FBCG1
MCID: FBR029
MIFTS: 23

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 57 75 73
Fbcg1 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
fibrochondrogenesis 1:
Mortality/Aging 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)

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). Affiliated tissues include bone and eye, and related phenotypes are malar flattening and low-set ears

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 fibrochondrogenesis 11.2
2 fibrochondrogenesis 2 11.1

Symptoms & Phenotypes for Fibrochondrogenesis 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
malformed ears

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

Growth Height:
short stature
rhizomelic dwarfism

Skeletal Spine:
platyspondyly
posterior vertebral hypoplasia
sagittal cleft

Abdomen External Features:
omphalocele
protuberant abdomen

Cardiovascular Heart:
patent foramen ovale

Prenatal Manifestations Delivery:
stillborn

Skeletal Feet:
small feet

Prenatal Manifestations:
hydrops

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

Skeletal Skull:
widely patent coronal suture
widely patent sagittal suture

Head And Neck Neck:
short neck

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

Skeletal Hands:
camptodactyly
fifth finger clinodactyly
small hands

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

Laboratory Abnormalities:
disorganized growth plate cartilage


Clinical features from OMIM:

228520

Human phenotypes related to Fibrochondrogenesis 1:

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

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

Anatomical Context for Fibrochondrogenesis 1

MalaCards organs/tissues related to Fibrochondrogenesis 1:

41
Bone, Eye

Publications for Fibrochondrogenesis 1

Variations for Fibrochondrogenesis 1

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

75
# Symbol AA change Variation ID SNP ID
1 COL11A1 p.Gly796Arg VAR_065904
2 COL11A1 p.Gly1042Arg VAR_065905

ClinVar genetic disease variations for Fibrochondrogenesis 1:

6 (show top 50) (show all 439)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A1 NM_001854.3(COL11A1): c.4603T> C (p.Ser1535Pro) single nucleotide variant Benign rs1676486 GRCh37 Chromosome 1, 103354138: 103354138
2 COL11A1 NM_001854.3(COL11A1): c.4603T> C (p.Ser1535Pro) single nucleotide variant Benign rs1676486 GRCh38 Chromosome 1, 102888582: 102888582
3 COL11A1 NM_001854.3(COL11A1): c.1786dupG (p.Ala596Glyfs) duplication Pathogenic rs730882190 GRCh37 Chromosome 1, 103471629: 103471629
4 COL11A1 NM_001854.3(COL11A1): c.1786dupG (p.Ala596Glyfs) duplication Pathogenic rs730882190 GRCh38 Chromosome 1, 103006073: 103006073
5 COL11A1 NM_080629.2(COL11A1): c.3277G> C (p.Gly1093Arg) single nucleotide variant Pathogenic rs397514455 GRCh37 Chromosome 1, 103412440: 103412440
6 COL11A1 NM_080629.2(COL11A1): c.3277G> C (p.Gly1093Arg) single nucleotide variant Pathogenic rs397514455 GRCh38 Chromosome 1, 102946884: 102946884
7 COL11A1 NM_080629.2(COL11A1): c.2386G> C (p.Gly796Arg) single nucleotide variant Pathogenic rs387906611 GRCh37 Chromosome 1, 103455118: 103455118
8 COL11A1 NM_080629.2(COL11A1): c.2386G> C (p.Gly796Arg) single nucleotide variant Pathogenic rs387906611 GRCh38 Chromosome 1, 102989562: 102989562
9 COL11A1 COL11A1, GLY1315TER undetermined variant Pathogenic
10 COL11A2 NM_080680.2(COL11A2): c.1179+10G> A single nucleotide variant Benign rs2744507 GRCh37 Chromosome 6, 33148878: 33148878
11 COL11A2 NM_080680.2(COL11A2): c.1179+10G> A single nucleotide variant Benign rs2744507 GRCh38 Chromosome 6, 33181101: 33181101
12 COL11A2 NM_080680.2(COL11A2): c.1360-7A> C single nucleotide variant Benign rs3129201 GRCh37 Chromosome 6, 33147589: 33147589
13 COL11A2 NM_080680.2(COL11A2): c.1360-7A> C single nucleotide variant Benign rs3129201 GRCh38 Chromosome 6, 33179812: 33179812
14 COL11A2 NM_080680.2(COL11A2): c.1615C> T (p.Arg539Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs145499142 GRCh37 Chromosome 6, 33146747: 33146747
15 COL11A2 NM_080680.2(COL11A2): c.1615C> T (p.Arg539Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs145499142 GRCh38 Chromosome 6, 33178970: 33178970
16 COL11A2 NM_080680.2(COL11A2): c.1782C> T (p.Asp594=) single nucleotide variant Benign/Likely benign rs41266697 GRCh37 Chromosome 6, 33146121: 33146121
17 COL11A2 NM_080680.2(COL11A2): c.1782C> T (p.Asp594=) single nucleotide variant Benign/Likely benign rs41266697 GRCh38 Chromosome 6, 33178344: 33178344
18 COL11A2 NM_080680.2(COL11A2): c.2136A> T (p.Gly712=) single nucleotide variant Benign rs1799908 GRCh37 Chromosome 6, 33144243: 33144243
19 COL11A2 NM_080680.2(COL11A2): c.2136A> T (p.Gly712=) single nucleotide variant Benign rs1799908 GRCh38 Chromosome 6, 33176466: 33176466
20 COL11A2 NM_080680.2(COL11A2): c.2520G> A (p.Arg840=) single nucleotide variant Benign/Likely benign rs117237998 GRCh37 Chromosome 6, 33141797: 33141797
21 COL11A2 NM_080680.2(COL11A2): c.2520G> A (p.Arg840=) single nucleotide variant Benign/Likely benign rs117237998 GRCh38 Chromosome 6, 33174020: 33174020
22 COL11A2 NM_080680.2(COL11A2): c.2628+3G> A single nucleotide variant Benign rs970901 GRCh37 Chromosome 6, 33141475: 33141475
23 COL11A2 NM_080680.2(COL11A2): c.2628+3G> A single nucleotide variant Benign rs970901 GRCh38 Chromosome 6, 33173698: 33173698
24 COL11A2 NM_080680.2(COL11A2): c.2681C> T (p.Pro894Leu) single nucleotide variant Benign rs2855430 GRCh37 Chromosome 6, 33141280: 33141280
25 COL11A2 NM_080680.2(COL11A2): c.2681C> T (p.Pro894Leu) single nucleotide variant Benign rs2855430 GRCh38 Chromosome 6, 33173503: 33173503
26 COL11A2 NM_080680.2(COL11A2): c.2700T> C (p.Asp900=) single nucleotide variant Benign rs2229785 GRCh37 Chromosome 6, 33141161: 33141161
27 COL11A2 NM_080680.2(COL11A2): c.2700T> C (p.Asp900=) single nucleotide variant Benign rs2229785 GRCh38 Chromosome 6, 33173384: 33173384
28 COL11A2 NM_080680.2(COL11A2): c.3150+15A> C single nucleotide variant Benign rs2855436 GRCh37 Chromosome 6, 33139475: 33139475
29 COL11A2 NM_080680.2(COL11A2): c.3150+15A> C single nucleotide variant Benign rs2855436 GRCh38 Chromosome 6, 33171698: 33171698
30 COL11A2 NM_080680.2(COL11A2): c.3174G> A (p.Pro1058=) single nucleotide variant Benign rs1799910 GRCh37 Chromosome 6, 33139328: 33139328
31 COL11A2 NM_080680.2(COL11A2): c.3174G> A (p.Pro1058=) single nucleotide variant Benign rs1799910 GRCh38 Chromosome 6, 33171551: 33171551
32 COL11A2 NM_080680.2(COL11A2): c.3313-11C> T single nucleotide variant Benign rs2855437 GRCh37 Chromosome 6, 33138955: 33138955
33 COL11A2 NM_080680.2(COL11A2): c.3313-11C> T single nucleotide variant Benign rs2855437 GRCh38 Chromosome 6, 33171178: 33171178
34 COL11A2 NM_080680.2(COL11A2): c.3946C> A (p.Pro1316Thr) single nucleotide variant Benign rs2229784 GRCh37 Chromosome 6, 33136310: 33136310
35 COL11A2 NM_080680.2(COL11A2): c.3946C> A (p.Pro1316Thr) single nucleotide variant Benign rs2229784 GRCh38 Chromosome 6, 33168533: 33168533
36 COL11A2 NM_080680.2(COL11A2): c.5165C> T (p.Pro1722Leu) single nucleotide variant Benign/Likely benign rs2229792 GRCh37 Chromosome 6, 33131501: 33131501
37 COL11A2 NM_080680.2(COL11A2): c.5165C> T (p.Pro1722Leu) single nucleotide variant Benign/Likely benign rs2229792 GRCh38 Chromosome 6, 33163724: 33163724
38 COL11A2 NM_080680.2(COL11A2): c.826G> A (p.Glu276Lys) single nucleotide variant Benign rs9277934 GRCh37 Chromosome 6, 33153528: 33153528
39 COL11A2 NM_080680.2(COL11A2): c.826G> A (p.Glu276Lys) single nucleotide variant Benign rs9277934 GRCh38 Chromosome 6, 33185751: 33185751
40 COL11A2 NM_080680.2(COL11A2): c.877-4T> A single nucleotide variant Benign rs1799907 GRCh37 Chromosome 6, 33152835: 33152835
41 COL11A2 NM_080680.2(COL11A2): c.877-4T> A single nucleotide variant Benign rs1799907 GRCh38 Chromosome 6, 33185058: 33185058
42 COL11A1 NM_001854.3(COL11A1): c.1872A> G (p.Pro624=) single nucleotide variant Benign/Likely benign rs111841420 GRCh37 Chromosome 1, 103470191: 103470191
43 COL11A1 NM_001854.3(COL11A1): c.1872A> G (p.Pro624=) single nucleotide variant Benign/Likely benign rs111841420 GRCh38 Chromosome 1, 103004635: 103004635
44 COL11A1 NM_001854.3(COL11A1): c.215C> G (p.Thr72Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs56230601 GRCh37 Chromosome 1, 103548420: 103548420
45 COL11A1 NM_001854.3(COL11A1): c.215C> G (p.Thr72Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs56230601 GRCh38 Chromosome 1, 103082864: 103082864
46 COL11A1 NM_001854.3(COL11A1): c.660T> C (p.Ile220=) single nucleotide variant Benign rs71664966 GRCh37 Chromosome 1, 103496792: 103496792
47 COL11A1 NM_001854.3(COL11A1): c.660T> C (p.Ile220=) single nucleotide variant Benign rs71664966 GRCh38 Chromosome 1, 103031236: 103031236
48 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh37 Chromosome 6, 33131451: 33131451
49 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh38 Chromosome 6, 33163674: 33163674
50 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh37 Chromosome 6, 33132230: 33132230

Expression for Fibrochondrogenesis 1

Search GEO for disease gene expression data for Fibrochondrogenesis 1.

Pathways for Fibrochondrogenesis 1

GO Terms for Fibrochondrogenesis 1

Sources for Fibrochondrogenesis 1

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