Gene Summary

Name:
transient receptor potential cation channel, subfamily M, member 7
Synonyms:
5033407O22Rik,  LTRPC7,  CHAK1,  TRP-PLIK,  2310022G15Rik,  CHAK,  Ltpr7,  4833414K03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to tooth bud stage Trpm7tm1b(KOMP)Wtsi HOM   E12.5 0.00
increased circulating alkaline phosphatase level Trpm7tm1b(KOMP)Wtsi HET Early adult 1.72×10-11
thrombocytosis Trpm7tm1b(KOMP)Wtsi HET Early adult 2.69×10-05
preweaning lethality, complete penetrance Trpm7tm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 50% (1 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 50% (1 of 2)
Skeletal muscle  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Adult LacZ

LacZ Images Wholemount

19 Images

Human diseases caused by Trpm7 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 Trpm7 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism OMIM:105500

The table below shows human diseases predicted to be associated to Trpm7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocythemia 2
Thrombocytosis OMIM:601977
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Generalized-onset seizure, Episodic hypokalemia, Nephrocalcinosis, Hypom... ORPHA:564178
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Thrombocythemia 3
Thrombocytosis OMIM:614521
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hypokalemia, Renal potassium wasting, Seizure, Generalized-onset seizure, Nephrocalcino... OMIM:618314
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
East Syndrome
Renal salt wasting, Hypokalemia, Seizure, Generalized-onset seizure, Enuresis, Increased circulat... ORPHA:199343
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Seizure, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting OMIM:154020
Hypomagnesemia 1, Intestinal
Hypocalcemia, Seizure, Hypomagnesemia OMIM:602014
Hypomagnesemia 4, Renal
Seizure, Hypomagnesemia OMIM:611718
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypomagnesiuria, Hypocalciuria, Reduced rat... ORPHA:405
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Elevated circulating creatine kinase concent... OMIM:160120
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Seizure, Nephrol... OMIM:601198
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... OMIM:618963
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Hypokalemia, Hypocalcemia, Seizure, Hyponatremia, Nephrocalcinosis, Hypomagnesemia OMIM:620152
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Seizure, Hypomagnesemia OMIM:616418
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypercalciuria, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:2239
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Dysdiadochokin... OMIM:612780
Hypomagnesemia 6, Renal
Hypomagnesemia, Impaired renal tubular reabsorption of magnesium OMIM:613882
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuria, Renal calc... OMIM:248190
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Autosomal Dominant Hypocalcemia
Writer's cramp, Cortical myoclonus, Fatigable weakness, Hypercalciuria, Hypocalcemia, Hypermagnes... ORPHA:428
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen,... OMIM:613845
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor, Elevated urinary 7-bi... OMIM:264070
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Oculogyric crisis, Hyperphenylalaninemia, Tremor, Cerebral palsy, Abnormal circulatin... ORPHA:1578
Gitelman Syndrome
Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Seizure, Enuresis, Increased circu... OMIM:263800
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Dystonia, Ataxia, Abno... OMIM:614561
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, Abnormal renal tubu... ORPHA:73224
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre... OMIM:248250
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Seizure, Tremor, Ataxia OMIM:213000
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Chronic diarrhea, Hyp... ORPHA:398063
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Elevated circulating creatine kinase concentration, Gait atax... ORPHA:309169
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Pancytopenia, Hepatosplenomegaly, Thromboc... OMIM:604416
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Neuroleptic Malignant Syndrome
Urinary incontinence, Oculogyric crisis, Myoglobinuria, Chorea, Extrapyramidal muscular rigidity,... ORPHA:94093
Neurodevelopmental Disorder With Language Delay And Seizures
Seizure, Hypomagnesemia OMIM:619908
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Episodic vomiting, Seizure, Tremor, Bilateral tonic-clonic sei... OMIM:612736
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, Renal potass... OMIM:601678
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Abnormal blood ion concentration, Psoriasiform dermatitis, Neutropenia, Hypocalcemi... ORPHA:37042
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Spasticity, Tremor, Focal motor seizure, Seizure,... ORPHA:599373
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Hypophosphatemic rickets, Anemia, Focal-onset seizure, Proximal t... OMIM:619743
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Urinary incontinence, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Seizure, Rigid... OMIM:213600
Colchicine Poisoning
Myocarditis, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Diarrhea, Leukocytosis,... ORPHA:31824
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem... ORPHA:18
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypersegmentation of neutrophil nuclei, Meg... OMIM:617780
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Pancreatitis, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia OMIM:145980
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Hypocalcemia, Diarrhea, Vomiting, Hypomagnesemia, Hematochezia, Xerostomia OMIM:175500
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Saccharopinuria
Elevated plasma citrulline, Cystinuria, Seizure, Tremor, Hypercystinemia, Hyperlysinemia, Gait at... ORPHA:3124
Immunodeficiency 27A
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia, Thrombocytosis, Histiocy... OMIM:209950
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Hyperprostaglandinuria, Hypokalemia, Hypercalciuria, Imp... ORPHA:89938
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca... OMIM:145981
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Anemia, Hypocalcemia, Chronic diarrhea, Decreased proportion of ... ORPHA:90362
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Myoclonic status epilepticus, Tremor, Elevated circulati... OMIM:614018
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Spasticity, Tremor, Seizure, Dystonia, Ataxia, Myoclonus, Abnormal pyramida... OMIM:615924
Thyrotoxic Periodic Paralysis
Hyperkalemia, Paralysis, Transient hypophosphatemia, Respiratory paralysis, Tetraplegia, Tremor, ... ORPHA:79102
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Seizure, Hypomagnesemia, Anemia OMIM:244460
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Atonic seizure, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera... OMIM:617831
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Generalized myoclonic seizure, Tremor, Atonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:612437
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Seizure, Hyperphenylalaninemia, Tremor, Dystonia, Dysphagia, Myoclonus, Choreoathetosis OMIM:261630
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Seizure, Tremor, Frequent falls OMIM:616921
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Dystonia, At... OMIM:618425
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, Renal potass... OMIM:241200
Cystathioninuria
Cystathioninuria, Seizure, Tremor, Nephrolithiasis, Cystathioninemia ORPHA:212
Orthostatic Hypotension 1
Seizure, Increased blood urea nitrogen, Hypomagnesemia, Nocturia, Elevated circulating dihydroxyp... OMIM:223360
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Urinary incontinence, Lower limb spasticity, Seizure, Tremor, Urinar... OMIM:600363
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Spinocerebellar Ataxia 43
Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Epilepsy, Progressive Myoclonic 7
Tremor, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:616187
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizure with visual features, Fo... OMIM:615400
Phenylketonuria
Lower limb spasticity, Seizure, Hyperphenylalaninemia, Tremor, Eczematoid dermatitis, Ataxia, Phe... ORPHA:716
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic sei... OMIM:618587
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Elevated circulating creatine kinase concentration OMIM:615048
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Seizure, Frequent falls, Gait ata... OMIM:607317
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca... OMIM:600740
Migraine, Familial Hemiplegic, 1
Seizure, Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Essential Thrombocythemia
Acute leukemia, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Abnorma... ORPHA:3318
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Inflammatory abnormality of the sk... ORPHA:94059
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Transient hyperphenylalaninemia, Restin... OMIM:128230
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Typical absence seizure, Myoclonic status epilep... ORPHA:2590
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Hypocalcemia, Decreased circulating antibody level, Hyponatremia,... OMIM:618183
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Seizure, Tremor, Reticulocytosis, Dystonia, Ataxia, Splenomegaly, Chor... OMIM:612126
Spinocerebellar Ataxia 37
Tremor, Ataxia, Dysphagia, Frequent falls OMIM:615945
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset... ORPHA:36387
Alpha-Methylacyl-Coa Racemase Deficiency
Increased circulating very long-chain fatty acid concentration, Focal-onset seizure, Spasticity, ... OMIM:614307
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Ataxia, Abnormal pyram... ORPHA:79262
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Heme Oxygenase 1 Deficiency
Thrombocytosis, Elevated circulating C-reactive protein concentration, Asplenia, Coombs-positive ... OMIM:614034
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Seizure, Tremor... OMIM:615362
