Parkinson Disease 4, Autosomal Dominant	Lewy bodies	OMIM:605543
Supranuclear Palsy, Progressive, 2	Akinesia, Neurofibrillary tangles, Falls, Gait imbalance, Dysphagia	OMIM:609454
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Nephroblastoma, Splenomegaly, Abnormal lung lobation, Renal cyst, Dupl...	OMIM:312870
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Orofaciodigital Syndrome I	Hypertension, Proteinuria, Polycystic kidney dysplasia	OMIM:311200
Williams Syndrome	Hypoplasia of penis, Myocardial infarction, Cardiomegaly, Abnormal tubulointerstitial morphology,...	ORPHA:904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98754
Cholesteryl Ester Storage Disease	Adrenal insufficiency, Adrenal calcification	OMIM:278000
Liddle Syndrome 1	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:177200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentration, Increase...	OMIM:201810
Holoprosencephaly	Hypoplasia of penis, Proteinuria, Aplasia/Hypoplasia of the lungs, Abnormality of the urinary sys...	ORPHA:2162
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98793
Kearns-Sayre Syndrome	Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency	OMIM:530000
Autosomal Dominant Cutis Laxa	Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis	ORPHA:90348
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis...	OMIM:269200
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177904
Bardet-Biedl Syndrome 20	Micropenis, Proteinuria	OMIM:619471
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177901
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Adrenal insufficiency	OMIM:614863
Idiopathic Camptocormia	Abnormal synaptic transmission at the neuromuscular junction, Lewy bodies, Fatigable weakness of ...	ORPHA:1320
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Patchy alopecia, Alopecia universalis	OMIM:606367
Adrenomyodystrophy	Primary adrenal insufficiency	ORPHA:977
Mirage Syndrome	Hypergonadotropic hypogonadism, Adrenal hypoplasia, Adrenal insufficiency	OMIM:617053
Distal Deletion 13Q	Primary adrenal insufficiency	ORPHA:1590
Gaucher Disease	Hepatomegaly, Proteinuria, Splenomegaly, Abnormal pulmonary interstitial morphology, Hematuria, A...	ORPHA:355
Mixed Connective Tissue Disease	Alopecia	ORPHA:809
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Nail dystrophy, Alopecia, Abnormality of the periungual region, Alopecia totalis	ORPHA:293978
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti...	ORPHA:227990
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula...	ORPHA:289548
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis	OMIM:277440
Zellweger Syndrome	EEG abnormality, Primary adrenal insufficiency	ORPHA:912
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Beta-Thalassemia Major	Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H...	ORPHA:231214
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia	OMIM:210210
Addison Disease	Hypoparathyroidism, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplas...	ORPHA:85138
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Hirsutism	ORPHA:189427
Giant Cell Arteritis	Alopecia	ORPHA:397
Supranuclear Palsy, Progressive, 1	Akinesia, Neurofibrillary tangles, Falls, Gait imbalance, Dysphagia	OMIM:601104
Myasthenia Gravis	Hyperthyroidism, Abnormal thymus morphology, Primary adrenal insufficiency, Hashimoto thyroiditis	ORPHA:589
Celiac Disease, Susceptibility To, 1	Alopecia	OMIM:212750
Parkinsonian-Pyramidal Syndrome	Lewy bodies, Shuffling gait, Dysphagia	ORPHA:171695
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis	ORPHA:363618
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ...	OMIM:176270
Omenn Syndrome	Alopecia	OMIM:603554
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Hirsutism	ORPHA:90795
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Anon...	OMIM:263650
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti...	ORPHA:227982
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Tricuspid regurgitation, Proteinuria, Focal segmental glomerulosclerosis, Mitral re...	OMIM:619127
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Hypertrichosis	OMIM:263700
Encephalocraniocutaneous Lipomatosis	Alopecia	OMIM:613001
Immunodeficiency 7	Patchy alopecia	OMIM:615387
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp...	ORPHA:168558
Biotinidase Deficiency	Alopecia	OMIM:253260
