FBCG1
MCID: FBR029
MIFTS: 40

Fibrochondrogenesis 1 (FBCG1)

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

Aliases & Classifications for Fibrochondrogenesis 1

MalaCards integrated aliases for Fibrochondrogenesis 1:

Name: Fibrochondrogenesis 1 56 12 73 29 6 71
Fbcg1 56 73
Fibrochondrogenesis, Type 1 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
fibrochondrogenesis 1:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fibrochondrogenesis 1

OMIM : 56 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)

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 Phospholipase-C Pathway and Focal Adhesion. Affiliated tissues include bone and eye, and related phenotypes are depressed nasal bridge 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 : 73 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

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 depressed nasal bridge 31 HP:0005280
2 short neck 31 HP:0000470
3 short nose 31 HP:0003196
4 anteverted nares 31 HP:0000463
5 frontal bossing 31 HP:0002007
6 cleft palate 31 HP:0000175
7 hydrops fetalis 31 HP:0001789
8 flat face 31 HP:0012368
9 narrow mouth 31 HP:0000160
10 low-set ears 31 HP:0000369
11 hypoplastic toenails 31 HP:0001800
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 rhizomelia 31 HP:0008905
26 hypoplastic ischia 31 HP:0003175
27 thin ribs 31 HP:0000883
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 joint contracture of the hand 31 HP:0009473
39 patent foramen ovale 31 HP:0001655
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:

56
Head And Neck Neck:
short neck

Growth Height:
short stature
rhizomelic dwarfism

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 Nose:
anteverted nares
flat nasal bridge
hypoplastic nose

Head And Neck Face:
frontal bossing
long philtrum
round, flat face

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

UMLS symptoms related to Fibrochondrogenesis 1:


edema

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, Eye

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. 56 6
21035103 2010
2
Two sibs with fibrochondrogenesis. 56
15150788 2004
3
Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype. 56
9475607 1998
4
A new case of fibrochondrogenesis from Spain. 56
8733059 1996
5
Fibrochondrogenesis in male twins at 24 weeks gestation. 56
2012139 1991
6
Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology. 56
6507478 1984
7
Fibrochondrogenesis: radiologic and histologic studies. 56
6507479 1984
8
[Fibrochondrogenesis]. 56
749746 1978

Variations for Fibrochondrogenesis 1

ClinVar genetic disease variations for Fibrochondrogenesis 1:

