MCID: FBR029
MIFTS: 23

Fibrochondrogenesis 1

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

Aliases & Classifications for Fibrochondrogenesis 1

MalaCards integrated aliases for Fibrochondrogenesis 1:

Name: Fibrochondrogenesis 1 53 71 69
Fbcg1 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
all affected individuals have been stillborn or died in the neonatal period


HPO:

31
fibrochondrogenesis 1:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fibrochondrogenesis 1

OMIM : 53 Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by 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. Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape. The vertebral bodies are flat and, on lateral view, have a distinctive pinched appearance, with a hypoplastic posterior end and a rounded anterior end. The ribs are typically short and wide and have metaphyseal cupping at both ends (summary by Tompson et al., 2010). (228520)

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 and eye.

UniProtKB/Swiss-Prot : 71 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:

# Related Disease Score Top Affiliating Genes
1 fibrochondrogenesis 11.0
2 fibrochondrogenesis 2 11.0

Symptoms & Phenotypes for Fibrochondrogenesis 1

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckEars:
low-set ears
malformed ears

HeadAndNeckFace:
frontal bossing
long philtrum
round, flat face

GrowthHeight:
short stature
rhizomelic dwarfism

SkeletalSpine:
platyspondyly
posterior vertebral hypoplasia
sagittal cleft

AbdomenExternalFeatures:
omphalocele
protuberant abdomen

CardiovascularHeart:
patent foramen ovale

PrenatalManifestationsDelivery:
stillborn

SkeletalFeet:
small feet

PrenatalManifestations:
hydrops

HeadAndNeckHead:
large open anterior fontanel
normal head size

SkeletalSkull:
widely patent coronal suture
widely patent sagittal suture

HeadAndNeckNeck:
short neck

HeadAndNeckNose:
anteverted nares
flat nasal bridge
hypoplastic nose

HeadAndNeckMouth:
cleft palate
microstomia

SkinNailsHairNails:
hypoplastic toenails
hypoplastic fingernails

SkeletalHands:
camptodactyly
fifth finger clinodactyly
small hands

SkeletalLimbs:
rhizomelic limb shortening
short fibulae
short, broad dumbbell-shaped tubular bones with irregular metaphyses

ChestRibsSternumClaviclesAndScapulae:
short, thin ribs
small scapulae
anterior and posterior rib cupping
long, thin clavicles

SkeletalPelvis:
narrow sacrosciatic notches
broad, hypoplastic ischia
ovoid ilia
irregular, flattened acetabula with medial spikes

ChestExternalFeatures:
small chest

HeadAndNeckEyes:
protuberant eyes
large corneae

LaboratoryAbnormalities:
disorganized growth plate cartilage


Clinical features from OMIM:

228520

Human phenotypes related to Fibrochondrogenesis 1:

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

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

Anatomical Context for Fibrochondrogenesis 1

MalaCards organs/tissues related to Fibrochondrogenesis 1:

38
Bone, Eye

Publications for Fibrochondrogenesis 1

Variations for Fibrochondrogenesis 1

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

71
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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