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 SYNDROME

Low 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 SYNDROME

Low 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


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO HNF4A DEFICIENCY

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

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-CDG

Low 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 SYNDROME

Low 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 PURPURA

Low 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


SOURCES: ORPHANET MENDELIAN

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 PHEOCHROMOCYTOMA

Low 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


SOURCES: MESH OMIM MENDELIAN

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 GALACTOSEMIA

Top 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
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Sinusitis, related diseases and genetic alterations Hepatomegaly and Atrial fibrillation, related diseases and genetic alterations Macrocephaly and Hepatosplenomegaly, related diseases and genetic alterations Spasticity and Spina bifida, related diseases and genetic alterations Micrognathia and Alzheimer disease, related diseases and genetic alterations Global developmental delay and Blindness, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more