FBCG1
MCID: FBR029
MIFTS: 45

Fibrochondrogenesis 1 (FBCG1)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases

Aliases & Classifications for Fibrochondrogenesis 1

MalaCards integrated aliases for Fibrochondrogenesis 1:

Name: Fibrochondrogenesis 1 57 12 72 29 6 15 70
Fbcg1 57 72
Fibrochondrogenesis, Type 1 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
all affected individuals have been stillborn or died in the neonatal period


HPO:

31
fibrochondrogenesis 1:
Onset and clinical course stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fibrochondrogenesis 1

OMIM® : 57 Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape. The vertebral bodies are flat and, on lateral view, have a distinctive pinched appearance, with a hypoplastic posterior end and a rounded anterior end. The ribs are typically short and wide and have metaphyseal cupping at both ends (summary by Tompson et al., 2010). (228520) (Updated 05-Apr-2021)

MalaCards based summary : Fibrochondrogenesis 1, also known as fbcg1, is related to fibrochondrogenesis and fibrochondrogenesis 2, and has symptoms including edema An important gene associated with Fibrochondrogenesis 1 is COL11A1 (Collagen Type XI Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include bone, and related phenotypes are frontal bossing and short neck

Disease Ontology : 12 A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has material basis in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21.

UniProtKB/Swiss-Prot : 72 Fibrochondrogenesis 1: A severe short-limbed skeletal dysplasia characterized by broad long- bone metaphyses, pear-shaped vertebral bodies, and characteristic morphology of the growth plate, in which the chondrocytes have a fibroblastic appearance and there are regions of fibrous cartilage extracellular matrix. Clinical features include a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen.

Related Diseases for Fibrochondrogenesis 1

Diseases in the Fibrochondrogenesis family:

Fibrochondrogenesis 1 Fibrochondrogenesis 2

Diseases related to Fibrochondrogenesis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 fibrochondrogenesis 30.3 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2 COL11A1
2 fibrochondrogenesis 2 11.0
3 kohler's disease 10.1 COL11A2 COL11A1
4 retinal perforation 10.1 COL11A2 COL11A1
5 cleft soft palate 10.1 COL11A2 COL11A1
6 schneckenbecken dysplasia 10.1 COL11A2 COL11A1
7 stickler syndrome, type i 10.0 COL9A2 COL11A1
8 vitreoretinal degeneration 10.0 COL9A2 COL11A1
9 skeletal dysplasias 9.9 MATN3 COL11A2
10 back pain 9.9 COL9A3 COL9A2
11 macroglossia 9.8 COL9A1 COL11A1
12 intervertebral disc disease 9.8 COL9A3 COL9A2 COL11A1
13 bone deterioration disease 9.7 COL9A3 COL9A2
14 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.7 COL9A1 COL11A2 COL11A1
15 bone structure disease 9.6 COL9A3 COL9A2
16 orofacial cleft 9.5 COL9A1 COL11A2 COL11A1
17 atelosteogenesis 9.5 COL9A3 COL9A2 COL9A1
18 hypochondrogenesis 9.5 MATN3 COL9A2 COL9A1
19 osteoarthritis 9.5 MATN3 COL9A1 COL11A2
20 otospondylomegaepiphyseal dysplasia, autosomal recessive 9.4 COL9A2 COL9A1 COL11A2 COL11A1
21 cleft palate, isolated 9.3 COL9A2 COL9A1 COL11A2 COL11A1
22 campomelic dysplasia 9.3 COL9A2 COL9A1 COL27A1 COL11A2
23 myopia 9.3 COL9A2 COL9A1 COL11A2 COL11A1
24 retinal detachment 9.3 COL9A3 COL9A2 COL9A1 COL11A1
25 multiple epiphyseal dysplasia, autosomal dominant 9.3 MATN3 COL9A3 COL9A2 COL9A1
26 epiphyseal dysplasia, multiple, 6 9.3 MATN3 COL9A3 COL9A2 COL9A1
27 epiphyseal dysplasia, multiple, 5 9.3 MATN3 COL9A3 COL9A2 COL9A1
28 epiphyseal dysplasia, multiple, 3 9.3 MATN3 COL9A3 COL9A2 COL9A1
29 epiphyseal dysplasia, multiple, 2 9.3 MATN3 COL9A3 COL9A2 COL9A1
30 achondrogenesis, type ib 9.3 MATN3 COL9A3 COL9A2 COL9A1
31 epiphyseal dysplasia, multiple, 1 9.3 MATN3 COL9A3 COL9A2 COL9A1
32 epiphyseal dysplasia, multiple, 4 9.3 MATN3 COL9A3 COL9A2 COL9A1
33 multiple epiphyseal dysplasia due to collagen 9 anomaly 9.3 MATN3 COL9A3 COL9A2 COL9A1
34 achondrogenesis, type ii 9.3 MATN3 COL9A1 COL27A1 COL11A2 COL11A1
35 osteochondrosis 9.2 MATN3 COL9A3 COL9A2 COL9A1
36 osteochondritis dissecans 9.2 MATN3 COL9A3 COL9A2 COL9A1
37 diastrophic dysplasia 9.2 MATN3 COL9A3 COL9A2 COL9A1
38 pseudoachondroplasia 9.2 MATN3 COL9A3 COL9A2 COL9A1
39 autosomal recessive stickler syndrome 9.2 COL9A3 COL9A2 COL9A1 COL11A2 COL11A1
40 vitreous syneresis 9.2 COL9A3 COL9A2 COL9A1 COL11A2 COL11A1
41 marshall syndrome 9.2 COL9A3 COL9A2 COL9A1 COL11A2 COL11A1
42 spinal stenosis 9.2 COL9A3 COL9A2 COL9A1 COL11A2 COL11A1
43 spondyloepiphyseal dysplasia with congenital joint dislocations 9.2 COL9A3 COL9A2 COL9A1 COL11A2 COL11A1
44 spondyloepiphyseal dysplasia congenita 9.1 MATN3 COL9A3 COL9A2 COL9A1 COL11A2
45 bone development disease 9.1 MATN3 COL9A3 COL9A2 COL9A1 COL11A2
46 kniest dysplasia 9.0 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2 COL11A1
47 achondrogenesis 8.9 MATN3 COL9A3 COL9A2 COL9A1 COL11A2 COL11A1
48 multiple epiphyseal dysplasia 8.9 MATN3 COL9A3 COL9A2 COL9A1 COL11A2 COL11A1
49 stickler syndrome 8.7 MATN3 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2
50 odontochondrodysplasia 8.7 MATN3 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2

Graphical network of the top 20 diseases related to Fibrochondrogenesis 1:



Diseases related to Fibrochondrogenesis 1

Symptoms & Phenotypes for Fibrochondrogenesis 1

Human phenotypes related to Fibrochondrogenesis 1:

31 (show all 47)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 HP:0002007
2 short neck 31 HP:0000470
3 depressed nasal bridge 31 HP:0005280
4 short nose 31 HP:0003196
5 anteverted nares 31 HP:0000463
6 cleft palate 31 HP:0000175
7 hydrops fetalis 31 HP:0001789
8 flat face 31 HP:0012368
9 low-set ears 31 HP:0000369
10 hypoplastic toenails 31 HP:0001800
11 narrow mouth 31 HP:0000160
12 clinodactyly of the 5th finger 31 HP:0004209
13 long philtrum 31 HP:0000343
14 platyspondyly 31 HP:0000926
15 proptosis 31 HP:0000520
16 malar flattening 31 HP:0000272
17 megalocornea 31 HP:0000485
18 small hand 31 HP:0200055
19 wide anterior fontanel 31 HP:0000260
20 hypoplastic fingernail 31 HP:0001804
21 omphalocele 31 HP:0001539
22 short foot 31 HP:0001773
23 short palm 31 HP:0004279
24 hypoplastic scapulae 31 HP:0000882
25 hypoplastic ischia 31 HP:0003175
26 thin ribs 31 HP:0000883
27 rhizomelia 31 HP:0008905
28 thoracic hypoplasia 31 HP:0005257
29 protuberant abdomen 31 HP:0001538
30 broad long bones 31 HP:0005622
31 short long bone 31 HP:0003026
32 fibular hypoplasia 31 HP:0003038
33 camptodactyly 31 HP:0012385
34 abnormality of the pinna 31 HP:0000377
35 short ribs 31 HP:0000773
36 anterior rib cupping 31 HP:0000907
37 dumbbell-shaped long bone 31 HP:0000947
38 patent foramen ovale 31 HP:0001655
39 joint contracture of the hand 31 HP:0009473
40 long clavicles 31 HP:0000890
41 thin clavicles 31 HP:0006645
42 widely patent coronal suture 31 HP:0005442
43 broad ischia 31 HP:0100865
44 narrow greater sciatic notch 31 HP:0003375
45 posterior rib cupping 31 HP:0000922
46 widely patent sagittal suture 31 HP:0005476
47 posterior vertebral hypoplasia 31 HP:0008451

