DMC
MCID: DYG001
MIFTS: 47

Dyggve-Melchior-Clausen Disease (DMC)

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

Aliases & Classifications for Dyggve-Melchior-Clausen Disease

MalaCards integrated aliases for Dyggve-Melchior-Clausen Disease:

Name: Dyggve-Melchior-Clausen Disease 57 12 20 58 36 13 15
Dyggve-Melchior-Clausen Syndrome 20 72 29 6 39 70
Dmc 57 72
Pseudo-Morquio Disease Type I 12
Dmc Syndrome 20
Dmc Disease 12

Characteristics:

Orphanet epidemiological data:

58
dyggve-melchior-clausen disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
waddling gait
allelic with smith-mccort dysplasia

Inheritance:
autosomal recessive


HPO:

31
dyggve-melchior-clausen disease:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Dyggve-Melchior-Clausen Disease

GARD : 20 Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic condition characterized by abnormal skeletal development, microcephaly, and intellectual disability. Only about 100 cases have been reported to date. Skeletal abnormalities may include a barrel-shaped chest with a short trunk, partial dislocation of the hips, knock knees, bowlegs, and decreased joint mobility. A small number of affected individuals experience instability in the upper neck vertebrae that can lead to spinal cord compression, weakness and paralysis. Normally, there is growth deficiency resulting in short stature. DMC is caused by mutations in the DYM gene and is inherited in an autosomal recessive manner. Some researchers have described an X-linked pattern of inheritance, which has not been confirmed to date.

MalaCards based summary : Dyggve-Melchior-Clausen Disease, also known as dyggve-melchior-clausen syndrome, is related to smith-mccort dysplasia 1 and mucopolysaccharidosis iv, and has symptoms including waddling gait An important gene associated with Dyggve-Melchior-Clausen Disease is DYM (Dymeclin), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Affiliated tissues include spinal cord and bone, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has material basis in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21.

OMIM® : 57 Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests (summary by El Ghouzzi et al., 2003). (223800) (Updated 05-Apr-2021)

KEGG : 36 Dyggve-Melchior-Clausen disease (DMC) is a rare autosomal recessive disorder characterized by the association of spondylo-epimetaphyseal dysplasia and mental retardation. The patients have a shortened trunk, striking barrel-shaped thorax, rhizomelic limb shortening, and distal deformities. A clinical entity similar to DMC but without mental retardation is called Smith McCort dysplasia. [DS:H02497]

UniProtKB/Swiss-Prot : 72 Dyggve-Melchior-Clausen syndrome: A rare autosomal recessive disorder belonging to the group of spondyloepimetaphyseal dysplasias. DMC is characterized by progressive short stature with short trunk dwarfism, microcephaly, protruding sternum, and psychomotor retardation. Radiological features include a platyspondyly with double vertebral humps, an epiphyso-metaphyseal dysplasia and lacy pelvis iliac crests.

Related Diseases for Dyggve-Melchior-Clausen Disease

Diseases related to Dyggve-Melchior-Clausen Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 smith-mccort dysplasia 1 30.8 STX5 RABGEF1 RABEP1 RAB33B GORASP1 GOLGA2
2 mucopolysaccharidosis iv 30.2 GALNS DYM
3 dyggve-melchior-clausen syndrome, x-linked 11.5
4 smith-mccort dysplasia 2 10.9
5 autosomal recessive disease 10.8
6 microcephaly 10.8
7 mucopolysaccharidosis-plus syndrome 10.7
8 metaphyseal dysplasia 10.7
9 alacrima, achalasia, and mental retardation syndrome 10.6
10 odontoid hypoplasia 10.5
11 scoliosis 10.5
12 major affective disorder 1 10.3
13 spondyloepiphyseal dysplasia with congenital joint dislocations 10.3
14 macroglossia 10.3
15 pelvic organ prolapse 10.3
16 neural tube defects 10.3
17 spondyloepimetaphyseal dysplasia, strudwick type 10.3
18 mood disorder 10.3
19 malignant hyperthermia 10.3
20 morquio syndrome 10.3
21 hip subluxation 10.3
22 spinal cord injury 10.3
23 glioblastoma 10.2
24 parkinsonism 10.2
25 glioma 10.2
26 glial tumor 10.2
27 spondyloepiphyseal dysplasia congenita 10.1 TRAPPC2 DYM
28 dementia 10.0
29 fibromyalgia 10.0
30 achondroplasia, severe, with developmental delay and acanthosis nigricans 10.0 TRIP11 TRAPPC2
31 geroderma osteodysplasticum 9.9 TRIP11 GOLPH3
32 mucopolysaccharidosis, type iva 9.9 GALNS DYM
33 bone development disease 9.9 TRAPPC2 GALNS DYM
34 burkitt lymphoma 9.9
35 ataxia-telangiectasia 9.9
36 myeloma, multiple 9.9
37 ataxia and polyneuropathy, adult-onset 9.9
38 hearing loss, noise-induced 9.9
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
40 spondyloepimetaphyseal dysplasia 9.9
41 vascular parkinsonism 9.9
42 telangiectasis 9.9
43 vascular disease 9.9
44 dwarfism 9.9
45 penis agenesis 9.9
46 mucopolysaccharidoses 9.9
47 vohwinkel syndrome 9.7 STX5 GORASP1 GOLGA2
48 achondrogenesis 9.6 TRIP11 GORASP1 GOLGA2
49 odontochondrodysplasia 9.5 TRIP11 TRAPPC2 GOLPH3 GALNS DYM

Graphical network of the top 20 diseases related to Dyggve-Melchior-Clausen Disease:



Diseases related to Dyggve-Melchior-Clausen Disease

Symptoms & Phenotypes for Dyggve-Melchior-Clausen Disease

Human phenotypes related to Dyggve-Melchior-Clausen Disease:

58 31 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
4 pectus carinatum 58 31 very rare (1%) Very frequent (99-80%) HP:0000768
5 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
6 genu valgum 58 31 very rare (1%) Very frequent (99-80%) HP:0002857
7 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
8 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
9 hip dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002827
10 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
11 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
12 abnormality of the ilium 58 31 hallmark (90%) Very frequent (99-80%) HP:0002867
13 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
14 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
15 kyphosis 58 31 very rare (1%) Frequent (79-30%) HP:0002808
16 short neck 58 31 very rare (1%) Frequent (79-30%) HP:0000470
17 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
18 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
19 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
20 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
21 disproportionate short-trunk short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003521
22 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
23 spinal canal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0003416
24 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
25 abnormality of the wrist 58 31 frequent (33%) Frequent (79-30%) HP:0003019
26 hypoplasia of the odontoid process 58 31 frequent (33%) Frequent (79-30%) HP:0003311
27 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
28 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
29 shoulder dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003834
30 pes planus 31 very rare (1%) HP:0001763
31 shield chest 31 very rare (1%) HP:0000914
32 talipes equinovarus 31 very rare (1%) HP:0001762
33 brachydactyly 31 very rare (1%) HP:0001156
34 clinodactyly of the 5th finger 31 very rare (1%) HP:0004209
35 genu varum 31 very rare (1%) HP:0002970
36 limitation of joint mobility 31 very rare (1%) HP:0001376
37 femoral bowing 31 very rare (1%) HP:0002980
38 tibial bowing 31 very rare (1%) HP:0002982
39 metaphyseal widening 31 very rare (1%) HP:0003016
40 flaring of lower rib cage 31 very rare (1%) HP:0006589
41 lumbar hyperlordosis 31 very rare (1%) HP:0002938
42 rhizomelic arm shortening 31 very rare (1%) HP:0004991
43 prominent calcaneus 31 very rare (1%) HP:0012428
44 mandibular prognathia 31 HP:0000303
45 thickened calvaria 31 HP:0002684
46 beaking of vertebral bodies 31 HP:0004568
47 abnormality of the hip bone 58 Very frequent (99-80%)
48 waddling gait 31 HP:0002515
49 severe global developmental delay 31 HP:0011344
50 short metacarpal 31 HP:0010049

