Ataxia, and Hypertriglyceridemia

Diseases related with Ataxia and Hypertriglyceridemia

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


Top matches:

Medium match PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS


PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration

Related symptoms:

  • Ataxia
  • Nystagmus
  • Micrognathia
  • Cataract
  • Babinski sign


SOURCES: OMIM MENDELIAN

More info about PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS

Medium match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2


Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG ) and TNF-alpha (OMIM ), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 Is also known as hplh2|hlh2

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2

Medium match SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY


Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

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Other less relevant matches:

Medium match DORFMAN-CHANARIN DISEASE


DORFMAN-CHANARIN DISEASE Is also known as neutral lipid storage disease with ichthyosis|nlsdi

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DORFMAN-CHANARIN DISEASE

Medium match SEA-BLUE HISTIOCYTOSIS


A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

Medium match ATAXIA WITH VITAMIN E DEFICIENCY


Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency|aved|ataxia with isolated vitamin e deficiency|isolated vitamin e deficiency|friedreich-like ataxia|ataxia, friedreich-like, with selective vitamin e deficiency

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ATAXIA WITH VITAMIN E DEFICIENCY

Medium match FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY


NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

Medium match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1


Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

Medium match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Medium match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17


Glycosylphosphatidylinositol biosynthesis defect-17 is an autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Patients may present with early-onset febrile or afebrile seizures that tend to be mild or controllable. Other features may include learning disabilities, autism, behavioral abnormalities, hypotonia, and motor deficits. The phenotype is relatively mild compared to that of other GPIBDs (summary by Nguyen et al., 2018).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17

Top 5 symptoms//phenotypes associated to Ataxia and Hypertriglyceridemia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Mental deterioration Hepatosplenomegaly Thrombocytopenia Splenomegaly Hypertonia Edema Developmental regression Hypoalbuminemia Hemophagocytosis Immunodeficiency Fever Anemia Jaundice Hypofibrinogenemia Nystagmus Abnormality of the nervous system Retinopathy Lymphadenopathy Pancytopenia Gait disturbance Leukemia Leukopenia Tremor

