Anemia, and Macular degeneration

Diseases related with Anemia and Macular degeneration

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


Top matches:

Low match RETINITIS PIGMENTOSA 79; RP79


Related symptoms:

  • Cognitive impairment
  • Anemia
  • Blindness
  • Visual loss
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 79; RP79

Low match GAUCHER DISEASE, TYPE I


Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.

GAUCHER DISEASE, TYPE I Is also known as gd i|glucocerebrosidase deficiency|acid beta-glucosidase deficiency|gba deficiency|gaucher disease, noncerebral juvenile

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE I

Low match AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

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Other less relevant matches:

Low match MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2


MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2 Is also known as maculopathy, age-related, 2|macular degeneration, senile

Related symptoms:

  • Macular degeneration


SOURCES: MESH OMIM MENDELIAN

More info about MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

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

Low match NEPHRONOPHTHISIS 11; NPHP11


Related symptoms:

  • Global developmental delay
  • Growth delay
  • Nystagmus
  • Strabismus
  • Anemia


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 11; NPHP11

Low match RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Top 5 symptoms//phenotypes associated to Anemia and Macular degeneration

Symptoms // Phenotype % cases
Pallor Uncommon - Between 30% and 50% cases
Macular atrophy Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Reduced visual acuity Rare - less than 30% cases
Global developmental delay Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Strabismus Ataxia Edema Photophobia Constriction of peripheral visual field Abnormality of skin pigmentation Retinal degeneration Nyctalopia Rod-cone dystrophy Optic disc pallor Vitiligo Hypoparathyroidism Increased circulating cortisol level Chronic sinusitis Primary adrenal insufficiency Adrenal hyperplasia Antinuclear antibody positivity Cognitive impairment Asplenia Chronic mucocutaneous candidiasis Abnormality of the cerebral vasculature Metaphyseal dysplasia Achalasia Tetany Alopecia totalis Decreased circulating aldosterone level Alopecia universalis Thyroiditis Type I diabetes mellitus Abnormality of the thyroid gland Chronic diarrhea Decreased antibody level in blood Otitis media Hypotension Pigmentary retinopathy Cerebral calcification Dehydration Hepatitis Hypoplasia of dental enamel Sinusitis Adrenal insufficiency Hypergonadotropic hypogonadism Hypocalcemia Gastritis Abnormality of the fingernails Opacification of the corneal stroma Hypopigmented skin patches Cholelithiasis Diabetes insipidus Central diabetes insipidus Decreased circulating parathyroid hormone level Keratoconjunctivitis Anisocytosis Hearing impairment Myopia Fever Depressivity Arthritis Rheumatoid arthritis Retinal atrophy Macular edema Renal corticomedullary cysts Juvenile rheumatoid arthritis Poikilocytosis Retinal pigment epithelial atrophy Elliptocytosis Decreased mean corpuscular volume Epiretinal membrane Decreased serum iron Ring scotoma Tubular basement membrane disintegration Anisocoria Alopecia areata Neoplasm Chronic hepatitis Female hypogonadism Abnormality of calcium-phosphate metabolism Chronic atrophic gastritis Chronic active hepatitis Salt craving Nausea Patchy atrophy of the retinal pigment epithelium Growth delay Congenital hepatic fibrosis Nystagmus Renal insufficiency Stage 5 chronic kidney disease Hepatic fibrosis Polydipsia Polyuria Nephronophthisis Tubular atrophy Muscle cramps Rigidity Nausea and vomiting Mental deterioration Recurrent respiratory infections Dementia Osteoporosis Dyspnea Hepatosplenomegaly Proteinuria Abnormality of the eye Neurological speech impairment Delayed skeletal maturation Ophthalmoplegia Delayed puberty Bruising susceptibility Hematuria Generalized myoclonic seizures Pancytopenia Epistaxis Pulmonary arterial hypertension Pneumonia Encephalopathy Hyperpigmentation of the skin Spasticity Blindness Visual loss Retinal dystrophy Exercise intolerance Chorioretinal degeneration Generalized hypotonia Failure to thrive Pain Feeding difficulties Thrombocytopenia Hypertension Hepatomegaly Gait disturbance Fatigue Dysphagia Abnormality of the skeletal system Respiratory distress Splenomegaly Abnormal lung morphology Hydrops fetalis Malabsorption Constipation Mitral valve calcification Erlenmeyer flask deformity of the femurs Abnormal facial shape Cataract Visual impairment Vomiting Diarrhea Alopecia Vertical supranuclear gaze palsy Hypogonadism Diabetes mellitus Hypothyroidism Abnormality of the liver Retinopathy Autoimmunity Skin rash Hypotrichosis Aortic valve calcification Hypersplenism Bone pain Increased antibody level in blood Aspiration Increased bone mineral density Osteolysis Shock Hyperkinesis Increased susceptibility to fractures Stridor Oral-pharyngeal dysphagia Interstitial pulmonary abnormality Abnormal myocardium morphology Pericardial effusion Pathologic fracture Aseptic necrosis Pulmonary infiltrates Aspiration pneumonia Vertebral compression fractures Chronic fatigue Multiple myeloma Photoreceptor layer loss on macular OCT



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