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
frontal bossing
long philtrum
round, flat face

Head And Neck Nose:
anteverted nares
flat nasal bridge
hypoplastic nose

Head And Neck Mouth:
cleft palate
microstomia

Skin Nails Hair Nails:
hypoplastic toenails
hypoplastic fingernails

Abdomen External Features:
omphalocele
protuberant abdomen

Cardiovascular Heart:
patent foramen ovale

Skeletal Limbs:
rhizomelic limb shortening
short fibulae
short, broad dumbbell-shaped tubular bones with irregular metaphyses

Chest Ribs Sternum Clavicles And Scapulae:
short, thin ribs
small scapulae
anterior and posterior rib cupping
long, thin clavicles

Skeletal Pelvis:
narrow sacrosciatic notches
broad, hypoplastic ischia
ovoid ilia
irregular, flattened acetabula with medial spikes

Chest External Features:
small chest

Head And Neck Eyes:
protuberant eyes
large corneae

Head And Neck Neck:
short neck

Growth Height:
short stature
rhizomelic dwarfism

Head And Neck Ears:
low-set ears
malformed ears

Skeletal Spine:
platyspondyly
posterior vertebral hypoplasia
sagittal cleft

Skeletal Hands:
camptodactyly
fifth finger clinodactyly
small hands

Skeletal Skull:
widely patent coronal suture
widely patent sagittal suture

Prenatal Manifestations Delivery:
stillborn

Skeletal Feet:
small feet

Prenatal Manifestations:
hydrops

Head And Neck Head:
large open anterior fontanel
normal head size

Laboratory Abnormalities:
disorganized growth plate cartilage

Clinical features from OMIM®:

228520 (Updated 05-Apr-2021)

UMLS symptoms related to Fibrochondrogenesis 1:


edema

GenomeRNAi Phenotypes related to Fibrochondrogenesis 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.02 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3

MGI Mouse Phenotypes related to Fibrochondrogenesis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.55 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3
2 limbs/digits/tail MP:0005371 9.35 COL11A1 COL27A1 COL9A1 COL9A2 MATN3
3 skeleton MP:0005390 9.17 COL11A1 COL11A2 COL27A1 COL9A1 COL9A2 FGFRL1

Drugs & Therapeutics for Fibrochondrogenesis 1

Search Clinical Trials , NIH Clinical Center for Fibrochondrogenesis 1

Genetic Tests for Fibrochondrogenesis 1

Genetic tests related to Fibrochondrogenesis 1:

# Genetic test Affiliating Genes
1 Fibrochondrogenesis 1 29 COL11A1

Anatomical Context for Fibrochondrogenesis 1

MalaCards organs/tissues related to Fibrochondrogenesis 1:

40
Bone

Publications for Fibrochondrogenesis 1

Articles related to Fibrochondrogenesis 1:

# Title Authors PMID Year
1
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. 6 57
21035103 2010
2
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. 6
25240749 2014
3
Two sibs with fibrochondrogenesis. 57
15150788 2004
4
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. 6
10486316 1999
5
Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype. 57
9475607 1998
6
A new case of fibrochondrogenesis from Spain. 57
8733059 1996
7
Fibrochondrogenesis in male twins at 24 weeks gestation. 57
2012139 1991
8
Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology. 57
6507478 1984
9
Fibrochondrogenesis: radiologic and histologic studies. 57
6507479 1984
10
[Fibrochondrogenesis]. 57
749746 1978

