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Autosomal dominant methemoglobinemia
3 associated genes
75 connected diseases
No signs/symptoms info
Disease Type of connection
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Hb Bart's hydrops fetalis
Hemoglobin H disease
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Hemoglobin Lepore - beta-thalassemia
Beta-thalassemia intermedia
Beta-thalassemia major
Dominant beta-thalassemia
Heinz body anemia
Hemoglobin C - beta-thalassemia
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E - beta-thalassemia
Hemoglobin E disease
Sickle cell - beta-thalassemia disease
Sickle cell - hemoglobin C disease
Sickle cell - hemoglobin D disease
Sickle cell - hemoglobin E disease
Sickle cell anemia
Cowden syndrome
Proteus syndrome
Hemoglobinopathy Toms River
Apolipoprotein A-I deficiency
Familial renal amyloidosis due to Apolipoprotein AI variant
Leber congenital amaurosis
Primary systemic amyloidosis
Senior-Loken syndrome
CLN10 disease
Angelman syndrome
Autoimmune lymphoproliferative syndrome
Autosomal agammaglobulinemia
Autosomal dominant distal renal tubular acidosis
Autosomal recessive systemic lupus erythematosus
Bannayan-Riley-Ruvalcaba syndrome
Common variable immunodeficiency
Congenital analbuminemia
Distal renal tubular acidosis with anemia
Familial partial lipodystrophy due to AKT2 mutations
Fibronectin glomerulopathy
Giant cell glioblastoma
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hereditary breast and ovarian cancer syndrome
Hereditary spherocytosis
Huntington disease
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Isolated focal cortical dysplasia type IIb
Juvenile Huntington disease
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Pediatric systemic lupus erythematosus
Pontocerebellar hypoplasia type 1
Proteus-like syndrome
Richieri Costa-Pereira syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Southeast Asian ovalocytosis
Squamous cell carcinoma of head and neck
Thrombocytopenia - absent radius
Tuberous sclerosis
Familial isolated dilated cardiomyopathy
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Zonular cataract
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Charcot-Marie-Tooth disease type 2H
Charcot-Marie-Tooth disease type 4A
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
- Hemoglobin M disease
- Hereditary methemoglobinemia due to hemoglobin mutation
- M hemoglobinopathy

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
HBA1 P69905141800
HBA2 P69905141850
HBB P68871141900
No signs/symptoms info available.