Anemia, and Retinal detachment

Diseases related with Anemia and Retinal detachment

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


Top matches:

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 STICKLER SYNDROME TYPE 2


A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.

Related symptoms:

  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia
  • Retinopathy


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

Low match VON HIPPEL-LINDAU SYNDROME; VHL


Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors.Neumann and Wiestler (1991) classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). Brauch et al. (1995) further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). Hoffman et al. (2001) noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. McNeill et al. (2009) proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10 ) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B.Nordstrom-O'Brien et al. (2010) provided a review of the genetics of von Hippel-Lindau disease.

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about VON HIPPEL-LINDAU SYNDROME; VHL

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Other less relevant matches:

Low match DIAMOND-BLACKFAN ANEMIA 17; DBA17


Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

Low match BLOOD GROUP, MN; MN


MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. 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. Antigens of the Ss blood group (OMIM ) reside on GYPB, and 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 or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. 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, MN; MN Is also known as mn blood group

Related symptoms:

  • Neoplasm
  • Anemia
  • Leukemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, MN; MN

Low match PROTEUS SYNDROME


Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Low match RETINAL DYSTROPHY AND OBESITY; RDOB


Related symptoms:

  • Myopia
  • Obesity
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Pallor


SOURCES: OMIM MENDELIAN

More info about RETINAL DYSTROPHY AND OBESITY; RDOB

Low match RETINOPATHY OF PREMATURITY


Retinopathy of prematurity (ROP) is a rare retinal vasoproliferative disorder affecting preterm infants characterized initially by a delay in physiologic retinal vascular development, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.

RETINOPATHY OF PREMATURITY Is also known as retrolental fibroplasia|rop

Related symptoms:

  • Blindness
  • Small for gestational age
  • Premature birth
  • Abnormality of the retinal vasculature
  • Vitreous hemorrhage


SOURCES: ORPHANET MENDELIAN

More info about RETINOPATHY OF PREMATURITY

Low match EXUDATIVE VITREORETINOPATHY 4; EVR4


Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010).For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 (OMIM ).

Related symptoms:

  • Blindness
  • Reduced visual acuity
  • Osteopenia
  • Subcapsular cataract
  • Vitreoretinopathy


SOURCES: MESH OMIM MENDELIAN

More info about EXUDATIVE VITREORETINOPATHY 4; EVR4

Low match NANOPHTHALMOS 2; NNO2


NANOPHTHALMOS 2; NNO2 Is also known as nanophthalmia 2|nanophthalmos, autosomal recessive

Related symptoms:

  • Microphthalmia
  • Glaucoma
  • Retinal detachment
  • Angle closure glaucoma


SOURCES: MESH OMIM MENDELIAN

More info about NANOPHTHALMOS 2; NNO2

Top 5 symptoms//phenotypes associated to Anemia and Retinal detachment

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Vitreous hemorrhage Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
Carcinoma Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Reduced visual acuity Capillary hemangioma Papilledema Hamartoma Neurofibromas Glaucoma Hemangioma Tractional retinal detachment Renal cyst Nevus Visual loss Sensorineural hearing impairment Pain Cataract Lower limb asymmetry Abnormality of the wrist Macroorchidism Meningioma Vascular skin abnormality Deep venous thrombosis Varicose veins Arteriovenous malformation Asymmetry of the thorax Hemihypertrophy Abnormality of the neck Thin bony cortex Asymmetric growth Enlarged polycystic ovaries Thick nasal alae Anisocytosis Arterial thrombosis Visceral angiomatosis Spinal cord compression Long penis Buphthalmos Myofibrillar myopathy Abnormality of finger Generalized hyperpigmentation Exostoses Hallux valgus Palmoplantar hyperkeratosis Reduced number of teeth Growth abnormality Cachexia Lipodystrophy Chorioretinal coloboma Melanocytic nevus Hyperostosis Diabetes insipidus Decreased muscle mass Disproportionate tall stature Lipoma Pericardial effusion Multiple lipomas Multiple cafe-au-lait spots Ovarian neoplasm Generalized hyperkeratosis Pulmonary embolism Spinal canal stenosis Irregular hyperpigmentation Abnormal lung lobation Neoplasm of the lung Thrombophlebitis Metatarsus valgus Neoplasm of the central nervous system Abnormal macular morphology Rod-cone dystrophy Pallor Astigmatism Retinal dystrophy Cone/cone-rod dystrophy Retinal pigment epithelial atrophy Peripapillary atrophy Small for gestational age Premature birth Abnormality of the retinal vasculature Retinal arteriolar tortuosity Mandibular hyperostosis Osteopenia Subcapsular cataract Vitreoretinopathy Retinal fold Exudative vitreoretinopathy Retinal exudate Horizontal pendular nystagmus Falciform retinal fold Posterior vitreous detachment Peripheral retinal avascularization Microphthalmia Obesity Hypertrophy of skin of soles Venous malformation Macrodactyly Epibulbar dermoid Nephrogenic diabetes insipidus Keloids Upper limb asymmetry Testicular neoplasm Lymphangioma Epidermal nevus Abnormality of the metacarpal bones Calvarial hyperostosis Portal vein thrombosis Sirenomelia Depigmentation/hyperpigmentation of skin Narrow internal auditory canal Facial hyperostosis Nevus sebaceous Thymus hyperplasia Retinal hamartoma Bronchogenic cyst Retinal nonattachment Abnormal subcutaneous fat tissue distribution Neoplasm of the thymus Central heterochromia Connective tissue nevi Goiter Thickened skin Venous thrombosis Pulmonary capillary hemangiomatosis Paraganglioma Carcinoid tumor Choroidal neovascularization Posterior uveitis Adrenal pheochromocytoma Retinal neovascularization Epididymal cyst Papillary cystadenoma of the epididymis Retinal capillary hemangioma Cerebellar hemangioblastoma Hemangioblastoma Pheochromocytoma Spinal hemangioblastoma Secondary hyperaldosteronism Neoplasm of the ear Hyperpigmentation of the skin Leukemia Intellectual disability Seizures Scoliosis Hypertelorism Nystagmus Strabismus Pancreatic cysts Neoplasm of the endocrine system Ptosis Vertigo Cleft palate Retinopathy Corneal opacity Abnormal vitreous humor morphology Hearing impairment Hypertension Hydrocephalus Edema Dilatation Abnormality of the liver Progressive visual loss Facial paralysis Tinnitus Hypokalemia Hypercalcemia Polycythemia Renal cell carcinoma Exocrine pancreatic insufficiency Subarachnoid hemorrhage Multiple renal cysts Neoplasm of the pancreas Hyperaldosteronism Renal neoplasm Abnormal facial shape Low-set ears Abnormality of dental enamel High myopia Confusion Abnormality of skin pigmentation Long face Polymicrogyria Abdominal distention Sudden cardiac death Gliosis Round face Decreased antibody level in blood Overgrowth Epidermal acanthosis Carious teeth Open mouth Abnormal form of the vertebral bodies Heterotopia Subcutaneous nodule Abnormality of retinal pigmentation Lymphedema Sinusitis Abnormal vertebral morphology Lymphopenia Abnormality of the nail Generalized hirsutism Facial asymmetry Dolichocephaly Depressed nasal bridge Abnormality of cardiovascular system morphology Fever Macrocephaly Optic atrophy Downslanted palpebral fissures Anteverted nares Splenomegaly Kyphosis Syndactyly Immunodeficiency Headache Recurrent infections Clinodactyly of the 5th finger Hip dislocation Constipation Abdominal pain Hyperkeratosis Proptosis Macrotia Kyphoscoliosis Skeletal dysplasia Intellectual disability, moderate Joint stiffness Craniosynostosis Finger syndactyly Angle closure glaucoma



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