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Diarrhea, Seizure, Vomiting, Nausea, Constipation, Hypophosphatem... ORPHA:469
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Tremor, Bilateral tonic-clonic seizure OMIM:601068
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Gitelman Syndrome
Urinary incontinence, Focal-onset seizure, Renal potassium wasting, Nocturia, Renal tubular acido... ORPHA:358
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Myoclonic seizure, Atonic seiz... OMIM:616421
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Seizure, Tremor OMIM:619561
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Cystinosis, Nephropathic
Generalized aminoaciduria, Hypophosphatemia, Dysphagia, Splenomegaly, Stage 5 chronic kidney dise... OMIM:219800
Primary Myelofibrosis
Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepatosplenomeg... ORPHA:824
Hyperphenylalaninemia, Bh4-Deficient, B
Decreased urinary biopterin level, Hyperkinetic movements, Limb hypertonia, Seizure, Hyperphenyla... OMIM:233910
Spinocerebellar Ataxia 48
Babinski sign, Urinary incontinence, Chorea, Tremor, Bilateral tonic-clonic seizure, Gait ataxia,... OMIM:618093
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Athetosis, Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:617106
Pearson Syndrome
Steatorrhea, Chronic diarrhea, Reticulocytosis, Ataxia, Hypophosphatemia, Dysphagia, Splenomegaly... ORPHA:699
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ... OMIM:616963
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia ORPHA:217012
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Focal-onset seizure, Oculogyric crisis, Seizure, Tremor, Bilateral... ORPHA:330050
Crigler-Najjar Syndrome Type 1
Seizure, Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure... OMIM:616366
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Tremor, Elevated circulating creatine kinase concentration, Aspiration pneum... ORPHA:90117
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Helix Syndrome
Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insufficiency, Xero... OMIM:617671
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle clonus, Spastic parapare... OMIM:616053
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Tongue fasciculations, Tremor, Generalized-onset seizure, Elevated... OMIM:159950
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia... ORPHA:216873
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... ORPHA:232
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Generalized myoclonic seizure, Myoclonic absence seizure, Tremor, Bilateral tonic-c... OMIM:617836
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Seizure, Craniofacial dystonia, Limb dystonia, Gait at... ORPHA:71517
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Lower limb spasticity, ... ORPHA:251282
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Tremor, Chorea ORPHA:494526
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis OMIM:226300
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Seizure, Hyperphenylalaninemia, Tremor, Rigidity, Dyst... OMIM:261640
Dravet Syndrome
Epilepsia partialis continua, Focal-onset seizure, Incoordination, Action tremor, Atypical absenc... ORPHA:33069
Hsd10 Disease
Seizure, Tremor, Rigidity, Ataxia, Dysphagia, Myoclonus, Spastic paraparesis, Elevated urinary 3-... ORPHA:391417
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Generalized-onset ... OMIM:300539
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Proximal tubulopathy, Increased serum prostaglandi... OMIM:241150
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Urocanic Aciduria
Abnormal circulating histidine concentration, Truncal ataxia, Urocanic aciduria, Gait ataxia, Act... ORPHA:210128
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tongue fasciculations, Tremor, Elevated circulating creatine kinase concentration... ORPHA:276435
Glutathionuria
Glutathionuria, Urinary incontinence, Dysdiadochokinesis, Tremor, Eczematoid dermatitis, Action t... OMIM:231950
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Seizure, Ataxia, Increased circulating renin level OMIM:619406
Neurodegeneration With Brain Iron Accumulation 7
Increased circulating very long-chain fatty acid concentration, Lower limb spasticity, Tremor, Dy... OMIM:617916
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Dystonia 28, Childhood-Onset
Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial dystonia, Dyst... OMIM:617284
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c... OMIM:620481
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Gast... OMIM:613135
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Apraxia, Spasticity, Tremor, Bilateral tonic-clonic seiz... OMIM:617810
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Dystonia, Myoclonus OMIM:619651
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Choreoath... OMIM:606159
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Hypermanganesemia With Dystonia 1
Bradykinesia, Increased total iron binding capacity, Abnormality of extrapyramidal motor function... OMIM:613280
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Tremor, Bilateral tonic-clonic seizure, Gait ataxia, Tonic seizure... OMIM:618090
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, Seizure, Generalized-onset seizure, Myo... ORPHA:79263
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Vomiting, Nephrocalcinosis, Hypercalcemia OMIM:239199
Spinocerebellar Ataxia Type 37
Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Limb dysmetria ORPHA:363710
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Urinary incontinence, Gastroparesis, Truncal ataxia, Spa... OMIM:618877
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Hyperkalemia, Vomiting, Hyponatremia, Increased circulating renin level OMIM:203400
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Vomiting, Nephrocalcinosis... OMIM:143880
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism, Dysphagia OMIM:128235
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Ankle clonus OMIM:615768
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign, Genera... OMIM:612016
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Juvenile Nephropathic Cystinosis
Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch... ORPHA:411634
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Leukopenia, Lymphopenia, Thrombocy... OMIM:615934
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus ORPHA:98763
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia, Infantile spasms OMIM:278780
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Hyperalaninemia, Gait ataxia, Bilatera... ORPHA:254881
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Neuronal Intranuclear Inclusion Disease
Urinary incontinence, Episodic vomiting, Seizure, Tremor, Rigidity, Ataxia OMIM:603472
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Seizure, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Focal motor seizure, Seizure, Bilateral tonic-clonic seizure, Rigid... OMIM:619911
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Hyperkalemia, Diarrhea, Vomiting, Hyponatremia OMIM:264350
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Elevated circulating creatine kinase concentration, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Spasticity, Tremor, Seizure, Dystonia, Dysphagia, Ankle clonus, Abnorma... OMIM:617435
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal obstruction, Decreased HDL cholesterol concentration, Gastrointestinal hemorrhage, Dec... ORPHA:85450
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypocystinemia, Decreased circulating antibody level, Tremor, Decreased serum creatinine, Hypohom... OMIM:617744
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Hyperphosphaturia, Hypophosphatemia OMIM:612286
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
X-Linked Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with favorable response to d... ORPHA:53351
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech OMIM:609161
Mercury Poisoning
Acute kidney injury, Episodic vomiting, Hypokalemia, Seizure, Tremor, Nausea, Dystonia, Interstit... ORPHA:330021
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Normochromic anemia, Generalized-onset seizure, Nephropathy, Focal segmental glom... OMIM:254900
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Glomerular sclerosis, Recurrent myoglobinuria, Episodic vomiting, Right hemiplegia, Pancy... OMIM:607426
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Elevated urinary homovanillic acid, Incoordination, Dysdiadochokinesis, Tremor... OMIM:618049
Aicardi-Goutieres Syndrome 6
Tremor, Chilblains, Rigidity, Dystonia, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Ataxia, Myo... OMIM:619028
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus... OMIM:612953
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Oromandibular dystonia, Generalized dystonia, Scissor gait, Spastici... OMIM:617013
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Photosensitive myoclonic seizure, Anemia, Tremor, Nephrotic syndrome, Proteinuria, Ne... ORPHA:1192
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Urinary incontinence, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait ataxia, D... OMIM:617145
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Hypercalciuria, Vomiting, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Ataxia, Splenomegaly, Lymphopenia, Increased circulating guanosine concentration, Tetr... OMIM:613179
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Seizure, Cogwheel rigidity... ORPHA:363654
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Spasticity, Tremor, Seizure, Poor motor coordination, Limb dystonia, Gait a... ORPHA:363400
Fanconi Renotubular Syndrome 2
Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca... OMIM:613388
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Periodic paralysis, Hand tremor, Hemolytic anemia OMIM:609153
Non-Functioning Paraganglioma
Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Tremor, Voc... ORPHA:94080
Aceruloplasminemia
Limb ataxia, Hypochromic microcytic anemia, Decreased circulating ceruloplasmin concentration, De... ORPHA:48818
Sneddon Syndrome
Chorea, Seizure, Tremor, Hemiparesis, Nephropathy ORPHA:820
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph... OMIM:134600
