Anemia, and Amenorrhea

Diseases related with Anemia and Amenorrhea

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

Top matches:

Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 3

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

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

Other less relevant matches:

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

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

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Epistaxis
  • Menorrhagia
  • Ovarian cyst


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE AUTOSOMAL RECESSIVE MACROTHROMBOCYTOPENIA

DFNA1 is an autosomal dominant form of progressive hearing loss with onset in the first decade. Some patients may have mild thrombocytopenia and enlarged platelets, although most of these individuals do not have significant bleeding tendencies (summary by Neuhaus et al., 2017).

DIAPH1-RELATED SENSORINEURAL HEARING LOSS-THROMBOCYTOPENIA SYNDROME Is also known as konigsmark syndrome|deafness, autosomal dominant 1, with or without thrombocytopenia|diaph1-related sensorineural deafness-thrombocytopenia syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Edema
  • Thrombocytopenia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DIAPH1-RELATED SENSORINEURAL HEARING LOSS-THROMBOCYTOPENIA SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Amenorrhea

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Primary amenorrhea Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Atrial septal defect Seizures Intellectual disability Microcephaly Hypothyroidism Abnormal heart morphology Arthritis Ventricular septal defect Patent ductus arteriosus Diabetes mellitus Fever Psoriasiform dermatitis Autoimmune hemolytic anemia Ataxia Neoplasm Hydrocephalus Sensorineural hearing impairment Telangiectasia Hemolytic anemia Hyperpigmentation of the skin Cleft palate Cardiomyopathy Short neck Immunodeficiency Neutropenia Purpura Retrognathia Posteriorly rotated ears Recurrent infections

