Tremor, and Proteinuria
Diseases related with Tremor and Proteinuria
In the following list you will find some of the most common rare diseases related to Tremor and Proteinuria that can help you solving undiagnosed cases.
Top matches:
Low match ACTION MYOCLONUS-RENAL FAILURE SYNDROME
Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.
ACTION MYOCLONUS-RENAL FAILURE SYNDROME Is also known as myoclonus-nephropathy syndrome|progressive myoclonic epilepsy type 4|epm4|amrf|action myoclonus-renal failure syndrome
Related symptoms:
- Seizures
- Ataxia
- Anemia
- Peripheral neuropathy
- Dysarthria
SOURCES: ORPHANET OMIM MENDELIAN
More info about ACTION MYOCLONUS-RENAL FAILURE SYNDROMELow match SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME
Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.
SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME Is also known as ssm syndrome
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Scoliosis
- Hypertelorism
SOURCES: OMIM ORPHANET MENDELIAN
More info about SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROMELow match HYPERINSULINISM DUE TO HNF4A DEFICIENCY
Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term).
HYPERINSULINISM DUE TO HNF4A DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to hnf4a deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Hepatomegaly
- Tremor
- Fatigue
More info about HYPERINSULINISM DUE TO HNF4A DEFICIENCY
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Other less relevant matches:
Low match DDOST-CDG
DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).
DDOST-CDG Is also known as carbohydrate deficient glycoprotein syndrome type ir|congenital disorder of glycosylation type ir|cdg-ir|congenital disorder of glycosylation type 1r|cdg syndrome type ir|cdg1r
Related symptoms:
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Failure to thrive
SOURCES: OMIM ORPHANET MENDELIAN
More info about DDOST-CDGLow match EAST SYNDROME
SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).
EAST SYNDROME Is also known as sesame syndrome|epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome|seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|east syndrome|epilepsy, ataxia, sensorineural deafness, and tubulopathy
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about EAST SYNDROMELow match CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA
Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.
CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA Is also known as congenital ttp|microangiopathic hemolytic anemia|thrombotic microangiopathy, familial|microangiopathic hemolytic anemia, congenital|congenital adamts-13 deficiency|upshaw factor, deficiency of|uss|thrombotic thrombocytopenic purpura, familial|familial ttp
Related symptoms:
- Seizures
- Pain
- Anemia
- Hypertension
- Fever
SOURCES: OMIM ORPHANET MENDELIAN
More info about CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURALow match HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA
Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).
HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma
Related symptoms:
- Tremor
- Fatigue
- Congestive heart failure
- Weight loss
- Conductive hearing impairment
More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA
Low match PHEOCHROMOCYTOMA
Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.
PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to
Related symptoms:
- Neoplasm
- Hypertension
- Tremor
- Fatigue
- Congestive heart failure
SOURCES: ORPHANET OMIM MENDELIAN
More info about PHEOCHROMOCYTOMALow match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi
Related symptoms:
- Intellectual disability
- Short stature
- Hearing impairment
- Microcephaly
- Scoliosis
More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
Low match GALACTOSEMIA
Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006).
GALACTOSEMIA Is also known as galactose-1-phosphate uridylyltransferase deficiency|galt deficiency|galactosemia, classic
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES: ORPHANET OMIM MENDELIAN
More info about GALACTOSEMIATop 5 symptoms//phenotypes associated to Tremor and Proteinuria
| Symptoms // Phenotype | % cases |
|---|---|
| Seizures | Common - Between 50% and 80% cases |
| Hypertension | Uncommon - Between 30% and 50% cases |
| Ataxia | Uncommon - Between 30% and 50% cases |
| Generalized hypotonia | Uncommon - Between 30% and 50% cases |
| Diarrhea | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Tremor and Proteinuria. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Hematuria Global developmental delay Renal insufficiency Intellectual disability Fatigue Vomiting Pallor Glomerulosclerosis Weight loss Failure to thrive Nausea Short stature Anemia Neoplasm Cerebellar atrophy
Rare Symptoms - Less than 30% cases
