MCID: FBR029
MIFTS: 18

Fibrochondrogenesis 1 malady

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

Aliases & Classifications for Fibrochondrogenesis 1

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Aliases & Descriptions for Fibrochondrogenesis 1:

Name: Fibrochondrogenesis 1 50 23 68 66
 
Fbcg1 23 68

Characteristics:

HPO:

62
fibrochondrogenesis 1:
Inheritance: autosomal recessive inheritance
Mortality/Aging: stillbirth


Classifications:



External Ids:

OMIM50 228520
MeSH37 D010009

Summaries for Fibrochondrogenesis 1

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OMIM:50 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 narrow mouth, cleft palate and wide anterior fontanel. An important gene associated with Fibrochondrogenesis 1 is COL11A1 (Collagen Type XI Alpha 1 Chain). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:68 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
1fibrochondrogenesis11.0

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 46)
id Description Frequency HPO Source Accession
1 narrow mouth HP:0000160
2 cleft palate HP:0000175
3 wide anterior fontanel HP:0000260
4 malar flattening HP:0000272
5 long philtrum HP:0000343
6 low-set ears HP:0000369
7 abnormality of the pinna HP:0000377
8 anteverted nares HP:0000463
9 short neck HP:0000470
10 megalocornea HP:0000485
11 proptosis HP:0000520
12 short ribs HP:0000773
13 hypoplastic scapulae HP:0000882
14 thin ribs HP:0000883
15 long clavicles HP:0000890
16 anterior rib cupping HP:0000907
17 posterior rib cupping HP:0000922
18 platyspondyly HP:0000926
19 dumbbell-shaped long bone HP:0000947
20 protuberant abdomen HP:0001538
21 omphalocele HP:0001539
22 patent foramen ovale HP:0001655
23 short foot HP:0001773
24 hydrops fetalis HP:0001789
25 hypoplastic toenails HP:0001800
26 hypoplastic fingernail HP:0001804
27 frontal bossing HP:0002007
28 short long bone HP:0003026
29 fibular hypoplasia HP:0003038
30 hypoplastic ischia HP:0003175
31 short nose HP:0003196
32 narrow greater sacrosciatic notches HP:0003375
33 clinodactyly of the 5th finger HP:0004209
34 short palm HP:0004279
35 thoracic hypoplasia HP:0005257
36 depressed nasal bridge HP:0005280
37 widely patent coronal suture HP:0005442
38 widely patent sagittal suture HP:0005476
39 broad long bones HP:0005622
40 thin clavicles HP:0006645
41 posterior vertebral hypoplasia HP:0008451
42 rhizomelia HP:0008905
43 joint contracture of the hand HP:0009473
44 camptodactyly HP:0012385
45 broad ischia HP:0100865
46 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 123 COL11A1

Anatomical Context for Fibrochondrogenesis 1

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MalaCards organs/tissues related to Fibrochondrogenesis 1:

34
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:

68
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet