Abnormality of the skeletal system, and Pallor

Diseases related with Abnormality of the skeletal system and Pallor

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Pallor that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Rod-cone dystrophy
  • Pallor
  • Retinal degeneration


SOURCES: OMIM MESH MENDELIAN

More info about RETINITIS PIGMENTOSA 42; RP42

Related symptoms:

  • Blindness
  • Rod-cone dystrophy
  • Pallor
  • Nyctalopia
  • Optic disc pallor


SOURCES: OMIM MENDELIAN

More info about NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G; CSNB1G

Related symptoms:

  • Pain
  • Myopathy
  • Pallor
  • Scarring
  • Myocardial fibrosis


SOURCES: OMIM MENDELIAN

More info about SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED; SCFAI

Other less relevant matches:

Related symptoms:

  • Cataract
  • Visual loss
  • Rod-cone dystrophy
  • Pallor
  • Nyctalopia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 23; RP23

Related symptoms:

  • Polydactyly
  • Pallor
  • Micromelia
  • Retinal degeneration
  • Abnormality of skin pigmentation


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 81; RP81

Related symptoms:

  • Dementia
  • Pallor
  • Neuronal loss in central nervous system
  • Amyotrophic lateral sclerosis


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 23; ALS23

Related symptoms:

  • Rod-cone dystrophy
  • Reduced visual acuity
  • Pallor
  • Peripheral visual field loss


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 60; RP60

Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Usually inherited as an autosomal dominant trait, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton (summary by McGuire et al., 1988). Genetic Heterogeneity of ElliptocytosisElliptocytosis-2 (OMIM ) is caused by mutation in the SPTA1 gene (OMIM ). Elliptocytosis-3 (OMIM ) is caused by mutation in the SPTB gene (OMIM ). Elliptocytosis-4 (OMIM ), also known as Southeast Asian ovalocytosis, is caused by mutation in the SLC4A1 gene (OMIM ). Also see pyropoikilocytosis (OMIM ).See Delaunay (2007) for a discussion of the molecular basis of hereditary red cell membrane disorders.

ELLIPTOCYTOSIS 1; EL1 Is also known as protein 4.1 of erythrocyte membrane, defect of|elliptocytosis, rhesus-linked type|4.1- trait|4.1-minus trait

Related symptoms:

  • Anemia
  • Jaundice
  • Pallor
  • Hemolytic anemia
  • Poikilocytosis


SOURCES: OMIM MESH MENDELIAN

More info about ELLIPTOCYTOSIS 1; EL1

Related symptoms:

  • Blindness
  • Rod-cone dystrophy
  • Pallor
  • Nyctalopia
  • Retinal dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 28; RP28

Related symptoms:

  • Visual loss
  • Rod-cone dystrophy
  • Pallor
  • Nyctalopia
  • Retinal degeneration


SOURCES: MESH OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 10; RP10

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Pallor

Symptoms // Phenotype % cases
Rod-cone dystrophy Common - Between 50% and 80% cases
Nyctalopia Uncommon - Between 30% and 50% cases
Retinal degeneration Uncommon - Between 30% and 50% cases
Blindness Rare - less than 30% cases
Optic disc pallor Rare - less than 30% cases

Other less frequent symptoms

Patients with Abnormality of the skeletal system and Pallor. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Bone spicule pigmentation of the retina Constriction of peripheral visual field Visual loss Jaundice Reduced visual acuity Peripheral visual field loss Anemia Congenital hemolytic anemia Hemolytic anemia Poikilocytosis Elliptocytosis Neuronal loss in central nervous system Pyropoikilocytosis Retinal dystrophy Amyotrophic lateral sclerosis Micromelia Dementia Short ribs Abnormality of skin pigmentation Polydactyly Eccentric visual fixation Posterior subcapsular cataract Subcapsular cataract Abnormality of color vision Cataract Myocardial fibrosis Scarring Myopathy Pain Congenital stationary night blindness Undetectable light- and dark-adapted electroretinogram


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