Variations for Fibrochondrogenesis 1

ClinVar genetic disease variations for Fibrochondrogenesis 1:

6 (show top 50) (show all 193)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL11A1 NM_001854.4(COL11A1):c.1786dup (p.Ala596fs) Duplication Pathogenic 29646 rs730882190 GRCh37: 1:103471628-103471629
GRCh38: 1:103006072-103006073
2 COL11A1 NM_001854.4(COL11A1):c.3241G>C (p.Gly1081Arg) SNV Pathogenic 29647 rs397514455 GRCh37: 1:103412440-103412440
GRCh38: 1:102946884-102946884
3 COL11A1 NM_001854.4(COL11A1):c.2350G>C (p.Gly784Arg) SNV Pathogenic 29648 rs387906611 GRCh37: 1:103455118-103455118
GRCh38: 1:102989562-102989562
4 COL11A1 NM_001854.4(COL11A1):c.3943G>T (p.Gly1315Ter) SNV Pathogenic 29649 rs1557812993 GRCh37: 1:103379943-103379943
GRCh38: 1:102914387-102914387
5 COL11A1 NM_001854.4(COL11A1):c.3978+1G>A SNV Pathogenic 801530 rs1570712889 GRCh37: 1:103379907-103379907
GRCh38: 1:102914351-102914351
6 COL11A1 NM_001854.4(COL11A1):c.3168+2_3168+12del Deletion Pathogenic 801531 rs1570877567 GRCh37: 1:103427410-103427420
GRCh38: 1:102961854-102961864
7 COL11A1 NM_001854.4(COL11A1):c.1245+1G>A SNV Pathogenic 1029384 GRCh37: 1:103488297-103488297
GRCh38: 1:103022741-103022741
8 COL11A1 NM_001854.4(COL11A1):c.3816+2dup Duplication Pathogenic 1032776 GRCh37: 1:103381184-103381185
GRCh38: 1:102915628-102915629
9 COL11A1 NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter) SNV Likely pathogenic 973212 GRCh37: 1:103488375-103488375
GRCh38: 1:103022819-103022819
10 COL11A1 NM_001854.4(COL11A1):c.3384+13T>G SNV Conflicting interpretations of pathogenicity 876730 GRCh37: 1:103405870-103405870
GRCh38: 1:102940314-102940314
11 COL11A1 NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) SNV Uncertain significance 197964 rs151249006 GRCh37: 1:103377744-103377744
GRCh38: 1:102912188-102912188
12 COL11A1 NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu) SNV Uncertain significance 393244 rs143531636 GRCh37: 1:103352503-103352503
GRCh38: 1:102886947-102886947
13 COL11A1 NM_001854.4(COL11A1):c.898-185T>C SNV Uncertain significance 1032777 GRCh37: 1:103491354-103491354
GRCh38: 1:103025798-103025798
14 COL11A1 NM_001854.4(COL11A1):c.5288A>G (p.Tyr1763Cys) SNV Uncertain significance 1029386 GRCh37: 1:103343708-103343708
GRCh38: 1:102878152-102878152
15 COL11A1 NM_001854.4(COL11A1):c.4087-4A>G SNV Uncertain significance 514876 rs137999403 GRCh37: 1:103364554-103364554
GRCh38: 1:102898998-102898998
16 COL11A1 NM_001854.4(COL11A1):c.1926A>G (p.Arg642=) SNV Uncertain significance 681382 rs142506188 GRCh37: 1:103470018-103470018
GRCh38: 1:103004462-103004462
17 COL11A1 NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) SNV Uncertain significance 198777 rs144884147 GRCh37: 1:103488522-103488522
GRCh38: 1:103022966-103022966
18 COL11A1 NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=) SNV Uncertain significance 291518 rs768553239 GRCh37: 1:103405970-103405970
GRCh38: 1:102940414-102940414
19 COL11A2 NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) SNV Uncertain significance 282710 rs151319255 GRCh37: 6:33132638-33132638
GRCh38: 6:33164861-33164861
20 COL11A1 NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val) SNV Uncertain significance 284750 rs202065765 GRCh37: 1:103345240-103345240
GRCh38: 1:102879684-102879684
21 COL11A1 NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) SNV Uncertain significance 291505 rs200496207 GRCh37: 1:103364248-103364248
GRCh38: 1:102898692-102898692
22 COL11A1 NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) SNV Uncertain significance 392007 rs143206624 GRCh37: 1:103352419-103352419
GRCh38: 1:102886863-102886863
23 COL11A1 NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) SNV Uncertain significance 291548 rs141978499 GRCh37: 1:103544374-103544374
GRCh38: 1:103078818-103078818
24 COL11A1 NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr) SNV Uncertain significance 876927 GRCh37: 1:103544224-103544224
GRCh38: 1:103078668-103078668
25 COL11A1 NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) SNV Uncertain significance 93968 rs56230601 GRCh37: 1:103548420-103548420
GRCh38: 1:103082864-103082864
26 COL11A1 NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln) SNV Uncertain significance 873960 GRCh37: 1:103453238-103453238
GRCh38: 1:102987682-102987682
27 COL11A1 NM_001854.4(COL11A1):c.3277-13A>C SNV Uncertain significance 258457 rs371455495 GRCh37: 1:103406003-103406003
GRCh38: 1:102940447-102940447
28 COL11A1 NM_001854.4(COL11A1):c.*953G>C SNV Uncertain significance 291480 rs886044970 GRCh37: 1:103342622-103342622
GRCh38: 1:102877066-102877066
29 COL11A1 NM_001854.4(COL11A1):c.1180A>G (p.Thr394Ala) SNV Uncertain significance 291537 rs538837278 GRCh37: 1:103488363-103488363
GRCh38: 1:103022807-103022807
30 COL11A1 NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala) SNV Uncertain significance 291499 rs140954784 GRCh37: 1:103354147-103354147
GRCh38: 1:102888591-102888591
31 COL11A1 NM_001854.4(COL11A1):c.*1301T>C SNV Uncertain significance 876500 GRCh37: 1:103342274-103342274
GRCh38: 1:102876718-102876718
32 COL11A1 NM_001854.4(COL11A1):c.5275-9A>C SNV Uncertain significance 876585 GRCh37: 1:103343730-103343730
GRCh38: 1:102878174-102878174
33 COL11A1 NM_001854.4(COL11A1):c.5275-15T>C SNV Uncertain significance 876586 GRCh37: 1:103343736-103343736
GRCh38: 1:102878180-102878180
34 COL11A1 NM_001854.4(COL11A1):c.5223G>C (p.Glu1741Asp) SNV Uncertain significance 876587 GRCh37: 1:103345290-103345290
GRCh38: 1:102879734-102879734
35 COL11A1 NM_001854.4(COL11A1):c.3424G>A (p.Asp1142Asn) SNV Uncertain significance 876729 GRCh37: 1:103404605-103404605
GRCh38: 1:102939049-102939049
36 COL11A1 NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu) SNV Uncertain significance 876781 GRCh37: 1:103444283-103444283
GRCh38: 1:102978727-102978727
37 COL11A1 NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) SNV Uncertain significance 198474 rs183130583 GRCh37: 1:103491102-103491102
GRCh38: 1:103025546-103025546
38 COL11A1 NM_001854.4(COL11A1):c.489-4T>A SNV Uncertain significance 728988 rs371357098 GRCh37: 1:103540340-103540340
GRCh38: 1:103074784-103074784
39 COL11A1 NM_001854.4(COL11A1):c.456C>T (p.Pro152=) SNV Uncertain significance 731001 rs751512442 GRCh37: 1:103544246-103544246
GRCh38: 1:103078690-103078690
40 COL11A1 NM_001854.4(COL11A1):c.-115C>T SNV Uncertain significance 876983 GRCh37: 1:103573849-103573849
GRCh38: 1:103108293-103108293
41 COL11A1 NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu) SNV Uncertain significance 291512 rs767905237 GRCh37: 1:103381215-103381215
GRCh38: 1:102915659-102915659
42 COL11A1 NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu) SNV Uncertain significance 291498 rs558548172 GRCh37: 1:103352594-103352594
GRCh38: 1:102887038-102887038
43 COL11A1 NM_001854.4(COL11A1):c.35G>C (p.Arg12Pro) SNV Uncertain significance 291553 rs767496065 GRCh37: 1:103573700-103573700
GRCh38: 1:103108144-103108144
44 COL11A1 NM_001854.4(COL11A1):c.2143-15T>C SNV Uncertain significance 291525 rs886044979 GRCh37: 1:103463934-103463934
GRCh38: 1:102998378-102998378
45 COL11A1 NM_001854.4(COL11A1):c.4357-23dup Duplication Uncertain significance 291502 rs748850423 GRCh37: 1:103355133-103355134
GRCh38: 1:102889577-102889578
46 COL11A1 NM_001854.4(COL11A1):c.2655+3A>G SNV Uncertain significance 291524 rs886044978 GRCh37: 1:103444613-103444613
GRCh38: 1:102979057-102979057
47 COL11A1 NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly) SNV Uncertain significance 291542 rs199539580 GRCh37: 1:103491824-103491824
GRCh38: 1:103026268-103026268
48 COL11A1 NM_001854.4(COL11A1):c.*240A>G SNV Uncertain significance 291489 rs886044972 GRCh37: 1:103343335-103343335
GRCh38: 1:102877779-102877779
49 COL11A1 NM_001854.4(COL11A1):c.4303-22dup Duplication Uncertain significance 291503 rs35232764 GRCh37: 1:103356072-103356073
GRCh38: 1:102890516-102890517
50 COL11A1 NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser) SNV Uncertain significance 291526 rs201849355 GRCh37: 1:103468326-103468326
GRCh38: 1:103002770-103002770

