Ataxia, and Malabsorption

Diseases related with Ataxia and Malabsorption

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


Top matches:

Medium match BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

Low match ABETALIPOPROTEINEMIA; ABL


Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL ) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014).

ABETALIPOPROTEINEMIA; ABL Is also known as microsomal triglyceride transfer protein deficiency|acanthocytosis|bassen-kornzweig syndrome|mtp deficiency

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Rod-cone dystrophy
  • Abnormality of the liver
  • Retinopathy


SOURCES: OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA; ABL

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

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Other less relevant matches:

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

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B


Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related|mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Low match AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3


The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3 Is also known as cpd iii|scar2|cpd3|cerebellar granular cell hypoplasia and mental retardation, congenital|autosomal recessive spinocerebellar ataxia type 2|cerebellar hypoplasia, nonprogressive norman type|cerebelloparenchymal disorder iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3

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 PEROXISOME BIOGENESIS DISORDER 3B; PBD3B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Low match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4


Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Low match MATERNALLY-INHERITED DIABETES AND DEAFNESS


Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Top 5 symptoms//phenotypes associated to Ataxia and Malabsorption

Symptoms // Phenotype % cases
Rod-cone dystrophy Common - Between 50% and 80% cases
Fat malabsorption Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Steatorrhea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Dysarthria Visual impairment Cataract Unsteady gait Hepatic steatosis Abetalipoproteinemia Hearing impairment Hypocholesterolemia Decreased LDL cholesterol concentration Spasticity Nystagmus Sensorineural hearing impairment Areflexia Decreased liver function Muscular hypotonia Gait disturbance Muscle weakness Generalized hypotonia Tremor Acanthocytosis Seizures Dysmetria Hepatomegaly Retinal degeneration Retinopathy Abnormality of the liver Gait ataxia Cirrhosis

Rare Symptoms - Less than 30% cases


Type II diabetes mellitus Pigmentary retinopathy Myopathy Optic atrophy Encephalopathy Polyneuropathy Constipation Ophthalmoplegia Scoliosis External ophthalmoplegia Ragged-red muscle fibers Intention tremor Sensory neuropathy Mental deterioration Hypertrophic cardiomyopathy Diabetes mellitus Arrhythmia Cardiomyopathy Dysdiadochokinesis Hyporeflexia Short stature Pes cavus Abnormality of retinal pigmentation Malnutrition Slurred speech Abnormality of the nervous system Peripheral demyelination Abnormality of the coagulation cascade Spinocerebellar tract degeneration Growth delay Vomiting Diarrhea Reduced tendon reflexes Delayed speech and language development Failure to thrive Cholestasis Retinal atrophy Depressed nasal ridge Abnormal electroretinogram Esodeviation Very long chain fatty acid accumulation Epicanthus Elevated hepatic transaminase Frontal bossing Abnormality of lipid metabolism Headache Glomerulopathy Depressivity Hypogonadism Photophobia Irritability Abnormal bleeding Single transverse palmar crease Confusion Tendon xanthomatosis Hemiplegia/hemiparesis Abnormality of visual evoked potentials Increased LDL cholesterol concentration Xanthelasma Vitamin E deficiency Left bundle branch block Hypertelorism Retinal dystrophy Strabismus Wide nasal bridge Malar flattening Osteoporosis Dry skin Flat face Progressive sensorineural hearing impairment Constriction of peripheral visual field Pancytopenia Congestive heart failure Agitation Atrophy/Degeneration affecting the brainstem Iris hypopigmentation Biliary tract abnormality Ptosis Hypertension Renal insufficiency Spastic paraparesis Myalgia Aplasia/Hypoplasia of the cerebellum Proteinuria Abnormality of the kidney Vertigo Bilateral sensorineural hearing impairment Apathy Paraparesis Nausea Macular dystrophy Distal sensory impairment Coma Abnormal retinal morphology Sensory impairment Migraine Hypercholesterolemia Vestibular dysfunction Bilateral single transverse palmar creases Intellectual disability, mild Bundle branch block Hyperglycemia Status epilepticus Hemiparesis Sensorimotor neuropathy Hypergonadotropic hypogonadism Peripheral axonal neuropathy Abnormal pyramidal sign Hypertriglyceridemia Hypokalemia Generalized muscle weakness Hepatic fibrosis Failure to thrive in infancy Leukoencephalopathy Hypoalbuminemia Cachexia Bilateral talipes equinovarus Impaired vibratory sensation Celiac disease Mitochondrial myopathy Progressive external ophthalmoplegia Hypomagnesemia Slender build Gastrointestinal dysmotility Abdominal distention Abnormality of the cerebral white matter Microcephaly Thrombocytopenia Increased HDL cholesterol concentration Steatocystoma multiplex Chronic diarrhea Hepatic failure Abnormality of movement Carcinoma Low-set ears Hypoglycemia Talipes equinovarus Ventriculomegaly Fever Anemia Abnormality of blood and blood-forming tissues Abdominal pain Respiratory failure Sensory ataxic neuropathy Abnormality of the eye Lower limb muscle weakness Dystonia Dilated fourth ventricle Saccadic smooth pursuit Nonprogressive cerebellar ataxia Skeletal muscle atrophy Abnormality of skin pigmentation Hypertonia Visual loss White hair Hypolipidemia Vitamin D deficiency Vertical supranuclear gaze palsy Developmental regression Renal cell carcinoma Nyctalopia Neurological speech impairment Abnormality of the retinal vasculature Generalized hypopigmentation Motor delay Pes planus Hyperreflexia CNS demyelination Cerebellar atrophy Behavioral abnormality Cholestatic liver disease Cerebellar hypoplasia Hypopigmentation of the skin Enlarged cisterna magna Abnormal cerebellum morphology Gliosis Limb ataxia Incoordination Gaze-evoked nystagmus Hyperactive deep tendon reflexes Ocular albinism Abnormal chorioretinal morphology



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