Ataxia, and Weight loss

Diseases related with Ataxia and Weight loss

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


Top matches:

Medium match HUNTINGTON DISEASE-LIKE 2


Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.

HUNTINGTON DISEASE-LIKE 2 Is also known as hdl2

Related symptoms:

  • Seizures
  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HUNTINGTON DISEASE-LIKE 2

Medium match PANCREATIC CANCER


Pancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by Amundadottir et al., 2009). Genetic Heterogeneity of Pancreatic CancerSomatic mutations in pancreatic cancer occur in the KRAS (OMIM ), CDKN2A (OMIM ), MADH4 (OMIM ), TP53 (OMIM ), ARMET (OMIM ), STK11 (OMIM ), ACVR1B (OMIM ), and RBBP8 (OMIM ) genes.Susceptibility loci for pancreatic cancer include PNCA1 (OMIM ), related to mutation in the PALLD gene on chromosome 4q32 (OMIM ); PNCA2 (OMIM ), related to mutation in the BRCA2 gene on chromosome 13q12 (OMIM ); PNCA3 (OMIM ), related to mutation in the PALB2 gene on chromosome 16p12 (OMIM ); and PNCA4 (OMIM ), related to mutation in the BRCA1 gene on chromosome 17q21 (OMIM ). Occurrence of Pancreatic Cancer in Other DisordersSeveral familial cancer syndromes increase the risk of pancreatic cancer. The best characterized include hereditary nonpolyposis colon cancer syndrome (HNPCC; see {120435}); hereditary breast-ovarian cancer syndrome due to mutations in BRCA2; Peutz-Jeghers syndrome (OMIM ); the melanoma-pancreatic cancer syndrome (OMIM ), caused by mutations in CDKN2A (OMIM ); von Hippel-Lindau syndrome (OMIM ), ataxia-telangiectasia (OMIM ) (Swift et al., 1976), and juvenile polyposis syndrome (OMIM ).Patients with hereditary pancreatitis (OMIM ) resulting from gain-of-function mutations in the protease serine-1 gene (PRSS1 ) have a lifetime pancreatic cancer risk ratio of 57 and a cumulative incidence, to age 70 years, of 40% (Lowenfels et al., 1997).

PANCREATIC CANCER Is also known as pancreatic carcinoma|pancreatic acinar carcinoma

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Fatigue
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PANCREATIC CANCER

Medium match HUNTINGTON DISEASE-LIKE 1


HUNTINGTON DISEASE-LIKE 1 Is also known as early-onset prion disease with prominent psychiatric features|hln1|prion disease, early-onset, with prominent psychiatric features|hdl1|huntington-like neurodegenerative disorder 1|huntington-like neurodegenerative disorder, autosomal dominant

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Cognitive impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HUNTINGTON DISEASE-LIKE 1

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Other less relevant matches:

Medium match CLASSIC GALACTOSEMIA


Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

CLASSIC GALACTOSEMIA Is also known as galt deficiency|galactose-1-phosphate uridyltransferase deficiency|galactosemia type 1

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Failure to thrive
  • Cataract
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC GALACTOSEMIA

Medium match LYMPHOMA, HODGKIN, CLASSIC; CHL


Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).

LYMPHOMA, HODGKIN, CLASSIC; CHL Is also known as hodgkin disease

Related symptoms:

  • Ataxia
  • Neoplasm
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHOMA, HODGKIN, CLASSIC; CHL

Medium match INFANTILE NEUROAXONAL DYSTROPHY


Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.

INFANTILE NEUROAXONAL DYSTROPHY Is also known as inad|neuroaxonal dystrophy, atypical|seitelberger disease|neurodegeneration with brain iron accumulation, pla2g6-related|inad1|phospholipase a2-associated neurodegeneration|plan

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE NEUROAXONAL DYSTROPHY

Medium match MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY


Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. Renal tubular involvement may also occur (Bourdon et al., 2007).Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY Is also known as mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive|mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY

Medium match HOLOCARBOXYLASE SYNTHETASE DEFICIENCY


Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Is also known as multiple carboxylase deficiency, neonatal form|hlcs deficiency|neonatal multiple carboxylase deficiency|multiple carboxylase deficiency, early onset|early-onset multiple carboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

Medium 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

Top 5 symptoms//phenotypes associated to Ataxia and Weight loss

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Gait ataxia Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Neoplasm Unsteady gait Failure to thrive Feeding difficulties Nausea and vomiting Chorea Bradykinesia Gait disturbance Bone pain Cachexia

Rare Symptoms - Less than 30% cases


Ophthalmoplegia Lactic acidosis Delayed speech and language development Cerebellar atrophy Hypertonia Mental deterioration Abnormality of eye movement Dysmetria Muscular hypotonia Gliosis Anemia Intellectual disability Skin rash Acidosis Thrombocytopenia Tremor Vomiting Lethargy Anorexia Peripheral neuropathy Myoclonus Fever Respiratory insufficiency Nystagmus Global brain atrophy Delusions Abdominal pain Involuntary movements Memory impairment Neurodegeneration Falls Abnormality of movement Irritability Anxiety Cerebral cortical atrophy Dementia Depressivity Pain Rigidity Jaundice Dystonia Behavioral abnormality Personality changes Short attention span Spastic tetraparesis Elevated urinary dopamine Neuronal loss in central nervous system Ptosis Muscle weakness Sensorineural hearing impairment Hearing impairment Increased cerebral lipofuscin Elevated serum acid phosphatase Erlenmeyer flask deformity of the femurs Hypersplenism Intention tremor Loss of consciousness Elevated urinary catecholamines Tetraparesis Generalized-onset seizure Talipes calcaneovalgus Abdominal mass Alzheimer disease Aceruloplasminemia Toe walking Intellectual disability, mild Impaired smooth pursuit Emotional lability Impulsivity Elevated urinary homovanillic acid Dysdiadochokinesis Osteopenia Hepatosplenomegaly Abnormal pyramidal sign Neurofibrillary tangles Lewy bodies Abnormal cerebellum morphology Abnormality of the thorax Areflexia Spinal cord compression Aciduria Neoplasm of the nervous system Ganglioneuroma Paraganglioma Skin nodule Eczema Inflammatory abnormality of the skin Tachypnea Hyperammonemia Hyperventilation Metabolic acidosis Neuroblastoma Neurofibromas Organic aciduria Keratoconjunctivitis Desquamation of skin soon after birth Congenital lactic acidosis Perioral eczema Hypertension Diarrhea Coma Hypotrichosis Cafe-au-lait spot Progressive neurologic deterioration Opsoclonus Adrenal calcification Ganglioneuroblastoma Neonatal hypotonia Horner syndrome Nausea Polyneuropathy Generalized muscle weakness Increased serum lactate Progressive muscle weakness Feeding difficulties in infancy Aminoaciduria External ophthalmoplegia Ragged-red muscle fibers Gastrointestinal dysmotility Proximal tubulopathy Global developmental delay Growth delay Respiratory distress Alopecia Progressive cerebellar ataxia Brain atrophy Lymphoma Developmental regression Incoordination Increased level of L-fucose in urine Cognitive impairment Ventriculomegaly Encephalopathy EEG abnormality Aggressive behavior Clumsiness Frequent falls Slurred speech Chronic pancreatitis Mask-like facies Hypokinesia Hyperactive deep tendon reflexes Restlessness Slow saccadic eye movements Abnormality of the basal ganglia Poor fine motor coordination Abnormal posturing Mania Pancreatic adenocarcinoma Neoplasm of the pancreas Abnormal saccadic eye movements Caudate atrophy Hyperreflexia Parkinsonism Hallucinations Apathy Action tremor Acanthocytosis Primitive reflex Functional motor deficit Abnormal corpus striatum morphology Exocrine pancreatic insufficiency Abnormality of the cerebrum Diabetes mellitus Carcinoma Telangiectasia Pancreatitis Melanoma Breast carcinoma Colon cancer Ovarian neoplasm Abnormality of the shoulder Abnormality of higher mental function Muscular hypotonia of the trunk Monoclonal immunoglobulin M proteinemia Migraine Bone marrow hypocellularity Osteolysis Hodgkin lymphoma Hemoptysis Poor appetite Cellular immunodeficiency Lung adenocarcinoma Impaired lymphocyte transformation with phytohemagglutinin Lymphadenopathy Polyclonal elevation of IgM Strabismus Spasticity Visual impairment Optic atrophy Dysphagia Cerebral atrophy Babinski sign Hyperactivity Chest pain Pruritus Jerky ocular pursuit movements Abnormal bleeding Abnormality of ocular smooth pursuit Abnormal head movements Jerky head movements Basal ganglia gliosis Simultanapraxia Cataract Osteoporosis Hypoglycemia Hepatic failure Sepsis Leukemia Speech apraxia Abnormality of the ovary Decreased fertility in females Speech articulation difficulties Impairment of galactose metabolism Hepatomegaly Splenomegaly Hyperhidrosis Cough Elevated urinary vanillylmandelic acid



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Anorexia, related diseases and genetic alterations Congestive heart failure and Cerebral cortical atrophy, related diseases and genetic alterations Fever and Frontal bossing, related diseases and genetic alterations Hyperreflexia and Neurodegeneration, related diseases and genetic alterations Muscle weakness and Diarrhea, related diseases and genetic alterations Hypertelorism and Muscular hypotonia of the trunk, related diseases and genetic alterations

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