UCMD2
MCID: ULL003
MIFTS: 27

Ullrich Congenital Muscular Dystrophy 2 (UCMD2)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Ullrich Congenital Muscular Dystrophy 2

MalaCards integrated aliases for Ullrich Congenital Muscular Dystrophy 2:

Name: Ullrich Congenital Muscular Dystrophy 2 57 72 29 6
Ucmd2 57 72
Dystrophy, Muscular, Congenital, Ullrich, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


Classifications:



Summaries for Ullrich Congenital Muscular Dystrophy 2

UniProtKB/Swiss-Prot : 72 Ullrich congenital muscular dystrophy 2: A form of Ullrich muscular dystrophy, a congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.

MalaCards based summary : Ullrich Congenital Muscular Dystrophy 2, is also known as ucmd2. An important gene associated with Ullrich Congenital Muscular Dystrophy 2 is COL12A1 (Collagen Type XII Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are facial palsy and high palate

More information from OMIM: 616470 PS254090

Related Diseases for Ullrich Congenital Muscular Dystrophy 2

Diseases in the Ullrich Congenital Muscular Dystrophy 1 family:

Ullrich Congenital Muscular Dystrophy 2

Symptoms & Phenotypes for Ullrich Congenital Muscular Dystrophy 2

Human phenotypes related to Ullrich Congenital Muscular Dystrophy 2:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 facial palsy 31 HP:0010628
2 high palate 31 HP:0000218
3 respiratory insufficiency 31 HP:0002093
4 flexion contracture 31 HP:0001371
5 motor delay 31 HP:0001270
6 kyphoscoliosis 31 HP:0002751
7 joint hypermobility 31 HP:0001382
8 areflexia 31 HP:0001284
9 congenital muscular dystrophy 31 HP:0003741

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
muscle weakness
delayed motor milestones
inability to ambulate
variability in fiber diameter seen on muscle biopsy

Respiratory:
nocturnal hypoventilation

Neurologic Peripheral Nervous System:
absent deep tendon reflexes

Laboratory Abnormalities:
normal creatine kinase

Skeletal Limbs:
distal joint hypermobility proximal joint contractures

Skeletal Spine:
kyphoscoliosis

Head And Neck Mouth:
high-arched palate

Head And Neck Face:
facial weakness

Abdomen Gastrointestinal:
feeding difficulties (requiring gastrostomy tube)

Clinical features from OMIM®:

616470 (Updated 20-May-2021)

Drugs & Therapeutics for Ullrich Congenital Muscular Dystrophy 2

Search Clinical Trials , NIH Clinical Center for Ullrich Congenital Muscular Dystrophy 2

Genetic Tests for Ullrich Congenital Muscular Dystrophy 2

Genetic tests related to Ullrich Congenital Muscular Dystrophy 2:

# Genetic test Affiliating Genes
1 Ullrich Congenital Muscular Dystrophy 2 29 COL12A1

Anatomical Context for Ullrich Congenital Muscular Dystrophy 2

MalaCards organs/tissues related to Ullrich Congenital Muscular Dystrophy 2:

40
Bone

Publications for Ullrich Congenital Muscular Dystrophy 2

Articles related to Ullrich Congenital Muscular Dystrophy 2:

# Title Authors PMID Year
1
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. 6 57
24334604 2014
2
Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts. 6
29342313 2018
3
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. 6
28973083 2017
4
Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects. 6
27348394 2017
5
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. 6
27159402 2016
6
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. 6
24334769 2014
7
Type XII collagen regulates osteoblast polarity and communication during bone formation. 57
21670218 2011
8
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies. 61
33441455 2021

Variations for Ullrich Congenital Muscular Dystrophy 2

ClinVar genetic disease variations for Ullrich Congenital Muscular Dystrophy 2:

6 (show top 50) (show all 825)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL12A1 NM_004370.6(COL12A1):c.7840+1G>A SNV Pathogenic 204294 rs875989819 GRCh37: 6:75823317-75823317
GRCh38: 6:75113601-75113601
2 COL12A1 NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter) SNV Pathogenic 475858 rs1329022055 GRCh37: 6:75865511-75865511
GRCh38: 6:75155795-75155795
3 COL12A1 NM_004370.6(COL12A1):c.3994del (p.Ala1332fs) Deletion Pathogenic 475862 rs1554182935 GRCh37: 6:75861589-75861589
GRCh38: 6:75151873-75151873
4 COL12A1 NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) SNV Pathogenic 204295 rs796052093 GRCh37: 6:75831103-75831103
GRCh38: 6:75121387-75121387
5 COL12A1 NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter) SNV Pathogenic 642795 rs371399251 GRCh37: 6:75801078-75801078
GRCh38: 6:75091362-75091362
6 COL12A1 NM_004370.6(COL12A1):c.3758T>G (p.Leu1253Ter) SNV Pathogenic 647130 rs1582139761 GRCh37: 6:75861924-75861924
GRCh38: 6:75152208-75152208
7 COL12A1 NM_004370.6(COL12A1):c.4738del (p.Ser1580fs) Deletion Pathogenic 657345 rs1471550984 GRCh37: 6:75853057-75853057
GRCh38: 6:75143341-75143341
8 COL12A1 NM_004370.6(COL12A1):c.4172dup (p.Leu1391fs) Duplication Pathogenic 642260 rs1582133194 GRCh37: 6:75858188-75858189
GRCh38: 6:75148472-75148473
9 COL12A1 NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter) SNV Pathogenic 659962 rs1562223444 GRCh37: 6:75857508-75857508
GRCh38: 6:75147792-75147792
10 COL12A1 NM_004370.6(COL12A1):c.7925_7926del (p.Thr2642fs) Deletion Pathogenic 661356 rs1582068925 GRCh37: 6:75822944-75822945
GRCh38: 6:75113228-75113229
11 COL12A1 NM_004370.6(COL12A1):c.8464C>T (p.Arg2822Ter) SNV Pathogenic 692031 rs984314526 GRCh37: 6:75811720-75811720
GRCh38: 6:75102004-75102004
12 COL12A1 NM_004370.6(COL12A1):c.8383G>T (p.Gly2795Ter) SNV Pathogenic 835532 GRCh37: 6:75812345-75812345
GRCh38: 6:75102629-75102629
13 COL12A1 NM_004370.6(COL12A1):c.8100+2T>C SNV Pathogenic 843473 GRCh37: 6:75818732-75818732
GRCh38: 6:75109016-75109016
14 COL12A1 NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter) SNV Pathogenic 853507 GRCh37: 6:75858121-75858121
GRCh38: 6:75148405-75148405
15 COL12A1 NM_004370.6(COL12A1):c.1488dup (p.Phe497fs) Duplication Pathogenic 816811 rs1582196903 GRCh37: 6:75893168-75893169
GRCh38: 6:75183452-75183453
16 COL12A1 NM_004370.6(COL12A1):c.4177del (p.Ile1393fs) Deletion Pathogenic 861370 GRCh37: 6:75858184-75858184
GRCh38: 6:75148468-75148468
17 COL12A1 NM_004370.6(COL12A1):c.4414dup (p.Thr1472fs) Duplication Pathogenic 961675 GRCh37: 6:75857393-75857394
GRCh38: 6:75147677-75147678
18 COL12A1 NM_004370.6(COL12A1):c.6125C>A (p.Ser2042Ter) SNV Pathogenic 940321 GRCh37: 6:75839892-75839892
GRCh38: 6:75130176-75130176
19 COL12A1 NM_004370.6(COL12A1):c.6612T>A (p.Tyr2204Ter) SNV Pathogenic 945967 GRCh37: 6:75834083-75834083
GRCh38: 6:75124367-75124367
20 COL12A1 NC_000006.12:g.75117547del Deletion Pathogenic 960454 GRCh37: 6:75827261-75827261
GRCh38: 6:75117545-75117545
21 COL12A1 NM_004370.6(COL12A1):c.8179-2A>G SNV Likely pathogenic 851983 GRCh37: 6:75815010-75815010
GRCh38: 6:75105294-75105294
22 COL12A1 NM_004370.6(COL12A1):c.8319+1G>C SNV Likely pathogenic 949905 GRCh37: 6:75813472-75813472
GRCh38: 6:75103756-75103756
23 COL12A1 NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter) SNV Likely pathogenic 929448 GRCh37: 6:75861682-75861682
GRCh38: 6:75151966-75151966
24 COL12A1 NM_004370.6(COL12A1):c.8415+1G>C SNV Likely pathogenic 950749 GRCh37: 6:75812312-75812312
GRCh38: 6:75102596-75102596
25 COL12A1 NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) SNV Likely pathogenic 204295 rs796052093 GRCh37: 6:75831103-75831103
GRCh38: 6:75121387-75121387
26 COL12A1 NM_004370.6(COL12A1):c.756dup (p.Ser253fs) Duplication Likely pathogenic 800860 rs1582208315 GRCh37: 6:75898999-75899000
GRCh38: 6:75189283-75189284
27 COL12A1 NM_004370.6(COL12A1):c.5230+1G>A SNV Likely pathogenic 578147 rs1274606112 GRCh37: 6:75848163-75848163
GRCh38: 6:75138447-75138447
28 COL12A1 NM_004370.6(COL12A1):c.395-2A>C SNV Likely pathogenic 579878 rs1562310723 GRCh37: 6:75899533-75899533