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
platyspondyly
thoracic kyphosis
hypoplastic odontoid process
increased lumbar lordosis
more
Head And Neck Head:
microcephaly

Growth Other:
postnatal growth retardation

Skeletal Hands:
camptodactyly
short metacarpals
cone-shaped epiphyses
small carpals
broad hands

Chest Ribs Sternum Clavicles And Scapulae:
flat glenoid fossa
small scapula
sternal protrusion
wide costochondral junctions
flared acromion

Skeletal Feet:
short metatarsals
broad feet

Chest External Features:
short trunk
broad chest

Head And Neck Neck:
short neck

Skeletal Limbs:
genu valgum
rhizomelia
multicentric ossification of proximal humeral epiphyses
multicentric ossification of proximal femoral epiphyses

Skeletal Pelvis:
wide pubic symphysis
flat acetabular roof
small iliac wings
irregular, lacy iliac crests
wide sacroiliac joint
more
Skeletal Skull:
hypoplastic facial bones
deformed sella turcica
calvarial thickening (parietal and occipital regions)
hyperpneumatization of paranasal sinuses

Head And Neck Face:
prognathism
coarse facies

Growth Height:
short stature, disproportionate
adult height 98-127 cm

Neurologic Central Nervous System:
severe psychomotor retardation (iq 35-65)

Clinical features from OMIM®:

223800 (Updated 05-Apr-2021)

UMLS symptoms related to Dyggve-Melchior-Clausen Disease:


waddling gait

Drugs & Therapeutics for Dyggve-Melchior-Clausen Disease

Search Clinical Trials , NIH Clinical Center for Dyggve-Melchior-Clausen Disease

Genetic Tests for Dyggve-Melchior-Clausen Disease

Genetic tests related to Dyggve-Melchior-Clausen Disease:

# Genetic test Affiliating Genes
1 Dyggve-Melchior-Clausen Syndrome 29 DYM

Anatomical Context for Dyggve-Melchior-Clausen Disease

MalaCards organs/tissues related to Dyggve-Melchior-Clausen Disease:

40
Spinal Cord, Bone

Publications for Dyggve-Melchior-Clausen Disease

Articles related to Dyggve-Melchior-Clausen Disease:

(show top 50) (show all 72)
# Title Authors PMID Year
1
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. 6 57 61
12554689 2003
2
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. 61 6 57
12161821 2002
3
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. 57 6
12491225 2003
4
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia. 61 57
16470731 2006
5
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1. 57 61
12362026 2002
6
Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): morphological findings in the growth plate of the iliac crest. 57 61
9295067 1997
7
The Dyggve-Melchior-Clausen syndrome in Indian siblings. 57 61
1486701 1992
8
Dyggve-Melchior-Clausen syndrome. 61 57
2213845 1990
9
[Dyggve-Melchior-Clausen syndrome. Case report and review of the literature]. 57 61
7037691 1981
10
Abnormal serum alpha 2-macroglobulin in Dyggve-Melchior-Clausen syndrome. 61 57
6153699 1980
11
Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs. 61 57
117710 1979
12
The Dyggve-Melchior-Clausen syndrome in adult siblings. 61 57
679519 1978
13
The Dyggve-Melchior-Clausen syndrome. 57 61
141987 1977
14
The Dyggve-Melchio-Clausen syndrome. 57 61
401564 1977
15
The Dyggve-Melchior-Clausen syndrome. 61 57
1008064 1976
16
The Dyggve-Melchior-Clausen syndrome. 57 61
803318 1975
17
[2 further cases of Dyggve-Melchior-Clausen syndrome with hypoplasia of the odontoid apophysis and spinal compression]. 61 57
4219130 1974
18
Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain. 6
16097008 2005
19
Lysosomal (leucocyte) proteinase and sulfatase levels in Dyggve-Melchior-Clausen (DMC) syndrome. 57
74186 1977
20
Heterogeneity of Dyggve-Melchior-Clausen dwarfism. 57
964990 1976
21
Morquio-Ullrich's Disease: An Inborn Error of Metabolism? 57
21032395 1962
22
A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features. 61
32886330 2020
23
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients. 61
32766185 2020
24
Atlantoaxial Instability Treated with Posterior Atlantoaxial Fixation in Two Siblings with Dyggve-Melchior-Clausen Syndrome. 61
33216345 2020
25
Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans. 61
25652408 2015
26
An extremely rare association of dyggve-melchior-clausen syndrome with mania: coincidence or comorbidity. 61
25969613 2015
27
Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center. 61
26376227 2015
28
A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome. 61
24300288 2014
29
Unpredictability of hip behavior in Dyggve-Melchior-Clausen syndrome: a mid-term assessment of siblings. 61
24035654 2013
30
A novel RAB33B mutation in Smith-McCort dysplasia. 61
23042644 2013
31
Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus. 61
22652534 2012
32
A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review. 61
22090722 2011
33
Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development. 61
21280149 2011
34
Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome. 61
21966286 2011
35
Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation. 61
20865280 2011
36
Dyggve melchior clausen syndrome. 61
21149903 2010
37
An association study between the dymeclin gene and schizophrenia in the Japanese population. 61
20555340 2010
38
Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families. 61
19816730 2009
39
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. 61
18996921 2009
40
Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic. 61
18852472 2008
41
Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome. 61
18243083 2008
42
[Dyggve-Melchior-Clausen syndrome, diagnostic difficulty due to it similarity to Morquio disease]. 61
17323241 2007
43
[Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin]. 61
17288936 2007
44
Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder. 61
16326827 2005
45
MRI findings in Dyggve-Melchior-Clausen syndrome, a rare spondyloepiphyseal dysplasia. 61
16161079 2005
46
Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia). 61
16206059 2005
47
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. 61
15726110 2005
48
Recent advances in Dyggve-Melchior-Clausen syndrome. 61
15464420 2004
49
Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature. 61
12499951 2003
50
Atlantoaxial instability in Dyggve-Melchior-Clausen syndrome. Case report and review of the literature. 61
11795698 2002

Variations for Dyggve-Melchior-Clausen Disease

ClinVar genetic disease variations for Dyggve-Melchior-Clausen Disease:

6 (show top 50) (show all 61)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DYM NM_017653.5(DYM):c.48C>G (p.Tyr16Ter) SNV Pathogenic 3184 rs120074161 GRCh37: 18:46956717-46956717
GRCh38: 18:49430347-49430347
2 DYM NM_017653.5(DYM):c.763del (p.Thr255fs) Deletion Pathogenic 3185 rs1568264929 GRCh37: 18:46858234-46858234
GRCh38: 18:49331864-49331864
3 DYM NM_017653.5(DYM):c.396T>A (p.Tyr132Ter) SNV Pathogenic 3186 rs120074162 GRCh37: 18:46904962-46904962
GRCh38: 18:49378592-49378592
4 DYM NM_017653.5(DYM):c.1405A>T (p.Asn469Tyr) SNV Pathogenic 3187 rs120074163 GRCh37: 18:46783435-46783435
GRCh38: 18:49257065-49257065
5 DYM NM_017653.5(DYM):c.621-2A>G SNV Pathogenic 198883 rs775414124 GRCh37: 18:46858378-46858378
GRCh38: 18:49332008-49332008
6 DYM NM_017653.5(DYM):c.1252-1G>A SNV Pathogenic 3190 rs1568119124 GRCh37: 18:46784864-46784864
GRCh38: 18:49258494-49258494
7 DYM NM_017653.5(DYM):c.422-2A>G SNV Pathogenic 3192 rs1568319747 GRCh37: 18:46889605-46889605
GRCh38: 18:49363235-49363235
8 DYM NM_001353214.3(DYM):c.95dup (p.Trp33fs) Duplication Pathogenic 813511 rs1600192503 GRCh37: 18:46956669-46956670
GRCh38: 18:49430299-49430300
9 DYM NM_001353214.3(DYM):c.947-2A>G SNV Pathogenic 982866 GRCh37: 18:46808547-46808547
GRCh38: 18:49282177-49282177
10 DYM NM_001353214.3(DYM):c.719C>A (p.Ser240Ter) SNV Pathogenic 1027549 GRCh37: 18:46858278-46858278
GRCh38: 18:49331908-49331908
11 DYM , LOC100129878 NM_017653.5(DYM):c.1878del (p.Lys626fs) Deletion Pathogenic 3191 rs1471488189 GRCh37: 18:46570557-46570557
GRCh38: 18:49044187-49044187
12 DYM NM_001353214.3(DYM):c.1650dup (p.His551fs) Duplication Pathogenic 1048086 GRCh37: 18:46690132-46690133
GRCh38: 18:49163762-49163763
13 DYM NM_001353214.3(DYM):c.1653_1654del (p.His551fs) Microsatellite Pathogenic 1048089 GRCh37: 18:46690129-46690130
GRCh38: 18:49163759-49163760
14 DYM NM_001353214.3(DYM):c.705_708dup (p.Pro237fs) Duplication Pathogenic 1048091 GRCh37: 18:46858288-46858289
GRCh38: 18:49331918-49331919
15 DYM NM_001353214.3(DYM):c.963del (p.Ser322fs) Deletion Pathogenic 1048092 GRCh37: 18:46808529-46808529
GRCh38: 18:49282159-49282159
16 DYM NM_001353214.3(DYM):c.1728+2T>C SNV Likely pathogenic 1048090 GRCh37: 18:46690053-46690053
GRCh38: 18:49163683-49163683
17 DYM NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter) SNV Likely pathogenic 992365 GRCh37: 18:46645263-46645263
GRCh38: 18:49118893-49118893
18 DYM NM_001353214.3(DYM):c.899C>T (p.Ala300Val) SNV Uncertain significance 1033852 GRCh37: 18:46812851-46812851
GRCh38: 18:49286481-49286481
19 DYM NM_001353214.3(DYM):c.1626-8T>G SNV Uncertain significance 726259 rs374658638 GRCh37: 18:46690165-46690165
GRCh38: 18:49163795-49163795
20 DYM NM_017653.5(DYM):c.620+4T>G SNV Uncertain significance 287525 rs201652921 GRCh37: 18:46860094-46860094
GRCh38: 18:49333724-49333724
21 DYM NM_017653.5(DYM):c.920C>T (p.Ala307Val) SNV Uncertain significance 326900 rs200843715 GRCh37: 18:46812830-46812830
GRCh38: 18:49286460-49286460
22 DYM NM_017653.5(DYM):c.321G>A (p.Leu107=) SNV Uncertain significance 326905 rs16950519 GRCh37: 18:46905037-46905037
GRCh38: 18:49378667-49378667
23 DYM NM_001353214.3(DYM):c.550T>C (p.Ser184Pro) SNV Uncertain significance 1048087 GRCh37: 18:46860168-46860168
GRCh38: 18:49333798-49333798
24 DYM NM_001353214.3(DYM):c.1049T>G (p.Leu350Arg) SNV Uncertain significance 1048088 GRCh37: 18:46808443-46808443
GRCh38: 18:49282073-49282073
25 DYM NM_017653.5(DYM):c.1830C>T (p.Gly610=) SNV Uncertain significance 326890 rs370290857 GRCh37: 18:46623802-46623802
GRCh38: 18:49097432-49097432
26 DYM NM_017653.5(DYM):c.21A>T (p.Arg7Ser) SNV Uncertain significance 326909 rs765630940 GRCh37: 18:46956744-46956744
