Ataxia, and Recurrent urinary tract infections

Diseases related with Ataxia and Recurrent urinary tract infections

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

Top matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.

POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME Is also known as pcarp|autosomal recessive posterior column ataxia and retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME

Other less relevant matches:

Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.

HEREDITARY FOLATE MALABSORPTION Is also known as congenital folate malabsorption

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY FOLATE MALABSORPTION

Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

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

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Top 5 symptoms//phenotypes associated to Ataxia and Recurrent urinary tract infections

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Pneumonia Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Ataxia and Recurrent urinary tract infections. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Cataract Immunodeficiency Tremor Failure to thrive Respiratory insufficiency Microcephaly Nystagmus Rod-cone dystrophy Abnormal facial shape Thrombocytopenia Visual impairment Depressed nasal bridge Malabsorption Gait ataxia Dementia Nephropathy Neutropenia Skeletal muscle atrophy Short stature Hearing impairment Neoplasm Depressivity Chronic diarrhea Otitis media Sinusitis Feeding difficulties in infancy Visual loss Peripheral neuropathy Muscle weakness Lymphopenia Diarrhea Blindness Smooth philtrum Muscular hypotonia Macrotia Behavioral abnormality High forehead

Rare Symptoms - Less than 30% cases

Mental deterioration Micrognathia Sensorineural hearing impairment Hypertonia Short neck Megaloblastic anemia Anorexia Upslanted palpebral fissure Hemolytic anemia Recurrent infections Abnormality of skin pigmentation Pancytopenia Ectopia lentis Decreased antibody level in blood Sepsis Renal insufficiency Retinal degeneration Recurrent respiratory infections Growth delay High palate Exotropia Weight loss Hypertelorism Hyperactivity Myelopathy Cor pulmonale Recurrent pneumonia Telangiectasia Retinopathy Arthritis Intellectual disability, moderate Renal dysplasia Attention deficit hyperactivity disorder Congenital cataract Glaucoma Cerebral cortical atrophy Diabetes mellitus Hypogonadism Myopathy Hypoplasia of the corpus callosum Choanal atresia Reduced visual acuity Recurrent lower respiratory tract infections Motor delay Broad-based gait Pigmentary retinopathy Urinary incontinence Abnormality of movement Kyphosis Autoimmune hemolytic anemia Lymphoma Osteomyelitis Optic atrophy Lymph node hypoplasia Recurrent bacterial infections Anteverted nares Recurrent upper respiratory tract infections Low-set ears Ptosis Hydronephrosis Delayed speech and language development Scarring Nyctalopia Leukemia T-cell lymphoma Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract Pollakisuria Feeding difficulties Highly arched eyebrow B lymphocytopenia Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Cleft palate Progressive vitiligo Progressive visual loss Abnormality of chromosome stability Lower limb muscle weakness Joint hypermobility Long face Lumbar kyphosis Aplasia/Hypoplasia of the macula Paresthesia Unsteady gait Hypoplasia of the antihelix Confusion Lethargy Hypertension Hip dislocation Proteinuria Difficulty walking Acidosis Increased proinsulin:insulin ratio Congestive heart failure Intellectual disability, severe Hydrocephalus Intrauterine growth retardation Recurrent sinopulmonary infections Medulloblastoma Abnormality of the nervous system Cafe-au-lait spot Bronchiectasis Abnormality of the face Primary amenorrhea Cutaneous photosensitivity Retrognathia Sloping forehead Telecanthus Low anterior hairline Amenorrhea Convex nasal ridge Prominent nose Neurodegeneration Prominent nasal bridge Small for gestational age Cleft upper lip Abnormality of the hair Respiratory failure Anal atresia Hypospadias B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Acute leukemia Hearing abnormality Acute lymphoblastic leukemia Anal stenosis Neuroblastoma Cachexia Abnormality of the musculature Freckling Long nose Non-midline cleft lip Combined immunodeficiency Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Bowel incontinence Memory impairment Hematuria Renal cyst Hepatic fibrosis Short phalanx of finger Cholestasis Sparse scalp hair Narrow forehead Microdontia Bifid uvula Macroglossia Delayed eruption of teeth Short ribs Retinal dystrophy Postaxial polydactyly Short distal phalanx of finger Oral cleft Stage 5 chronic kidney disease Craniosynostosis Wide mouth Abnormality of the kidney Low-set, posteriorly rotated ears Wide anterior fontanel Cutis laxa Umbilical hernia