Tremor, and Aganglionic megacolon

Diseases related with Tremor and Aganglionic megacolon

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


Top matches:

Low match JOUBERT SYNDROME


Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv|joubert syndrome type a|classic joubert syndrome|pure joubert syndrome|cpd iv|joubert-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME

Low match JOUBERT SYNDROME WITH RENAL DEFECT


Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.

JOUBERT SYNDROME WITH RENAL DEFECT Is also known as js-r

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH RENAL DEFECT

Low match JOUBERT SYNDROME WITH OCULAR DEFECT


Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.

JOUBERT SYNDROME WITH OCULAR DEFECT Is also known as joubert syndrome with retinopathy|js-o

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULAR DEFECT

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Other less relevant matches:

Low match X-LINKED CREATINE TRANSPORTER DEFICIENCY


X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Low match METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM


The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD: late infantile, juvenile, and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency; and 2 nonallelic forms: metachromatic leukodystrophy due to saposin B deficiency (OMIM ) and multiple sulfatase deficiency or juvenile sulfatidosis (OMIM ), a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy.

METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM Is also known as sulfatide lipidosis|arsa deficiency|mld, late infantile form|arylsulfatase a deficiency|cerebroside sulfatase deficiency|metachromatic leukoencephalopathy|arylsulfatase a deficiency, late infantile form|cerebral sclerosis, diffuse, metachromatic form

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM

Low match ATELOSTEOGENESIS TYPE I


Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

Low match PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE


Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Low match PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23


Parkinson disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by Lesage et al., 2016).

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Tremor
  • Cerebral atrophy


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23

Low match HYPERINSULINISM DUE TO GLUCOKINASE DEFICIENCY


Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.

HYPERINSULINISM DUE TO GLUCOKINASE DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to glucokinase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Muscle weakness
  • Fatigue
  • Diabetes mellitus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERINSULINISM DUE TO GLUCOKINASE DEFICIENCY

Low match PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8


Related symptoms:

  • Seizures
  • Cognitive impairment
  • Delayed speech and language development
  • Tremor
  • Dementia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8

Top 5 symptoms//phenotypes associated to Tremor and Aganglionic megacolon

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Gait disturbance Cognitive impairment Generalized hypotonia Spasticity Rigidity Ptosis Nystagmus Scoliosis Prominent nasal bridge Long face Abnormal pattern of respiration Feeding difficulties Motor delay Chorea Delayed speech and language development Intellectual disability, severe Constipation Parkinsonism Biparietal narrowing Abnormal autonomic nervous system physiology Dementia Mental deterioration Abnormality of the hypothalamus-pituitary axis Neurodegeneration Polymicrogyria Anteverted nares Highly arched eyebrow Iris coloboma Abnormality of cardiovascular system morphology Feeding difficulties in infancy Cerebellar vermis hypoplasia Encephalocele Oral cleft Hand polydactyly Apnea Oculomotor apraxia Strabismus Hydrocephalus

Rare Symptoms - Less than 30% cases


Neuronal loss in central nervous system Cerebral cortical atrophy Clumsiness Hand tremor Akinesia Resting tremor Neurofibrillary tangles Autistic behavior Muscular hypotonia of the trunk Neonatal hypotonia Stereotypy Ileus Abnormal pyramidal sign Peripheral demyelination Developmental regression Abnormality of the nervous system Low-set ears Tetraplegia Hyporeflexia Myopathy Hyperreflexia Decreased nerve conduction velocity Peripheral neuropathy Muscle weakness Spastic tetraplegia Coma Leukodystrophy Chronic constipation Pes cavus Lewy bodies Absent speech Cleft palate Abnormality of metabolism/homeostasis Molar tooth sign on MRI Apraxia Retinal dystrophy Low-set, posteriorly rotated ears Cryptorchidism Microcephaly Agenesis of corpus callosum Malar flattening Behavioral abnormality Midface retrusion Dystonia Foot polydactyly Lower limb spasticity Myotonia Hypopigmentation of the skin Anosmia Premature ovarian insufficiency Underdeveloped nasal alae Hypohidrosis Poor head control Optic nerve hypoplasia Hypopigmented skin patches Tented upper lip vermilion Aspiration Spastic paraparesis Progressive spasticity Infantile muscular hypotonia Drooling Torticollis Intellectual disability, profound Distal sensory impairment Hypoventilation Poor eye contact Splenomegaly Sensorineural hearing impairment Hypertension Hepatomegaly Wide nasal bridge Growth delay Myopia CNS hypomyelination Hearing impairment Hostility Infantile axial hypotonia Central hypoventilation Arrhythmia Distal amyotrophy Areflexia Bruxism Myoclonus Facial hypotonia Hypogonadism Abdominal pain Hepatosplenomegaly Telecanthus Distal muscle weakness Central hypotonia Arthrogryposis multiplex congenita Severe muscular hypotonia Dysmyelinating leukodystrophy Portal hypertension Abnormal C-peptide level Diabetes mellitus Hypoglycemia Type II diabetes mellitus Hyperinsulinemia Hyperinsulinemic hypoglycemia Recurrent hypoglycemia Hypoketotic hypoglycemia Hypoglycemic seizures Hypoglycemic coma Fasting hyperinsulinemia Abnormality of the autonomic nervous system Abnormality of nervous system physiology Postural instability Limb dystonia Gliosis Bradykinesia Intention tremor Postural tremor Alzheimer disease Aphasia Frontotemporal dementia Shuffling gait Senile plaques Hyposmia Parkinsonism with favorable response to dopaminergic medication Substantia nigra gliosis Fatigue Cerebral atrophy Intestinal obstruction White eyebrow Premature graying of hair Congenital nystagmus Hypopigmentation of hair Abnormal eyebrow morphology Blue irides Heterochromia iridis White hair Demyelinating peripheral neuropathy White forelock Intestinal pseudo-obstruction Alacrima White eyelashes Microcolon Spasmus nutans Cerebral dysmyelination Decreased lacrimation Spotty hyperpigmentation Peripheral hypomyelination Meconium ileus Hypoplasia of the cochlea Neonatal asphyxia Myelin outfoldings Hypoplasia of the semicircular canal Absent brainstem auditory responses Severe global developmental delay Long-segment aganglionic megacolon Poor speech Toe walking Respiratory tract infection External ophthalmoplegia Broad forehead Hypermetropia Ophthalmoplegia Joint hyperflexibility Joint hypermobility Delayed myelination Open mouth Choreoathetosis Tall stature Exotropia Narrow face Cachexia Irritability Redundant skin Language impairment Mask-like facies Athetosis Myopathic facies Self-mutilation Speech apraxia Impaired social interactions Urethral stenosis Duodenal ulcer Abnormality of creatine metabolism Poor hand-eye coordination Attention deficit hyperactivity disorder Intellectual disability, moderate Pain Hypometric saccades Abnormal form of the vertebral bodies Situs inversus totalis Aplasia/Hypoplasia of the corpus callosum Abnormality of neuronal migration Episodic tachypnea Renal insufficiency Abnormality of the eye Abnormality of eye movement Nephropathy Delayed gross motor development Nephronophthisis Breathing dysregulation Elongated superior cerebellar peduncle Aggressive behavior Thickened superior cerebellar peduncle Visual loss Abnormal vertebral morphology Dextrocardia Retinal coloboma Short stature Failure to thrive Hypoplasia of the corpus callosum Vomiting Hypertonia Hyperactivity Mandibular prognathia Underfolded superior helices Dysarthria Anxiety Dysphagia Progressive peripheral neuropathy Cholecystitis EMG: chronic denervation signs Decerebrate rigidity Abnormal social behavior Punctate periventricular T2 hyperintense foci Abnormality of proteoglycan metabolism Gallbladder dysfunction Hypertelorism Depressed nasal bridge Macrocephaly Downslanted palpebral fissures Abnormality of the dentition Genu recurvatum Short nose Recurrent infections Depressivity Patent ductus arteriosus Pneumonia Recurrent respiratory infections Brachycephaly Narrow mouth Autism Hypothyroidism Gastroesophageal reflux Macrotia Vegetative state EMG: neuropathic changes Optic atrophy Bilateral sensorineural hearing impairment Babinski sign Gait ataxia Reduced visual acuity Pallor Abnormality of the cerebral white matter Unsteady gait Confusion Polyneuropathy Abdominal distention Brain atrophy Urinary incontinence Optic disc pallor Frequent falls Progressive gait ataxia Hallucinations Shock Schizophrenia Apathy Personality changes Emotional lability Bulbar palsy Onion bulb formation Abnormality of visual evoked potentials Loss of speech Increased CSF protein Delusions Motor aphasia



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