GRCh38: 18:49430374-49430374
27 DYM NM_017653.5(DYM):c.1115T>C (p.Met372Thr) SNV Uncertain significance 326897 rs886053844 GRCh37: 18:46808377-46808377
GRCh38: 18:49282007-49282007
28 DYM NM_017653.5(DYM):c.1812G>A (p.Leu604=) SNV Uncertain significance 326891 rs201023000 GRCh37: 18:46623820-46623820
GRCh38: 18:49097450-49097450
29 DYM NM_017653.5(DYM):c.-169G>A SNV Uncertain significance 326912 rs886053849 GRCh37: 18:46986883-46986883
GRCh38: 18:49460513-49460513
30 DYM NM_017653.5(DYM):c.1759T>C (p.Phe587Leu) SNV Uncertain significance 326892 rs151034190 GRCh37: 18:46623873-46623873
GRCh38: 18:49097503-49097503
31 DYM NM_017653.5(DYM):c.1552C>T (p.Leu518=) SNV Uncertain significance 283838 rs145279594 GRCh37: 18:46690066-46690066
GRCh38: 18:49163696-49163696
32 DYM NM_017653.5(DYM):c.-243C>T SNV Uncertain significance 326916 rs886053851 GRCh37: 18:46986957-46986957
GRCh38: 18:49460587-49460587
33 DYM , LOC100129878 NM_017653.5(DYM):c.1888G>A (p.Val630Met) SNV Uncertain significance 326889 rs757286463 GRCh37: 18:46570547-46570547
GRCh38: 18:49044177-49044177
34 DYM NM_017653.5(DYM):c.1116G>A (p.Met372Ile) SNV Uncertain significance 326896 rs775476671 GRCh37: 18:46808376-46808376
GRCh38: 18:49282006-49282006
35 DYM NM_017653.5(DYM):c.-238G>T SNV Uncertain significance 326915 rs886053850 GRCh37: 18:46986952-46986952
GRCh38: 18:49460582-49460582
36 DYM NM_017653.5(DYM):c.42T>G (p.Asn14Lys) SNV Uncertain significance 326908 rs768630165 GRCh37: 18:46956723-46956723
GRCh38: 18:49430353-49430353
37 DYM NM_017653.5(DYM):c.-294C>T SNV Uncertain significance 326918 rs369624199 GRCh37: 18:46987008-46987008
GRCh38: 18:49460638-49460638
38 DYM , LOC100129878 NM_017653.5(DYM):c.1999G>T (p.Asp667Tyr) SNV Uncertain significance 326888 rs528865224 GRCh37: 18:46570436-46570436
GRCh38: 18:49044066-49044066
39 DYM NM_017653.5(DYM):c.573A>T (p.Glu191Asp) SNV Uncertain significance 326902 rs370414289 GRCh37: 18:46860145-46860145
GRCh38: 18:49333775-49333775
40 DYM NM_017653.5(DYM):c.-94G>C SNV Uncertain significance 326910 rs886053848 GRCh37: 18:46986808-46986808
GRCh38: 18:49460438-49460438
41 DYM NM_017653.5(DYM):c.1778A>G (p.Gln593Arg) SNV Uncertain significance 284211 rs146000214 GRCh37: 18:46623854-46623854
GRCh38: 18:49097484-49097484
42 DYM NM_017653.5(DYM):c.-154G>T SNV Uncertain significance 326911 rs547563112 GRCh37: 18:46986868-46986868
GRCh38: 18:49460498-49460498
43 DYM NM_017653.5(DYM):c.961C>T (p.Pro321Ser) SNV Uncertain significance 326899 rs886053845 GRCh37: 18:46808531-46808531
GRCh38: 18:49282161-49282161
44 DYM NM_017653.5(DYM):c.831T>C (p.Ser277=) SNV Uncertain significance 326901 rs886053846 GRCh37: 18:46812919-46812919
GRCh38: 18:49286549-49286549
45 DYM NM_017653.5(DYM):c.1703G>A (p.Arg568Gln) SNV Uncertain significance 326894 rs138427861 GRCh37: 18:46645157-46645157
GRCh38: 18:49118787-49118787
46 DYM , LOC100129878 NM_017653.5(DYM):c.*123G>A SNV Uncertain significance 326885 rs886053843 GRCh37: 18:46570302-46570302
GRCh38: 18:49043932-49043932
47 DYM NM_017653.5(DYM):c.1251+12T>C SNV Uncertain significance 326895 rs374105000 GRCh37: 18:46798536-46798536
GRCh38: 18:49272166-49272166
48 DYM NM_017653.5(DYM):c.-251G>T SNV Uncertain significance 326917 rs886053852 GRCh37: 18:46986965-46986965
GRCh38: 18:49460595-49460595
49 DYM NM_017653.5(DYM):c.980C>A (p.Ala327Asp) SNV Uncertain significance 326898 rs147724274 GRCh37: 18:46808512-46808512
GRCh38: 18:49282142-49282142
50 DYM NM_017653.5(DYM):c.297C>T (p.Phe99=) SNV Uncertain significance 326906 rs886053847 GRCh37: 18:46905061-46905061
GRCh38: 18:49378691-49378691

