Ataxia, and Hyperlipidemia

Diseases related with Ataxia and Hyperlipidemia

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


Top matches:

Low match GRISCELLI SYNDROME TYPE 1


Griscelli syndrome type 1 (GS1) represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome (Menasche et al., 2002). Griscelli syndrome with immune impairment, or Griscelli syndrome type 2 (OMIM ), is caused by mutation in the RAB27A gene (OMIM ). Griscelli syndrome type 3 (OMIM ), characterized by hypomelanosis with no immunologic or neurologic manifestations, can be caused by mutation in the melanophilin (MLPH ) or MYO5A genes.Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. While most patients also develop hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation (Menasche et al., 2000), some show severe neurologic impairment early in life without apparent immune abnormalities. Bahadoran et al. (2003) characterized GS1 as comprising hypomelanosis and severe central nervous system dysfunction, corresponding to the 'dilute' phenotype in the mouse, and GS2 as comprising hypomelanosis and lymphohistiocytotic hemophagocytosis, corresponding to the 'ashen' phenotype in mouse.Anikster et al. (2002), Menasche et al. (2002), Huizing et al. (2002), and {3,2:Bahadoran et al. (2003, 2003)} suggested that Elejalde syndrome (OMIM ) in some patients and GS1 represent the same entity.

GRISCELLI SYNDROME TYPE 1 Is also known as partial albinism and primary neurologic disease without hemophagocytic syndrome|griscelli syndrome, cutaneous and neurologic type|griscelli-pruni√Čras syndrome type 1|hypopigmentation-neurologic impairment syndrome|griscelli syndrome with neurologic impair

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 1

Low 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

Low 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

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Other less relevant matches:

Low 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

Low 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

Low 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

Low match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Low 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

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Ataxia and Hyperlipidemia

Symptoms // Phenotype % cases
Hypertriglyceridemia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypertonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Retinopathy Peripheral neuropathy Thrombocytopenia Hepatosplenomegaly Hypoalbuminemia Gait disturbance Tremor Edema Developmental regression Hemophagocytosis Splenomegaly Mental deterioration Abnormality of the nervous system Nystagmus Spasticity Muscular hypotonia

