Cryptorchidism, and Lactic acidosis

Diseases related with Cryptorchidism and Lactic acidosis

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


Top matches:

Medium 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

Medium 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

Medium match MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1


Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

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Other less relevant matches:

Medium 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

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

Low match GLYCEROL KINASE DEFICIENCY; GKD


Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

Low match CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY


Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.

CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY Is also known as cah due to 3-beta-hydroxysteroid dehydrogenase deficiency

Related symptoms:

  • Cryptorchidism
  • Feeding difficulties
  • Vomiting
  • Hypospadias
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY

Low match INHERITED ISOLATED ADRENAL INSUFFICIENCY DUE TO PARTIAL CYP11A1 DEFICIENCY


Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.

Related symptoms:

  • Failure to thrive
  • Cryptorchidism
  • Feeding difficulties
  • Vomiting
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about INHERITED ISOLATED ADRENAL INSUFFICIENCY DUE TO PARTIAL CYP11A1 DEFICIENCY

Low match CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY


Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Related symptoms:

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

Low match NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY


Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Cryptorchidism and Lactic acidosis

Symptoms // Phenotype % cases
Acidosis Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Metabolic acidosis Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Lactic acidosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Vomiting Abnormal facial shape Low-set ears Feeding difficulties Hypospadias Muscular hypotonia Strabismus Short stature Hypotension Hyponatremia Epicanthus Aciduria Hyperkalemia Flexion contracture Osteoporosis Failure to thrive Ataxia Delayed puberty Small for gestational age Intellectual disability Increased serum lactate Hypertonia Microcephaly Growth delay

