MCID: MYL064
MIFTS: 22

Myeloproliferative/lymphoproliferative Neoplasms, Familial

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Cancer diseases

Aliases & Classifications for Myeloproliferative/lymphoproliferative Neoplasms, Familial

MalaCards integrated aliases for Myeloproliferative/lymphoproliferative Neoplasms, Familial:

Name: Myeloproliferative/lymphoproliferative Neoplasms, Familial 57 75
Myeloproliferative/lymphoproliferative Neoplasms, Familial , Susceptibility to 57 29 6
Mplpf 57 75
Ddx41-Related Hematologic Malignancy Predisposition Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
incomplete penetrance
favorable response to lenalidomide treatment


HPO:

32
myeloproliferative/lymphoproliferative neoplasms, familial:
Onset and clinical course adult onset incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Myeloproliferative/lymphoproliferative Neoplasms, Familial

OMIM : 57 Familial myeloproliferative/lymphoproliferative neoplasms is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line. Most patients present with myelodysplastic syndrome (MDS; 614286) and/or acute myeloid leukemia (AML; 601626). Rare lymphoid malignancies, including lymphoma, can also occur. Some mutation carriers, even if unaffected by a hematologic malignancy, may have evidence of immune dysregulation disorders, including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance (summary by Lewinsohn et al., 2016). Patients may show a favorable response to treatment with lenalidomide (summary by Polprasert et al., 2015). (616871)

MalaCards based summary : Myeloproliferative/lymphoproliferative Neoplasms, Familial, is also known as myeloproliferative/lymphoproliferative neoplasms, familial , susceptibility to. An important gene associated with Myeloproliferative/lymphoproliferative Neoplasms, Familial is DDX41 (DEAD-Box Helicase 41). Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are eczema and leukopenia

UniProtKB/Swiss-Prot : 75 Myeloproliferative/lymphoproliferative neoplasms, familial: A familial cancer predisposition syndrome with incomplete penetrance, characterized by increased susceptibility to myeloid neoplasms and rarely to lymphoid malignancies. MPLPF inheritance is autosomal dominant.

Related Diseases for Myeloproliferative/lymphoproliferative Neoplasms, Familial

Symptoms & Phenotypes for Myeloproliferative/lymphoproliferative Neoplasms, Familial

Symptoms via clinical synopsis from OMIM:

57
Hematology:
refractory anemia
myelodysplastic syndrome
cytopenias
bone marrow shows erythroid dysplasia

Skeletal:
juvenile arthritis (in rare mutation carriers unaffected by a hematologic malignancy)

Immunology:
sarcoidosis (in rare mutation carriers unaffected by hematologic malignancy)
systemic lupus erythematosus (in rare mutation carriers unaffected by a hematologic malignancy)
granulomatous disease (in rare mutation carriers unaffected by a hematologic malignancy)
immune disorder (in rare mutations carriers unaffected by a hematologic malignancy)

Respiratory:
asthma (in rare mutation carriers unaffected by a hematologic malignancy)

Skin Nails Hair Skin:
eczema (in rare mutation carriers unaffected by a hematologic malignancy)

Neoplasia:
myelogeneous leukemia, acute
myelogeneous leukemia, chronic
lymphoma (1 family)


Clinical features from OMIM:

616871

Human phenotypes related to Myeloproliferative/lymphoproliferative Neoplasms, Familial:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 eczema 32 HP:0000964
2 leukopenia 32 HP:0001882
3 asthma 32 HP:0002099
4 lymphoma 32 HP:0002665
5 systemic lupus erythematosus 32 HP:0002725
6 myelodysplasia 32 HP:0002863
7 acute myeloid leukemia 32 HP:0004808
8 refractory anemia 32 HP:0005505
9 bone marrow hypocellularity 32 HP:0005528
10 monocytosis 32 HP:0012311

Drugs & Therapeutics for Myeloproliferative/lymphoproliferative Neoplasms, Familial

Search Clinical Trials , NIH Clinical Center for Myeloproliferative/lymphoproliferative Neoplasms, Familial

Genetic Tests for Myeloproliferative/lymphoproliferative Neoplasms, Familial

Genetic tests related to Myeloproliferative/lymphoproliferative Neoplasms, Familial:

# Genetic test Affiliating Genes
1 Myeloproliferative/lymphoproliferative Neoplasms, Familial (multiple Types), Susceptibility to 29 DDX41

Anatomical Context for Myeloproliferative/lymphoproliferative Neoplasms, Familial

MalaCards organs/tissues related to Myeloproliferative/lymphoproliferative Neoplasms, Familial:

