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
ICD-10: D58.2
UMLs:
MeSH:
MedDRA:
Snomed:

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: Sort by abundance 

1
(HPO:0000952) Jaundice rare [HPO:skoehler] 105 / 7739
2
(HPO:0002240) Hepatomegaly rare [HPO:skoehler] 467 / 7739
3
(HPO:0000961) Cyanosis 60 / 7739
4
(HPO:0001923) Reticulocytosis rare [HPO:skoehler] 28 / 7739
5
(HPO:0001903) Anemia rare [HPO:skoehler] 289 / 7739
6
(HPO:0012119) Methemoglobinemia 5 / 7739
7
(OMIM) Decreased oxygen-binding capacity of hemoglobin 1 / 7739
8
(HPO:0003577) Congenital onset 133 / 7739
9
(OMIM) Decreased hemoglobin oxygen saturation 1 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...