ACG1A
MCID: ACH033
MIFTS: 48

Achondrogenesis, Type Ia (ACG1A)

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

Aliases & Classifications for Achondrogenesis, Type Ia

MalaCards integrated aliases for Achondrogenesis, Type Ia:

Name: Achondrogenesis, Type Ia 57 29 13 6 39
Achondrogenesis Type Ia 12 72 36 15
Achondrogenesis Type 1a 73 20 58 70
Achondrogenesis Houston-Harris Type 12 20 72
Acg1a 57 20 72
Achondrogenesis, Houston-Harris Type 57 58
Houston-Harris Achondrogenesis 20
Achondrogenesis 1a 72
Acg-Ia 72

Characteristics:

Orphanet epidemiological data:

58
achondrogenesis type 1a
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
infants are stillborn or die shortly after birth


HPO:

31
achondrogenesis, type ia:
Onset and clinical course stillbirth
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080054
OMIM® 57 200600
OMIM Phenotypic Series 57 PS200600
KEGG 36 H00678
MeSH 44 D010009
MESH via Orphanet 45 C536015
ICD10 via Orphanet 33 Q77.0
UMLS via Orphanet 71 C0265273
Orphanet 58 ORPHA93299
MedGen 41 C0265273
UMLS 70 C0265273

Summaries for Achondrogenesis, Type Ia

OMIM® : 57 The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. (200600) (Updated 20-May-2021)

MalaCards based summary : Achondrogenesis, Type Ia, also known as achondrogenesis type ia, is related to osteochondrodysplasia and achondrogenesis, and has symptoms including edema An important gene associated with Achondrogenesis, Type Ia is TRIP11 (Thyroid Hormone Receptor Interactor 11), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Affiliated tissues include vertebral column, spine and bone, and related phenotypes are macrocephaly and frontal bossing

Disease Ontology : 12 An achondrogenesis that results in abnormal ossification of the located in vertebral column or located in spine.

KEGG : 36 Achondrogenesis type IA is an extremely rare neonatal lethal chondrodysplasia. The disorder shows poorly ossified vertebral bodies/skull and completely lacked columnar-zone of the growth plate cartilage. Retention of fibrillar material within the rough endoplasmic reticulum is caused by mutated TRIP11 encoding Golgi-associated microtubule-binding protein 210 in the Golgi apparatus.

UniProtKB/Swiss-Prot : 72 Achondrogenesis 1A: A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.

Wikipedia : 73 Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia... more...

Related Diseases for Achondrogenesis, Type Ia

Graphical network of the top 20 diseases related to Achondrogenesis, Type Ia:



Diseases related to Achondrogenesis, Type Ia

Symptoms & Phenotypes for Achondrogenesis, Type Ia

Human phenotypes related to Achondrogenesis, Type Ia:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
5 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
7 hydrops fetalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001789
8 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
9 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
10 thickened nuchal skin fold 58 31 hallmark (90%) Very frequent (99-80%) HP:0000474
11 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
12 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
13 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
14 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
15 abnormal enchondral ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0003336
16 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
17 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
18 lethal skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005716
19 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
20 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
21 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
22 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
23 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
24 multiple rib fractures 58 31 frequent (33%) Frequent (79-30%) HP:0006640
25 femoral hernia 58 31 frequent (33%) Frequent (79-30%) HP:0100541
26 cystic hygroma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000476
27 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
28 depressed nasal bridge 31 HP:0005280
29 malformation of the heart and great vessels 58 Occasional (29-5%)
30 disproportionate short-trunk short stature 31 HP:0003521
31 hypoplasia of the radius 31 HP:0002984
32 hypoplastic scapulae 31 HP:0000882
33 short clavicles 31 HP:0000894
34 decreased skull ossification 31 HP:0004331
35 hypoplastic ischia 31 HP:0003175
36 protuberant abdomen 31 HP:0001538
37 short ribs 31 HP:0000773
38 broad clavicles 31 HP:0000916
39 barrel-shaped chest 31 HP:0001552
40 abnormality of the femoral metaphysis 31 HP:0006489
41 beaded ribs 31 HP:0000923
42 abnormal hand bone ossification 31 HP:0010660
43 abnormal foot bone ossification 31 HP:0010675
44 unossified vertebral bodies 31 HP:0004606

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Neck:
short neck

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapulae
beaded ribs
short, fractured ribs
short, wide clavicles

Chest External Features:
barrel-shaped chest

Prenatal Manifestations Delivery:
stillborn

Growth Height:
dwarfism, marked micromelic

Skeletal Pelvis:
pubic bones ossified
arched ilium
hypoplastic ischium

Skeletal Feet:
unossified feet

Head And Neck Nose:
short nose
anteverted nares
flat nasal bridge

Skeletal Limbs:
micromelia
short radius
wedged-shape femur with proximal metaphyseal spike
short broad tibia

Abdomen External Features:
protuberant abdomen

Skeletal Spine:
unossified vertebral bodies
cervical and upper thoracic pedicles ossified

Growth Other:
short trunk

Skeletal Skull:
poorly ossified skull

Skeletal Hands:
unossified hands

Prenatal Manifestations:
hydrops

Clinical features from OMIM®:

200600 (Updated 20-May-2021)

UMLS symptoms related to Achondrogenesis, Type Ia:


edema

GenomeRNAi Phenotypes related to Achondrogenesis, Type Ia according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.53 SLC26A2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.53 SLC26A2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.53 TMF1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.53 SLC26A2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.53 SLC26A2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.53 SLC26A2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.53 TMF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.53 SLC26A2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.53 TMF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-155 9.53 SLC26A2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.53 SLC26A2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.53 TMF1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.53 TMF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.53 TMF1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.53 TMF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.53 TMF1

MGI Mouse Phenotypes related to Achondrogenesis, Type Ia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.35 COL2A1 GOLGB1 SLC26A2 TMF1 TRIP11
2 craniofacial MP:0005382 8.92 COL2A1 GOLGB1 SLC26A2 TRIP11

Drugs & Therapeutics for Achondrogenesis, Type Ia

Search Clinical Trials , NIH Clinical Center for Achondrogenesis, Type Ia

Genetic Tests for Achondrogenesis, Type Ia

Genetic tests related to Achondrogenesis, Type Ia:

# Genetic test Affiliating Genes
1 Achondrogenesis, Type Ia 29 TRIP11

Anatomical Context for Achondrogenesis, Type Ia

The Foundational Model of Anatomy Ontology organs/tissues related to Achondrogenesis, Type Ia:

19
Vertebral Column, Spine

MalaCards organs/tissues related to Achondrogenesis, Type Ia:

40
Bone, Heart

Publications for Achondrogenesis, Type Ia

Articles related to Achondrogenesis, Type Ia:

(show all 23)
# Title Authors PMID Year
1
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. 6 61 57
29872333 2018
2
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. 57 6
20089971 2010
3
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. 6
30728324 2019
4
Achondrogenesis type 1B. 57
8950678 1996
5
Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. 57
3275766 1988
6
A case of achondrogenesis type I. 57
6469245 1984
7
In utero diagnosis of achondrogenesis, type I. 57
7460382 1981
8
Achondrogenesis type I: light and electron-microscopic studies. 57
6250850 1980
9
Prenatal diagnosis of achondrogenesis. 57
894421 1977
10
Intracytoplasmic inclusion bodies in the chondrocytes of type I lethal achondrogenesis. 57
186383 1976
11
Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias. 57
4825916 1974
12
Fatal neonatal dwarfism. 57
5063132 1972
13
Pseudo-achondrogenesis with fractures. 57
4568361 1972
14
Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. 57
5582025 1971
15
Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia. 57
4885523 1969
16
[Diagnosis of chondrodystrophic dwarfism in the newborn]. 57
4970273 1968
17
New subtype of familial achondrogenesis type IA (Houston-Harris). 61
30951048 2019
18
New subtype of familial achondrogenesis type IA (Houston-Harris). 61
29681641 2018
19
Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype. 61
17638425 2007
20
Achondrogenesis. 61
17638434 2007
21
Lethal hypophosphatasia, spur type: case report and fetopathological study. 61
9777343 1998
22
Achondrogenesis type IA with an occipital encephalocele. 61
9101279 1997
23
A case of achondrogenesis type IA with an occipital encephalocele. 61
8897040 1996

