Recessive hereditary methemoglobinemia type 2

General Information (adopted from Orphanet):

Synonyms, Signs: METHEMOGLOBINEMIA, CONGENITAL, AUTOSOMAL RECESSIVE METHEMOGLOBINEMIA, TYPE I, INCLUDED
METHEMOGLOBINEMIA, TYPE II, INCLUDED
NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY
NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY
Recessive congenital methemoglobinemia type 2
NADH-diaphorase deficiency type 2
NADH-cytochrome b5reductase deficiency type 2
NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE II, INCLUDED
NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE I, INCLUDED
Number of Symptoms 15
OrphanetNr: 139380
OMIM Id: 250800
ICD-10: D74.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 100 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hereditary methemoglobinemia
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0000486) Strabismus 576 / 7739
3
(HPO:0002315) Headache 175 / 7739
4
(HPO:0001257) Spasticity 251 / 7739
5
(HPO:0001263) Global developmental delay 853 / 7739
6
(HPO:0001249) Intellectual disability 1089 / 7739
7
(HPO:0002179) Opisthotonus 35 / 7739
8
(HPO:0001276) Hypertonia 317 / 7739
9
(HPO:0001510) Growth delay 295 / 7739
10
(HPO:0000961) Cyanosis 60 / 7739
11
(HPO:0001901) Polycythemia 16 / 7739
12
(HPO:0002875) Exertional dyspnea 29 / 7739
13
(OMIM) Type I - methemoglobin concentration 10-35% 2 / 7739
14
(OMIM) NADH-cytochrome b(5) reductase deficiency 2 / 7739
15
(OMIM) Myelination defects (type II) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Methemoglobinemia due to NADH-cytochrome b5 reductase deficiency is an autosomal recessive disorder characterized clinically by decreased oxygen carrying capacity of the blood, with resultant cyanosis and hypoxia (review by Percy and Lappin, 2008).

There are 2 ...

Diagnosis OMIM - Prenatal Diagnosis

Kaftory et al. (1986) made the prenatal diagnosis of congenital methemoglobinemia with mental retardation by demonstration of an almost complete deficiency of cytochrome b5 reductase activity in cultured amniotic fluid cells.
Clinical Description OMIM Gibson (1948) and Barcroft et al. (1945) correctly concluded that erythrocytes from affected individuals with methemoglobinemia were unable to reduce methemoglobin that is formed continuously at a normal rate under physiologic conditions. Gibson (1948) is credited with identifying ...
Molecular genetics OMIM In a 3-year-old Chinese girl with type I methemoglobinemia, Wu et al. (1998) identified a homozygous mutation in the CYB5R3 gene (L73P; 613213.0013).

In an Italian girl with severe type II methemoglobinemia, Shirabe et al. (1995) ...

Population genetics OMIM The enzymatic type of methemoglobinemia has unprecedentedly high frequency in the Athabaskan Indians (Eskimos) of Alaska (Scott, 1960; Scott et al., 1963). Balsamo et al. (1964) also observed CYB5R3 deficiency in Navajo Indians. Since the Navajo Indians and ...