Cryptorchidism, and Acidosis

Diseases related with Cryptorchidism and Acidosis

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

Top matches:

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

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

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

Other less relevant matches:

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

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

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

46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency is a rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.

46,XY DISORDER OF SEX DEVELOPMENT-ADRENAL INSUFFICIENCY DUE TO CYP11A1 DEFICIENCY Is also known as xy sex reversal-adrenal failure|p450scc deficiency

Related symptoms:

  • Failure to thrive
  • Cryptorchidism
  • Feeding difficulties
  • Talipes equinovarus
  • Vomiting


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT-ADRENAL INSUFFICIENCY DUE TO CYP11A1 DEFICIENCY

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, 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 ). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF ) (summary by Coelho et al., 2012).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblj|methylmalonic aciduria with homocystinuria, type cblj|cblj defects|cobalamin j defect

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as adrenal hyperplasia v|17-alpha-hydroxylase deficiency

Related symptoms:

  • Muscle weakness
  • Cryptorchidism
  • Hypertension
  • Myopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Acidosis

Symptoms // Phenotype % cases
Vomiting Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hyponatremia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Gynecomastia Delayed puberty Hypospadias Lethargy Osteoporosis Metabolic acidosis Male pseudohermaphroditism Adrenal hypoplasia Delayed skeletal maturation Urogenital sinus anomaly Increased circulating ACTH level Hypotension Hypovolemia Adrenocorticotropic hormone excess Decreased testicular size Hypernatriuria Female external genitalia in individual with 46,XY karyotype Abnormal sex determination Renal salt wasting Agenesis of corpus callosum Dehydration Ambiguous genitalia, male Elevated circulating luteinizing hormone level Decreased circulating aldosterone level Reduced bone mineral density Abnormal vagina morphology Generalized hypotonia Neonatal hypoglycemia Primary adrenal insufficiency Generalized hyperpigmentation Decreased fertility Hyperkalemia Decreased circulating cortisol level Growth delay Elevated circulating follicle stimulating hormone level Strabismus Abnormal facial shape Absence of secondary sex characteristics Clitoral hypertrophy Increased circulating renin level

Rare Symptoms - Less than 30% cases

Perineal hypospadias Hyperaldosteronism Talipes equinovarus Hypertension Muscular hypotonia Aciduria Decreased circulating androgen level Hyperreflexia Ventriculomegaly Induced vaginal delivery Abnormal urine potassium concentration Midshaft hypospadias Low maternal serum estriol Abnormality of the Leydig cells Abnormality of prenatal development or birth Generalized bronze hyperpigmentation Hypertonia Muscular hypotonia of the trunk Cerebral atrophy Abnormality of cholesterol metabolism Aplasia of the uterus Sex reversal Premature birth Micropenis Adrenogenital syndrome Nystagmus Congenital adrenal hyperplasia Micrognathia Failure to thrive Adrenal hyperplasia Hypertelorism Diabetes mellitus Short stature Intellectual disability Downturned corners of mouth Adrenal insufficiency Cleft palate Hyperactivity Hyperlipidemia Epicanthus Myopathy Bifid scrotum Hypoglycemia Ambiguous genitalia Small for gestational age Accelerated skeletal maturation Aggressive behavior Poor speech Cleft lip Depressed nasal tip Abnormality of metabolism/homeostasis Large earlobe Feeding difficulties in infancy Generalized muscle weakness Amenorrhea External genital hypoplasia Primary amenorrhea Agitation Drooling Headache Decreased methylcobalamin Muscle weakness Coarctation of aorta Birth length less than 3rd percentile Anemia Abdominal obesity Respiratory distress Atrial septal defect Thrombocytopenia Inguinal hernia Gastroesophageal reflux Neutropenia Wide intermamillary distance Pulmonary arterial hypertension Decreased methionine synthase activity Tachypnea Bell-shaped thorax Methylmalonic aciduria Homocystinuria Abnormal posturing Horizontal ribs Methylmalonic acidemia Hyperhomocystinemia Male hypogonadism Decreased adenosylcobalamin Hypokalemia Decreased circulating renin level Failure to thrive in infancy Full cheeks Babinski sign Hypogonadism Sloping forehead Growth hormone deficiency Gait ataxia Round face Autism Macrotia Broad nasal tip Obesity Tapered finger EEG abnormality Thick vermilion border Inability to walk Long face Lactic acidosis Severe global developmental delay Attention deficit hyperactivity disorder Hypoplasia of penis Absent speech Secondary amenorrhea Pancreatitis Widely spaced teeth Increased circulating cortisol level Alkalosis Metabolic alkalosis Female pseudohermaphroditism Hypokalemic alkalosis Microcephaly Spasticity Spastic tetraparesis Long philtrum Progressive microcephaly Lower limb spasticity Delayed speech and language development Open mouth Tetraparesis Myopia Hypoplasia of the corpus callosum Intellectual disability, severe Difficulty walking Protein-losing enteropathy Bilateral talipes equinovarus Abnormality of the menstrual cycle Increased urinary glycerol Hyperglycerolemia Hirsutism Insulin resistance Polycystic ovaries Acne Glucose intolerance Enlarged polycystic ovaries Congenital adrenal hypoplasia Abnormal glucose tolerance Decreased fertility in females Ambiguous genitalia, female Decreased fertility in males Premature adrenarche Enlarged ovaries Androgen insufficiency Abnormal oral glucose tolerance Adrenocortical hypoplasia Episodic vomiting Abnormality of the labia majora Postaxial polydactyly Hearing impairment Sensorineural hearing impairment Depressed nasal bridge Intrauterine growth retardation Upslanted palpebral fissure Polydactyly Neonatal hypotonia Synophrys Renal tubular acidosis Ketoacidosis Proximal renal tubular acidosis Low-set ears Frontal bossing Muscular dystrophy Coma Hypertriglyceridemia Loss of consciousness Pathologic fracture Hyperpigmented genitalia Ectopic adrenal gland Bilateral cryptorchidism Titubation Tetralogy of Fallot Spastic tetraplegia Abnormal vertebral morphology Truncal ataxia Aminoaciduria Abnormality of the vertebral column Progressive encephalopathy Acute encephalopathy Tetraplegia Decreased activity of the pyruvate dehydrogenase complex Encephalomalacia Hernia Respiratory failure Talipes Vertigo Cyanosis Hyperpigmentation of the skin Increased serum lactate Neurodegeneration Adrenal calcification Enterocolitis Pain Diarrhea Sepsis Abnormal intestine morphology Hypercholesterolemia Hypoalbuminemia Malnutrition Villous atrophy Intractable diarrhea Dysmetria Ataxia Optic atrophy Edema Blindness Dystonia Encephalopathy Myoclonus Developmental regression Tall chin


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