MCID: FBR030
MIFTS: 19

Fibrochondrogenesis 2

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

Aliases & Classifications for Fibrochondrogenesis 2

MalaCards integrated aliases for Fibrochondrogenesis 2:

Name: Fibrochondrogenesis 2 57 75 29 13 6 73
Fbcg2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant


HPO:

32

Classifications:



External Ids:

OMIM 57 614524
MedGen 42 C3281128
MeSH 44 D010009
UMLS 73 C3281128

Summaries for Fibrochondrogenesis 2

OMIM : 57 Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012). For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 (228520). (614524)

MalaCards based summary : Fibrochondrogenesis 2, also known as fbcg2, is related to fibrochondrogenesis. An important gene associated with Fibrochondrogenesis 2 is COL11A2 (Collagen Type XI Alpha 2 Chain). Affiliated tissues include bone, and related phenotypes are malar flattening and short nose

UniProtKB/Swiss-Prot : 75 Fibrochondrogenesis 2: A severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia.

Related Diseases for Fibrochondrogenesis 2

Diseases in the Fibrochondrogenesis family:

Fibrochondrogenesis 1 Fibrochondrogenesis 2

Diseases related to Fibrochondrogenesis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fibrochondrogenesis 11.0

Symptoms & Phenotypes for Fibrochondrogenesis 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
anteverted nares
small nose

Skeletal Spine:
platyspondyly
posteriorly narrowed vertebral bodies
delayed ossification of the cervical vertebral bodies (in some patients)

Chest External Features:
bell-shaped thorax
small thorax

Abdomen External Features:
protuberant abdomen

Respiratory Lung:
respiratory compromise due to small size of thorax

Head And Neck Face:
micrognathia
midface hypoplasia

Skeletal Pelvis:
hypoplastic ischia
hypoplastic ilia
hypoplastic pubis
delayed ossification of ischia
delayed ossification of pubis

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
metaphyseal cupping of ribs

Skeletal Limbs:
widened metaphyses
shortening of the long bones

Skeletal Skull:
relatively large skull


Clinical features from OMIM:

614524

Human phenotypes related to Fibrochondrogenesis 2:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 short nose 32 HP:0003196
3 anteverted nares 32 HP:0000463
4 micrognathia 32 HP:0000347
5 platyspondyly 32 HP:0000926
6 midface retrusion 32 HP:0011800
7 thoracic hypoplasia 32 HP:0005257
8 hypoplastic pubic bone 32 HP:0003173
9 hypoplastic ischia 32 HP:0003175
10 bell-shaped thorax 32 HP:0001591
11 hypoplastic ilia 32 HP:0000946
12 short ribs 32 HP:0000773
13 protuberant abdomen 32 HP:0001538
14 metaphyseal widening 32 HP:0003016

Drugs & Therapeutics for Fibrochondrogenesis 2

Search Clinical Trials , NIH Clinical Center for Fibrochondrogenesis 2

Genetic Tests for Fibrochondrogenesis 2

Genetic tests related to Fibrochondrogenesis 2:

# Genetic test Affiliating Genes
1 Fibrochondrogenesis 2 29 COL11A2

Anatomical Context for Fibrochondrogenesis 2

MalaCards organs/tissues related to Fibrochondrogenesis 2:

41
Bone

Publications for Fibrochondrogenesis 2

Variations for Fibrochondrogenesis 2

ClinVar genetic disease variations for Fibrochondrogenesis 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A2 COL11A2, 9-BP DEL, NT2899 deletion Pathogenic
2 COL11A2 COL11A2, IVS18, 1-BP INS, +3 insertion Pathogenic
3 COL11A2 NM_080680.2(COL11A2): c.2081_2085delGGAAGinsA (p.Gly694Glufs) indel Pathogenic rs886044584 GRCh37 Chromosome 6, 33144528: 33144532
4 COL11A2 NM_080680.2(COL11A2): c.2081_2085delGGAAGinsA (p.Gly694Glufs) indel Pathogenic rs886044584 GRCh38 Chromosome 6, 33176751: 33176755
5 COL11A2 NM_080680.2(COL11A2): c.1719+3delGinsGG indel Likely pathogenic GRCh37 Chromosome 6, 33146453: 33146453
6 COL11A2 NM_080680.2(COL11A2): c.1719+3delGinsGG indel Likely pathogenic GRCh38 Chromosome 6, 33178676: 33178676
7 COL11A2 NM_080680.2(COL11A2): c.966delCinsCC (p.Thr323Hisfs) indel Pathogenic GRCh37 Chromosome 6, 33152075: 33152075
8 COL11A2 NM_080680.2(COL11A2): c.966delCinsCC (p.Thr323Hisfs) indel Pathogenic GRCh38 Chromosome 6, 33184298: 33184298

Expression for Fibrochondrogenesis 2

Search GEO for disease gene expression data for Fibrochondrogenesis 2.

Pathways for Fibrochondrogenesis 2

GO Terms for Fibrochondrogenesis 2

Sources for Fibrochondrogenesis 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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