Rare Symptoms - Less than 30% cases


Pulmonary infiltrates Pancytopenia Hemiplegia Encephalitis Increased intracranial pressure Leukopenia Meningitis Lymphadenopathy Tetraplegia Coma Sensory neuropathy Irritability Elevated hepatic transaminase Jaundice Aspiration Hyponatremia Increased serum ferritin Increased CSF protein Skeletal muscle atrophy Leukemia Muscle weakness Increased LDL cholesterol concentration Immunodeficiency Cirrhosis Abnormal pyramidal sign Dysarthria Encephalopathy Purpura Dystonia Myopathy Areflexia CSF pleocytosis Hypofibrinogenemia Prolonged prothrombin time Generalized edema Hypoproteinemia Histiocytosis Increased total bilirubin Rod-cone dystrophy Lipodystrophy Recurrent infections Dysmetria Epidermal acanthosis Hypopigmentation of the skin Lower limb muscle weakness Insulin resistance Partial albinism Acanthosis nigricans Hypercholesterolemia Diplopia Brisk reflexes Fever Scoliosis Gait ataxia Failure to thrive Anemia Hypertrophic cardiomyopathy Arrhythmia Diabetes mellitus Polyneuritis Visual loss Plasmacytosis Pes cavus Congenital nephrotic syndrome Nyctalopia Increased VLDL cholesterol concentration T-cell lymphoma Neurological speech impairment Abnormality of retinal pigmentation Granulocytopenia Slurred speech Dysdiadochokinesis Hemiplegia/hemiparesis Steatorrhea Cellular immunodeficiency Abnormality of visual evoked potentials Spinocerebellar tract degeneration Malabsorption Erectile abnormalities Cardiomyopathy Oligospermia Muscle fibrillation Axonal loss Abnormality of lipid metabolism Overweight Abnormality of the mouth Hand tremor Aspiration pneumonia Bulbar signs Distal lower limb amyotrophy Kinetic tremor Lipogranulomatosis Testicular atrophy Hyperlipoproteinemia Decreased LDL cholesterol concentration Tongue atrophy Limb tremor Motor neuron atrophy Exercise-induced muscle cramps Laryngospasm Proximal spinal muscular atrophy Visual impairment Decreased HDL cholesterol concentration Microcephaly Fat malabsorption Lymphoma Recurrent bacterial infections Glomerulosclerosis Focal impaired awareness seizure Focal segmental glomerulosclerosis Decreased fertility Eosinophilia Adrenal insufficiency Hyperbilirubinemia Peripheral demyelination Primary adrenal insufficiency Primary hypothyroidism Hypocalcemia Gliosis Sepsis Hemolytic anemia Diffuse mesangial sclerosis Hepatic failure Confusion Skin rash Abnormality of the liver Neoplasm Absent testis Steroid-resistant nephrotic syndrome Albinism Lymphopenia Prolonged partial thromboplastin time Hypogonadism Xanthelasma Abetalipoproteinemia Vitamin E deficiency Tendon xanthomatosis Hearing impairment Strabismus Sensorineural hearing impairment Cryptorchidism Ptosis Acute leukemia Micropenis Nephrotic syndrome Hypothyroidism Severe combined immunodeficiency Episodic fever Hypoglycemia Increased antibody level in blood Combined immunodeficiency Proteinuria Ichthyosis Stage 5 chronic kidney disease Focal-onset seizure Abnormality of the coagulation cascade Bulbar palsy Intellectual disability Impotence Hypertension Lack of facial subcutaneous fat Decreased adipose tissue around neck Vomiting Headache Decreased liver function Abnormality of coagulation Papilledema Immune dysregulation Cognitive impairment Delayed speech and language development Hyperreflexia Absence of subcutaneous fat Respiratory insufficiency Cerebellar atrophy Cerebral atrophy Myoclonus Hyperactivity Respiratory failure Coarse facial features Respiratory tract infection Hepatic steatosis Sleep disturbance Loss of subcutaneous adipose tissue in limbs Orthostatic hypotension Status epilepticus Accumulation of melanosomes in melanocytes Abnormality of movement Cerebral calcification Exotropia Severe muscular hypotonia Premature graying of hair Freckling Iris hypopigmentation White hair Silver-gray hair Generalized bronze hyperpigmentation Melanin pigment aggregation in hair shafts Glucose intolerance Micrognathia Cataract Babinski sign Congenital cataract Paresthesia Distal sensory impairment Hypotension Pigmentary retinopathy Abnormality of the face Clonus Pancreatitis Neuronal loss in central nervous system Tetraparesis Amyotrophic lateral sclerosis Neurodegeneration Hyporeflexia Elevated serum creatine phosphokinase Pneumonia Difficulty walking Proximal muscle weakness Myalgia Muscular dystrophy Limb muscle weakness Infertility Facial asymmetry Muscle cramps Pain Abnormal cerebellum morphology Type II diabetes mellitus Intention tremor Progressive muscle weakness Gynecomastia Fasciculations Dysphonia Limb-girdle muscular dystrophy Spinal muscular atrophy Calf muscle hypertrophy Dysphagia Sea-blue histiocytosis Generalized hirsutism Dementia Hyperinsulinemia Reduced subcutaneous adipose tissue Limb dystonia Loss of speech Progressive encephalopathy Generalized lipodystrophy Progressive psychomotor deterioration Caudate atrophy Poor motor coordination Reduced intraabdominal adipose tissue Abnormality of the eye Elevated serum acid phosphatase Abnormal bleeding Subcutaneous nodule Hyperpigmentation of the skin Cafe-au-lait spot Petechiae Autoimmune thrombocytopenia Blepharitis Mucopolysacchariduria Chronic myelogenous leukemia Mediastinal lymphadenopathy Absent axillary hair Abnormal natural killer cell physiology



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