Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
STIP1 homology and U-Box containing protein 1
Synonyms:
2310040B03Rik,  0610033N24Rik,  2210017D18Rik,  CHIP

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Stub1 mutations

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

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

The table below shows human diseases associated to Stub1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Stub1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Uridine-Cytidineuria
Elevated uridine in urine, Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Sensory ataxia, Ataxia OMIM:256860
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormality o... ORPHA:2843
Gordon Holmes Syndrome
Cerebral atrophy, Hypogonadotropic hypogonadism, Infertility, Cerebellar atrophy, Dementia, Ataxi... OMIM:212840
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Hyperprolinemia, Type Ii
Hyperprolinemia, Prolinuria, Hyperglycinuria, Hydroxyprolinuria OMIM:239510
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
Dibasic Amino Aciduria I
Ornithinuria, Dibasicaminoaciduria, Argininuria, Hyperlysinuria OMIM:222690
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Cognitive impairment, Cerebellar hypoplasia, Tremor, Unsteady gait, Spasticit... OMIM:615768
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Decreased glomerular filtration rate, Polyuria, Renal s... OMIM:613090
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cognitive impairment, Cerebellar vermis atrophy, Limb ataxia, Truncal ataxia, Difficulty walking,... ORPHA:363432
Saccharopinuria
Elevated circulating sacchoropine concentration, Saccharopinuria, Hyperlysinuria, Citrullinuria, ... OMIM:268700
Bartter Syndrome, Type 3
Impaired reabsorption of chloride, Hypokalemia, Increased circulating renin level, Polyuria, Rena... OMIM:607364
Threoninemia
Hyperthreoninuria, Hyperthreoninemia OMIM:273770
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Dementia, Mental deterioration, Ataxia, Abnormal cerebellum morphology, Emoti... OMIM:615362
Renal Glucosuria
Glycosuria, Enuresis nocturna, Polyuria, Polyphagia, Polydipsia OMIM:233100
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Dementia, Ataxia, Spasticity, Neurodegeneration, Premature... OMIM:615889
Spinocerebellar Ataxia 32
Infertility, Cognitive impairment, Cerebellar atrophy, Azoospermia, Ataxia, Testicular atrophy OMIM:613909
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Reduced renal corticomedullary differentiation, Hyponatremia, Hypochloremia, Decreas... OMIM:602522
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Carnosinemia
Carnosinuria OMIM:212200
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Cognitive impairment, Azoospermia, Testicular atrophy, Progressive cerebellar... ORPHA:276183
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Tiglic Acidemia
Aminoaciduria OMIM:275190
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Spastic gait, Somatic sensory dysfunction, Lower limb spasticity,... ORPHA:101010
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Cerebellar Ataxia And Albinism
Head tremor, Olivopontocerebellar atrophy, Ataxia OMIM:258300
Cystinuria
Cystinuria, Nephrolithiasis, Hyperlysinuria, Recurrent urinary tract infections, Renal insufficie... OMIM:220100
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Mental deterioration, Ataxia, Myoclonus, Tremor OMIM:616187
Phenylketonuria
Aminoaciduria ORPHA:716
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Abnormal pyramidal sign, Cognitive impairment, Action tremor, Parkinsonism, Cer... ORPHA:98762
Cerebellar Ataxia, Cayman Type
Intention tremor, Cerebellar hypoplasia, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal a... ORPHA:94122
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Cognitive impairment, Dementia, Motor deterioration, Mental deterioratio... ORPHA:79262
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Tremor OMIM:615945
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Memory impairment, Dementia, Progressive cerebellar ataxia, Postural tre... ORPHA:85292
Camptodactyly 1
Increased urinary taurine OMIM:114200
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebral atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia OMIM:615268
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:617769
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Parkinsonism, Dementia, Ataxia, Abnormal cerebellum morphology, Increased neuronal autofluorescen... OMIM:162350
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cognitive impairment, Cerebellar hypoplasia, Ataxia, Truncal ataxia OMIM:617584
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Cognitive impairment, Dystonia, Dysmetria, Cerebellar atrophy, Mental de... OMIM:617145
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait OMIM:616410
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebral atrophy, Cerebellar atrophy, Mental deterioration, Ataxia, Progressive neurologic deteri... OMIM:613925
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Dicarboxylic Aminoaciduria
Aminoaciduria, Nephrolithiasis, Aspartic aciduria OMIM:222730
Dentatorubral-Pallidoluysian Atrophy
Abnormal pyramidal sign, Choreoathetosis, Dementia, Ataxia, Chorea, Atrophy of the dentate nucleu... OMIM:125370
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Spinocerebellar Ataxia Type 23
Dysmetria, Impaired proprioception, Gait ataxia, Progressive cerebellar ataxia, Impaired distal v... ORPHA:101108
Spinocerebellar Ataxia 12
Cerebellar atrophy, Action tremor, Parkinsonism, Dysmetria, Axial dystonia, Anxiety, Dementia, He... OMIM:604326
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Increased urinary taurine OMIM:237400
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Parkinsonism, Dystonia, Memory impairment, Dysmetria, Bradykinesia, Ment... OMIM:618317
Senior-Loken Syndrome 1
Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:266900
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Parkinsonism, Cerebellar atrophy, Resting tremor, Impaired vibratory sen... OMIM:617225
Spinocerebellar Ataxia 38
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:615957
Ataxia-Tapetoretinal Degeneration Syndrome
Cognitive impairment, Aplasia/Hypoplasia of the cerebellum, Ataxia, Gait disturbance ORPHA:1178
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Progressive cerebella... ORPHA:284332
Spinocerebellar Ataxia 19
Cerebellar atrophy, Cognitive impairment, Cogwheel rigidity, Progressive cerebellar ataxia, Gait ... OMIM:607346
Diaminopentanuria
Cystinuria, Hyperlysinuria OMIM:222350
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:117210
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Intention tremor, Lower limb spasticity, ... OMIM:616948
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Nephrocalcinosis, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypochloremia,... OMIM:601678
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Cognitive impairment, Decreased testicular size, Abnormal sperm morphology, Cerebell... ORPHA:320391
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Memory impairment, Focal dystonia, Mental deterioration, Gait atax... OMIM:605361
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Cognitive impairment, Dystonia, Ataxia, Tetraplegia, Oculomotor apraxia OMIM:616267
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Nephrocalcinosis, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypochloremia,... OMIM:241200
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Aminoaciduria, Increased ... OMIM:603358
Spinocerebellar Ataxia 35
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski si... OMIM:613908
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Tort... ORPHA:276193
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Diffuse cerebellar atrophy, Cogwheel rigi... ORPHA:363710
Spinocerebellar Ataxia Type 14
Cognitive impairment, Somatic sensory dysfunction, Cerebellar vermis atrophy, Gait ataxia, Progre... ORPHA:98763
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia, Renal phosphate wasting OMIM:241519
Homocarnosinosis
Carnosinuria OMIM:236130
Spinocerebellar Ataxia Type 17
Atrophy/Degeneration affecting the brainstem, Abnormal pyramidal sign, Parkinsonism, Dystonia, Ce... ORPHA:98759
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Elevated circulating creatinine concentration, Polyuria, Renal insuffici... OMIM:619468
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Gait at... ORPHA:423275
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia, Death in childhood OMIM:200900
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Central hypothyroidism, Cerebellar hypoplasia, Ataxia, Hypogonadism OMIM:616113
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Cognitive impairment, Dystonia, Dysmetria, ... OMIM:615157
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Dysdiad... OMIM:616053
Myoclonus, Familial, 1
Frequent falls, Falls, Ataxia, Myoclonus OMIM:614937
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Cognitive impairment, Dystonia, Memory impairment, Parkinsonism, Anxiety, Ataxia, Upper motor neu... ORPHA:401901
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hyperammonemia, Hypoargininemia, Episodic ammonia intoxication ORPHA:147
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test OMIM:229100
Spinocerebellar Ataxia 17
Cerebellar atrophy, Dysmetria, Dystonia, Parkinsonism, Intention tremor, Apraxia, Dementia, Brady... OMIM:607136
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Action tremor, Intention tremor, Spastic dysarthria, Cerebellar hypoplasia, Unste... ORPHA:314978
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Intention tremor, Ataxia, Rigidity, Myoclonus, Cerebellar vermis hypoplasia OMIM:618876
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Dysmetria, Motor deterioration, Ataxia, Increased neuronal autofluorescent li... OMIM:256731
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Cognitive impairment, Dystonia, Gait ataxia, Spasticity, Cerebral ... OMIM:611390
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hyperprolinemia, Hydroxyprolinuria OMIM:239500
Progressive Myoclonic Epilepsy Type 1
Intention tremor, Dementia, Ataxia, Limb ataxia, Morning myoclonic jerks, Myoclonus ORPHA:308
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Dysmetria, Cognitive impairment, Intention tremor, Gait ataxia, Spasticity, D... OMIM:615386
Spastic Paraplegia 26, Autosomal Recessive
Dysmetria, Dystonia, Frequent falls, Spastic gait, Decreased serum testosterone concentration, Sp... OMIM:609195
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Gait ataxia, Spasticity, Clumsiness OMIM:608029
Senior-Loken Syndrome 4
Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:606996
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Gait ataxia, Neur... OMIM:610245
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dysmetria, Dystonia, Parkinsonism, Anxiety, Mental deterioration, Ataxia, Gai... OMIM:618093
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Intention tremor, Fasciculations, Gait ataxia, Limb ataxia, Trunca... OMIM:613728
Valinemia
Valinuria, Hypervalinemia OMIM:277100
Medullary Sponge Kidney
Hypercalciuria, Nephrolithiasis, Hematuria, Distal renal tubular acidosis ORPHA:1309
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Cognitive impairment, Intention tremor, Cerebellar vermis atrophy,... ORPHA:208513
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Amenorrhea, Anxiety, Ataxia, Cerebral cortical atrophy, Premature ovarian ins... OMIM:619425
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Cerebellar hypoplasia, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Juvenile Huntington Disease
Cerebellar atrophy, Dystonia, Cerebellar vermis atrophy, Dementia, Bradykinesia, Ataxia, Progress... ORPHA:248111
Spinocerebellar Ataxia 5
Incoordination, Cerebellar atrophy, Dysmetria, Cognitive impairment, Impaired vibratory sensation... OMIM:600224
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Prolinuria OMIM:260005
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Cognitive impairment, Spastic gait, Cerebellar atrophy, Ataxia, Unsteady... OMIM:616795
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia, Hydronephrosis, Hypokalemia, Polyuria OMIM:304900
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Memory impairment, Akinesia, Aggressive behavior, Gait ataxia, L... ORPHA:98764
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Cerebellar atrophy, Isometric tremor, Intention tremor, ... ORPHA:101110
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Galactosuria OMIM:230350
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Cognitive impairment, Dystonia, Dysmetria, Myoclonic spasms... ORPHA:79263
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Abnormal pyramidal sign, Parkinsonism, Dystonia, Cerebellar atrophy, Mental det... OMIM:617672
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Polyuria, Medullary nephrocalcinosis, Hypophosph... OMIM:616963
Leukodystrophy, Hypomyelinating, 21
Tetraparesis, Hypogonadotropic hypogonadism, Cerebellar atrophy, Dystonia, Cryptorchidism, Mental... OMIM:619310
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Spastic tetraparesis, Hypertonia, Cerebellar atrophy, Fasciculations, Lo... OMIM:618598
Behr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, T... OMIM:210000
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dysmetria, Cognitive impairment, Dilated fourth ventricle, Cerebellar vermis ... ORPHA:1170
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pons morphology, Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Impaired vibrat... ORPHA:98
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Macular Dystrophy, Retinal, 1, North Carolina Type
Generalized aminoaciduria OMIM:136550
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria OMIM:238750
Spinocerebellar Ataxia 27
Cerebellar atrophy, Memory impairment, Impaired vibratory sensation, Head tremor, Ataxia, Gait at... OMIM:609307
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Cerebellar atrophy, Intention tremor, Ataxia, Spinocerebellar atro... OMIM:215470
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Cerebellar hypoplasia, Ataxia, Unsteady gait, Gait ataxia, Spasticity,... OMIM:213200
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
East Syndrome
Hypokalemia, Increased circulating renin level, Polydipsia, Enuresis, Renal salt wasting, Salt cr... ORPHA:199343
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titu... OMIM:611302
Hartnup Disorder
Neutral hyperaminoaciduria OMIM:234500
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Spastic gait, Dystonia, Spastic paraplegia, Ataxia, Lower limb spasticity, Im... OMIM:607565
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cere... ORPHA:284324
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Spastic tetraparesis, Dysmetria, Dystonia, Cerebell... OMIM:612319
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Carnosinuria OMIM:309930
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Gait ataxia, Babinski sign, Limb ataxia... OMIM:609270
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Dysmetria, Decreased circulating follicle stimulating hormone conc... OMIM:619761
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hypercalciuria, Polyuria, Decreased circulating renin level, Polydipsia OMIM:613677
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Renal potassium wasting, Hypomag... ORPHA:564178
Cystathioninuria
Cystathioninuria, Cystathioninemia, Nephrolithiasis ORPHA:212
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairme... OMIM:617633
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism, Action tremor, Impotence, Diffuse cerebral atrophy, Premature ovarian insufficien... OMIM:300623
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating N,N-dimethylglycine conc... OMIM:605850
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Abnormal pyramidal sign, Decreased circulating follicle stimulatin... ORPHA:453533
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Memory impairment, Bradykinesia, Mental deterior... OMIM:213600
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria ORPHA:95626
Gerstmann-Straussler Disease
Neurofibrillary tangles, Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidi... OMIM:137440
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Cognitive impairment, Dystonia, Choreoathetosis, Ataxia, Irritability, Tremor OMIM:612126
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hematuria, Aminoaciduria, Renal insufficiency, Hyperoxaluria, Calcium oxalate n... OMIM:260000
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Cognitive impairment, Dilated fourth ventricle, Cerebellar cyst, Inferior c... ORPHA:370022
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Hyperphosphaturia, Proteinuria OMIM:615605
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Glycosuria, Hypercalciuria, Proximal tubulopathy, Renal insufficiency,... OMIM:613388
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Lower ... ORPHA:98811
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Cerebellar vermis atrophy, Diffuse cerebellar atrophy, Gait ataxia, ... OMIM:117360
Spinocerebellar Ataxia 21
Cerebellar atrophy, Cognitive impairment, Dystonia, Parkinsonism, Intention tremor, Mental deteri... OMIM:607454
Hydroxykynureninuria
Aminoaciduria, Renal tubular dysfunction OMIM:236800
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Cln5 Disease
Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the central nervous system, Anxiety... ORPHA:228360
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Abnormal pyramidal sign, Cognitive impairment, Cerebellar atrophy, Limb dystonia, Truncal ataxia,... OMIM:617560
Ochoa Syndrome
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal insufficiency, Po... ORPHA:2704
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, R... OMIM:134600
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Cognitive impairment, Dystonia, Choreoathetosis, Dementia, Mental deteriorati... OMIM:208920
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Dilated fourth ventricle, Retrocerebellar... OMIM:614831
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Spinocerebellar Ataxia Type 21
Cognitive impairment, Cerebellar vermis atrophy, Akinesia, Gait ataxia, Progressive cerebellar at... ORPHA:98773
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dysmetria, Dystonia, Frequent falls, Dilated fourth ventricle, Intention trem... ORPHA:251347
Nephronophthisis 4
Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Cognitive impairment, Dystonia, Spastic paraparesis, Ataxia, Spast... OMIM:614487
Saccharopinuria
Hyperlysinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperlysinuria, Elevated pla... ORPHA:3124
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Lewy bodies, Rigidity OMIM:614251
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300400
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Salt craving, Enuresis, Polyuria, Renal salt wast... OMIM:612780
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Ataxia, Gait ataxia, Distal sensory impairment, Spasticity, T... OMIM:616719
