FBCG1
MCID: FBR029
MIFTS: 18

Fibrochondrogenesis 1 (FBCG1) 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 52 24 70 68
 
Fbcg1 24 70

Characteristics:

HPO:

64
fibrochondrogenesis 1:
Inheritance: autosomal recessive inheritance
Mortality/Aging: stillbirth

Classifications:



External Ids:

OMIM52 228520
MeSH39 D010009

Summaries for Fibrochondrogenesis 1

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OMIM:52 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 edema, narrow mouth and cleft palate. An important gene associated with Fibrochondrogenesis 1 is COL11A1 (Collagen Type XI Alpha 1 Chain). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:70 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
1fibrochondrogenesis10.9
2fibrochondrogenesis 210.9

Symptoms & Phenotypes for Fibrochondrogenesis 1

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Symptoms by clinical synopsis from OMIM:

228520

Clinical features from OMIM:

228520

Human phenotypes related to Fibrochondrogenesis 1:

 64 (show all 46)
id Description HPO Frequency HPO Source Accession
1 narrow mouth64 HP:0000160
2 cleft palate64 HP:0000175
3 wide anterior fontanel64 HP:0000260
4 malar flattening64 HP:0000272
5 long philtrum64 HP:0000343
6 low-set ears64 HP:0000369
7 abnormality of the pinna64 HP:0000377
8 anteverted nares64 HP:0000463
9 short neck64 HP:0000470
10 megalocornea64 HP:0000485
11 proptosis64 HP:0000520
12 short ribs64 HP:0000773
13 hypoplastic scapulae64 HP:0000882
14 thin ribs64 HP:0000883
15 long clavicles64 HP:0000890
16 anterior rib cupping64 HP:0000907
17 posterior rib cupping64 HP:0000922
18 platyspondyly64 HP:0000926
19 dumbbell-shaped long bone64 HP:0000947
20 protuberant abdomen64 HP:0001538
21 omphalocele64 HP:0001539
22 patent foramen ovale64 HP:0001655
23 short foot64 HP:0001773
24 hydrops fetalis64 HP:0001789
25 hypoplastic toenails64 HP:0001800
26 hypoplastic fingernail64 HP:0001804
27 frontal bossing64 HP:0002007
28 short long bone64 HP:0003026
29 fibular hypoplasia64 HP:0003038
30 hypoplastic ischia64 HP:0003175
31 short nose64 HP:0003196
32 narrow greater sacrosciatic notches64 HP:0003375
33 clinodactyly of the 5th finger64 HP:0004209
34 short palm64 HP:0004279
35 thoracic hypoplasia64 HP:0005257
36 depressed nasal bridge64 HP:0005280
37 widely patent coronal suture64 HP:0005442
38 widely patent sagittal suture64 HP:0005476
39 broad long bones64 HP:0005622
40 thin clavicles64 HP:0006645
41 posterior vertebral hypoplasia64 HP:0008451
42 rhizomelia64 HP:0008905
43 joint contracture of the hand64 HP:0009473
44 camptodactyly64 HP:0012385
45 broad ischia64 HP:0100865
46 small hand64 HP:0200055

UMLS symptoms related to Fibrochondrogenesis 1:


edema

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 124 COL11A1

Anatomical Context for Fibrochondrogenesis 1

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MalaCards organs/tissues related to Fibrochondrogenesis 1:

36
Bone

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:

70
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.4603T> C (p.Ser1535Pro)SNVrisk factorrs1676486GRCh37Chr 1, 103354138: 103354138
2COL11A1NM_ 001854.3(COL11A1): c.1786dupG (p.Ala596Glyfs)duplicationPathogenicrs730882190GRCh37Chr 1, 103471629: 103471629
3COL11A1NM_ 080629.2(COL11A1): c.3277G> C (p.Gly1093Arg)SNVPathogenicrs397514455GRCh37Chr 1, 103412440: 103412440
4COL11A1NM_ 080629.2(COL11A1): c.2386G> C (p.Gly796Arg)SNVPathogenicrs387906611GRCh37Chr 1, 103455118: 103455118
5COL11A1COL11A1, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet