LMPHM8
MCID: LYM155
MIFTS: 21

Lymphatic Malformation 8 (LMPHM8)

Categories: Cancer diseases, Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Lymphatic Malformation 8

MalaCards integrated aliases for Lymphatic Malformation 8:

Name: Lymphatic Malformation 8 57 73 5 38
Lmphm8 57 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
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)


Classifications:



External Ids:

OMIM® 57 618773
OMIM Phenotypic Series 57 PS153100
MeSH 43 D015160

Summaries for Lymphatic Malformation 8

UniProtKB/Swiss-Prot: 73 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, lung and respiratory system-lung, and related phenotypes are polyhydramnios and nonimmune hydrops fetalis

OMIM®: 57 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) (Updated 08-Dec-2022)

Related Diseases for Lymphatic Malformation 8

Symptoms & Phenotypes for Lymphatic Malformation 8

Human phenotypes related to Lymphatic Malformation 8:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polyhydramnios 30 Very rare (1%) HP:0001561
2 nonimmune hydrops fetalis 30 Very rare (1%) HP:0001790
3 pleural effusion 30 HP:0002202
4 pericardial effusion 30 HP:0001698
5 generalized edema 30 HP:0007430

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lymphatic Malformation 8

Search Clinical Trials, NIH Clinical Center for Lymphatic Malformation 8

Genetic Tests for Lymphatic Malformation 8

Anatomical Context for Lymphatic Malformation 8

Organs/tissues related to Lymphatic Malformation 8:

MalaCards : Placenta, Lung
ODiseA: Respiratory System-Lung, Respiratory System

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. 57 5
30115739 2018
2
Differential risk for neonatal surgical airway intervention in prenatally diagnosed neck masses. 62
19159721 2009

Variations for Lymphatic Malformation 8

ClinVar genetic disease variations for Lymphatic Malformation 8:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CALCRL-AS1, CALCRL NM_005795.6(CALCRL):c.611TAG[1] (p.Val205del) MICROSAT Pathogenic
812514 rs1574226259 GRCh37: 2:188228114-188228116
GRCh38: 2:187363387-187363389
2 CALCRL-AS1, CALCRL NM_005795.6(CALCRL):c.1128+34A>G SNV Benign
1192647 GRCh37: 2:188216807-188216807
GRCh38: 2:187352080-187352080
3 CALCRL-AS1, CALCRL NM_005795.6(CALCRL):c.782-58T>C SNV Benign
1192648 GRCh37: 2:188224057-188224057
GRCh38: 2:187359330-187359330

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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