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Caribbean Parkinsonism	Progressive gait ataxia, Lewy bodies	ORPHA:97355
Primary Sjögren Syndrome	Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph...	ORPHA:289390
Apparent Mineralocorticoid Excess	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:218030
Glycogen Storage Disease Xii	Splenomegaly, Hemoglobinuria, Hepatomegaly	OMIM:611881
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Abnormality of the nail	ORPHA:428
Poems Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi...	ORPHA:2905
Aymé-Gripp Syndrome	Pericarditis, Proteinuria	ORPHA:1272
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Onychogryposis	OMIM:248370
Parkinson Disease 8, Autosomal Dominant	Lewy bodies	OMIM:607060
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic...	ORPHA:69085
Neutral Lipid Storage Disease With Ichthyosis	Alopecia	ORPHA:98907
Rothmund-Thomson Syndrome	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysplasia, Sparse hair, Abno...	ORPHA:2909
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Stillbirth, Small nail	OMIM:308050
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Primary adrenal insufficiency, Increase...	ORPHA:95409
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis	OMIM:618775
Carney Triad	Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma	ORPHA:139411
Tbck-Related Intellectual Disability Syndrome	Hyperthyroidism, Decreased response to growth hormone stimulation test, EEG with generalized epil...	ORPHA:488632
Focal Dermal Hypoplasia	Alopecia, Abnormality of the nail	ORPHA:2092
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Hydronephrosis	OMIM:619269
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Von Hippel-Lindau Disease	Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom...	ORPHA:892
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79396
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Hypsarrhythmia	OMIM:616007
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Premature grayin...	ORPHA:79474
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ...	OMIM:309000
Biotinidase Deficiency	Alopecia	ORPHA:79241
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Adrenal insufficiency, Hypohidrosis	OMIM:615510
Colchicine Poisoning	Alopecia	ORPHA:31824
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia	ORPHA:536532
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
46,Xy Partial Gonadal Dysgenesis	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Inc...	ORPHA:251510
Juvenile Dermatomyositis	Alopecia	ORPHA:93672
X-Linked Cerebral Adrenoleukodystrophy	Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency	ORPHA:139396
Autosomal Recessive Robinow Syndrome	Alopecia, Long eyelashes, Fingernail dysplasia	ORPHA:1507
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Premature graying of hai...	OMIM:305000
Rothmund-Thomson Syndrome Type 1	Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ...	ORPHA:221008
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Autosomal Dominant Robinow Syndrome	Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi...	ORPHA:3107
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Absent eyelashes, Atrichia...	OMIM:308205
Rothmund-Thomson Syndrome Type 2	Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ...	ORPHA:221016
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,...	ORPHA:2273
Myoclonic Epilepsy Of Lafora	Gait disturbance, Lafora bodies	OMIM:254780
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female...	ORPHA:90794
Lafora Disease	Inability to walk, Ataxia, Gait disturbance, Lafora bodies	ORPHA:501
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:264090
Adult-Onset Dystonia-Parkinsonism	Neurofibrillary tangles, Dysphagia	ORPHA:199351
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Cerebral hemorrhage	OMIM:616682
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hair-pulling, Synophrys	ORPHA:447997
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Adrenal insufficiency, Chronic pancreatitis	OMIM:307030
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Fair hair	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Fair hair	ORPHA:363958
D-Bifunctional Protein Deficiency	Decreased nerve conduction velocity, Primary adrenal insufficiency	OMIM:261515
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:218330
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Sparse body hair	ORPHA:548
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Paronychia, Nail dystrophy, Anonychia, Abnormality of the nail	ORPHA:79404
Sympathetic Ophthalmia	Alopecia, Poliosis	ORPHA:79098
Xeroderma Pigmentosum	Alopecia	ORPHA:910
Sarcoidosis	Renal insufficiency, Maculopapular exanthema, Hyperpigmentation of the skin, Erythema nodosum, Ne...	ORPHA:797
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Pneumonia, Renal tubular epithelial necrosis, Hematuria, Mode...	ORPHA:95455
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow	ORPHA:2636
Ectodermal Dysplasia-Skin Fragility Syndrome	Sparse hair, Nail dystrophy, Alopecia universalis	ORPHA:158668
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Recurrent respiratory infections, Moderate albuminuria	OMIM:614231
Intellectual Developmental Disorder, Autosomal Dominant 38	Hair-pulling	OMIM:616393
Monosomy 22Q13.3	Hypoplastic toenails, Hair-pulling, Long eyelashes, Thick eyebrow	ORPHA:48652
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Small nail	OMIM:100300
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Tubulointerstitial nephritis, Aminoaciduria, Lacticaciduria, Cholangitis	OMIM:124000
Steinert Myotonic Dystrophy	Early balding, Alopecia	ORPHA:273
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Membranoproliferative glomerulonephritis, Microscopic hematuria, Splenomegaly, Mode...	OMIM:619525
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv...	ORPHA:99413
Mosaic Monosomy X	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv...	ORPHA:99228
Monosomy X	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv...	ORPHA:99226
Turner Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Low posterior hairline, Hyperconv...	ORPHA:881
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Myositis, Thyroiditis, Keratoconjunctivitis sicca	ORPHA:79078
Woodhouse-Sakati Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia	OMIM:619321
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione...	OMIM:201750
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Loss of eyelashes, Patchy alopecia, Dystrophic fingernails, Dys...	ORPHA:740
Behcet Syndrome	Patchy alopecia	OMIM:109650
Lysosomal Acid Lipase Deficiency	Primary adrenal insufficiency, Adrenal calcification	ORPHA:275761
Ring Chromosome 13 Syndrome	Alopecia	ORPHA:96176
Kikuchi-Fujimoto Disease	Alopecia	ORPHA:50918
Chronic Graft Versus Host Disease	Alopecia, Onycholysis, Nail dystrophy	ORPHA:99921
Pallister-Hall Syndrome	Adrenal hypoplasia, Precocious puberty, Adrenocorticotropic hormone deficiency, Primary adrenal i...	ORPHA:672
Microphthalmia, Syndromic 2	Hypothyroidism, Adrenal insufficiency	OMIM:300166
Pmm2-Cdg	Pericarditis, Angina pectoris, Proteinuria, Intracranial hemorrhage, Nephrotic syndrome, Multiple...	ORPHA:79318
Viss Syndrome	Sparse scalp hair, Alopecia, Hirsutism	OMIM:619472
Acute Liver Failure	Adrenal insufficiency	ORPHA:90062
African Trypanosomiasis	Alopecia	ORPHA:3385
Orofaciodigital Syndrome Type 4	Primary adrenal insufficiency	ORPHA:2753
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling	OMIM:620330
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
Choreoacanthocytosis	Hair-pulling	ORPHA:2388
Vascular Ehlers-Danlos Syndrome	Abnormal eyelash morphology, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair tex...	ORPHA:286
Young-Onset Parkinson Disease	Restless legs, Agitation, Gait imbalance, Impulsivity	ORPHA:2828

Histopathology

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

There is no histopathology data for Lrrk2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lrrk2.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Lrrk2^{tm1.1(KOMP)Mbp}	PMC7263671
LRRK2 maintains mitochondrial homeostasis and regulates innate immune responses to Mycobacterium tuberculosis.	eLife (February 2020)	Lrrk2^{tm1.1(KOMP)Mbp}	PMC7159881
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Lrrk2^{tm1.1(KOMP)Mbp}	PMC6671969

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Lrrk2^{tm1.1(KOMP)Mbp}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice
Lrrk2^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Lrrk2^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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