Anemia, and Visual loss

Diseases related with Anemia and Visual loss

In the following list you will find some of the most common rare diseases related to Anemia and Visual loss 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 PRIMARY INTRAOSSEOUS VENOUS MALFORMATION


Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.

PRIMARY INTRAOSSEOUS VENOUS MALFORMATION Is also known as vmos|vascular malformation osseous|osseous venous malformation|intraosseous hemangioma|hemangioma, intraosseous

Related symptoms:

  • Anemia
  • Hernia
  • Visual loss
  • Proptosis
  • Umbilical hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PRIMARY INTRAOSSEOUS VENOUS MALFORMATION

Low match OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME


Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.

OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME Is also known as osteopetrosis, osteoclast-poor, with hypogammaglobulinemia|autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia|autosomal recessive osteopetrosis type 7

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Anemia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME

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Other less relevant matches:

Low match RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE


Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.

RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE Is also known as generalized mitis rdeb|autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|autosomal recessive dystrophic epidermolysis bullosa, generalized other|rdeb, generalized intermediate|rdeb-generalized other|rdeb, non-hallopeau-siemens type|r

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Dysphagia
  • Visual loss


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE

Low match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Low match JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT


The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS ) and hereditary hemorrhagic telangiectasia (HHT ) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010).

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT Is also known as jps/hht|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|juvenile polyposis with hereditary hemorrhagic telangiectasia|jp/hht syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Ventriculomegaly
  • Dilatation
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT

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 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3


OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3 Is also known as carbonic anhydrase ii deficiency|guibaud-vainsel syndrome|marble brain disease|osteopetrosis with renal tubular acidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3

Low match SRD5A3-CDG


SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

SRD5A3-CDG Is also known as cdg1q|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|congenital disorder of glycosylation type iq|cdg-iq|congenital disorder of glycosylation type 1q|cdg syndrome type iq|cdg iq|cdgiq

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SRD5A3-CDG

Low match SENIOR-LOKEN SYNDROME


Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome|juvenile nephronophthisis with leber amaurosis|loken-senior syndrome|renal dysplasia-retinal aplasia syndrome|nephronophthisis with retinal dystrophy|slsn|renal dysplasia and retinal aplasia|senior-loken syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Visual loss

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Rod-cone dystrophy Progressive visual loss Ataxia Nystagmus Retinal dystrophy

Rare Symptoms - Less than 30% cases


Fatigue Visual impairment Cognitive impairment Dysphagia Hemangioma Optic nerve compression Myopathy Paraplegia Renal insufficiency Abnormality of skin pigmentation Blindness Reduced visual acuity Photophobia Cerebellar atrophy Nyctalopia Retinal degeneration Muscle cramps Exercise intolerance Muscle weakness Sensorineural hearing impairment Hepatosplenomegaly Encephalopathy Osteopetrosis Osteomalacia Extramedullary hematopoiesis Basal ganglia calcification Abnormal lung morphology Renal tubular acidosis Restrictive ventilatory defect Poor appetite Hypertelorism Cranial hyperostosis Distal renal tubular acidosis Proximal renal tubular acidosis Diaphyseal sclerosis Periodic hypokalemic paresis Elevated serum acid phosphatase Generalized hypotonia Dental malocclusion Abnormal facial shape Low-set ears Motor delay Cerebral calcification Abnormal auditory evoked potentials Metabolic acidosis Increased variability in muscle fiber diameter Dystonia Areflexia Pes cavus Hypogonadism Autistic behavior Spastic paraplegia Ophthalmoplegia Abnormality of eye movement Horizontal nystagmus External ophthalmoplegia Ragged-red muscle fibers Abnormal electroretinogram Progressive sensorineural hearing impairment Acidosis Macrocytic anemia Central scotoma Progressive external ophthalmoplegia Episodic ataxia Abnormal heart morphology Red-green dyschromatopsia Tritanomaly Centrocecal scotoma Abnormal amplitude of pattern reversal visual evoked potentials Growth delay Intellectual disability, severe Abnormality of the dentition Depressed nasal bridge Cerebellar vermis hypoplasia Brachycephaly Polyuria Renal cyst Involuntary movements Renal dysplasia Abnormality of retinal pigmentation Hepatic fibrosis Incoordination Chronic kidney disease Polydipsia Premature ovarian insufficiency Nephritis Cone-shaped epiphysis Diabetes insipidus Nausea Nephronophthisis High hypermetropia Congenital blindness Severe sensorineural hearing impairment Peripheral visual field loss Tubulointerstitial nephritis Retinal dysplasia Congenital hepatic fibrosis Tapetoretinal degeneration Abnormality of bone mineral density Azotemia Multiple small medullary renal cysts Nephropathy Stage 5 chronic kidney disease Hyperkeratosis Erythroderma Elevated hepatic transaminase Coloboma Ichthyosis Polymicrogyria Palmoplantar keratoderma Eczema Optic atrophy Hypertrichosis Inflammatory abnormality of the skin Cutis laxa Oligodontia Optic nerve hypoplasia Abnormality of coagulation Hypermetropia Microcytic anemia Type I transferrin isoform profile Anterior pituitary hypoplasia Reduced antithrombin III activity Cataract Hypertension Abnormality of the skeletal system Vomiting Weight loss Abnormality of the kidney Scarring Retinopathy Gait disturbance Arteriovenous malformation Hyperreflexia Skin vesicle Constipation Alopecia Narrow mouth Nail dystrophy Hypotrichosis Carious teeth Delayed puberty Abnormality of the hair Squamous cell carcinoma Milia Atrophic scars Fragile skin Failure to thrive Aplasia cutis congenita Corneal erosion Ankyloglossia Esophageal stricture Oral mucosal blisters Abnormality of the anus Mitten deformity Pain High palate Delayed speech and language development Brachydactyly Feeding difficulties Abnormal trabecular bone morphology Jaundice Precocious puberty Pallor Optic disc pallor Constriction of peripheral visual field Macular atrophy Chorioretinal degeneration Hernia Proptosis Umbilical hernia Facial asymmetry Increased intracranial pressure Elevated alkaline phosphatase Gingival bleeding Hypocalcemia Hiatus hernia Spinal cord compression Diastasis recti Facial hyperostosis Fever Pneumonia Decreased antibody level in blood Pancytopenia Increased bone mineral density Recurrent pneumonia Bone marrow hypocellularity Splenomegaly Myalgia Peripheral neuropathy Aortic dissection Mitral valve prolapse Abnormality of extrapyramidal motor function Epistaxis Hemiparesis Mitral regurgitation Telangiectasia Aortic aneurysm Clubbing Colon cancer Iron deficiency anemia Subarachnoid hemorrhage Hematochezia Joint hypermobility Cavernous hemangioma Hamartomatous polyposis Cerebral arteriovenous malformation Gastrointestinal carcinoma Pulmonary arteriovenous malformation Hepatic arteriovenous malformation Intrapulmonary shunt Juvenile gastrointestinal polyposis Strabismus Spasticity Ptosis Gastrointestinal hemorrhage Stroke Mental deterioration Rhabdomyolysis Paralysis Muscular dystrophy Hemolytic anemia Migraine Tetraparesis Hyperbilirubinemia Purpura Spastic tetraparesis Hemiplegia Emotional lability Aphasia Acute kidney injury Arthritis Reticulocytosis Progressive encephalopathy Myoglobinuria Decreased mean corpuscular volume Increased muscle fatiguability Recurrent myoglobinuria Exercise-induced muscle cramps Exercise-induced myoglobinuria Neoplasm Ventriculomegaly Dilatation Arrhythmia Exudative retinopathy



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