LMPHM8
MCID: LYM155
MIFTS: 19

Lymphatic Malformation 8 (LMPHM8)

Categories: Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Lymphatic Malformation 8

MalaCards integrated aliases for Lymphatic Malformation 8:

Name: Lymphatic Malformation 8 56 73 29 6
Lmphm8 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in utero
carrier females have reduced fertility and recurrent miscarriages
one consanguineous arab family has been reported (last curated february 2020)


HPO:

31
lymphatic malformation 8:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 618773
OMIM Phenotypic Series 56 PS153100
MeSH 43 D015160
MedGen 41 CN263266

Summaries for Lymphatic Malformation 8

UniProtKB/Swiss-Prot : 73 Lymphatic malformation 8: A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Adult patients with lymphedema may suffer from recurrent local infections. Impaired lymphatic drainage in the fetus can develop into hydrops fetalis, a severe condition characterized by excessive fluid accumulation in more than two fetal extra-vascular compartments and body cavities, placental enlargement and edema, pericardial or pleural effusion, or ascites. LMPHM8 is an autosomal recessive form characterized by onset in utero and fetal death due to non-immune hydrops fetalis.

MalaCards based summary : Lymphatic Malformation 8, is also known as lmphm8. An important gene associated with Lymphatic Malformation 8 is CALCRL (Calcitonin Receptor Like Receptor). Affiliated tissues include placenta, and related phenotypes are polyhydramnios and nonimmune hydrops fetalis

OMIM : 56 Lymphatic malformation-8 (LMPHM8) is an autosomal recessive disorder in which affected fetuses die in utero due to nonimmune hydrops fetalis (NIHF). The fetus and placenta are edematous with interstitial accumulation of fluid and abnormally shaped vessels. The disorder results from impaired lymphangiogenesis. Carrier females have reduced fertility and recurrent miscarriages likely due to NIHF (summary by Mackie et al., 2018). For a discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100). (618773)

Related Diseases for Lymphatic Malformation 8

Symptoms & Phenotypes for Lymphatic Malformation 8

Human phenotypes related to Lymphatic Malformation 8:

31
# Description HPO Frequency HPO Source Accession
1 polyhydramnios 31 very rare (1%) HP:0001561
2 nonimmune hydrops fetalis 31 very rare (1%) HP:0001790
3 pleural effusion 31 HP:0002202
4 pericardial effusion 31 HP:0001698
5 generalized edema 31 HP:0007430

Symptoms via clinical synopsis from OMIM:

56
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Respiratory Lung:
pleural effusion (affected fetus)
pulmonary edema (affected fetus)

Prenatal Manifestations Placenta And Umbilical Cord:
edematous chorionic villi

Cardiovascular Heart:
pericardial effusion (affected fetus)

Muscle Soft Tissue:
edema (affected fetus)

Laboratory Abnormalities:
abnormal lymphangiogenesis

Clinical features from OMIM:

618773

Drugs & Therapeutics for Lymphatic Malformation 8

Search Clinical Trials , NIH Clinical Center for Lymphatic Malformation 8

Genetic Tests for Lymphatic Malformation 8

Genetic tests related to Lymphatic Malformation 8:

# Genetic test Affiliating Genes
1 Lymphatic Malformation 8 29

Anatomical Context for Lymphatic Malformation 8

MalaCards organs/tissues related to Lymphatic Malformation 8:

40
Placenta

Publications for Lymphatic Malformation 8

Articles related to Lymphatic Malformation 8:

# Title Authors PMID Year
1
hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia. 6 56
30115739 2018
2
Differential risk for neonatal surgical airway intervention in prenatally diagnosed neck masses. 61
19159721 2009

Variations for Lymphatic Malformation 8

ClinVar genetic disease variations for Lymphatic Malformation 8:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CALCRL NM_005795.6(CALCRL):c.611_613TAG[1] (p.Val205del)short repeat Pathogenic 812514 2:188228114-188228116 2:187363387-187363389

Expression for Lymphatic Malformation 8

Search GEO for disease gene expression data for Lymphatic Malformation 8.

Pathways for Lymphatic Malformation 8

GO Terms for Lymphatic Malformation 8

Sources for Lymphatic Malformation 8

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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