MCID: HML049
MIFTS: 17

Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities

Categories: Blood diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital...

MalaCards integrated aliases for Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities:

Name: Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 56
Hemolytic Anemia Lethal Congenital Nonspherocytic with Genital and Other Abnormalities 52 29
Lethal Hemolytic Anemia-Genital Anomalies Syndrome 58
Water-West Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
lethal hemolytic anemia-genital anomalies syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
?autosomal dominant

Miscellaneous:
onset in utero
death shortly after birth
based on report of 2 brothers


HPO:

31
hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities:
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis
Rare haematological diseases


Summaries for Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital...

MalaCards based summary : Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities, is also known as hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities. Affiliated tissues include lung, and related phenotypes are respiratory insufficiency and anemia

More information from OMIM: 600461

Related Diseases for Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital...

Symptoms & Phenotypes for Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital...

Human phenotypes related to Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
2 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
3 oligohydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001562
4 sandal gap 58 31 hallmark (90%) Very frequent (99-80%) HP:0001852
5 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
6 abnormality of the ureter 58 31 hallmark (90%) Very frequent (99-80%) HP:0000069
7 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
8 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
9 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
10 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
11 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
12 ascites 58 31 frequent (33%) Frequent (79-30%) HP:0001541
13 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
14 renal hypoplasia/aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008678
15 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
16 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
17 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
18 aplasia/hypoplasia of the lungs 58 31 frequent (33%) Frequent (79-30%) HP:0006703
19 abnormality of coagulation 58 31 frequent (33%) Frequent (79-30%) HP:0001928
20 hemolytic anemia 31 HP:0001878
21 abnormality of the skull 58 Very frequent (99-80%)
22 micropenis 31 HP:0000054
23 flat occiput 31 HP:0005469
24 abnormality of earlobe 31 HP:0000363
25 hepatosplenomegaly 31 HP:0001433
26 deep plantar creases 31 HP:0001869

Symptoms via clinical synopsis from OMIM:

56
Abdomen External Features:
ascites

Head And Neck Head:
flat occiput

Abdomen Spleen:
hepatosplenomegaly

Head And Neck Ears:
dimpled earlobes

Hematology:
hemolytic anemia, nonspherocytic

Genitourinary External Genitalia Male:
hypospadias
small penis

Abdomen Liver:
hepatosplenomegaly

Skeletal Hands:
deep plantar creases

Skeletal Feet:
increased space between first and second toes

Clinical features from OMIM:

600461

Drugs & Therapeutics for Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital...

Search Clinical Trials , NIH Clinical Center for Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities

Genetic Tests for Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital...

Genetic tests related to Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities:

# Genetic test Affiliating Genes
1 Hemolytic Anemia Lethal Congenital Nonspherocytic with Genital and Other Abnormalities 29

Anatomical Context for Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital...

MalaCards organs/tissues related to Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities:

40
Lung

Publications for Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital...

Articles related to Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities:

# Title Authors PMID Year
1
Lethal congenital non-spherocytic, non-immune hemolytic anemia with genital and other anomalies in two brothers. 56
7726230 1995

Variations for Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital...

Expression for Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital...

Search GEO for disease gene expression data for Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities.

Pathways for Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital...

GO Terms for Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital...

Sources for Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital...

3 CDC
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10 dbSNP
11 DGIdb
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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