FBCG1
MCID: FBR029
MIFTS: 18

Fibrochondrogenesis 1 (FBCG1) malady

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

Aliases & Classifications for Fibrochondrogenesis 1

Aliases & Descriptions for Fibrochondrogenesis 1:

Name: Fibrochondrogenesis 1 54 24 66 69
Fbcg1 24 66

Characteristics:

HPO:

32
fibrochondrogenesis 1:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 228520
MeSH 42 D010009

Summaries for Fibrochondrogenesis 1

OMIM : 54 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 malar flattening, low-set ears and short neck. An important gene associated with Fibrochondrogenesis 1 is COL11A1 (Collagen Type XI Alpha 1 Chain). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 66 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

Diseases in the Fibrochondrogenesis family:

Fibrochondrogenesis 1 Fibrochondrogenesis 2

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

id Related Disease Score Top Affiliating Genes
1 fibrochondrogenesis 10.9
2 fibrochondrogenesis 2 10.9

Symptoms & Phenotypes for Fibrochondrogenesis 1

Symptoms by clinical synopsis from OMIM:

228520

Clinical features from OMIM:

228520

Human phenotypes related to Fibrochondrogenesis 1:

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

UMLS symptoms related to Fibrochondrogenesis 1:


edema

Drugs & Therapeutics for Fibrochondrogenesis 1

Search Clinical Trials , NIH Clinical Center for Fibrochondrogenesis 1

Genetic Tests for Fibrochondrogenesis 1

Genetic tests related to Fibrochondrogenesis 1:

id Genetic test Affiliating Genes
1 Fibrochondrogenesis 1 24 COL11A1

Anatomical Context for Fibrochondrogenesis 1

MalaCards organs/tissues related to Fibrochondrogenesis 1:

39
Bone

Publications for Fibrochondrogenesis 1

Variations for Fibrochondrogenesis 1

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

66
id Symbol AA change Variation ID SNP ID
1 COL11A1 p.Gly796Arg VAR_065904
2 COL11A1 p.Gly1042Arg VAR_065905

ClinVar genetic disease variations for Fibrochondrogenesis 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL11A1 NM_001854.3(COL11A1): c.4603T> C (p.Ser1535Pro) single nucleotide variant risk factor rs1676486 GRCh37 Chromosome 1, 103354138: 103354138
2 COL11A1 NM_001854.3(COL11A1): c.1786dupG (p.Ala596Glyfs) duplication Pathogenic rs730882190 GRCh37 Chromosome 1, 103471629: 103471629
3 COL11A1 NM_080629.2(COL11A1): c.3277G> C (p.Gly1093Arg) single nucleotide variant Pathogenic rs397514455 GRCh37 Chromosome 1, 103412440: 103412440
4 COL11A1 NM_080629.2(COL11A1): c.2386G> C (p.Gly796Arg) single nucleotide variant Pathogenic rs387906611 GRCh37 Chromosome 1, 103455118: 103455118
5 COL11A1 COL11A1, GLY1315TER undetermined variant Pathogenic

Expression for Fibrochondrogenesis 1

Search GEO for disease gene expression data for Fibrochondrogenesis 1.

Pathways for Fibrochondrogenesis 1

GO Terms for Fibrochondrogenesis 1

Sources for Fibrochondrogenesis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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