UniProtKB/Swiss-Prot genetic disease variations for Dyggve-Melchior-Clausen Disease:

72
# Symbol AA change Variation ID SNP ID
1 DYM p.Asn469Tyr VAR_054499 rs120074163

Expression for Dyggve-Melchior-Clausen Disease

Search GEO for disease gene expression data for Dyggve-Melchior-Clausen Disease.

Pathways for Dyggve-Melchior-Clausen Disease

Pathways related to Dyggve-Melchior-Clausen Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.43 TRIP11 TRAPPC2 STX5 RABGEF1 RABEP1 RAB33B
2
Show member pathways
12.18 TRIP11 STX5 RAB33B ARL1
3 10.99 TRIP11 STX5 RAB33B
4 10.93 RABGEF1 RABEP1 RAB33B RAB33A
5
Show member pathways
10.91 RABGEF1 RABEP1

GO Terms for Dyggve-Melchior-Clausen Disease

Cellular components related to Dyggve-Melchior-Clausen Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.65 RABGEF1 RABEP1 RAB33B RAB33A GOLPH3
2 Golgi apparatus GO:0005794 9.61 TRIP11 STX5 RAB33B RAB33A GORASP1 GOLPH3
3 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.46 TRIP11 STX5 GORASP1 GOLGA2
4 Golgi membrane GO:0000139 9.23 TRIP11 TRAPPC2 STX5 RAB33B RAB33A GORASP1

Biological processes related to Dyggve-Melchior-Clausen Disease according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.8 RABGEF1 RABEP1 RAB33B GORASP1 GOLPH3 GOLGA2
2 vesicle-mediated transport GO:0016192 9.71 TRAPPC2 STX5 RABEP1 ARL1
3 ER to Golgi vesicle-mediated transport GO:0006888 9.65 TRIP11 TRAPPC2 STX5 GORASP1 GOLGA2
4 protein localization to Golgi apparatus GO:0034067 9.49 RAB33B ARL1
5 Rab protein signal transduction GO:0032482 9.48 RAB33B RAB33A
6 regulation of Golgi organization GO:1903358 9.46 STX5 RAB33B
7 positive regulation of ubiquitin protein ligase activity GO:1904668 9.43 GORASP1 GOLGA2
8 Golgi disassembly GO:0090166 9.37 STX5 GOLGA2
9 Golgi ribbon formation GO:0090161 9.33 TRIP11 GOLPH3 GOLGA2
10 COPII vesicle coating GO:0048208 9.26 TRAPPC2 STX5 GORASP1 GOLGA2
11 Golgi organization GO:0007030 9.1 TRIP11 GORASP1 GOLPH3 GOLGA2 DYM ARL1

Sources for Dyggve-Melchior-Clausen Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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