MCID: FBR029
MIFTS: 20

Fibrochondrogenesis 1 malady

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

Aliases & Classifications for Fibrochondrogenesis 1

About this section

Aliases & Descriptions for Fibrochondrogenesis 1:

Name: Fibrochondrogenesis 1 49 22 67 65
 
Fbcg1 22 67

Characteristics:

HPO:

61
fibrochondrogenesis 1:
Mortality/Aging: stillbirth
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 228520
MeSH36 D010009
UMLS65 C3278138

Summaries for Fibrochondrogenesis 1

About this section
OMIM:49 Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by a... (228520) more...

MalaCards based summary: Fibrochondrogenesis 1, also known as fbcg1, is related to fibrochondrogenesis, and has symptoms including small hand, broad ischia and camptodactyly. An important gene associated with Fibrochondrogenesis 1 is COL11A1 (Collagen Type XI Alpha 1). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:67 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

About this section

Diseases in the Fibrochondrogenesis family:

fibrochondrogenesis 1 Fibrochondrogenesis 2

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

idRelated DiseaseScoreTop Affiliating Genes
1fibrochondrogenesis11.0

Symptoms for Fibrochondrogenesis 1

About this section

Symptoms by clinical synopsis from OMIM:

228520

Clinical features from OMIM:

228520

HPO human phenotypes related to Fibrochondrogenesis 1:

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

Drugs & Therapeutics for Fibrochondrogenesis 1

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fibrochondrogenesis 1

Genetic Tests for Fibrochondrogenesis 1

About this section

Genetic tests related to Fibrochondrogenesis 1:

id Genetic test Affiliating Genes
1 Fibrochondrogenesis 122 COL11A1

Anatomical Context for Fibrochondrogenesis 1

About this section

MalaCards organs/tissues related to Fibrochondrogenesis 1:

33
Bone

Animal Models for Fibrochondrogenesis 1 or affiliated genes

About this section

Publications for Fibrochondrogenesis 1

About this section

Variations for Fibrochondrogenesis 1

About this section

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

67
id Symbol AA change Variation ID SNP ID
1COL11A1p.Gly796ArgVAR_065904
2COL11A1p.Gly1042ArgVAR_065905

Clinvar genetic disease variations for Fibrochondrogenesis 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL11A1NM_001854.3(COL11A1): c.1786dupG (p.Ala596Glyfs)duplicationPathogenicrs730882190GRCh37Chr 1, 103471629: 103471629
2COL11A1NM_080629.2(COL11A1): c.3277G> C (p.Gly1093Arg)single nucleotide variantPathogenicrs397514455GRCh37Chr 1, 103412440: 103412440
3COL11A1NM_080629.2(COL11A1): c.2386G> C (p.Gly796Arg)single nucleotide variantPathogenicrs387906611GRCh37Chr 1, 103455118: 103455118
4COL11A1COL11A1, GLY1315TERundetermined variantPathogenic

Expression for genes affiliated with Fibrochondrogenesis 1

About this section
Search GEO for disease gene expression data for Fibrochondrogenesis 1.

Pathways for genes affiliated with Fibrochondrogenesis 1

About this section

GO Terms for genes affiliated with Fibrochondrogenesis 1

About this section

Sources for Fibrochondrogenesis 1

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet