AHMIO2
MCID: ANM027
MIFTS: 24

Anemia, Hypochromic Microcytic, with Iron Overload 2 (AHMIO2)

Categories: Blood diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Anemia, Hypochromic Microcytic, with Iron Overload 2

MalaCards integrated aliases for Anemia, Hypochromic Microcytic, with Iron Overload 2:

Name: Anemia, Hypochromic Microcytic, with Iron Overload 2 58 76 13 74
Hypochromic Microcytic Anemia with Iron Overload 2 30 6 41
Ahmio2 58 76
Severe Congenital Hypochromic Anemia with Ringed Sideroblasts 60
Severe Congenital Hypochromic Sideroblastic Anemia 60

Characteristics:

Orphanet epidemiological data:

60
severe congenital hypochromic anemia with ringed sideroblasts
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
patients have severe anemia requiring regular transfusions for normal activity
one family reported (last curated may 2013)


HPO:

33
anemia, hypochromic microcytic, with iron overload 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Anemia, Hypochromic Microcytic, with Iron Overload 2

UniProtKB/Swiss-Prot : 76 Anemia, hypochromic microcytic, with iron overload 2: A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size, severe anemia, erythropoietic hyperplasia of bone marrow, massive hepatic iron deposition, and hepatosplenomegaly.

MalaCards based summary : Anemia, Hypochromic Microcytic, with Iron Overload 2, is also known as hypochromic microcytic anemia with iron overload 2. An important gene associated with Anemia, Hypochromic Microcytic, with Iron Overload 2 is STEAP3 (STEAP3 Metalloreductase). Affiliated tissues include bone, bone marrow and pituitary, and related phenotypes are anemia and increased serum ferritin

Description from OMIM: 615234

Related Diseases for Anemia, Hypochromic Microcytic, with Iron Overload 2

Diseases in the Hypochromic Microcytic Anemia with Iron Overload family:

Anemia, Hypochromic Microcytic, with Iron Overload 1 Anemia, Hypochromic Microcytic, with Iron Overload 2

Symptoms & Phenotypes for Anemia, Hypochromic Microcytic, with Iron Overload 2

Human phenotypes related to Anemia, Hypochromic Microcytic, with Iron Overload 2:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001903
2 increased serum ferritin 60 33 hallmark (90%) Very frequent (99-80%) HP:0003281
3 reticulocytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001896
4 decreased transferrin saturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0012464
5 fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0012378
6 pallor 60 33 frequent (33%) Frequent (79-30%) HP:0000980
7 hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000135
8 azoospermia 60 33 frequent (33%) Frequent (79-30%) HP:0000027
9 abnormality of the hypothalamus-pituitary axis 60 33 frequent (33%) Frequent (79-30%) HP:0000864
10 increased serum iron 60 33 frequent (33%) Frequent (79-30%) HP:0003452
11 elevated hepatic iron concentration 60 33 frequent (33%) Frequent (79-30%) HP:0012465
12 anisopoikilocytosis 60 33 frequent (33%) Frequent (79-30%) HP:0004823
13 decreased mean corpuscular volume 60 33 frequent (33%) Frequent (79-30%) HP:0025066
14 elevated hepatic transaminase 33 frequent (33%) HP:0002910
15 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
16 growth delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001510
17 cafe-au-lait spot 60 33 occasional (7.5%) Occasional (29-5%) HP:0000957
18 adrenal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000846
19 hepatosplenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001433
20 dysplastic erythropoesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0012134
21 splenomegaly 33 HP:0001744
22 hepatomegaly 33 HP:0002240
23 elevated hepatic transaminases 60 Frequent (79-30%)
24 poikilocytosis 33 HP:0004447

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Genitourinary External Genitalia Male:
hypogonadism

Hematology:
microcytosis
hypochromia
increased transferrin saturation
elevated serum ferritin
anemia, severe
more
Head And Neck Eyes:
marked pallor of mucous membranes

Genitourinary Internal Genitalia Female:
gonadal atrophy

Endocrine Features:
dysfunction of hypothalamo-pituitary-gonadal axis
adrenal failure (in some patients)
thyroid failure (in some patients)

Abdomen Liver:
hepatomegaly

Genitourinary Internal Genitalia Male:
azoospermia

Growth:
growth retardation (in some patients)

Head And Neck Mouth:
marked pallor of mucous membranes

Skin Nails Hair Skin:
marked skin pallor
cafe au lait spots (in some patients)

Clinical features from OMIM:

615234

Drugs & Therapeutics for Anemia, Hypochromic Microcytic, with Iron Overload 2

Search Clinical Trials , NIH Clinical Center for Anemia, Hypochromic Microcytic, with Iron Overload 2

Genetic Tests for Anemia, Hypochromic Microcytic, with Iron Overload 2

Genetic tests related to Anemia, Hypochromic Microcytic, with Iron Overload 2:

# Genetic test Affiliating Genes
1 Hypochromic Microcytic Anemia with Iron Overload 2 30 STEAP3

Anatomical Context for Anemia, Hypochromic Microcytic, with Iron Overload 2

MalaCards organs/tissues related to Anemia, Hypochromic Microcytic, with Iron Overload 2:

42
Bone, Bone Marrow, Pituitary, Skin, Thyroid, Hypothalamus

Publications for Anemia, Hypochromic Microcytic, with Iron Overload 2

Variations for Anemia, Hypochromic Microcytic, with Iron Overload 2

ClinVar genetic disease variations for Anemia, Hypochromic Microcytic, with Iron Overload 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 STEAP3 NM_018234.2(STEAP3): c.300C> A (p.Cys100Ter) single nucleotide variant Pathogenic rs587776963 GRCh37 Chromosome 2, 120003372: 120003372
2 STEAP3 NM_018234.2(STEAP3): c.300C> A (p.Cys100Ter) single nucleotide variant Pathogenic rs587776963 GRCh38 Chromosome 2, 119245796: 119245796

Expression for Anemia, Hypochromic Microcytic, with Iron Overload 2

Search GEO for disease gene expression data for Anemia, Hypochromic Microcytic, with Iron Overload 2.

Pathways for Anemia, Hypochromic Microcytic, with Iron Overload 2

GO Terms for Anemia, Hypochromic Microcytic, with Iron Overload 2

Sources for Anemia, Hypochromic Microcytic, with Iron Overload 2

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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46 MESH via Orphanet
47 MGI
50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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