GRCh38: 6:75189817-75189817
29 COL12A1 NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) SNV Likely pathogenic 522655 rs755536829 GRCh37: 6:75847259-75847259
GRCh38: 6:75137543-75137543
30 COL12A1 NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) SNV Uncertain significance 423385 rs201337277 GRCh37: 6:75823001-75823001
GRCh38: 6:75113285-75113285
31 COL12A1 NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) SNV Uncertain significance 522655 rs755536829 GRCh37: 6:75847259-75847259
GRCh38: 6:75137543-75137543
32 COL12A1 NM_004370.6(COL12A1):c.4991C>A (p.Thr1664Asn) SNV Uncertain significance 542476 rs754587593 GRCh37: 6:75848644-75848644
GRCh38: 6:75138928-75138928
33 COL12A1 NM_004370.6(COL12A1):c.5582A>G (p.Asn1861Ser) SNV Uncertain significance 542477 rs1160822324 GRCh37: 6:75843656-75843656
GRCh38: 6:75133940-75133940
34 COL12A1 NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln) SNV Uncertain significance 542478 rs182768408 GRCh37: 6:75844465-75844465
GRCh38: 6:75134749-75134749
35 COL12A1 NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys) SNV Uncertain significance 393184 rs372985511 GRCh37: 6:75827140-75827140
GRCh38: 6:75117424-75117424
36 COL12A1 NM_004370.6(COL12A1):c.4936G>C (p.Val1646Leu) SNV Uncertain significance 542479 rs779002973 GRCh37: 6:75851769-75851769
GRCh38: 6:75142053-75142053
37 COL12A1 NM_004370.6(COL12A1):c.1988A>G (p.His663Arg) SNV Uncertain significance 542480 rs764241362 GRCh37: 6:75890831-75890831
GRCh38: 6:75181115-75181115
38 COL12A1 NM_004370.6(COL12A1):c.1783C>A (p.His595Asn) SNV Uncertain significance 542481 rs370544100 GRCh37: 6:75892874-75892874
GRCh38: 6:75183158-75183158
39 COL12A1 NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn) SNV Uncertain significance 542482 rs558571598 GRCh37: 6:75901970-75901970
GRCh38: 6:75192254-75192254
40 COL12A1 NM_004370.6(COL12A1):c.2546C>A (p.Thr849Asn) SNV Uncertain significance 542483 rs559028883 GRCh37: 6:75884918-75884918
GRCh38: 6:75175202-75175202
41 COL12A1 NM_004370.6(COL12A1):c.5587C>T (p.Arg1863Cys) SNV Uncertain significance 542484 rs201372309 GRCh37: 6:75843651-75843651
GRCh38: 6:75133935-75133935
42 COL12A1 NM_004370.6(COL12A1):c.5432A>G (p.Gln1811Arg) SNV Uncertain significance 542485 rs558214604 GRCh37: 6:75844534-75844534
GRCh38: 6:75134818-75134818
43 COL12A1 NM_004370.6(COL12A1):c.2044T>A (p.Ser682Thr) SNV Uncertain significance 542486 rs371321756 GRCh37: 6:75890775-75890775
GRCh38: 6:75181059-75181059
44 COL12A1 NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe) SNV Uncertain significance 542487 rs199992321 GRCh37: 6:75884968-75884968
GRCh38: 6:75175252-75175252
45 COL12A1 NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met) SNV Uncertain significance 425388 rs201988277 GRCh37: 6:75823017-75823017
GRCh38: 6:75113301-75113301
46 COL12A1 NM_004370.6(COL12A1):c.3245C>G (p.Thr1082Arg) SNV Uncertain significance 542488 rs762817385 GRCh37: 6:75865978-75865978
GRCh38: 6:75156262-75156262
47 COL12A1 NM_004370.6(COL12A1):c.3034A>G (p.Met1012Val) SNV Uncertain significance 542489 rs1188543260 GRCh37: 6:75866189-75866189
GRCh38: 6:75156473-75156473
48 COL12A1 NM_004370.6(COL12A1):c.713G>C (p.Arg238Thr) SNV Uncertain significance 542490 rs1554188387 GRCh37: 6:75899043-75899043
GRCh38: 6:75189327-75189327
49 COL12A1 NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) SNV Uncertain significance 542491 rs55997127 GRCh37: 6:75833070-75833070
GRCh38: 6:75123354-75123354
50 COL12A1 NM_004370.6(COL12A1):c.2006C>T (p.Ala669Val) SNV Uncertain significance 542492 rs201657576 GRCh37: 6:75890813-75890813
GRCh38: 6:75181097-75181097

Expression for Ullrich Congenital Muscular Dystrophy 2

Search GEO for disease gene expression data for Ullrich Congenital Muscular Dystrophy 2.

Pathways for Ullrich Congenital Muscular Dystrophy 2

GO Terms for Ullrich Congenital Muscular Dystrophy 2

Sources for Ullrich Congenital Muscular Dystrophy 2

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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