Anemia, and Hypospadias

Diseases related with Anemia and Hypospadias

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


Top matches:

Low match DIAMOND-BLACKFAN ANEMIA 5; DBA5


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 5; DBA5

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV


Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV Is also known as cda, type iv|cda type 4|congenital dyserythropoietic anemia due to klf1 mutation|cda iv|cdan4|congenital dyserythropoietic anemia type 4|cda type iv|cda due to klf1 mutation

Related symptoms:

  • Short stature
  • Hypertelorism
  • Anemia
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

Low match PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM


PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM Is also known as platelet disorder, aspirin-like|thrombocytopenia, familial, with propensity to acute myelogenous leukemia|fpd/aml

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hernia
  • Hypospadias
  • Umbilical hernia


SOURCES: OMIM MENDELIAN

More info about PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM

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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

Low match BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17


Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).For a discussion of genetic heterogeneity of platelet-type bleeding disorder, see BDPLT1 (OMIM ).

BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17 Is also known as thrombasthenia-thrombocytopenia, hereditary

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hypospadias
  • Patent ductus arteriosus
  • Bruising susceptibility


SOURCES: OMIM MESH MENDELIAN

More info about BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17

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 ICF SYNDROME


The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Low match MIRAGE SYNDROME


MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

Low match VACTERL WITH HYDROCEPHALUS


VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Top 5 symptoms//phenotypes associated to Anemia and Hypospadias

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation Hypertelorism

Rare Symptoms - Less than 30% cases


Leukopenia Shawl scrotum Decreased testicular size Neoplasm Growth delay Prolonged bleeding time Myelodysplasia Purpura Epistaxis Abnormal bleeding Hypoglycemia Bruising susceptibility Leukemia Umbilical hernia Abnormality of chromosome stability Hydrocephalus Sepsis Patent ductus arteriosus Micrognathia Motor delay Radial club hand Lymphopenia Failure to thrive Low-set ears Petechiae Cardiomyopathy Diarrhea Hypergonadotropic hypogonadism Paraplegia Gastroesophageal reflux Recurrent bacterial infections Meningitis Recurrent urinary tract infections Decreased body weight Intracranial hemorrhage Chronic diarrhea Abnormal intestine morphology Hyperpigmentation of the skin Decrease in T cell count Talipes equinovarus Combined immunodeficiency Neurodegeneration Macroglossia Decreased antibody level in blood Otitis media Bronchiectasis Sinusitis Recurrent pneumonia Malnutrition Bronchitis Scoliosis Protruding tongue Agammaglobulinemia Communicating hydrocephalus Chronic bronchitis Cellular immunodeficiency Rocker bottom foot Abnormality of neutrophils Impaired T cell function Seizures Hyponatremia Cleft palate Adrenal insufficiency Abnormality of the vertebral column Abnormal vertebral morphology Spina bifida Hemivertebrae Abnormality of the outer ear Renal hypoplasia/aplasia Hypoplasia of the radius Anophthalmia Tracheoesophageal fistula Absent thumb Occipital encephalocele Abnormal form of the vertebral bodies Esophageal atresia Single umbilical artery Abnormality of the optic nerve Aqueductal stenosis Anotia Femoral hernia Arrhinencephaly Absence of the sacrum Abnormality of the fallopian tube Encephalocele Renal hypoplasia Hyperkalemia Microphthalmia Adrenal hypoplasia Aspiration pneumonia Overlapping fingers Achalasia Microphallus Esophageal stricture Hypoplastic spleen Malabsorption Respiratory insufficiency Abnormality of cardiovascular system morphology Renal agenesis Abnormal heart morphology Inguinal hernia Respiratory failure Polyhydramnios Retrognathia Abnormality of the kidney Hip dislocation Anal atresia Pulmonary hypoplasia Microcornea Flat face Normochromic microcytic anemia Respiratory tract infection Visual impairment Neuroblastoma Acute lymphoblastic leukemia Acute leukemia Acute monocytic leukemia Impaired platelet aggregation Refractory anemia Hearing impairment Spasticity Bilateral sensorineural hearing impairment Lymphoma Megalocornea Abnormal eyelid morphology Chromosome breakage Abnormal eye morphology T-cell lymphoma/leukemia Gastrointestinal hemorrhage Heterotopia Menorrhagia Acute myeloid leukemia Neutropenia Anisocytosis Micropenis Ventricular septal defect Macrocytic anemia Increased mean corpuscular volume Reticulocytopenia Erythroid hypoplasia Hepatomegaly Edema Splenomegaly Hypertrophic cardiomyopathy Hernia Hydrops fetalis Wide anterior fontanel Hyperbilirubinemia Reticulocytosis Anemia of inadequate production Fetal distress Normochromic anemia Congenital hypoplastic anemia Erythroid hyperplasia Autoimmune thrombocytopenia Ecchymosis High forehead Abnormal facial shape 3-Methylglutaconic aciduria Microvesicular hepatic steatosis Nonprogressive cerebellar ataxia Glutaric aciduria Testicular dysgenesis Noncompaction cardiomyopathy 3-Methylglutaric aciduria Penile hypospadias Depressed nasal bridge Microcytic anemia Epicanthus Macrocephaly Anteverted nares Short nose Malar flattening Immunodeficiency Recurrent infections Pneumonia Recurrent respiratory infections Perineal hypospadias Hypokinesia Abnormal thrombocyte morphology Muscle weakness Increased mean platelet volume Myelofibrosis Anisopoikilocytosis Abnormal platelet function Abnormal platelet aggregation Absence of alpha granules Reduced prothrombin consumption Ataxia Optic atrophy Prolonged QT interval Congestive heart failure Arrhythmia Postnatal growth retardation Dilated cardiomyopathy Hepatic steatosis Sudden cardiac death Aciduria Mitral regurgitation Abnormality of the genital system Microtia, third degree



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Epicanthus and Upslanted palpebral fissure, related diseases and genetic alterations Strabismus and Constipation, related diseases and genetic alterations Failure to thrive and Subcutaneous nodule, related diseases and genetic alterations Muscle weakness and Choreoathetosis, related diseases and genetic alterations Micrognathia and Arthrogryposis multiplex congenita, related diseases and genetic alterations

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