Tremor, and Pallor

Diseases related with Tremor and Pallor

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


Top matches:

Medium match EARLY-ONSET X-LINKED OPTIC ATROPHY


Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.

EARLY-ONSET X-LINKED OPTIC ATROPHY Is also known as optic atrophy, non-leber type, with early onset|optic atrophy type 2|opa2|non-leber type optic atrophy with early-onset|optic atrophy, x-linked

Related symptoms:

  • Intellectual disability
  • Peripheral neuropathy
  • Dysarthria
  • Optic atrophy
  • Tremor


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about EARLY-ONSET X-LINKED OPTIC ATROPHY

Medium match HYPERINSULINISM DUE TO HNF1A DEFICIENCY


Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.

HYPERINSULINISM DUE TO HNF1A DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to hnf1a deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hepatomegaly
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO HNF1A DEFICIENCY

Medium match PARKINSONIAN-PYRAMIDAL SYNDROME


Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism).

PARKINSONIAN-PYRAMIDAL SYNDROME Is also known as pkps|pallidopyramidal syndrome|parkinsonian-pyramidal syndrome|pallido-pyramidal syndrome

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: ORPHANET OMIM MENDELIAN

More info about PARKINSONIAN-PYRAMIDAL SYNDROME

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Other less relevant matches:

Medium 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

Medium match X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5


X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5 Is also known as cmt5x|cmtx5|optic atrophy, polyneuropathy, and deafness|rosenberg-chutorian syndrome|charcot-marie-tooth neuropathy, x-linked recessive, 5

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5

Medium 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

Medium match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Medium match TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY


Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Medium match SPINOCEREBELLAR ATAXIA 2; SCA2


Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (OMIM ), SCA2, and SCA3, or Machado-Joseph disease (OMIM ). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 2; SCA2 Is also known as wadia-swami syndrome|spinocerebellar ataxia, cuban type|olivopontocerebellar atrophy, holguin type|spinocerebellar degeneration with slow eye movements|olivopontocerebellar atrophy ii|spinocerebellar atrophy ii|cerebellar degeneration with slow eye moveme

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 2; SCA2

Top 5 symptoms//phenotypes associated to Tremor and Pallor

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Fatigue Cerebellar atrophy Dysarthria Hyperreflexia Cognitive impairment Spasticity Distal amyotrophy Broad-based gait Dystonia Rod-cone dystrophy Rigidity Agitation Dyskinesia Progressive neurologic deterioration Gait disturbance Coma Muscle weakness Optic atrophy Neonatal hypotonia Abnormal cerebellum morphology Diarrhea Babinski sign Vomiting Motor delay Gait ataxia Ataxia