Variations for Achondrogenesis, Type Ia

ClinVar genetic disease variations for Achondrogenesis, Type Ia:

6 (show top 50) (show all 240)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRIP11 NP_004230.2(TRIP11):p.Trp1224Ter protein only Pathogenic 5509 GRCh37:
GRCh38:
2 TRIP11 NM_004239.4(TRIP11):c.202-2A>G SNV Pathogenic 5510 rs863223281 GRCh37: 14:92491766-92491766
GRCh38: 14:92025422-92025422
3 TRIP11 NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter) SNV Pathogenic 583332 rs1053206465 GRCh37: 14:92471763-92471763
GRCh38: 14:92005419-92005419
4 TRIP11 NM_004239.4(TRIP11):c.3477del (p.Gln1160fs) Deletion Pathogenic 847890 GRCh37: 14:92470843-92470843
GRCh38: 14:92004499-92004499
5 TRIP11 NM_004239.4(TRIP11):c.3478C>T (p.Gln1160Ter) SNV Pathogenic 692166 rs1595387492 GRCh37: 14:92470842-92470842
GRCh38: 14:92004498-92004498
6 TRIP11 NM_004239.4(TRIP11):c.3671G>A (p.Trp1224Ter) SNV Pathogenic 692167 rs776935608 GRCh37: 14:92470649-92470649
GRCh38: 14:92004305-92004305
7 TRIP11 NM_004239.4(TRIP11):c.4127C>A (p.Ser1376Ter) SNV Pathogenic 692173 rs1045076800 GRCh37: 14:92470193-92470193
GRCh38: 14:92003849-92003849
8 TRIP11 NM_004239.4(TRIP11):c.3352_3353del (p.Glu1118fs) Deletion Pathogenic 579327 rs1566859264 GRCh37: 14:92470967-92470968
GRCh38: 14:92004623-92004624
9 TRIP11 NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter) SNV Pathogenic 572495 rs34761938 GRCh37: 14:92477364-92477364
GRCh38: 14:92011020-92011020
10 TRIP11 NM_004239.4(TRIP11):c.615_616CT[1] (p.Asn205_Ser206insTer) Microsatellite Pathogenic 581029 rs1566867763 GRCh37: 14:92484065-92484066
GRCh38: 14:92017721-92017722
11 TRIP11 NM_004239.4(TRIP11):c.2300_2303TCAA[1] (p.Asn768fs) Microsatellite Pathogenic 619115 rs1294029121 GRCh37: 14:92472013-92472016
GRCh38: 14:92005669-92005672
12 TRIP11 NM_004239.4(TRIP11):c.986_987GA[1] (p.Asp330fs) Microsatellite Pathogenic 648142 rs750602133 GRCh37: 14:92480756-92480757
GRCh38: 14:92014412-92014413
13 TRIP11 NM_004239.4(TRIP11):c.81dup (p.Gly28fs) Duplication Pathogenic 968837 GRCh37: 14:92505948-92505949
GRCh38: 14:92039604-92039605
14 TRIP11 NM_004239.4(TRIP11):c.2611C>T (p.Arg871Ter) SNV Pathogenic 1028711 GRCh37: 14:92471709-92471709
GRCh38: 14:92005365-92005365
15 TRIP11 NM_004239.4(TRIP11):c.389C>A (p.Ser130Ter) SNV Pathogenic 1029803 GRCh37: 14:92488099-92488099
GRCh38: 14:92021755-92021755
16 TRIP11 NM_004239.4(TRIP11):c.1661del (p.Thr554fs) Deletion Pathogenic 1031396 GRCh37: 14:92472659-92472659
GRCh38: 14:92006315-92006315
17 TRIP11 NM_004239.4(TRIP11):c.2128_2129del (p.Ile710fs) Deletion Pathogenic 619113 rs1566860640 GRCh37: 14:92472191-92472192
GRCh38: 14:92005847-92005848
18 TRIP11 NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter) SNV Pathogenic 5508 rs267607138 GRCh37: 14:92482073-92482073
GRCh38: 14:92015729-92015729
19 TRIP11 NM_004239.4(TRIP11):c.4830_4833AAAG[1] (p.Lys1612fs) Microsatellite Likely pathogenic 666989 rs1274744069 GRCh37: 14:92465639-92465642
GRCh38: 14:91999295-91999298
20 TRIP11 NM_004239.4(TRIP11):c.3962T>A (p.Leu1321Ter) SNV Likely pathogenic 692172 rs745372938 GRCh37: 14:92470358-92470358
GRCh38: 14:92004014-92004014
21 TRIP11 NM_004239.4(TRIP11):c.2498_2501del (p.Lys833fs) Deletion Likely pathogenic 225501 rs1085307101 GRCh37: 14:92471819-92471822
GRCh38: 14:92005475-92005478
22 TRIP11 NM_004239.4(TRIP11):c.1774C>T (p.Leu592=) SNV Conflicting interpretations of pathogenicity 314966 rs199768095 GRCh37: 14:92472546-92472546
GRCh38: 14:92006202-92006202
23 TRIP11 NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) SNV Conflicting interpretations of pathogenicity 283129 rs72705400 GRCh37: 14:92466390-92466390
GRCh38: 14:92000046-92000046
24 TRIP11 NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn) SNV Conflicting interpretations of pathogenicity 194742 rs145868557 GRCh37: 14:92442496-92442496
GRCh38: 14:91976152-91976152