Rare Symptoms - Less than 30% cases


Hypovolemia Short philtrum Hypernatriuria Female external genitalia in individual with 46,XY karyotype Abnormal sex determination Oligohydramnios Hyperreflexia Reduced bone mineral density Gynecomastia Wide mouth Hyperammonemia Hypertrophic cardiomyopathy Retrognathia Dehydration Decreased testicular size Congestive heart failure Cardiomyopathy Respiratory insufficiency Frontal bossing Hepatomegaly Cleft palate Adrenocorticotropic hormone excess Ventriculomegaly Primary adrenal insufficiency Renal salt wasting Decreased circulating cortisol level Elevated circulating follicle stimulating hormone level Absence of secondary sex characteristics Abnormal vagina morphology Decreased circulating aldosterone level Arrhythmia Elevated circulating luteinizing hormone level Ambiguous genitalia, male Increased circulating renin level Clitoral hypertrophy Urogenital sinus anomaly Generalized hyperpigmentation Myopathy Muscular dystrophy Increased circulating ACTH level Decreased fertility Hypertelorism Diabetes mellitus 3-Methylglutaconic aciduria Severe lactic acidosis Neonatal hypoglycemia Hypertension Delayed skeletal maturation Hyperlipidemia Hyperactivity Premature birth Hypoglycemia Aggressive behavior Muscular hypotonia of the trunk Neonatal hypotonia Poor speech Long philtrum Encephalopathy Downturned corners of mouth Lethargy Intrauterine growth retardation Male pseudohermaphroditism Micrognathia Adrenal hypoplasia Nystagmus Agenesis of corpus callosum Increased urinary glycerol Abnormal aortic valve morphology Moderate global developmental delay Hyperalaninemia Gastroparesis Glucose intolerance Flat occiput Adrenocortical hypoplasia Congenital adrenal hypoplasia Abnormal pulmonary valve morphology Encephalitis Hearing impairment Sensorineural hearing impairment Depressed nasal bridge Hyperglycerolemia Episodic vomiting Loss of consciousness Bifid scrotum Renal tubular acidosis Adrenal insufficiency Accelerated skeletal maturation Pathologic fracture Hypertriglyceridemia Coma Ambiguous genitalia Proximal renal tubular acidosis Postaxial polydactyly Insulin resistance Polycystic ovaries Decreased activity of the pyruvate dehydrogenase complex Hirsutism Synophrys Polydactyly Upslanted palpebral fissure Ketoacidosis Acne Tetralogy of Fallot Perineal hypospadias Intractable diarrhea Abnormal urine potassium concentration Induced vaginal delivery Pain Diarrhea Sepsis Abnormal intestine morphology Hypercholesterolemia Hypoalbuminemia Malnutrition Villous atrophy Protein-losing enteropathy Enterocolitis Optic atrophy Low maternal serum estriol Truncal ataxia Edema Abnormal vertebral morphology Blindness Dystonia Cerebral atrophy Myoclonus Developmental regression Spastic tetraplegia Dysmetria Neurodegeneration Tetraplegia Midshaft hypospadias Abnormality of the Leydig cells Abnormality of the menstrual cycle Androgen insufficiency Enlarged polycystic ovaries Acute encephalopathy Congenital adrenal hyperplasia Abnormal glucose tolerance Decreased fertility in females Ambiguous genitalia, female Adrenogenital syndrome Decreased fertility in males Premature adrenarche Leukoencephalopathy Titubation Enlarged ovaries Abnormal oral glucose tolerance Abnormality of prenatal development or birth Hyperpigmented genitalia Abnormality of the labia majora Progressive encephalopathy Abnormality of the vertebral column Aminoaciduria Ectopic adrenal gland Sex reversal Aplasia of the uterus Adrenal calcification Abnormality of cholesterol metabolism Decreased circulating androgen level Generalized bronze hyperpigmentation Aplasia/Hypoplasia of the corpus callosum Malignant hyperthermia Microretrognathia Abnormal heart morphology Spastic tetraparesis Pancreatitis Widely spaced teeth Drooling Agitation External genital hypoplasia Depressed nasal tip Large earlobe Male hypogonadism Abdominal obesity Birth length less than 3rd percentile Tall chin Abnormality of cardiovascular system morphology Camptodactyly Lower limb spasticity Prominent nasal bridge Pulmonic stenosis Cardiomegaly Renal hypoplasia Aortic valve stenosis Cardiac arrest Spontaneous abortion Severe muscular hypotonia Rocker bottom foot Severe failure to thrive Scoliosis Muscle weakness Ptosis High palate Progressive microcephaly Open mouth Downslanted palpebral fissures Macrotia Spasticity Delayed speech and language development Myopia Talipes equinovarus Hypoplasia of the corpus callosum Intellectual disability, severe Absent speech Obesity Babinski sign Hypogonadism Micropenis Gait ataxia Autism Difficulty walking Tetraparesis EEG abnormality Cleft lip Attention deficit hyperactivity disorder Severe global developmental delay Long face Inability to walk Thick vermilion border Tapered finger Broad nasal tip Full cheeks Round face Growth hormone deficiency Sloping forehead Hypoplasia of penis Fever Kyphosis Intention tremor Mixed respiratory and metabolic acidosis Rhabdomyolysis Acute kidney injury Scaphocephaly Myoglobinuria Thoracic kyphosis Low hanging columella Hyperphosphatemia Breech presentation Respiratory arrest Diaphragmatic eventration Congenital ptosis Long upper lip Sinus tachycardia Cataract Myopathic facies Wide nasal bridge Tremor Anteverted nares Cerebellar atrophy Inguinal hernia Cerebral cortical atrophy Respiratory failure Umbilical hernia Intellectual disability, moderate Abnormality of the kidney Camptodactyly of finger Flat face Interphalangeal joint contracture of finger Pulmonary arterial hypertension Abnormality of the sternum Abnormality of the coagulation cascade Renal insufficiency Pectus carinatum Malar flattening Dilatation Midface retrusion Pectus excavatum Elevated serum creatine phosphokinase Pes cavus Hyperhidrosis Kyphoscoliosis Rigidity Proximal muscle weakness Myalgia Hyperlordosis Stroke Arthrogryposis multiplex congenita Ventricular fibrillation Limb muscle weakness Tachycardia Joint hypermobility Muscle cramps Abnormal bleeding Webbed neck Decreased fetal movement Lumbar hyperlordosis Lymphedema Shock Tachypnea Ventricular arrhythmia Deep philtrum Myotonia Encephalomalacia



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