Anemia, and Azoospermia

Diseases related with Anemia and Azoospermia

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


Top matches:

Low match SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS


STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.

SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS Is also known as severe congenital hypochromic sideroblastic anemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS

Low match DEAFNESS-INFERTILITY SYNDROME


Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

Low match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

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Other less relevant matches:

Low match 8P11.2 DELETION SYNDROME


8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

Low match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Low 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 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 Azoospermia

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Micrognathia Global developmental delay Pneumonia Failure to thrive Malabsorption Telangiectasia Diabetes mellitus Recurrent infections Cardiomyopathy Neoplasm Seizures Abnormality of the dentition Hypothyroidism Hepatomegaly

Rare Symptoms - Less than 30% cases


Osteomalacia Microcephaly Elevated hepatic transaminase Ventriculomegaly Protruding ear Glomerulonephritis Ichthyosis Lymphoma Cafe-au-lait spot Cognitive impairment Hypertelorism Glomerulopathy Hypogonadotrophic hypogonadism Platyspondyly Increased serum iron Hyperpigmentation of the skin Microcytic anemia Cardiomegaly Corneal opacity Abnormal joint morphology Hepatosplenomegaly Nystagmus Abnormality of epiphysis morphology Diarrhea Intrauterine growth retardation Fine hair Decreased testicular size Immunodeficiency Sacral dimple Delayed skeletal maturation Mitral valve prolapse Fatigue Hypertrichosis Recurrent respiratory infections Severe short stature Upslanted palpebral fissure Patent ductus arteriosus Atrial septal defect Epicanthus Depressed nasal bridge Feeding difficulties Amenorrhea Hip dislocation Proteinuria Scoliosis Frontal bossing Sensorineural hearing impairment Fever High palate High pitched voice Brachydactyly Bronchiectasis Bilateral sensorineural hearing impairment Thin upper lip vermilion Low-set, posteriorly rotated ears Thrombocytopenia Delayed puberty Renal insufficiency Kyphosis Hearing impairment Congestive heart failure Abnormality of the hypothalamus-pituitary axis Recurrent fractures Motor delay Intellectual disability, mild Generalized hypotonia Arthritis Reduced number of teeth Osteopenia Abnormality of the kidney Increased serum ferritin Full cheeks Alopecia Reticulocytopenia Infertility Nasal obstruction Decreased serum testosterone level Visual impairment Recurrent pharyngitis Cataract Strabismus Respiratory insufficiency Panniculitis Seborrheic keratosis Corneal arcus Episcleritis Stiff skin Cervical lymphadenopathy Blindness Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Hyperplasia of the maxilla Skin nodule Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Histiocytosis Bilateral camptodactyly Upper eyelid edema Retroperitoneal fibrosis Snoring Increased antibody level in blood Communicating hydrocephalus Pectus carinatum Epistaxis Epidermal acanthosis Overgrowth Wide intermamillary distance Growth hormone deficiency Polyneuropathy Flat face Cleft upper lip Lymphadenopathy Abnormality of the foot Hypotrichosis Retinopathy Hypertriglyceridemia Abnormal cardiac septum morphology Apnea Camptodactyly Conductive hearing impairment Pes planus Dyspnea Proptosis Micropenis Hyperkeratosis Posteriorly rotated ears Abnormal heart morphology Blue sclerae Primary amenorrhea Varicose veins Hallux valgus Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Lipoatrophy Elevated erythrocyte sedimentation rate Long philtrum Leukocytosis Gingival overgrowth Hyperglycemia Stridor Psoriasiform dermatitis Lipodystrophy Sleep apnea Plagiocephaly Osteolysis Type I diabetes mellitus Elbow flexion contracture Hypergonadotropic hypogonadism Aspiration Gynecomastia Behavioral abnormality Everted lower lip vermilion Microphthalmia Congenital glaucoma Taurodontia Periodontitis Hyperaldosteronism Gingivitis Atypical scarring of skin Patellar dislocation Multiple renal cysts Joint swelling Renal tubular acidosis Hyperparathyroidism Pathologic fracture Dysphasia Generalized hypopigmentation Hypophosphatemia Open bite Diabetes insipidus Flat occiput Obsessive-compulsive behavior Hyponatremia Chronic otitis media Self-injurious behavior Rickets Abnormality of the voice Hypokalemia Renal tubular dysfunction Atelectasis Deep philtrum Elevated serum acid phosphatase Hypoammonemia Wrist swelling Lentiglobus Abnormality of dentin Bicarbonaturia Elevated maternal serum alpha-fetoprotein Odontogenic neoplasm Finger swelling Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Benign neoplasm of the central nervous system Abnormality of