6 (show top 50) (show all 186) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL11A1 NM_001854.4(COL11A1):c.3978+1G>ASNV Pathogenic 801530 1:103379907-103379907 1:102914351-102914351
2 COL11A1 NM_001854.4(COL11A1):c.3168+2_3168+12deldeletion Pathogenic 801531 1:103427410-103427420 1:102961854-102961864
3 COL11A1 NM_001854.4(COL11A1):c.1786dup (p.Ala596fs)duplication Pathogenic 29646 rs730882190 1:103471628-103471629 1:103006072-103006073
4 COL11A1 NM_001854.4(COL11A1):c.3241G>C (p.Gly1081Arg)SNV Pathogenic 29647 rs397514455 1:103412440-103412440 1:102946884-102946884
5 COL11A1 NM_001854.4(COL11A1):c.2350G>C (p.Gly784Arg)SNV Pathogenic 29648 rs387906611 1:103455118-103455118 1:102989562-102989562
6 COL11A1 NM_001854.4(COL11A1):c.3943G>T (p.Gly1315Ter)SNV Pathogenic 29649 rs1557812993 1:103379943-103379943 1:102914387-102914387
7 COL11A1 NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser)SNV Conflicting interpretations of pathogenicity 93968 rs56230601 1:103548420-103548420 1:103082864-103082864
8 COL11A1 NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=)SNV Conflicting interpretations of pathogenicity 166922 rs147637674 1:103379193-103379193 1:102913637-102913637
9 COL11A1 NM_001854.4(COL11A1):c.1792-39ATG[11]short repeat Conflicting interpretations of pathogenicity 166924 rs71752747 1:103471456-103471457 1:103005900-103005901
10 COL11A1 NM_001854.4(COL11A1):c.652-18dupduplication Conflicting interpretations of pathogenicity 197736 rs36076089 1:103496805-103496806 1:103031249-103031250
11 COL11A1 NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)SNV Conflicting interpretations of pathogenicity 197911 rs150669855 1:103381192-103381192 1:102915636-102915636
12 COL11A1 NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr)SNV Conflicting interpretations of pathogenicity 197964 rs151249006 1:103377744-103377744 1:102912188-102912188
13 COL11A1 NM_001854.4(COL11A1):c.4087-4A>GSNV Conflicting interpretations of pathogenicity 514876 rs137999403 1:103364554-103364554 1:102898998-102898998
14 COL11A1 NM_001854.4(COL11A1):c.1926A>G (p.Arg642=)SNV Conflicting interpretations of pathogenicity 681382 1:103470018-103470018 1:103004462-103004462
15 COL11A1 NM_001854.4(COL11A1):c.560C>T (p.Thr187Met)SNV Conflicting interpretations of pathogenicity 735068 1:103540265-103540265 1:103074709-103074709
16 COL11A1 NM_001854.4(COL11A1):c.456C>T (p.Pro152=)SNV Conflicting interpretations of pathogenicity 731001 1:103544246-103544246 1:103078690-103078690
17 COL11A1 NM_001854.4(COL11A1):c.489-4T>ASNV Conflicting interpretations of pathogenicity 728988 1:103540340-103540340 1:103074784-103074784
18 COL11A1 NM_001854.4(COL11A1):c.924A>G (p.Glu308=)SNV Conflicting interpretations of pathogenicity 735693 1:103491143-103491143 1:103025587-103025587
19 COL11A1 NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu)SNV Conflicting interpretations of pathogenicity 876781 1:103444283-103444283 1:102978727-102978727
20 COL11A1 NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)SNV Conflicting interpretations of pathogenicity 198360 rs140250347 1:103345315-103345315 1:102879759-102879759
21 COL11A1 NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)SNV Conflicting interpretations of pathogenicity 198474 rs183130583 1:103491102-103491102 1:103025546-103025546
22 COL11A1 NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)SNV Conflicting interpretations of pathogenicity 198777 rs144884147 1:103488522-103488522 1:103022966-103022966
23 COL11A1 NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu)SNV Conflicting interpretations of pathogenicity 198019 rs55821405 1:103355059-103355059 1:102889503-102889503
24 COL11A1 NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val)SNV Conflicting interpretations of pathogenicity 284750 rs202065765 1:103345240-103345240 1:102879684-102879684
25 COL11A1 NM_001854.4(COL11A1):c.2322G>A (p.Lys774=)SNV Conflicting interpretations of pathogenicity 289407 rs140608161 1:103461438-103461438 1:102995882-102995882
26 COL11A1 NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)SNV Conflicting interpretations of pathogenicity 289661 rs143651470 1:103388907-103388907 1:102923351-102923351
27 COL11A1 NM_001854.4(COL11A1):c.*809C>TSNV Conflicting interpretations of pathogenicity 291481 rs143875783 1:103342766-103342766 1:102877210-102877210
28 COL11A1 NM_001854.4(COL11A1):c.3277-13A>CSNV Conflicting interpretations of pathogenicity 258457 rs371455495 1:103406003-103406003 1:102940447-102940447
29 COL11A1 NM_001854.4(COL11A1):c.*508G>ASNV Conflicting interpretations of pathogenicity 291487 rs3088150 1:103343067-103343067 1:102877511-102877511