Rare Symptoms - Less than 30% cases


Proteinuria Kyphosis Peripheral axonal neuropathy Distal muscle weakness Areflexia Dysdiadochokinesis Central nervous system degeneration Progressive visual loss Neuronal loss in central nervous system Sensory neuropathy Hemolytic anemia Dysmetria Apnea Titubation Visual impairment Retinal degeneration Progressive cerebellar ataxia Pigmentary retinopathy Muscular hypotonia Optic disc pallor Jaundice Skeletal muscle atrophy Respiratory distress Fever Cerebral atrophy Anemia Hyporeflexia Ankle clonus Slow saccadic eye movements Horizontal nystagmus Abnormal pyramidal sign Hepatomegaly Elevated hepatic transaminase Abnormality of extrapyramidal motor function Pancreatic islet-cell hyperplasia Bradykinesia Abnormality of fatty-acid metabolism Parkinsonism Postural instability Lethargy Dysphagia Sleep disturbance Paralysis Difficulty walking Myoclonus Reduced visual acuity Hyperhidrosis Dementia Intention tremor Increased body weight Clonus Fasting hypoglycemia Large for gestational age Drowsiness Neonatal hypoglycemia Hyperinsulinemic hypoglycemia Optic neuropathy Hyperinsulinemia Tachycardia Hypoketotic hypoglycemia Hypoplasia of penis Sparse scalp hair Long eyelashes Clumsiness Recurrent hypoglycemia Gynecomastia Central heterochromia Long eyebrows Hypogonadotrophic hypogonadism Choroideremia Sensory axonal neuropathy Alopecia areata Retinal atrophy Progressive gait ataxia Chorioretinal atrophy Spinocerebellar tract degeneration Growth hormone deficiency Frontal bossing Focal impaired awareness seizure Oral-pharyngeal dysphagia Delayed ability to walk Hypopnea Broad face Supranuclear ophthalmoplegia Pontocerebellar atrophy Truncal titubation Short stature Growth delay Failure to thrive Cryptorchidism Obesity Myopathy Alopecia Downbeat nystagmus Severe short stature Hypogonadism Micropenis Hypothyroidism Hypoglycemia Sparse hair Small for gestational age Spastic paraplegia Delayed puberty Paraplegia Thick eyebrow Cardiomyopathy Hypertrophic cardiomyopathy Congestive heart failure Truncal ataxia Dilated fourth ventricle Retinopathy Ophthalmoplegia Impaired horizontal smooth pursuit Abnormality of eye movement Neurodegeneration Nevus Chorea Limb ataxia Diplopia Fasciculations Oculomotor apraxia Hypometric saccades External ophthalmoplegia Drooling Poor head control Spinal muscular atrophy Postural tremor Impaired vibratory sensation Gaze-evoked nystagmus Resting tremor Olivopontocerebellar atrophy Poor coordination Urinary bladder sphincter dysfunction Mental deterioration Abnormality of the eye Splenomegaly Decreased nerve conduction velocity Recurrent infections Recurrent respiratory infections Respiratory failure Action tremor Respiratory tract infection Limb muscle weakness Unsteady gait Oligohydramnios Involuntary movements Progressive muscle weakness Respiratory insufficiency due to muscle weakness Cholelithiasis Optic nerve hypoplasia Macrocytic anemia Abnormality of immune system physiology Diaphragmatic paralysis Normocytic anemia Cholecystitis Nonspherocytic hemolytic anemia Dysmetric saccades Normochromic anemia Abnormal posturing Chronic hemolytic anemia Flexion contracture Congenital hemolytic anemia Hyperbilirubinemia Tented upper lip vermilion Distal sensory impairment Metabolic ketoacidosis Hearing impairment Scoliosis Sensorineural hearing impairment Cataract Visual loss Elevated serum creatine phosphokinase Pes cavus Lower limb muscle weakness Paresthesia Falls Polyneuropathy Renal Fanconi syndrome Sensory impairment Bilateral sensorineural hearing impairment Frequent falls Sensorimotor neuropathy Paraparesis Progressive hearing impairment Language impairment Skeletal muscle hypertrophy Mildly elevated creatine phosphokinase Macular atrophy Onion bulb formation Increased hepatic glycogen content Hypophosphatemic rickets Congenital nystagmus Blepharospasm Glaucoma Abnormality of the nervous system Abnormality of mitochondrial metabolism Absent Achilles reflex Hyperactive patellar reflex Talipes equinovarus Memory impairment Peripheral demyelination Lower limb spasticity Abnormal autonomic nervous system physiology Akinesia Lewy bodies Glycosuria Visual hallucinations Hypomimic face Shuffling gait Neurogenic bladder Parkinsonism with favorable response to dopaminergic medication Cogwheel rigidity Substantia nigra gliosis Scissor gait Equinovarus deformity Upgaze palsy Monotonic speech Elevated alkaline phosphatase Impaired pain sensation Excessive daytime somnolence Finger clinodactyly Delayed speech and language development Preeclampsia Abnormal renal physiology Hemolytic-uremic syndrome Neonatal hyperbilirubinemia Bloody diarrhea Increased blood urea nitrogen Microangiopathic hemolytic anemia Schistocytosis Microcephaly High palate Feeding difficulties Epicanthus Microscopic hematuria Hypoplasia of the corpus callosum Hypertonia Long philtrum Absent speech Clinodactyly Clinodactyly of the 5th finger Cerebellar hypoplasia Brachycephaly Muscular hypotonia of the trunk Thin vermilion border Flat face Cyanosis Elevated serum creatinine Reticulocytosis Areflexia of lower limbs Skin rash Kinetic tremor Abnormal nerve conduction velocity Segmental peripheral demyelination/remyelination Pain Hypertension Renal insufficiency Headache Thrombocytopenia Arrhythmia Abdominal pain Abnormality of the kidney Nausea and vomiting Autoimmune thrombocytopenia Confusion Nausea Hematuria Abnormal bleeding Increased serum lactate Hemiparesis Purpura Glomerulonephritis Personality changes Hyperkalemia Prolonged neonatal jaundice Acute kidney injury Palatal myoclonus



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