AHMIO2
MCID: ANM027
MIFTS: 23

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 56 73 13 71
Hypochromic Microcytic Anemia with Iron Overload 2 29 6 39
Ahmio2 56 73
Severe Congenital Hypochromic Anemia with Ringed Sideroblasts 58
Severe Congenital Hypochromic Sideroblastic Anemia 58

Characteristics:

Orphanet epidemiological data:

58
severe congenital hypochromic anemia with ringed sideroblasts
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
anemia, hypochromic microcytic, with iron overload 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Anemia, Hypochromic Microcytic, with Iron Overload 2

UniProtKB/Swiss-Prot : 73 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 marrow, bone and pituitary, and related phenotypes are anemia and increased serum ferritin

More information from OMIM: 615234 PS206100

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:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
2 increased serum ferritin 58 31 hallmark (90%) Very frequent (99-80%) HP:0003281
3 decreased transferrin saturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0012464
4 reticulocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001896
5 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
6 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
7 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
8 azoospermia 58 31 frequent (33%) Frequent (79-30%) HP:0000027
9 abnormality of the hypothalamus-pituitary axis 58 31 frequent (33%) Frequent (79-30%) HP:0000864
10 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
11 increased serum iron 58 31 frequent (33%) Frequent (79-30%) HP:0003452
12 elevated hepatic iron concentration 58 31 frequent (33%) Frequent (79-30%) HP:0012465
13 anisopoikilocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0004823
14 decreased mean corpuscular volume 58 31 frequent (33%) Frequent (79-30%) HP:0025066
15 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
16 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
17 cafe-au-lait spot 58 31 occasional (7.5%) Occasional (29-5%) HP:0000957
18 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
19 adrenal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000846
20 dysplastic erythropoesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012134
21 splenomegaly 31 HP:0001744
22 hepatomegaly 31 HP:0002240
23 poikilocytosis 31 HP:0004447
24 hypochromia 31 HP:0032231

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Genitourinary Internal Genitalia Male:
azoospermia

Hematology:
hypochromia
microcytosis
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 External Genitalia Male:
hypogonadism

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 29 STEAP3

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

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

40
Bone Marrow, Bone, Pituitary, Thyroid, Skin, Hypothalamus

Publications for Anemia, Hypochromic Microcytic, with Iron Overload 2

Articles related to Anemia, Hypochromic Microcytic, with Iron Overload 2:

# Title Authors PMID Year
1
A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene. 6 56
22031863 2011

Variations for Anemia, Hypochromic Microcytic, with Iron Overload 2

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STEAP3 NM_182915.3(STEAP3):c.330C>A (p.Cys110Ter)SNV Pathogenic 50372 rs587776963 2:120003372-120003372 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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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