Tremor, and Bruising susceptibility

Diseases related with Tremor and Bruising susceptibility

In the following list you will find some of the most common rare diseases related to Tremor and Bruising susceptibility that can help you solving undiagnosed cases.


Top matches:

Medium match GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY


Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria|gtg deficiency|ggt deficiency|gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Strabismus
  • Low-set ears


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

Medium match NIEMANN-PICK DISEASE, TYPE C1; NPC1


Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Medium match AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS


Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.

AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS Is also known as infantile malignant osteopetrosis|osteopetrosis, infantile malignant 2

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS

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Other less relevant matches:

Medium match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Medium match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Low match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Low match BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA SYNDROME


Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.

BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA SYNDROME Is also known as xltt|thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis

Related symptoms:

  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Leukemia
  • Bruising susceptibility


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA 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 THROMBOCYTOPENIA, CYCLIC


Related symptoms:

  • Anemia
  • Fatigue
  • Thrombocytopenia
  • Depressivity
  • Anxiety


SOURCES: OMIM MENDELIAN

More info about THROMBOCYTOPENIA, CYCLIC

Low match ATTENUATED CHÉDIAK-HIGASHI SYNDROME


Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.

ATTENUATED CHÉDIAK-HIGASHI SYNDROME Is also known as atypical chÉdiak-higashi syndrome

Related symptoms:

  • Intellectual disability
  • Peripheral neuropathy
  • Hypertonia
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: ORPHANET MENDELIAN

More info about ATTENUATED CHÉDIAK-HIGASHI SYNDROME

Top 5 symptoms//phenotypes associated to Tremor and Bruising susceptibility

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Abnormal bleeding Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Tremor and Bruising susceptibility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Epistaxis Hepatosplenomegaly Hepatomegaly Intellectual disability Recurrent respiratory infections Abnormality of movement Gingival bleeding Jaundice Fatigue Growth delay Cirrhosis Reticulocytosis Ascites Strabismus Skin rash Leukopenia Dementia Progressive neurologic deterioration Petechiae Peripheral neuropathy Depressivity Hepatocellular carcinoma Bone pain Lymphadenopathy Pancytopenia Global developmental delay Hemolytic anemia Ataxia Spasticity Proteinuria