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Myopathy With Extrapyramidal Signs
Hypervalinemia, Abnormality of extrapyramidal motor function, Chorea, Seizure, Tremor, Elevated c... OMIM:615673
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Urinary incontinence, Tremor, Urinary urgency, Ataxia, Spastic ataxi... OMIM:616795
Primary Dystonia, Dyt2 Type
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener... ORPHA:99657
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Babinski sign, Oculomotor apraxia, Elevated circulating creatine kinase concentration, Urinary bl... ORPHA:64753
Beta-Ketothiolase Deficiency
Hyperammonemia, Thrombocytosis, Leukocytosis, Hyperuricemia ORPHA:134
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Nocturnal seizures, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Bi... OMIM:619725
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Dysphagia OMIM:313200
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Tremor, Bilateral toni... OMIM:612164
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Hyponatremia, Hyperkalemia, Seizure OMIM:614736
Developmental And Epileptic Encephalopathy 46
Limb hypertonia, Seizure, Tremor, Generalized-onset seizure, Dysphagia OMIM:617162
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting OMIM:612287
Autosomal Spastic Paraplegia Type 58
Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba... ORPHA:397946
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:613090
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Hyperbilirubinemia, Tremor, Reticulocytosis, Decreased hemoglobin concentration, A... ORPHA:713
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Seizure, Tremor, Cerebral palsy, Rigidity, Dyst... ORPHA:70594
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res... OMIM:606693
Atypical Rett Syndrome
Pill-rolling tremor, Generalized myoclonic seizure, Neonatal seizure, Apraxia, Spasticity, Tremor... ORPHA:3095
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Seizure, Tremor, Spastic paraplegia, Febrile seizure (within the age range of 3 mo... ORPHA:477673
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Oculomotor apraxia, Incoordination, Seizure, Tremor, Hydronephrosis, Ataxia, Ch... OMIM:618060
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Tremor, Gait ataxia, Dysmetria OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Tremor, Seizure, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysmetria OMIM:614831
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Spontaneous Periodic Hypothermia
Diarrhea, Skin rash, Tremor, Seizure, Ataxia ORPHA:29822
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Anemia, Seizure, Spastic tetraparesis, Vomiting, Glycosuria, Hyperphosphaturia, Ataxia, Proteinur... ORPHA:436271
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Seizure, Rigidity, Dystonia, Ataxia, Choreoathetosis OMIM:612438
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Hyperglycinemia, Methylmalonic acidemia, Neutropeni... OMIM:251100
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Chorea, Seizure, Craniofacial dystonia, Frequent f... OMIM:607483
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Thrombocytosis, Elevated circulating C-reactive protein concentration, Iron deficiency anemia, Ly... OMIM:301074
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Increased serum pyruvate, Hyperalaninemia, Tremor, Episodic ataxia, Dystonia, Myoclonus,... OMIM:312170
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Neuromuscu... ORPHA:240085
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Vomiting, Hyponatremia, Increased circulating renin level, Renal sodium wasting ORPHA:556037
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Babinski sign, Urinary incontinence, Focal-onset seizure, Progressive extrapyramida... ORPHA:225147
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
3-Hydroxy-3-Methylglutaric Aciduria
Anemia, Hyperuricemia, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytosis ORPHA:20
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism... OMIM:619738
Familial Isolated Hyperparathyroidism
Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia, Renal insuf... ORPHA:99879
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Focal motor seizure, Seizure, Dystonia, Ataxia, Abnormal pyramidal sign ORPHA:542310
4H Leukodystrophy
Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper motor neuron dysf... ORPHA:289494
Classic Phenylketonuria
Hypertonia, Paraplegia, Seizure, Hyperphenylalaninemia, Tremor, Eczematoid dermatitis, Hemiplegia ORPHA:79254
Dent Disease 1
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300009
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset, Tremor, G... OMIM:619092
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Elevated circulating creatine ki... OMIM:208920
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Thrombocytosis, Iron deficiency anemia, Macrocytic anemia OMIM:212750
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Thrombocytosis, Abnormal erythrocyte morphology, Impaired platelet a... ORPHA:324636
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Hypophosphatemic rickets, Generalized aminoacid... ORPHA:3337
