MCID: HML053
MIFTS: 7

Hemolytic Anemia, Congenital, X-Linked

Categories: Genetic diseases

Aliases & Classifications for Hemolytic Anemia, Congenital, X-Linked

MalaCards integrated aliases for Hemolytic Anemia, Congenital, X-Linked:

Name: Hemolytic Anemia, Congenital, X-Linked 57 6

Characteristics:

OMIM:

57
Miscellaneous:
congenital onset
one japanese man has been reported (last curated august 2018)

Inheritance:
x-linked recessive


HPO:

32
hemolytic anemia, congenital, x-linked:
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 301015
SNOMED-CT via HPO 69 61261009

Summaries for Hemolytic Anemia, Congenital, X-Linked

MalaCards based summary : Hemolytic Anemia, Congenital, X-Linked An important gene associated with Hemolytic Anemia, Congenital, X-Linked is ATP11C (ATPase Phospholipid Transporting 11C). Related phenotype is hemolytic anemia.

Description from OMIM: 301015

Related Diseases for Hemolytic Anemia, Congenital, X-Linked

Symptoms & Phenotypes for Hemolytic Anemia, Congenital, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
jaundice, mild

Hematology:
hemolytic anemia, mild
normal red cell morphology


Clinical features from OMIM:

301015

Human phenotypes related to Hemolytic Anemia, Congenital, X-Linked:

32
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 32 HP:0001878

Drugs & Therapeutics for Hemolytic Anemia, Congenital, X-Linked

Search Clinical Trials , NIH Clinical Center for Hemolytic Anemia, Congenital, X-Linked

Genetic Tests for Hemolytic Anemia, Congenital, X-Linked

Anatomical Context for Hemolytic Anemia, Congenital, X-Linked

Publications for Hemolytic Anemia, Congenital, X-Linked

Variations for Hemolytic Anemia, Congenital, X-Linked

ClinVar genetic disease variations for Hemolytic Anemia, Congenital, X-Linked:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP11C NM_001010986.2(ATP11C): c.1253C> A (p.Thr418Asn) single nucleotide variant Pathogenic GRCh38 Chromosome X, 139789451: 139789451
2 ATP11C NM_001010986.2(ATP11C): c.1253C> A (p.Thr418Asn) single nucleotide variant Pathogenic GRCh37 Chromosome X, 138871610: 138871610

Expression for Hemolytic Anemia, Congenital, X-Linked

Search GEO for disease gene expression data for Hemolytic Anemia, Congenital, X-Linked.

Pathways for Hemolytic Anemia, Congenital, X-Linked

GO Terms for Hemolytic Anemia, Congenital, X-Linked

Sources for Hemolytic Anemia, Congenital, X-Linked

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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