Anemia, and Retinal degeneration

Diseases related with Anemia and Retinal degeneration

In the following list you will find some of the most common rare diseases related to Anemia and Retinal degeneration 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 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 NEPHRONOPHTHISIS 11; NPHP11


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 11; NPHP11

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Other less relevant matches:

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

Low match NEPHRONOPHTHISIS 1; NPHP1


Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. It is the most frequent genetic cause of renal failure in children. NPHP may be combined with extrarenal manifestations, such as liver fibrosis, situs inversus, or cardiac malformations. When nephronophthisis is combined with retinitis pigmentosa, the disorder is known as Senior-Loken syndrome (SLSN1 ); when it is combined with cerebellar vermis hypoplasia, the disorder is known as Joubert syndrome (JBTS1 ); and when it is combined with multiple developmental and neurologic abnormalities, the disorder is often known as Meckel-Gruber syndrome (MKS1 ). Because most NPHP gene products localize to the cilium or its associated structures, nephronophthisis and the related syndromes have been termed 'ciliopathies' (summary by Hoff et al., 2013).Clinical features of familial juvenile nephronophthisis include anemia, polyuria, polydipsia, isosthenuria, and death in uremia. Simms et al. (2009) provided a detailed review of nephronophthisis, including a discussion of clinical features and molecular genetics. Genetic Heterogeneity of NephronophthisisNPHP2 (OMIM ) is caused by mutation in the INVS gene (OMIM ) on chromosome 9q31; NPHP3 (OMIM ) is caused by mutation in the NPHP3 gene (OMIM ) on chromosome 3q22; NPHP4 (OMIM ) is caused by mutation in the NPHP4 gene (OMIM ) on chromosome 1p36; NPHP7 (OMIM ) is caused by mutation in the GLIS2 gene (OMIM ) on chromosome 16p13; NPHP9 (OMIM ) is caused by mutation in the NEK8 gene (OMIM ) on chromosome 17q11; NPHP11 (OMIM ) is caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q22; NPHP12 (OMIM ) is caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; NPHP13 (OMIM ) is caused by mutation in the WDR19 gene (OMIM ) on chromosome 4p14; NPHP14 (OMIM ) is caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16; NPHP15 (OMIM ) is caused by mutation in the CEP164 gene (OMIM ) on chromosome 11q; NPHP16 (OMIM ) is caused by mutation in the ANKS6 gene (OMIM ) on chromosome 9q22; NPHP18 (OMIM ) is caused by mutation in the CEP83 gene (OMIM ) on chromosome 12q22; NPHP19 (OMIM ) is caused by mutation in the DCDC2 gene (OMIM ) on chromosome 6p22; and NPHP20 (OMIM ) is caused by mutation in the MAPKBP1 gene (OMIM ) on chromosome 15q13.

NEPHRONOPHTHISIS 1; NPHP1 Is also known as nephronophthisis, familial juvenile|nph1

Related symptoms:

  • Growth delay
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Rod-cone dystrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEPHRONOPHTHISIS 1; NPHP1

Low match ABETALIPOPROTEINEMIA


Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic|fhbl|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|homozygous familial hypobetalipoproteinemia|bassen-kornzweig disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscular hypotonia
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA

Low match ACERULOPLASMINEMIA


Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

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

Low match MUCOLIPIDOSIS IV; ML4


Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv|sialolipidosis

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOLIPIDOSIS IV; ML4

Low match NIEMANN-PICK DISEASE, TYPE C1; NPC1


Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

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

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Rod-cone dystrophy Uncommon - Between 30% and 50% cases
Polyuria Uncommon - Between 30% and 50% cases
Hepatic fibrosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of retinal pigmentation Intellectual disability Congenital hepatic fibrosis Nephronophthisis Polydipsia Stage 5 chronic kidney disease Renal insufficiency Nystagmus Growth delay Visual impairment Muscular hypotonia Spasticity Retinal dystrophy Nyctalopia Abnormality of the nervous system Photophobia Dystonia Cognitive impairment

Rare Symptoms - Less than 30% cases


Renal cyst Nephropathy Progressive neurologic deterioration Abnormality of the kidney Retinal dysplasia Spastic tetraplegia Hypertension Cataract Abnormality of movement Multiple small medullary renal cysts Gait disturbance Thrombocytopenia Abnormality of the cerebral white matter Increased serum ferritin Involuntary movements Chorea Neurodegeneration Cirrhosis Dysarthria Tremor Fatigue Behavioral abnormality Decreased serum iron Dementia Myopia Renal corticomedullary cysts Tubular basement membrane disintegration Seizures Hearing impairment Developmental regression Fever Hyperreflexia Optic disc pallor Depressivity Tubular atrophy Abnormality of skin pigmentation Pallor Reduced visual acuity Strabismus Chorioretinal degeneration Visual loss Blindness Hepatosplenomegaly Generalized hypotonia Cerebral dysmyelination Dysplastic corpus callosum Microcephaly Corneal opacity Hoarse cry Exudative retinopathy Progressive psychomotor deterioration Titubation Oligosacchariduria Abnormality of mucopolysaccharide metabolism Truncal titubation Abnormality of ganglioside metabolism Esodeviation Severe vision loss Decreased light- and dark-adapted electroretinogram amplitude Optic atrophy Hepatomegaly Esotropia Coarse facial features Skeletal dysplasia Babinski sign Absent speech Cerebellar atrophy Hypoplasia of the corpus callosum High myopia Motor deterioration Amblyopia Aspiration Opacification of the corneal stroma Iron deficiency anemia Abnormal facial shape Palpebral edema Abnormality of abdomen morphology Developmental stagnation Abnormality of eye movement Neoplasm Intrauterine growth retardation Visceromegaly Athetosis Prolonged neonatal jaundice Neurofibrillary tangles Loss of speech Trismus Head tremor Supranuclear gaze palsy Spastic dysarthria Aplasia/Hypoplasia of the abdominal wall musculature Foam cells Vertical supranuclear gaze palsy Schizophrenia Cataplexy Supranuclear ophthalmoplegia Bone-marrow foam cells Rapid neurologic deterioration Fetal ascites Congenital thrombocytopenia Sea-blue histiocytosis Foam cells in visceral organs and CNS Abnormal cholesterol homeostasis Low cholesterol esterification rates Dysphonia Clumsiness Dysphagia Generalized tonic-clonic seizures Splenomegaly Pneumonia Myoclonus Jaundice Neonatal hypotonia Mental deterioration Paralysis Abnormal pyramidal sign Skin rash Neurological speech impairment Ophthalmoplegia Intention tremor Bruising susceptibility Sleep disturbance Ascites Tetraplegia Neuronal loss in central nervous system Abnormality of bone mineral density Oligohydramnios Mitral valve prolapse Intellectual disability, profound Psychosis Azotemia Blepharospasm Tapetoretinal degeneration Peripheral demyelination Hyposthenuria Peripheral neuropathy Diarrhea Carcinoma Abnormality of the liver Malabsorption Hepatic failure Hepatic steatosis Chronic diarrhea Tubulointerstitial fibrosis Reduced tendon reflexes Abnormality of the coagulation cascade Renal cell carcinoma Acanthocytosis Fat malabsorption Hypocholesterolemia Decreased LDL cholesterol concentration Abetalipoproteinemia Increased HDL cholesterol concentration Tubulointerstitial abnormality Agenesis of permanent teeth Delayed speech and language development Macular edema Exercise intolerance Constriction of peripheral visual field Macular atrophy Anisocoria Edema Arthritis Rheumatoid arthritis Retinal atrophy Anisocytosis Juvenile rheumatoid arthritis Situs inversus totalis Poikilocytosis Retinal pigment epithelial atrophy Elliptocytosis Decreased mean corpuscular volume Epiretinal membrane Ring scotoma Photoreceptor layer loss on macular OCT Proteinuria Cerebellar vermis hypoplasia Steatocystoma multiplex Respiratory distress Tubulointerstitial nephritis Renal dysplasia Sensorineural hearing impairment Abnormality of the skeletal system Vomiting Weight loss Scarring Retinopathy Hypermetropia Nausea Progressive visual loss Incoordination Aceruloplasminemia Chronic kidney disease Premature ovarian insufficiency Nephritis Cone-shaped epiphysis Diabetes insipidus High hypermetropia Congenital blindness Severe sensorineural hearing impairment Peripheral visual field loss Short stature Elevated hepatic iron concentration Congestive heart failure Memory impairment Hypertonia Diabetes mellitus Gait ataxia Hypothyroidism Difficulty walking Rigidity Poor speech Confusion Parkinsonism Abnormality of extrapyramidal motor function Decreased serum ceruloplasmin Type I diabetes mellitus Torticollis Cerebral palsy Hyperkinesis Slurred speech Muscle fibrillation Cogwheel rigidity Scanning speech Refractory anemia Fatal liver failure in infancy



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