DMSMFH
MCID: DPH007
MIFTS: 29

Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma (DMSMFH)

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Diaphyseal Medullary Stenosis with Malignant Fibrous...

MalaCards integrated aliases for Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma:

Name: Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma 57 53 75 29 13 6 73
Bone Dysplasia with Malignant Fibrous Histiocytoma 57 53 75
Bone Dysplasia with Medullary Fibrosarcoma 57 53 75
Dmsmfh 57 53 75
Bdmf 57 53 75
Myopathy, Limb-Girdle, with Bone Fragility 57 53
Diaphyseal Medullary Stenosis-Malignant Fibrous Histiocytoma Syndrome 59
Stenosis, Medullary, Diaphyseal, with Malignant Fibrous Histiocytoma 40
Diaphyseal Medullary Stenosis-Bone Malignancy Syndrome 59
Bone Dysplasia with Medullary Fibrosarcoma; Bdmf 57
Bone Dysplasia-Medullary Fibrosarcoma Syndrome 59
Limb-Girdle Myopathy with Bone Fragility 75
Hardcastle Syndrome 59
Dms-Mfh 75

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
mean age at onset of bone fractures, 24 years
mean age at onset of proximal muscle weakness, 31 years
not all patients have a myopathy
most become wheelchair-bound late in life


HPO:

32
diaphyseal medullary stenosis with malignant fibrous histiocytoma:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diaphyseal Medullary Stenosis with Malignant Fibrous...

OMIM : 57 Diaphyseal medullary stenosis with malignant fibrous histiocytoma is an autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. In 2 families, affected individuals also showed a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma. Thus, the disorder may be considered a tumor predisposition syndrome (summary by Camacho-Vanegas et al., 2012). (112250)

MalaCards based summary : Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma, also known as bone dysplasia with malignant fibrous histiocytoma, is related to malignant fibroxanthoma and histiocytoma. An important gene associated with Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma is MTAP (Methylthioadenosine Phosphorylase). Affiliated tissues include bone, skin and skeletal muscle, and related phenotypes are osteopenia and myopathy

UniProtKB/Swiss-Prot : 75 Diaphyseal medullary stenosis with malignant fibrous histiocytoma: An autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. Some patients show a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85182Disease definitionDiaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancersyndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).Visit the Orphanet disease page for more resources.

Related Diseases for Diaphyseal Medullary Stenosis with Malignant Fibrous...

Diseases related to Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 malignant fibroxanthoma 10.4
2 histiocytoma 10.4
3 fibrous histiocytoma 10.4

Symptoms & Phenotypes for Diaphyseal Medullary Stenosis with Malignant Fibrous...

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
radiolucency of the bones

Muscle Soft Tissue:
proximal muscle weakness
limb-girdle muscle weakness (2 families)
proximal and distal muscle atrophy
distal limb muscle weakness occurs later
myopathic changes seen on emg and muscle biopsy

Skeletal Limbs:
bony dysplasia
pathologic fractures of the long bones
osteomyelitis leading to amputation due to slow healing fractures
patchy sclerotic changes to the long bones
coarse, sclerotic trabeculae
more
Skin Nails Hair Hair:
premature graying (1 family)

Neoplasia:
osteosarcoma
fibrosarcoma
malignant fibrous histiocytoma (in about 35% of patients)

Head And Neck Eyes:
presenile cataracts

Skin Nails Hair Skin:
soft, thin skin (1 family)
easy bruising (1 family)

Laboratory Abnormalities:
serum alkaline phosphatase normal or mildly increased
serum creatine kinase normal or mildly increased


Clinical features from OMIM:

112250

Human phenotypes related to Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 myopathy 32 occasional (7.5%) HP:0003198
3 skeletal muscle atrophy 32 HP:0003202
4 thin skin 32 occasional (7.5%) HP:0000963
5 pathologic fracture 32 HP:0002756
6 premature graying of hair 32 occasional (7.5%) HP:0002216
7 bruising susceptibility 32 occasional (7.5%) HP:0000978
8 osteosarcoma 32 HP:0002669
9 limb muscle weakness 32 HP:0003690
10 proximal muscle weakness 32 HP:0003701
11 bowing of the legs 32 HP:0002979
12 patchy osteosclerosis 32 HP:0005686
13 soft skin 32 occasional (7.5%) HP:0000977
14 fractures of the long bones 32 HP:0003084
15 fibrosarcoma 32 HP:0100244
16 stenosis of the medullary cavity of the long bones 32 HP:0100254
17 presenile cataracts 32 HP:0007819
18 osteomyelitis leading to amputation due to slow healing fractures 32 HP:0005010
19 diaphyseal cortical sclerosis 32 HP:0005045
20 limb-girdle muscle weakness 32 HP:0003325
21 histiocytoma 32 HP:0012315

Drugs & Therapeutics for Diaphyseal Medullary Stenosis with Malignant Fibrous...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone Completed NCT00007046

Search NIH Clinical Center for Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma

Genetic Tests for Diaphyseal Medullary Stenosis with Malignant Fibrous...

