Ataxia, and Type I diabetes mellitus

Diseases related with Ataxia and Type I diabetes mellitus

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


Top matches:

Medium match POLYENDOCRINE-POLYNEUROPATHY SYNDROME


Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about POLYENDOCRINE-POLYNEUROPATHY SYNDROME

Medium match JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME


JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME Is also known as combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME

Medium match ACERULOPLASMINEMIA


Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

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Other less relevant matches:

Medium match MYOPATHY AND DIABETES MELLITUS


MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYOPATHY AND DIABETES MELLITUS

Medium match CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1


Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Failure to thrive
  • Anemia


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

Medium match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY


Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY

Medium match MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2


Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Medium match ALLAN-HERNDON-DUDLEY SYNDROME


Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Medium match WOLFRAM SYNDROME 1; WFS1


Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011).Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (OMIM ) as well as a Wolfram syndrome-like phenotype (OMIM ) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. Genetic Heterogeneity of Wolfram SyndromeWolfram syndrome-2 (WFS2 ) is caused by mutation in the CISD2 gene (OMIM ) on chromosome 4q24.

WOLFRAM SYNDROME 1; WFS1 Is also known as diabetes insipidus and mellitus with optic atrophy and deafness|wfs|didmoad

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WOLFRAM SYNDROME 1; WFS1

Medium match ISOLATED ANIRIDIA


Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Top 5 symptoms//phenotypes associated to Ataxia and Type I diabetes mellitus

Symptoms // Phenotype % cases
Diabetes mellitus Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Hypothyroidism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Type I diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Tremor Gait ataxia Short stature Spasticity Nystagmus Peripheral neuropathy Seizures Cognitive impairment Rigidity Hypogonadism Fatigue Hypertonia Macrotia Abnormal facial shape Depressivity Difficulty walking Generalized hypotonia Babinski sign Microcephaly Hypoplasia of the corpus callosum Global developmental delay Ptosis Growth delay Gait disturbance Sensorineural hearing impairment Dystonia Motor delay