Rare Symptoms - Less than 30% cases


Peripheral axonal neuropathy Paresthesia Pallor Leukemia Visual impairment Abnormal blistering of the skin Abnormality of the eye Increased bone mineral density Immunodeficiency Rigidity Difficulty walking Cranial nerve paralysis Edema Fever Pulmonary arterial hypertension Falls Neoplasm Reduced bone mineral density Arrhythmia Skin ulcer Neutropenia Arthritis Pathologic fracture Personality changes Abdominal pain Osteoarthritis Coma Nausea Confusion Nausea and vomiting Hematuria Abnormality of coagulation Anxiety Osteoporosis Autoimmune thrombocytopenia Vomiting Abnormal platelet function Failure to thrive Purpura Short stature Generalized hypopigmentation Cerebral hemorrhage Diarrhea Abnormality of extrapyramidal motor function Gastrointestinal hemorrhage Parkinsonism Nystagmus Hypersplenism Abnormality of the cerebral white matter Gait disturbance Abnormality of the nervous system Supranuclear gaze palsy Cognitive impairment Dysarthria Psychosis Hyperreflexia Dysphagia Mental deterioration Clumsiness Dystonia Prolonged neonatal jaundice Schizophrenia Myoclonus Neurological speech impairment Generalized hypotonia Abnormality of metabolism/homeostasis Behavioral abnormality Developmental regression Paralysis Neurodegeneration Abnormality of the cardiovascular system Corneal opacity Dyspnea Osteopenia EEG abnormality Abnormality of the thorax Portal hypertension Cholelithiasis Increased susceptibility to fractures Oculomotor apraxia Osteolysis Spastic paraparesis Apraxia Delayed puberty Meningitis Hepatic fibrosis Abnormality of eye movement Abnormality of skin pigmentation Intellectual disability, mild Anorexia Delayed skeletal maturation Generalized myoclonic seizures Decreased body weight Syncope Cyanosis Abdominal distention Motor delay Agenesis of corpus callosum Joint swelling Chondrocalcinosis Acute hepatic failure Renal tubular dysfunction Increased reactive oxygen species production Hand tremor Hypoparathyroidism Abnormality of blood and blood-forming tissues Hyperphosphaturia Arthropathy Osteomalacia Glycosuria Carcinoma Global brain atrophy Oral-pharyngeal dysphagia Intellectual disability, moderate Esophageal varix Neoplasm of the liver Kyphosis High nonceruloplasmin-bound serum copper Congestive heart failure Acidosis Myopia Scoliosis Atypical or prolonged hepatitis Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy Acute hepatitis Menstrual irregularities Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Retinoblastoma Proximal muscle weakness in lower limbs Clubbing Supranuclear ophthalmoplegia Leukocytosis Headache Glomerulonephritis Low-set ears Hyperbilirubinemia Hemiparesis Increased serum lactate Abnormality of the kidney Renal insufficiency Acute kidney injury Respiratory distress Hypertension Pain Absence of alpha granules Transient myeloproliferative syndrome Increased mean platelet volume Myeloproliferative disorder Hyperkalemia Hypertelorism Abnormal hemoglobin Schistocytosis Incoordination Hypertonia Cyclic neutropenia Internal hemorrhage Arterial thrombosis Thromboembolism Intracranial hemorrhage Microangiopathic hemolytic anemia Microscopic hematuria Increased blood urea nitrogen Bloody diarrhea Neonatal hyperbilirubinemia Hemolytic-uremic syndrome Abnormal renal physiology Preeclampsia Elevated serum creatinine Decreased mean corpuscular volume Microcytic anemia Menorrhagia Protuberant abdomen Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Multiple myeloma Vertebral compression fractures Edema of the lower limbs Increased serum ferritin Bipolar affective disorder Aseptic necrosis Generalized osteosclerosis Exertional dyspnea Interstitial pulmonary abnormality Pericardial effusion Talipes equinovarus Increased antibody level in blood Hypercalciuria Osteomyelitis Abnormality of the spleen Periorbital edema Prolonged bleeding time Biliary tract obstruction Postural instability Hirsutism Horizontal supranuclear gaze palsy Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Vascular calcification Esodeviation Erlenmeyer flask deformity of the femurs Orthopnea Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Spontaneous hematomas Fractures of the long bones Abnormality of mitochondrial metabolism Decreased liver function Back pain Chronic rhinitis Intention tremor Opsoclonus Optic nerve compression Abnormal pulmonary valve morphology Abnormality of temperature regulation Abnormality of hair texture Premature loss of primary teeth Atrial septal defect Osteopetrosis Pulmonary artery stenosis Abnormality of visual evoked potentials Dysphonia Hypophosphatemia Athetosis Skeletal muscle atrophy Cerebellar atrophy Bone marrow hypocellularity Neuronal loss in central nervous system Sensory neuropathy Sleep disturbance Tetraplegia Chorea Paraplegia Spastic paraplegia Oligohydramnios Intellectual disability, profound Mitral valve prolapse Photophobia Spastic tetraplegia Reduced visual acuity Hyporeflexia Areflexia Recurrent infections Hypocalcemia Neurofibrillary tangles Retinal degeneration Fatal liver failure in infancy Macrocephaly Optic atrophy Visceromegaly Vertical supranuclear gaze palsy Hearing impairment Cataplexy Low cholesterol esterification rates Foam cells Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Sea-blue histiocytosis Congenital thrombocytopenia Fetal ascites Rapid neurologic deterioration Hydrocephalus Respiratory failure Loss of speech Otitis media Abnormality of epiphysis morphology Bowing of the long bones Abnormality of the metaphysis Trismus Head tremor Abnormality of the ribs Sepsis Facial palsy Recurrent fractures Delayed eruption of teeth Spastic dysarthria Narrow chest Craniosynostosis Aplasia/Hypoplasia of the abdominal wall musculature Apnea Hypopigmentation of the skin Ophthalmoplegia Abnormality of the hand Aggressive behavior Poor coordination Poor speech Infertility Muscular hypotonia Pruritus Abnormality of the liver Intrauterine growth retardation Hepatic failure Elevated hepatic transaminase Arthralgia Weight loss Cerebral atrophy Pneumonia Generalized hypopigmentation of hair Joint hypermobility Heterotopia Abnormality of multiple cell lineages in the bone marrow Increased body weight Drooling Leukoencephalopathy Nephrocalcinosis Aminoaciduria Spontaneous abortion Muscle stiffness Bone-marrow foam cells Hepatic steatosis Nephrolithiasis Involuntary movements Cholestasis Asthma Hepatitis Aciduria Polyneuropathy Recurrent systemic pyogenic infections Giant melanosomes in melanocytes Brain atrophy Hyperpigmentation of the skin Albinism Melanocytic nevus Decreased nerve conduction velocity Abnormality of vision Foot dorsiflexor weakness Abnormal pyramidal sign Amblyopia Resting tremor Hypertriglyceridemia Cutaneous photosensitivity Generalized tonic-clonic seizures Bradykinesia Peripheral demyelination Lymphoma Sensory axonal neuropathy Generalized hyperpigmentation Recurrent cutaneous abscess formation Neonatal hypotonia Abnormal leukocyte morphology Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Partial albinism Progressive peripheral neuropathy Hypopigmentation of hair Hemophagocytosis Spinocerebellar tract degeneration White hair Fair hair Periodontitis Gingivitis Iris hypopigmentation Ocular albinism



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