Thoracic dysplasia Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Frontal upsweep of hair Accessory oral frenulum Pyelonephritis Hypoplasia of the capital femoral epiphysis Pancreatic cysts Congenital hepatic fibrosis Cholangitis Cone-shaped epiphyses of the phalanges of the hand Widely spaced teeth Scaphocephaly Prominent metopic ridge Acute kidney injury Abnormal retinal morphology Nephronophthisis Short thorax Short femoral neck Cone-shaped epiphysis Trigonocephaly Cleft lip Skeletal dysplasia Hepatic steatosis Apathy Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Homocystinuria Methylmalonic aciduria Thromboembolism Disproportionate tall stature Hemiplegia Abnormality of macular pigmentation Slurred speech Atherosclerosis Abnormality of retinal pigmentation Pulmonary arterial hypertension Psychosis Abnormality of extrapyramidal motor function Central adrenal insufficiency Aciduria Metabolic acidosis Chronic hemolytic anemia Delirium Polydactyly Thyroglossal cyst Prominent forehead Posteriorly rotated ears Hernia Frontal bossing Wide nasal bridge Brachydactyly Hepatomegaly Epicanthus Cognitive impairment Cystathioninemia Urogenital fistula Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Aphakia Decreased light- and dark-adapted electroretinogram amplitude Vascular tortuosity Gait disturbance Recurrent opportunistic infections Cerebral vasculitis Brain abscess Constipation Abnormality of B cell physiology Cardiomyopathy Scoliosis Dysarthria Folate-responsive megaloblastic anemia Developmental regression Glossitis Folate deficiency Oral ulcer Normocytic anemia Cheilitis Intellectual disability, mild Proximal amyotrophy Drowsiness Abnormal T cell morphology Joint stiffness Basal ganglia calcification Male hypogonadism Fatigue Fever Impaired T cell function Hypouricemia Pure red cell aplasia Abnormality of mesentery morphology Gastric ulcer Central apnea Dysuria Ophthalmoplegia Diabetes insipidus Polydipsia Abnormality of the urinary system Abnormal autonomic nervous system physiology Hallucinations Gastrointestinal hemorrhage Sleep disturbance Autoimmune neutropenia Delayed puberty Macrocytic anemia Abnormality of the immune system Recurrent viral infections Sensory ataxia Abnormality of peripheral nerves Ring scotoma Flexion contracture of finger Truncal titubation Abnormality of the spinal cord Decreased sensory nerve conduction velocity Positive Romberg sign Titubation Chronic pain Hyperreflexia Decreased number of large peripheral myelinated nerve fibers Gastrointestinal dysmotility Impaired proprioception Bone spicule pigmentation of the retina Acanthocytosis Achalasia Undetectable electroretinogram Impaired vibration sensation in the lower limbs Scotoma Abnormal sensory nerve conduction velocity Vomiting Athetosis Distal muscle weakness Eosinophilia Leukopenia Increased body weight Aspiration Areflexia Camptodactyly Cerebral calcification Focal-onset seizure Sensory neuropathy Delayed gross motor development Dyskinesia Muscle cramps Nausea and vomiting Pallor Respiratory tract infection Irritability Gastroesophageal reflux Limb ataxia Joint contracture of the hand Dilatation Encephalopathy Macular hypoplasia Oculomotor apraxia Optic nerve hypoplasia Opacification of the corneal stroma Narrow palate Type I diabetes mellitus Cerebellar vermis hypoplasia Amblyopia Dental crowding Multicystic kidney dysplasia Dandy-Walker malformation Bilateral ptosis Microcornea Hypopigmentation of the skin Retinal detachment Polymicrogyria Falls Arachnodactyly Cone/cone-rod dystrophy Molar tooth sign on MRI Spasticity Anosmia Apraxia Muscular hypotonia of the trunk Ectopia pupillae Retinal vascular tortuosity Central hypothyroidism Lower limb hypertonia Abnormal glucose tolerance Ocular pain Axonal degeneration Peters anomaly Hyposmia Action tremor Nephroblastoma Hypoplasia of the fovea Hand tremor Hypoplasia of the iris Limb hypertonia Aniridia Hypopituitarism Adrenal insufficiency Albinism Anophthalmia Coloboma Rigidity Alopecia Hypopigmented skin patches Agammaglobulinemia Glossoptosis Bronchitis Cellulitis Chronic otitis media Rheumatoid arthritis Encephalitis Recurrent skin infections Conjunctivitis Abnormality of the lymphatic system Hypocalcemia Meningitis Skin ulcer Spastic diplegia Abnormal lung morphology Hepatitis Skin rash Autoimmunity Autoimmune thrombocytopenia Spastic tetraparesis Thymoma Splenomegaly Pain Hypothyroidism Babinski sign Micropenis Abnormal pyramidal sign Agenesis of corpus callosum Microphthalmia Tetraplegia Cryptorchidism Strabismus Pyoderma Spastic tetraplegia Tetraparesis Enteroviral hepatitis Enteroviral dermatomyositis syndrome Prostatitis Epididymitis Abnormality of the tonsils Septic arthritis Recurrent cutaneous abscess formation Absence of renal corticomedullary differentiation


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