Rare Symptoms - Less than 30% cases


Muscle weakness Muscular hypotonia Hyporeflexia Cryptorchidism Irritability Type II diabetes mellitus Postnatal growth retardation Diarrhea Alopecia Intellectual disability, severe Pectus excavatum Weight loss Hand tremor Anxiety Intellectual disability, moderate Delayed puberty Arachnodactyly Hyperreflexia Dysphagia Cerebellar hypoplasia Myoclonus Glaucoma Anosmia Cerebral atrophy Polyuria Truncal ataxia Blindness Cataract Abnormal glucose tolerance Cerebral calcification Hyperactive deep tendon reflexes Infertility Sensory neuropathy Cerebellar atrophy Abnormality of the nervous system Polyneuropathy Dementia Behavioral abnormality Atrophy/Degeneration affecting the brainstem Central hypothyroidism Anemia Neurodegeneration Involuntary movements Memory impairment Feeding difficulties in infancy Underfolded superior helices Stahl ear Increased serum lactate Abnormal conjugate eye movement Prominent antihelix Optic atrophy Increased thyroid-stimulating hormone level Rotary nystagmus Protruding ear Hypoplasia of the musculature Delayed CNS myelination Abnormality of the pinna Dilatation Cardiomyopathy Abnormal bleeding Skeletal muscle atrophy Malar flattening Absent speech Upslanted palpebral fissure Vesicoureteral reflux Proptosis Pes planus Thrombocytopenia Apnea Aggressive behavior Hydronephrosis Respiratory failure Neonatal hypotonia Constipation Joint stiffness Abnormality of the neck Camptodactyly of finger Clonus Muscle stiffness Bilateral single transverse palmar creases Paraplegia Long face Narrow face Inability to walk Tetraplegia Hypoplasia of the antihelix Generalized muscle weakness Leukodystrophy Choreoathetosis Urinary incontinence Open mouth Interphalangeal joint contracture of finger Spastic tetraplegia Intellectual disability, progressive Abnormality of movement Narrow forehead Abnormality of the foot Macroorchidism Hypoplasia of the zygomatic bone Severe global developmental delay Spastic paraplegia Central hypotonia Biparietal narrowing Generalized amyotrophy Drooling Bowel incontinence Aphasia Hallux valgus Myopathic facies Athetosis CNS hypomyelination Poor head control Macular hypoplasia Dyschromatopsia Aplasia/Hypoplasia of the macula Choanal atresia Optic nerve hypoplasia Opacification of the corneal stroma Narrow palate Exotropia Amblyopia Dental crowding Renal dysplasia Recurrent urinary tract infections Dandy-Walker malformation Ectopia lentis Microcornea Hypopigmentation of the skin Lumbar kyphosis Retinal detachment Polymicrogyria Falls Smooth philtrum Congenital cataract Bilateral ptosis Nephroblastoma Coloboma Action tremor Vascular tortuosity Retinal vascular tortuosity Lower limb hypertonia Ocular pain Decreased light- and dark-adapted electroretinogram amplitude Peters anomaly Hyposmia Ectopia pupillae Hypoplasia of the fovea Anophthalmia Hypoplasia of the iris Central adrenal insufficiency Aphakia Limb hypertonia Aniridia Hypopituitarism Adrenal insufficiency Albinism Attention deficit hyperactivity disorder Muscular hypotonia of the trunk Dehydration Polyphagia Central diabetes insipidus Histiocytosis Testicular atrophy Stroke-like episode Neurogenic bladder Central apnea Megaloblastic anemia Severe sensorineural hearing impairment Blurred vision Pollakisuria Hydroureter Diabetes insipidus Abnormality of the urinary system Sleep apnea Leukoencephalopathy Hypergonadotropic hypogonadism Psychosis Pigmentary retinopathy Respiratory arrest Sideroblastic anemia High forehead Depressed nasal bridge Reduced visual acuity Micropenis Hyperactivity Agenesis of corpus callosum Visual loss Microphthalmia Kyphosis Anteverted nares High palate Gastric ulcer Pain Strabismus Neoplasm Hypertelorism Limited mobility of proximal interphalangeal joint Impaired collagen-induced platelet aggregation Feeding difficulties Central sleep apnea Diffuse leukoencephalopathy Intrauterine growth retardation Flexion contracture Proximal amyotrophy Abdominal pain Osteoporosis Vomiting Failure to thrive Weakness of orbicularis oculi muscle Decreased activity of mitochondrial complex IV Peripheral arterial stenosis Mitochondrial myopathy Elevated hepatic transaminase EMG: myopathic abnormalities Ragged-red muscle fibers Exercise intolerance Progressive muscle weakness Limb muscle weakness Facial palsy Myalgia Arthralgia Autoimmunity Elevated serum creatine phosphokinase Abnormal intestine morphology IgA deficiency Macrocytic anemia Celiac disease Steatorrhea Malnutrition Abnormality of the coagulation cascade Rickets Spontaneous abortion Malabsorption Hypocalcemia Chronic diarrhea Hypoplasia of dental enamel Inflammatory abnormality of the skin Eczema Lymphoma Nevus Abdominal distention Proximal muscle weakness Myopathy Iron deficiency anemia Decreased body weight Respiratory distress Delayed speech and language development Atrophy of the spinal cord Sensory ataxia Areflexia of lower limbs Demyelinating peripheral neuropathy Sensorimotor neuropathy Bilateral sensorineural hearing impairment Poor speech Areflexia Intellectual disability, mild Glucose intolerance Progressive hearing impairment Abnormal pyramidal sign Hypoglycemia Pes cavus Congestive heart failure Confusion Aceruloplasminemia Increased serum ferritin Decreased serum iron Elevated hepatic iron concentration Decreased serum ceruloplasmin Refractory anemia Scanning speech Cogwheel rigidity Blepharospasm Muscle fibrillation Retinal degeneration Slurred speech Hyperkinesis Cerebral palsy Torticollis Abnormality of extrapyramidal motor function Chorea Parkinsonism Cirrhosis Thyroiditis Thrombocytosis Scoliosis Delayed skeletal maturation Downturned corners of mouth Dysmetria Small for gestational age Sparse hair Hyperlordosis Kyphoscoliosis Narrow mouth Downslanted palpebral fissures Delayed myelination Epicanthus Micrognathia Abnormal motor evoked potentials Abnormality of the sella turcica Parietal cortical atrophy Old-aged sensorineural hearing impairment Abnormal involuntary eye movements Full cheeks Round face Delayed menarche High pitched voice Increased vertebral height Kinetic tremor Recurrent hypoglycemia Prominent superficial veins Maternal diabetes Down-sloping shoulders Ketoacidosis Brisk reflexes Hypotelorism Hyperglycemia Hypoplasia of the brainstem Polydipsia Oligodontia Abnormal vertebral morphology Fine hair Renal hypoplasia Blue sclerae Iridocyclitis Saccadic smooth pursuit Chronic fatigue Vitamin B12 deficiency Progressive cerebellar ataxia Postural instability Distal amyotrophy Peripheral axonal neuropathy Unsteady gait Ophthalmoplegia Neurological speech impairment Vitamin K deficiency Limb ataxia Vitamin D deficiency Folate deficiency Abnormality of the abdominal wall Prolonged prothrombin time Recurrent aphthous stomatitis Stomatitis Prolonged partial thromboplastin time Lower limb spasticity Horizontal nystagmus Speech apraxia Retinal atrophy Impaired proprioception Ulcerative colitis Corpus callosum atrophy Head tremor Hypoplasia of the pons Progeroid facial appearance Oligomenorrhea Uveitis Oculomotor apraxia Colitis Ankle clonus Gaze-evoked nystagmus Sensory axonal neuropathy Postural tremor Adducted thumb External ophthalmoplegia Pancreatitis Increased proinsulin:insulin ratio



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