MCID: HML049
MIFTS: 16

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

Categories: Blood diseases, Fetal diseases, Rare diseases, Reproductive 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 57
Lethal Hemolytic Anemia-Genital Anomalies Syndrome 58 29
Hemolytic Anemia Lethal Congenital Nonspherocytic with Genital and Other Abnormalities 20
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®:

57 (Updated 05-Apr-2021)
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 lethal hemolytic anemia-genital anomalies syndrome. 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 27)
# 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 sandal gap 58 31 hallmark (90%) Very frequent (99-80%) HP:0001852
4 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
5 abnormality of the ureter 58 31 hallmark (90%) Very frequent (99-80%) HP:0000069
6 oligohydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001562
7 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
8 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
9 ascites 58 31 frequent (33%) Frequent (79-30%) HP:0001541
10 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
11 renal hypoplasia/aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008678
12 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
13 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
14 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
15 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
16 aplasia/hypoplasia of the lungs 58 31 frequent (33%) Frequent (79-30%) HP:0006703
17 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
18 abnormality of coagulation 58 31 frequent (33%) Frequent (79-30%) HP:0001928
19 hypotonia 31 frequent (33%) HP:0001252
20 muscular hypotonia 58 Frequent (79-30%)
21 abnormal skull morphology 58 Very frequent (99-80%)
22 hemolytic anemia 31 HP:0001878
23 micropenis 31 HP:0000054
24 flat occiput 31 HP:0005469
25 abnormality of earlobe 31 HP:0000363
26 deep plantar creases 31 HP:0001869
27 hepatosplenomegaly 31 HP:0001433

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen External Features:
ascites

Genitourinary External Genitalia Male:
hypospadias
small penis

Abdomen Liver:
hepatosplenomegaly

Head And Neck Ears:
dimpled earlobes

Hematology:
hemolytic anemia, nonspherocytic

Head And Neck Head:
flat occiput

Skeletal Hands:
deep plantar creases

Abdomen Spleen:
hepatosplenomegaly

Skeletal Feet:
increased space between first and second toes

Clinical features from OMIM®:

600461 (Updated 05-Apr-2021)

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 Lethal Hemolytic Anemia-Genital Anomalies Syndrome 29

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

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. 57
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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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