Extraadrenal pheochromocytoma Delayed speech and language development Congestive heart failure Abnormal bleeding Cafe-au-lait spot Albuminuria Nausea and vomiting Jaundice Metabolic acidosis Microcephaly Conductive hearing impairment Growth delay Muscular hypotonia Sensorineural hearing impairment Hearing impairment Feeding difficulties Abnormality of the coagulation cascade CNS hypomyelination Decreased liver function Neurological speech impairment Paroxysmal vertigo Chest pain Episodic hyperhidrosis Paraganglioma Hypertension associated with pheochromocytoma Panic attack Elevated urinary epinephrine Hypertensive retinopathy Episodic paroxysmal anxiety Pulsatile tinnitus Adrenal pheochromocytoma Recurrent paroxysmal headache Cranial nerve compression Sinus tachycardia Paraganglioma of head and neck Palpitations Elevated urinary dopamine Glycosuria Vocal cord paralysis Episodic abdominal pain Aniridia Elevated urinary norepinephrine Cerebral hemorrhage Hypercalcemia Dysphonia Positive regitine blocking test Flushing Hemolytic anemia Hemiparesis Strabismus Gastroesophageal reflux Constipation Thrombocytopenia Dementia Gait ataxia Lethargy Hemolytic-uremic syndrome Tachycardia Peripheral neuropathy Scoliosis Elevated hepatic transaminase Generalized-onset seizure Dysarthria Hyperhidrosis Intention tremor Hepatomegaly Coma Large for gestational age Abnormality of the nervous system Deeply set eye Photophobia Cerebral atrophy Hyperactivity Papule Erythema Attention deficit hyperactivity disorder Astigmatism Muscle cramps Progressive cerebellar ataxia Brain atrophy Chorea Delayed myelination Prominent nose Microdontia Cutaneous photosensitivity Intrauterine growth retardation Renal artery stenosis Flexion contracture Myoclonus Decreased nerve conduction velocity Nephrotic syndrome Retinal capillary hemangioma Nephropathy Falls Stage 5 chronic kidney disease Unsteady gait Arachnoid hemangiomatosis Carcinoma Nystagmus Retinopathy Congenital cataract Hemangioma Raynaud phenomenon Neoplasm of the endocrine system Pheochromocytoma Bone marrow hypocellularity Episodic hypertension Dysphagia Decreased body weight Verrucae Neoplasm of the skin Abnormality of the ovary Aminoaciduria Shock Failure to thrive in infancy Abnormality of the voice Premature ovarian insufficiency Nephritis Abnormality of coagulation Renal tubular dysfunction Edema of the lower limbs Neoplasm of the liver Speech apraxia Vitreous hemorrhage Hypergonadotropic hypogonadism Decreased fertility in females Retinal hemorrhage Hypergalactosemia Hyperchloremic metabolic acidosis Food intolerance Galactosuria Speech articulation difficulties Impairment of galactose metabolism Increased level of galactitol in plasma Increased level of galactitol in red blood cells Increased level of galactitol in urine Hypogonadotrophic hypogonadism Anorexia Freckling Edema Tubular atrophy Postural tremor Morphological abnormality of the central nervous system Defective DNA repair after ultraviolet radiation damage Cholangiocarcinoma Seborrheic keratosis Numerous pigmented freckles Cataract Cognitive impairment Visual impairment Gait disturbance Behavioral abnormality Sepsis Abnormality of metabolism/homeostasis Osteoporosis Hypogonadism Hepatosplenomegaly Hypoglycemia Feeding difficulties in infancy Irritability Abnormality of the liver Cirrhosis Hepatic failure Ascites Abdominal distention Hypoalbuminemia Abnormal glycosylation Focal segmental glomerulosclerosis Dysdiadochokinesis Nephrotic range proteinuria Neonatal hypotonia Motor delay Acidosis Intellectual disability, moderate Generalized tonic-clonic seizures Peripheral axonal neuropathy Hypoplastic philtrum Postural instability Hypokalemia Polydipsia Type I transferrin isoform profile Polyuria Hyperaldosteronism Hypomagnesemia Renal salt wasting Alkalosis Enuresis Metabolic alkalosis Abnormality of the mitochondrion Abnormality of the renal tubule Increased circulating renin level Oromotor apraxia Primary hypothyroidism Hypokalemic metabolic alkalosis Increased hepatic glycogen content Hyperinsulinemia Drowsiness Neonatal hypoglycemia Hyperinsulinemic hypoglycemia Hypoketotic hypoglycemia Hypophosphatemic rickets Fasting hypoglycemia Pancreatic islet-cell hyperplasia Renal Fanconi syndrome Abnormality of fatty-acid metabolism Metabolic ketoacidosis Recurrent ear infections Elevated alkaline phosphatase Increased body weight Osteopenia Progressive neurologic deterioration Dry skin Hepatic steatosis Esotropia Accelerated skeletal maturation Lipodystrophy Loss of consciousness Neurodevelopmental delay Hypocalciuria Chronic axonal neuropathy Glomerulopathy Coarse facial features Elevated serum creatinine Preeclampsia Abnormal renal physiology Neonatal hyperbilirubinemia Bloody diarrhea Increased blood urea nitrogen Microangiopathic hemolytic anemia Schistocytosis Intestinal malrotation Poor speech Ventricular septal defect Reticulocytosis Abnormality of the skeletal system Macrocephaly Renal cell carcinoma Cryptorchidism Hypertelorism Mild proteinuria Agitation Normochromic anemia Demyelinating peripheral neuropathy Elevated calcitonin Action tremor Microscopic hematuria Autoimmune thrombocytopenia Renal potassium wasting Paralysis Peripheral hypomyelination Salt craving Renal sodium wasting Pain Fever Respiratory distress Headache Arrhythmia Abdominal pain Abnormality of the kidney Skin rash Acute kidney injury Overlapping toe Confusion Broad-based gait Status epilepticus Increased serum lactate Hyperbilirubinemia Purpura Glomerulonephritis Personality changes Hyperkalemia Prolonged neonatal jaundice Increased level of galactonate in red blood cells
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