Anemia, and Hypogonadism

Diseases related with Anemia and Hypogonadism

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


Top matches:

Low match HEMOCHROMATOSIS, TYPE 2B; HFE2B


Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by Roetto et al., 1999). HFE2B is caused by mutation in the HAMP gene (OMIM ). HFE2 is genetically heterogeneous (see HFE2A, {602390}).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM MESH MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 2B; HFE2B

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 BONE MARROW FAILURE SYNDROME 5; BMFS5


Bone marrow failure syndrome-5 (BMFS5) is a hematologic disorder characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures (summary by Toki et al., 2018)For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 5; BMFS5

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Other less relevant matches:

Low match HEMOCHROMATOSIS TYPE 3


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

Low match 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM


3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form

3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM Is also known as phgdh deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM

Low match PITUITARY APOPLEXY


The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA.

Related symptoms:

  • Ptosis
  • Hypertension
  • Fever
  • Fatigue
  • Headache


SOURCES: MESH ORPHANET MENDELIAN

More info about PITUITARY APOPLEXY

Low match BETA-THALASSEMIA


Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The disorder is clinically heterogeneous (summary by Ottolenghi et al., 1975).Absence of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. For clinical purposes, beta-thalassemia is divided into thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate severity), and thalassemia minor (asymptomatic, carrier state). The molecular and clinical aspects of the beta-thalassemias were reviewed by Olivieri (1999).The remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors (Weatherall, 2001).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Anemia
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about BETA-THALASSEMIA

Low match OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY


Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).

OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY Is also known as dominant optic atrophy plus syndrome|doa+

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY

Low match ROTHMUND-THOMSON SYNDROME TYPE 2


Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2|rts2

Related symptoms:

  • Growth delay
  • Cataract
  • Anemia
  • Frontal bossing
  • Diarrhea


SOURCES: ORPHANET MENDELIAN

More info about ROTHMUND-THOMSON SYNDROME TYPE 2

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2


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}.

FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 Is also known as facd|fad2|fa4|fanconi anemia, complementation group d|fanconi pancytopenia, type 4|fancd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2

Top 5 symptoms//phenotypes associated to Anemia and Hypogonadism

Symptoms // Phenotype % cases
Growth delay Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Neutropenia Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Pallor Increased serum iron Elevated hepatic transaminase Splenomegaly Seizures Increased serum ferritin

Rare Symptoms - Less than 30% cases


Diarrhea Intellectual disability Neoplasm Delayed skeletal maturation Bone marrow hypocellularity Short thumb Hypogonadotrophic hypogonadism Impotence Cataract Hearing impairment Strabismus Osteopenia Fever Reduced visual acuity Nausea and vomiting Hypergonadotropic hypogonadism Ptosis Muscle weakness Global developmental delay Hypochromic anemia Cirrhosis Abnormality of iron homeostasis Hepatosplenomegaly Cardiomyopathy Microcytic anemia Poikilocytosis Hypochromic microcytic anemia Decreased mean corpuscular volume Reticulocytopenia Cafe-au-lait spot Renal agenesis Horizontal nystagmus Autistic behavior Spastic paraplegia Ophthalmoplegia Abnormality of eye movement Paraplegia Muscle cramps Progressive visual loss External ophthalmoplegia Chromosomal breakage induced by crosslinking agents Ragged-red muscle fibers Abnormal electroretinogram Increased variability in muscle fiber diameter Progressive sensorineural hearing impairment Macrocytic anemia Central scotoma Progressive external ophthalmoplegia Pes cavus Areflexia Abnormal auditory evoked potentials Hyperreflexia Prolonged G2 phase of cell cycle Ataxia Congestive heart failure Sensorineural hearing impairment Spasticity Cognitive impairment Peripheral neuropathy Optic atrophy Visual loss Gait disturbance Dysphagia Myopathy Deficient excision of UV-induced pyrimidine dimers in DNA Cerebellar atrophy Dystonia Encephalopathy Episodic ataxia Red-green dyschromatopsia Bruising susceptibility Abnormality of cardiovascular system morphology Poikiloderma Concave nasal ridge Hypoplasia of teeth Short stature Cryptorchidism Microphthalmia Absent radius Absent thumb Absent eyelashes Abnormal heart morphology Ectopic kidney Horseshoe kidney Leukemia Pancytopenia Small for gestational age Abnormality of skin pigmentation Osteosarcoma Prematurely aged appearance Tritanomaly Palmoplantar keratoderma Centrocecal scotoma Abnormal amplitude of pattern reversal visual evoked potentials Frontal bossing Skeletal dysplasia Abnormality of temperature regulation Nail dystrophy Hypotrichosis Microdontia Basal cell carcinoma Cutaneous photosensitivity Complete duplication of thumb phalanx Hypoplasia of the radius Brittle hair Myelodysplasia Absent eyebrow Duplicated collecting system Squamous cell carcinoma Reduced beta/alpha synthesis ratio Osteomalacia Abnormal hemoglobin Headache Hypsarrhythmia Adducted thumb Megaloblastic anemia Congenital microcephaly Cerebral dysmyelination Abnormality of the hypothalamus-pituitary axis Hypertension Adrenal insufficiency Decreased testicular size Photophobia Hypoglycemia Azoospermia Confusion Coma Growth hormone deficiency Hypotension Diplopia Spastic tetraplegia Congenital cataract Hyponatremia Arthralgia Recurrent infections Decreased transferrin saturation Decreased antibody level in blood Elevated hepatic iron concentration Erythroid hypoplasia Pain Abdominal pain Arthritis Postnatal growth retardation Abnormality of the liver Anisopoikilocytosis Amenorrhea Hyperpigmentation of the skin Lymphopenia Purpura Nystagmus Hypertonia Cranial nerve paralysis Blurred vision Portal fibrosis Postural instability Abnormality of the skeletal system Respiratory insufficiency Hypothyroidism Osteoporosis Jaundice Hypertrophic cardiomyopathy Irritability Hepatitis Failure to thrive Skin ulcer Venous thrombosis Reduced bone mineral density Cholelithiasis Dysplastic erythropoesis Abnormality of the skull Anisocytosis Anemia of inadequate production Feeding difficulties Abnormal static automated perimetry test Hypopituitarism Central diabetes insipidus Growth hormone excess Increased circulating cortisol level Oligomenorrhea Prolactin excess Pituitary adenoma Excessive daytime somnolence Pituitary hypothyroidism Adrenocorticotropic hormone deficiency Normochromic anemia Abnormal caudate nucleus morphology Galactorrhea Abnormality of the cerebrospinal fluid Mydriasis Prolactin deficiency Trigeminal neuralgia Bitemporal hemianopia Abnormal kinetic perimetry test Thunderclap headache Anemic pallor



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