MCID: MTH082
MIFTS: 18

Methemoglobinemia and Ambiguous Genitalia

Categories: Genetic diseases, Reproductive diseases

Aliases & Classifications for Methemoglobinemia and Ambiguous Genitalia

MalaCards integrated aliases for Methemoglobinemia and Ambiguous Genitalia:

Name: Methemoglobinemia and Ambiguous Genitalia 57
Methemoglobinemia Type Iv 75 73
Methemoglobinemia Type 4 29 6
Methemoglobinemia Due to Deficiency of Cytochrome B5, Formerly 57
Methemoglobinemia Due to Deficiency of Cytochrome B5 75
Isolated 17,20-Lyase Deficiency, Pure 57
Methemoglobinemia Type Iv, Formerly 57
Methemoglobinemia Cyb5a-Related 75
Methemoglobinemia, Type Iv 13
Methemoglobinemia, Type 4 40
Methb-Cyb5a 75
Metag 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
see the more common methemoglobinemia types i and ii


HPO:

32
methemoglobinemia and ambiguous genitalia:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 250790
MedGen 42 C2673427
MeSH 44 D008708
UMLS 73 C2673427

Summaries for Methemoglobinemia and Ambiguous Genitalia

OMIM : 57 Methemoglobinemia and ambiguous genitalia is due to isolated 17,20-lyase deficiency, defined by apparently normal 17-alpha-hydroxylase activity but severely reduced 17,20-lyase activity of the CYP17A1 enzyme (609300), which results in sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve. The clinical phenotype is characterized by male undermasculinization, with absent or disturbed pubertal development in both 46,XY and 46,XX individuals. Mild to severe methemoglobinemia has been reported in these patients (Idkowiak et al., 2012). Other autosomal recessive methemoglobinemias include types I and II (see 250800), caused by mutation in the CYB5R3 gene (613213). Isolated 17,20-lyase deficiency can also be caused by mutation in the CYP17A1 gene (609300), and mutation in the POR gene can manifest clinically as isolated 17,20-lyase deficiency (see 124015.0016). (250790)

MalaCards based summary : Methemoglobinemia and Ambiguous Genitalia, is also known as methemoglobinemia type iv. An important gene associated with Methemoglobinemia and Ambiguous Genitalia is CYB5A (Cytochrome B5 Type A). Related phenotypes are male pseudohermaphroditism and cyanosis

UniProtKB/Swiss-Prot : 75 Methemoglobinemia CYB5A-related: A form of methemoglobinemia, a hematologic disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in decreased oxygen carrying capacity of the blood, cyanosis and hypoxia.

Related Diseases for Methemoglobinemia and Ambiguous Genitalia

Symptoms & Phenotypes for Methemoglobinemia and Ambiguous Genitalia

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Male:
hypospadias
male pseudohermaphroditism
ambiguous genitalia
bifid scrotum
micropenis
more
Skin Nails Hair Skin:
cyanosis due to methemoglobinemia

Laboratory Abnormalities:
methemoglobin concentration 12 to 19% (in 1 patient)
methemoglobinemia, mild (in some patients)

Endocrine Features:
low testosterone levels
isolated 17,20-lyase deficiency
elevated luteinizing hormone levels
subnormal response of testosterone to human chorionic gonadotropin stimulation
elevated 17-hydroxyprogesterone levels
more
Hematology:
decreased levels of erythrocyte cytochrome b5


Clinical features from OMIM:

250790

Human phenotypes related to Methemoglobinemia and Ambiguous Genitalia:

32
# Description HPO Frequency HPO Source Accession
1 male pseudohermaphroditism 32 HP:0000037
2 cyanosis 32 HP:0000961
3 abnormality of metabolism/homeostasis 32 HP:0001939
4 methemoglobinemia 32 HP:0012119

Drugs & Therapeutics for Methemoglobinemia and Ambiguous Genitalia

Search Clinical Trials , NIH Clinical Center for Methemoglobinemia and Ambiguous Genitalia

Genetic Tests for Methemoglobinemia and Ambiguous Genitalia

Genetic tests related to Methemoglobinemia and Ambiguous Genitalia:

# Genetic test Affiliating Genes
1 Methemoglobinemia Type 4 29 CYB5A

Anatomical Context for Methemoglobinemia and Ambiguous Genitalia

Publications for Methemoglobinemia and Ambiguous Genitalia

Variations for Methemoglobinemia and Ambiguous Genitalia

ClinVar genetic disease variations for Methemoglobinemia and Ambiguous Genitalia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CYB5A NM_001914.3(CYB5A): c.130-2A> G single nucleotide variant Pathogenic rs794728010 GRCh38 Chromosome 18, 74263479: 74263479
2 CYB5A NM_001914.3(CYB5A): c.130-2A> G single nucleotide variant Pathogenic rs794728010 GRCh37 Chromosome 18, 71930714: 71930714
3 CYB5A NM_001914.3(CYB5A): c.81G> A (p.Trp27Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 74291795: 74291795
4 CYB5A NM_001914.3(CYB5A): c.81G> A (p.Trp27Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 71959030: 71959030
5 CYB5A NM_001914.3(CYB5A): c.131A> T (p.His44Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 74263476: 74263476
6 CYB5A NM_001914.3(CYB5A): c.131A> T (p.His44Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 71930711: 71930711

Expression for Methemoglobinemia and Ambiguous Genitalia

Search GEO for disease gene expression data for Methemoglobinemia and Ambiguous Genitalia.

Pathways for Methemoglobinemia and Ambiguous Genitalia

GO Terms for Methemoglobinemia and Ambiguous Genitalia

Sources for Methemoglobinemia and Ambiguous Genitalia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....