Genetic tests related to Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma:

# Genetic test Affiliating Genes
1 Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma 29 MTAP

Anatomical Context for Diaphyseal Medullary Stenosis with Malignant Fibrous...

MalaCards organs/tissues related to Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma:

41
Bone, Skin, Skeletal Muscle

Publications for Diaphyseal Medullary Stenosis with Malignant Fibrous...

Articles related to Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma:

# Title Authors Year
1
Diaphyseal medullary stenosis with malignant fibrous histiocytoma: further evidence for loss of heterozygosity involving 9p21-22 in tumor tissue. ( 11807991 )
2002
2
Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22. ( 10053015 )
1999

Variations for Diaphyseal Medullary Stenosis with Malignant Fibrous...

ClinVar genetic disease variations for Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma:

6
(show top 50) (show all 168)
# Gene Variation Type Significance SNP ID Assembly Location
1 MTAP MTAP, 885A-G, ARG100ARG single nucleotide variant Pathogenic
2 MTAP MTAP, IVS9AS, A-G, -2 single nucleotide variant Pathogenic
3 MTAP NM_002451.3(MTAP): c.-5C> G single nucleotide variant Uncertain significance rs375344882 GRCh37 Chromosome 9, 21802743: 21802743
4 MTAP NM_002451.3(MTAP): c.-5C> G single nucleotide variant Uncertain significance rs375344882 GRCh38 Chromosome 9, 21802744: 21802744
5 MTAP NM_002451.3(MTAP): c.300G> A (p.Glu100=) single nucleotide variant Uncertain significance rs762121645 GRCh37 Chromosome 9, 21818154: 21818154
6 MTAP NM_002451.3(MTAP): c.300G> A (p.Glu100=) single nucleotide variant Uncertain significance rs762121645 GRCh38 Chromosome 9, 21818155: 21818155
7 MTAP NM_002451.3(MTAP): c.691-13A> G single nucleotide variant Likely benign rs77412364 GRCh37 Chromosome 9, 21859289: 21859289
8 MTAP NM_002451.3(MTAP): c.691-13A> G single nucleotide variant Likely benign rs77412364 GRCh38 Chromosome 9, 21859290: 21859290
9 MTAP NM_002451.3(MTAP): c.768T> G (p.Pro256=) single nucleotide variant Likely benign rs62556500 GRCh37 Chromosome 9, 21859379: 21859379
10 MTAP NM_002451.3(MTAP): c.768T> G (p.Pro256=) single nucleotide variant Likely benign rs62556500 GRCh38 Chromosome 9, 21859380: 21859380
11 MTAP NM_002451.3(MTAP): c.*393G> C single nucleotide variant Likely benign rs78389853 GRCh37 Chromosome 9, 21862406: 21862406
12 MTAP NM_002451.3(MTAP): c.*393G> C single nucleotide variant Likely benign rs78389853 GRCh38 Chromosome 9, 21862407: 21862407
13 MTAP NM_002451.3(MTAP): c.*884T> A single nucleotide variant Benign rs1134871 GRCh37 Chromosome 9, 21862897: 21862897
14 MTAP NM_002451.3(MTAP): c.*884T> A single nucleotide variant Benign rs1134871 GRCh38 Chromosome 9, 21862898: 21862898
15 MTAP NM_002451.3(MTAP): c.*1225G> A single nucleotide variant Likely benign rs556119629 GRCh37 Chromosome 9, 21863238: 21863238
16 MTAP NM_002451.3(MTAP): c.*1225G> A single nucleotide variant Likely benign rs556119629 GRCh38 Chromosome 9, 21863239: 21863239
17 MTAP NM_002451.3(MTAP): c.*1621_*1622delAA deletion Uncertain significance rs56935102 GRCh37 Chromosome 9, 21863634: 21863635
18 MTAP NM_002451.3(MTAP): c.*1621_*1622delAA deletion Uncertain significance rs56935102 GRCh38 Chromosome 9, 21863635: 21863636
19 MTAP NM_002451.3(MTAP): c.*1643G> T single nucleotide variant Likely benign rs79546636 GRCh37 Chromosome 9, 21863656: 21863656
20 MTAP NM_002451.3(MTAP): c.*1643G> T single nucleotide variant Likely benign rs79546636 GRCh38 Chromosome 9, 21863657: 21863657
21 MTAP NM_002451.3(MTAP): c.*1936C> T single nucleotide variant Benign rs117552951 GRCh37 Chromosome 9, 21863949: 21863949
22 MTAP NM_002451.3(MTAP): c.*1936C> T single nucleotide variant Benign rs117552951 GRCh38 Chromosome 9, 21863950: 21863950
23 MTAP NM_002451.3(MTAP): c.*2238C> T single nucleotide variant Likely benign rs150727017 GRCh37 Chromosome 9, 21864251: 21864251
24 MTAP NM_002451.3(MTAP): c.*2238C> T single nucleotide variant Likely benign rs150727017 GRCh38 Chromosome 9, 21864252: 21864252