25 TRIP11 NM_004239.4(TRIP11):c.492T>C (p.Phe164=) SNV Conflicting interpretations of pathogenicity 390192 rs367632896 GRCh37: 14:92487996-92487996
GRCh38: 14:92021652-92021652
26 TRIP11 NM_004239.4(TRIP11):c.5057-9T>G SNV Conflicting interpretations of pathogenicity 390625 rs372161255 GRCh37: 14:92460265-92460265
GRCh38: 14:91993921-91993921
27 TRIP11 NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr) SNV Uncertain significance 884421 GRCh37: 14:92439123-92439123
GRCh38: 14:91972779-91972779
28 TRIP11 NM_004239.4(TRIP11):c.950A>T (p.Asp317Val) SNV Uncertain significance 282580 rs140416653 GRCh37: 14:92480795-92480795
GRCh38: 14:92014451-92014451
29 TRIP11 NM_004239.4(TRIP11):c.2603A>G (p.Glu868Gly) SNV Uncertain significance 651160 rs1306336953 GRCh37: 14:92471717-92471717
GRCh38: 14:92005373-92005373
30 TRIP11 NM_004239.4(TRIP11):c.5720-5T>G SNV Uncertain significance 836694 GRCh37: 14:92436242-92436242
GRCh38: 14:91969898-91969898
31 TRIP11 NM_004239.4(TRIP11):c.4388G>A (p.Gly1463Glu) SNV Uncertain significance 858916 GRCh37: 14:92469932-92469932
GRCh38: 14:92003588-92003588
32 TRIP11 NM_004239.4(TRIP11):c.3595G>A (p.Val1199Ile) SNV Uncertain significance 1003689 GRCh37: 14:92470725-92470725
GRCh38: 14:92004381-92004381
33 TRIP11 NM_004239.4(TRIP11):c.4159_4161del (p.Glu1387del) Deletion Uncertain significance 1004261 GRCh37: 14:92470159-92470161
GRCh38: 14:92003815-92003817
34 TRIP11 NM_004239.4(TRIP11):c.484A>T (p.Met162Leu) SNV Uncertain significance 1005658 GRCh37: 14:92488004-92488004
GRCh38: 14:92021660-92021660
35 TRIP11 NM_004239.4(TRIP11):c.2314G>A (p.Asp772Asn) SNV Uncertain significance 1009547 GRCh37: 14:92472006-92472006
GRCh38: 14:92005662-92005662
36 TRIP11 NM_004239.4(TRIP11):c.1312A>G (p.Lys438Glu) SNV Uncertain significance 951501 GRCh37: 14:92477332-92477332
GRCh38: 14:92010988-92010988
37 TRIP11 NM_004239.4(TRIP11):c.1493A>T (p.Glu498Val) SNV Uncertain significance 955450 GRCh37: 14:92474018-92474018
GRCh38: 14:92007674-92007674
38 TRIP11 NM_004239.4(TRIP11):c.4726C>T (p.Arg1576Cys) SNV Uncertain significance 959981 GRCh37: 14:92465750-92465750
GRCh38: 14:91999406-91999406
39 TRIP11 NM_004239.4(TRIP11):c.1937A>G (p.Glu646Gly) SNV Uncertain significance 967324 GRCh37: 14:92472383-92472383
GRCh38: 14:92006039-92006039
40 TRIP11 NM_004239.4(TRIP11):c.3401T>C (p.Ile1134Thr) SNV Uncertain significance 1015221 GRCh37: 14:92470919-92470919
GRCh38: 14:92004575-92004575
41 TRIP11 NM_004239.4(TRIP11):c.4390G>A (p.Glu1464Lys) SNV Uncertain significance 1017654 GRCh37: 14:92469930-92469930
GRCh38: 14:92003586-92003586
42 TRIP11 NM_004239.4(TRIP11):c.5359C>T (p.Leu1787Phe) SNV Uncertain significance 1023120 GRCh37: 14:92441614-92441614
GRCh38: 14:91975270-91975270
43 TRIP11 NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) SNV Uncertain significance 197230 rs141553918 GRCh37: 14:92488106-92488106
GRCh38: 14:92021762-92021762
44 TRIP11 NM_004239.4(TRIP11):c.4205A>G (p.Gln1402Arg) SNV Uncertain significance 841378 GRCh37: 14:92470115-92470115
GRCh38: 14:92003771-92003771
45 TRIP11 NM_004239.4(TRIP11):c.4330G>C (p.Val1444Leu) SNV Uncertain significance 951564 GRCh37: 14:92469990-92469990
GRCh38: 14:92003646-92003646
46 TRIP11 NM_004239.4(TRIP11):c.3891G>C (p.Gln1297His) SNV Uncertain significance 1028712 GRCh37: 14:92470429-92470429
GRCh38: 14:92004085-92004085
47 TRIP11 NM_004239.4(TRIP11):c.5192A>G (p.Asp1731Gly) SNV Uncertain significance 314933 rs536393273 GRCh37: 14:92454696-92454696
GRCh38: 14:91988352-91988352
48 TRIP11 NM_004239.4(TRIP11):c.2004A>T (p.Leu668Phe) SNV Uncertain significance 1051651 GRCh37: 14:92472316-92472316
GRCh38: 14:92005972-92005972
49 TRIP11 NM_004239.4(TRIP11):c.1934_1939del (p.Lys645_Glu646del) Deletion Uncertain significance 1061203 GRCh37: 14:92472381-92472386
GRCh38: 14:92006037-92006042
50 TRIP11 NM_004239.4(TRIP11):c.3215A>G (p.His1072Arg) SNV Uncertain significance 1062975 GRCh37: 14:92471105-92471105
GRCh38: 14:92004761-92004761

