Hemoglobinopathy Toms River
General Information (adopted from Orphanet):
Synonyms, Signs: |
TNCY Transient neonatal cyanosis and anemia due to Toms River Hemoglobin |
Number of Symptoms | 10 |
OrphanetNr: | 280615 |
OMIM Id: |
613977
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ICD-10: |
D58.2 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant [Orphanet] |
Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Hemoglobinopathy
-Rare genetic disease -Rare hematologic disease |
Symptom Information:
|
(HPO:0000952) | Jaundice | rare [HPO:skoehler] | 105 / 7739 | |||
|
(HPO:0002240) | Hepatomegaly | rare [HPO:skoehler] | 467 / 7739 | |||
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(HPO:0000961) | Cyanosis | 60 / 7739 | ||||
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(HPO:0001923) | Reticulocytosis | rare [HPO:skoehler] | 28 / 7739 | |||
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(HPO:0001903) | Anemia | rare [HPO:skoehler] | 289 / 7739 | |||
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(HPO:0012119) | Methemoglobinemia | 5 / 7739 | ||||
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(OMIM) | Decreased oxygen-binding capacity of hemoglobin | 1 / 7739 | ||||
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(HPO:0003577) | Congenital onset | 133 / 7739 | ||||
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(OMIM) | Decreased hemoglobin oxygen saturation | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
Neonatal cyanosis is characterized by symptoms in the fetus and neonate that gradually abate by 5 to 6 months of age. The disorder is caused by a defect in the fetal hemoglobin chain, which causes reduced affinity for ... |
Clinical Description OMIM |
Hayashi et al. (1980) reported a premature Japanese baby with severe cyanosis and jaundice. Priest et al. (1989) reported a well newborn who was cyanotic at birth. He was found to have a mutant gamma-globin chain, ... |
Molecular genetics OMIM |
A methemoglobinemic (M) variant of fetal hemoglobin (HbF), known as Hb FM-Osaka (H63Y; 142250.0025), was found in a premature Japanese baby with severe jaundice and cyanosis (Hayashi et al., 1980). The Osaka variant was also found in newborns ... |