calcium-phosphate metabolism Hyperphosphaturia Chorioretinal dysplasia Oligosacchariduria Vitamin D deficiency Proximal renal tubular acidosis Urogenital fistula Renal Fanconi syndrome Keloids Cheilitis Abnormality of the renal tubule Lacrimation abnormality Abnormal pupil morphology Buphthalmos Hypercalciuria Hypercholesterolemia Depressivity Neonatal hypotonia Genu valgum Carious teeth Congenital cataract Attention deficit hyperactivity disorder Camptodactyly of finger Joint stiffness Irritability Feeding difficulties in infancy Intellectual disability, moderate Aggressive behavior Anxiety Deeply set eye Long face EEG abnormality Umbilical hernia Gastroesophageal reflux Acidosis Mandibular prognathia Reduced visual acuity Glaucoma Constipation Inguinal hernia Hyporeflexia Areflexia Joint hyperflexibility Joint hypermobility Neoplasm of the skin Hypoplasia of dental enamel Abnormality of dental enamel Aminoaciduria Narrow palate Nephrocalcinosis Joint contracture of the hand Skin ulcer Clonus Stereotypy Amblyopia Nephrolithiasis Dental crowding Subcutaneous nodule Hematuria Abnormality of the metaphysis Open mouth Osteoarthritis Sparse scalp hair Abnormality of the ribs Dehydration Aciduria Increased serum lactate Abnormal bleeding Delayed eruption of teeth Metabolic acidosis Hernia Clinodactyly Emphysema Edema Preauricular pit Polydactyly Hyperhidrosis Clinodactyly of the 5th finger Syndactyly Malar flattening Short nose Supernumerary ribs Spherocytosis External ear malformation Anosmia Erythema Hypoplasia of penis Microcornea Retinal dystrophy Hemolytic anemia Iris coloboma Blepharophimosis Talipes equinovarus Elevated transferrin saturation Aceruloplasminemia Constrictive pericarditis Postnatal growth retardation Skin rash Microvesicular hepatic steatosis Narrow face IgG deficiency Hodgkin lymphoma IgA deficiency Acute myeloid leukemia Myeloid leukemia Telangiectasia of the skin Pulmonary fibrosis Squamous cell carcinoma Hand polydactyly Hypopigmented skin patches Sinusitis Finger syndactyly Abnormality of the face Cutaneous photosensitivity Type II diabetes mellitus Specific learning disability Otitis media Abnormality of the skin Prominent nose Decreased antibody level in blood Dolichocephaly Leukemia Cholangiocarcinoma Abnormal glucose tolerance Hypoplasia of the zygomatic bone Prominent nasal bridge Prominent eyelashes Moderate hearing impairment Reduced sperm motility Abnormal spermatogenesis Congenital hypoplastic anemia Anemia of inadequate production Male infertility Progressive sensorineural hearing impairment Narrow palpebral fissure Synophrys Low-set ears Pain Dysplastic erythropoesis Decreased transferrin saturation Elevated hepatic iron concentration Anisopoikilocytosis Hypochromic anemia Decreased mean corpuscular volume Hypochromic microcytic anemia Poikilocytosis Adrenal insufficiency Pallor Ataxia Arrhythmia Alcoholism Insulin resistance Testicular atrophy Restrictive cardiomyopathy Neoplasm of the liver Acute hepatic failure Increased reactive oxygen species production Hepatocellular carcinoma Pericarditis Arthropathy Impotence Pleural effusion Hepatic fibrosis Osteoporosis Hepatitis Ascites Hepatic steatosis Hepatic failure Cirrhosis Dilated cardiomyopathy Abnormality of the liver Carcinoma Arthralgia Abdominal pain Acute leukemia Chromosome breakage Hydrocephalus Protuberant abdomen Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Multiple cafe-au-lait spots Subvalvular aortic stenosis Steatorrhea Hypermelanotic macule Combined immunodeficiency Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Epiphyseal dysplasia Glomerulosclerosis Encephalitis Precocious atherosclerosis Dentinogenesis imperfecta Coarse hair Moyamoya phenomenon Anteverted nares Ventricular septal defect Wide nasal bridge Hyperreflexia Flexion contracture Ptosis Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Abnormal immunoglobulin level Cellular immunodeficiency Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Chronic kidney disease Reduced bone mineral density Hypoplastic pelvis Facial telangiectasia in butterfly midface distribution Hyperlordosis Developmental regression Dementia Headache Vomiting Cerebellar atrophy Short neck Myopia Hypertension Abnormal facial shape Agenesis of maxillary lateral incisor Autoimmunity Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females Abnormality of chromosome stability IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Scarring Stroke Hyperlipidemia Microdontia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Lymphopenia Heterotopia Abnormal form of the vertebral bodies Abnormal lung morphology Intellectual disability, profound Lumbar hyperlordosis Nephrotic syndrome Waddling gait Astigmatism Premature birth Migraine Brain atrophy Gliosis Abnormal cerebellum morphology Neutropenia Nephropathy Bulbous nose Abnormality of skin pigmentation Stage 5 chronic kidney disease Dense posterior cortical cataract



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