Anemia, and Glaucoma

Diseases related with Anemia and Glaucoma

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


Top matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Low match MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16

Low match MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA


Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Is also known as msa|mlasa|myopathy, lactic acidosis and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

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Other less relevant matches:

Low match MUCKLE-WELLS SYNDROME


Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

Low match WOLFRAM SYNDROME


Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

Low match BLAU SYNDROME


Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

Related symptoms:

  • Cataract
  • Anemia
  • Hypertension
  • Fever
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about BLAU SYNDROME

Low match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Low match AICARDI-GOUTIÈRES SYNDROME


Aicardi-Goutières syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.

AICARDI-GOUTIÈRES SYNDROME Is also known as encephalopathy with basal ganglia calcification|encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AICARDI-GOUTIÈRES SYNDROME

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 SINGLETON-MERTEN DYSPLASIA


Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Top 5 symptoms//phenotypes associated to Anemia and Glaucoma

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Skin rash Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Ichthyosis Delayed puberty Short stature Visual loss Abnormal facial shape Global developmental delay Dry skin Nephropathy

Rare Symptoms - Less than 30% cases


Abnormality of skin pigmentation Micrognathia Hypertension Spasticity Lymphadenopathy Congestive heart failure Cataract Nystagmus Cerebral cortical atrophy Decreased body weight Blindness Failure to thrive Muscle weakness Muscular hypotonia Increased serum lactate Myopathy Abnormality of metabolism/homeostasis Recurrent infections Flexion contracture Camptodactyly of finger Myelodysplasia Arthralgia Pain Pes cavus Splenomegaly Uveitis Generalized hypotonia Optic atrophy Fever Feeding difficulties in infancy Neoplasm Scaling skin Osteosarcoma Ewing sarcoma Pineal cyst Neuroblastic tumors Soft tissue sarcoma Leukocoria Hyperreflexia Malar rash Pineoblastoma Glioblastoma multiforme Hyphema Feeding difficulties Fibrosarcoma Burkitt lymphoma Vitritis Histiocytoma Iris neovascularization Pinealoma Sebaceous gland carcinoma Retinal calcification Neoplasm of the eye Liposarcoma Anemia of inadequate production Leiomyosarcoma Visual impairment Proptosis Weight loss Headache Malar flattening Vomiting Hydrocephalus Cleft palate Leukemia Strabismus Hearing impairment Abnormal inflammatory response Retrobulbar optic neuritis Large vessel vasculitis Clear cell renal cell carcinoma Polyarticular arthritis Carcinoma Postural instability Anisocoria Acute monocytic leukemia Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Astrocytoma Hypertonia Lymphoma Chromosome breakage Acute myeloid leukemia Cellulitis Neurofibromas Sarcoma Increased intracranial pressure Anorexia Hypoplasia of the corpus callosum Plagiocephaly Thrombocytopenia Aortic valve stenosis Periodontitis Heart block Epiphora Psoriasiform dermatitis Osteolysis Coxa valga Cutaneous photosensitivity Osteolytic defects of the phalanges of the hand Cardiomegaly Waddling gait Generalized muscle weakness Hypoplasia of the maxilla Smooth philtrum Genu valgum High anterior hairline Onycholysis Hip dislocation Dentinogenesis imperfecta limited to primary teeth Expanded metacarpals with widened medullary cavities Hypoplastic distal radial epiphyses Expanded metatarsals with widened medullary cavities Aortic arch calcification Hypoplasia of the tooth germ Tendon rupture Unerupted tooth Subvalvular aortic stenosis Premature loss of permanent teeth Mitral valve calcification Hip subluxation Aortic valve calcification Shallow acetabular fossae Muscle fiber atrophy Carious teeth Broad forehead Muscular hypotonia of the trunk Leukodystrophy Arthropathy Basal ganglia calcification Hemiplegia/hemiparesis Toe walking Leukoencephalopathy Abnormal salivary gland morphology Lower limb spasticity Central hypotonia Postnatal microcephaly Choreoathetosis Intellectual disability, profound Cerebral calcification Delayed myelination Irritability Thrombocytosis Eyelid coloboma Joint laxity Talipes equinovarus Thin upper lip vermilion Osteopenia Osteoporosis Recurrent respiratory infections Arrhythmia Abnormality of the dentition Skeletal muscle atrophy Immune dysregulation Myopia Deep white matter hypodensities Chilblains CSF lymphocytic pleiocytosis Arrhinencephaly Porencephalic cyst Abnormal choroid morphology Photophobia Iridocyclitis EMG abnormality Muscle fibrillation Scoliosis High palate Edema Kyphosis Short nose Long philtrum Encephalopathy Myoclonus Acidosis Pallor Stroke Lactic acidosis Progressive muscle weakness Exercise intolerance Adducted thumb Ragged-red muscle fibers Microcytic anemia Increased serum ferritin Mitochondrial myopathy Stroke-like episode Distichiasis Sideroblastic anemia Hypochromic anemia Cytochrome C oxidase-negative muscle fibers Erythroid hyperplasia Generalized limb muscle atrophy Chronic lactic acidosis Hepatomegaly Macrocephaly Cortical gyral simplification Drooling Myalgia Abnormal intestine morphology Intrauterine growth retardation Diarrhea Immunodeficiency Respiratory failure Hypothyroidism Postnatal growth retardation Respiratory tract infection Hemolytic anemia Neutropenia Eczema Inflammatory abnormality of the skin Abnormal lung morphology Bronchiectasis Lymphopenia Recurrent skin infections Knee flexion contracture Erythroderma Autoimmune hemolytic anemia Atopic dermatitis Severe intrauterine growth retardation Protein-losing enteropathy Folliculitis Erythroid dysplasia Cryptorchidism Agenesis of corpus callosum Telecanthus Tetraplegia Sloping forehead Spastic tetraplegia Open mouth Abdominal pain Arthritis Posterior uveitis Papule Abnormal autonomic nervous system physiology Abnormality of the urinary system Polydipsia Diabetes insipidus Dysuria Male hypogonadism Central apnea Gastric ulcer Abnormality of mesentery morphology Dyspnea Facial palsy Erythema Abnormality of the liver Retinopathy Stage 5 chronic kidney disease Recurrent urinary tract infections Limitation of joint mobility Pulmonary arterial hypertension Hyperpigmentation of the skin Skin ulcer Aortic aneurysm Keratitis Pericarditis Joint swelling Xerostomia Abnormal cranial nerve morphology Abnormality of the optic nerve Abnormality of the retinal vasculature Synovitis Erythema nodosum Hallucinations Gastrointestinal hemorrhage Nephrotic syndrome Hernia of the abdominal wall Abnormality of the genital system Vasculitis Conjunctivitis Cranial nerve paralysis Abnormal palate morphology Urticaria Abnormality of the voice Restrictive ventilatory defect Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Broad foot Abnormality of the nose Recurrent aphthous stomatitis Episcleritis Renal amyloidosis Sleep disturbance Dementia Malabsorption Ophthalmoplegia Joint stiffness Developmental regression Diabetes mellitus Hypogonadism Constipation Ataxia Behavioral abnormality Cardiomyopathy Respiratory insufficiency Dysarthria Peripheral neuropathy Sensorineural hearing impairment Expanded phalanges with widened medullary cavities



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Fever and Lactic acidosis, related diseases and genetic alterations Tremor and Meningitis, related diseases and genetic alterations Myopathy and Hypodontia, related diseases and genetic alterations Spasticity and Decreased fetal movement, related diseases and genetic alterations Micrognathia and Low-set ears, related diseases and genetic alterations

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