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti... OMIM:607364
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Increased serum pyruvate, Titubation, Elevated circulating creatine kinase concentration,... OMIM:619405
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Elevated circulating creatinine concentration, Anemia, Decreased glomerular f... OMIM:174000
Hyperlysinemia
Argininuria, Neck hypertonia, Decreased urine alpha-ketoglutarate concentration, Spastic tetrapar... ORPHA:2203
Interstitial Lung And Liver Disease
Hyperammonemia, Intraalveolar phospholipid accumulation, Anemia, Thrombocytosis OMIM:615486
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Oculomotor apraxia, Spasticity, Tremor, Seizure, Bilateral tonic-clonic seizure, Gait ataxia, Sta... ORPHA:529665
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Spasticity, Tremor, Seizure, Dystonia, Ataxia, Dysphagia, Postural tremor, Dysmetria OMIM:607694
Hypophosphatasia, Infantile
Anemia, Hypercalciuria, Seizure, Elevated plasma pyrophosphate, Elevated urine pyrophosphate, Con... OMIM:241500
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Vomiting, Hyponatremia, Increased circulating renin level, Renal sodium wasting ORPHA:556030
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:213200
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypergalactosemia, Increased mean platelet volume, Increased cir... OMIM:222470
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Chronic otitis media, Recurrent otitis media, Unilateral renal agenesis, Hypocalcemia, Pelvic kid... OMIM:619503
Polycythemia Vera
Acute leukemia, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis ORPHA:729
Ddost-Cdg
Gastroesophageal reflux, Oromotor apraxia, Nephrotic range proteinuria, Tremor, Seizure, Constipa... ORPHA:300536
Migraine, Familial Hemiplegic, 2
Apraxia, Focal motor seizure, Tremor, Episodic ataxia, Bilateral tonic-clonic seizure, Gait ataxi... OMIM:602481
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis OMIM:212065
Familial Glucocorticoid Deficiency
Renal salt wasting, Hyperkalemia, Hypoglycemic seizures, Diarrhea, Recurrent urinary tract infect... ORPHA:361
Wilson Disease
Parkinsonism with favorable response to dopaminergic medication, Limb dystonia, Rigidity, Dysphag... OMIM:277900
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Renal phosphate wasting OMIM:193100
Tetanus
Hypertonia, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Elevated c... ORPHA:3299
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Combined Oxidative Phosphorylation Deficiency 32
Gastroesophageal reflux, Spasticity, Tremor, Seizure, Constipation, Dystonia, Dysphagia, Choreoat... OMIM:617664
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Oculopharyngodistal Myopathy 4
Postural tremor, Tremor, Elevated circulating creatine kinase concentration, Dysphagia OMIM:619790
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... ORPHA:199351
Parkinson Disease 17
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Leukocytosis, Leukop... OMIM:615688
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait... OMIM:600116
Cranioectodermal Dysplasia 1
Hypocalcemia, Stage 1 chronic kidney disease, Chronic kidney disease, Stage 5 chronic kidney dise... OMIM:218330
Nipah Virus Disease
Seizure, Tremor, Infectious encephalitis, Myoclonus ORPHA:99825
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Seizure, Tremor, Spastic para... OMIM:300055
Pelizaeus-Merzbacher Disease
Writer's cramp, Seizure, Tremor, Urinary urgency, Spastic paraplegia, Intention tremor, Head titu... OMIM:312080
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Ataxia, Myoclonus OMIM:616494
Familial Hypoaldosteronism
Renal salt wasting, Hyperkalemia, Diarrhea, Increased circulating renin level, Hyponatremia, Prox... ORPHA:427
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Babinski sign, Hypertonia, Progressive cerebellar ataxia, Truncal ataxia, Poor fine motor coordin... ORPHA:137898
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Limb hypertonia, Oculogyric crisis, Gastroesophageal reflux, Diarrhea, Seizure, Tr... ORPHA:35708
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu... OMIM:300971
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Diarrhea, Seizure, Tremor, Vomiting, Glycosuria, Proteinuria, Abnormal ... ORPHA:263455
Non-Specific Early-Onset Epileptic Encephalopathy
Limb hypertonia, Gastroesophageal reflux, Spasticity, Tremor, Seizure, Involuntary movements, Rig... ORPHA:442835
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ... OMIM:615605
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mildly elevated creatine kinase, Arthritis, Seizure, Tremor ORPHA:397744
Poems Syndrome
Polycythemia, Thrombocytosis, Splenomegaly ORPHA:2905
Corticosteroid-Binding Globulin Deficiency
Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentration, Anemia,... OMIM:611489
Behr Syndrome
Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Ataxia, Dysphagia,... OMIM:210000
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculomotor apraxia, Transient hyperphenylalaninemia, Oculogyric crisis, Spasticity, Hyperphenylal... OMIM:612716
