Severe congenital hypochromic anemia with ringed sideroblasts

General Information (adopted from Orphanet):

Synonyms, Signs: AHMIO2
Severe congenital hypochromic sideroblastic anemia
Number of Symptoms 24
OrphanetNr: 300298
OMIM Id: 615234
ICD-10: D64.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Constitutional anemia due to iron metabolism disorder
 -Rare genetic disease
 -Rare hematologic disease
Constitutional sideroblastic anemia
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000027) Azoospermia 28 / 7739
2
 (HPO:0000135) Hypogonadism 89 / 7739
3
 (HPO:0001744) Splenomegaly 337 / 7739
4
 (HPO:0002240) Hepatomegaly 467 / 7739
5
 (HPO:0001510) Growth delay rare [HPO:skoehler] 295 / 7739
6
 (HPO:0007565) Multiple cafe-au-lait spots 11 / 7739
7
 (HPO:0007429) Few cafe-au-lait spots 7 / 7739
8
 (HPO:0000957) Cafe-au-lait spot rare [HPO:skoehler] 84 / 7739
9
 (HPO:0001903) Anemia 289 / 7739
10
 (HPO:0003281) Increased serum ferritin 32 / 7739
11
 (MedDRA:10050771) Transferrin saturation increased 3 / 7739
12
 (OMIM) Low serum transferrin 1 / 7739
13
 (MedDRA:10027540) Microcytosis 5 / 7739
14
 (OMIM) Gonadal atrophy 1 / 7739
15
 (OMIM) Thyroid failure (in some patients) 1 / 7739
16
 (OMIM) Erythropoietic hyperplasia of bone marrow 1 / 7739
17
 (OMIM) Marked skin pallor 1 / 7739
18
 (OMIM) Aniso-poikilocytosis on blood smear 1 / 7739
19
 (OMIM) Anemia, severe 1 / 7739
20
 (OMIM) Hypochromia 6 / 7739
21
 (OMIM) Marked pallor of mucous membranes 1 / 7739
22
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
 (OMIM) Adrenal failure 2 / 7739
24
 (OMIM) Dysfunction of hypothalamo-pituitary-gonadal axis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Grandchamp et al. (2011) reported 3 sibs, born of nonconsanguineous Pakistani parents, who had transfusion-dependent hypochromic microcytic anemia with iron overload. The proband was a 24-year-old man who had been pale since infancy and was documented to be ...
Molecular genetics OMIM In 3 sibs with hypochromic microcytic anemia and iron overload, born of nonconsanguineous Pakistani parents, Grandchamp et al. (2011) analyzed 7 candidate genes and identified heterozygosity for a nonsense mutation in the STEAP3 gene (C100X; 609671.0001) that was ...