Tremor, and Skin rash

Diseases related with Tremor and Skin rash

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


Top matches:

Low match AICARDI-GOUTIERES SYNDROME 6; AGS6


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

Low match SÉZARY SYNDROME


Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY 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

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Other less relevant matches:

Low match HARTNUP DISEASE


Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Low 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

Low match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Low match EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6


EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6 Is also known as cortical myoclonic tremor with epilepsy, familial, 6|benign adult familial myoclonic epilepsy 6|fcmte6|bafme6

Related symptoms:

  • Seizures
  • Tremor


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6

Low match AICARDI-GOUTIÈRES SYNDROME


Aicardi-Goutières syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.

AICARDI-GOUTIÈRES SYNDROME Is also known as encephalopathy with basal ganglia calcification|encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AICARDI-GOUTIÈRES SYNDROME

Low match IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH


IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

Low match CLASSIC PHENYLKETONURIA


Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

CLASSIC PHENYLKETONURIA Is also known as classic pku

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PHENYLKETONURIA

Top 5 symptoms//phenotypes associated to Tremor and Skin rash

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Tremor and Skin rash. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Anemia Microcephaly Cerebral calcification Hypertonia Cognitive impairment Dry skin Fever Behavioral abnormality Psychosis Thrombocytopenia Hyperphenylalaninemia Headache Generalized hypotonia Depressivity Abnormality of the cerebral white matter

Rare Symptoms - Less than 30% cases


Failure to thrive Leukoencephalopathy Diarrhea Vomiting Pain Paralysis Jaundice Cataract Irritability Hypoplasia of the corpus callosum Nausea and vomiting Dysarthria Short stature Muscular hypotonia Ptosis Attention deficit hyperactivity disorder Delayed myelination Eczema Gait disturbance Confusion Prolonged neonatal jaundice Autism Abnormal heart morphology Anxiety Increased serum lactate Cirrhosis Nausea Irregular hyperpigmentation Ataxia Intrauterine growth retardation Mood changes Loss of speech Hepatomegaly Mental deterioration Toe walking Splenomegaly Immunodeficiency Hepatosplenomegaly Pruritus Lower limb spasticity Leukodystrophy Progressive neurologic deterioration Developmental regression Nystagmus Dystonia Abnormality of the nervous system Intellectual disability, profound Hemolytic anemia Paraplegia Oligohydramnios Chorea Anteverted nares Neuronal loss in central nervous system Tetraplegia Ascites Hyperactivity Mitral valve prolapse Aggressive behavior Spastic tetraplegia Abnormality of cardiovascular system morphology Osteopenia Visceromegaly Wide nasal bridge Sea-blue histiocytosis Foam cells Aplasia/Hypoplasia of the abdominal wall musculature Spastic dysarthria Supranuclear ophthalmoplegia Bone-marrow foam cells Rapid neurologic deterioration Fetal ascites Congenital thrombocytopenia Supranuclear gaze palsy Head tremor Foam cells in visceral organs and CNS Intention tremor Abnormal cholesterol homeostasis Trismus Neurofibrillary tangles Low cholesterol esterification rates Athetosis Fatal liver failure in infancy Dysphonia Motor delay Schizophrenia Vertical supranuclear gaze palsy Clumsiness Cataplexy Generalized hypopigmentation Postnatal growth retardation Intellectual disability, mild Arthropathy Thrombocytosis Central hypotonia Eyelid coloboma Immune dysregulation Porencephalic cyst Arrhinencephaly CSF lymphocytic pleiocytosis Chilblains Deep white matter hypodensities Delayed speech and language development Cardiomyopathy Atrial septal defect Recurrent infections Hemiplegia/hemiparesis Decreased antibody level in blood Hoarse voice Absence seizures Bicuspid aortic valve Recurrent skin infections IgA deficiency Intellectual disability, severe Hypopigmentation of the skin Memory impairment Hemiplegia Self-injurious behavior Hypopigmentation of hair Lack of skin elasticity Basal ganglia calcification Scaling skin Abnormality of the liver Abnormal posturing Asthma Coarctation of aorta Spontaneous abortion Obsessive-compulsive behavior Malnutrition Hypoplastic left heart Scleroderma Iron deficiency anemia Poor coordination Self-mutilation Blue irides Fair hair Neurodegeneration Folate deficiency Plagiocephaly Body odor Prenatal maternal abnormality Microphakia Increased level of hippuric acid in urine Phenylpyruvic acidemia Reduced phenylalanine hydroxylase activity Maternal hyperphenylalaninemia Flexion contracture Feeding difficulties Cerebral cortical atrophy Muscular hypotonia of the trunk Feeding difficulties in infancy Choreoathetosis Postnatal microcephaly Sleep disturbance Insomnia Bruising susceptibility Renal insufficiency Erythroderma Gangrene Abnormality of the pleura Lichenification T-cell lymphoma Abnormal lymphocyte morphology Abnormal immunoglobulin level Cutaneous T-cell lymphoma Hypertension Fatigue Respiratory distress Arrhythmia Neoplasm of the skin Abdominal pain Proteinuria Abnormality of the kidney Pallor Hematuria Coma Abnormal bleeding Hemiparesis Hyperbilirubinemia Purpura Glomerulonephritis Personality changes Ectropion Thickened skin Acute kidney injury Loss of ability to walk Babinski sign Rigidity Spastic paraplegia Falls Frequent falls Clonus Ankle clonus Freckling Progressive spastic paraplegia Generalized dystonia Moderate global developmental delay Limb tremor Abnormality of the face Neoplasm Abnormal facial shape Peripheral neuropathy Skeletal muscle atrophy Edema Alopecia Weight loss Nail dystrophy Hypotrichosis Lymphadenopathy Palmoplantar keratoderma Lymphoma Hyperkalemia Autoimmune thrombocytopenia Retinal degeneration Neural tube defect Hypopigmented skin patches Abnormality of vision Encephalitis Emotional lability Delusions Gingivitis Bruxism Episodic ataxia Methylmalonic aciduria Abnormal urinary color Glossitis Glabellar reflex Hallucinations Grasp reflex Neutral hyperaminoaciduria Dysphagia Pneumonia Dementia Myoclonus Neonatal hypotonia Abnormal pyramidal sign Neurological speech impairment Generalized tonic-clonic seizures Ophthalmoplegia Abnormality of movement Aminoaciduria Diplopia Reticulocytosis Gait ataxia Microscopic hematuria Elevated serum creatinine Preeclampsia Abnormal renal physiology Hemolytic-uremic syndrome Neonatal hyperbilirubinemia Bloody diarrhea Increased blood urea nitrogen Microangiopathic hemolytic anemia Schistocytosis Strabismus Hydrocephalus Gastroesophageal reflux Chronic diarrhea Photophobia EEG abnormality Abnormality of the eye Malabsorption Unsteady gait Vertigo Hepatic steatosis Migraine Aciduria Abnormal blistering of the skin Cutaneous photosensitivity Inflammatory abnormality of the skin Motor deterioration



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