Rare Symptoms - Less than 30% cases

Hernia Abnormality of the pinna Inguinal hernia Abnormality of cardiovascular system morphology Blepharophimosis Autoimmunity Bulbous nose Conductive hearing impairment Obesity Abnormal facial shape Behavioral abnormality Cleft upper lip Hypospadias Pneumonia Hyperactivity Hydronephrosis Mental deterioration Attention deficit hyperactivity disorder Anal atresia Bronchiectasis Hypoplasia of the corpus callosum Anal stenosis Hearing abnormality Generalized hypotonia Scoliosis Chorea Cognitive impairment High palate Delayed speech and language development Bifid uvula Pain Renal agenesis Arteria lusoria Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Right aortic arch Impaired T cell function Duodenal stenosis Retinal vascular tortuosity Conotruncal defect Aplasia of the thymus Right aortic arch with mirror image branching Seborrheic dermatitis Sacral meningocele Hypertelorism Ptosis Flexion contracture Abnormality of the kidney Edema Epistaxis Severe sensorineural hearing impairment Menorrhagia Macrothrombocytopenia Aplasia of the uterus Juvenile rheumatoid arthritis Specific learning disability Cholelithiasis Tetralogy of Fallot Low posterior hairline Renal dysplasia Spina bifida Hypocalcemia Bicuspid aortic valve Arnold-Chiari malformation Growth delay Schizophrenia Nasal speech Rheumatoid arthritis Myelomeningocele Unilateral renal agenesis Acne Inflammation of the large intestine Autoimmune thrombocytopenia Posterior embryotoxon Bipolar affective disorder Vitiligo Hypoparathyroidism Meningocele Truncus arteriosus Micrognathia Umbilical hernia Abnormal cardiac septum morphology Lymphopenia Failure to thrive Increased serum iron Increased serum ferritin Impotence Bilateral sensorineural hearing impairment Hypogonadotrophic hypogonadism Cardiomegaly Hypogonadism Arthralgia Cirrhosis Polyneuropathy Elevated hepatic transaminase Alcoholism Diarrhea Abnormality of the liver Cryptorchidism Azoospermia Micropenis Splenomegaly Hepatomegaly Delayed puberty Congestive heart failure Abdominal pain Hyperglycemia Hypoglycemia Arrhythmia Fatigue Alopecia Femoral hernia Hypoplasia of the thymus Perisylvian polymicrogyria Anterior segment developmental abnormality Abnormality of the middle ear Abnormality of the thymus Vascular tortuosity Esophoria Accommodative esotropia Decreased circulating parathyroid hormone level Parathyroid hypoplasia Epicanthus Parathyroid agenesis Type I truncus arteriosus Sclerocornea Hyperreflexia Brachydactyly Wide nasal bridge Frontal bossing Hypotension Ventriculomegaly Anteverted nares Mood swings Intellectual disability, mild Clinodactyly Delayed skeletal maturation Tetany Coarctation of aorta Exotropia Narrow mouth Central nervous system degeneration Vascular ring Perineal fistula Congenital conductive hearing impairment Unilateral lung agenesis Unilateral primary pulmonary dysgenesis Strabismus Velopharyngeal insufficiency Giant platelets Low-set ears Hypertonia Jaundice Microphthalmia Telecanthus Amblyopia Cleft lip Paranoia Severe short stature Craniosynostosis Short philtrum Microtia Generalized tonic-clonic seizures Astigmatism Polymicrogyria Iris coloboma High, narrow palate Psychotic episodes Short palpebral fissure Broad thumb Abnormality of the basal ganglia Pes planus Hyperkeratosis Decreased serum testosterone level Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Communicating hydrocephalus Broad finger Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Episodic fever Polycythemia Scleroderma Pancreatic hypoplasia Hyperplasia of the maxilla Microcytic anemia Upper eyelid edema Otosclerosis Iron deficiency anemia Progressive hearing impairment Spontaneous hematomas Ovarian cyst Seborrheic keratosis Retroperitoneal fibrosis Bilateral camptodactyly Corneal arcus Cervical lymphadenopathy Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Lipoatrophy Elevated erythrocyte sedimentation rate Proptosis Malabsorption Growth hormone deficiency Full cheeks Recurrent fractures Flat face Ichthyosis Lymphadenopathy Abnormality of the foot Hypotrichosis Decreased testicular size Pectus carinatum Retinopathy Apnea Camptodactyly Low-set, posteriorly rotated ears Hepatosplenomegaly Hypoplasia of penis Dyspnea Wide intermamillary distance Overgrowth Increased antibody level in blood Type I diabetes mellitus Hallux valgus Leukocytosis Stridor Lipodystrophy Sleep apnea Plagiocephaly Osteolysis Elbow flexion contracture Mitral valve prolapse Hypergonadotropic hypogonadism Aspiration Gynecomastia Gingival overgrowth Hypertrichosis Hypertriglyceridemia Blue sclerae Epidermal acanthosis Platybasia Echolalia Diabetes insipidus Premature ovarian insufficiency Aciduria Abnormality of the musculature Freckling Long nose Non-midline cleft lip Combined immunodeficiency Abnormality of neuronal migration Deep philtrum Acute lymphoblastic leukemia Cachexia Recurrent pneumonia Low anterior hairline Abnormality of the hair Sinusitis Cafe-au-lait spot Abnormality of the skin Neuroblastoma Retinal dystrophy Recurrent urinary tract infections Abnormal hair quantity Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Rhabdomyosarcoma Acute leukemia Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Chronic diarrhea Abnormality of the face Malar prominence Intrauterine growth retardation Upslanted palpebral fissure Recurrent respiratory infections Polycystic ovaries Myelodysplasia Respiratory insufficiency Secondary amenorrhea Skeletal muscle atrophy Depressed nasal bridge Respiratory failure Macrocytic anemia Muscle weakness Megaloblastic anemia Abdominal situs inversus Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Cone/cone-rod dystrophy Macrotia Choanal atresia Pancytopenia Cutaneous photosensitivity Sloping forehead Convex nasal ridge Otitis media Prominent nose Lymphoma Neurodegeneration Anorexia Aminoaciduria Leukemia Small for gestational age Prominent nasal bridge Situs inversus totalis Cardiac arrest Intellectual disability, moderate Abnormality of the nervous system Hoarse voice Dysgammaglobulinemia Mastoiditis Adrenal hypoplasia Hepatic fibrosis Apathy Hepatic failure Hepatic steatosis Dysdiadochokinesis Ascites Hepatitis Abnormality of the hand Insulin resistance Dilated cardiomyopathy Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Pleural effusion Hallucinations Abnormal joint morphology Open mouth Obsessive-compulsive behavior Carcinoma Psychosis Pierre-Robin sequence Abnormality of the hypothalamus-pituitary axis Ectopic posterior pituitary Septo-optic dysplasia Pulmonary artery atresia Abnormality of the endocrine system Sideroblastic anemia Abnormality of the pituitary gland Delusions Hypoplasia of the brainstem Osteoporosis Submucous cleft hard palate Axonal loss Basal ganglia calcification Abnormality of the ear Myopathic facies Osteopenia Arthropathy Osteomalacia Progressive vitiligo Visual loss Elevated transferrin saturation Nystagmus Absent speech Optic atrophy Cerebellar atrophy Intellectual disability, severe Headache Gastroesophageal reflux Aceruloplasminemia Pallor Stroke Cataract Muscular hypotonia Lethargy Paresthesia Retinal degeneration Depressivity Constrictive pericarditis Peripheral demyelination Dysmetria Pericarditis Hepatocellular carcinoma Underdeveloped nasal alae Vesicoureteral reflux Increased reactive oxygen species production Acute hepatic failure Neoplasm of the liver Pulmonic stenosis Dementia Congenital cataract Restrictive cardiomyopathy Testicular atrophy Aggressive behavior Anxiety Abnormal glucose tolerance Microvesicular hepatic steatosis Cholangiocarcinoma Low-frequency hearing loss


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