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Generalized amyotrophy, EMG: myopathic abnormalities, Limb muscle weakn... OMIM:609560
Parkinson Disease 21
Parkinsonism, Bradykinesia, Lewy bodies, Rigidity, Tremor OMIM:616361
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Nephrolithiasis, Hypercalciuria, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting OMIM:612286
Spinocerebellar Ataxia, Autosomal Recessive 18
Incoordination, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Ataxia, Gait ataxia, Tr... OMIM:616204
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Distal sensory impairment, Oculomotor apraxia OMIM:615217
Hypomagnesemia 2, Renal
Hypokalemia, Renal insufficiency, Renal magnesium wasting, Hypomagnesemia, Hypocalciuria OMIM:154020
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Alaninuria OMIM:202900
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level OMIM:619406
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Aminoaciduria, Myopathy, Hemolytic anemia, Reticulocytosis ORPHA:33574
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hypophosphatemia, Nephrolithiasis, Hyperphosphaturia OMIM:612287
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Histidinuria Due To A Renal Tubular Defect
Impaired histidine renal tubular absorption, Histidinuria OMIM:235830
Apparent Mineralocorticoid Excess
Hypokalemia, Nephrocalcinosis, Abnormal urine sodium concentration, Decreased circulating renin l... ORPHA:320
Spinocerebellar Ataxia 44
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Gait ataxia, Spasticity, Dysdiadochokinesis OMIM:617691
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia ORPHA:664
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Polyuria, Renal magnesium wasting, Renal potassium wasting, Hypomagnesemia OMIM:618314
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Abnormal pyramidal sign, Cognitive impairment, Dystonia, Neurodegeneration, Anx... ORPHA:309246
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Enuresis, Polyuria, Renal corticomedullary cysts, Polydipsia, Nep... OMIM:606995
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Infertility, Cognitive impairment, Hypothyroidism, Cerebellar hypoplasia, Oligomenorrhea, Ankle c... ORPHA:412057
Cystinosis
Hypokalemia, Hypothyroidism, Renal tubular dysfunction, Delayed puberty, Proteinuria, Nephrogenic... ORPHA:213
Central Diabetes Insipidus
Polydipsia, Hyponatremia, Nocturia ORPHA:178029
Nephrogenic Diabetes Insipidus
Hydroureter, Enuresis nocturna, Functional abnormality of the bladder, Hyposthenuria, Renal insuf... ORPHA:223
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria OMIM:612075
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Action tremor, Dystonia, Parkinsonism, Cerebellar atrophy, Global brain atrophy, Anxi... OMIM:619738
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Alzheimer Disease 2
Neurofibrillary tangles, Parkinsonism OMIM:104310
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal pyramidal sign, Neurofibrillary tangles, Parkinsonism, Resting tremor, Akinesia, Lewy bo... OMIM:616840
Spinocerebellar Ataxia 34
Abnormal pyramidal sign, Cerebellar atrophy, Intention tremor, Fasciculations, Ataxia, Gait ataxi... OMIM:133190
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Elevated circulating creatinine concentration, H... ORPHA:411634
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:614736
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Dystonia, Impaired vibratory sensation, Cerebellar vermis atrophy, Spastic dy... ORPHA:98760
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Dementia, Subcortical dementia, Bradykine... OMIM:606159
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypercalciuria, Polyuria, Primary hyperparathyroidism, Hyperphosphaturia, Splenome... OMIM:239200
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Poor coordination, Ataxia, Cogwheel rigidity, Limb ataxia, Slurred speech, Tr... ORPHA:98772
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Polycystic kidney dysplasia, Death in childhood, Aminoaciduria, Hypoplasia of the... OMIM:214110
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Dementia, Ataxia, Tremor OMIM:301840
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Hypophosphatemic rickets, Tubulointerstitial fibrosis, Aminoaciduria, St... OMIM:618913
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Intention tremor, Ataxia, Spasticity, Cerebral amyloid angiopathy OMIM:117300
Parkinson Disease 4, Autosomal Dominant
Lewy bodies, Parkinsonism, Weight loss OMIM:605543
Dentatorubral Pallidoluysian Atrophy
Cognitive impairment, Action tremor, Memory impairment, Dysmetria, Choreoathetosis, Impaired prop... ORPHA:101
Alzheimer Disease 3
Neurofibrillary tangles, Spastic tetraparesis, Apraxia, Babinski sign, Gait disturbance, Abnormal... OMIM:607822
Hypotonia-Cystinuria Syndrome
Polyphagia, Cystinuria, Nephrolithiasis ORPHA:163690
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Spastic tetraparesis, Paralysis, Dystonia, Abnormal pyramidal sign, Neurodegene... OMIM:272750
Helix Syndrome
Hypokalemia, Nephrolithiasis, Polyuria, Renal insufficiency, Polydipsia, Hypermagnesemia, Hypocal... OMIM:617671
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Galactosemia I
Hypergalactosemia, Aminoaciduria, Increased level of galactitol in plasma, Increased level of gal... OMIM:230400
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Titubation, Tremor OMIM:619405
Rowley-Rosenberg Syndrome
Aminoaciduria OMIM:268500
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Motor stereotypy, Micropenis, Anxiety, Upper limb spasticity, Tremor, Self-... ORPHA:457240
Spinocerebellar Ataxia 15
Cerebellar atrophy, Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalciuria, Renal tubular acidosis, Nephrocalcinosis, Hypercalcemia OMIM:239199
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Hypokalemia, Decreased circulating renin level, Increased urinary potassium ORPHA:231580
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Polydipsia, Hypokalemia ORPHA:251274
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia, Increased circulating renin level OMIM:610600
Huntington Disease-Like 3
Abnormal pyramidal sign, Dystonia, Caudate atrophy, Mental deterioration, Ataxia, Unsteady gait, ... OMIM:604802
Alzheimer Disease, Familial, 1
Neurofibrillary tangles, Parkinsonism OMIM:104300