25 MTAP NM_002451.3(MTAP): c.*2279T> G single nucleotide variant Uncertain significance rs529226542 GRCh37 Chromosome 9, 21864292: 21864292
26 MTAP NM_002451.3(MTAP): c.*2279T> G single nucleotide variant Uncertain significance rs529226542 GRCh38 Chromosome 9, 21864293: 21864293
27 MTAP NM_002451.3(MTAP): c.*2348dupT duplication Benign rs397972510 GRCh37 Chromosome 9, 21864361: 21864361
28 MTAP NM_002451.3(MTAP): c.*2348dupT duplication Benign rs397972510 GRCh38 Chromosome 9, 21864362: 21864362
29 MTAP NM_002451.3(MTAP): c.*2383C> T single nucleotide variant Uncertain significance rs886063791 GRCh38 Chromosome 9, 21864397: 21864397
30 MTAP NM_002451.3(MTAP): c.*2383C> T single nucleotide variant Uncertain significance rs886063791 GRCh37 Chromosome 9, 21864396: 21864396
31 MTAP NM_002451.3(MTAP): c.*3389T> C single nucleotide variant Uncertain significance rs765432220 GRCh37 Chromosome 9, 21865402: 21865402
32 MTAP NM_002451.3(MTAP): c.*3389T> C single nucleotide variant Uncertain significance rs765432220 GRCh38 Chromosome 9, 21865403: 21865403
33 MTAP NM_002451.3(MTAP): c.*3916C> T single nucleotide variant Likely benign rs80226037 GRCh37 Chromosome 9, 21865929: 21865929
34 MTAP NM_002451.3(MTAP): c.*3916C> T single nucleotide variant Likely benign rs80226037 GRCh38 Chromosome 9, 21865930: 21865930
35 MTAP NM_002451.3(MTAP): c.39A> C (p.Gly13=) single nucleotide variant Uncertain significance rs139020435 GRCh37 Chromosome 9, 21815437: 21815437
36 MTAP NM_002451.3(MTAP): c.39A> C (p.Gly13=) single nucleotide variant Uncertain significance rs139020435 GRCh38 Chromosome 9, 21815438: 21815438
37 MTAP NM_002451.3(MTAP): c.166G> A (p.Val56Ile) single nucleotide variant Benign rs7023954 GRCh37 Chromosome 9, 21816758: 21816758
38 MTAP NM_002451.3(MTAP): c.166G> A (p.Val56Ile) single nucleotide variant Benign rs7023954 GRCh38 Chromosome 9, 21816759: 21816759
39 MTAP NM_002451.3(MTAP): c.179+12T> A single nucleotide variant Likely benign rs369294437 GRCh37 Chromosome 9, 21816783: 21816783
40 MTAP NM_002451.3(MTAP): c.179+12T> A single nucleotide variant Likely benign rs369294437 GRCh38 Chromosome 9, 21816784: 21816784
41 MTAP NM_002451.3(MTAP): c.187A> G (p.Arg63Gly) single nucleotide variant Uncertain significance rs886063781 GRCh37 Chromosome 9, 21818041: 21818041
42 MTAP NM_002451.3(MTAP): c.187A> G (p.Arg63Gly) single nucleotide variant Uncertain significance rs886063781 GRCh38 Chromosome 9, 21818042: 21818042
43 MTAP NM_002451.3(MTAP): c.566G> T (p.Trp189Leu) single nucleotide variant Likely benign rs184520335 GRCh37 Chromosome 9, 21854745: 21854745
44 MTAP NM_002451.3(MTAP): c.566G> T (p.Trp189Leu) single nucleotide variant Likely benign rs184520335 GRCh38 Chromosome 9, 21854746: 21854746
45 MTAP NM_002451.3(MTAP): c.603G> A (p.Glu201=) single nucleotide variant Likely benign rs189392570 GRCh37 Chromosome 9, 21854782: 21854782
46 MTAP NM_002451.3(MTAP): c.603G> A (p.Glu201=) single nucleotide variant Likely benign rs189392570 GRCh38 Chromosome 9, 21854783: 21854783
47 MTAP NM_002451.3(MTAP): c.653C> T (p.Ala218Val) single nucleotide variant Likely benign rs143080527 GRCh37 Chromosome 9, 21854832: 21854832
48 MTAP NM_002451.3(MTAP): c.653C> T (p.Ala218Val) single nucleotide variant Likely benign rs143080527 GRCh38 Chromosome 9, 21854833: 21854833
49 MTAP NM_002451.3(MTAP): c.*17A> G single nucleotide variant Likely benign rs553057304 GRCh38 Chromosome 9, 21862031: 21862031
50 MTAP NM_002451.3(MTAP): c.*17A> G single nucleotide variant Likely benign rs553057304 GRCh37 Chromosome 9, 21862030: 21862030

Expression for Diaphyseal Medullary Stenosis with Malignant Fibrous...

Search GEO for disease gene expression data for Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma.

Pathways for Diaphyseal Medullary Stenosis with Malignant Fibrous...

GO Terms for Diaphyseal Medullary Stenosis with Malignant Fibrous...

Sources for Diaphyseal Medullary Stenosis with Malignant Fibrous...

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