Cryptorchidism, and Metabolic acidosis

Diseases related with Cryptorchidism and Metabolic acidosis

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

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

Medium match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

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 46,XY DISORDER OF SEX DEVELOPMENT-ADRENAL INSUFFICIENCY DUE TO CYP11A1 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

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

Symptoms // Phenotype % cases
Acidosis Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Hyponatremia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Strabismus Short stature Failure to thrive Osteoporosis Hypotension Generalized hypotonia Hyperkalemia Dehydration Delayed puberty Adrenocorticotropic hormone excess Hypernatriuria Agenesis of corpus callosum Increased circulating ACTH level Female external genitalia in individual with 46,XY karyotype Urogenital sinus anomaly Increased circulating renin level Increased serum lactate Aciduria Ambiguous genitalia, male Hypovolemia Decreased circulating cortisol level Elevated circulating luteinizing hormone level Generalized hyperpigmentation Delayed skeletal maturation Decreased testicular size Gynecomastia Clitoral hypertrophy Hypospadias Decreased fertility Primary adrenal insufficiency Decreased circulating aldosterone level Neonatal hypoglycemia Male pseudohermaphroditism Renal salt wasting Elevated circulating follicle stimulating hormone level Absence of secondary sex characteristics Abnormal vagina morphology Abnormal sex determination Reduced bone mineral density Lethargy Low-set ears Epicanthus Intellectual disability Adrenal hypoplasia Abnormal facial shape Frontal bossing