UniProtKB/Swiss-Prot genetic disease variations for Fibrochondrogenesis 1:

72
# Symbol AA change Variation ID SNP ID
1 COL11A1 p.Gly796Arg VAR_065904
2 COL11A1 p.Gly1042Arg VAR_065905

Expression for Fibrochondrogenesis 1

Search GEO for disease gene expression data for Fibrochondrogenesis 1.

Pathways for Fibrochondrogenesis 1

Pathways related to Fibrochondrogenesis 1 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.43 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2 COL11A1
2
Show member pathways
13.05 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2 COL11A1
3
Show member pathways
12.69 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2 COL11A1
4
Show member pathways
12.57 COL9A3 COL9A2 COL9A1 COL11A2 COL11A1
5
Show member pathways
12.37 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2 COL11A1
6
Show member pathways
11.83 COL9A3 COL9A2 COL9A1
7
Show member pathways
11.82 MATN3 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2
8 11.11 COL9A3 COL9A2 COL9A1
9 11.01 COL9A3 COL9A1
10 11.01 MATN3 COL9A3 COL9A2 COL9A1
11 10.64 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2 COL11A1

GO Terms for Fibrochondrogenesis 1

Cellular components related to Fibrochondrogenesis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.95 MATN3 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2
2 extracellular space GO:0005615 9.91 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2 COL11A1
3 collagen-containing extracellular matrix GO:0062023 9.8 MATN3 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2
4 endoplasmic reticulum lumen GO:0005788 9.7 MATN3 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2
5 collagen type IX trimer GO:0005594 9.5 COL9A3 COL9A2 COL9A1
6 extracellular matrix GO:0031012 9.5 MATN3 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2
7 basement membrane GO:0005604 9.46 COL9A3 COL9A1
8 collagen type XI trimer GO:0005592 9.37 COL11A2 COL11A1
9 collagen trimer GO:0005581 9.1 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2 COL11A1

Biological processes related to Fibrochondrogenesis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.33 MATN3 COL9A2 COL11A2
2 collagen fibril organization GO:0030199 9.32 COL11A2 COL11A1
3 skeletal system morphogenesis GO:0048705 9.26 COL11A2 COL11A1
4 extracellular matrix organization GO:0030198 9.17 MATN3 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2
5 cartilage development GO:0051216 9.13 MATN3 COL11A2 COL11A1

Molecular functions related to Fibrochondrogenesis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.5 MATN3 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2
2 protein binding, bridging GO:0030674 9.16 COL11A2 COL11A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.1 COL9A3 COL9A2 COL9A1 COL27A1 COL11A2 COL11A1

Sources for Fibrochondrogenesis 1

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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