30 COL11A1 NM_001854.4(COL11A1):c.*1227T>ASNV Conflicting interpretations of pathogenicity 291475 rs538679983 1:103342348-103342348 1:102876792-102876792
31 COL11A1 NM_001854.4(COL11A1):c.*579A>GSNV Conflicting interpretations of pathogenicity 291486 rs536837264 1:103342996-103342996 1:102877440-102877440
32 COL11A1 NM_001854.4(COL11A1):c.*1203G>ASNV Conflicting interpretations of pathogenicity 291476 rs190577885 1:103342372-103342372 1:102876816-102876816
33 COL11A1 NM_001854.4(COL11A1):c.5003C>T (p.Pro1668Leu)SNV Conflicting interpretations of pathogenicity 291492 rs541676352 1:103347290-103347290 1:102881734-102881734
34 COL11A1 NM_001854.4(COL11A1):c.*17A>GSNV Conflicting interpretations of pathogenicity 291491 rs190728953 1:103343558-103343558 1:102878002-102878002
35 COL11A1 NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser)SNV Conflicting interpretations of pathogenicity 291500 rs199952288 1:103354445-103354445 1:102888889-102888889
36 COL11A1 NM_001854.4(COL11A1):c.3817-25_3817-24dupduplication Conflicting interpretations of pathogenicity 291508 rs34228277 1:103380379-103380380 1:102914823-102914824
37 COL11A1 NM_001854.4(COL11A1):c.1180A>G (p.Thr394Ala)SNV Conflicting interpretations of pathogenicity 291537 rs538837278 1:103488363-103488363 1:103022807-103022807
38 COL11A1 NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=)SNV Conflicting interpretations of pathogenicity 291516 rs141432979 1:103400661-103400661 1:102935105-102935105
39 COL11A1 NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=)SNV Conflicting interpretations of pathogenicity 291518 rs768553239 1:103405970-103405970 1:102940414-102940414
40 COL11A1 NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser)SNV Conflicting interpretations of pathogenicity 291495 rs75495145 1:103352416-103352416 1:102886860-102886860
41 COL11A1 NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)SNV Conflicting interpretations of pathogenicity 291548 rs141978499 1:103544374-103544374 1:103078818-103078818
42 COL11A1 NM_001854.4(COL11A1):c.318A>G (p.Lys106=)SNV Conflicting interpretations of pathogenicity 291549 rs150668398 1:103544384-103544384 1:103078828-103078828
43 COL11A1 NM_001854.4(COL11A1):c.1899+3A>GSNV Conflicting interpretations of pathogenicity 291528 rs374676938 1:103470161-103470161 1:103004605-103004605
44 COL11A1 NM_001854.4(COL11A1):c.1630-13T>CSNV Conflicting interpretations of pathogenicity 291532 rs370547604 1:103474085-103474085 1:103008529-103008529
45 COL11A1 NM_001854.4(COL11A1):c.1896G>A (p.Met632Ile)SNV Conflicting interpretations of pathogenicity 291529 rs199835797 1:103470167-103470167 1:103004611-103004611
46 COL11A1 NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)SNV Conflicting interpretations of pathogenicity 291535 rs149558726 1:103481285-103481285 1:103015729-103015729
47 COL11A1 NM_001854.4(COL11A1):c.1506T>C (p.Asp502=)SNV Conflicting interpretations of pathogenicity 291533 rs141770006 1:103480133-103480133 1:103014577-103014577
48 COL11A1 NM_001854.4(COL11A1):c.898-15T>CSNV Conflicting interpretations of pathogenicity 291541 rs200242905 1:103491184-103491184 1:103025628-103025628
49 COL11A1 NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser)SNV Conflicting interpretations of pathogenicity 291526 rs201849355 1:103468326-103468326 1:103002770-103002770
50 COL11A1 NM_001854.4(COL11A1):c.-50A>GSNV Conflicting interpretations of pathogenicity 291554 rs369810404 1:103573784-103573784 1:103108228-103108228

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

73
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.22 COL11A2 COL11A1
2
Show member pathways
12.03 COL11A2 COL11A1
3
Show member pathways
11.68 COL11A2 COL11A1
4
Show member pathways
11.28 COL11A2 COL11A1
5 10.06 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 collagen-containing extracellular matrix GO:0062023 9.32 COL11A2 COL11A1
2 endoplasmic reticulum lumen GO:0005788 9.26 COL11A2 COL11A1
3 extracellular matrix GO:0031012 9.16 COL11A2 COL11A1
4 collagen trimer GO:0005581 8.96 COL11A2 COL11A1
5 collagen type XI trimer GO:0005592 8.62 COL11A2 COL11A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.32 COL11A2 COL11A1
2 sensory perception of sound GO:0007605 9.26 COL11A2 COL11A1
3 cartilage development GO:0051216 9.16 COL11A2 COL11A1
4 collagen fibril organization GO:0030199 8.96 COL11A2 COL11A1
5 skeletal system morphogenesis GO:0048705 8.62 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 9.16 COL11A2 COL11A1
2 protein binding, bridging GO:0030674 8.96 COL11A2 COL11A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL11A2 COL11A1

Sources for Fibrochondrogenesis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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