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Dysphagia OMIM:224500
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Tremor, Reticulocytosis, Microscopic hematuria, Increased blood urea n... OMIM:274150
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia, ... ORPHA:101
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Anemia, Hypercalciuria, Constipation, Hyperphosphaturia, Hypercalcemia, Hyp... OMIM:239200
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Tetraplegia, Tremor, Upper motor neuron dysfunction, Neuromuscular dysphag... ORPHA:206443
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur... OMIM:300554
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:602522
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Limb hypertonia, Seizure, Tremor, Athetosis, Dystonia, Ataxia, Thrombocytopenia, Spas... OMIM:617710
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Tremor, Elevated circulating phytanic acid concentration, Ataxia, Dysmetria OMIM:614867
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:276621
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Hypercalcemia, Micropenis, Hypospadias OMIM:614732
Tay-Sachs Disease
Typical absence seizure, Ankle clonus, Fasciculations, Incoordination, Increased serum beta-hexos... ORPHA:845
Ataxia-Telangiectasia
Chronic diarrhea, T lymphocytopenia, Sinusitis, Ataxia, Lymphopenia, Myoclonus, Decreased circula... OMIM:208900
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Tremor, Methylmalonic aciduria, Dysmetria OMIM:615578
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Adult-Onset Distal Myopathy Due To Vcp Mutation
Urinary incontinence, Fasciculations, Tremor, Frequent falls, Bowel incontinence, Parkinsonism, M... ORPHA:329478
Sneddon Syndrome
Decreased circulating total IgM, Seizure, Tremor, Lymphopenia, Hemiplegia OMIM:182410
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Urinary incontinence, Episodic vomiting, Paraplegia, Truncal ataxia, Spasticity, Tre... OMIM:105210
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Pancre... ORPHA:247585
Acute Intermittent Porphyria
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog... ORPHA:79276
Typhoid
Hypertonia, Gastrointestinal hemorrhage, Diarrhea, Skin rash, Tremor, Constipation, Ataxia, Splen... ORPHA:99745
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Generalized aminoaciduria, Renal tubular dysfunction, Hy... OMIM:227810
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hyperc... ORPHA:157215
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis OMIM:300894
Mohr-Tranebjaerg Syndrome
Babinski sign, Oromandibular dystonia, Generalized dystonia, Apraxia, Tremor, Aspiration pneumoni... ORPHA:52368
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr... ORPHA:99750
Scrub Typhus
Myocarditis, Skin rash, Tremor, Seizure, Splenomegaly, Anterior uveitis, Renal insufficiency, Inf... ORPHA:83317
Myoclonic-Astatic Epilepsy
Generalized non-motor (absence) seizure, Simple febrile seizure, Focal-onset seizure, Generalized... ORPHA:1942
Sialidosis Type 1
Increased urinary O-linked sialopeptides, Seizure, Tremor, Urinary excretion of sialylated oligos... ORPHA:812
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Wolfram Syndrome 1
Hydroureter, Neurogenic bladder, Tremor, Megaloblastic anemia, Seizure, Sideroblastic anemia, Hyd... OMIM:222300
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hyperphosphaturia, Iron deficiency anemia, Hypophosphatemia ORPHA:89937
Syndromic Diarrhea
Abnormality of iron homeostasis, Hypoplasia of the thymus, Increased mean platelet volume, Spleno... ORPHA:84064
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor, Hypokalemia OMIM:613239
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciuria, Calcium nephrolithiasis, Hypop... OMIM:241530
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chorea, Seizure, Tremor, Athetosis, Poor motor coordination, Limb dystonia, In... ORPHA:25
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Hypophosphatemia, Ami... OMIM:616026
Idiopathic Hypereosinophilic Syndrome
Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly... ORPHA:3260
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dystonia,... OMIM:128100
Acute Adrenal Insufficiency
Renal salt wasting, Hyperkalemia, Normocytic anemia, Hyperuricemia, Diarrhea, Seizure, Increased ... ORPHA:95409
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria ORPHA:1170
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Seizure, Tremor, Elevated circulating creatine kinase concentration, Hemato... ORPHA:79095
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Increased circulating antibody level, Oculomotor apraxia, Chorea, Tremor, Elevated c... OMIM:606002
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Limb dystonia, A... ORPHA:352649
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hypokalemia, Vomiting, Glycosuria, Hyperphosphaturia, Renal Fan... ORPHA:411629
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Dysphagia, Abnormal pyramidal ... OMIM:608768
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Urinary urgency, Constipation, Rigidity, Dystonia, Parkinso... OMIM:168600
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Bilateral tonic-clonic seizure, Ataxia, Myoclonus OMIM:607876
Japanese Encephalitis
Increased circulating antibody level, Focal motor seizure, Opisthotonus, Myoclonus, Weakness due ... ORPHA:79139
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Urinary incontinence, Tetraplegia, Tremor, Spasticity, Spastic paraplegia, Urinary... OMIM:616586
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Generalized clonic seizure, Elevated plasma citrulline, Hypoglutaminemia, Hyperg... ORPHA:3008
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Acute kidney injury, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hematuria, Homocystinuria... OMIM:277400
3-Methylglutaconic Aciduria, Type Viib
3-Methylglutaconic aciduria, Hyperkinetic movements, Spasticity, Tremor, Seizure, Dystonia, Ataxi... OMIM:616271
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypokalemia, Hyper... ORPHA:47159
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Tremor, Elevated circulating creatine kinase concentration ORPHA:209335
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Limb hypertonia, Seizure, Tremor, Exaggerated startle response, G... OMIM:618056
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Nephrocalcinosis, Abnormal urine sodium concentra... ORPHA:320
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Leukocytosis OMIM:618213
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Hemiplegia/hemiparesis, Dystonia, Ataxia, Abnormal pyrami... ORPHA:96
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Gait ataxia, Action tremor, Head titubation, Ataxia, Dysphagia, Babinski sign, Hype... ORPHA:99027
Fructose Intolerance, Hereditary
Bicarbonaturia, Gastrointestinal hemorrhage, Hyperuricemia, Transient aminoaciduria, Hyperbilirub... OMIM:229600
Primary Unilateral Adrenal Hyperplasia
Nausea, Decreased circulating renin level, Increased urinary potassium, Hypokalemia ORPHA:231580
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia, Renal phosphate wasting OMIM:612089
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:29072
Brucellosis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Splenome... ORPHA:1304
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Renal phosphate wasting, Hepatosplenomegaly, Abnormal circulating calci... OMIM:307800
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Congenital Disorder Of Glycosylation, Type Ij
Hypertonia, Seizure, Infantile spasms, Hypoproteinemia, Tremor OMIM:608093
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Anemia, Truncal ataxia, Seizure, Glycosuria, Hyperphosphaturia, Ataxia, Proteinuria, Aminoaciduri... OMIM:220110
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Hyperpho... ORPHA:2088
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dystonia, Ataxia, Dysphagi... OMIM:614381
Addison Disease
Renal salt wasting, Hyperkalemia, Normocytic anemia, Hyperuricemia, Diarrhea, Seizure, Increased ... ORPHA:85138
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Tremor, Polycythemia, Opisthotonus, Methemoglobinemia OMIM:250800
O'Sullivan-Mcleod Syndrome
Fasciculations, Eosinophilia, Tremor, Increased circulating antibody level ORPHA:99965
Tick-Borne Encephalitis
Fatigable weakness of respiratory muscles, Hyperkinetic movements, Focal-onset seizure, Myelitis,... ORPHA:297
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Nausea, Decreased circulating renin level, Increased urinary potassium, Hypokalemia ORPHA:231625
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Generalized non-motor (absence) seizure, Babinski sign, Hydroureter, Hypercalciuria, Seizure, Ren... OMIM:615398
Kawasaki Disease
Hypoalbuminemia, Thrombocytosis, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:2331
Serotonin Syndrome
Acute kidney injury, Hypertonia, Diarrhea, Seizure, Tremor, Clonus, Nausea, Rigidity, Myoclonus ORPHA:43116
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism with fav... ORPHA:240071
Renal Tubular Acidosis, Proximal
Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis OMIM:179830
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Nausea, Hypokalemia ORPHA:251274
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia,... ORPHA:98773
Senior-Boichis Syndrome
Tubular luminal dilatation, Chronic kidney disease, Anemia, Increased total bilirubin, Renal hypo... ORPHA:84081
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hyperkinetic movements, Chorea, Truncal ataxia, Tremor, Athetosis, Elevated circulating creatine ... OMIM:615356
Alternating Hemiplegia Of Childhood
Paroxysmal dyskinesia, Oculomotor apraxia, Oral-pharyngeal dysphagia, Diarrhea, Chorea, Focal mot... ORPHA:2131
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Refractory sideroblastic anemia, Anemia, Pancytopenia, Hypercalciuria, Hyperbilirubi... OMIM:557000
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Hypophosphatemic rickets, Medullary nephrocalcinosis OMIM:613312
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Tremor, Impaired T cell function, Ataxia, Splenomegaly, Decreased serum zinc OMIM:201100
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polyuria, Decreased circulating renin level, Hypokalemia OMIM:613677