Lymphatic Malformation 8 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Sources

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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Cancer diseases
Anatomical: Immune diseases Cardiovascular diseases Reproductive diseases Skin diseases Neuronal diseases Gastrointestinal diseases Respiratory diseases Oral diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618773

OMIM Phenotypic Series ⁵⁷ PS153100

MeSH ⁴³ D015160

MedGen ⁴⁰ C5231496 CN263266

SNOMED-CT via HPO ⁶⁹ 206538000 271808008 276509008 more

Sources

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)

Sources

Related Diseases for Lymphatic Malformation 8

Diseases in the Rare Lymphatic Malformation family:

Lymphatic Malformation 1	Lymphatic Malformation 5
Lymphatic Malformation 2	Lymphatic Malformation 3
Lymphatic Malformation 4	Lymphatic Malformation 6
Lymphatic Malformation 7	Lymphatic Malformation 8
Lymphatic Malformation 9	Lymphatic Malformation 10
Lymphatic Malformation 11	Lymphatic Malformation 12

Sources

Symptoms & Phenotypes for Lymphatic Malformation 8

Human phenotypes related to Lymphatic Malformation 8:

³⁰

#	Description	HPO 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)

Sources

Drugs & Therapeutics for Lymphatic Malformation 8

Search Clinical Trials, NIH Clinical Center for Lymphatic Malformation 8

Sources

Genetic Tests for Lymphatic Malformation 8

Sources

Anatomical Context for Lymphatic Malformation 8

Organs/tissues related to Lymphatic Malformation 8:

MalaCards : Placenta, Lung

ODiseA: Respiratory System-Lung, Respiratory System

Sources

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	Mackie DI...Caron KM	30115739	2018
2	Differential risk for neonatal surgical airway intervention in prenatally diagnosed neck masses. ⁶²	Steigman SA...Fauza DO	19159721	2009

Sources

Genes for Lymphatic Malformation 8

Genes related to Lymphatic Malformation 8 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CALCRL	Calcitonin Receptor Like Receptor	Protein Coding	957.77	Molecular basis known ⁵⁷ Pathogenic ⁵ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders (show sections)	30115739
2	CALCRL-AS1	CALCRL And TFPI Antisense RNA 1	RNA Gene	400	Pathogenic ⁵	30115739

Sources

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