MCID: ANM027
MIFTS: 24

Anemia, Hypochromic Microcytic, with Iron Overload 2

Categories: Genetic diseases, Blood diseases, Rare diseases, Metabolic diseases, Liver 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 57 75 13 73
Hypochromic Microcytic Anemia with Iron Overload 2 29 6 40
Ahmio2 57 75
Severe Congenital Hypochromic Anemia with Ringed Sideroblasts 59
Severe Congenital Hypochromic Sideroblastic Anemia 59

Characteristics:

Orphanet epidemiological data:

59
severe congenital hypochromic anemia with ringed sideroblasts
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
anemia, hypochromic microcytic, with iron overload 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Anemia, Hypochromic Microcytic, with Iron Overload 2

UniProtKB/Swiss-Prot : 75 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 hypothyroidism and fatigue

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

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
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

GenitourinaryInternal GenitaliaMale:
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

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

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
2 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
3 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
4 pallor 59 32 frequent (33%) Frequent (79-30%) HP:0000980
5 growth delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001510
6 elevated hepatic transaminases 59 32 frequent (33%) Frequent (79-30%) HP:0002910
7 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
8 azoospermia 59 32 frequent (33%) Frequent (79-30%) HP:0000027
9 abnormality of the hypothalamus-pituitary axis 59 32 frequent (33%) Frequent (79-30%) HP:0000864
10 increased serum ferritin 59 32 hallmark (90%) Very frequent (99-80%) HP:0003281
11 increased serum iron 59 32 frequent (33%) Frequent (79-30%) HP:0003452
12 cafe-au-lait spot 59 32 occasional (7.5%) Occasional (29-5%) HP:0000957
13 adrenal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000846
14 hepatosplenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001433
15 elevated hepatic iron concentration 59 32 frequent (33%) Frequent (79-30%) HP:0012465
16 reticulocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001896
17 decreased transferrin saturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0012464
18 anisopoikilocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0004823
19 decreased mean corpuscular volume 59 32 frequent (33%) Frequent (79-30%) HP:0025066
20 dysplastic erythropoesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012134
21 splenomegaly 32 HP:0001744
22 hepatomegaly 32 HP:0002240

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:

41
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
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
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