Ataxia, and Hypospadias

Diseases related with Ataxia and Hypospadias

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


Top matches:

Low match DILATED CARDIOMYOPATHY WITH ATAXIA


Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Low match ACROCALLOSAL SYNDROME


Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Low match RENAL CYSTS AND DIABETES SYNDROME


Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

RENAL CYSTS AND DIABETES SYNDROME Is also known as renal dysfunction-early-onset diabetes syndrome|mody5|fjhn, atypical|cakut with diabetes|maturity-onset diabetes of the young, type 5|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabe

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CYSTS AND DIABETES SYNDROME

Low match 6Q TERMINAL DELETION SYNDROME


6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

Low match CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE


Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE Is also known as cytochrome oxidase deficiency, saguenay-lac-saint-jean type|cytochrome c oxidase deficiency, french canadian type|cytochrome c oxidase deficiency, french-canadian type|cox deficiency, french canadian type|leigh syndrome, french-canadian type|slsj-cox defi

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE

Low match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

Low match MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1


A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

Low match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Top 5 symptoms//phenotypes associated to Ataxia and Hypospadias

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Abnormal facial shape Short stature Micrognathia Lactic acidosis Acidosis Muscular hypotonia Aciduria Microcephaly Growth delay Cardiomyopathy Hypoglycemia Gait ataxia Micropenis Strabismus Hypertelorism Anteverted nares Increased serum lactate Retrognathia Intrauterine growth retardation Hypertrophic cardiomyopathy 3-Methylglutaconic aciduria Congestive heart failure Hepatic steatosis Delayed speech and language development Hyperammonemia