Rare Symptoms - Less than 30% cases


Aminoaciduria Myopathy Induced vaginal delivery Hypertelorism Abnormal urine potassium concentration Growth delay Midshaft hypospadias Proximal renal tubular acidosis Renal tubular acidosis Low maternal serum estriol Aplasia of the uterus Flexion contracture Micrognathia Respiratory insufficiency Aggressive behavior Neonatal hypotonia Lactic acidosis Upslanted palpebral fissure Severe lactic acidosis Scoliosis Sex reversal Kyphosis Renal insufficiency Deep philtrum Joint hypermobility Hyperaldosteronism Muscular dystrophy Abnormal bleeding Hypercholesterolemia Decreased circulating androgen level Ataxia Nystagmus Muscular hypotonia Adrenal insufficiency Hyperlipidemia Ventriculomegaly Abnormality of cholesterol metabolism Blindness Hypertonia Generalized bronze hyperpigmentation Pathologic fracture Abnormality of prenatal development or birth Premature birth Abnormality of the Leydig cells Obsessive-compulsive behavior Chronic otitis media Flat occiput Malabsorption Bilateral talipes equinovarus Carious teeth Open bite Self-injurious behavior Glomerulonephritis Rickets Abnormality of the voice Diabetes insipidus Fine hair Hypophosphatemia Cyanosis Dysphasia Congenital glaucoma Hyperparathyroidism Abnormal joint morphology Hypokalemia Glomerulopathy Osteomalacia Joint swelling Multiple renal cysts Patellar dislocation Atypical scarring of skin Platyspondyly Congenital cataract Nephrocalcinosis Genu valgum Nephrolithiasis Bilateral cryptorchidism Sparse scalp hair Full cheeks Recurrent fractures Delayed eruption of teeth Everted lower lip vermilion Osteoarthritis Hematuria Long face Abnormality of the metaphysis Subcutaneous nodule Hypoplasia of dental enamel Dental crowding Amblyopia Hypercalciuria Stereotypy Hyperpigmentation of the skin Abnormality of epiphysis morphology Clonus Joint hyperflexibility Skin ulcer Joint contracture of the hand Abnormality of the ribs Narrow palate Abnormality of dental enamel Azoospermia Neoplasm of the skin Reduced number of teeth Open mouth Elevated serum acid phosphatase Gingivitis Enlarged polycystic ovaries Insulin resistance Talipes Accelerated skeletal maturation Corneal opacity Polycystic ovaries Respiratory failure Acne Bifid scrotum Glucose intolerance Hernia Talipes equinovarus Perineal hypospadias Abnormality of the menstrual cycle Congenital adrenal hyperplasia Hirsutism Abnormal glucose tolerance Decreased fertility in females Ambiguous genitalia, female Adrenogenital syndrome Decreased fertility in males Premature adrenarche Adrenal calcification Enlarged ovaries Androgen insufficiency Abnormal oral glucose tolerance Hyperpigmented genitalia Abnormality of the labia majora Ectopic adrenal gland Ambiguous genitalia Vertigo Periodontitis Vitamin D deficiency Taurodontia Renal tubular dysfunction Generalized hypopigmentation Atelectasis Hyperphosphaturia Buphthalmos Abnormal pupil morphology Lacrimation abnormality Abnormality of the renal tubule Cheilitis Keloids Renal Fanconi syndrome Urogenital fistula Oligosacchariduria Dense posterior cortical cataract Chorioretinal dysplasia Abnormality of calcium-phosphate metabolism Benign neoplasm of the central nervous system Periventricular cysts Elevated amniotic fluid alpha-fetoprotein Finger swelling Odontogenic neoplasm Elevated maternal serum alpha-fetoprotein Bicarbonaturia Abnormality of dentin Lentiglobus Wrist swelling Hypoammonemia Hip dislocation Behavioral abnormality Attention deficit hyperactivity disorder Progressive encephalopathy Hepatomegaly Hypertension Microcephaly Encephalomalacia Decreased activity of the pyruvate dehydrogenase complex Acute encephalopathy Titubation Abnormality of the vertebral column Congestive heart failure Truncal ataxia Abnormal vertebral morphology Spastic tetraplegia Tetralogy of Fallot Tetraplegia Neurodegeneration Dysmetria Cardiomyopathy Abnormality of cardiovascular system morphology Muscular hypotonia of the trunk Renal hypoplasia Severe failure to thrive Rocker bottom foot Hyperammonemia Severe muscular hypotonia Spontaneous abortion Cardiac arrest Aortic valve stenosis Cardiomegaly Abnormal heart morphology Oligohydramnios Pulmonic stenosis Prominent nasal bridge Short philtrum Wide mouth Camptodactyly Hypertrophic cardiomyopathy Retrognathia Developmental regression Myoclonus Muscle weakness Postaxial polydactyly Loss of consciousness Hypertriglyceridemia Coma Downturned corners of mouth Small for gestational age Hypoglycemia Diabetes mellitus Poor speech Episodic vomiting Synophrys Polydactyly Hyperactivity Intrauterine growth retardation Depressed nasal bridge Cleft palate Sensorineural hearing impairment Hearing impairment Ketoacidosis Congenital adrenal hypoplasia Encephalopathy Protein-losing enteropathy Cerebral atrophy Dystonia Edema Optic atrophy Hyperreflexia Intractable diarrhea Enterocolitis Villous atrophy Adrenocortical hypoplasia Malnutrition Hypoalbuminemia Abnormal intestine morphology Sepsis Diarrhea Pain Hyperglycerolemia Increased urinary glycerol 3-Methylglutaconic aciduria Ptosis Camptodactyly of finger Visual impairment Areflexia Depressivity Thrombocytopenia Microphthalmia Long philtrum Abnormality of the dentition Motor delay Anemia Inguinal hernia Cognitive impairment Cataract Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Congenital ptosis Diaphragmatic eventration Respiratory arrest Hyporeflexia Constipation Hyperphosphatemia Anxiety Joint stiffness Protruding ear Irritability Feeding difficulties in infancy Low-set, posteriorly rotated ears Intellectual disability, moderate Proteinuria Arthritis Recurrent respiratory infections Deeply set eye EEG abnormality Thin upper lip vermilion Umbilical hernia Gastroesophageal reflux Mandibular prognathia Reduced visual acuity Glaucoma Breech presentation Low hanging columella High palate Hyperhidrosis Pectus carinatum Stroke Hyperlordosis Myalgia Proximal muscle weakness Rigidity Kyphoscoliosis Pes cavus Limb muscle weakness Elevated serum creatine phosphokinase Arrhythmia Pectus excavatum Midface retrusion Dilatation Malar flattening Downslanted palpebral fissures Fever Arthrogryposis multiplex congenita Tachycardia Thoracic kyphosis Abnormality of the coagulation cascade Malignant hyperthermia Myoglobinuria Scaphocephaly Acute kidney injury Rhabdomyolysis Abnormality of the sternum Myopathic facies Ventricular fibrillation Muscle cramps Myotonia Ventricular arrhythmia Tachypnea Shock Lymphedema Lumbar hyperlordosis Decreased fetal movement Webbed neck Adrenal hyperplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Camptodactyly of finger, related diseases and genetic alterations Depressed nasal bridge and Retinal detachment, related diseases and genetic alterations High palate and Hip dysplasia, related diseases and genetic alterations Ptosis and Weight loss, related diseases and genetic alterations

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