41
Myeloid, Bone, Bone Marrow

Publications for Myeloproliferative/lymphoproliferative Neoplasms, Familial

Variations for Myeloproliferative/lymphoproliferative Neoplasms, Familial

UniProtKB/Swiss-Prot genetic disease variations for Myeloproliferative/lymphoproliferative Neoplasms, Familial:

75
# Symbol AA change Variation ID SNP ID
1 DDX41 p.Arg525His VAR_076362 rs869312828

ClinVar genetic disease variations for Myeloproliferative/lymphoproliferative Neoplasms, Familial:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 DDX41 NM_016222.3(DDX41): c.415_418dupGATG (p.Asp140Glyfs) duplication Pathogenic rs762890562 GRCh37 Chromosome 5, 176942946: 176942949
2 DDX41 NM_016222.3(DDX41): c.415_418dupGATG (p.Asp140Glyfs) duplication Pathogenic rs762890562 GRCh38 Chromosome 5, 177515945: 177515948
3 DDX41 NM_016222.3(DDX41): c.1574G> A (p.Arg525His) single nucleotide variant risk factor rs869312828 GRCh38 Chromosome 5, 177512369: 177512369
4 DDX41 NM_016222.3(DDX41): c.1574G> A (p.Arg525His) single nucleotide variant risk factor rs869312828 GRCh37 Chromosome 5, 176939370: 176939370
5 DDX41 NM_016222.3(DDX41): c.1187T> C (p.Ile396Thr) single nucleotide variant risk factor rs747072227 GRCh38 Chromosome 5, 177513396: 177513396
6 DDX41 NM_016222.3(DDX41): c.1187T> C (p.Ile396Thr) single nucleotide variant risk factor rs747072227 GRCh37 Chromosome 5, 176940397: 176940397
7 DDX41 NM_016222.2(DDX41): c.435_571del137 indel risk factor rs869320762 GRCh38 Chromosome 5, 177515822: 177515823
8 DDX41 NM_016222.2(DDX41): c.435_571del137 indel risk factor rs869320762 GRCh37 Chromosome 5, 176942823: 176942824
9 DDX41 NM_016222.3(DDX41): c.3G> A (p.Met1Ile) single nucleotide variant risk factor rs141601766 GRCh38 Chromosome 5, 177516943: 177516943
10 DDX41 NM_016222.3(DDX41): c.3G> A (p.Met1Ile) single nucleotide variant risk factor rs141601766 GRCh37 Chromosome 5, 176943944: 176943944
11 DDX41 NM_016222.3(DDX41): c.490C> T (p.Arg164Trp) single nucleotide variant risk factor rs142143752 GRCh38 Chromosome 5, 177515766: 177515766
12 DDX41 NM_016222.3(DDX41): c.490C> T (p.Arg164Trp) single nucleotide variant risk factor rs142143752 GRCh37 Chromosome 5, 176942767: 176942767
13 DDX41 NM_016222.3(DDX41): c.1142dup (p.Ile382Aspfs) duplication Pathogenic GRCh38 Chromosome 5, 177513441: 177513441
14 DDX41 NM_016222.3(DDX41): c.1142dup (p.Ile382Aspfs) duplication Pathogenic GRCh37 Chromosome 5, 176940442: 176940442
15 DDX41 NM_016222.3(DDX41): c.1016G> T (p.Arg339Leu) single nucleotide variant Likely pathogenic rs774698335 GRCh38 Chromosome 5, 177513767: 177513767
16 DDX41 NM_016222.3(DDX41): c.1016G> T (p.Arg339Leu) single nucleotide variant Likely pathogenic rs774698335 GRCh37 Chromosome 5, 176940768: 176940768
17 DDX41 NM_016222.3(DDX41): c.323delA (p.Lys108Serfs) deletion Pathogenic GRCh38 Chromosome 5, 177516169: 177516169
18 DDX41 NM_016222.3(DDX41): c.323delA (p.Lys108Serfs) deletion Pathogenic GRCh37 Chromosome 5, 176943170: 176943170
19 DDX41 NM_016222.3(DDX41): c.232_233insAA (p.Pro78Glnfs) insertion Pathogenic GRCh38 Chromosome 5, 177516353: 177516354
20 DDX41 NM_016222.3(DDX41): c.232_233insAA (p.Pro78Glnfs) insertion Pathogenic GRCh37 Chromosome 5, 176943354: 176943355

Expression for Myeloproliferative/lymphoproliferative Neoplasms, Familial

Search GEO for disease gene expression data for Myeloproliferative/lymphoproliferative Neoplasms, Familial.

Pathways for Myeloproliferative/lymphoproliferative Neoplasms, Familial

GO Terms for Myeloproliferative/lymphoproliferative Neoplasms, Familial

Sources for Myeloproliferative/lymphoproliferative Neoplasms, Familial

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