Rare Symptoms - Less than 30% cases


Feeding difficulties Cataract Spasticity Cleft palate Myopia Cerebellar hypoplasia Encephalopathy Abnormal heart morphology Gliosis Stroke Small for gestational age Autism Coma Abnormality of cardiovascular system morphology Abnormality of the kidney Pancreatitis Hypoplasia of the corpus callosum Nystagmus Thick vermilion border Highly arched eyebrow Low anterior hairline Wide nasal bridge Tremor Absent speech Intellectual disability, mild Long philtrum Renal hypoplasia Intention tremor Obesity Hirsutism Leukoencephalopathy Cerebral cortical atrophy Diabetes mellitus Metabolic acidosis Prominent forehead Low-set ears Wide mouth Intellectual disability, severe Flexion contracture Inguinal hernia Polydactyly Microvesicular hepatic steatosis Postaxial polydactyly Sloping forehead Macrocephaly Short philtrum Oligohydramnios Arrhythmia Hypertension Aplasia/Hypoplasia of the corpus callosum Motor delay Hepatomegaly Respiratory insufficiency Broad-based gait Hyperalaninemia Flat face Gastroparesis Camptodactyly of finger Intellectual disability, moderate Dysphagia Truncal ataxia Respiratory distress Dystonia Malar flattening Midface retrusion Neonatal hypotonia Decreased liver function Umbilical hernia Developmental regression Abnormality of the cerebral cortex Cerebellar atrophy Severe lactic acidosis Peripheral demyelination Severe failure to thrive Dolichocephaly Severe muscular hypotonia Rocker bottom foot Respiratory failure Phimosis Aplasia/Hypoplasia of the ribs Heterotopia Flat occiput Encephalitis Hypermetropia Dysmetria Polymicrogyria Microretrognathia High, narrow palate Pulmonary arterial hypertension Wide intermamillary distance Hypsarrhythmia Abnormality of the cerebral white matter Short palpebral fissure Gynecomastia Abnormal aortic valve morphology Interphalangeal joint contracture of finger Moderate global developmental delay Plagiocephaly Infantile muscular hypotonia Abnormality of neuronal migration Hallux valgus Prominent metopic ridge Broad philtrum Premature birth Colpocephaly Talipes calcaneovalgus Periventricular gray matter heterotopia Shock Stroke-like episode Tachypnea Lower limb spasticity Downturned corners of mouth Low-set, posteriorly rotated ears Pulmonic stenosis Prominent nasal bridge Broad nasal tip Full cheeks Round face Growth hormone deficiency Hypoplasia of penis Tetraparesis Open mouth Camptodactyly Progressive microcephaly Long face Spastic tetraparesis Widely spaced teeth Drooling Agitation External genital hypoplasia Depressed nasal tip Large earlobe Male hypogonadism Abdominal obesity Frontal bossing Birth length less than 3rd percentile Tall chin Inability to walk Poor speech Poor suck Babinski sign Hyperglycemia Anteriorly placed anus Increased CSF lactate Breathing dysregulation CNS demyelination Congenital lactic acidosis Increased hepatocellular lipid droplets Hyperreflexia Talipes equinovarus Ventriculomegaly Hypertonia Spontaneous abortion Hypogonadism Delayed puberty Hyperactivity Macrotia Difficulty walking EEG abnormality Aggressive behavior Muscular hypotonia of the trunk Cleft lip Cardiac arrest Attention deficit hyperactivity disorder Aortic valve stenosis Cardiomegaly Severe global developmental delay Tapered finger Maturity-onset diabetes of the young Joint laxity Depressed nasal bridge Abnormality of the clavicle High palate Ventricular septal defect Astigmatism Hypotelorism Rhizomelia Coxa valga Accelerated skeletal maturation Scrotal hypoplasia Metaphyseal widening 2-3 toe syndactyly Scaphocephaly Obstructive sleep apnea Broad femoral neck Epicanthus Molar tooth sign on MRI Irritability Acute hepatic failure Thick lower lip vermilion Hepatic failure Confusion Smooth philtrum Lethargy Mental deterioration Peripheral neuropathy Carcinoma Thin upper lip vermilion Cerebral atrophy Headache Vomiting Edema Nephronophthisis Prominent occiput Episodic ataxia Mitral regurgitation Nonprogressive cerebellar ataxia Perineal hypospadias Microcytic anemia Hypokinesia Prolonged QT interval Abnormality of the genital system Decreased testicular size Testicular dysgenesis Sudden cardiac death Dilated cardiomyopathy Postnatal growth retardation Optic atrophy Anemia Muscle weakness Glutaric aciduria Noncompaction cardiomyopathy Aplasia/Hypoplasia of the cerebellum Ambiguous genitalia Triphalangeal thumb Oculomotor apraxia Wide anterior fontanel Tall stature Apraxia Congenital diaphragmatic hernia Postaxial hand polydactyly 3-Methylglutaric aciduria Dandy-Walker malformation Retinal dystrophy Retinopathy Sensorineural hearing impairment Normochromic microcytic anemia Penile hypospadias Alkalosis Cerebral edema Hyperkeratosis Uterus didelphys Hypoplasia of the uterus Glycosuria Glomerulopathy Hyperuricemia Acute kidney injury Proportionate short stature Renal cell carcinoma Exocrine pancreatic insufficiency Gout Elevated serum creatinine Bicornuate uterus Biliary tract abnormality Ureteropelvic junction obstruction Pancreatic hypoplasia Renal Fanconi syndrome Unilateral renal agenesis Abnormality of exocrine pancreas physiology Clinodactyly Short neck Scoliosis Abnormality of alkaline phosphatase activity Atretic vas deferens Abnormality of endocrine pancreas physiology Aplasia/Hypoplasia of the pancreas Reduced sperm motility Decreased numbers of nephrons Papillary cystadenoma of the epididymis Epididymal cyst Absent vas deferens Multiple glomerular cysts Renal cortical cysts Glucose intolerance Polydipsia Episodic vomiting Episodic ammonia intoxication Mandibular prognathia Hypothyroidism Renal insufficiency Abnormality of the dentition Hearing impairment Low plasma citrulline Hyperglutaminemia Elevated hepatic transaminase Protein avoidance Hypoargininemia Respiratory alkalosis Oroticaciduria Paranoia Wide nasal base Jaundice Arthritis Pyloric stenosis Renal dysplasia Chronic kidney disease Spastic paraparesis Multicystic kidney dysplasia Paraparesis Horseshoe kidney Nephrolithiasis Renal agenesis Proteinuria Renal cyst Nephropathy Stage 5 chronic kidney disease Joint hyperflexibility Infertility Abnormality of the liver Abnormal pulmonary valve morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Parkinsonism, related diseases and genetic alterations Skeletal muscle atrophy and Camptodactyly, related diseases and genetic alterations Cleft palate and Mandibular prognathia, related diseases and genetic alterations Hypertension and Lymphedema, related diseases and genetic alterations Nystagmus and Dyspnea, related diseases and genetic alterations Cataract and Nephroblastoma, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more