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Parkinsonism, Dystonia, Abnormal lower motor neuron morphology, Neurodegenera... OMIM:614298
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia, Increased circulating renin level OMIM:203400
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperamylasemia, Elevated circulating creatine kinase concentration, Aminoaciduri... OMIM:619386
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Abnormal pyramidal sign, Abnormal cerebellum morphology, Hypoplasia of the ... ORPHA:101070
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Spastic Paraplegia 39, Autosomal Recessive
Progressive spastic paraplegia, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Gait dist... OMIM:612020
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Parkinsonism, Resting tremor, Memory impairment, Intention tremor, Shuffling gait, Dementia, Cere... ORPHA:247234
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypernatremia, Polyuria, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypernatremia, Polyuria, Megacystis OMIM:304800
Argininosuccinic Aciduria
Oroticaciduria, Hypoargininemia, Aminoaciduria, Hyperglutaminemia, Hyperammonemia ORPHA:23
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias OMIM:201910
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Stage 4 chronic kidney disease, Hyperuricemia, Crystalluria... ORPHA:411536
Early-Onset Lafora Body Disease
Ataxia, Spastic tetraparesis, Lafora bodies, Myoclonus ORPHA:324290
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypercalciuria, Poly... OMIM:300971
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia, Cerebellar atrophy, Ataxia, Gait ataxia, Limb ataxia, Positive Romberg sign OMIM:614575
Epilepsy, Progressive Myoclonic, 10
Spastic tetraplegia, Lafora bodies, Ataxia, Progressive cerebellar ataxia, Spasticity, Spastic at... OMIM:616640
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Acute ki... ORPHA:94088
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Hematuria, Dysuria, Abnormality of urine homeostasis, Abnormal renal physiology... ORPHA:93600
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Gait disturbance, Decreased ... ORPHA:481
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormal blood ion co... ORPHA:411629
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... ORPHA:2260
Chudley-Mccullough Syndrome
Cerebellar hypoplasia, Cerebellar dysplasia OMIM:604213
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Hyponatremia, Leukopenia, Proteinuria, Polyuria, Chronic kidney dise... OMIM:613845
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria... OMIM:601198
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism, Dysmetria, Parkinsonism, Memory impairment, Intention tremor, Inertia, Anxiety, D... ORPHA:93256
Waisman Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Bradykinesia, Cogwheel rigidity, Lewy bodies OMIM:311510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Gonadal dysgenesis OMIM:615041
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Dementia, Lewy Body
Lewy bodies, Parkinsonism OMIM:127750
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypercalciuria, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:2239
Stiff Person Spectrum Disorder
Hypothyroidism, Anxiety, Emotional lability, Rigidity, Diabetes mellitus, Difficulty walking, Exa... ORPHA:3198
Spinocerebellar Ataxia, Autosomal Recessive 11
Truncal ataxia, Cerebellar atrophy, Limb ataxia, Ataxia OMIM:614229
Proximal Renal Tubular Acidosis
Glycosuria, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bica... ORPHA:47159
Parkinson Disease 8, Autosomal Dominant
Parkinsonism, Resting tremor, Bradykinesia, Lewy bodies, Rigidity, Parkinsonism with favorable re... OMIM:607060
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Renal phosphate wasting OMIM:193100
Neurodegeneration With Brain Iron Accumulation 2B
Neurofibrillary tangles, Dysmetria, Intention tremor, Bradykinesia, Gait ataxia, Lewy bodies, Spa... OMIM:610217
Nephronophthisis 11
Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Renal tubular atrophy, Rena... OMIM:613550
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B... OMIM:603554
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
Distal Renal Tubular Acidosis
Hypokalemia, Nephrocalcinosis, Hypermagnesiuria, Renal cyst, Nephrolithiasis, Hypocitraturia, Hyp... ORPHA:18
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Tay-Sachs Disease
Dystonia, Global brain atrophy, Gait disturbance, Exaggerated startle response, Ankle clonus, Inc... ORPHA:845
Primary Progressive Freezing Gait
Frequent falls, Shuffling gait, Bradykinesia, Lewy bodies, Rigidity, Clonus, Postural tremor, Gai... ORPHA:75567
Early-Onset Autosomal Dominant Alzheimer Disease
Neurofibrillary tangles, Parkinsonism, Apraxia, Ataxia, Oculomotor apraxia, Myoclonus, Hypertonia ORPHA:1020
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Elevated circulating acylcarnitine concentration, Tubulointerstitial nephritis, R... ORPHA:228302
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Polydipsia, Enuresis, Polyuria, Nocturia, Salt cr... OMIM:263800
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Patent ductus arteriosus, Cryptorchidism, Hydronephrosis, Splenomegaly, ... OMIM:612541
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Hypouricemia, Aminoaciduria, Hypoph... OMIM:616026
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Infantile hypercalcemia, Hyperphosphaturia, Rena... ORPHA:99879
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Renal insufficiency OMIM:615986
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Cerebellar atrophy, Memory impairment, Dementia, Cataplexy, Ataxia, Spasticity OMIM:604121
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Hypercalciuria, Chron... OMIM:248190
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypokalemia, Hyperuricosuria, Hypercalciuria, Bicarbonatur... ORPHA:3337
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Cystinosis, Nephropathic
Glycosuria, Exocrine pancreatic insufficiency, Hypokalemia, Hypohidrosis, Proteinuria, Polyuria, ... OMIM:219800
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Proteinuria, Hypercalc... ORPHA:1652
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:264350
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar hypoplasia, Cerebellar dysplasia, Inability to walk OMIM:613155
