Anemia, and Cryptorchidism

Diseases related with Anemia and Cryptorchidism

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

Top matches:

Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.

THROMBOCYTOPENIA WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA Is also known as congenital dyserythropoietic anemia with thombocytopenia|x-linked congenital dyserythropoietic anemia with thrombocytopenia|xdat

Related symptoms:

  • Cryptorchidism
  • Anisocytosis
  • Anemia of inadequate production
  • Poikilocytosis
  • Macrothrombocytopenia


SOURCES: ORPHANET MENDELIAN

More info about THROMBOCYTOPENIA WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA

XLTDA is an X-linked recessive hematologic disorder characterized by thrombocytopenia and abnormal platelet morphology and function due to defective platelet maturation. Some patients have a variable severity of dyserythropoietic anemia (summary by Millikan et al., 2011).

Related symptoms:

  • Cryptorchidism
  • Anemia
  • Thrombocytopenia
  • Bruising susceptibility
  • Epistaxis


SOURCES: OMIM MENDELIAN

More info about THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA

Other less relevant matches:

Low match N SYNDROME

N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Neoplasm
  • Cryptorchidism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about N SYNDROME

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Short stature
  • Neoplasm
  • Cryptorchidism
  • Anemia
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO

Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.

PITUITARY STALK INTERRUPTION SYNDROME Is also known as psis|ectopic neurohypophysis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PITUITARY STALK INTERRUPTION SYNDROME

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16

Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP

Top 5 symptoms//phenotypes associated to Anemia and Cryptorchidism

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Rare Symptoms - Less than 30% cases

Congestive heart failure Neoplasm Spasticity Visual impairment Hypospadias Chromosome breakage Short thumb Abnormal facial shape Bone marrow hypocellularity Absent thumb Anisocytosis Failure to thrive Hypoglycemia Growth delay Hypoplasia of the radius Microcephaly Thrombocytopenia Macrothrombocytopenia Poikilocytosis Downslanted palpebral fissures Anemia of inadequate production Muscle fibrillation Abnormal cardiac septum morphology Thin upper lip vermilion Autistic behavior Wide mouth Hypermetropia Generalized tonic-clonic seizures Behavioral abnormality Synophrys Astigmatism Downturned corners of mouth Vitiligo Neutropenia Autism Wide nasal bridge Pelvic kidney Myopia Epileptic encephalopathy Hyperreflexia Delayed speech and language development Strabismus Nystagmus Hypertelorism Generalized hypotonia Normochromic microcytic anemia Penile hypospadias 3-Methylglutaric aciduria Noncompaction cardiomyopathy Testicular dysgenesis Glutaric aciduria Generalized myoclonic seizures Squamous cell carcinoma Absent radius Blepharophimosis Hypopigmentation of the skin Tetraplegia Sloping forehead Spastic tetraplegia Open mouth Bulbous nose Abnormality of the kidney Telecanthus Carcinoma Abnormality of the skeletal system Decreased body weight Knee flexion contracture Drooling Adducted thumb Abnormality of skin pigmentation Glaucoma Cortical gyral simplification Short palpebral fissure Hypsarrhythmia Status epilepticus Broad-based gait Cerebral visual impairment Horseshoe kidney Cafe-au-lait spot Obsessive-compulsive behavior Pancytopenia Delayed ability to walk Enlarged cisterna magna Microvesicular hepatic steatosis Ptosis Flexion contracture Agenesis of corpus callosum Nonprogressive cerebellar ataxia Arrhythmia 3-Methylglutaconic aciduria Abnormality of chromosome stability Macrocytic anemia Unilateral cryptorchidism Leukemia Bilateral sensorineural hearing impairment Megalocornea Abnormal eyelid morphology Abnormal eye morphology Sparse eyelashes T-cell lymphoma/leukemia Renal insufficiency Abnormality of cardiovascular system morphology Abnormal heart morphology Hydronephrosis Anal atresia Atresia of the external auditory canal Microtia Renal cyst Petechiae Hypochromic anemia Abnormal lactate dehydrogenase activity Abnormal megakaryocyte morphology Abnormality of multiple cell lineages in the bone marrow Bruising susceptibility Epistaxis Acanthocytosis Conductive hearing impairment Giant platelets Persistent bleeding after trauma Abnormal platelet morphology Congenital thrombocytopenia Cleft palate Midface retrusion Stage 5 chronic kidney disease Bilateral cryptorchidism Perineal hypospadias Sudden cardiac death Intrauterine growth retardation Optic atrophy Cardiomyopathy Postnatal growth retardation Dilated cardiomyopathy Hepatic steatosis Aciduria Muscle weakness Decreased testicular size Mitral regurgitation Abnormality of the genital system Prolonged QT interval Hypokinesia Microcytic anemia Motor delay Ataxia External genital hypoplasia Hypotension Cystic renal dysplasia Rectal atresia Micropenis Hypothyroidism Jaundice Delayed puberty Hypoplasia of penis Abnormality of the pituitary gland Primary amenorrhea Diabetes insipidus Adrenal hypoplasia Abnormality of the hypothalamus-pituitary axis Ectopic posterior pituitary Septo-optic dysplasia Squamous cell carcinoma of the tongue


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