Ataxia, and Diarrhea

Diseases related with Ataxia and Diarrhea

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


Top matches:

Low match FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY


Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy (Dannoura et al., 1999).

FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY Is also known as lpl deficiency|anderson disease|andd|lipid transport defect of intestine|hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Growth delay
  • Failure to thrive
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY

Low match FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY


Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane|recurrent acute necrotizing encephalopathy|ane|encephalopathy, acute necrotizing, susceptibility to

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY

Low match ABETALIPOPROTEINEMIA


Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic|fhbl|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|homozygous familial hypobetalipoproteinemia|bassen-kornzweig disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscular hypotonia
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA

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Other less relevant matches:

Low match ETHYLMALONIC ENCEPHALOPATHY


Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ETHYLMALONIC ENCEPHALOPATHY

Low match TRANSCOBALAMIN DEFICIENCY


Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.

TRANSCOBALAMIN DEFICIENCY Is also known as transcobalamin ii deficiency|inherited deficiency of transcobalamin|tc ii deficiency|tcn2 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSCOBALAMIN DEFICIENCY

Low match NEUROBLASTOMA


Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Related symptoms:

  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROBLASTOMA

Low match CYCLIC VOMITING SYNDROME; CVS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Low match GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME


Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.

GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME Is also known as gerstmann-straussler-scheinker disease|prion dementia|subacute spongiform encephalopathy, gerstmann-straussler type|encephalopathy, subacute spongiform, gerstmann-straussler type|amyloidosis, cerebral, with spongiform encephalopathy|cerebellar ataxia, pro

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME

Low match LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM


Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as cach|cle|childhood ataxia with central nervous system hypomyelinization|cree leukoencephalopathy|vanishing white matter leukodystrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

Low match CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B


Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (Skre, 1974). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. ClassificationOn the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1, or HMSNI) and primary peripheral axonal (type 2, or HMSNII) neuropathies. The demyelinating neuropathies classified as CMT type 1 are characterized by severely reduced motor NCVs (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy. The axonal neuropathies classified as CMT type 2 are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; {118210}). Distal hereditary motor neuropathy (dHMN) (see {158590}), or spinal CMT, is characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999).McAlpine (1989) proposed that the forms of CMT with very slow nerve conduction be given the gene symbol CMT1A (OMIM ) and CMT1B, CMT1A being the gene on chromosome 17 and CMT1B being the gene on chromosome 1. CMT2 was the proposed symbol for the autosomal locus responsible for the moderately slow nerve conduction form of the disease (axonal).For a phenotypic description and discussion of genetic heterogeneity of the various subtypes of CMT, see CMTX1 (OMIM ), CMT2A1 (OMIM ), CMT3 (DSS ), CMT4A (OMIM ), and CMTDIB (OMIM ). Genetic Heterogeneity of Autosomal Dominant Demyelinating CMT1Autosomal dominant demyelinating CMT1 is genetically heterogeneous disorder and can be caused by mutations in different genes (see CMT1A, {118220}; CMT1C, {601098}; CMT1D, {607678}), CMT1E (OMIM ), and CMT1F (OMIM ). See also {608236} for a related phenotype characterized by isolated slowed nerve conduction velocities (NCVs).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B Is also known as hmsn1b|charcot-marie-tooth neuropathy, type 1b|charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1b|hereditary motor and sensory neuropathy ib|hereditary motor and sensory neuropathy i|hmsn i|peroneal muscular atrop

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

Top 5 symptoms//phenotypes associated to Ataxia and Diarrhea

Symptoms // Phenotype % cases
Vomiting Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Diarrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Muscular hypotonia Failure to thrive Chronic diarrhea Muscle weakness Encephalopathy Gait disturbance Anemia Peripheral demyelination Gliosis Coma Lethargy Blindness Pain Spasticity Global developmental delay Areflexia Cognitive impairment Hearing impairment

Rare Symptoms - Less than 30% cases


Myoclonus Mental deterioration Nausea Thrombocytopenia Hyporeflexia Dementia Microcephaly Developmental regression Aciduria Abnormality of extrapyramidal motor function Axonal degeneration Hyperreflexia Cardiomyopathy Myopathy Abdominal pain Distal muscle weakness Limb muscle weakness Optic atrophy Emotional lability Personality changes Muscle stiffness Unsteady gait Progressive cerebellar ataxia Memory impairment Weight loss Tremor Dysarthria Rigidity Abetalipoproteinemia Fat malabsorption Spastic tetraplegia Hallucinations Tetraplegia Foot dorsiflexor weakness Encephalitis Polyneuropathy Pallor Hypocholesterolemia Acanthocytosis Reduced tendon reflexes Decreased LDL cholesterol concentration Visual impairment Growth delay Rod-cone dystrophy Hepatic steatosis Malabsorption Abnormality of the eye Apathy Akinesia Spinal deformities Hip dysplasia Bradykinesia Apraxia Psychosis Slurred speech Truncal ataxia Clumsiness Involuntary movements Limb ataxia Hyperkinesis Mutism Neuritis Brain atrophy Decreased nerve conduction velocity Parkinsonism Chronic sensorineural polyneuropathy Dysphagia Cerebellar atrophy Depressivity Visual loss Cerebral cortical atrophy Gait ataxia Difficulty walking Anxiety Aggressive behavior Trophic changes related to pain Paralysis Neurodegeneration Tonic pupil Myelin outfoldings Abnormality of eye movement Hypertrophic nerve changes Poor speech Lower limb muscle weakness Dysmetria Confusion Ulnar claw Athetosis Limb tremor Paresthesia Neurofibrillary tangles Alzheimer disease Pes cavus CNS demyelination Cerebral hypomyelination Abnormal pupil morphology Primary gonadal insufficiency Diffuse leukoencephalopathy Rapid neurologic deterioration Spastic hemiparesis Upper limb undergrowth Cessation of head growth Decreased circulating progesterone Skeletal muscle atrophy Diabetes mellitus Hyperventilation Heart block Onion bulb formation Kyphoscoliosis Abnormality of the foot Distal amyotrophy Distal sensory impairment Sensory neuropathy Decreased number of peripheral myelinated nerve fibers Decreased motor nerve conduction velocity Steppage gait Hammertoe Delusions Progressive encephalopathy Global brain atrophy Macrocephaly Aphasia Split hand Insomnia Impaired smooth pursuit Lewy bodies Hypomimic face Supranuclear gaze palsy Dysesthesia Perseveration Cerebral amyloid angiopathy Delayed speech and language development Motor polyneuropathy Secondary amenorrhea Cerebral atrophy Abnormality of the cerebral white matter Amenorrhea Primary amenorrhea Hemiparesis Progressive neurologic deterioration Spastic gait Leukodystrophy Paraparesis Spastic paraparesis Leukoencephalopathy CNS hypomyelination Premature ovarian insufficiency Abdominal mass Nystagmus Abnormality of the retinal vasculature Feeding difficulties Hypoplasia of the corpus callosum Babinski sign Acidosis Lactic acidosis Increased serum lactate Clonus Neurodevelopmental delay Petechiae Arnold-Chiari type I malformation Acrocyanosis Episodic ataxia Increased HDL cholesterol concentration Ecchymosis Tethered cord Cytochrome C oxidase-negative muscle fibers Focal T2 hyperintense basal ganglia lesion Ethylmalonic aciduria Intellectual disability, severe Immunodeficiency Recurrent infections Proteinuria Abnormality of the nervous system Irritability Respiratory tract infection Steatocystoma multiplex Renal cell carcinoma Abnormal bleeding Cerebral edema Decreased liver function Hypoalbuminemia Failure to thrive in infancy Impaired vibratory sensation Malnutrition Steatorrhea Abnormality of blood and blood-forming tissues Hypertonia Pneumonia Cough Severe vision loss Increased CSF protein Abnormal posturing Abnormality of the coagulation cascade Abducens palsy Acute encephalopathy Abnormal muscle tone Necrotizing encephalopathy Polyneuritis Acute necrotizing encephalopathy Carcinoma Abnormality of the liver Abnormality of movement Retinal degeneration Hepatic failure Abnormality of retinal pigmentation Neutropenia Decreased antibody level in blood Gastrointestinal dysmotility Fatigue Neoplasm of the nervous system Horner syndrome Ganglioneuroblastoma Adrenal calcification Opsoclonus Elevated urinary dopamine Elevated urinary catecholamines Elevated urinary homovanillic acid Elevated urinary vanillylmandelic acid Strabismus Motor delay Behavioral abnormality Paraganglioma Headache Hyperhidrosis Autism Photophobia Attention deficit hyperactivity disorder Nausea and vomiting Vertigo Migraine Anorexia Abnormal autonomic nervous system physiology Exercise intolerance Abnormality of mitochondrial metabolism Ganglioneuroma Skin nodule Pancytopenia Abnormality of chromosome stability Lymphopenia Leukopenia Macrocytic anemia IgA deficiency Acute kidney injury IgG deficiency Abnormality of the mouth Agammaglobulinemia Megaloblastic anemia Methylmalonic aciduria Stomatitis IgM deficiency Reticulocytopenia Spinal cord compression Granulocytopenia Congenital neutropenia Megaloblastic bone marrow Vitamin B12 deficiency Agranulocytosis Neoplasm Hypertension Cafe-au-lait spot Bone pain Abnormality of the thorax Neurofibromas Neuroblastoma Cold-induced muscle cramps



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