MCID: FBR029
MIFTS: 21

Fibrochondrogenesis 1 malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Fibrochondrogenesis 1

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Aliases & Descriptions for Fibrochondrogenesis 1:

Name: Fibrochondrogenesis 1 49 22 67
 
Fbcg1 22 67


Classifications:



External Ids:

OMIM49 228520
MeSH36 D010009

Summaries for Fibrochondrogenesis 1

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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 fibrochondrogenesis 2, and has symptoms including autosomal recessive inheritance, narrow mouth and cleft palate. 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

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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
1fibrochondrogenesis10.2
2fibrochondrogenesis 210.1

Symptoms for Fibrochondrogenesis 1

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Symptoms by clinical synopsis from OMIM:

228520

Clinical features from OMIM:

228520

HPO human phenotypes related to Fibrochondrogenesis 1:

(show all 48)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 narrow mouth HP:0000160
3 cleft palate HP:0000175
4 wide anterior fontanel HP:0000260
5 malar flattening HP:0000272
6 long philtrum HP:0000343
7 low-set ears HP:0000369
8 abnormality of the pinna HP:0000377
9 anteverted nares HP:0000463
10 short neck HP:0000470
11 megalocornea HP:0000485
12 proptosis HP:0000520
13 short ribs HP:0000773
14 hypoplastic scapulae HP:0000882
15 thin ribs HP:0000883
16 long clavicles HP:0000890
17 anterior rib cupping HP:0000907
18 posterior rib cupping HP:0000922
19 platyspondyly HP:0000926
20 dumbbell-shaped long bone HP:0000947
21 protuberant abdomen HP:0001538
22 omphalocele HP:0001539
23 patent foramen ovale HP:0001655
24 short foot HP:0001773
25 hydrops fetalis HP:0001789
26 hypoplastic toenails HP:0001800
27 hypoplastic fingernail HP:0001804
28 frontal bossing HP:0002007
29 short long bone HP:0003026
30 fibular hypoplasia HP:0003038
31 hypoplastic ischia HP:0003175
32 short nose HP:0003196
33 narrow greater sacrosciatic notches HP:0003375
34 stillbirth HP:0003826
35 clinodactyly of the 5th finger HP:0004209
36 short palm HP:0004279
37 thoracic hypoplasia HP:0005257
38 depressed nasal bridge HP:0005280
39 widely patent coronal suture HP:0005442
40 widely patent sagittal suture HP:0005476
41 broad long bones HP:0005622
42 thin clavicles HP:0006645
43 posterior vertebral hypoplasia HP:0008451
44 rhizomelia HP:0008905
45 joint contracture of the hand HP:0009473
46 camptodactyly HP:0012385
47 broad ischia HP:0100865
48 small hand HP:0200055

Drugs & Therapeutics for Fibrochondrogenesis 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fibrochondrogenesis 1

Genetic Tests for Fibrochondrogenesis 1

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Genetic tests related to Fibrochondrogenesis 1:

id Genetic test Affiliating Genes
1 Fibrochondrogenesis 122 COL11A1

Anatomical Context for Fibrochondrogenesis 1

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MalaCards organs/tissues related to Fibrochondrogenesis 1:

33
Bone

Animal Models for Fibrochondrogenesis 1 or affiliated genes

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Publications for Fibrochondrogenesis 1

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Variations for Fibrochondrogenesis 1

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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

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Search GEO for disease gene expression data for Fibrochondrogenesis 1.

Pathways for genes affiliated with Fibrochondrogenesis 1

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GO Terms for genes affiliated with Fibrochondrogenesis 1

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Sources for Fibrochondrogenesis 1

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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