MCID: FBR029
MIFTS: 22

Fibrochondrogenesis 1

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

Aliases & Classifications for Fibrochondrogenesis 1

MalaCards integrated aliases for Fibrochondrogenesis 1:

Name: Fibrochondrogenesis 1 54 24 71 69
Fbcg1 24 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Fibrochondrogenesis 1

OMIM : 54
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 2 and fibrochondrogenesis, and has symptoms including low-set ears, depressed nasal bridge and proptosis. 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:

id Related Disease Score Top Affiliating Genes
1 fibrochondrogenesis 2 10.9
2 fibrochondrogenesis 10.8

Symptoms & Phenotypes for Fibrochondrogenesis 1

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature
rhizomelic dwarfism

Head And Neck- Nose:
flat nasal bridge
anteverted nares
hypoplastic nose

Head And Neck- Mouth:
cleft palate
microstomia

Skin Nails & Hair- Nails:
hypoplastic toenails
hypoplastic fingernails

Head And Neck- Neck:
short neck

Head And Neck- Eyes:
protuberant eyes
large corneae

Chest- External Features:
small chest

Abdomen- External Features:
omphalocele
protuberant abdomen

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

Skeletal- Feet:
small feet

Prenatal Manifestations- Delivery:
stillborn

Head And Neck- Ears:
malformed ears
low-set ears

Skeletal- Spine:
platyspondyly
posterior vertebral hypoplasia
sagittal cleft

Head And Neck- Face:
frontal bossing
long philtrum
round, flat face

Skeletal- Hands:
fifth finger clinodactyly
small hands
camptodactyly

Head And Neck- Head:
large open anterior fontanel
normal head size

Cardiovascular- Heart:
patent foramen ovale

Chest- Ribs Sternum Clavicles And Scapulae:
short, thin ribs
anterior and posterior rib cupping
long, thin clavicles
small scapulae

Skeletal- Skull:
widely patent coronal suture
widely patent sagittal suture

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

Prenatal Manifestations:
hydrops

Laboratory- Abnormalities:
disorganized growth plate cartilage


Clinical features from OMIM:

228520

Human phenotypes related to Fibrochondrogenesis 1:

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

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, Eye

Publications for Fibrochondrogenesis 1

Variations for Fibrochondrogenesis 1

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

71
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
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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