Rare Symptoms - Less than 30% cases


Pulmonary infiltrates Generalized edema Hypoproteinemia Increased total bilirubin CSF pleocytosis Peripheral demyelination Spasticity Increased LDL cholesterol concentration Albinism Increased serum ferritin Increased CSF protein Histiocytosis Lymphoma Skeletal muscle atrophy Purpura Hyperpigmentation of the skin Abnormal bleeding Hypopigmentation of the skin Abnormality of the eye Visual impairment Areflexia Cerebellar atrophy Partial albinism Epidermal acanthosis Cirrhosis Abnormal pyramidal sign Sensory neuropathy Encephalopathy Dystonia Spinocerebellar tract degeneration Prolonged prothrombin time Hyponatremia Rod-cone dystrophy Acanthosis nigricans Paresthesia Hypercholesterolemia Dysmetria Failure to thrive Neoplasm Lower limb muscle weakness Insulin resistance Gait ataxia Lipodystrophy Recurrent infections Elevated hepatic transaminase Irritability Coma Tetraplegia Brisk reflexes Strabismus Microcephaly Meningitis Increased intracranial pressure Encephalitis Hemiplegia Polyneuritis Abnormal natural killer cell physiology Plasmacytosis Lipogranulomatosis Steroid-resistant nephrotic syndrome Intellectual disability Atrial septal defect Absent testis Hyporeflexia Congenital nephrotic syndrome Recurrent respiratory infections Diffuse mesangial sclerosis Reduced visual acuity Primary hypothyroidism Difficulty walking Increased VLDL cholesterol concentration Decreased HDL cholesterol concentration T-cell lymphoma Increased antibody level in blood Aspiration Gliosis Hyperbilirubinemia Eosinophilia Sepsis Hemolytic anemia Abnormality of the coagulation cascade Combined immunodeficiency Episodic fever Granulocytopenia Severe combined immunodeficiency Acute leukemia Hepatic failure Prolonged partial thromboplastin time Confusion Skin rash Cellular immunodeficiency Abnormality of the liver Muscular hypotonia Autism Skin ulcer Photophobia Oculogyric crisis Iris hypopigmentation Gingivitis Periodontitis Fair hair Generalized hypopigmentation White hair Progressive peripheral neuropathy Hypersplenism Macular hypoplasia Febrile seizures Recurrent bacterial skin infections Generalized myoclonic seizures Hypopigmentation of hair Hirsutism Abnormal leukocyte morphology Recurrent cutaneous abscess formation Giant melanosomes in melanocytes Abnormality of multiple cell lineages in the bone marrow Recurrent systemic pyogenic infections Generalized hypopigmentation of hair Growth delay High palate Clinodactyly Clinodactyly of the 5th finger Aggressive behavior Gingival bleeding Generalized hyperpigmentation Rigidity Bradykinesia Spastic paraplegia Abnormality of movement Paraplegia Peripheral axonal neuropathy Incoordination Falls Bruising susceptibility Neurodegeneration Neutropenia Parkinsonism Brain atrophy Gastrointestinal hemorrhage Abnormality of extrapyramidal motor function Resting tremor Epistaxis Cutaneous photosensitivity Amblyopia Foot dorsiflexor weakness Cranial nerve paralysis Abnormality of vision Decreased nerve conduction velocity Adrenal insufficiency Finger clinodactyly Melanocytic nevus Cerebral hemorrhage Sensory axonal neuropathy Primary adrenal insufficiency Hypertrophic cardiomyopathy Focal segmental glomerulosclerosis Sleep disturbance Hyperreflexia Respiratory insufficiency Myopathy Cerebral atrophy Myoclonus Hyperactivity Respiratory failure Coarse facial features Respiratory tract infection Hepatic steatosis Neuronal loss in central nervous system Delayed speech and language development Status epilepticus Tetraparesis Generalized hirsutism Hyperinsulinemia Reduced subcutaneous adipose tissue Limb dystonia Loss of speech Progressive encephalopathy Generalized lipodystrophy Progressive psychomotor deterioration Hypertension Cognitive impairment Poor motor coordination Hyperlipidemia Micrognathia Cataract Babinski sign Congenital cataract Distal sensory impairment Hypotension Pigmentary retinopathy Abnormality of the face Clonus Pancreatitis Glucose intolerance Immune dysregulation Orthostatic hypotension Absence of subcutaneous fat Loss of subcutaneous adipose tissue in limbs Lack of facial subcutaneous fat Decreased adipose tissue around neck Vomiting Headache Diplopia Decreased liver function Abnormality of coagulation Papilledema Caudate atrophy Reduced intraabdominal adipose tissue Focal impaired awareness seizure Hypogonadism Abnormality of visual evoked potentials Fat malabsorption Xanthelasma Abetalipoproteinemia Vitamin E deficiency Tendon xanthomatosis Hearing impairment Sensorineural hearing impairment Cryptorchidism Ptosis Micropenis Hemiplegia/hemiparesis Hypothyroidism Hypoglycemia Proteinuria Ichthyosis Stage 5 chronic kidney disease Focal-onset seizure Nephrotic syndrome Lymphopenia Hypocalcemia Recurrent bacterial infections Glomerulosclerosis Steatorrhea Dysdiadochokinesis Dementia Sea-blue histiocytosis Subcutaneous nodule Cafe-au-lait spot Petechiae Autoimmune thrombocytopenia Blepharitis Mucopolysacchariduria Chronic myelogenous leukemia Mediastinal lymphadenopathy Absent axillary hair Elevated serum acid phosphatase Scoliosis Slurred speech Muscle weakness Dysarthria Cardiomyopathy Visual loss Arrhythmia Pes cavus Diabetes mellitus Nyctalopia Neurological speech impairment Malabsorption Abnormality of retinal pigmentation Dysplastic corpus callosum



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