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Renal tubular dysfunction, Hyperphosphaturia,... OMIM:227810
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Hyponatremia... OMIM:300200
Hypocalciuric Hypercalcemia, Familial, Type I
Nephrolithiasis, Hypercalcemia, Hypercalciuria, Hypermagnesemia, Hypocalciuria OMIM:145980
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Death in infancy, Thrombocytopenia, Anemia OMIM:614946
Hereditary Orotic Aciduria
Oroticaciduria, Abnormality of the ureter, Patent ductus arteriosus, Splenomegaly, Impaired T cel... ORPHA:30
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Elevated circulating creatinine concentration, Hemat... ORPHA:730
Hypocalciuric Hypercalcemia, Familial, Type Ii
Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithiasis, Hypercalc... OMIM:145981
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles, Abnormality of extrapyramidal motor function OMIM:608907
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Proteinuria, Renal interstitial amyloid deposits, ... ORPHA:85450
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism, Cerebellar dysplasia OMIM:250951
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar hypoplasia, Cerebellar dysplasia, Cerebellar vermis hypoplasia OMIM:616531
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Renal sodium wasting, Hyponatremia, Increased circulating renin level ORPHA:556037
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Cognitive impairment, Cerebellar cyst, Cerebellar hypoplasia, Hypoplasia of... OMIM:615181
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Agammaglobulinemia, Thrombocytosis, Autoimmune hemolytic anemia, Decreased circulat... OMIM:243150
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Testicular atrophy, Decreased fertility, Tremor OMIM:313200
Senior-Boichis Syndrome
Reduced renal corticomedullary differentiation, Abnormal renal insterstitial morphology, Renal hy... ORPHA:84081
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles OMIM:605055
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hydronephrosis, Renal hypoplasia, Aminoaciduria, Calcinosis, Dysphagia OMIM:617913
Ataxia-Telangiectasia
Elevated alpha-fetoprotein, T lymphocytopenia, Decreased circulating IgG level, Female hypogonadi... OMIM:208900
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Hyperphospha... OMIM:277900
Multiple System Atrophy 1, Susceptibility To
Cognitive impairment, Parkinsonism, Bradykinesia, Olivopontocerebellar atrophy, Ataxia, Impotence... OMIM:146500
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, Am... OMIM:220110
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Bardet-Biedl Syndrome 17
Renal cyst, Micropenis, Polyuria, Polydipsia, Stage 5 chronic kidney disease OMIM:615994
Myopathy With Extrapyramidal Signs
Cerebellar dysplasia, Frequent falls, Dystonia, Choreoathetosis, Ataxia, Clonus, Chorea, Clumsine... OMIM:615673
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Renal sodium wasting, Hyponatremia, Increased circulating renin level ORPHA:556030
D-Glyceric Aciduria
Aminoaciduria, Nonketotic hyperglycinemia OMIM:220120
Alzheimer Disease 4
Apraxia, Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Parkinsonism, Primary amenorrhea, Resting tremor, Bradykinesia, Testicular atrophy, Secondary ame... OMIM:157640
Poretti-Boltshauser Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Oculomotor apraxia, Cerebellar v... OMIM:615960
47,Xyy Syndrome
Cerebellar dysplasia, Varicocele, Cryptorchidism, Micropenis, Azoospermia, Increased serum testos... ORPHA:8
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Increased circulating renin level, Hyperkalemia, Renal... ORPHA:427
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalcemia, Hypercalciuria, Te... ORPHA:99880
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Oculogyric crisis, Blepharospasm, Athetosis, Limb hypertonia, Limb dystonia, Emo... OMIM:608643
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Spasticity, Exaggerated startle response OMIM:618367
Meningioma
Cognitive impairment, Decreased serum estradiol, Increased circulating prolactin concentration, I... ORPHA:2495
Familial Hyperaldosteronism Type I
Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism, Polydipsia, Adrenal hyperplas... ORPHA:403
Parathyroid Carcinoma
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalcemia, Parathyroid carcin... ORPHA:143
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Parkinsonism, Neurofibrillary tangles, Apraxia, Lewy bodies OMIM:607485
Parkinson Disease 1, Autosomal Dominant
Parkinsonism, Resting tremor, Shuffling gait, Bradykinesia, Lewy bodies, Rigidity, Gait disturban... OMIM:168601
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Hyperornithinemia ORPHA:414
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebell... OMIM:617751
Gitelman Syndrome
Hypokalemia, Proteinuria, Hashimoto thyroiditis, Iron deficiency anemia, Hypomagnesemia, Neoplasm... ORPHA:358
Syndromic Diarrhea
Hypothyroidism, Patent ductus arteriosus, Thrombocytosis, Renal hypoplasia, Splenomegaly, Abnorma... ORPHA:84064
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Hypophosphatemic rickets... OMIM:300554
Parkinsonian-Pyramidal Syndrome
Abnormal pyramidal sign, Parkinsonism, Shuffling gait, Intention tremor, Bradykinesia, Lewy bodie... ORPHA:171695
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Sandhoff Disease
Fasciculations, Ataxia, Impaired temperature sensation, Upper motor neuron dysfunction, Impotence... OMIM:268800
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Skeletal muscle atrophy, Splenomegaly, Increase... ORPHA:812
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Skeletal muscle steatosis, Protein... ORPHA:436271
Familial Hypocalciuric Hypercalcemia
Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnesemia, Hypocalce... ORPHA:405
Tay-Sachs Disease
Psychomotor deterioration, Dementia, Apathy, Exaggerated startle response, Hypertonia OMIM:272800
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Hyperaldosteronism, Nephrolithiasis, Polydipsia, Adrenal hyperplasia, Abnormal circu... ORPHA:369929
Fanconi-Bickel Syndrome
Glycosuria, Generalized aminoaciduria, Renal tubular acidosis, Nephrocalcinosis, Hypercalciuria, ... ORPHA:2088
Biliary Malformation With Renal Tubular Insufficiency
Glycosuria, Generalized aminoaciduria, Renal tubular dysfunction, Proteinuria, Conjugated hyperbi... OMIM:210550
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Hypocalciuric Hypercalcemia, Familial, Type Iii
Parathormone-independent increased renal tubular calcium reabsorption, Multiple small medullary r... OMIM:600740
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Hepatic peripo... OMIM:231680
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia, Renal phosphate wasting OMIM:612089
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Exaggerated star... ORPHA:320406
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Parkinson Disease, Late-Onset
Parkinsonism, Short stepped shuffling gait, Resting tremor, Bradykinesia, Lewy bodies, Rigidity, ... OMIM:168600
Niemann-Pick Disease, Type C1
Neurofibrillary tangles, Cataplexy, Ataxia, Gait ataxia, Spasticity OMIM:257220
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Wolfram Syndrome 1
Cerebral atrophy, Hypothyroidism, Diabetes insipidus, Ataxia, Testicular atrophy, Diabetes mellit... OMIM:222300
Lethal Congenital Contracture Syndrome 10
Torticollis, Hypoplasia of the thymus OMIM:617022
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Argininosuccinic aciduria, Hyperargininemia, Hypertriglyceridemia, Hy... OMIM:603471
Hereditary Late-Onset Parkinson Disease
Frequent falls, Parkinsonism, Resting tremor, Shuffling gait, Bradykinesia, Akinesia, Lewy bodies... ORPHA:411602
Adult-Onset Dystonia-Parkinsonism
Neurofibrillary tangles, Bradykinesia, Rigidity, Spasticity, Progressive extrapyramidal movement ... ORPHA:199351
Wolfram Syndrome
Diabetes insipidus, Dysuria, Anemia, Myopathy, Recurrent urinary tract infections, Abnormality of... ORPHA:3463
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Rigidity, Spasticity, Cerebral amyloid angiopathy, Tremor OMIM:176500
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Cryptorchidism, Aminoaciduria, Thiamine-responsive megaloblastic anemia, Di... OMIM:249270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Cerebellar cyst, Cerebellar hypoplasia, Dandy-Walker malformation, Hypoplas... OMIM:613153
Eec Syndrome
Hypohidrosis, Hydronephrosis, Hypospadias, Anterior hypopituitarism, Renal hypoplasia/aplasia, Hy... ORPHA:1896
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Horseshoe kidney, Renal Fanconi syndrome, Acute kidney injury, Hyperuricemia, Mul... ORPHA:93111
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal platelet function, Abnormal eosinophil morphology, ... ORPHA:906
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Elevated circulating creatine kinase concentration, Aminoaciduria, Methylmalonic aciduria, Methyl... OMIM:612073
Whipple Disease
Hypothyroidism, Myositis, Hyponatremia, Splenomegaly, Anemia, Polydipsia, Mediastinal lymphadenop... ORPHA:3452
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo... OMIM:619755
Developmental And Epileptic Encephalopathy 68
Cerebral cortical atrophy, Spasticity, Clonus, Exaggerated startle response, Myoclonus OMIM:618201
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Eosinophilia, Reduced red cell adenosine deaminase level, Decreased ... OMIM:102700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles OMIM:619132
Bartter Syndrome Type 4
Hypokalemia, Nephrocalcinosis, Hyponatremia, Hypochloremia, Acute kidney injury, Hypercalciuria, ... ORPHA:89938
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber atrophy, Type 2 muscle fiber predominance, Thymus hyperplasia, Type 1 muscle ... OMIM:619036
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes, Congenital diaphragmatic hernia ORPHA:563609
Brain-Lung-Thyroid Syndrome
Abnormality of the thyroid gland, Thyroid dysgenesis, Hypospadias, Megacystis, Congenital hypothy... ORPHA:209905
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Spastic paraplegia, Exaggerated startle response, Babinski sign, Ankle clonus OMIM:609541
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Hypothyroidism, Patent ductus arteriosus, Hydronephros... OMIM:188400
Thymic Aplasia
T lymphocytopenia, Hypothyroidism, Coombs-positive hemolytic anemia, Decreased proportion of naiv... ORPHA:83471
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Ketonuria, Aminoaciduria, Anemia, Neutropenia, Thrombocytopenia OMIM:614520
Supranuclear Palsy, Progressive, 2
Neurofibrillary tangles, Parkinsonism, Bradykinesia, Akinesia, Rigidity, Eyelid apraxia, Retrocol... OMIM:609454
Lesch-Nyhan Syndrome
Opisthotonus, Dystonia, Choreoathetosis, Self-injurious behavior, Testicular atrophy, Spasticity,... OMIM:300322
Stiff-Person Syndrome
Frequent falls, Opisthotonus, Myoclonic spasms, Anxiety, Rigidity, Diabetes mellitus, Exaggerated... OMIM:184850
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, ... ORPHA:361
22Q11.2 Deletion Syndrome
Cholelithiasis, Hypothyroidism, Patent ductus arteriosus, Cryptorchidism, Renal hypoplasia, Hypoc... ORPHA:567
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Puberty and gonadal disorders, Increased circulating free T3,... ORPHA:525731
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypokalemia, Nephrocalcinosis, Increased C-peptide level, Hypothyroidism, ... ORPHA:769
Niemann-Pick Disease, Type C2
Neurofibrillary tangles, Cataplexy, Spasticity, Ataxia OMIM:607625
Supranuclear Palsy, Progressive, 1
Neurofibrillary tangles, Parkinsonism, Bradykinesia, Akinesia, Rigidity, Eyelid apraxia, Retrocol... OMIM:601104
Asparagine Synthetase Deficiency
Cerebellar hypoplasia, Hypoplasia of the pons, Spastic tetraplegia, Exaggerated startle response OMIM:615574
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with diffuse ... ORPHA:79102
Treacher-Collins Syndrome
Patent ductus arteriosus, Cryptorchidism, Hypoplasia of penis, Hypoplasia of the thymus, Thyroid ... ORPHA:861
Addison Disease
Primary adrenal insufficiency, Hashimoto thyroiditis, Thymoma, Premature ovarian insufficiency, A... ORPHA:85138
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Hyponatr... ORPHA:90791
Enamel-Renal Syndrome
Nephrocalcinosis, Enuresis, Hypocalciuria, Nephropathy, Renal insufficiency, Impaired renal conce... ORPHA:1031
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Anxiety, Ataxia, Exaggerated startle response, Broad-based gait ORPHA:438216
Familial Cold Urticaria
Polydipsia ORPHA:47045
Septo-Optic Dysplasia Spectrum
Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Anterior pituitary hypoplasia... ORPHA:3157
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, Decreased circulating antib... OMIM:616084
Acute Adrenal Insufficiency
Primary adrenal insufficiency, Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increase... ORPHA:95409
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cerebellar dysplasia, Motor stereotypy, Cryptorchidism, Cerebellar hypoplasia, Diabetes mellitus,... ORPHA:500159
Lysinuric Protein Intolerance
Oroticaciduria, Proteinuria, Renal amyloidosis, Anemia, Membranous nephropathy, Pancreatitis, Dec... ORPHA:470
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level, Increased urinary potassium ORPHA:231625
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Panhypogammaglobulinemia, Aplasia of the thymus OMIM:602450
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Hypokalemia, Premature pubarche, Polycystic ... ORPHA:90795
Fructose Intolerance, Hereditary
Glycosuria, Hyperuricosuria, Bicarbonaturia, Proximal tubulopathy, Hyperphosphaturia, Hyperuricem... OMIM:229600
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal resorption, Nephrocalcinosis, Hypermagnesiuria, Hypercalciuria, Hypocalcemia, Hype... ORPHA:73224
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in adolescence, Death in childhood, Elevated circulating creatine kinase concentration, Ami... OMIM:619055
Lysinuric Protein Intolerance
Oroticaciduria, Increased circulating ferritin concentration, Leukopenia, Skeletal muscle atrophy... OMIM:222700
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Netherton Syndrome
Ectopic kidney, Hydronephrosis, Decreased circulating antibody level, Aminoaciduria, Increased ci... ORPHA:634
Argininosuccinic Aciduria
Oroticaciduria, Hypoargininemia, Aminoaciduria, Hyperglutaminemia, Episodic ammonia intoxication,... OMIM:207900
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Rhabdomyolysis, Tubulointerstitial nephritis, Ragged-red muscle fibers OMIM:124000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Hyperekplexia 3
Hypertonia, Exaggerated startle response OMIM:614618
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Aplasia of the thymus, Reduced delayed hypersensitivity, Lymphopenia, Abnorma... OMIM:242700
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Patent ductus arteriosus, Cryptorchidism, Hydronephrosis, Adrenal hypo... OMIM:214100
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypothyroidism, Hypogonadotropic hypogonadism, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508
Toxic Epidermal Necrolysis
Dysuria, Pancreatitis, Neutropenia, Anemia, Dysphagia, Renal insufficiency, Polydipsia, Abnormali... ORPHA:537
Autosomal Recessive Polycystic Kidney Disease
Oliguria, Enlarged kidney, Reduced renal corticomedullary differentiation, Increased serum bile a... ORPHA:731
Myotonic Dystrophy 1
Cholelithiasis, Cerebral atrophy, Hypogonadism, Testicular atrophy OMIM:160900
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Lewy bodies OMIM:619133
Hyperekplexia 2
Hypertonia, Myoclonus, Exaggerated startle response OMIM:614619
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal pyramidal sign, Cognitive impairment, Congenital hypothyroidism, Rigidity, Cerebral cort... OMIM:617527
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Diabetes insipidus, Dysuria, Hydronephrosis, Anemia, Renal insuffi... ORPHA:35687
Hyperekplexia-Epilepsy Syndrome
Hypertonia, Exaggerated startle response ORPHA:163985
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:226307
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Polydipsia, Anterior hypopituitarism, Increased circulating prolactin concent... ORPHA:91351
Fumarase Deficiency
Aminoaciduria, Hyperbilirubinemia OMIM:606812
Combined Immunodeficiency-Enteropathy Spectrum
Hashimoto thyroiditis, Autoimmune hemolytic anemia, Abnormality of the ductus choledochus, Hypopl... ORPHA:436252
Monosomy 22
Hepatosplenomegaly, Micropenis, Contractures of the large joints, Aplasia of the thymus, Hyperhid... ORPHA:96123
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Hyperekplexia 1
Hypertonia, Frequent falls, Myoclonus, Exaggerated startle response OMIM:149400
Myoclonic Epilepsy Of Lafora
Apraxia, Lafora bodies, Myoclonus, Gait disturbance OMIM:254780
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Hyperlipidemia, Hyponatremia, Central hypoth... ORPHA:293987
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Limb hypertonia, Cerebellar cortical atrophy, Rigidity, Exaggerated startle response, P... ORPHA:521426
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Hypernatriuria, Hyperactive renin-a... ORPHA:90794
Lowe Oculocerebrorenal Syndrome
Renal Fanconi syndrome, Bicarbonaturia, Proteinuria, Hypercholesterolemia, Cryptorchidism, Hyperp... OMIM:309000
Steinert Myotonic Dystrophy
Cognitive impairment, Ovarian carcinoma, Aggressive behavior, Impotence, Male hypogonadism, Diabe... ORPHA:273
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Dysmetria, Spastic tetraplegia, Cerebellar vermis hypoplasia, Limb hyperton... ORPHA:98889
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Lysosomal Acid Lipase Deficiency
Primary adrenal insufficiency, Hyponatremia, Hepatosplenomegaly, Vacuolated lymphocytes, Hypercho... ORPHA:275761
Kanzaki Disease
Aminoaciduria, Increased urinary O-linked sialopeptides OMIM:609242
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Alkaptonuria
Nephrolithiasis, Tendon rupture, Thickened Achilles tendon, Prostatitis, Aminoaciduria ORPHA:56
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal interstitial edema, Renal Fanconi syndrome, Elevated circulating creatinine concentration, ... ORPHA:91500
Truncus Arteriosus
Hypoplasia of the thymus, Adrenocortical abnormality, Patent ductus arteriosus, Right ventricular... ORPHA:3384
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Diabetes insipidus, Proteinuria, Cryptorchidism, Anemia, Death in infancy, Hyperaldo... ORPHA:534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cerebellar hypoplasia, Cerebellar cyst, Exaggerated startle response OMIM:253800
Interstitial Lung And Liver Disease
Hypothyroidism, Thrombocytosis, Anemia, Aminoaciduria, Hyperammonemia OMIM:615486
Lafora Disease
Inability to walk, Lafora bodies, Ataxia, Erratic myoclonus, Spasticity, Gait disturbance, Myoclonus ORPHA:501
X-Linked Intellectual Disability, Armfield Type
Patent ductus arteriosus, Cryptorchidism, Aminoaciduria, Organic aciduria, Galactosuria ORPHA:85276
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004