Expression for Achondrogenesis, Type Ia

Search GEO for disease gene expression data for Achondrogenesis, Type Ia.

Pathways for Achondrogenesis, Type Ia

Pathways related to Achondrogenesis, Type Ia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.36 TRIP11 TMF1 GOLGB1 GCC2
2
Show member pathways
11.95 TRIP11 TMF1 GCC2
3 10.31 TMF1 GCC2

GO Terms for Achondrogenesis, Type Ia

Cellular components related to Achondrogenesis, Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.43 TRIP11 TMF1 GOLGB1
2 Golgi apparatus GO:0005794 9.26 TRIP11 TMF1 GOLGB1 GCC2
3 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 9.16 TRIP11 GOLGB1
4 cis-Golgi network GO:0005801 8.62 TRIP11 GOLGB1

Biological processes related to Achondrogenesis, Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.37 TRIP11 GOLGB1
2 Golgi organization GO:0007030 9.32 TRIP11 GOLGB1
3 ossification GO:0001503 9.26 SLC26A2 COL2A1
4 cartilage development GO:0051216 9.16 TRIP11 COL2A1
5 bone development GO:0060348 8.96 TRIP11 COL2A1
6 Golgi ribbon formation GO:0090161 8.62 TRIP11 GCC2

Sources for Achondrogenesis, Type Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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