Anemia, and Strabismus

Diseases related with Anemia and Strabismus

In the following list you will find some of the most common rare diseases related to Anemia and Strabismus 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 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

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Other less relevant matches:

Low match X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA


X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.

X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA Is also known as x-linked sideroblastic anemia with ataxia|xlsa-a|pagon-bird-detter syndrome

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA

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 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8


Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Low match GAUCHER DISEASE, TYPE II


Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

Low match INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS


Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS Is also known as fad1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

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

Top 5 symptoms//phenotypes associated to Anemia and Strabismus

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Seizures Spasticity Ophthalmoplegia

Rare Symptoms - Less than 30% cases


Encephalopathy Generalized hypotonia Muscle weakness Gait disturbance Dystonia External ophthalmoplegia Respiratory failure Developmental regression Progressive neurologic deterioration Growth delay Autistic behavior Dysphagia Esotropia Intellectual disability Cerebral atrophy Leukemia Intrauterine growth retardation Dysarthria Downturned corners of mouth Astigmatism Synophrys Hypermetropia Generalized tonic-clonic seizures Abnormal cardiac septum morphology Myopia Wide mouth Red-green dyschromatopsia Tritanomaly Thin upper lip vermilion Autism Behavioral abnormality Downslanted palpebral fissures Abnormality of eye movement Wide nasal bridge Abnormal auditory evoked potentials Medulloblastoma Acute myeloid leukemia Anteriorly placed anus Lipoma Acute leukemia Chromosome breakage Peters anomaly Chromosomal breakage induced by crosslinking agents Visual impairment T-cell acute lymphoblastic leukemias Hypertelorism Abnormal facial shape Centrocecal scotoma Cryptorchidism Delayed speech and language development Neutropenia Generalized myoclonic seizures Paraplegia Myopathy Progressive visual loss Muscle cramps Ptosis Cognitive impairment Peripheral neuropathy Optic atrophy Cerebellar atrophy Ragged-red muscle fibers Visual loss Areflexia Pes cavus Hypogonadism Reduced visual acuity Spastic paraplegia Horizontal nystagmus Abnormal electroretinogram Epileptic encephalopathy Progressive external ophthalmoplegia Hypsarrhythmia Status epilepticus Broad-based gait Episodic ataxia Cerebral visual impairment Obsessive-compulsive behavior Delayed ability to walk Increased variability in muscle fiber diameter Enlarged cisterna magna Central scotoma Macrocytic anemia Breast carcinoma Progressive sensorineural hearing impairment Hearing impairment Sensorineural hearing impairment Myelodysplasia Trismus Horseshoe kidney Tubular atrophy Retinal degeneration Stage 5 chronic kidney disease Hepatic fibrosis Polydipsia Polyuria Nephronophthisis Congenital hepatic fibrosis Nonprogressive cerebellar ataxia Anisocoria Renal corticomedullary cysts Tubular basement membrane disintegration Hypoplasia of the corpus callosum Hypertonia Dyspnea Renal insufficiency Sideroblastic anemia Irritability Abnormality of movement Hyperpigmentation of the skin Scoliosis Muscular hypotonia Abnormality of metabolism/homeostasis Babinski sign Neurological speech impairment Dysmetria Hypochromic microcytic anemia Intention tremor Clonus Incoordination Dysdiadochokinesis Microcytic anemia Hyperactive deep tendon reflexes Acidosis Lethargy Bone marrow hypocellularity Microcephaly Aspiration Oculomotor apraxia Protuberant abdomen Bulbar signs Recurrent aspiration pneumonia Short stature Hydrocephalus Rigidity Microphthalmia Corneal opacity Anal atresia Renal hypoplasia Short thumb Cafe-au-lait spot Apnea Hepatosplenomegaly Lactic acidosis Leukoencephalopathy Neurodegeneration Increased serum lactate Optic disc pallor Tetraparesis Exotropia Spastic tetraparesis Failure to thrive in infancy Thrombocytopenia Stridor Brisk reflexes Abnormality of the periventricular white matter Feeding difficulties Hepatomegaly Respiratory distress Splenomegaly Abnormal amplitude of pattern reversal visual evoked potentials



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